gene_symbol	hgnc_id	mgi_id	disorder_id	disorder_name	IMPC_pipeline	IMPC_phenotypes	HPO_phenotypes	PhenoDigm_match	max_score
A1BG	HGNC:5	MGI:2152878	-	-	no	no	no	no	NA
A1CF	HGNC:24086	MGI:1917115	-	-	yes	no	no	no	NA
A2M	HGNC:7	MGI:2449119	-	-	yes	no	no	no	NA
A3GALT2	HGNC:30005	MGI:2685279	-	-	yes	no	no	no	NA
A4GALT	HGNC:18149	MGI:3512453	OMIM:111400	Blood Group, P1Pk System	yes	no	no	no	NA
A4GNT	HGNC:17968	MGI:2143261	-	-	no	no	no	no	NA
AAAS	HGNC:13666	MGI:2443767	OMIM:231550|ORPHA:869	Achalasia-Addisonianism-Alacrima Syndrome|Triple A Syndrome	no	no	no	no	NA
AACS	HGNC:21298	MGI:1926144	-	-	yes	no	no	no	NA
AADAC	HGNC:17	MGI:1915008	-	-	yes	no	no	no	NA
AADACL2	HGNC:24427	MGI:3646333	-	-	yes	no	no	no	NA
AADACL3	HGNC:32037	MGI:2685281	-	-	no	no	no	no	NA
AADAT	HGNC:17929	MGI:1345167	-	-	no	no	no	no	NA
AAGAB	HGNC:25662	MGI:1914189	OMIM:148600|ORPHA:79501	Palmoplantar Keratoderma, Punctate Type Ia|Punctate Palmoplantar Keratoderma Type 1	no	no	no	no	NA
AAK1	HGNC:19679	MGI:1098687	-	-	yes	no	no	no	NA
AAMDC	HGNC:30205	MGI:1913523	-	-	no	no	no	no	NA
AAMP	HGNC:18	MGI:107809	-	-	yes	no	no	no	NA
AANAT	HGNC:19	MGI:1328365	-	-	yes	no	no	no	NA
AAR2	HGNC:15886	MGI:1915545	-	-	no	no	no	no	NA
AARD	HGNC:33842	MGI:2181621	-	-	yes	no	no	no	NA
AARS1	HGNC:20	MGI:2384560	OMIM:619661|OMIM:613287|OMIM:616339|OMIM:619691|ORPHA:228174|ORPHA:442835|ORPHA:33364	Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2|Charcot-Marie-Tooth Disease, Axonal, Type 2N|Developmental And Epileptic Encephalopathy 29|Trichothiodystrophy 8, Nonphotosensitive|Autosomal Dominant Charcot-Marie-Tooth Disease Type 2N|Non-Specific Early-Onset Epileptic Encephalopathy|Trichothiodystrophy	no	no	no	no	NA
AARS2	HGNC:21022	MGI:2681839	OMIM:614096|OMIM:615889|ORPHA:319504|ORPHA:313808|ORPHA:99853	Combined Oxidative Phosphorylation Deficiency 8|Leukoencephalopathy, Progressive, With Ovarian Failure|Combined Oxidative Phosphorylation Defect Type 8|Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids And Pigmented Glia|Ovarioleukodystrophy	yes	yes	yes	yes	27.865
AARSD1	HGNC:28417	MGI:1916934	-	-	no	no	no	no	NA
AASDH	HGNC:23993	MGI:2442517	-	-	yes	no	no	no	NA
AASDHPPT	HGNC:14235	MGI:1914868	-	-	yes	no	no	no	NA
AASS	HGNC:17366	MGI:1353573	OMIM:238700|ORPHA:3124|ORPHA:2203	Hyperlysinemia, Type I|Saccharopinuria|Hyperlysinemia	yes	yes	yes	yes	13.33
AATF	HGNC:19235	MGI:1929608	-	-	yes	no	no	no	NA
AATK	HGNC:21	MGI:1197518	-	-	no	no	no	no	NA
ABAT	HGNC:23	MGI:2443582	OMIM:613163|ORPHA:2066	Gaba-Transaminase Deficiency|Gamma-Aminobutyric Acid Transaminase Deficiency	yes	yes	yes	no	NA
ABCA1	HGNC:29	MGI:99607	OMIM:604091|OMIM:205400|ORPHA:425|ORPHA:31150	Hypoalphalipoproteinemia, Primary, 1|Tangier Disease|Apolipoprotein A-I Deficiency	yes	yes	yes	no	NA
ABCA12	HGNC:14637	MGI:2676312	OMIM:601277|OMIM:242500|ORPHA:313|ORPHA:457|ORPHA:79394	Ichthyosis, Congenital, Autosomal Recessive 4A|Ichthyosis, Congenital, Autosomal Recessive 4B|Lamellar Ichthyosis|Harlequin Ichthyosis|Congenital Ichthyosiform Erythroderma	yes	yes	yes	yes	44.35
ABCA13	HGNC:14638	MGI:2388707	-	-	yes	no	no	no	NA
ABCA2	HGNC:32	MGI:99606	OMIM:618808|ORPHA:88616	Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia|Autosomal Recessive Non-Syndromic Intellectual Disability	yes	yes	yes	yes	40.86
ABCA3	HGNC:33	MGI:1351617	OMIM:610921|ORPHA:2032|ORPHA:440402|ORPHA:70587	Surfactant Metabolism Dysfunction, Pulmonary, 3|Idiopathic Pulmonary Fibrosis|Interstitial Lung Disease Due To Abca3 Deficiency|Infant Acute Respiratory Distress Syndrome	yes	yes	yes	yes	20.61
ABCA4	HGNC:34	MGI:109424	OMIM:604116|OMIM:248200|OMIM:601718|OMIM:153800|ORPHA:827|ORPHA:791|ORPHA:1872|ORPHA:279	Cone-Rod Dystrophy 3|Stargardt Disease 1|Retinitis Pigmentosa 19|Macular Degeneration, Age-Related, 2|Stargardt Disease|Retinitis Pigmentosa|Cone Rod Dystrophy|Non Rare In Europe: Age-Related Macular Degeneration	yes	yes	yes	no	NA
ABCA5	HGNC:35	MGI:2386607	OMIM:135400|ORPHA:2026	Hypertrichosis, Congenital Generalized, With Or Without Gingival Hyperplasia|Gingival Fibromatosis-Hypertrichosis Syndrome	yes	yes	yes	no	NA
ABCA6	HGNC:36	MGI:1923434	-	-	yes	no	no	no	NA
ABCA7	HGNC:37	MGI:1351646	OMIM:608907|ORPHA:1020|ORPHA:238616	Alzheimer Disease 9, Susceptibility To|Early-Onset Autosomal Dominant Alzheimer Disease|Non Rare In Europe: Alzheimer Disease	yes	yes	yes	no	NA
ABCA9	HGNC:39	MGI:2386796	-	-	yes	no	no	no	NA
ABCB10	HGNC:41	MGI:1860508	-	-	no	no	no	no	NA
ABCB11	HGNC:42	MGI:1351619	OMIM:605479|OMIM:601847|ORPHA:69665|ORPHA:79304|ORPHA:99961	Cholestasis, Benign Recurrent Intrahepatic, 2|Cholestasis, Progressive Familial Intrahepatic, 2|Intrahepatic Cholestasis Of Pregnancy|Progressive Familial Intrahepatic Cholestasis Type 2|Benign Recurrent Intrahepatic Cholestasis Type 2	yes	yes	yes	yes	53.475
ABCB4	HGNC:45	MGI:97569	OMIM:614972|OMIM:602347|OMIM:600803|ORPHA:69663|ORPHA:69665|ORPHA:79305	Cholestasis, Intrahepatic, Of Pregnancy 3|Cholestasis, Progressive Familial Intrahepatic, 3|Gallbladder Disease 1|Low Phospholipid-Associated Cholelithiasis|Intrahepatic Cholestasis Of Pregnancy|Progressive Familial Intrahepatic Cholestasis Type 3	yes	yes	yes	yes	51.59
ABCB5	HGNC:46	MGI:1924956	-	-	yes	no	no	no	NA
ABCB6	HGNC:47	MGI:1921354	OMIM:615402|OMIM:614497|OMIM:609153|OMIM:111600|ORPHA:241|ORPHA:90044|ORPHA:98942|ORPHA:98938|ORPHA:98947|ORPHA:98945|ORPHA:98946|ORPHA:98943|ORPHA:98944	Dyschromatosis Universalis Hereditaria 3|Microphthalmia, Isolated, With Coloboma 7|Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak|Blood Group, Langereis System|Dyschromatosis Universalis Hereditaria|Familial Pseudohyperkalemia|Coloboma Of Choroid And Retina|Colobomatous Microphthalmia|Coloboma Of Optic Disc|Coloboma Of Macula|Coloboma Of Eyelid|Coloboma Of Eye Lens|Coloboma Of Iris	yes	yes	yes	no	NA
ABCB7	HGNC:48	MGI:109533	OMIM:301310|ORPHA:2802	Anemia, Sideroblastic, And Spinocerebellar Ataxia|X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	no	no	no	no	NA
ABCB8	HGNC:49	MGI:1351667	-	-	no	no	no	no	NA
ABCB9	HGNC:50	MGI:1861729	-	-	yes	no	no	no	NA
ABCC1	HGNC:51	MGI:102676	OMIM:618915|ORPHA:90635	Deafness, Autosomal Dominant 77|Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	no	no	no	no	NA
ABCC10	HGNC:52	MGI:2386976	-	-	yes	no	no	no	NA
ABCC12	HGNC:14640	MGI:2441679	-	-	yes	no	no	no	NA
ABCC2	HGNC:53	MGI:1352447	OMIM:237500|ORPHA:234	Dubin-Johnson Syndrome	yes	yes	yes	yes	64.07
ABCC3	HGNC:54	MGI:1923658	-	-	no	no	no	no	NA
ABCC4	HGNC:55	MGI:2443111	-	-	no	no	no	no	NA
ABCC5	HGNC:56	MGI:1351644	-	-	yes	no	no	no	NA
ABCC6	HGNC:57	MGI:1351634	OMIM:614473|OMIM:264800|OMIM:177850|ORPHA:758|ORPHA:51608	Arterial Calcification, Generalized, Of Infancy, 2|Pseudoxanthoma Elasticum|Pseudoxanthoma Elasticum, Forme Fruste|Generalized Arterial Calcification Of Infancy	no	no	no	no	NA
ABCC8	HGNC:59	MGI:1352629	OMIM:125853|OMIM:618857|OMIM:610374|OMIM:256450|OMIM:240800|ORPHA:276575|ORPHA:276598|ORPHA:552|ORPHA:79134|ORPHA:79643|ORPHA:99885|ORPHA:99886	Type 2 Diabetes Mellitus|Diabetes Mellitus, Permanent Neonatal, 3|Diabetes Mellitus, Transient Neonatal, 2|Hyperinsulinemic Hypoglycemia, Familial, 1|Hypoglycemia, Leucine-Induced|Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency|Diazoxide-Resistant Focal Hyperinsulinism Due To Sur1 Deficiency|Mody|Dend Syndrome|Autosomal Recessive Hyperinsulinism Due To Sur1 Deficiency|Isolated Permanent Neonatal Diabetes Mellitus|Transient Neonatal Diabetes Mellitus	yes	yes	yes	yes	80.335
ABCC9	HGNC:60	MGI:1352630	OMIM:614050|OMIM:608569|OMIM:239850|OMIM:619719|ORPHA:154|ORPHA:1517|ORPHA:130|ORPHA:334	Atrial Fibrillation, Familial, 12|Cardiomyopathy, Dilated, 1O|Cantu Syndrome|Intellectual Disability And Myopathy Syndrome|Familial Isolated Dilated Cardiomyopathy|Cantú Syndrome|Brugada Syndrome|Familial Atrial Fibrillation	yes	yes	yes	yes	45.525
ABCD1	HGNC:61	MGI:1349215	OMIM:300100|ORPHA:388|ORPHA:139396|ORPHA:139399|ORPHA:369942	Adrenoleukodystrophy|Hirschsprung Disease|X-Linked Cerebral Adrenoleukodystrophy|Adrenomyeloneuropathy|Cadds	yes	yes	yes	yes	45.055
ABCD2	HGNC:66	MGI:1349467	-	-	no	no	no	no	NA
ABCD3	HGNC:67	MGI:1349216	OMIM:616278	Bile Acid Synthesis Defect, Congenital, 5	yes	yes	yes	yes	34.085
ABCD4	HGNC:68	MGI:1349217	OMIM:614857|ORPHA:369955	Methylmalonic Aciduria And Homocystinuria, Cblj Type|Methylmalonic Acidemia With Homocystinuria, Type Cblj	yes	yes	yes	no	NA
ABCE1	HGNC:69	MGI:1195458	-	-	yes	no	no	no	NA
ABCF1	HGNC:70	MGI:1351658	-	-	no	no	no	no	NA
ABCF2	HGNC:71	MGI:1351657	-	-	no	no	no	no	NA
ABCF3	HGNC:72	MGI:1351656	-	-	no	no	no	no	NA
ABCG1	HGNC:73	MGI:107704	-	-	no	no	no	no	NA
ABCG2	HGNC:74	MGI:1347061	OMIM:614490|OMIM:138900	Blood Group, Junior System|Uric Acid Concentration, Serum, Quantitative Trait Locus 1	yes	yes	no	no	NA
ABCG4	HGNC:13884	MGI:1890594	-	-	no	no	no	no	NA
ABCG5	HGNC:13886	MGI:1351659	OMIM:618666|ORPHA:2882|ORPHA:391665	Sitosterolemia 2|Sitosterolemia|Homozygous Familial Hypercholesterolemia	no	no	no	no	NA
ABCG8	HGNC:13887	MGI:1914720	OMIM:210250|OMIM:611465|ORPHA:2882|ORPHA:391665	Sitosterolemia 1|Gallbladder Disease 4|Sitosterolemia|Homozygous Familial Hypercholesterolemia	yes	yes	yes	yes	68.46
ABHD10	HGNC:25656	MGI:2442422	-	-	yes	no	no	no	NA
ABHD11	HGNC:16407	MGI:1916008	-	-	yes	no	no	no	NA
ABHD12	HGNC:15868	MGI:1923442	OMIM:612674|ORPHA:171848	Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract|Polyneuropathy-Hearing Loss-Ataxia-Retinitis Pigmentosa-Cataract Syndrome	no	no	no	no	NA
ABHD12B	HGNC:19837	MGI:2685650	-	-	yes	no	no	no	NA
ABHD13	HGNC:20293	MGI:1916154	-	-	yes	no	no	no	NA
ABHD14A	HGNC:24538	MGI:1915894	-	-	yes	no	no	no	NA
ABHD14B	HGNC:28235	MGI:1923741	-	-	yes	no	no	no	NA
ABHD15	HGNC:26971	MGI:1914727	-	-	yes	no	no	no	NA
ABHD16A	HGNC:13921	MGI:99476	OMIM:619735|ORPHA:631085	Spastic Paraplegia 86, Autosomal Recessive|Autosomal Recessive Spastic Paraplegia Type 86	yes	yes	yes	no	NA
ABHD16B	HGNC:16128	MGI:3607711	-	-	no	no	no	no	NA
ABHD17A	HGNC:28756	MGI:106388	-	-	yes	no	no	no	NA
ABHD17B	HGNC:24278	MGI:1917816	-	-	yes	no	no	no	NA
ABHD17C	HGNC:26925	MGI:1917428	-	-	yes	no	no	no	NA
ABHD18	HGNC:26111	MGI:1915468	-	-	no	no	no	no	NA
ABHD2	HGNC:18717	MGI:1914344	-	-	no	no	no	no	NA
ABHD3	HGNC:18718	MGI:2147183	-	-	yes	no	no	no	NA
ABHD4	HGNC:20154	MGI:1915938	-	-	yes	no	no	no	NA
ABHD5	HGNC:21396	MGI:1914719	OMIM:275630|ORPHA:98907	Chanarin-Dorfman Syndrome|Neutral Lipid Storage Disease With Ichthyosis	yes	yes	yes	yes	21.93
ABHD6	HGNC:21398	MGI:1913332	-	-	yes	no	no	no	NA
ABHD8	HGNC:23759	MGI:1918946	-	-	yes	no	no	no	NA
ABI1	HGNC:11320	MGI:104913	-	-	no	no	no	no	NA
ABI2	HGNC:24011	MGI:106913	-	-	yes	no	no	no	NA
ABI3	HGNC:29859	MGI:1913860	-	-	yes	no	no	no	NA
ABI3BP	HGNC:17265	MGI:2444583	-	-	yes	no	no	no	NA
ABITRAM	HGNC:1364	MGI:2677850	-	-	yes	no	no	no	NA
ABL1	HGNC:76	MGI:87859	OMIM:617602|OMIM:608232|ORPHA:521|ORPHA:585909|ORPHA:643503|ORPHA:99861	Congenital Heart Defects And Skeletal Malformations Syndrome|Leukemia, Chronic Myeloid|Chronic Myeloid Leukemia|B-Lymphoblastic Leukemia/Lymphoma With T(9;22)(Q34.1;Q11.2)|Marfanoid Habitus-Facial Dysmorphism-Skeletal Abnormality-Heart Defect Syndrome|Precursor T-Cell Acute Lymphoblastic Leukemia	no	no	no	no	NA
ABL2	HGNC:77	MGI:87860	-	-	no	no	no	no	NA
ABLIM1	HGNC:78	MGI:1194500	-	-	yes	no	no	no	NA
ABLIM2	HGNC:19195	MGI:2385758	-	-	yes	no	no	no	NA
ABLIM3	HGNC:29132	MGI:2442582	-	-	yes	no	no	no	NA
ABO	HGNC:79	MGI:2135738	OMIM:616093	Blood Group, Abo System	yes	yes	no	no	NA
ABR	HGNC:81	MGI:107771	-	-	no	no	no	no	NA
ABRA	HGNC:30655	MGI:2444891	-	-	no	no	no	no	NA
ABRACL	HGNC:21230	MGI:1920362	-	-	no	no	no	no	NA
ABRAXAS1	HGNC:25829	MGI:1917931	-	-	no	no	no	no	NA
ABRAXAS2	HGNC:28975	MGI:1926116	-	-	yes	no	no	no	NA
ABT1	HGNC:17369	MGI:1353636	-	-	no	no	no	no	NA
ABTB1	HGNC:18275	MGI:1933148	-	-	yes	no	no	no	NA
ABTB2	HGNC:23842	MGI:2139365	-	-	yes	no	no	no	NA
ABTB3	HGNC:23844	MGI:1921257	-	-	yes	no	no	no	NA
ACAA2	HGNC:83	MGI:1098623	-	-	no	no	no	no	NA
ACACA	HGNC:84	MGI:108451	OMIM:613933	Acetyl-Coa Carboxylase Deficiency	no	no	no	no	NA
ACACB	HGNC:85	MGI:2140940	-	-	no	no	no	no	NA
ACAD10	HGNC:21597	MGI:1919235	-	-	yes	no	no	no	NA
ACAD11	HGNC:30211	MGI:2143169	-	-	yes	no	no	no	NA
ACAD8	HGNC:87	MGI:1914198	OMIM:611283|ORPHA:79159	Isobutyryl-Coa Dehydrogenase Deficiency	no	no	no	no	NA
ACAD9	HGNC:21497	MGI:1914272	OMIM:611126|ORPHA:99901	Mitochondrial Complex I Deficiency, Nuclear Type 20|Acyl-Coa Dehydrogenase 9 Deficiency	no	no	no	no	NA
ACADL	HGNC:88	MGI:87866	-	-	no	no	no	no	NA
ACADM	HGNC:89	MGI:87867	OMIM:201450|ORPHA:42	Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of|Medium Chain Acyl-Coa Dehydrogenase Deficiency	yes	yes	yes	no	NA
ACADS	HGNC:90	MGI:87868	OMIM:201470|ORPHA:26792	Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of|Short Chain Acyl-Coa Dehydrogenase Deficiency	no	no	no	no	NA
ACADSB	HGNC:91	MGI:1914135	OMIM:610006|ORPHA:79157	2-Methylbutyryl-Coa Dehydrogenase Deficiency	yes	yes	yes	no	NA
ACADVL	HGNC:92	MGI:895149	OMIM:201475|ORPHA:26793	Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of|Very Long Chain Acyl-Coa Dehydrogenase Deficiency	yes	yes	yes	yes	36.785
ACAN	HGNC:319	MGI:99602	OMIM:608361|OMIM:165800|OMIM:612813|ORPHA:171866|ORPHA:251262|ORPHA:435804|ORPHA:93283	Spondyloepiphyseal Dysplasia, Kimberley Type|Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans|Spondyloepimetaphyseal Dysplasia, Aggrecan Type|Familial Osteochondritis Dissecans|Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	yes	yes	yes	no	NA
ACAP1	HGNC:16467	MGI:2388270	-	-	yes	no	no	no	NA
ACAP2	HGNC:16469	MGI:1925868	-	-	yes	no	no	no	NA
ACAP3	HGNC:16754	MGI:2153589	-	-	yes	no	no	no	NA
ACAT1	HGNC:93	MGI:87870	OMIM:203750|ORPHA:134	Alpha-Methylacetoacetic Aciduria|Beta-Ketothiolase Deficiency	yes	yes	yes	yes	26.24
ACBD3	HGNC:15453	MGI:2181074	-	-	yes	no	no	no	NA
ACBD4	HGNC:23337	MGI:1914381	-	-	no	no	no	no	NA
ACBD5	HGNC:23338	MGI:1921409	OMIM:618863	Retinal Dystrophy With Leukodystrophy	yes	yes	yes	yes	37.78
ACBD6	HGNC:23339	MGI:1919732	-	-	no	no	no	no	NA
ACBD7	HGNC:17715	MGI:1925495	-	-	no	no	no	no	NA
ACCS	HGNC:23989	MGI:1919717	-	-	no	no	no	no	NA
ACCSL	HGNC:34391	MGI:3584519	-	-	yes	no	no	no	NA
ACD	HGNC:25070	MGI:87873	OMIM:616553|ORPHA:3322|ORPHA:618|ORPHA:397692	Dyskeratosis Congenita, Autosomal Dominant 6|Hoyeraal-Hreidarsson Syndrome|Familial Melanoma|Hereditary Isolated Aplastic Anemia	no	no	no	no	NA
ACE	HGNC:2707	MGI:87874	OMIM:267430|OMIM:614519|OMIM:612624|ORPHA:34145|ORPHA:97369	Renal Tubular Dysgenesis|Hemorrhage, Intracerebral, Susceptibility To|Microvascular Complications Of Diabetes, Susceptibility To, 3|Non Rare In Europe: Berger Disease|Renal Tubular Dysgenesis Of Genetic Origin	yes	yes	yes	no	NA
ACE2	HGNC:13557	MGI:1917258	-	-	yes	no	no	no	NA
ACER1	HGNC:18356	MGI:2181962	-	-	yes	no	no	no	NA
ACER2	HGNC:23675	MGI:1920932	-	-	no	no	no	no	NA
ACER3	HGNC:16066	MGI:1913440	OMIM:617762|ORPHA:502444	Leukodystrophy, Progressive, Early Childhood-Onset|Alkaline Ceramidase 3 Deficiency	no	no	no	no	NA
ACHE	HGNC:108	MGI:87876	OMIM:112100	Yt Blood Group Antigen	yes	yes	no	no	NA
ACIN1	HGNC:17066	MGI:1891824	-	-	no	no	no	no	NA
ACKR1	HGNC:4035	MGI:1097689	OMIM:110700|OMIM:611862|OMIM:611162	Blood Group, Duffy System|White Blood Cell Count Quantitative Trait Locus 1|Malaria, Susceptibility To	no	no	no	no	NA
ACKR2	HGNC:1565	MGI:1891697	-	-	no	no	no	no	NA
ACKR3	HGNC:23692	MGI:109562	OMIM:619215	Oculomotor-Abducens Synkinesis	yes	yes	yes	no	NA
ACKR4	HGNC:1611	MGI:2181676	-	-	no	no	no	no	NA
ACLY	HGNC:115	MGI:103251	-	-	no	no	no	no	NA
ACMSD	HGNC:19288	MGI:2386323	-	-	yes	no	no	no	NA
ACO1	HGNC:117	MGI:87879	-	-	yes	no	no	no	NA
ACO2	HGNC:118	MGI:87880	OMIM:614559|OMIM:616289|ORPHA:313850|ORPHA:98676	Infantile Cerebellar-Retinal Degeneration|Optic Atrophy 9|Autosomal Recessive Isolated Optic Atrophy	yes	yes	yes	yes	37.055
ACOD1	HGNC:33904	MGI:103206	-	-	yes	no	no	no	NA
ACOT11	HGNC:18156	MGI:1913736	-	-	no	no	no	no	NA
ACOT12	HGNC:24436	MGI:1921406	-	-	yes	no	no	no	NA
ACOT13	HGNC:20999	MGI:1914084	-	-	no	no	no	no	NA
ACOT4	HGNC:19748	MGI:2159621	-	-	yes	no	no	no	NA
ACOT6	HGNC:33159	MGI:1921287	-	-	yes	no	no	no	NA
ACOT7	HGNC:24157	MGI:1917275	-	-	no	no	no	no	NA
ACOT8	HGNC:15919	MGI:2158201	-	-	yes	no	no	no	NA
ACOX1	HGNC:119	MGI:1330812	OMIM:618960|OMIM:264470|ORPHA:2971|ORPHA:631248	Mitchell Syndrome|Peroxisomal Acyl-Coa Oxidase Deficiency	no	no	no	no	NA
ACOX2	HGNC:120	MGI:1934852	OMIM:617308	Bile Acid Synthesis Defect, Congenital, 6	no	no	no	no	NA
ACOX3	HGNC:121	MGI:1933156	-	-	yes	no	no	no	NA
ACOXL	HGNC:25621	MGI:1921371	-	-	yes	no	no	no	NA
ACP1	HGNC:122	MGI:87881	-	-	no	no	no	no	NA
ACP2	HGNC:123	MGI:87882	OMIM:200950	Acid Phosphatase Deficiency	yes	yes	no	no	NA
ACP3	HGNC:125	MGI:1928480	-	-	no	no	no	no	NA
ACP4	HGNC:14376	MGI:3644563	OMIM:617297|ORPHA:100031	Amelogenesis Imperfecta, Type Ij|Hypoplastic Amelogenesis Imperfecta	no	no	no	no	NA
ACP5	HGNC:124	MGI:87883	OMIM:607944|ORPHA:1855	Spondyloenchondrodysplasia With Immune Dysregulation|Spondyloenchondrodysplasia	no	no	no	no	NA
ACP6	HGNC:29609	MGI:1931010	-	-	yes	no	no	no	NA
ACP7	HGNC:33781	MGI:2142121	-	-	no	no	no	no	NA
ACR	HGNC:126	MGI:87884	OMIM:620500	Spermatogenic Failure 87	no	no	no	no	NA
ACRBP	HGNC:17195	MGI:1859515	-	-	no	no	no	no	NA
ACRV1	HGNC:127	MGI:104590	-	-	no	no	no	no	NA
ACSBG1	HGNC:29567	MGI:2385656	-	-	no	no	no	no	NA
ACSBG2	HGNC:24174	MGI:3587728	-	-	yes	no	no	no	NA
ACSF2	HGNC:26101	MGI:2388287	-	-	yes	no	no	no	NA
ACSF3	HGNC:27288	MGI:2182591	OMIM:614265|ORPHA:289504	Combined Malonic And Methylmalonic Aciduria|Combined Malonic And Methylmalonic Acidemia	yes	yes	yes	yes	21.24
ACSL1	HGNC:3569	MGI:102797	-	-	no	no	no	no	NA
ACSL3	HGNC:3570	MGI:1921455	-	-	no	no	no	no	NA
ACSL4	HGNC:3571	MGI:1354713	OMIM:300387|ORPHA:777|ORPHA:86818	Intellectual Developmental Disorder, X-Linked 63|X-Linked Non-Syndromic Intellectual Disability|Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	yes	yes	yes	yes	30.035
ACSL5	HGNC:16526	MGI:1919129	OMIM:620357	Diarrhea 13	yes	yes	yes	yes	55.8
ACSL6	HGNC:16496	MGI:894291	-	-	no	no	no	no	NA
ACSM1	HGNC:18049	MGI:2152200	-	-	yes	no	no	no	NA
ACSM3	HGNC:10522	MGI:99538	-	-	no	no	no	no	NA
ACSM4	HGNC:32016	MGI:2681844	-	-	no	no	no	no	NA
ACSM5	HGNC:26060	MGI:2444086	-	-	yes	no	no	no	NA
ACSS1	HGNC:16091	MGI:1915988	-	-	no	no	no	no	NA
ACSS2	HGNC:15814	MGI:1890410	-	-	no	no	no	no	NA
ACSS3	HGNC:24723	MGI:2685720	-	-	no	no	no	no	NA
ACTA1	HGNC:129	MGI:87902	OMIM:616852|OMIM:161800|OMIM:620265|OMIM:620278|ORPHA:171430|ORPHA:171433|ORPHA:171436|ORPHA:171439|ORPHA:2020|ORPHA:447977|ORPHA:97244|ORPHA:97240|ORPHA:98904	Myopathy, Scapulohumeroperoneal|Congenital Myopathy 2A, Typical, Autosomal Dominant|Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive|Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant|Severe Congenital Nemaline Myopathy|Intermediate Nemaline Myopathy|Typical Nemaline Myopathy|Childhood-Onset Nemaline Myopathy|Congenital Fiber-Type Disproportion Myopathy|Progressive Scapulohumeroperoneal Distal Myopathy|Rigid Spine Syndrome|Zebra Body Myopathy|Congenital Myopathy With Excess Of Thin Filaments	no	no	no	no	NA
ACTA2	HGNC:130	MGI:87909	OMIM:611788|OMIM:614042|OMIM:613834|ORPHA:2573|ORPHA:404463|ORPHA:91387	Aortic Aneurysm, Familial Thoracic 6|Moyamoya Disease 5|Multisystemic Smooth Muscle Dysfunction Syndrome|Moyamoya Disease|Familial Thoracic Aortic Aneurysm And Aortic Dissection	yes	yes	yes	yes	29.3
ACTB	HGNC:132	MGI:87904	OMIM:243310|OMIM:604919|OMIM:607371|OMIM:620475|ORPHA:2995|ORPHA:64755|ORPHA:79107	Baraitser-Winter Syndrome 1|Becker Nevus Syndrome|Dystonia-Deafness Syndrome 1|Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay|Baraitser-Winter Cerebrofrontofacial Syndrome|Developmental Malformations-Deafness-Dystonia Syndrome	no	no	no	no	NA
ACTBL2	HGNC:17780	MGI:2444552	-	-	no	no	no	no	NA
ACTC1	HGNC:143	MGI:87905	OMIM:612794|OMIM:613424|OMIM:612098|ORPHA:154|ORPHA:155|ORPHA:54260|ORPHA:99103	Atrial Septal Defect 5|Cardiomyopathy, Dilated, 1R|Cardiomyopathy, Familial Hypertrophic, 11|Familial Isolated Dilated Cardiomyopathy|Non Rare In Europe: Familial Isolated Hypertrophic Cardiomyopathy|Left Ventricular Noncompaction|Atrial Septal Defect, Ostium Secundum Type	yes	yes	yes	no	NA
ACTG1	HGNC:144	MGI:87906	OMIM:614583|OMIM:604717|ORPHA:2995|ORPHA:90635|ORPHA:98942|ORPHA:98944	Baraitser-Winter Syndrome 2|Deafness, Autosomal Dominant 20|Baraitser-Winter Cerebrofrontofacial Syndrome|Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna|Coloboma Of Choroid And Retina|Coloboma Of Iris	yes	yes	yes	yes	53.08
ACTG2	HGNC:145	MGI:104589	OMIM:619431|OMIM:155310|ORPHA:2604|ORPHA:2241|ORPHA:104077	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5|Visceral Myopathy 1|Familial Visceral Myopathy|Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome|Myopathic Intestinal Pseudoobstruction	yes	yes	yes	no	NA
ACTL10	HGNC:16127	MGI:1917612	-	-	yes	no	no	no	NA
ACTL6A	HGNC:24124	MGI:1861453	ORPHA:528084	Non-Specific Syndromic Intellectual Disability	yes	yes	no	no	NA
ACTL6B	HGNC:160	MGI:1933548	OMIM:618468|OMIM:618470|ORPHA:442835|ORPHA:528084	Developmental And Epileptic Encephalopathy 76|Intellectual Developmental Disorder With Severe Speech And Ambulation Defects|Non-Specific Early-Onset Epileptic Encephalopathy|Non-Specific Syndromic Intellectual Disability	yes	yes	yes	yes	41.425
ACTL7A	HGNC:161	MGI:1343051	OMIM:620499	Spermatogenic Failure 86	no	no	no	no	NA
ACTL7B	HGNC:162	MGI:1343053	-	-	yes	no	no	no	NA
ACTL9	HGNC:28494	MGI:1916731	OMIM:619258|ORPHA:276234	Spermatogenic Failure 53|Non-Syndromic Male Infertility Due To Sperm Motility Disorder	no	no	no	no	NA
ACTMAP	HGNC:24758	MGI:3041247	-	-	no	no	no	no	NA
ACTN1	HGNC:163	MGI:2137706	OMIM:615193|ORPHA:140957	Bleeding Disorder, Platelet-Type, 15|Autosomal Dominant Macrothrombocytopenia	yes	no	yes	no	NA
ACTN2	HGNC:164	MGI:109192	OMIM:612158|OMIM:618654|OMIM:618655|ORPHA:154|ORPHA:155	Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction|Congenital Myopathy 8|Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant|Familial Isolated Dilated Cardiomyopathy|Non Rare In Europe: Familial Isolated Hypertrophic Cardiomyopathy	no	no	no	no	NA
ACTN3	HGNC:165	MGI:99678	OMIM:617749	Actn3 Deficiency	no	no	no	no	NA
ACTN4	HGNC:166	MGI:1890773	OMIM:603278|ORPHA:656	Focal Segmental Glomerulosclerosis 1|Genetic Steroid-Resistant Nephrotic Syndrome	yes	yes	yes	no	NA
ACTR10	HGNC:17372	MGI:1891654	-	-	no	no	no	no	NA
ACTR1A	HGNC:167	MGI:1858964	-	-	no	no	no	no	NA
ACTR1B	HGNC:168	MGI:1917446	-	-	no	no	no	no	NA
ACTR2	HGNC:169	MGI:1913963	-	-	no	no	no	no	NA
ACTR3	HGNC:170	MGI:1921367	-	-	no	no	no	no	NA
ACTR3B	HGNC:17256	MGI:2661120	-	-	yes	no	no	no	NA
ACTR5	HGNC:14671	MGI:1924748	-	-	yes	no	no	no	NA
ACTR6	HGNC:24025	MGI:1914269	-	-	yes	no	no	no	NA
ACTR8	HGNC:14672	MGI:1860775	-	-	yes	no	no	no	NA
ACTRT1	HGNC:24027	MGI:1920610	-	-	no	no	no	no	NA
ACTRT2	HGNC:24026	MGI:1920603	-	-	no	no	no	no	NA
ACTRT3	HGNC:24022	MGI:1923902	-	-	yes	no	no	no	NA
ACVR1	HGNC:171	MGI:87911	OMIM:135100|ORPHA:337	Fibrodysplasia Ossificans Progressiva	yes	yes	yes	no	NA
ACVR1B	HGNC:172	MGI:1338944	OMIM:260350	Pancreatic Cancer	yes	yes	yes	yes	19.805
ACVR1C	HGNC:18123	MGI:2661081	-	-	yes	no	no	no	NA
ACVR2A	HGNC:173	MGI:102806	-	-	yes	no	no	no	NA
ACVR2B	HGNC:174	MGI:87912	OMIM:613751|ORPHA:157769	Heterotaxy, Visceral, 4, Autosomal|Situs Ambiguus	yes	yes	yes	no	NA
ACVRL1	HGNC:175	MGI:1338946	OMIM:600376|ORPHA:774|ORPHA:275777	Telangiectasia, Hereditary Hemorrhagic, Type 2|Hereditary Hemorrhagic Telangiectasia|Heritable Pulmonary Arterial Hypertension	no	no	no	no	NA
ACY3	HGNC:24104	MGI:1918920	-	-	yes	no	no	no	NA
ACYP1	HGNC:179	MGI:1913454	-	-	yes	no	no	no	NA
ACYP2	HGNC:180	MGI:1922822	-	-	no	no	no	no	NA
ADA	HGNC:186	MGI:87916	OMIM:102700|ORPHA:277|ORPHA:39041	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency|Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency|Omenn Syndrome	no	no	no	no	NA
ADAD1	HGNC:30713	MGI:103258	-	-	yes	no	no	no	NA
ADAD2	HGNC:30714	MGI:1923023	-	-	yes	no	no	no	NA
ADAL	HGNC:31853	MGI:1923144	-	-	yes	no	no	no	NA
ADAM10	HGNC:188	MGI:109548	OMIM:615537|OMIM:615590|ORPHA:178307	Reticulate Acropigmentation Of Kitamura|Alzheimer Disease 18	no	no	no	no	NA
ADAM11	HGNC:189	MGI:1098667	-	-	yes	no	no	no	NA
ADAM12	HGNC:190	MGI:105378	-	-	no	no	no	no	NA
ADAM15	HGNC:193	MGI:1333882	-	-	no	no	no	no	NA
ADAM17	HGNC:195	MGI:1096335	OMIM:614328|ORPHA:294023	Inflammatory Skin And Bowel Disease, Neonatal, 1|Neonatal Inflammatory Skin And Bowel Disease	yes	yes	yes	yes	12.55
ADAM18	HGNC:196	MGI:105986	-	-	no	no	no	no	NA
ADAM19	HGNC:197	MGI:105377	-	-	no	no	no	no	NA
ADAM2	HGNC:198	MGI:1340894	-	-	no	no	no	no	NA
ADAM21	HGNC:200	MGI:1861229	-	-	no	no	no	no	NA
ADAM22	HGNC:201	MGI:1340046	OMIM:617933	Developmental And Epileptic Encephalopathy 61	no	no	no	no	NA
ADAM23	HGNC:202	MGI:1345162	-	-	yes	no	no	no	NA
ADAM28	HGNC:206	MGI:105988	-	-	no	no	no	no	NA
ADAM29	HGNC:207	MGI:2676326	-	-	no	no	no	no	NA
ADAM30	HGNC:208	MGI:1918328	-	-	yes	no	no	no	NA
ADAM32	HGNC:15479	MGI:2653822	-	-	yes	no	no	no	NA
ADAM33	HGNC:15478	MGI:1341813	-	-	yes	no	no	no	NA
ADAM7	HGNC:214	MGI:107247	-	-	no	no	no	no	NA
ADAM8	HGNC:215	MGI:107825	-	-	yes	no	no	no	NA
ADAM9	HGNC:216	MGI:105376	OMIM:612775|ORPHA:1872	Cone-Rod Dystrophy 9|Cone Rod Dystrophy	no	no	no	no	NA
ADAMDEC1	HGNC:16299	MGI:1917650	-	-	yes	no	no	no	NA
ADAMTS1	HGNC:217	MGI:109249	-	-	yes	no	no	no	NA
ADAMTS10	HGNC:13201	MGI:2449112	OMIM:277600|ORPHA:3449	Weill-Marchesani Syndrome 1|Weill-Marchesani Syndrome	no	no	no	no	NA
ADAMTS12	HGNC:14605	MGI:2146046	-	-	yes	no	no	no	NA
ADAMTS13	HGNC:1366	MGI:2685556	OMIM:274150|ORPHA:93583	Thrombotic Thrombocytopenic Purpura, Hereditary|Congenital Thrombotic Thrombocytopenic Purpura	yes	no	yes	no	NA
ADAMTS14	HGNC:14899	MGI:2179942	-	-	yes	no	no	no	NA
ADAMTS15	HGNC:16305	MGI:2449569	OMIM:620545	Arthrogryposis, Distal, Type 12	yes	yes	no	no	NA
ADAMTS16	HGNC:17108	MGI:2429637	-	-	yes	no	no	no	NA
ADAMTS17	HGNC:17109	MGI:3588195	OMIM:613195|ORPHA:363992	Weill-Marchesani Syndrome 4|Ichthyosis-Short Stature-Brachydactyly-Microspherophakia Syndrome	no	no	no	no	NA
ADAMTS18	HGNC:17110	MGI:2442600	OMIM:615458|ORPHA:369970	Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus|Microcornea-Myopic Chorioretinal Atrophy-Telecanthus Syndrome	yes	yes	yes	yes	41.61
ADAMTS19	HGNC:17111	MGI:2442875	OMIM:620067	Cardiac Valvular Dysplasia 2	yes	no	yes	no	NA
ADAMTS2	HGNC:218	MGI:1347356	OMIM:225410|ORPHA:1901	Ehlers-Danlos Syndrome, Dermatosparaxis Type|Dermatosparaxis Ehlers-Danlos Syndrome	no	no	no	no	NA
ADAMTS20	HGNC:17178	MGI:2660628	-	-	no	no	no	no	NA
ADAMTS3	HGNC:219	MGI:3045353	OMIM:618154|ORPHA:2136	Hennekam Lymphangiectasia-Lymphedema Syndrome 3|Hennekam Syndrome	yes	yes	yes	no	NA
ADAMTS4	HGNC:220	MGI:1339949	-	-	yes	no	no	no	NA
ADAMTS5	HGNC:221	MGI:1346321	-	-	no	no	no	no	NA
ADAMTS6	HGNC:222	MGI:1347348	-	-	yes	no	no	no	NA
ADAMTS7	HGNC:223	MGI:1347346	-	-	no	no	no	no	NA
ADAMTS8	HGNC:224	MGI:1353468	-	-	no	no	no	no	NA
ADAMTS9	HGNC:13202	MGI:1916320	ORPHA:93592	Juvenile Nephronophthisis	yes	yes	no	no	NA
ADAMTSL1	HGNC:14632	MGI:1924989	ORPHA:521445	Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	no	no	no	no	NA
ADAMTSL2	HGNC:14631	MGI:1925044	OMIM:231050|ORPHA:2623|ORPHA:1901	Geleophysic Dysplasia 1|Geleophysic Dysplasia|Dermatosparaxis Ehlers-Danlos Syndrome	no	no	no	no	NA
ADAMTSL3	HGNC:14633	MGI:3028499	-	-	yes	no	no	no	NA
ADAMTSL4	HGNC:19706	MGI:2389008	OMIM:225200|OMIM:225100|ORPHA:1885	Ectopia Lentis Et Pupillae|Ectopia Lentis 2, Isolated, Autosomal Recessive|Isolated Ectopia Lentis	yes	yes	yes	yes	76.88
ADAMTSL5	HGNC:27912	MGI:1913798	-	-	yes	no	no	no	NA
ADAP1	HGNC:16486	MGI:2442201	-	-	yes	no	no	no	NA
ADAP2	HGNC:16487	MGI:2663075	-	-	no	no	no	no	NA
ADAR	HGNC:225	MGI:1889575	OMIM:615010|OMIM:127400|ORPHA:51|ORPHA:225154|ORPHA:41	Aicardi-Goutieres Syndrome 6|Dyschromatosis Symmetrica Hereditaria|Aicardi-Goutières Syndrome|Familial Infantile Bilateral Striatal Necrosis	yes	yes	yes	yes	29.88
ADARB1	HGNC:226	MGI:891999	OMIM:618862	Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	yes	yes	yes	no	NA
ADARB2	HGNC:227	MGI:2151118	-	-	yes	no	no	no	NA
ADAT1	HGNC:228	MGI:1353631	-	-	no	no	no	no	NA
ADAT2	HGNC:21172	MGI:1914007	-	-	no	no	no	no	NA
ADCK1	HGNC:19038	MGI:1919363	-	-	yes	no	no	no	NA
ADCK2	HGNC:19039	MGI:1889336	-	-	yes	no	no	no	NA
ADCK5	HGNC:21738	MGI:2679274	-	-	yes	no	no	no	NA
ADCY1	HGNC:232	MGI:99677	OMIM:610154|ORPHA:90636	Deafness, Autosomal Recessive 44|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	yes	yes	yes	no	NA
ADCY10	HGNC:21285	MGI:2660854	OMIM:143870|ORPHA:2197	Hypercalciuria, Absorptive, 2|Idiopathic Hypercalciuria	no	no	no	no	NA
ADCY2	HGNC:233	MGI:99676	-	-	yes	no	no	no	NA
ADCY3	HGNC:234	MGI:99675	OMIM:617885	Body Mass Index Quantitative Trait Locus 19	yes	yes	yes	yes	17.5
ADCY4	HGNC:235	MGI:99674	-	-	no	no	no	no	NA
ADCY5	HGNC:236	MGI:99673	OMIM:606703|OMIM:619647|OMIM:619651|ORPHA:1429|ORPHA:324588	Dyskinesia With Orofacial Involvement, Autosomal Dominant|Dyskinesia With Orofacial Involvement, Autosomal Recessive|Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia|Benign Hereditary Chorea|Familial Dyskinesia And Facial Myokymia	no	no	no	no	NA
ADCY6	HGNC:237	MGI:87917	OMIM:616287|ORPHA:2680	Lethal Congenital Contracture Syndrome 8|Hypomyelination Neuropathy-Arthrogryposis Syndrome	yes	yes	yes	no	NA
ADCY7	HGNC:238	MGI:102891	-	-	no	no	no	no	NA
ADCY8	HGNC:239	MGI:1341110	-	-	no	no	no	no	NA
ADCY9	HGNC:240	MGI:108450	-	-	yes	no	no	no	NA
ADCYAP1	HGNC:241	MGI:105094	-	-	no	no	no	no	NA
ADCYAP1R1	HGNC:242	MGI:108449	-	-	yes	no	no	no	NA
ADD1	HGNC:243	MGI:87918	OMIM:145500	Hypertension, Essential	no	no	no	no	NA
ADD2	HGNC:244	MGI:87919	-	-	no	no	no	no	NA
ADD3	HGNC:245	MGI:1351615	OMIM:617008|ORPHA:210141	Cerebral Palsy, Spastic Quadriplegic, 3|Inherited Congenital Spastic Tetraplegia	no	no	no	no	NA
ADGB	HGNC:21212	MGI:3605549	-	-	yes	no	no	no	NA
ADGRA1	HGNC:13838	MGI:1277167	-	-	yes	no	no	no	NA
ADGRA2	HGNC:17849	MGI:1925810	-	-	no	no	no	no	NA
ADGRA3	HGNC:13839	MGI:1917943	-	-	no	no	no	no	NA
ADGRB1	HGNC:943	MGI:1933736	-	-	yes	no	no	no	NA
ADGRB2	HGNC:944	MGI:2451244	-	-	yes	no	no	no	NA
ADGRB3	HGNC:945	MGI:2441837	-	-	yes	no	no	no	NA
ADGRD1	HGNC:19893	MGI:3041203	-	-	yes	no	no	no	NA
ADGRE1	HGNC:3336	MGI:106912	-	-	no	no	no	no	NA
ADGRE5	HGNC:1711	MGI:1347095	-	-	no	no	no	no	NA
ADGRF1	HGNC:18990	MGI:1924846	-	-	no	no	no	no	NA
ADGRF2P	HGNC:18991	MGI:2182728	-	-	no	no	no	no	NA
ADGRF3	HGNC:18989	MGI:2685887	-	-	yes	no	no	no	NA
ADGRF4	HGNC:19011	MGI:1925499	-	-	yes	no	no	no	NA
ADGRF5	HGNC:19030	MGI:2182928	-	-	yes	no	no	no	NA
ADGRG1	HGNC:4512	MGI:1340051	OMIM:606854|OMIM:615752|ORPHA:98889|ORPHA:101070	Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal)|Cortical Dysplasia, Complex, With Other Brain Malformations 14B (Bilateral Perisylvian)|Bilateral Perisylvian Polymicrogyria|Bilateral Frontoparietal Polymicrogyria	no	no	no	no	NA
ADGRG2	HGNC:4516	MGI:2446854	OMIM:300985|ORPHA:48	Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked|Congenital Bilateral Absence Of Vas Deferens	no	no	no	no	NA
ADGRG3	HGNC:13728	MGI:1859670	-	-	no	no	no	no	NA
ADGRG4	HGNC:18992	MGI:2685213	-	-	yes	no	no	no	NA
ADGRG5	HGNC:19010	MGI:2685955	-	-	yes	no	no	no	NA
ADGRG6	HGNC:13841	MGI:1916151	OMIM:616503	Lethal Congenital Contracture Syndrome 9	no	no	no	no	NA
ADGRG7	HGNC:19241	MGI:2441732	-	-	yes	no	no	no	NA
ADGRL1	HGNC:20973	MGI:1929461	OMIM:620065|ORPHA:528084	Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders|Non-Specific Syndromic Intellectual Disability	no	no	no	no	NA
ADGRL2	HGNC:18582	MGI:2139714	-	-	no	no	no	no	NA
ADGRL3	HGNC:20974	MGI:2441950	-	-	yes	no	no	no	NA
ADGRL4	HGNC:20822	MGI:2655562	-	-	yes	no	no	no	NA
ADGRV1	HGNC:17416	MGI:1274784	OMIM:604352|OMIM:605472|ORPHA:231178|ORPHA:36387	Febrile Seizures, Familial, 4|Usher Syndrome, Type Iic|Usher Syndrome Type 2|Generalized Epilepsy With Febrile Seizures-Plus	yes	yes	yes	yes	48.59
ADH4	HGNC:252	MGI:1349472	-	-	yes	no	no	no	NA
ADH5	HGNC:253	MGI:87929	OMIM:619151	Amed Syndrome, Digenic	yes	yes	yes	yes	30.83
ADH7	HGNC:256	MGI:87926	-	-	no	no	no	no	NA
ADHFE1	HGNC:16354	MGI:1923437	-	-	yes	no	no	no	NA
ADI1	HGNC:30576	MGI:2144929	-	-	yes	no	no	no	NA
ADIG	HGNC:28606	MGI:2675492	-	-	yes	no	no	no	NA
ADIPOQ	HGNC:13633	MGI:106675	OMIM:612556	Adiponectin Deficiency	yes	yes	no	no	NA
ADIPOR1	HGNC:24040	MGI:1919924	-	-	yes	no	no	no	NA
ADIPOR2	HGNC:24041	MGI:93830	-	-	yes	no	no	no	NA
ADISSP	HGNC:15873	MGI:1914576	-	-	yes	no	no	no	NA
ADK	HGNC:257	MGI:87930	OMIM:614300|ORPHA:289290	Hypermethioninemia Due To Adenosine Kinase Deficiency|Hypermethioninemia Encephalopathy Due To Adenosine Kinase Deficiency	yes	yes	yes	yes	17.085
ADM	HGNC:259	MGI:108058	-	-	no	no	no	no	NA
ADM2	HGNC:28898	MGI:2675256	-	-	yes	no	no	no	NA
ADNP	HGNC:15766	MGI:1338758	OMIM:615873|ORPHA:404448	Helsmoortel-Van Der Aa Syndrome|Adnp Syndrome	no	no	no	no	NA
ADNP2	HGNC:23803	MGI:2448562	-	-	yes	no	no	no	NA
ADO	HGNC:23506	MGI:2685083	-	-	no	no	no	no	NA
ADORA1	HGNC:262	MGI:99401	-	-	yes	no	no	no	NA
ADORA2A	HGNC:263	MGI:99402	ORPHA:363549	Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	yes	yes	yes	no	NA
ADORA2B	HGNC:264	MGI:99403	-	-	yes	no	no	no	NA
ADORA3	HGNC:268	MGI:104847	-	-	no	no	no	no	NA
ADPGK	HGNC:25250	MGI:1919391	-	-	yes	no	no	no	NA
ADPRH	HGNC:269	MGI:1098234	-	-	no	no	no	no	NA
ADPRHL1	HGNC:21303	MGI:2442168	-	-	yes	no	no	no	NA
ADPRM	HGNC:30925	MGI:1913608	-	-	yes	no	no	no	NA
ADPRS	HGNC:21304	MGI:2140364	OMIM:618170	Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	yes	yes	yes	no	NA
ADRA1A	HGNC:277	MGI:104773	-	-	no	no	no	no	NA
ADRA1B	HGNC:278	MGI:104774	-	-	no	no	no	no	NA
ADRA1D	HGNC:280	MGI:106673	-	-	no	no	no	no	NA
ADRA2A	HGNC:281	MGI:87934	-	-	yes	no	no	no	NA
ADRA2B	HGNC:282	MGI:87935	ORPHA:86814	Benign Adult Familial Myoclonic Epilepsy	no	no	no	no	NA
ADRA2C	HGNC:283	MGI:87936	-	-	no	no	no	no	NA
ADRB1	HGNC:285	MGI:87937	OMIM:607276|OMIM:618591	Resting Heart Rate, Variation In|Short Sleep, Familial Natural, 2	no	no	no	no	NA
ADRB2	HGNC:286	MGI:87938	-	-	yes	no	no	no	NA
ADRB3	HGNC:288	MGI:87939	OMIM:601665	Obesity	yes	no	yes	no	NA
ADRM1	HGNC:15759	MGI:1929289	-	-	no	no	no	no	NA
ADSL	HGNC:291	MGI:103202	OMIM:103050|ORPHA:46	Adenylosuccinase Deficiency|Adenylosuccinate Lyase Deficiency	yes	yes	yes	no	NA
ADSS1	HGNC:20093	MGI:87947	OMIM:617030|ORPHA:482601	Myopathy, Distal, 5|Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy	no	no	no	no	NA
ADSS2	HGNC:292	MGI:87948	-	-	yes	no	no	no	NA
ADTRP	HGNC:21214	MGI:1924596	-	-	yes	no	no	no	NA
AEBP1	HGNC:303	MGI:1197012	OMIM:618000|ORPHA:536532	Ehlers-Danlos Syndrome, Classic-Like, 2|Classical-Like Ehlers-Danlos Syndrome Type 2	yes	yes	yes	yes	21.97
AEBP2	HGNC:24051	MGI:1338038	-	-	no	no	no	no	NA
AEN	HGNC:25722	MGI:1915298	-	-	no	no	no	no	NA
AFAP1	HGNC:24017	MGI:1917542	-	-	no	no	no	no	NA
AFAP1L1	HGNC:26714	MGI:2147199	-	-	yes	no	no	no	NA
AFAP1L2	HGNC:25901	MGI:2147658	-	-	yes	no	no	no	NA
AFDN	HGNC:7137	MGI:1314653	-	-	yes	no	no	no	NA
AFF1	HGNC:7135	MGI:1100819	ORPHA:589595	Mixed Phenotype Acute Leukemia With T(V;11Q23.3)	no	no	no	no	NA
AFF2	HGNC:3776	MGI:1202294	OMIM:309548|ORPHA:100973	Intellectual Developmental Disorder, X-Linked 109|Fraxe Intellectual Disability	yes	yes	yes	no	NA
AFF3	HGNC:6473	MGI:106927	OMIM:619297|ORPHA:632603	Kinsship Syndrome|Mesomelic Dysplasia-Digital Anomalies-Intellectual Disability Syndrome	yes	yes	yes	yes	33.4
AFF4	HGNC:17869	MGI:2136171	OMIM:616368|ORPHA:444077	Chops Syndrome|Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	yes	yes	yes	yes	32.245
AFG1L	HGNC:16411	MGI:2148801	-	-	yes	no	no	no	NA
AFG2A	HGNC:18119	MGI:1927170	OMIM:616577|ORPHA:457351	Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities|Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	yes	yes	yes	no	NA
AFG2B	HGNC:28762	MGI:3036261	OMIM:619615|OMIM:619616|ORPHA:90636	Deafness, Autosomal Recessive 119|Neurodevelopmental Disorder With Hearing Loss And Spasticity|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	yes	yes	yes	no	NA
AFG3L2	HGNC:315	MGI:1916847	OMIM:618977|OMIM:614487|OMIM:610246|ORPHA:313772|ORPHA:101109	Optic Atrophy 12|Spastic Ataxia 5, Autosomal Recessive|Spinocerebellar Ataxia 28|Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome|Spinocerebellar Ataxia Type 28	no	no	no	no	NA
AFM	HGNC:316	MGI:2429409	-	-	no	no	no	no	NA
AFMID	HGNC:20910	MGI:2448704	-	-	yes	no	no	no	NA
AFP	HGNC:317	MGI:87951	OMIM:615969|OMIM:615970|ORPHA:168615|ORPHA:168612	Alpha-Fetoprotein Deficiency|Alpha-Fetoprotein, Hereditary Persistence Of|Hereditary Persistence Of Alpha-Fetoprotein|Congenital Deficiency In Alpha-Fetoprotein	no	no	no	no	NA
AFTPH	HGNC:25951	MGI:1923012	-	-	yes	no	no	no	NA
AGA	HGNC:318	MGI:104873	OMIM:208400|ORPHA:93	Aspartylglucosaminuria	no	no	no	no	NA
AGAP1	HGNC:16922	MGI:2653690	-	-	yes	no	no	no	NA
AGAP2	HGNC:16921	MGI:3580016	-	-	no	no	no	no	NA
AGAP3	HGNC:16923	MGI:2183446	-	-	no	no	no	no	NA
AGBL1	HGNC:26504	MGI:3646469	OMIM:615523|ORPHA:98974	Corneal Dystrophy, Fuchs Endothelial, 8|Fuchs Endothelial Corneal Dystrophy	yes	yes	yes	yes	43.615
AGBL2	HGNC:26296	MGI:2443254	-	-	yes	no	no	no	NA
AGBL3	HGNC:27981	MGI:1923473	-	-	no	no	no	no	NA
AGBL4	HGNC:25892	MGI:1918244	-	-	yes	no	no	no	NA
AGBL5	HGNC:26147	MGI:2441745	OMIM:617023|ORPHA:791	Retinitis Pigmentosa 75|Retinitis Pigmentosa	yes	no	yes	no	NA
AGER	HGNC:320	MGI:893592	-	-	no	no	no	no	NA
AGFG1	HGNC:5175	MGI:1333754	-	-	no	no	no	no	NA
AGFG2	HGNC:5177	MGI:2443267	-	-	yes	no	no	no	NA
AGGF1	HGNC:24684	MGI:1913799	ORPHA:90308	Klippel-Trénaunay Syndrome	no	no	no	no	NA
AGK	HGNC:21869	MGI:1917173	OMIM:614691|OMIM:212350|ORPHA:1369|ORPHA:98994	Cataract 38|Sengers Syndrome|Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome|Total Early-Onset Cataract	no	no	no	no	NA
AGL	HGNC:321	MGI:1924809	OMIM:232400|ORPHA:366	Glycogen Storage Disease Iii|Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	yes	yes	yes	yes	58.45
AGMAT	HGNC:18407	MGI:1923236	-	-	no	no	no	no	NA
AGMO	HGNC:33784	MGI:2442495	-	-	yes	no	no	no	NA
AGO1	HGNC:3262	MGI:2446630	OMIM:620292|ORPHA:528084	Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures|Non-Specific Syndromic Intellectual Disability	yes	yes	yes	no	NA
AGO2	HGNC:3263	MGI:2446632	OMIM:619149|ORPHA:528084	Lessel-Kreienkamp Syndrome|Non-Specific Syndromic Intellectual Disability	no	no	no	no	NA
AGO3	HGNC:18421	MGI:2446634	-	-	yes	no	no	no	NA
AGO4	HGNC:18424	MGI:1924100	-	-	no	no	no	no	NA
AGPAT1	HGNC:324	MGI:1932075	-	-	yes	no	no	no	NA
AGPAT2	HGNC:325	MGI:1914762	OMIM:608594|ORPHA:528	Lipodystrophy, Congenital Generalized, Type 1|Congenital Generalized Lipodystrophy	no	no	no	no	NA
AGPAT3	HGNC:326	MGI:1336186	-	-	yes	no	no	no	NA
AGPAT4	HGNC:20885	MGI:1915512	-	-	yes	no	no	no	NA
AGPAT5	HGNC:20886	MGI:1196345	-	-	yes	no	no	no	NA
AGPS	HGNC:327	MGI:2443065	OMIM:600121|ORPHA:309803	Rhizomelic Chondrodysplasia Punctata, Type 3|Rhizomelic Chondrodysplasia Punctata Type 3	no	no	no	no	NA
AGR2	HGNC:328	MGI:1344405	OMIM:620233	Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	no	no	no	no	NA
AGR3	HGNC:24167	MGI:2685734	-	-	yes	no	no	no	NA
AGRN	HGNC:329	MGI:87961	OMIM:615120|ORPHA:98914|ORPHA:98913	Myasthenic Syndrome, Congenital, 8|Presynaptic Congenital Myasthenic Syndromes|Postsynaptic Congenital Myasthenic Syndromes	no	no	no	no	NA
AGRP	HGNC:330	MGI:892013	OMIM:601665	Obesity	no	no	no	no	NA
AGT	HGNC:333	MGI:87963	OMIM:145500|OMIM:267430|ORPHA:243761|ORPHA:97369	Hypertension, Essential|Renal Tubular Dysgenesis|Non Rare In Europe: Essential Hypertension|Renal Tubular Dysgenesis Of Genetic Origin	no	no	no	no	NA
AGTPBP1	HGNC:17258	MGI:2159437	OMIM:618276|ORPHA:2254	Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy|Pontocerebellar Hypoplasia Type 1	no	no	no	no	NA
AGTR2	HGNC:338	MGI:87966	ORPHA:777	X-Linked Non-Syndromic Intellectual Disability	yes	yes	no	no	NA
AGTRAP	HGNC:13539	MGI:1339977	-	-	yes	no	no	no	NA
AGXT	HGNC:341	MGI:1329033	OMIM:259900|ORPHA:93598	Hyperoxaluria, Primary, Type I|Primary Hyperoxaluria Type 1	no	no	no	no	NA
AGXT2	HGNC:14412	MGI:2146052	OMIM:210100	Beta-Aminoisobutyric Aciduria	yes	yes	yes	no	NA
AHCTF1	HGNC:24618	MGI:1915033	-	-	yes	no	no	no	NA
AHCYL1	HGNC:344	MGI:2385184	-	-	yes	no	no	no	NA
AHCYL2	HGNC:22204	MGI:1921590	-	-	no	no	no	no	NA
AHDC1	HGNC:25230	MGI:2444218	OMIM:615829|ORPHA:412069	Xia-Gibbs Syndrome|Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome	yes	yes	yes	yes	22.8
AHI1	HGNC:21575	MGI:87971	OMIM:608629|ORPHA:791|ORPHA:475|ORPHA:220493	Joubert Syndrome 3|Retinitis Pigmentosa|Joubert Syndrome|Joubert Syndrome With Ocular Defect	no	no	no	no	NA
AHNAK	HGNC:347	MGI:1316648	-	-	yes	no	no	no	NA
AHNAK2	HGNC:20125	MGI:2144831	-	-	yes	no	no	no	NA
AHR	HGNC:348	MGI:105043	OMIM:618345|ORPHA:791	Retinitis Pigmentosa 85|Retinitis Pigmentosa	no	no	no	no	NA
AHRR	HGNC:346	MGI:1333776	-	-	yes	no	no	no	NA
AHSA1	HGNC:1189	MGI:2387603	-	-	yes	no	no	no	NA
AHSG	HGNC:349	MGI:107189	OMIM:203650|ORPHA:2850	Alopecia-Intellectual Disability Syndrome 1|Alopecia-Intellectual Disability Syndrome	yes	yes	yes	yes	38.195
AICDA	HGNC:13203	MGI:1342279	OMIM:605258|ORPHA:101089	Immunodeficiency With Hyper-Igm, Type 2|Hyper-Igm Syndrome Type 2	yes	yes	yes	no	NA
AIDA	HGNC:25761	MGI:1919737	-	-	no	no	no	no	NA
AIF1	HGNC:352	MGI:1343098	-	-	yes	no	no	no	NA
AIF1L	HGNC:28904	MGI:1919598	-	-	yes	no	no	no	NA
AIFM1	HGNC:8768	MGI:1349419	OMIM:300816|OMIM:310490|OMIM:300614|OMIM:300232|ORPHA:139583|ORPHA:238329|ORPHA:83629|ORPHA:101078	Combined Oxidative Phosphorylation Deficiency 6|Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, With Or Without Cerebellar Ataxia|Deafness, X-Linked 5, With Peripheral Neuropathy|Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy|X-Linked Hereditary Sensory And Autonomic Neuropathy With Deafness|Severe X-Linked Mitochondrial Encephalomyopathy|Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome|X-Linked Charcot-Marie-Tooth Disease Type 4	no	no	no	no	NA
AIFM2	HGNC:21411	MGI:1918611	-	-	yes	no	no	no	NA
AIFM3	HGNC:26398	MGI:1919418	-	-	yes	no	no	no	NA
AIG1	HGNC:21607	MGI:1913503	-	-	yes	no	no	no	NA
AIM2	HGNC:357	MGI:2686159	-	-	yes	no	no	no	NA
AIMP1	HGNC:10648	MGI:102774	OMIM:260600|ORPHA:280293|ORPHA:88616	Leukodystrophy, Hypomyelinating, 3|Pelizaeus-Merzbacher-Like Disease Due To Aimp1 Mutation|Autosomal Recessive Non-Syndromic Intellectual Disability	yes	yes	yes	no	NA
AIMP2	HGNC:20609	MGI:2385237	OMIM:618006	Leukodystrophy, Hypomyelinating, 17	no	no	no	no	NA
AIP	HGNC:358	MGI:109622	OMIM:102200|ORPHA:963|ORPHA:2965|ORPHA:314777|ORPHA:314786|ORPHA:314790|ORPHA:99725	Pituitary Adenoma 1, Multiple Types|Acromegaly|Prolactinoma|Familial Isolated Pituitary Adenoma|Silent Pituitary Adenoma|Null Pituitary Adenoma|Pituitary Gigantism	no	no	no	no	NA
AIPL1	HGNC:359	MGI:2148800	OMIM:604393|ORPHA:1872|ORPHA:65	Leber Congenital Amaurosis 4|Cone Rod Dystrophy|Leber Congenital Amaurosis	no	no	no	no	NA
AIRE	HGNC:360	MGI:1338803	OMIM:240300|ORPHA:189466|ORPHA:3453	Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia|Familial Isolated Hypoparathyroidism Due To Impaired Pth Secretion|Autoimmune Polyendocrinopathy Type 1	yes	yes	yes	yes	30.86
AIRIM	HGNC:26039	MGI:3041172	-	-	no	no	no	no	NA
AJAP1	HGNC:30801	MGI:2685419	-	-	yes	no	no	no	NA
AJM1	HGNC:37284	MGI:2685842	-	-	no	no	no	no	NA
AJUBA	HGNC:20250	MGI:1341886	-	-	yes	no	no	no	NA
AK1	HGNC:361	MGI:87977	OMIM:612631|ORPHA:86817	Adenylate Kinase Deficiency, Hemolytic Anemia Due To|Hemolytic Anemia Due To Adenylate Kinase Deficiency	no	no	no	no	NA
AK2	HGNC:362	MGI:87978	OMIM:267500|ORPHA:33355	Reticular Dysgenesis	no	no	no	no	NA
AK3	HGNC:17376	MGI:1860835	-	-	yes	no	no	no	NA
AK4	HGNC:363	MGI:87979	-	-	yes	no	no	no	NA
AK5	HGNC:365	MGI:2677491	-	-	no	no	no	no	NA
AK6	HGNC:49151	MGI:5510732	-	-	no	no	no	no	NA
AK7	HGNC:20091	MGI:1926051	OMIM:617965|ORPHA:276234	Spermatogenic Failure 27|Non-Syndromic Male Infertility Due To Sperm Motility Disorder	yes	yes	yes	yes	40.47
AK8	HGNC:26526	MGI:1916120	-	-	no	no	no	no	NA
AK9	HGNC:33814	MGI:2685080	ORPHA:98913	Postsynaptic Congenital Myasthenic Syndromes	no	no	no	no	NA
AKAIN1	HGNC:28285	MGI:2444600	-	-	no	no	no	no	NA
AKAP1	HGNC:367	MGI:104729	-	-	no	no	no	no	NA
AKAP10	HGNC:368	MGI:1890218	-	-	yes	no	no	no	NA
AKAP11	HGNC:369	MGI:2684060	-	-	yes	no	no	no	NA
AKAP12	HGNC:370	MGI:1932576	-	-	no	no	no	no	NA
AKAP13	HGNC:371	MGI:2676556	-	-	yes	no	no	no	NA
AKAP14	HGNC:24061	MGI:3618288	-	-	no	no	no	no	NA
AKAP3	HGNC:373	MGI:1341149	OMIM:620353|ORPHA:137893	Spermatogenic Failure 82|Male Infertility Due To Large-Headed Multiflagellar Polyploid Spermatozoa	no	no	no	no	NA
AKAP4	HGNC:374	MGI:102794	ORPHA:276234	Non-Syndromic Male Infertility Due To Sperm Motility Disorder	no	no	no	no	NA
AKAP5	HGNC:375	MGI:2685104	-	-	no	no	no	no	NA
AKAP6	HGNC:376	MGI:3050566	-	-	no	no	no	no	NA
AKAP7	HGNC:377	MGI:1859150	-	-	yes	no	no	no	NA
AKAP8	HGNC:378	MGI:1928488	-	-	no	no	no	no	NA
AKAP8L	HGNC:29857	MGI:1860606	-	-	yes	no	no	no	NA
AKAP9	HGNC:379	MGI:2178217	OMIM:611820|ORPHA:130|ORPHA:101016	Long Qt Syndrome 11|Brugada Syndrome|Romano-Ward Syndrome	yes	yes	yes	yes	22.95
AKIP1	HGNC:1170	MGI:3041226	-	-	yes	no	no	no	NA
AKIRIN1	HGNC:25744	MGI:1915300	-	-	no	no	no	no	NA
AKIRIN2	HGNC:21407	MGI:1889364	-	-	no	no	no	no	NA
AKNA	HGNC:24108	MGI:2140340	-	-	no	no	no	no	NA
AKNAD1	HGNC:28398	MGI:3584453	-	-	no	no	no	no	NA
AKR1A1	HGNC:380	MGI:1929955	-	-	no	no	no	no	NA
AKR1B1	HGNC:381	MGI:1353494	-	-	yes	no	no	no	NA
AKR1C3	HGNC:386	MGI:2145420	-	-	yes	no	no	no	NA
AKR1D1	HGNC:388	MGI:2384785	OMIM:235555|ORPHA:79303	Bile Acid Synthesis Defect, Congenital, 2|Congenital Bile Acid Synthesis Defect Type 2	yes	yes	yes	yes	20.73
AKR1E2	HGNC:23437	MGI:1914758	-	-	no	no	no	no	NA
AKR7A2	HGNC:389	MGI:107796	-	-	yes	no	no	no	NA
AKT1	HGNC:391	MGI:87986	OMIM:114480|OMIM:114500|OMIM:615109|OMIM:167000|OMIM:176920|ORPHA:201|ORPHA:744|ORPHA:2495	Breast Cancer|Colorectal Cancer|Cowden Syndrome 6|Ovarian Cancer|Proteus Syndrome|Cowden Syndrome|Meningioma	no	no	no	no	NA
AKT1S1	HGNC:28426	MGI:1914855	-	-	no	no	no	no	NA
AKT2	HGNC:392	MGI:104874	OMIM:125853|OMIM:240900|ORPHA:293964|ORPHA:79085	Type 2 Diabetes Mellitus|Hypoinsulinemic Hypoglycemia With Hemihypertrophy|Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy|Akt2-Related Familial Partial Lipodystrophy	yes	yes	yes	yes	50.355
AKT3	HGNC:393	MGI:1345147	OMIM:615937|ORPHA:83473|ORPHA:99802	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2|Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome|Hemimegalencephaly	no	no	no	no	NA
AKTIP	HGNC:16710	MGI:3693832	-	-	yes	no	no	no	NA
ALAD	HGNC:395	MGI:96853	OMIM:612740|ORPHA:100924	Porphyria, Acute Hepatic|Porphyria Due To Ala Dehydratase Deficiency	yes	yes	yes	yes	40.05
ALAS1	HGNC:396	MGI:87989	-	-	yes	no	no	no	NA
ALAS2	HGNC:397	MGI:87990	OMIM:300751|OMIM:300752|ORPHA:443197|ORPHA:75563	Anemia, Sideroblastic, 1|Protoporphyria, Erythropoietic, X-Linked|X-Linked Erythropoietic Protoporphyria|X-Linked Sideroblastic Anemia	no	no	no	no	NA
ALB	HGNC:399	MGI:87991	OMIM:615999|OMIM:616000|ORPHA:276271|ORPHA:86816	Hyperthyroxinemia, Familial Dysalbuminemic|Analbuminemia|Non Rare In Europe: Familial Dysalbuminemic Hyperthyroxinemia|Congenital Analbuminemia	no	no	no	no	NA
ALCAM	HGNC:400	MGI:1313266	-	-	no	no	no	no	NA
ALDH16A1	HGNC:28114	MGI:1916998	-	-	yes	no	no	no	NA
ALDH18A1	HGNC:9722	MGI:1888908	OMIM:616603|OMIM:219150|OMIM:601162|OMIM:616586|ORPHA:447757|ORPHA:447753|ORPHA:447760|ORPHA:35664|ORPHA:90348	Cutis Laxa, Autosomal Dominant 3|Cutis Laxa, Autosomal Recessive, Type Iiia|Spastic Paraplegia 9A, Autosomal Dominant|Spastic Paraplegia 9B, Autosomal Recessive|Autosomal Dominant Spastic Paraplegia Type 9B|Autosomal Dominant Spastic Paraplegia Type 9A|Autosomal Recessive Spastic Paraplegia Type 9B|Aldh18A1-Related De Barsy Syndrome|Autosomal Dominant Cutis Laxa	yes	no	yes	no	NA
ALDH1A2	HGNC:15472	MGI:107928	OMIM:620025	Diaphragmatic Hernia 4, With Cardiovascular Defects	no	no	no	no	NA
ALDH1A3	HGNC:409	MGI:1861722	OMIM:615113|ORPHA:35612|ORPHA:98938	Microphthalmia, Isolated 8|Nanophthalmos|Colobomatous Microphthalmia	yes	yes	yes	yes	62.07
ALDH1B1	HGNC:407	MGI:1919785	-	-	yes	no	no	no	NA
ALDH1L1	HGNC:3978	MGI:1340024	-	-	yes	no	no	no	NA
ALDH1L2	HGNC:26777	MGI:2444680	-	-	yes	no	no	no	NA
ALDH2	HGNC:404	MGI:99600	OMIM:610251	Alcohol Sensitivity, Acute	yes	yes	yes	no	NA
ALDH3A1	HGNC:405	MGI:1353451	-	-	yes	no	no	no	NA
ALDH3A2	HGNC:403	MGI:1353452	OMIM:270200|ORPHA:816	Sjogren-Larsson Syndrome|Sjögren-Larsson Syndrome	yes	yes	yes	no	NA
ALDH3B1	HGNC:410	MGI:1914939	-	-	yes	no	no	no	NA
ALDH4A1	HGNC:406	MGI:2443883	OMIM:239510|ORPHA:79101	Hyperprolinemia, Type Ii|Hyperprolinemia Type 2	no	no	no	no	NA
ALDH5A1	HGNC:408	MGI:2441982	OMIM:271980|ORPHA:22	Succinic Semialdehyde Dehydrogenase Deficiency	no	no	no	no	NA
ALDH6A1	HGNC:7179	MGI:1915077	OMIM:614105|ORPHA:289307	Methylmalonate Semialdehyde Dehydrogenase Deficiency|Developmental Delay Due To Methylmalonate Semialdehyde Dehydrogenase Deficiency	no	no	no	no	NA
ALDH7A1	HGNC:877	MGI:108186	OMIM:266100|ORPHA:3006	Epilepsy, Early-Onset, 4, Vitamin B6-Dependent|Pyridoxine-Dependent Epilepsy	no	no	no	no	NA
ALDH8A1	HGNC:15471	MGI:2653900	-	-	no	no	no	no	NA
ALDH9A1	HGNC:412	MGI:1861622	-	-	yes	no	no	no	NA
ALDOB	HGNC:417	MGI:87995	OMIM:229600|ORPHA:469	Fructose Intolerance, Hereditary|Hereditary Fructose Intolerance	yes	yes	yes	no	NA
ALDOC	HGNC:418	MGI:101863	-	-	yes	no	no	no	NA
ALG1	HGNC:18294	MGI:2384774	OMIM:608540|ORPHA:79327	Congenital Disorder Of Glycosylation, Type Ik|Alg1-Cdg	yes	yes	yes	yes	18.32
ALG11	HGNC:32456	MGI:2142632	OMIM:613661|ORPHA:280071	Congenital Disorder Of Glycosylation, Type Ip|Alg11-Cdg	yes	yes	yes	no	NA
ALG12	HGNC:19358	MGI:2385025	OMIM:607143|ORPHA:79324	Congenital Disorder Of Glycosylation, Type Ig|Alg12-Cdg	no	no	no	no	NA
ALG13	HGNC:30881	MGI:1914824	OMIM:300884|ORPHA:777|ORPHA:324422	Developmental And Epileptic Encephalopathy 36|X-Linked Non-Syndromic Intellectual Disability|Alg13-Cdg	yes	yes	yes	yes	24.055
ALG14	HGNC:28287	MGI:1914039	OMIM:616227|OMIM:619031|OMIM:619036|ORPHA:353327	Myasthenic Syndrome, Congenital, 15|Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies|Myopathy, Epilepsy, And Progressive Cerebral Atrophy|Congenital Myasthenic Syndromes With Glycosylation Defect	yes	yes	yes	no	NA
ALG2	HGNC:23159	MGI:1914731	OMIM:607906|OMIM:616228|ORPHA:353327|ORPHA:79326	Congenital Disorder Of Glycosylation, Type Ii|Myasthenic Syndrome, Congenital, 14|Congenital Myasthenic Syndromes With Glycosylation Defect|Alg2-Cdg	yes	yes	yes	yes	15.92
ALG3	HGNC:23056	MGI:1098592	OMIM:601110|ORPHA:79321	Congenital Disorder Of Glycosylation, Type Id|Alg3-Cdg	yes	yes	yes	no	NA
ALG5	HGNC:20266	MGI:1913498	OMIM:620056|ORPHA:730	Polycystic Kidney Disease 7|Autosomal Dominant Polycystic Kidney Disease	no	no	no	no	NA
ALG6	HGNC:23157	MGI:2444031	OMIM:603147|ORPHA:79320	Congenital Disorder Of Glycosylation, Type Ic|Alg6-Cdg	yes	yes	yes	no	NA
ALG8	HGNC:23161	MGI:2141959	OMIM:608104|OMIM:617874|ORPHA:79325	Congenital Disorder Of Glycosylation, Type Ih|Polycystic Liver Disease 3 With Or Without Kidney Cysts|Alg8-Cdg	yes	yes	yes	yes	34.38
ALG9	HGNC:15672	MGI:1924753	OMIM:608776|OMIM:263210|ORPHA:730|ORPHA:79328	Congenital Disorder Of Glycosylation, Type Il|Gillessen-Kaesbach-Nishimura Syndrome|Autosomal Dominant Polycystic Kidney Disease|Alg9-Cdg	yes	yes	yes	yes	30.865
ALK	HGNC:427	MGI:103305	OMIM:613014|ORPHA:635|ORPHA:178342|ORPHA:146|ORPHA:364043|ORPHA:300895	Neuroblastoma, Susceptibility To, 3|Neuroblastoma|Inflammatory Myofibroblastic Tumor|Differentiated Thyroid Carcinoma|Alk-Positive Large B-Cell Lymphoma|Alk-Positive Anaplastic Large Cell Lymphoma	no	no	no	no	NA
ALKAL1	HGNC:33775	MGI:3645495	-	-	no	no	no	no	NA
ALKAL2	HGNC:27683	MGI:3697448	-	-	yes	no	no	no	NA
ALKBH1	HGNC:17911	MGI:2384034	-	-	yes	no	no	no	NA
ALKBH2	HGNC:32487	MGI:2141032	-	-	no	no	no	no	NA
ALKBH3	HGNC:30141	MGI:1916363	-	-	yes	no	no	no	NA
ALKBH4	HGNC:21900	MGI:1919291	-	-	no	no	no	no	NA
ALKBH5	HGNC:25996	MGI:2144489	-	-	no	no	no	no	NA
ALKBH6	HGNC:28243	MGI:2142037	-	-	yes	no	no	no	NA
ALKBH7	HGNC:21306	MGI:1913650	-	-	no	no	no	no	NA
ALKBH8	HGNC:25189	MGI:1914917	OMIM:618504|ORPHA:88616	Intellectual Developmental Disorder, Autosomal Recessive 71|Autosomal Recessive Non-Syndromic Intellectual Disability	yes	yes	yes	yes	22.72
ALLC	HGNC:17377	MGI:2136971	-	-	no	no	no	no	NA
ALMS1	HGNC:428	MGI:1934606	OMIM:203800|ORPHA:64	Alstrom Syndrome|Alström Syndrome	yes	yes	yes	yes	21.13
ALOX12	HGNC:429	MGI:87998	-	-	no	no	no	no	NA
ALOX12B	HGNC:430	MGI:1274782	OMIM:242100|ORPHA:313|ORPHA:281122|ORPHA:79394	Ichthyosis, Congenital, Autosomal Recessive 2|Lamellar Ichthyosis|Self-Improving Collodion Baby|Congenital Ichthyosiform Erythroderma	no	no	no	no	NA
ALOX15	HGNC:433	MGI:87997	-	-	yes	no	no	no	NA
ALOX15B	HGNC:434	MGI:1098228	-	-	no	no	no	no	NA
ALOX5	HGNC:435	MGI:87999	OMIM:600807	Asthma, Susceptibility To	no	no	no	no	NA
ALOX5AP	HGNC:436	MGI:107505	OMIM:601367	Stroke, Ischemic	no	no	no	no	NA
ALOXE3	HGNC:13743	MGI:1345140	OMIM:606545|ORPHA:313|ORPHA:281122|ORPHA:79394	Ichthyosis, Congenital, Autosomal Recessive 3|Lamellar Ichthyosis|Self-Improving Collodion Baby|Congenital Ichthyosiform Erythroderma	yes	yes	yes	yes	19.715
ALPK1	HGNC:20917	MGI:1918731	OMIM:614979|ORPHA:313800	Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome|Retinal Dystrophy-Optic Nerve Edema-Splenomegaly-Anhidrosis-Migraine Headache Syndrome	yes	no	yes	no	NA
ALPK2	HGNC:20565	MGI:2449492	-	-	yes	no	no	no	NA
ALPK3	HGNC:17574	MGI:2151224	OMIM:618052	Cardiomyopathy, Familial Hypertrophic, 27	yes	yes	yes	yes	63
ALPL	HGNC:438	MGI:87983	OMIM:146300|OMIM:241510|OMIM:241500|ORPHA:247685|ORPHA:247623|ORPHA:247638|ORPHA:247651|ORPHA:247667|ORPHA:247676	Hypophosphatasia, Adult|Hypophosphatasia, Childhood|Hypophosphatasia, Infantile|Odontohypophosphatasia|Perinatal Lethal Hypophosphatasia|Prenatal Benign Hypophosphatasia|Infantile Hypophosphatasia|Childhood-Onset Hypophosphatasia|Adult Hypophosphatasia	no	no	no	no	NA
ALS2	HGNC:443	MGI:1921268	OMIM:205100|OMIM:606353|OMIM:607225|ORPHA:247604|ORPHA:293168|ORPHA:300605	Amyotrophic Lateral Sclerosis 2, Juvenile|Primary Lateral Sclerosis, Juvenile|Spastic Paralysis, Infantile-Onset Ascending|Juvenile Primary Lateral Sclerosis|Infantile-Onset Ascending Hereditary Spastic Paralysis|Juvenile Amyotrophic Lateral Sclerosis	no	no	no	no	NA
ALS2CL	HGNC:20605	MGI:2447532	-	-	yes	no	no	no	NA
ALX1	HGNC:1494	MGI:104621	OMIM:613456|ORPHA:306542	Frontonasal Dysplasia 3|Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	no	no	no	no	NA
ALX3	HGNC:449	MGI:1277097	OMIM:136760|ORPHA:391474	Frontonasal Dysplasia 1|Frontorhiny	no	no	no	no	NA
ALX4	HGNC:450	MGI:108359	OMIM:613451|OMIM:609597|OMIM:615529|ORPHA:228390|ORPHA:60015|ORPHA:35093|ORPHA:52022	Frontonasal Dysplasia 2|Parietal Foramina 2|Craniosynostosis 5, Susceptibility To|Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome|Enlarged Parietal Foramina|Non-Syndromic Sagittal Craniosynostosis|Potocki-Shaffer Syndrome	no	no	no	no	NA
ALYREF	HGNC:19071	MGI:1341044	-	-	no	no	no	no	NA
AMACR	HGNC:451	MGI:1098273	OMIM:614307|OMIM:214950|ORPHA:79095	Alpha-Methylacyl-Coa Racemase Deficiency|Bile Acid Synthesis Defect, Congenital, 4|Congenital Bile Acid Synthesis Defect Type 4	no	no	no	no	NA
AMBN	HGNC:452	MGI:104655	OMIM:616270|ORPHA:100031	Amelogenesis Imperfecta, Type If|Hypoplastic Amelogenesis Imperfecta	yes	yes	yes	no	NA
AMBP	HGNC:453	MGI:88002	-	-	no	no	no	no	NA
AMBRA1	HGNC:25990	MGI:2443564	-	-	yes	no	no	no	NA
AMDHD1	HGNC:28577	MGI:1919011	-	-	yes	no	no	no	NA
AMDHD2	HGNC:24262	MGI:2443978	-	-	no	no	no	no	NA
AMELX	HGNC:461	MGI:88005	OMIM:301200|ORPHA:100033	Amelogenesis Imperfecta, Type Ie|Hypomaturation Amelogenesis Imperfecta	yes	yes	yes	yes	52.915
AMER1	HGNC:26837	MGI:1919595	OMIM:300373|ORPHA:2780	Osteopathia Striata With Cranial Sclerosis|Osteopathia Striata-Cranial Sclerosis Syndrome	no	no	no	no	NA
AMER2	HGNC:26360	MGI:1919375	-	-	no	no	no	no	NA
AMER3	HGNC:26771	MGI:3026939	-	-	no	no	no	no	NA
AMFR	HGNC:463	MGI:1345634	OMIM:620379	Spastic Paraplegia 89, Autosomal Recessive	yes	yes	yes	yes	30.015
AMH	HGNC:464	MGI:88006	OMIM:261550|ORPHA:2856	Persistent Mullerian Duct Syndrome, Types I And Ii|Persistent Müllerian Duct Syndrome	no	no	no	no	NA
AMHR2	HGNC:465	MGI:105062	OMIM:261550|ORPHA:2856	Persistent Mullerian Duct Syndrome, Types I And Ii|Persistent Müllerian Duct Syndrome	no	no	no	no	NA
AMIGO1	HGNC:20824	MGI:2653612	-	-	yes	no	no	no	NA
AMIGO2	HGNC:24073	MGI:2145995	-	-	yes	no	no	no	NA
AMIGO3	HGNC:24075	MGI:2444854	-	-	yes	no	no	no	NA
AMMECR1	HGNC:467	MGI:1860206	OMIM:300990|ORPHA:86818	Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis|Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	no	no	no	no	NA
AMMECR1L	HGNC:28658	MGI:2442711	-	-	yes	no	no	no	NA
AMN	HGNC:14604	MGI:1934943	OMIM:618882|ORPHA:35858	Imerslund-Grasbeck Syndrome 2|Imerslund-Gräsbeck Syndrome	no	no	no	no	NA
AMN1	HGNC:27281	MGI:2442933	-	-	no	no	no	no	NA
AMOT	HGNC:17810	MGI:108440	-	-	no	no	no	no	NA
AMOTL1	HGNC:17811	MGI:1922973	-	-	yes	no	no	no	NA
AMOTL2	HGNC:17812	MGI:1929286	-	-	no	no	no	no	NA
AMPD1	HGNC:468	MGI:88015	OMIM:615511|ORPHA:45	Myopathy Due To Myoadenylate Deaminase Deficiency|Adenosine Monophosphate Deaminase Deficiency	yes	yes	yes	no	NA
AMPD2	HGNC:469	MGI:88016	OMIM:615686|OMIM:615809|ORPHA:369920|ORPHA:401805	Spastic Paraplegia 63, Autosomal Recessive|Pontocerebellar Hypoplasia, Type 9|Pontocerebellar Hypoplasia Type 9|Autosomal Recessive Spastic Paraplegia Type 63	yes	yes	yes	no	NA
AMPD3	HGNC:470	MGI:1096344	OMIM:612874|ORPHA:45	Erythrocyte Amp Deaminase Deficiency|Adenosine Monophosphate Deaminase Deficiency	yes	yes	yes	yes	24.395
AMPH	HGNC:471	MGI:103574	-	-	no	no	no	no	NA
AMT	HGNC:473	MGI:3646700	OMIM:620398|ORPHA:289863|ORPHA:289857|ORPHA:289860	Glycine Encephalopathy 2|Atypical Glycine Encephalopathy|Neonatal Glycine Encephalopathy|Infantile Glycine Encephalopathy	yes	yes	yes	no	NA
AMTN	HGNC:33188	MGI:1918671	OMIM:617607|ORPHA:100032	Amelogenesis Imperfecta, Type Iiib|Hypocalcified Amelogenesis Imperfecta	yes	yes	yes	no	NA
AMZ1	HGNC:22231	MGI:2442258	-	-	no	no	no	no	NA
AMZ2	HGNC:28041	MGI:104837	-	-	yes	no	no	no	NA
ANAPC1	HGNC:19988	MGI:103097	OMIM:618625|ORPHA:221008	Rothmund-Thomson Syndrome, Type 1|Rothmund-Thomson Syndrome Type 1	yes	yes	yes	yes	42.12
ANAPC10	HGNC:24077	MGI:1916249	-	-	yes	no	no	no	NA
ANAPC11	HGNC:14452	MGI:1913406	-	-	no	no	no	no	NA
ANAPC13	HGNC:24540	MGI:1916260	-	-	yes	no	no	no	NA
ANAPC15	HGNC:24531	MGI:1922680	-	-	yes	no	no	no	NA
ANAPC16	HGNC:26976	MGI:1289325	-	-	no	no	no	no	NA
ANAPC2	HGNC:19989	MGI:2139135	-	-	no	no	no	no	NA
ANAPC4	HGNC:19990	MGI:1098673	-	-	yes	no	no	no	NA
ANAPC5	HGNC:15713	MGI:1929722	-	-	yes	no	no	no	NA
ANAPC7	HGNC:17380	MGI:1929711	OMIM:619699	Ferguson-Bonni Neurodevelopmental Syndrome	yes	yes	yes	yes	29.755
ANGEL1	HGNC:19961	MGI:1915987	-	-	yes	no	no	no	NA
ANGEL2	HGNC:30534	MGI:1196310	-	-	yes	no	no	no	NA
ANGPT1	HGNC:484	MGI:108448	OMIM:619361|ORPHA:599418	Angioedema, Hereditary, 5|Hereditary Angioedema With Normal C1Inh Not Related To F12 Or Plg Variant	no	no	no	no	NA
ANGPT2	HGNC:485	MGI:1202890	OMIM:619369|ORPHA:363999|ORPHA:79452	Lymphatic Malformation 10|Non-Immune Hydrops Fetalis|Milroy Disease	yes	yes	yes	yes	28.505
ANGPT4	HGNC:487	MGI:1336887	-	-	no	no	no	no	NA
ANGPTL1	HGNC:489	MGI:1919963	-	-	yes	no	no	no	NA
ANGPTL2	HGNC:490	MGI:1347002	-	-	no	no	no	no	NA
ANGPTL3	HGNC:491	MGI:1353627	OMIM:605019|ORPHA:426	Hypobetalipoproteinemia, Familial, 2|Non Rare In Europe: Familial Hypobetalipoproteinemia	yes	yes	yes	yes	48.24
ANGPTL4	HGNC:16039	MGI:1888999	OMIM:615881	Plasma Triglyceride Level Quantitative Trait Locus	yes	yes	no	no	NA
ANGPTL6	HGNC:23140	MGI:1917976	ORPHA:231160	Familial Cerebral Saccular Aneurysm	no	no	no	no	NA
ANGPTL7	HGNC:24078	MGI:3605801	-	-	no	no	no	no	NA
ANGPTL8	HGNC:24933	MGI:3643534	-	-	yes	no	no	no	NA
ANK1	HGNC:492	MGI:88024	OMIM:182900|ORPHA:251066|ORPHA:822	Spherocytosis, Type 1|8P11.2 Deletion Syndrome|Hereditary Spherocytosis	no	no	no	no	NA
ANK2	HGNC:493	MGI:88025	OMIM:600919|ORPHA:101016	Cardiac Arrhythmia, Ankyrin-B-Related|Romano-Ward Syndrome	no	no	no	no	NA
ANK3	HGNC:494	MGI:88026	OMIM:615493|ORPHA:356996	Intellectual Developmental Disorder, Autosomal Recessive 37|Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	yes	yes	yes	no	NA
ANKAR	HGNC:26350	MGI:2442559	-	-	no	no	no	no	NA
ANKDD1A	HGNC:28002	MGI:2686319	-	-	no	no	no	no	NA
ANKDD1B	HGNC:32525	MGI:2444730	-	-	no	no	no	no	NA
ANKEF1	HGNC:15803	MGI:2441685	-	-	no	no	no	no	NA
ANKFN1	HGNC:26766	MGI:2686021	-	-	no	no	no	no	NA
ANKFY1	HGNC:20763	MGI:1337008	ORPHA:656	Genetic Steroid-Resistant Nephrotic Syndrome	yes	yes	yes	no	NA
ANKH	HGNC:15492	MGI:3045421	OMIM:118600|OMIM:123000|ORPHA:1416|ORPHA:1522	Chondrocalcinosis 2|Craniometaphyseal Dysplasia, Autosomal Dominant|Familial Calcium Pyrophosphate Deposition|Craniometaphyseal Dysplasia	no	no	no	no	NA
ANKIB1	HGNC:22215	MGI:1918047	-	-	yes	no	no	no	NA
ANKK1	HGNC:21027	MGI:3045301	-	-	no	no	no	no	NA
ANKLE1	HGNC:26812	MGI:1918775	-	-	yes	no	no	no	NA
ANKLE2	HGNC:29101	MGI:1261856	OMIM:616681|ORPHA:2512	Microcephaly 16, Primary, Autosomal Recessive|Autosomal Recessive Primary Microcephaly	yes	yes	yes	no	NA
ANKMY1	HGNC:20987	MGI:3045261	-	-	no	no	no	no	NA
ANKMY2	HGNC:25370	MGI:2144755	-	-	yes	no	no	no	NA
ANKRA2	HGNC:13208	MGI:1915808	-	-	no	no	no	no	NA
ANKRD1	HGNC:15819	MGI:1097717	ORPHA:154	Familial Isolated Dilated Cardiomyopathy	yes	yes	yes	no	NA
ANKRD10	HGNC:20265	MGI:1921840	-	-	yes	no	no	no	NA
ANKRD11	HGNC:21316	MGI:1924337	OMIM:148050|ORPHA:2332|ORPHA:261250	Kbg Syndrome|16Q24.3 Microdeletion Syndrome	yes	yes	yes	yes	30.85
ANKRD12	HGNC:29135	MGI:1914357	-	-	yes	no	no	no	NA
ANKRD13A	HGNC:21268	MGI:1915670	-	-	yes	no	no	no	NA
ANKRD13B	HGNC:26363	MGI:2144501	-	-	yes	no	no	no	NA
ANKRD13C	HGNC:25374	MGI:2139746	-	-	yes	no	no	no	NA
ANKRD13D	HGNC:27880	MGI:1915673	-	-	yes	no	no	no	NA
ANKRD16	HGNC:23471	MGI:2444796	-	-	no	no	no	no	NA
ANKRD17	HGNC:23575	MGI:1932101	OMIM:619504|ORPHA:528084	Chopra-Amiel-Gordon Syndrome|Non-Specific Syndromic Intellectual Disability	no	no	no	no	NA
ANKRD2	HGNC:495	MGI:1861447	-	-	no	no	no	no	NA
ANKRD22	HGNC:28321	MGI:1277101	-	-	yes	no	no	no	NA
ANKRD23	HGNC:24470	MGI:1925571	-	-	no	no	no	no	NA
ANKRD24	HGNC:29424	MGI:1890394	-	-	yes	no	no	no	NA
ANKRD26	HGNC:29186	MGI:1917887	OMIM:188000|ORPHA:168629|ORPHA:71290	Thrombocytopenia 2|Autosomal Thrombocytopenia With Normal Platelets|Familial Platelet Disorder With Associated Myeloid Malignancy	no	no	no	no	NA
ANKRD27	HGNC:25310	MGI:2444103	-	-	yes	no	no	no	NA
ANKRD28	HGNC:29024	MGI:2145661	-	-	yes	no	no	no	NA
ANKRD29	HGNC:27110	MGI:2687055	-	-	no	no	no	no	NA
ANKRD31	HGNC:26853	MGI:5006716	-	-	no	no	no	no	NA
ANKRD33	HGNC:13788	MGI:2443398	-	-	no	no	no	no	NA
ANKRD33B	HGNC:35240	MGI:1917904	-	-	no	no	no	no	NA
ANKRD34A	HGNC:27639	MGI:3617846	-	-	no	no	no	no	NA
ANKRD34B	HGNC:33736	MGI:2443245	-	-	no	no	no	no	NA
ANKRD34C	HGNC:33888	MGI:2685617	-	-	no	no	no	no	NA
ANKRD35	HGNC:26323	MGI:2442590	-	-	yes	no	no	no	NA
ANKRD37	HGNC:29593	MGI:3603344	-	-	no	no	no	no	NA
ANKRD39	HGNC:28640	MGI:1914816	-	-	no	no	no	no	NA
ANKRD40	HGNC:28233	MGI:1918702	-	-	no	no	no	no	NA
ANKRD40CL	HGNC:26080	MGI:5434049	-	-	no	no	no	no	NA
ANKRD42	HGNC:26752	MGI:1921095	-	-	no	no	no	no	NA
ANKRD44	HGNC:25259	MGI:3045243	-	-	yes	no	no	no	NA
ANKRD45	HGNC:24786	MGI:1921094	-	-	yes	no	no	no	NA
ANKRD46	HGNC:27229	MGI:1916089	-	-	no	no	no	no	NA
ANKRD49	HGNC:25970	MGI:1930842	-	-	no	no	no	no	NA
ANKRD50	HGNC:29223	MGI:2139777	-	-	yes	no	no	no	NA
ANKRD52	HGNC:26614	MGI:2444029	-	-	yes	no	no	no	NA
ANKRD53	HGNC:25691	MGI:1922555	-	-	yes	no	no	no	NA
ANKRD54	HGNC:25185	MGI:2444209	-	-	no	no	no	no	NA
ANKRD55	HGNC:25681	MGI:1924568	ORPHA:802|ORPHA:85410|ORPHA:85408	Non Rare In Europe: Multiple Sclerosis|Oligoarticular Juvenile Idiopathic Arthritis|Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	no	no	no	no	NA
ANKRD6	HGNC:17280	MGI:2154278	-	-	yes	no	no	no	NA
ANKRD60	HGNC:16217	MGI:1917315	-	-	no	no	no	no	NA
ANKRD61	HGNC:22467	MGI:1913979	-	-	no	no	no	no	NA
ANKRD63	HGNC:40027	MGI:2686183	-	-	no	no	no	no	NA
ANKRD65	HGNC:42950	MGI:2685285	-	-	yes	no	no	no	NA
ANKRD66	HGNC:44669	MGI:1925106	-	-	no	no	no	no	NA
ANKRD7	HGNC:18588	MGI:1922446	-	-	yes	no	no	no	NA
ANKRD9	HGNC:20096	MGI:1921501	-	-	yes	no	no	no	NA
ANKS1A	HGNC:20961	MGI:2446180	-	-	yes	no	no	no	NA
ANKS1B	HGNC:24600	MGI:1924781	-	-	yes	no	no	no	NA
ANKS3	HGNC:29422	MGI:1919865	ORPHA:101063	Situs Inversus Totalis	yes	yes	no	no	NA
ANKS4B	HGNC:26795	MGI:1919324	-	-	yes	no	no	no	NA
ANKS6	HGNC:26724	MGI:1922941	OMIM:615382|ORPHA:93591|ORPHA:93592	Nephronophthisis 16|Infantile Nephronophthisis|Juvenile Nephronophthisis	yes	yes	yes	no	NA
ANKUB1	HGNC:29642	MGI:2685256	-	-	yes	no	no	no	NA
ANKZF1	HGNC:25527	MGI:1098746	-	-	yes	no	no	no	NA
ANLN	HGNC:14082	MGI:1920174	OMIM:616032|ORPHA:656	Focal Segmental Glomerulosclerosis 8|Genetic Steroid-Resistant Nephrotic Syndrome	yes	yes	yes	no	NA
ANO1	HGNC:21625	MGI:2142149	OMIM:620045	Intestinal Dysmotility Syndrome	no	no	no	no	NA
ANO10	HGNC:25519	MGI:2143103	OMIM:613728|ORPHA:284289	Spinocerebellar Ataxia, Autosomal Recessive 10|Adult-Onset Autosomal Recessive Cerebellar Ataxia	yes	no	yes	no	NA
ANO2	HGNC:1183	MGI:2387214	-	-	yes	no	no	no	NA
ANO3	HGNC:14004	MGI:3613666	OMIM:615034|ORPHA:420485	Dystonia 24|Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	yes	yes	yes	no	NA
ANO4	HGNC:23837	MGI:2443344	-	-	yes	no	no	no	NA
ANO5	HGNC:27337	MGI:3576659	OMIM:166260|OMIM:613319|OMIM:611307|ORPHA:206549|ORPHA:399096|ORPHA:53697	Gnathodiaphyseal Dysplasia|Miyoshi Muscular Dystrophy 3|Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12|Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12|Distal Anoctaminopathy	no	no	no	no	NA
ANO6	HGNC:25240	MGI:2145890	OMIM:262890|ORPHA:806	Scott Syndrome	yes	yes	yes	no	NA
ANO7	HGNC:31677	MGI:3052714	-	-	yes	no	no	no	NA
ANO8	HGNC:29329	MGI:2687327	-	-	yes	no	no	no	NA
ANO9	HGNC:20679	MGI:1918595	-	-	no	no	no	no	NA
ANP32A	HGNC:13233	MGI:108447	-	-	no	no	no	no	NA
ANP32B	HGNC:16677	MGI:1914878	-	-	no	no	no	no	NA
ANP32E	HGNC:16673	MGI:1913721	-	-	yes	no	no	no	NA
ANPEP	HGNC:500	MGI:5000466	-	-	yes	no	no	no	NA
ANTKMT	HGNC:14152	MGI:2384888	-	-	yes	no	no	no	NA
ANTXR1	HGNC:21014	MGI:1916788	OMIM:230740|OMIM:602089|ORPHA:2067|ORPHA:464293	Gapo Syndrome|Hemangioma, Capillary Infantile|Non Rare In Europe: Infantile Capillary Hemangioma	no	no	no	no	NA
ANTXR2	HGNC:21732	MGI:1919164	OMIM:228600|ORPHA:2028|ORPHA:2176	Hyaline Fibromatosis Syndrome|Juvenile Hyaline Fibromatosis|Infantile Systemic Hyalinosis	yes	yes	yes	no	NA
ANTXRL	HGNC:27277	MGI:1925726	-	-	yes	no	no	no	NA
ANXA1	HGNC:533	MGI:96819	-	-	yes	no	no	no	NA
ANXA10	HGNC:534	MGI:1347090	-	-	yes	no	no	no	NA
ANXA11	HGNC:535	MGI:108481	OMIM:617839|OMIM:619733|ORPHA:803	Amyotrophic Lateral Sclerosis 23|Inclusion Body Myopathy And Brain White Matter Abnormalities|Amyotrophic Lateral Sclerosis	yes	no	yes	no	NA
ANXA13	HGNC:536	MGI:1917037	-	-	yes	no	no	no	NA
ANXA2	HGNC:537	MGI:88246	-	-	no	no	no	no	NA
ANXA3	HGNC:541	MGI:1201378	-	-	yes	no	no	no	NA
ANXA4	HGNC:542	MGI:88030	-	-	no	no	no	no	NA
ANXA5	HGNC:543	MGI:106008	OMIM:614391	Pregnancy Loss, Recurrent, Susceptibility To, 3	no	no	no	no	NA
ANXA6	HGNC:544	MGI:88255	-	-	yes	no	no	no	NA
ANXA7	HGNC:545	MGI:88031	-	-	no	no	no	no	NA
ANXA9	HGNC:547	MGI:1923711	-	-	yes	no	no	no	NA
AOAH	HGNC:548	MGI:1350928	-	-	yes	no	no	no	NA
AOC2	HGNC:549	MGI:2668431	-	-	no	no	no	no	NA
AOC3	HGNC:550	MGI:1306797	-	-	no	no	no	no	NA
AOPEP	HGNC:1361	MGI:1919311	OMIM:619565	Dystonia 31	yes	yes	yes	yes	39.525
AOX1	HGNC:553	MGI:88035	-	-	no	no	no	no	NA
AP1AR	HGNC:28808	MGI:2384822	-	-	yes	no	no	no	NA
AP1B1	HGNC:554	MGI:1096368	OMIM:242150|ORPHA:171851	Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive|Mednik Syndrome	no	no	no	no	NA
AP1G1	HGNC:555	MGI:101919	OMIM:619467|OMIM:619548|ORPHA:528084	Usmani-Riazuddin Syndrome, Autosomal Dominant|Usmani-Riazuddin Syndrome, Autosomal Recessive|Non-Specific Syndromic Intellectual Disability	yes	yes	yes	yes	49.35
AP1G2	HGNC:556	MGI:1328307	-	-	yes	no	no	no	NA
AP1M1	HGNC:13667	MGI:102776	-	-	no	no	no	no	NA
AP1M2	HGNC:558	MGI:1336974	-	-	no	no	no	no	NA
AP1S1	HGNC:559	MGI:1098244	OMIM:609313|ORPHA:171851	Mednik Syndrome	yes	yes	yes	yes	21.035
AP1S2	HGNC:560	MGI:1889383	OMIM:304340|ORPHA:1568|ORPHA:85329|ORPHA:85335	Pettigrew Syndrome|X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome|X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome|Fried Syndrome	yes	yes	yes	yes	31.97
AP1S3	HGNC:18971	MGI:1891304	OMIM:616106|ORPHA:163931|ORPHA:163927|ORPHA:247353	Psoriasis 15, Pustular, Susceptibility To|Acrodermatitis Continua Of Hallopeau|Pustulosis Palmaris Et Plantaris|Generalized Pustular Psoriasis	yes	yes	yes	yes	20.205
AP2A1	HGNC:561	MGI:101921	-	-	yes	no	no	no	NA
AP2A2	HGNC:562	MGI:101920	-	-	yes	no	no	no	NA
AP2B1	HGNC:563	MGI:1919020	-	-	yes	no	no	no	NA
AP2M1	HGNC:564	MGI:1298405	OMIM:618587|ORPHA:1942	Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures|Myoclonic-Astatic Epilepsy	no	no	no	no	NA
AP2S1	HGNC:565	MGI:2141861	OMIM:600740|ORPHA:101050	Hypocalciuric Hypercalcemia, Familial, Type Iii|Familial Hypocalciuric Hypercalcemia Type 3	yes	yes	yes	yes	27.605
AP3B1	HGNC:566	MGI:1333879	OMIM:608233|ORPHA:183678	Hermansky-Pudlak Syndrome 2|Hermansky-Pudlak Syndrome Due To Ap-3 Deficiency	no	no	no	no	NA
AP3B2	HGNC:567	MGI:1100869	OMIM:617276|ORPHA:442835	Developmental And Epileptic Encephalopathy 48|Non-Specific Early-Onset Epileptic Encephalopathy	yes	yes	yes	yes	51.355
AP3D1	HGNC:568	MGI:107734	OMIM:617050|ORPHA:1000|ORPHA:54	Hermansky-Pudlak Syndrome 10|Ocular Albinism With Late-Onset Sensorineural Deafness|X-Linked Recessive Ocular Albinism	no	no	no	no	NA
AP3M1	HGNC:569	MGI:1929212	-	-	no	no	no	no	NA
AP3M2	HGNC:570	MGI:1929214	-	-	yes	no	no	no	NA
AP3S1	HGNC:2013	MGI:1337062	-	-	yes	no	no	no	NA
AP3S2	HGNC:571	MGI:1337060	-	-	yes	no	no	no	NA
AP4B1	HGNC:572	MGI:1337130	OMIM:614066|ORPHA:280763	Spastic Paraplegia 47, Autosomal Recessive|Severe Intellectual Disability And Progressive Spastic Paraplegia	no	no	no	no	NA
AP4E1	HGNC:573	MGI:1336993	OMIM:613744|OMIM:184450|ORPHA:280763	Spastic Paraplegia 51, Autosomal Recessive|Stuttering, Familial Persistent, 1|Severe Intellectual Disability And Progressive Spastic Paraplegia	yes	yes	yes	yes	33.51
AP4M1	HGNC:574	MGI:1337063	OMIM:612936|ORPHA:280763	Spastic Paraplegia 50, Autosomal Recessive|Severe Intellectual Disability And Progressive Spastic Paraplegia	yes	yes	yes	no	NA
AP4S1	HGNC:575	MGI:1337065	OMIM:614067|ORPHA:280763	Spastic Paraplegia 52, Autosomal Recessive|Severe Intellectual Disability And Progressive Spastic Paraplegia	yes	no	yes	no	NA
AP5B1	HGNC:25104	MGI:2685808	-	-	no	no	no	no	NA
AP5M1	HGNC:20192	MGI:1921635	-	-	yes	no	no	no	NA
AP5S1	HGNC:15875	MGI:1916846	-	-	no	no	no	no	NA
AP5Z1	HGNC:22197	MGI:1924908	OMIM:613647|ORPHA:306511	Spastic Paraplegia 48, Autosomal Recessive|Autosomal Recessive Spastic Paraplegia Type 48	yes	yes	yes	no	NA
APAF1	HGNC:576	MGI:1306796	-	-	no	no	no	no	NA
APBA1	HGNC:578	MGI:1860297	-	-	no	no	no	no	NA
APBA2	HGNC:579	MGI:1261791	-	-	no	no	no	no	NA
APBA3	HGNC:580	MGI:1888527	-	-	no	no	no	no	NA
APBB1	HGNC:581	MGI:107765	-	-	no	no	no	no	NA
APBB1IP	HGNC:17379	MGI:1861354	-	-	yes	no	no	no	NA
APBB2	HGNC:582	MGI:108405	-	-	yes	no	no	no	NA
APBB3	HGNC:20708	MGI:108404	-	-	yes	no	no	no	NA
APC	HGNC:583	MGI:88039	OMIM:175100|OMIM:114500|OMIM:135290|OMIM:619182|OMIM:613659|OMIM:114550|ORPHA:247806|ORPHA:261584|ORPHA:3258|ORPHA:314022|ORPHA:873|ORPHA:79665|ORPHA:99818	Familial Adenomatous Polyposis 1|Colorectal Cancer|Desmoid Disease, Hereditary|Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach|Gastric Cancer|Hepatocellular Carcinoma|Apc-Related Attenuated Familial Adenomatous Polyposis|Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion|Cenani-Lenz Syndrome|Desmoid Tumor|Gardner Syndrome|Turcot Syndrome With Polyposis	no	no	no	no	NA
APC2	HGNC:24036	MGI:1346052	OMIM:618677|OMIM:617169|ORPHA:821	Cortical Dysplasia, Complex, With Other Brain Malformations 10|Intellectual Developmental Disorder, Autosomal Recessive 74|Sotos Syndrome	no	no	no	no	NA
APCDD1	HGNC:15718	MGI:3513977	OMIM:605389|ORPHA:55654	Hypotrichosis 1|Hypotrichosis Simplex	yes	yes	yes	no	NA
APCS	HGNC:584	MGI:98229	-	-	no	no	no	no	NA
APEH	HGNC:586	MGI:88041	-	-	yes	no	no	no	NA
APELA	HGNC:48925	MGI:3642370	-	-	no	no	no	no	NA
APEX1	HGNC:587	MGI:88042	-	-	no	no	no	no	NA
APEX2	HGNC:17889	MGI:1924872	-	-	yes	no	no	no	NA
APH1A	HGNC:29509	MGI:2385110	-	-	yes	no	no	no	NA
API5	HGNC:594	MGI:1888993	-	-	no	no	no	no	NA
APIP	HGNC:17581	MGI:1926788	-	-	yes	no	no	no	NA
APLF	HGNC:28724	MGI:1919353	-	-	no	no	no	no	NA
APLN	HGNC:16665	MGI:1353624	-	-	yes	no	no	no	NA
APLNR	HGNC:339	MGI:1346086	-	-	yes	no	no	no	NA
APLP1	HGNC:597	MGI:88046	-	-	no	no	no	no	NA
APLP2	HGNC:598	MGI:88047	-	-	yes	no	no	no	NA
APMAP	HGNC:13238	MGI:1919131	-	-	yes	no	no	no	NA
APOA1	HGNC:600	MGI:88049	OMIM:105200|OMIM:618463|OMIM:619836|ORPHA:425|ORPHA:93560	Amyloidosis, Familial Visceral|Hypoalphalipoproteinemia, Primary, 2|Hypoalphalipoproteinemia, Primary, 2, Intermediate|Apolipoprotein A-I Deficiency|Aapoai Amyloidosis	no	no	no	no	NA
APOA2	HGNC:601	MGI:88050	OMIM:143890|ORPHA:238269	Hypercholesterolemia, Familial, 1|Aapoaii Amyloidosis	no	no	no	no	NA
APOA4	HGNC:602	MGI:88051	-	-	yes	no	no	no	NA
APOA5	HGNC:17288	MGI:1913363	OMIM:144650|OMIM:145750|ORPHA:413|ORPHA:530849	Hyperlipoproteinemia, Type V|Hypertriglyceridemia 1|Non Rare In Europe: Hyperlipoproteinemia Type 4|Familial Apolipoprotein A5 Deficiency	no	no	no	no	NA
APOB	HGNC:603	MGI:88052	OMIM:144010|OMIM:615558|ORPHA:406|ORPHA:391665|ORPHA:426	Hypercholesterolemia, Familial, 2|Hypobetalipoproteinemia, Familial, 1|Non Rare In Europe: Heterozygous Familial Hypercholesterolemia|Homozygous Familial Hypercholesterolemia|Non Rare In Europe: Familial Hypobetalipoproteinemia	no	no	no	no	NA
APOBEC1	HGNC:604	MGI:103298	-	-	yes	no	no	no	NA
APOBEC2	HGNC:605	MGI:1343178	-	-	no	no	no	no	NA
APOBEC3H	HGNC:24100	MGI:1933111	-	-	no	no	no	no	NA
APOBEC4	HGNC:32152	MGI:1918531	-	-	no	no	no	no	NA
APOBR	HGNC:24087	MGI:2176230	-	-	yes	no	no	no	NA
APOC1	HGNC:607	MGI:88053	-	-	no	no	no	no	NA
APOC2	HGNC:609	MGI:88054	OMIM:207750|ORPHA:309020	Apolipoprotein C-Ii Deficiency|Familial Apolipoprotein C-Ii Deficiency	no	no	no	no	NA
APOC3	HGNC:610	MGI:88055	OMIM:614028|ORPHA:426|ORPHA:33271	Apolipoprotein C-Iii Deficiency|Non Rare In Europe: Familial Hypobetalipoproteinemia|Non Rare In Europe: Non-Alcoholic Fatty Liver Disease	no	no	no	no	NA
APOC4	HGNC:611	MGI:87878	-	-	yes	no	no	no	NA
APOD	HGNC:612	MGI:88056	-	-	no	no	no	no	NA
APOE	HGNC:613	MGI:88057	OMIM:104310|OMIM:607822|OMIM:617347|OMIM:611771|OMIM:269600|OMIM:603075|ORPHA:406|ORPHA:158029|ORPHA:412|ORPHA:1648|ORPHA:238616|ORPHA:329481	Alzheimer Disease 2|Alzheimer Disease 3|Hyperlipoproteinemia, Type Iii|Lipoprotein Glomerulopathy|Sea-Blue Histiocyte Disease|Macular Degeneration, Age-Related, 1|Non Rare In Europe: Heterozygous Familial Hypercholesterolemia|Sea-Blue Histiocytosis|Dysbetalipoproteinemia|Non Rare In Europe: Dementia With Lewy Body|Non Rare In Europe: Alzheimer Disease	yes	yes	yes	yes	56.05
APOF	HGNC:615	MGI:104539	-	-	yes	no	no	no	NA
APOH	HGNC:616	MGI:88058	-	-	no	no	no	no	NA
APOL6	HGNC:14870	MGI:1919189	-	-	no	no	no	no	NA
APOLD1	HGNC:25268	MGI:2685921	-	-	no	no	no	no	NA
APOM	HGNC:13916	MGI:1930124	-	-	yes	no	no	no	NA
APOO	HGNC:28727	MGI:1915566	-	-	yes	no	no	no	NA
APOOL	HGNC:24009	MGI:1915367	-	-	yes	no	no	no	NA
APP	HGNC:620	MGI:88059	OMIM:104300|OMIM:605714|ORPHA:1020|ORPHA:324718|ORPHA:324713|ORPHA:324723|ORPHA:324708|ORPHA:324703|ORPHA:100006	Alzheimer Disease, Familial, 1|Cerebral Amyloid Angiopathy, App-Related|Early-Onset Autosomal Dominant Alzheimer Disease|Abetaa21G Amyloidosis|Abeta Amyloidosis, Italian Type|Abeta Amyloidosis, Arctic Type|Abeta Amyloidosis, Iowa Type|Abetal34V Amyloidosis|Abeta Amyloidosis, Dutch Type	yes	yes	yes	yes	23.04
APPBP2	HGNC:622	MGI:1914134	-	-	yes	no	no	no	NA
APPL1	HGNC:24035	MGI:1920243	OMIM:616511|ORPHA:552	Maturity-Onset Diabetes Of The Young, Type 14|Mody	no	no	no	no	NA
APPL2	HGNC:18242	MGI:2384914	-	-	yes	no	no	no	NA
APRT	HGNC:626	MGI:88061	OMIM:614723|ORPHA:976	Adenine Phosphoribosyltransferase Deficiency	yes	yes	yes	no	NA
APTX	HGNC:15984	MGI:1913658	OMIM:208920|ORPHA:1168	Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia|Ataxia-Oculomotor Apraxia Type 1	yes	yes	yes	yes	38.93
AQP1	HGNC:633	MGI:103201	OMIM:110450	Blood Group, Colton System	yes	yes	no	no	NA
AQP11	HGNC:19940	MGI:1913583	-	-	yes	no	no	no	NA
AQP2	HGNC:634	MGI:1096865	OMIM:125800|ORPHA:223	Diabetes Insipidus, Nephrogenic, 2, Autosomal|Nephrogenic Diabetes Insipidus	no	no	no	no	NA
AQP3	HGNC:636	MGI:1333777	OMIM:607457	Gil Blood Group	yes	yes	no	no	NA
AQP4	HGNC:637	MGI:107387	OMIM:620448	Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting	no	no	no	no	NA
AQP5	HGNC:638	MGI:106215	OMIM:600231|ORPHA:2337	Palmoplantar Keratoderma, Bothnian Type|Non-Epidermolytic Palmoplantar Keratoderma	no	no	no	no	NA
AQP6	HGNC:639	MGI:1341204	-	-	yes	no	no	no	NA
AQP8	HGNC:642	MGI:1195271	-	-	no	no	no	no	NA
AQP9	HGNC:643	MGI:1891066	-	-	yes	no	no	no	NA
AQR	HGNC:29513	MGI:1276102	-	-	no	no	no	no	NA
AR	HGNC:644	MGI:88064	OMIM:300068|OMIM:312300|OMIM:300633|OMIM:176807|OMIM:313200|ORPHA:481|ORPHA:90797|ORPHA:95706|ORPHA:99429	Androgen Insensitivity Syndrome|Androgen Insensitivity, Partial|Hypospadias 1, X-Linked|Prostate Cancer|Spinal And Bulbar Muscular Atrophy, X-Linked 1|Kennedy Disease|Partial Androgen Insensitivity Syndrome|Non-Syndromic Posterior Hypospadias|Complete Androgen Insensitivity Syndrome	no	no	no	no	NA
ARAF	HGNC:646	MGI:88065	-	-	no	no	no	no	NA
ARAP1	HGNC:16925	MGI:1916960	-	-	yes	no	no	no	NA
ARAP2	HGNC:16924	MGI:2684416	-	-	yes	no	no	no	NA
ARAP3	HGNC:24097	MGI:2147274	-	-	yes	no	no	no	NA
ARB2A	HGNC:25365	MGI:1915925	-	-	yes	no	no	no	NA
ARC	HGNC:648	MGI:88067	-	-	no	no	no	no	NA
ARCN1	HGNC:649	MGI:2387591	OMIM:617164	Short Stature-Micrognathia Syndrome	yes	yes	yes	yes	19.14
AREG	HGNC:651	MGI:88068	-	-	yes	no	no	no	NA
AREL1	HGNC:20363	MGI:1915747	-	-	yes	no	no	no	NA
ARF1	HGNC:652	MGI:99431	OMIM:618185|ORPHA:98892	Periventricular Nodular Heterotopia 8|Periventricular Nodular Heterotopia	no	no	no	no	NA
ARF3	HGNC:654	MGI:99432	ORPHA:178469	Autosomal Dominant Non-Syndromic Intellectual Disability	yes	yes	no	no	NA
ARF4	HGNC:655	MGI:99433	-	-	yes	no	no	no	NA
ARF5	HGNC:658	MGI:99434	-	-	no	no	no	no	NA
ARF6	HGNC:659	MGI:99435	-	-	no	no	no	no	NA
ARFGAP1	HGNC:15852	MGI:2183559	-	-	no	no	no	no	NA
ARFGAP2	HGNC:13504	MGI:1924288	-	-	no	no	no	no	NA
ARFGAP3	HGNC:661	MGI:1913501	-	-	no	no	no	no	NA
ARFGEF1	HGNC:15772	MGI:2442988	OMIM:619964	Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures	yes	yes	yes	no	NA
ARFGEF2	HGNC:15853	MGI:2139354	OMIM:608097|ORPHA:98892	Periventricular Heterotopia With Microcephaly, Autosomal Recessive|Periventricular Nodular Heterotopia	no	no	no	no	NA
ARFGEF3	HGNC:21213	MGI:106387	-	-	no	no	no	no	NA
ARFIP1	HGNC:21496	MGI:1277120	-	-	yes	no	no	no	NA
ARFIP2	HGNC:17160	MGI:1924182	-	-	yes	no	no	no	NA
ARFRP1	HGNC:662	MGI:1923938	-	-	no	no	no	no	NA
ARG1	HGNC:663	MGI:88070	OMIM:207800|ORPHA:90	Argininemia	no	no	no	no	NA
ARG2	HGNC:664	MGI:1330806	-	-	yes	no	no	no	NA
ARGLU1	HGNC:25482	MGI:2442985	-	-	yes	no	no	no	NA
ARHGAP1	HGNC:673	MGI:2445003	-	-	no	no	no	no	NA
ARHGAP10	HGNC:26099	MGI:1925764	-	-	yes	no	no	no	NA
ARHGAP11A	HGNC:15783	MGI:2444300	-	-	yes	no	no	no	NA
ARHGAP12	HGNC:16348	MGI:1922665	-	-	no	no	no	no	NA
ARHGAP15	HGNC:21030	MGI:1923367	-	-	yes	no	no	no	NA
ARHGAP17	HGNC:18239	MGI:1917747	-	-	yes	no	no	no	NA
ARHGAP18	HGNC:21035	MGI:1921160	-	-	yes	no	no	no	NA
ARHGAP19	HGNC:23724	MGI:1918335	-	-	yes	no	no	no	NA
ARHGAP20	HGNC:18357	MGI:2445175	-	-	yes	no	no	no	NA
ARHGAP21	HGNC:23725	MGI:1918685	-	-	yes	no	no	no	NA
ARHGAP22	HGNC:30320	MGI:2443418	-	-	yes	no	no	no	NA
ARHGAP23	HGNC:29293	MGI:3697726	-	-	yes	no	no	no	NA
ARHGAP24	HGNC:25361	MGI:1922647	ORPHA:656	Genetic Steroid-Resistant Nephrotic Syndrome	yes	yes	yes	no	NA
ARHGAP25	HGNC:28951	MGI:2443687	-	-	yes	no	no	no	NA
ARHGAP26	HGNC:17073	MGI:1918552	OMIM:607785	Juvenile Myelomonocytic Leukemia	yes	yes	yes	yes	38.49
ARHGAP27	HGNC:31813	MGI:1916903	-	-	no	no	no	no	NA
ARHGAP28	HGNC:25509	MGI:2147003	-	-	yes	no	no	no	NA
ARHGAP29	HGNC:30207	MGI:2443818	ORPHA:199306	Cleft Lip/Palate	yes	yes	yes	yes	18.05
ARHGAP30	HGNC:27414	MGI:2684948	-	-	yes	no	no	no	NA
ARHGAP31	HGNC:29216	MGI:1333857	OMIM:100300|ORPHA:974	Adams-Oliver Syndrome 1|Adams-Oliver Syndrome	yes	yes	yes	yes	29.315
ARHGAP32	HGNC:17399	MGI:2450166	-	-	no	no	no	no	NA
ARHGAP33	HGNC:23085	MGI:2673998	-	-	yes	no	no	no	NA
ARHGAP35	HGNC:4591	MGI:1929494	-	-	no	no	no	no	NA
ARHGAP36	HGNC:26388	MGI:1922654	-	-	yes	no	no	no	NA
ARHGAP39	HGNC:29351	MGI:107858	-	-	no	no	no	no	NA
ARHGAP4	HGNC:674	MGI:2159577	-	-	yes	no	no	no	NA
ARHGAP40	HGNC:16226	MGI:3649852	-	-	yes	no	no	no	NA
ARHGAP42	HGNC:26545	MGI:1918794	-	-	yes	no	no	no	NA
ARHGAP44	HGNC:29096	MGI:2144423	-	-	yes	no	no	no	NA
ARHGAP45	HGNC:17102	MGI:1917969	-	-	no	no	no	no	NA
ARHGAP5	HGNC:675	MGI:1332637	-	-	no	no	no	no	NA
ARHGAP6	HGNC:676	MGI:1196332	-	-	no	no	no	no	NA
ARHGAP8	HGNC:677	MGI:1920417	-	-	yes	no	no	no	NA
ARHGAP9	HGNC:14130	MGI:2143764	-	-	no	no	no	no	NA
ARHGDIA	HGNC:678	MGI:2178103	OMIM:615244|ORPHA:656	Nephrotic Syndrome, Type 8|Genetic Steroid-Resistant Nephrotic Syndrome	no	no	no	no	NA
ARHGDIB	HGNC:679	MGI:101940	-	-	no	no	no	no	NA
ARHGDIG	HGNC:680	MGI:108430	-	-	no	no	no	no	NA
ARHGEF1	HGNC:681	MGI:1353510	OMIM:618459	Immunodeficiency 62	yes	yes	yes	yes	56.31
ARHGEF10	HGNC:14103	MGI:2444453	OMIM:608236|ORPHA:140481	Slowed Nerve Conduction Velocity, Autosomal Dominant|Autosomal Dominant Slowed Nerve Conduction Velocity	yes	yes	yes	no	NA
ARHGEF10L	HGNC:25540	MGI:1920004	-	-	yes	no	no	no	NA
ARHGEF11	HGNC:14580	MGI:2441869	-	-	yes	no	no	no	NA
ARHGEF12	HGNC:14193	MGI:1916882	-	-	yes	no	no	no	NA
ARHGEF15	HGNC:15590	MGI:3045246	-	-	yes	no	no	no	NA
ARHGEF16	HGNC:15515	MGI:2446219	-	-	yes	no	no	no	NA
ARHGEF17	HGNC:21726	MGI:2673002	-	-	yes	no	no	no	NA
ARHGEF18	HGNC:17090	MGI:2142567	OMIM:617433|ORPHA:791	Retinitis Pigmentosa 78|Retinitis Pigmentosa	yes	yes	yes	yes	37.6
ARHGEF19	HGNC:26604	MGI:1925912	-	-	no	no	no	no	NA
ARHGEF2	HGNC:682	MGI:103264	OMIM:617523	Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	yes	yes	yes	no	NA
ARHGEF25	HGNC:30275	MGI:1277173	-	-	no	no	no	no	NA
ARHGEF26	HGNC:24490	MGI:1918053	-	-	yes	no	no	no	NA
ARHGEF28	HGNC:30322	MGI:1346016	-	-	yes	no	no	no	NA
ARHGEF3	HGNC:683	MGI:1918954	-	-	no	no	no	no	NA
ARHGEF33	HGNC:37252	MGI:2685787	-	-	yes	no	no	no	NA
ARHGEF37	HGNC:34430	MGI:3045339	-	-	no	no	no	no	NA
ARHGEF38	HGNC:25968	MGI:1924919	ORPHA:199306	Cleft Lip/Palate	yes	yes	yes	no	NA
ARHGEF39	HGNC:25909	MGI:3036286	-	-	no	no	no	no	NA
ARHGEF4	HGNC:684	MGI:2442507	-	-	yes	no	no	no	NA
ARHGEF40	HGNC:25516	MGI:2685515	-	-	yes	no	no	no	NA
ARHGEF5	HGNC:13209	MGI:1858952	-	-	yes	no	no	no	NA
ARHGEF6	HGNC:685	MGI:1920591	ORPHA:777	X-Linked Non-Syndromic Intellectual Disability	yes	yes	no	no	NA
ARHGEF7	HGNC:15607	MGI:1860493	-	-	yes	no	no	no	NA
ARHGEF9	HGNC:14561	MGI:2442233	OMIM:300607|ORPHA:163985	Developmental And Epileptic Encephalopathy 8|Hyperekplexia-Epilepsy Syndrome	no	no	no	no	NA
ARID1A	HGNC:11110	MGI:1935147	OMIM:614607|ORPHA:1465	Coffin-Siris Syndrome 2|Coffin-Siris Syndrome	no	no	no	no	NA
ARID1B	HGNC:18040	MGI:1926129	OMIM:135900|ORPHA:1465|ORPHA:251056	Coffin-Siris Syndrome 1|Coffin-Siris Syndrome|6Q25 Microdeletion Syndrome	yes	yes	yes	yes	26.18
ARID2	HGNC:18037	MGI:1924294	OMIM:617808|ORPHA:1465	Coffin-Siris Syndrome 6|Coffin-Siris Syndrome	yes	yes	yes	no	NA
ARID3A	HGNC:3031	MGI:1328360	-	-	yes	no	no	no	NA
ARID3B	HGNC:14350	MGI:1930768	-	-	no	no	no	no	NA
ARID3C	HGNC:21209	MGI:3650624	-	-	no	no	no	no	NA
ARID4A	HGNC:9885	MGI:2444354	-	-	yes	no	no	no	NA
ARID4B	HGNC:15550	MGI:2137512	-	-	yes	no	no	no	NA
ARID5A	HGNC:17361	MGI:2443039	-	-	no	no	no	no	NA
ARID5B	HGNC:17362	MGI:2175912	-	-	no	no	no	no	NA
ARIH1	HGNC:689	MGI:1344363	-	-	yes	no	no	no	NA
ARIH2	HGNC:690	MGI:1344361	-	-	yes	no	no	no	NA
ARK2C	HGNC:31696	MGI:2444521	-	-	no	no	no	no	NA
ARK2N	HGNC:28172	MGI:2444951	-	-	no	no	no	no	NA
ARL1	HGNC:692	MGI:99436	-	-	no	no	no	no	NA
ARL10	HGNC:22042	MGI:1930788	-	-	yes	no	no	no	NA
ARL11	HGNC:24046	MGI:2444054	ORPHA:67038	B-Cell Chronic Lymphocytic Leukemia	no	no	no	no	NA
ARL13A	HGNC:31709	MGI:1921698	-	-	no	no	no	no	NA
ARL13B	HGNC:25419	MGI:1915396	OMIM:612291|ORPHA:475	Joubert Syndrome 8|Joubert Syndrome	no	no	no	no	NA
ARL14	HGNC:22974	MGI:1918869	-	-	yes	no	no	no	NA
ARL14EP	HGNC:26798	MGI:1926020	-	-	no	no	no	no	NA
ARL14EPL	HGNC:44201	MGI:2685795	-	-	no	no	no	no	NA
ARL15	HGNC:25945	MGI:2442308	-	-	yes	no	no	no	NA
ARL16	HGNC:27902	MGI:1917567	-	-	yes	no	no	no	NA
ARL2	HGNC:693	MGI:1928393	OMIM:619082	Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	no	no	no	no	NA
ARL2BP	HGNC:17146	MGI:1349429	OMIM:615434|ORPHA:791	Retinitis Pigmentosa 82 With Or Without Situs Inversus|Retinitis Pigmentosa	yes	yes	yes	yes	46.12
ARL3	HGNC:694	MGI:1929699	OMIM:618161|OMIM:618173|ORPHA:791|ORPHA:475	Joubert Syndrome 35|Retinitis Pigmentosa 83|Retinitis Pigmentosa|Joubert Syndrome	no	no	no	no	NA
ARL4A	HGNC:695	MGI:99437	-	-	yes	no	no	no	NA
ARL4C	HGNC:698	MGI:2445172	-	-	no	no	no	no	NA
ARL4D	HGNC:656	MGI:1933155	-	-	yes	no	no	no	NA
ARL5A	HGNC:696	MGI:1922673	-	-	yes	no	no	no	NA
ARL5B	HGNC:23052	MGI:1923119	-	-	no	no	no	no	NA
ARL5C	HGNC:31111	MGI:3028577	-	-	yes	no	no	no	NA
ARL6	HGNC:13210	MGI:1927136	OMIM:209900|OMIM:600151|OMIM:613575|ORPHA:791|ORPHA:110	Bardet-Biedl Syndrome 1|Bardet-Biedl Syndrome 3|Retinitis Pigmentosa 55|Retinitis Pigmentosa|Bardet-Biedl Syndrome	no	no	no	no	NA
ARL6IP1	HGNC:697	MGI:1858943	OMIM:615685|ORPHA:401780	Spastic Paraplegia 61, Autosomal Recessive|Autosomal Recessive Spastic Paraplegia Type 61	yes	yes	yes	yes	62.185
ARL6IP4	HGNC:18076	MGI:1929500	-	-	no	no	no	no	NA
ARL6IP5	HGNC:16937	MGI:1929501	-	-	no	no	no	no	NA
ARL6IP6	HGNC:24048	MGI:1929507	ORPHA:1556	Cutis Marmorata Telangiectatica Congenita	yes	yes	yes	yes	30.055
ARL8A	HGNC:25192	MGI:1915974	-	-	no	no	no	no	NA
ARL8B	HGNC:25564	MGI:1914416	-	-	yes	no	no	no	NA
ARL9	HGNC:23592	MGI:1915496	-	-	yes	no	no	no	NA
ARMC1	HGNC:17684	MGI:1921502	-	-	no	no	no	no	NA
ARMC10	HGNC:21706	MGI:1914461	-	-	no	no	no	no	NA
ARMC12	HGNC:21099	MGI:1914895	ORPHA:137893	Male Infertility Due To Large-Headed Multiflagellar Polyploid Spermatozoa	no	no	no	no	NA
ARMC2	HGNC:23045	MGI:1916449	OMIM:618433|ORPHA:276234	Spermatogenic Failure 38|Non-Syndromic Male Infertility Due To Sperm Motility Disorder	yes	yes	yes	no	NA
ARMC3	HGNC:30964	MGI:1918132	-	-	yes	no	no	no	NA
ARMC5	HGNC:25781	MGI:2384586	OMIM:615954|ORPHA:189427	Acth-Independent Macronodular Adrenal Hyperplasia 2|Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	no	no	no	no	NA
ARMC6	HGNC:25049	MGI:1924063	-	-	yes	no	no	no	NA
ARMC7	HGNC:26168	MGI:2679719	-	-	yes	no	no	no	NA
ARMC8	HGNC:24999	MGI:1921375	-	-	no	no	no	no	NA
ARMC9	HGNC:20730	MGI:1926045	OMIM:617622|ORPHA:475	Joubert Syndrome 30|Joubert Syndrome	no	no	no	no	NA
ARMCX1	HGNC:18073	MGI:1925498	-	-	yes	no	no	no	NA
ARMCX2	HGNC:16869	MGI:1914666	-	-	no	no	no	no	NA
ARMCX3	HGNC:24065	MGI:1918953	-	-	yes	no	no	no	NA
ARMCX4	HGNC:28615	MGI:2147887	-	-	no	no	no	no	NA
ARMCX5	HGNC:25772	MGI:2148026	-	-	no	no	no	no	NA
ARMCX6	HGNC:26094	MGI:2147993	-	-	no	no	no	no	NA
ARMH1	HGNC:34345	MGI:2686507	-	-	no	no	no	no	NA
ARMH2	HGNC:49394	MGI:1916676	-	-	no	no	no	no	NA
ARMH3	HGNC:25788	MGI:1918867	-	-	yes	no	no	no	NA
ARMH4	HGNC:19846	MGI:1914669	-	-	yes	no	no	no	NA
ARMT1	HGNC:17872	MGI:1920669	-	-	yes	no	no	no	NA
ARNT	HGNC:700	MGI:88071	-	-	yes	no	no	no	NA
ARNT2	HGNC:16876	MGI:107188	OMIM:615926|ORPHA:3157	Webb-Dattani Syndrome|Septo-Optic Dysplasia Spectrum	no	no	no	no	NA
ARPC1A	HGNC:703	MGI:1928896	-	-	yes	no	no	no	NA
ARPC1B	HGNC:704	MGI:1343142	OMIM:617718	Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	yes	yes	yes	yes	60.445
ARPC2	HGNC:705	MGI:1923959	-	-	yes	no	no	no	NA
ARPC3	HGNC:706	MGI:1928375	-	-	yes	no	no	no	NA
ARPC4	HGNC:707	MGI:1915339	OMIM:620141	Developmental Delay, Language Impairment, And Ocular Abnormalities	yes	yes	yes	no	NA
ARPC5	HGNC:708	MGI:1915021	-	-	no	no	no	no	NA
ARPC5L	HGNC:23366	MGI:1921442	-	-	yes	no	no	no	NA
ARPIN	HGNC:28782	MGI:1917670	-	-	yes	no	no	no	NA
ARPP19	HGNC:16967	MGI:1891691	-	-	no	no	no	no	NA
ARPP21	HGNC:16968	MGI:107562	-	-	no	no	no	no	NA
ARR3	HGNC:710	MGI:2159617	OMIM:301010	Myopia 26, X-Linked, Female-Limited	yes	yes	yes	no	NA
ARRB1	HGNC:711	MGI:99473	-	-	yes	no	no	no	NA
ARRB2	HGNC:712	MGI:99474	-	-	yes	no	no	no	NA
ARRDC1	HGNC:28633	MGI:2446136	-	-	yes	no	no	no	NA
ARRDC2	HGNC:25225	MGI:1918057	-	-	yes	no	no	no	NA
ARRDC3	HGNC:29263	MGI:2145242	-	-	no	no	no	no	NA
ARRDC4	HGNC:28087	MGI:1913662	-	-	yes	no	no	no	NA
ARRDC5	HGNC:31407	MGI:1924170	-	-	yes	no	no	no	NA
ARSA	HGNC:713	MGI:88077	OMIM:250100|ORPHA:751|ORPHA:309271|ORPHA:309256|ORPHA:309263	Metachromatic Leukodystrophy|Non Rare In Europe: Pseudoarylsulfatase A Deficiency|Metachromatic Leukodystrophy, Adult Form|Metachromatic Leukodystrophy, Late Infantile Form|Metachromatic Leukodystrophy, Juvenile Form	no	no	no	no	NA
ARSB	HGNC:714	MGI:88075	OMIM:253200|ORPHA:276223|ORPHA:276212	Mucopolysaccharidosis, Type Vi|Mucopolysaccharidosis Type 6, Slowly Progressing|Mucopolysaccharidosis Type 6, Rapidly Progressing	no	no	no	no	NA
ARSG	HGNC:24102	MGI:1921258	OMIM:618144|ORPHA:231183	Usher Syndrome, Type Iv|Usher Syndrome Type 3	yes	no	yes	no	NA
ARSI	HGNC:32521	MGI:2670959	ORPHA:401815	Autosomal Recessive Spastic Paraplegia Type 66	no	no	no	no	NA
ARSJ	HGNC:26286	MGI:2443513	-	-	yes	no	no	no	NA
ARSK	HGNC:25239	MGI:1924291	OMIM:619698	Mucopolysaccharidosis, Type X	yes	yes	yes	yes	22.39
ART1	HGNC:723	MGI:107511	-	-	yes	no	no	no	NA
ART3	HGNC:725	MGI:1202729	-	-	no	no	no	no	NA
ART4	HGNC:726	MGI:1202710	OMIM:616060	Blood Group, Dombrock System	yes	yes	no	no	NA
ART5	HGNC:24049	MGI:107948	-	-	no	no	no	no	NA
ARTN	HGNC:727	MGI:1333791	-	-	no	no	no	no	NA
ARV1	HGNC:29561	MGI:1916115	OMIM:617020|ORPHA:442835	Developmental And Epileptic Encephalopathy 38|Non-Specific Early-Onset Epileptic Encephalopathy	yes	yes	yes	yes	41.425
ARVCF	HGNC:728	MGI:109620	ORPHA:567	22Q11.2 Deletion Syndrome	yes	yes	yes	yes	38.055
ARX	HGNC:18060	MGI:1097716	OMIM:308350|OMIM:300215|OMIM:300419|OMIM:309510|OMIM:300004|ORPHA:1934|ORPHA:3451|ORPHA:2508|ORPHA:3175|ORPHA:777|ORPHA:452|ORPHA:364063|ORPHA:94083	Developmental And Epileptic Encephalopathy 1|Lissencephaly, X-Linked, 2|Intellectual Developmental Disorder, X-Linked 29|Partington Syndrome|Corpus Callosum, Agenesis Of, With Abnormal Genitalia|Early Infantile Epileptic Encephalopathy|Infantile Spasms Syndrome|Corpus Callosum Agenesis-Abnormal Genitalia Syndrome|X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome|X-Linked Non-Syndromic Intellectual Disability|X-Linked Lissencephaly With Abnormal Genitalia|Infantile Epileptic-Dyskinetic Encephalopathy	no	no	no	no	NA
AS3MT	HGNC:17452	MGI:1929882	-	-	no	no	no	no	NA
ASAH1	HGNC:735	MGI:1277124	OMIM:228000|OMIM:159950|ORPHA:333|ORPHA:2590	Farber Lipogranulomatosis|Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy|Farber Disease|Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	no	no	no	no	NA
ASAH2	HGNC:18860	MGI:1859310	-	-	no	no	no	no	NA
ASAP1	HGNC:2720	MGI:1342335	-	-	yes	no	no	no	NA
ASAP2	HGNC:2721	MGI:2685438	-	-	no	no	no	no	NA
ASAP3	HGNC:14987	MGI:2684986	-	-	yes	no	no	no	NA
ASB1	HGNC:16011	MGI:1929735	-	-	yes	no	no	no	NA
ASB10	HGNC:17185	MGI:2152836	OMIM:603383|ORPHA:353225	Glaucoma 1, Open Angle, F|Non Rare In Europe: Primary Adult Open-Angle Glaucoma	yes	yes	yes	no	NA
ASB11	HGNC:17186	MGI:1916104	-	-	no	no	no	no	NA
ASB12	HGNC:19763	MGI:1917642	-	-	no	no	no	no	NA
ASB13	HGNC:19765	MGI:2145525	-	-	no	no	no	no	NA
ASB14	HGNC:19766	MGI:2655107	-	-	no	no	no	no	NA
ASB15	HGNC:19767	MGI:1926160	-	-	yes	no	no	no	NA
ASB16	HGNC:19768	MGI:2654437	-	-	yes	no	no	no	NA
ASB17	HGNC:19769	MGI:1914022	-	-	yes	no	no	no	NA
ASB18	HGNC:19770	MGI:2655109	-	-	yes	no	no	no	NA
ASB2	HGNC:16012	MGI:1929743	-	-	yes	no	no	no	NA
ASB3	HGNC:16013	MGI:1929749	-	-	no	no	no	no	NA
ASB4	HGNC:16009	MGI:1929751	-	-	yes	no	no	no	NA
ASB5	HGNC:17180	MGI:1923544	-	-	yes	no	no	no	NA
ASB6	HGNC:17181	MGI:1919573	-	-	no	no	no	no	NA
ASB7	HGNC:17182	MGI:2152835	-	-	yes	no	no	no	NA
ASB8	HGNC:17183	MGI:1925791	-	-	yes	no	no	no	NA
ASB9	HGNC:17184	MGI:1916549	-	-	no	no	no	no	NA
ASCC1	HGNC:24268	MGI:1916340	OMIM:614266|OMIM:616867|ORPHA:486811	Barrett Esophagus|Spinal Muscular Atrophy With Congenital Bone Fractures 2|Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures	yes	yes	yes	yes	22.33
ASCC2	HGNC:24103	MGI:1922702	-	-	yes	no	no	no	NA
ASCC3	HGNC:18697	MGI:1925237	-	-	yes	no	no	no	NA
ASCL1	HGNC:738	MGI:96919	ORPHA:99803	Haddad Syndrome	no	no	no	no	NA
ASCL2	HGNC:739	MGI:96920	-	-	no	no	no	no	NA
ASCL3	HGNC:740	MGI:1928820	-	-	no	no	no	no	NA
ASCL4	HGNC:24311	MGI:1914591	-	-	yes	no	no	no	NA
ASCL5	HGNC:33169	MGI:2685043	-	-	yes	no	no	no	NA
ASF1A	HGNC:20995	MGI:1913653	-	-	yes	no	no	no	NA
ASF1B	HGNC:20996	MGI:1914179	-	-	yes	no	no	no	NA
ASGR1	HGNC:742	MGI:88081	-	-	no	no	no	no	NA
ASGR2	HGNC:743	MGI:88082	-	-	no	no	no	no	NA
ASH1L	HGNC:19088	MGI:2183158	OMIM:617796|ORPHA:178469	Intellectual Developmental Disorder, Autosomal Dominant 52|Autosomal Dominant Non-Syndromic Intellectual Disability	yes	yes	yes	yes	15.61
ASH2L	HGNC:744	MGI:1344416	-	-	yes	no	no	no	NA
ASIC1	HGNC:100	MGI:1194915	-	-	yes	no	no	no	NA
ASIC2	HGNC:99	MGI:1100867	-	-	yes	no	no	no	NA
ASIC3	HGNC:101	MGI:2159339	-	-	yes	no	no	no	NA
ASIC4	HGNC:21263	MGI:2652846	-	-	yes	no	no	no	NA
ASIC5	HGNC:17537	MGI:1929259	-	-	yes	no	no	no	NA
ASIP	HGNC:745	MGI:87853	OMIM:611742	Skin/Hair/Eye Pigmentation, Variation In, 9	yes	yes	no	no	NA
ASL	HGNC:746	MGI:88084	OMIM:207900|ORPHA:23	Argininosuccinic Aciduria	no	no	no	no	NA
ASMT	HGNC:750	MGI:96090	-	-	yes	no	no	no	NA
ASNS	HGNC:753	MGI:1350929	OMIM:615574|ORPHA:391376	Asparagine Synthetase Deficiency|Congenital Microcephaly-Severe Encephalopathy-Progressive Cerebral Atrophy Syndrome	yes	yes	yes	yes	17.595
ASNSD1	HGNC:24910	MGI:1917646	-	-	no	no	no	no	NA
ASPA	HGNC:756	MGI:87914	OMIM:271900|ORPHA:314918|ORPHA:314911	Canavan Disease|Mild Canavan Disease|Severe Canavan Disease	yes	yes	yes	yes	47.15
ASPDH	HGNC:33856	MGI:1915602	-	-	no	no	no	no	NA
ASPG	HGNC:20123	MGI:2144822	-	-	yes	no	no	no	NA
ASPH	HGNC:757	MGI:1914186	OMIM:601552|ORPHA:412022	Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs|Facial Dysmorphism-Lens Dislocation-Anterior Segment Abnormalities-Spontaneous Filtering Blebs Syndrome	no	no	no	no	NA
ASPHD1	HGNC:27380	MGI:2685014	-	-	yes	no	no	no	NA
ASPHD2	HGNC:30437	MGI:1920148	-	-	no	no	no	no	NA
ASPM	HGNC:19048	MGI:1334448	OMIM:608716|ORPHA:2512	Microcephaly 5, Primary, Autosomal Recessive|Autosomal Recessive Primary Microcephaly	yes	yes	yes	no	NA
ASPN	HGNC:14872	MGI:1913945	OMIM:603932|OMIM:607850	Intervertebral Disc Disease|Osteoarthritis Susceptibility 3	yes	yes	yes	no	NA
ASPRV1	HGNC:26321	MGI:1915105	OMIM:146750|ORPHA:313	Ichthyosis, Lamellar, Autosomal Dominant|Lamellar Ichthyosis	no	no	no	no	NA
ASPSCR1	HGNC:13825	MGI:1916188	OMIM:606243|ORPHA:163699|ORPHA:319308	Alveolar Soft Part Sarcoma|Alveolar Soft Tissue Sarcoma|Mit Family Translocation Renal Cell Carcinoma	yes	yes	yes	no	NA
ASRGL1	HGNC:16448	MGI:1913764	-	-	no	no	no	no	NA
ASS1	HGNC:758	MGI:88090	OMIM:215700|ORPHA:247546|ORPHA:247573	Citrullinemia, Classic|Acute Neonatal Citrullinemia Type I|Late-Onset Citrullinemia Type I	no	no	no	no	NA
ASTE1	HGNC:25021	MGI:1913845	-	-	yes	no	no	no	NA
ASTL	HGNC:31704	MGI:3046414	OMIM:619643	Oocyte/Zygote/Embryo Maturation Arrest 11	no	no	no	no	NA
ASTN1	HGNC:773	MGI:1098567	-	-	no	no	no	no	NA
ASTN2	HGNC:17021	MGI:1889277	-	-	no	no	no	no	NA
ASXL1	HGNC:18318	MGI:2684063	OMIM:605039|OMIM:614286|ORPHA:86845|ORPHA:97297|ORPHA:98823|ORPHA:98850|ORPHA:98849	Bohring-Opitz Syndrome|Myelodysplastic Syndrome|Acute Myeloid Leukaemia With Myelodysplasia-Related Features|Chronic Myelomonocytic Leukemia|Aggressive Systemic Mastocytosis|Systemic Mastocytosis With Associated Hematologic Neoplasm	yes	yes	yes	yes	40.725
ASXL2	HGNC:23805	MGI:1922552	OMIM:617190	Shashi-Pena Syndrome	yes	yes	yes	no	NA
ASXL3	HGNC:29357	MGI:2685175	OMIM:615485|ORPHA:352577	Bainbridge-Ropers Syndrome	yes	no	yes	no	NA
ASZ1	HGNC:1350	MGI:1921318	-	-	no	no	no	no	NA
ATAD1	HGNC:25903	MGI:1915229	OMIM:618011|ORPHA:3197	Hyperekplexia 4|Hereditary Hyperekplexia	no	no	no	no	NA
ATAD2	HGNC:30123	MGI:1917722	-	-	no	no	no	no	NA
ATAD2B	HGNC:29230	MGI:2444798	-	-	yes	no	no	no	NA
ATAD5	HGNC:25752	MGI:2442925	-	-	yes	no	no	no	NA
ATAT1	HGNC:21186	MGI:1913869	-	-	no	no	no	no	NA
ATCAY	HGNC:779	MGI:2448730	OMIM:601238|ORPHA:94122	Cerebellar Ataxia, Cayman Type	yes	yes	yes	no	NA
ATE1	HGNC:782	MGI:1333870	-	-	yes	no	no	no	NA
ATF1	HGNC:783	MGI:1298366	ORPHA:97338	Melanoma Of Soft Tissue	no	no	no	no	NA
ATF2	HGNC:784	MGI:109349	-	-	yes	no	no	no	NA
ATF3	HGNC:785	MGI:109384	-	-	yes	no	no	no	NA
ATF4	HGNC:786	MGI:88096	-	-	yes	no	no	no	NA
ATF5	HGNC:790	MGI:2141857	-	-	no	no	no	no	NA
ATF6	HGNC:791	MGI:1926157	OMIM:616517|ORPHA:1872|ORPHA:49382	Achromatopsia 7|Cone Rod Dystrophy|Achromatopsia	no	no	no	no	NA
ATF6B	HGNC:2349	MGI:105121	-	-	yes	no	no	no	NA
ATF7	HGNC:792	MGI:2443472	-	-	yes	no	no	no	NA
ATF7IP	HGNC:20092	MGI:1858965	-	-	no	no	no	no	NA
ATF7IP2	HGNC:20397	MGI:1922579	-	-	no	no	no	no	NA
ATG10	HGNC:20315	MGI:1914045	-	-	no	no	no	no	NA
ATG101	HGNC:25679	MGI:1915368	-	-	no	no	no	no	NA
ATG12	HGNC:588	MGI:1914776	-	-	no	no	no	no	NA
ATG13	HGNC:29091	MGI:1196429	-	-	yes	no	no	no	NA
ATG14	HGNC:19962	MGI:1261775	-	-	yes	no	no	no	NA
ATG16L1	HGNC:21498	MGI:1924290	OMIM:611081|ORPHA:206	Inflammatory Bowel Disease (Crohn Disease) 10|Non Rare In Europe: Crohn Disease	yes	yes	no	no	NA
ATG16L2	HGNC:25464	MGI:1920933	-	-	yes	no	no	no	NA
ATG2A	HGNC:29028	MGI:1916291	-	-	yes	no	no	no	NA
ATG2B	HGNC:20187	MGI:1923809	-	-	yes	no	no	no	NA
ATG3	HGNC:20962	MGI:1915091	-	-	yes	no	no	no	NA
ATG4A	HGNC:16489	MGI:2147903	-	-	yes	no	no	no	NA
ATG4B	HGNC:20790	MGI:1913865	-	-	yes	no	no	no	NA
ATG4C	HGNC:16040	MGI:2651854	-	-	yes	no	no	no	NA
ATG4D	HGNC:20789	MGI:2444308	-	-	yes	no	no	no	NA
ATG5	HGNC:589	MGI:1277186	OMIM:617584	Spinocerebellar Ataxia, Autosomal Recessive 25	no	no	no	no	NA
ATG7	HGNC:16935	MGI:1921494	OMIM:619422	Spinocerebellar Ataxia, Autosomal Recessive 31	yes	yes	yes	yes	34.86
ATG9A	HGNC:22408	MGI:2138446	-	-	no	no	no	no	NA
ATG9B	HGNC:21899	MGI:2685420	-	-	yes	no	no	no	NA
ATIC	HGNC:794	MGI:1351352	OMIM:608688|ORPHA:250977	Aica-Ribosuria Due To Atic Deficiency|Aica-Ribosiduria	no	no	no	no	NA
ATL1	HGNC:11231	MGI:1921241	OMIM:613708|OMIM:182600|ORPHA:36386|ORPHA:100984	Neuropathy, Hereditary Sensory, Type Id|Spastic Paraplegia 3, Autosomal Dominant|Hereditary Sensory And Autonomic Neuropathy Type 1|Autosomal Dominant Spastic Paraplegia Type 3	no	no	no	no	NA
ATL2	HGNC:24047	MGI:1929492	-	-	yes	no	no	no	NA
ATL3	HGNC:24526	MGI:1924270	OMIM:615632|ORPHA:36386	Neuropathy, Hereditary Sensory, Type If|Hereditary Sensory And Autonomic Neuropathy Type 1	yes	yes	yes	no	NA
ATM	HGNC:795	MGI:107202	OMIM:208900|OMIM:114480|ORPHA:100|ORPHA:1331|ORPHA:370109|ORPHA:67038|ORPHA:52416	Ataxia-Telangiectasia|Breast Cancer|Familial Prostate Cancer|Ataxia-Telangiectasia Variant|B-Cell Chronic Lymphocytic Leukemia|Mantle Cell Lymphoma	no	no	no	no	NA
ATMIN	HGNC:29034	MGI:2682328	-	-	no	no	no	no	NA
ATN1	HGNC:3033	MGI:104725	OMIM:618494|OMIM:125370|ORPHA:101	Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies|Dentatorubral-Pallidoluysian Atrophy|Dentatorubral Pallidoluysian Atrophy	yes	yes	yes	yes	41.06
ATOH1	HGNC:797	MGI:104654	OMIM:620284	Deafness, Autosomal Dominant 89	no	no	no	no	NA
ATOH7	HGNC:13907	MGI:1355553	OMIM:221900|ORPHA:289499|ORPHA:91495	Persistent Hyperplastic Primary Vitreous, Autosomal Recessive|Congenital Cataract Microcornea With Corneal Opacity|Persistent Hyperplastic Primary Vitreous	no	no	no	no	NA
ATOH8	HGNC:24126	MGI:1918343	-	-	no	no	no	no	NA
ATOSA	HGNC:25609	MGI:2387648	-	-	no	no	no	no	NA
ATOSB	HGNC:25666	MGI:2441854	-	-	no	no	no	no	NA
ATOX1	HGNC:798	MGI:1333855	-	-	no	no	no	no	NA
ATP10A	HGNC:13542	MGI:1330809	ORPHA:411515	Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	yes	yes	yes	no	NA
ATP10B	HGNC:13543	MGI:2442688	-	-	no	no	no	no	NA
ATP11A	HGNC:13552	MGI:1354735	OMIM:620384|OMIM:619851|OMIM:619810|ORPHA:2032|ORPHA:90635	Auditory Neuropathy, Autosomal Dominant 2|Leukodystrophy, Hypomyelinating, 24|Deafness, Autosomal Dominant 84|Idiopathic Pulmonary Fibrosis|Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	yes	yes	yes	yes	28.355
ATP11B	HGNC:13553	MGI:1923545	-	-	yes	no	no	no	NA
ATP11C	HGNC:13554	MGI:1859661	OMIM:301015	Hemolytic Anemia, Congenital, X-Linked	yes	yes	yes	yes	43.25
ATP12A	HGNC:13816	MGI:1926943	-	-	yes	no	no	no	NA
ATP13A1	HGNC:24215	MGI:2180801	-	-	yes	no	no	no	NA
ATP13A2	HGNC:30213	MGI:1922022	OMIM:606693|OMIM:617225|ORPHA:314632|ORPHA:306674|ORPHA:513436	Kufor-Rakeb Syndrome|Spastic Paraplegia 78, Autosomal Recessive|Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis|Autosomal Recessive Spastic Paraplegia Type 78	yes	no	yes	no	NA
ATP13A3	HGNC:24113	MGI:2685387	OMIM:265400|ORPHA:275777	Pulmonary Hypertension, Primary, 5|Heritable Pulmonary Arterial Hypertension	yes	yes	yes	yes	25.9
ATP13A4	HGNC:25422	MGI:1924456	-	-	yes	no	no	no	NA
ATP13A5	HGNC:31789	MGI:2444068	-	-	yes	no	no	no	NA
ATP1A1	HGNC:799	MGI:88105	OMIM:618036|OMIM:618314|ORPHA:564178|ORPHA:521414|ORPHA:85142	Charcot-Marie-Tooth Disease, Axonal, Type 2Dd|Hypomagnesemia, Seizures, And Impaired Intellectual Development 2|Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome|Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Dd|Non Rare In Europe: Aldosterone-Producing Adenoma	yes	yes	yes	yes	39.035
ATP1A2	HGNC:800	MGI:88106	OMIM:104290|OMIM:619605|OMIM:619602|OMIM:602481|ORPHA:2131|ORPHA:569|ORPHA:442835	Alternating Hemiplegia Of Childhood 1|Developmental And Epileptic Encephalopathy 98|Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies|Migraine, Familial Hemiplegic, 2|Alternating Hemiplegia Of Childhood|Familial Or Sporadic Hemiplegic Migraine|Non-Specific Early-Onset Epileptic Encephalopathy	no	no	no	no	NA
ATP1A3	HGNC:801	MGI:88107	OMIM:614820|OMIM:601338|OMIM:619606|OMIM:128235|ORPHA:2131|ORPHA:1171|ORPHA:442835|ORPHA:71517	Alternating Hemiplegia Of Childhood 2|Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss|Developmental And Epileptic Encephalopathy 99|Dystonia 12|Alternating Hemiplegia Of Childhood|Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome|Non-Specific Early-Onset Epileptic Encephalopathy|Rapid-Onset Dystonia-Parkinsonism	yes	yes	yes	yes	49.875
ATP1A4	HGNC:14073	MGI:1351335	-	-	yes	no	no	no	NA
ATP1B1	HGNC:804	MGI:88108	OMIM:145500	Hypertension, Essential	yes	yes	yes	yes	38.6
ATP1B2	HGNC:805	MGI:88109	-	-	no	no	no	no	NA
ATP1B3	HGNC:806	MGI:107788	-	-	yes	no	no	no	NA
ATP1B4	HGNC:808	MGI:1915071	-	-	no	no	no	no	NA
ATP23	HGNC:29452	MGI:1916984	-	-	no	no	no	no	NA
ATP2A1	HGNC:811	MGI:105058	OMIM:601003|ORPHA:53347	Brody Disease|Brody Myopathy	yes	yes	yes	no	NA
ATP2A2	HGNC:812	MGI:88110	OMIM:101900|OMIM:124200|ORPHA:218|ORPHA:79151	Acrokeratosis Verruciformis|Darier-White Disease|Darier Disease|Acrokeratosis Verruciformis Of Hopf	yes	yes	yes	no	NA
ATP2A3	HGNC:813	MGI:1194503	-	-	no	no	no	no	NA
ATP2B1	HGNC:814	MGI:104653	OMIM:619910|ORPHA:528084	Intellectual Developmental Disorder, Autosomal Dominant 66|Non-Specific Syndromic Intellectual Disability	yes	yes	yes	yes	18.12
ATP2B2	HGNC:815	MGI:105368	OMIM:619804|OMIM:601386|ORPHA:90636	Deafness, Autosomal Dominant 82|Deafness, Autosomal Recessive 12|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	yes	no	yes	no	NA
ATP2B3	HGNC:816	MGI:1347353	OMIM:302500|ORPHA:314978|ORPHA:85142	Spinocerebellar Ataxia, X-Linked 1|X-Linked Non Progressive Cerebellar Ataxia|Non Rare In Europe: Aldosterone-Producing Adenoma	yes	yes	yes	yes	36.09
ATP2B4	HGNC:817	MGI:88111	-	-	yes	no	no	no	NA
ATP2C1	HGNC:13211	MGI:1889008	OMIM:169600|ORPHA:2841	Benign Chronic Pemphigus|Familial Benign Chronic Pemphigus	no	no	no	no	NA
ATP2C2	HGNC:29103	MGI:1916297	-	-	yes	no	no	no	NA
ATP4A	HGNC:819	MGI:88113	ORPHA:464756	Familial Gastric Type 1 Neuroendocrine Tumor	no	no	no	no	NA
ATP4B	HGNC:820	MGI:88114	-	-	no	no	no	no	NA
ATP5F1A	HGNC:823	MGI:88115	OMIM:616045|OMIM:615228|OMIM:620358|ORPHA:254913	Combined Oxidative Phosphorylation Deficiency 22|Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B|Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A|Isolated Atp Synthase Deficiency	yes	yes	yes	yes	35.175
ATP5F1B	HGNC:830	MGI:107801	OMIM:620085	Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	yes	yes	yes	no	NA
ATP5F1C	HGNC:833	MGI:1261437	-	-	no	no	no	no	NA
ATP5F1D	HGNC:837	MGI:1913293	OMIM:618120|ORPHA:254913	Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5|Isolated Atp Synthase Deficiency	yes	yes	yes	no	NA
ATP5F1E	HGNC:838	MGI:1855697	OMIM:614053|ORPHA:254913	Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3|Isolated Atp Synthase Deficiency	yes	yes	yes	no	NA
ATP5IF1	HGNC:871	MGI:1196457	-	-	yes	no	no	no	NA
ATP5MC1	HGNC:841	MGI:107653	-	-	yes	no	no	no	NA
ATP5MC2	HGNC:842	MGI:1915192	-	-	yes	no	no	no	NA
ATP5MC3	HGNC:843	MGI:2442035	OMIM:619681	Dystonia, Early-Onset, And/Or Spastic Paraplegia	yes	yes	yes	yes	38.125
ATP5ME	HGNC:846	MGI:106636	-	-	no	no	no	no	NA
ATP5MF	HGNC:848	MGI:1927558	-	-	no	no	no	no	NA
ATP5MJ	HGNC:1188	MGI:1917507	-	-	no	no	no	no	NA
ATP5MK	HGNC:30889	MGI:1891435	OMIM:618683|ORPHA:254913	Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6|Isolated Atp Synthase Deficiency	yes	yes	yes	yes	41.74
ATP5PB	HGNC:840	MGI:1100495	-	-	yes	no	no	no	NA
ATP5PD	HGNC:845	MGI:1918929	-	-	no	no	no	no	NA
ATP5PF	HGNC:847	MGI:107777	-	-	no	no	no	no	NA
ATP5PO	HGNC:850	MGI:106341	OMIM:620359	Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 7	yes	yes	yes	no	NA
ATP6AP1	HGNC:868	MGI:109629	OMIM:300972	Immunodeficiency 47	no	no	no	no	NA
ATP6AP1L	HGNC:28091	MGI:3648665	-	-	no	no	no	no	NA
ATP6AP2	HGNC:18305	MGI:1917745	OMIM:300911|OMIM:301045|OMIM:300423|ORPHA:363654|ORPHA:93952	Parkinsonism With Spasticity, X-Linked|Congenital Disorder Of Glycosylation, Type Iir|Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type|X-Linked Parkinsonism-Spasticity Syndrome|X-Linked Intellectual Disability, Hedera Type	no	no	no	no	NA
ATP6V0A1	HGNC:865	MGI:103286	OMIM:619970|OMIM:619971	Developmental And Epileptic Encephalopathy 104|Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	yes	yes	yes	yes	31.25
ATP6V0A2	HGNC:18481	MGI:104855	OMIM:219200|OMIM:278250|ORPHA:2834|ORPHA:357074	Cutis Laxa, Autosomal Recessive, Type Iia|Wrinkly Skin Syndrome|Autosomal Recessive Cutis Laxa Type 2, Classic Type	no	no	no	no	NA
ATP6V0A4	HGNC:866	MGI:2153480	OMIM:602722|ORPHA:402041	Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss|Autosomal Recessive Distal Renal Tubular Acidosis	yes	yes	yes	no	NA
ATP6V0B	HGNC:861	MGI:1890510	-	-	yes	no	no	no	NA
ATP6V0C	HGNC:855	MGI:88116	OMIM:620465	Epilepsy, Early-Onset, 3, With Or Without Developmental Delay	no	no	no	no	NA
ATP6V0D1	HGNC:13724	MGI:1201778	-	-	yes	no	no	no	NA
ATP6V0D2	HGNC:18266	MGI:1924415	-	-	no	no	no	no	NA
ATP6V0E1	HGNC:863	MGI:1328318	-	-	no	no	no	no	NA
ATP6V0E2	HGNC:21723	MGI:1923502	-	-	no	no	no	no	NA
ATP6V1A	HGNC:851	MGI:1201780	OMIM:617403|OMIM:618012|ORPHA:357074|ORPHA:442835	Cutis Laxa, Autosomal Recessive, Type Iid|Developmental And Epileptic Encephalopathy 93|Autosomal Recessive Cutis Laxa Type 2, Classic Type|Non-Specific Early-Onset Epileptic Encephalopathy	yes	yes	yes	yes	38.59
ATP6V1B1	HGNC:853	MGI:103285	OMIM:267300|ORPHA:402041	Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss|Autosomal Recessive Distal Renal Tubular Acidosis	yes	yes	yes	no	NA
ATP6V1B2	HGNC:854	MGI:109618	OMIM:124480|OMIM:616455|ORPHA:3473|ORPHA:79499|ORPHA:79500	Deafness, Congenital, With Onychodystrophy, Autosomal Dominant|Zimmermann-Laband Syndrome 2|Zimmermann-Laband Syndrome|Autosomal Dominant Deafness-Onychodystrophy Syndrome|Doors Syndrome	yes	yes	yes	yes	41.37
ATP6V1C1	HGNC:856	MGI:1913585	-	-	yes	no	no	no	NA
ATP6V1C2	HGNC:18264	MGI:1916025	-	-	no	no	no	no	NA
ATP6V1D	HGNC:13527	MGI:1921084	-	-	yes	no	no	no	NA
ATP6V1E1	HGNC:857	MGI:894326	OMIM:617402|ORPHA:357074	Cutis Laxa, Autosomal Recessive, Type Iic|Autosomal Recessive Cutis Laxa Type 2, Classic Type	yes	yes	yes	no	NA
ATP6V1E2	HGNC:18125	MGI:1922165	-	-	no	no	no	no	NA
ATP6V1F	HGNC:16832	MGI:1913394	-	-	yes	no	no	no	NA
ATP6V1G1	HGNC:864	MGI:1913540	-	-	no	no	no	no	NA
ATP6V1G2	HGNC:862	MGI:1913487	-	-	yes	no	no	no	NA
ATP6V1G3	HGNC:18265	MGI:2450548	-	-	no	no	no	no	NA
ATP6V1H	HGNC:18303	MGI:1914864	-	-	yes	no	no	no	NA
ATP7A	HGNC:869	MGI:99400	OMIM:309400|OMIM:300489|OMIM:304150|ORPHA:565|ORPHA:388|ORPHA:139557|ORPHA:198	Menkes Disease|Neuronopathy, Distal Hereditary Motor, X-Linked|Occipital Horn Syndrome|Hirschsprung Disease|X-Linked Distal Spinal Muscular Atrophy Type 3	yes	yes	yes	yes	38.485
ATP7B	HGNC:870	MGI:103297	OMIM:277900|ORPHA:905	Wilson Disease	no	no	no	no	NA
ATP8A1	HGNC:13531	MGI:1330848	-	-	yes	no	no	no	NA
ATP8B1	HGNC:3706	MGI:1859665	OMIM:243300|OMIM:147480|OMIM:211600|ORPHA:69665|ORPHA:79306|ORPHA:99960	Cholestasis, Benign Recurrent Intrahepatic, 1|Cholestasis, Intrahepatic, Of Pregnancy, 1|Cholestasis, Progressive Familial Intrahepatic, 1|Intrahepatic Cholestasis Of Pregnancy|Progressive Familial Intrahepatic Cholestasis Type 1|Benign Recurrent Intrahepatic Cholestasis Type 1	yes	yes	yes	yes	54.395
ATP8B2	HGNC:13534	MGI:1859660	-	-	yes	no	no	no	NA
ATP8B3	HGNC:13535	MGI:1914581	-	-	yes	no	no	no	NA
ATP8B4	HGNC:13536	MGI:1859664	-	-	yes	no	no	no	NA
ATP9A	HGNC:13540	MGI:1330826	OMIM:620242|ORPHA:528084	Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities|Non-Specific Syndromic Intellectual Disability	yes	yes	yes	yes	50
ATP9B	HGNC:13541	MGI:1354757	-	-	yes	no	no	no	NA
ATPAF1	HGNC:18803	MGI:2180560	ORPHA:254913	Isolated Atp Synthase Deficiency	no	no	no	no	NA
ATPAF2	HGNC:18802	MGI:2180561	OMIM:604273|ORPHA:254913	Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1|Isolated Atp Synthase Deficiency	yes	yes	yes	yes	34.66
ATPSCKMT	HGNC:27029	MGI:1915323	-	-	yes	no	no	no	NA
ATR	HGNC:882	MGI:108028	OMIM:614564|OMIM:210600|ORPHA:808|ORPHA:313846	Cutaneous Telangiectasia And Cancer Syndrome, Familial|Seckel Syndrome 1|Seckel Syndrome|Familial Cutaneous Telangiectasia And Oropharyngeal Cancer Predisposition Syndrome	yes	yes	yes	no	NA
ATRAID	HGNC:24090	MGI:1918918	-	-	no	no	no	no	NA
ATRIP	HGNC:33499	MGI:1925349	ORPHA:808	Seckel Syndrome	yes	yes	yes	no	NA
ATRN	HGNC:885	MGI:1341628	-	-	yes	no	no	no	NA
ATRNL1	HGNC:29063	MGI:2147749	-	-	yes	no	no	no	NA
ATRX	HGNC:886	MGI:103067	OMIM:300448|OMIM:301040|OMIM:309580|ORPHA:847|ORPHA:231401|ORPHA:96253|ORPHA:100075	Alpha-Thalassemia Myelodysplasia Syndrome|Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked|Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1|Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome|Alpha-Thalassemia-Myelodysplastic Syndrome|Cushing Disease|Neuroendocrine Tumor Of Stomach	no	no	no	no	NA
ATXN1	HGNC:10548	MGI:104783	OMIM:164400|ORPHA:98755	Spinocerebellar Ataxia 1|Spinocerebellar Ataxia Type 1	no	no	no	no	NA
ATXN10	HGNC:10549	MGI:1859293	OMIM:603516|ORPHA:98761	Spinocerebellar Ataxia 10|Spinocerebellar Ataxia Type 10	yes	yes	yes	no	NA
ATXN1L	HGNC:33279	MGI:3694797	-	-	no	no	no	no	NA
ATXN2	HGNC:10555	MGI:1277223	OMIM:183090|OMIM:168600|ORPHA:803|ORPHA:98756	Spinocerebellar Ataxia 2|Parkinson Disease, Late-Onset|Amyotrophic Lateral Sclerosis|Spinocerebellar Ataxia Type 2	no	no	no	no	NA
ATXN2L	HGNC:31326	MGI:2446242	-	-	no	no	no	no	NA
ATXN3	HGNC:7106	MGI:1099442	OMIM:109150|OMIM:168600|ORPHA:276238|ORPHA:276244|ORPHA:276241	Machado-Joseph Disease|Parkinson Disease, Late-Onset|Machado-Joseph Disease Type 1|Machado-Joseph Disease Type 3|Machado-Joseph Disease Type 2	yes	yes	yes	no	NA
ATXN7	HGNC:10560	MGI:2179277	OMIM:164500|ORPHA:94147	Spinocerebellar Ataxia 7|Spinocerebellar Ataxia Type 7	yes	yes	yes	yes	30.99
ATXN7L1	HGNC:22210	MGI:3584458	-	-	yes	no	no	no	NA
ATXN7L2	HGNC:28713	MGI:1919772	-	-	yes	no	no	no	NA
ATXN7L3	HGNC:25416	MGI:3036270	-	-	yes	no	no	no	NA
ATXN7L3B	HGNC:37931	MGI:1914971	-	-	no	no	no	no	NA
AUH	HGNC:890	MGI:1338011	OMIM:250950|ORPHA:67046	3-Methylglutaconic Aciduria, Type I|3-Methylglutaconic Aciduria Type 1	yes	yes	yes	no	NA
AUNIP	HGNC:28363	MGI:1917135	-	-	no	no	no	no	NA
AUP1	HGNC:891	MGI:107789	-	-	no	no	no	no	NA
AURKA	HGNC:11393	MGI:894678	OMIM:114500	Colorectal Cancer	yes	yes	yes	no	NA
AURKAIP1	HGNC:24114	MGI:1913327	-	-	yes	no	no	no	NA
AURKB	HGNC:11390	MGI:107168	-	-	no	no	no	no	NA
AURKC	HGNC:11391	MGI:1321119	OMIM:243060|ORPHA:137893	Spermatogenic Failure 5|Male Infertility Due To Large-Headed Multiflagellar Polyploid Spermatozoa	no	no	no	no	NA
AUTS2	HGNC:14262	MGI:1919847	OMIM:615834|ORPHA:106|ORPHA:352490|ORPHA:641372	Intellectual Developmental Disorder, Autosomal Dominant 26|Non Rare In Europe: Autism|Autism Spectrum Disorder Due To Auts2 Deficiency|B-Lymphoblastic Leukemia/Lymphoma With T(7;9)(Q11.2;P13.2)	yes	yes	yes	yes	18.19
AVEN	HGNC:13509	MGI:1921518	-	-	yes	no	no	no	NA
AVIL	HGNC:14188	MGI:1333798	OMIM:618594	Nephrotic Syndrome, Type 21	no	no	no	no	NA
AVL9	HGNC:28994	MGI:1926187	-	-	yes	no	no	no	NA
AVP	HGNC:894	MGI:88121	OMIM:125700|ORPHA:30925	Diabetes Insipidus, Neurohypophyseal|Hereditary Central Diabetes Insipidus	yes	yes	yes	no	NA
AVPI1	HGNC:30898	MGI:1916784	-	-	yes	no	no	no	NA
AVPR1A	HGNC:895	MGI:1859216	-	-	yes	no	no	no	NA
AVPR1B	HGNC:896	MGI:1347010	-	-	no	no	no	no	NA
AVPR2	HGNC:897	MGI:88123	OMIM:304800|OMIM:300539|ORPHA:223|ORPHA:93606	Diabetes Insipidus, Nephrogenic, 1, X-Linked|Nephrogenic Syndrome Of Inappropriate Antidiuresis|Nephrogenic Diabetes Insipidus	no	no	no	no	NA
AWAT1	HGNC:23252	MGI:3588200	-	-	yes	no	no	no	NA
AWAT2	HGNC:23251	MGI:3045345	-	-	yes	no	no	no	NA
AXDND1	HGNC:26564	MGI:1924602	-	-	no	no	no	no	NA
AXIN1	HGNC:903	MGI:1096327	OMIM:607864|OMIM:620558|OMIM:114550|ORPHA:210159	Caudal Duplication Anomaly|Craniometadiaphyseal Osteosclerosis With Hip Dysplasia|Hepatocellular Carcinoma|Adult Hepatocellular Carcinoma	no	no	no	no	NA
AXIN2	HGNC:904	MGI:1270862	OMIM:114500|OMIM:608615|ORPHA:2227|ORPHA:300576|ORPHA:401911|ORPHA:99798	Colorectal Cancer|Oligodontia-Colorectal Cancer Syndrome|Non Rare In Europe: Hypodontia|Oligodontia-Cancer Predisposition Syndrome|Axin2-Related Attenuated Familial Adenomatous Polyposis|Oligodontia	yes	yes	yes	yes	34.62
AXL	HGNC:905	MGI:1347244	-	-	no	no	no	no	NA
AZGP1	HGNC:910	MGI:103163	-	-	no	no	no	no	NA
AZI2	HGNC:24002	MGI:1351332	-	-	no	no	no	no	NA
AZIN1	HGNC:16432	MGI:1859169	-	-	no	no	no	no	NA
AZIN2	HGNC:29957	MGI:2442093	-	-	no	no	no	no	NA
B2M	HGNC:914	MGI:88127	OMIM:105200|OMIM:241600|ORPHA:314652|ORPHA:34592	Amyloidosis, Familial Visceral|Immunodeficiency 43|Variant Abeta2M Amyloidosis|Immunodeficiency By Defective Expression Of Mhc Class I	yes	yes	yes	yes	23.3
B3GALNT1	HGNC:918	MGI:1349405	OMIM:111400|OMIM:615021	Blood Group, P1Pk System|Blood Group, Globoside System	no	no	no	no	NA
B3GALNT2	HGNC:28596	MGI:2145517	OMIM:615181|ORPHA:588|ORPHA:899|ORPHA:88616	Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11|Muscle-Eye-Brain Disease|Walker-Warburg Syndrome|Autosomal Recessive Non-Syndromic Intellectual Disability	yes	yes	yes	yes	15.74
B3GALT1	HGNC:916	MGI:1349403	-	-	yes	no	no	no	NA
B3GALT2	HGNC:917	MGI:1349461	-	-	yes	no	no	no	NA
B3GALT4	HGNC:919	MGI:1859517	-	-	no	no	no	no	NA
B3GALT5	HGNC:920	MGI:2136878	-	-	no	no	no	no	NA
B3GALT6	HGNC:17978	MGI:2152819	OMIM:609465|OMIM:615349|OMIM:271640|ORPHA:536467|ORPHA:642099	Al-Gazali Syndrome|Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2|Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures|B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome|Spondyloepimetaphyseal Dysplasia With Joint Laxity, Beighton Type	yes	yes	yes	no	NA
B3GAT1	HGNC:921	MGI:1924148	-	-	no	no	no	no	NA
B3GAT2	HGNC:922	MGI:2389490	-	-	no	no	no	no	NA
B3GAT3	HGNC:923	MGI:1919977	OMIM:245600|ORPHA:284139	Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects|Larsen-Like Syndrome, B3Gat3 Type	no	no	no	no	NA
B3GLCT	HGNC:20207	MGI:2685903	OMIM:261540|ORPHA:709	Peters-Plus Syndrome|Peters Plus Syndrome	no	no	no	no	NA
B3GNT2	HGNC:15629	MGI:1889505	-	-	no	no	no	no	NA
B3GNT3	HGNC:13528	MGI:2152535	-	-	no	no	no	no	NA
B3GNT4	HGNC:15683	MGI:2680208	-	-	no	no	no	no	NA
B3GNT5	HGNC:15684	MGI:2137302	-	-	no	no	no	no	NA
B3GNT6	HGNC:24141	MGI:3039603	-	-	no	no	no	no	NA
B3GNT7	HGNC:18811	MGI:2384394	-	-	yes	no	no	no	NA
B3GNT8	HGNC:24139	MGI:2385269	-	-	no	no	no	no	NA
B3GNT9	HGNC:28714	MGI:2142841	-	-	no	no	no	no	NA
B3GNTL1	HGNC:21727	MGI:2441705	-	-	no	no	no	no	NA
B4GALNT1	HGNC:4117	MGI:1342057	OMIM:609195|ORPHA:101006	Spastic Paraplegia 26, Autosomal Recessive|Autosomal Recessive Spastic Paraplegia Type 26	no	no	no	no	NA
B4GALNT2	HGNC:24136	MGI:1342058	OMIM:615018	Blood Group, Sid System	no	no	no	no	NA
B4GALNT3	HGNC:24137	MGI:3041155	-	-	yes	no	no	no	NA
B4GALNT4	HGNC:26315	MGI:2652891	-	-	yes	no	no	no	NA
B4GALT1	HGNC:924	MGI:95705	OMIM:620364|OMIM:607091|ORPHA:79332	Combined Low Ldl And Fibrinogen|Congenital Disorder Of Glycosylation, Type Iid|B4Galt1-Cdg	no	no	no	no	NA
B4GALT2	HGNC:925	MGI:1858493	-	-	no	no	no	no	NA
B4GALT3	HGNC:926	MGI:1928767	-	-	no	no	no	no	NA
B4GALT4	HGNC:927	MGI:1928387	-	-	no	no	no	no	NA
B4GALT5	HGNC:928	MGI:1927169	-	-	yes	no	no	no	NA
B4GALT6	HGNC:929	MGI:1928380	-	-	no	no	no	no	NA
B4GALT7	HGNC:930	MGI:2384987	OMIM:130070|ORPHA:75496	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1|B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	no	no	no	no	NA
B4GAT1	HGNC:15685	MGI:1919680	OMIM:615287|ORPHA:899	Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13|Walker-Warburg Syndrome	yes	yes	yes	no	NA
B9D1	HGNC:24123	MGI:1351471	OMIM:614209|OMIM:617120|ORPHA:564|ORPHA:475	Meckel Syndrome, Type 9|Joubert Syndrome 27|Meckel Syndrome|Joubert Syndrome	yes	yes	yes	yes	28.005
B9D2	HGNC:28636	MGI:2387643	OMIM:614175|ORPHA:564|ORPHA:475	Meckel Syndrome, Type 10|Meckel Syndrome|Joubert Syndrome	yes	yes	yes	no	NA
BAALC	HGNC:14333	MGI:1928704	-	-	no	no	no	no	NA
BAAT	HGNC:932	MGI:106642	OMIM:619232|ORPHA:238475	Bile Acid Conjugation Defect 1|Familial Hypercholanemia	yes	yes	yes	yes	28
BABAM1	HGNC:25008	MGI:1915501	-	-	yes	no	no	no	NA
BABAM2	HGNC:1106	MGI:1333875	-	-	yes	no	no	no	NA
BACE1	HGNC:933	MGI:1346542	-	-	no	no	no	no	NA
BACE2	HGNC:934	MGI:1860440	-	-	yes	no	no	no	NA
BACH1	HGNC:935	MGI:894680	-	-	yes	no	no	no	NA
BACH2	HGNC:14078	MGI:894679	OMIM:618394	Immunodeficiency 60 And Autoimmunity	yes	yes	yes	yes	55.805
BAD	HGNC:936	MGI:1096330	-	-	no	no	no	no	NA
BAG1	HGNC:937	MGI:108047	-	-	yes	no	no	no	NA
BAG2	HGNC:938	MGI:1891254	-	-	yes	no	no	no	NA
BAG3	HGNC:939	MGI:1352493	OMIM:613881|OMIM:612954|ORPHA:154|ORPHA:199340	Cardiomyopathy, Dilated, 1Hh|Myopathy, Myofibrillar, 6|Familial Isolated Dilated Cardiomyopathy|Muscular Dystrophy, Selcen Type	yes	yes	yes	no	NA
BAG4	HGNC:940	MGI:1914634	-	-	no	no	no	no	NA
BAG5	HGNC:941	MGI:1917619	OMIM:619747|ORPHA:154	Cardiomyopathy, Dilated, 2F|Familial Isolated Dilated Cardiomyopathy	yes	yes	yes	no	NA
BAG6	HGNC:13919	MGI:1919439	-	-	no	no	no	no	NA
BAHCC1	HGNC:29279	MGI:2679272	-	-	no	no	no	no	NA
BAHD1	HGNC:29153	MGI:2139371	-	-	yes	no	no	no	NA
BAIAP2	HGNC:947	MGI:2137336	-	-	yes	no	no	no	NA
BAIAP2L1	HGNC:21649	MGI:1914148	-	-	yes	no	no	no	NA
BAIAP2L2	HGNC:26203	MGI:2652819	-	-	yes	no	no	no	NA
BAIAP3	HGNC:948	MGI:2685783	-	-	no	no	no	no	NA
BAK1	HGNC:949	MGI:1097161	-	-	no	no	no	no	NA
BAMBI	HGNC:30251	MGI:1915260	-	-	yes	no	no	no	NA
BANF1	HGNC:17397	MGI:1346330	OMIM:614008|ORPHA:280576	Nestor-Guillermo Progeria Syndrome	yes	yes	yes	yes	22.51
BANF2	HGNC:16172	MGI:2684961	-	-	no	no	no	no	NA
BANK1	HGNC:18233	MGI:2442120	ORPHA:536	Systemic Lupus Erythematosus	no	no	no	no	NA
BANP	HGNC:13450	MGI:1889023	-	-	yes	no	no	no	NA
BAP1	HGNC:950	MGI:1206586	OMIM:619762|OMIM:614327|OMIM:606661|ORPHA:2495|ORPHA:618|ORPHA:289539|ORPHA:39044|ORPHA:50251|ORPHA:528084	Kury-Isidor Syndrome|Tumor Predisposition Syndrome 1|Melanoma, Uveal, Susceptibility To, 2|Meningioma|Familial Melanoma|Bap1-Related Tumor Predisposition Syndrome|Uveal Melanoma|Pleural Mesothelioma|Non-Specific Syndromic Intellectual Disability	yes	yes	yes	yes	20.935
BARD1	HGNC:952	MGI:1328361	OMIM:114480|ORPHA:145	Breast Cancer|Hereditary Breast And/Or Ovarian Cancer Syndrome	no	no	no	no	NA
BARHL1	HGNC:953	MGI:1859288	-	-	no	no	no	no	NA
BARHL2	HGNC:954	MGI:1859314	-	-	no	no	no	no	NA
BARX1	HGNC:955	MGI:103124	-	-	no	no	no	no	NA
BARX2	HGNC:956	MGI:109617	-	-	yes	no	no	no	NA
BASP1	HGNC:957	MGI:1917600	-	-	no	no	no	no	NA
BATF	HGNC:958	MGI:1859147	-	-	no	no	no	no	NA
BATF2	HGNC:25163	MGI:1921731	-	-	no	no	no	no	NA
BATF3	HGNC:28915	MGI:1925491	-	-	yes	no	no	no	NA
BAX	HGNC:959	MGI:99702	OMIM:114500|OMIM:613065	Colorectal Cancer|Leukemia, Acute Lymphoblastic	no	no	no	no	NA
BAZ1A	HGNC:960	MGI:1309478	-	-	yes	no	no	no	NA
BAZ1B	HGNC:961	MGI:1353499	ORPHA:904	Williams Syndrome	yes	yes	yes	yes	26.415
BAZ2A	HGNC:962	MGI:2151152	-	-	yes	no	no	no	NA
BAZ2B	HGNC:963	MGI:2442782	-	-	yes	no	no	no	NA
BBC3	HGNC:17868	MGI:2181667	-	-	yes	no	no	no	NA
BBIP1	HGNC:28093	MGI:1913610	OMIM:615995|ORPHA:110	Bardet-Biedl Syndrome 18|Bardet-Biedl Syndrome	yes	yes	yes	yes	25.28
BBLN	HGNC:17823	MGI:1920987	-	-	no	no	no	no	NA
BBOF1	HGNC:19855	MGI:1920123	-	-	yes	no	no	no	NA
BBOX1	HGNC:964	MGI:1891372	-	-	yes	no	no	no	NA
BBS1	HGNC:966	MGI:1277215	OMIM:209900|ORPHA:791|ORPHA:110	Bardet-Biedl Syndrome 1|Retinitis Pigmentosa|Bardet-Biedl Syndrome	yes	yes	yes	yes	21.625
BBS10	HGNC:26291	MGI:1919019	OMIM:615987|ORPHA:110	Bardet-Biedl Syndrome 10|Bardet-Biedl Syndrome	yes	yes	yes	no	NA
BBS12	HGNC:26648	MGI:2686651	OMIM:615989|ORPHA:110	Bardet-Biedl Syndrome 12|Bardet-Biedl Syndrome	yes	yes	yes	yes	18.61
BBS2	HGNC:967	MGI:2135267	OMIM:615981|OMIM:616562|ORPHA:791|ORPHA:110	Bardet-Biedl Syndrome 2|Retinitis Pigmentosa 74|Retinitis Pigmentosa|Bardet-Biedl Syndrome	yes	yes	yes	yes	18.94
BBS4	HGNC:969	MGI:2143311	OMIM:615982|ORPHA:110	Bardet-Biedl Syndrome 4|Bardet-Biedl Syndrome	yes	yes	yes	no	NA
BBS5	HGNC:970	MGI:1919819	OMIM:615983|ORPHA:110	Bardet-Biedl Syndrome 5|Bardet-Biedl Syndrome	yes	yes	yes	yes	40.09
BBS7	HGNC:18758	MGI:1918742	OMIM:615984|ORPHA:110	Bardet-Biedl Syndrome 7|Bardet-Biedl Syndrome	yes	yes	yes	no	NA
BBS9	HGNC:30000	MGI:2442833	OMIM:615986|ORPHA:110	Bardet-Biedl Syndrome 9|Bardet-Biedl Syndrome	no	no	no	no	NA
BBX	HGNC:14422	MGI:1917758	-	-	yes	no	no	no	NA
BCAM	HGNC:6722	MGI:1929940	OMIM:111200|OMIM:247420	Blood Group--Lutheran System|Lutheran Null	no	no	no	no	NA
BCAN	HGNC:23059	MGI:1096385	-	-	yes	no	no	no	NA
BCAP29	HGNC:24131	MGI:101917	-	-	yes	no	no	no	NA
BCAP31	HGNC:16695	MGI:1350933	OMIM:300475|ORPHA:369942|ORPHA:369939	Deafness, Dystonia, And Cerebral Hypomyelination|Cadds|Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome	no	no	no	no	NA
BCAR1	HGNC:971	MGI:108091	-	-	no	no	no	no	NA
BCAR3	HGNC:973	MGI:1352501	-	-	yes	no	no	no	NA
BCAS1	HGNC:974	MGI:1924210	-	-	yes	no	no	no	NA
BCAS2	HGNC:975	MGI:1915433	-	-	no	no	no	no	NA
BCAS3	HGNC:14347	MGI:2385848	OMIM:619641|ORPHA:528084	Hengel-Maroofian-Schols Syndrome|Non-Specific Syndromic Intellectual Disability	no	no	no	no	NA
BCAT1	HGNC:976	MGI:104861	-	-	no	no	no	no	NA
BCAT2	HGNC:977	MGI:1276534	OMIM:618850	Hypervalinemia And Hyperleucine-Isoleucinemia	no	no	no	no	NA
BCCIP	HGNC:978	MGI:1913415	-	-	yes	no	no	no	NA
BCDIN3D	HGNC:27050	MGI:1922534	-	-	yes	no	no	no	NA
BCHE	HGNC:983	MGI:894278	OMIM:617936|ORPHA:132	Butyrylcholinesterase Deficiency	no	no	no	no	NA
BCKDHA	HGNC:986	MGI:107701	OMIM:248600|ORPHA:268162|ORPHA:268145|ORPHA:268184|ORPHA:268173	Maple Syrup Urine Disease|Intermediate Maple Syrup Urine Disease|Classic Maple Syrup Urine Disease|Thiamine-Responsive Maple Syrup Urine Disease|Intermittent Maple Syrup Urine Disease	yes	yes	yes	no	NA
BCKDHB	HGNC:987	MGI:88137	OMIM:248600|ORPHA:268162|ORPHA:268145|ORPHA:268184|ORPHA:268173	Maple Syrup Urine Disease|Intermediate Maple Syrup Urine Disease|Classic Maple Syrup Urine Disease|Thiamine-Responsive Maple Syrup Urine Disease|Intermittent Maple Syrup Urine Disease	yes	yes	no	no	NA
BCKDK	HGNC:16902	MGI:1276121	OMIM:614923|ORPHA:308410	Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency|Autism-Epilepsy Syndrome Due To Branched Chain Ketoacid Dehydrogenase Kinase Deficiency	no	no	no	no	NA
BCL10	HGNC:989	MGI:1337994	OMIM:616098|OMIM:273300|OMIM:137245|OMIM:605027|OMIM:156240|ORPHA:52417	Immunodeficiency 37|Testicular Germ Cell Tumor|Lymphoma, Mucosa-Associated Lymphoid Type|Lymphoma, Non-Hodgkin, Familial|Mesothelioma, Malignant|Malt Lymphoma	no	no	no	no	NA
BCL11A	HGNC:13221	MGI:106190	OMIM:617101|ORPHA:251380|ORPHA:619233	Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin|Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome|Hereditary Persistence Of Fetal Hemoglobin-Intellectual Disability Syndrome	no	no	no	no	NA
BCL11B	HGNC:13222	MGI:1929913	OMIM:617237|OMIM:618092	Immunodeficiency 49|Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	yes	yes	yes	yes	37.435
BCL2	HGNC:990	MGI:88138	ORPHA:545|ORPHA:480541|ORPHA:98839	Follicular Lymphoma|High Grade B-Cell Lymphoma With Myc And/ Or Bcl2 And/Or Bcl6 Rearrangement|Intravascular Large B-Cell Lymphoma	no	no	no	no	NA
BCL2L1	HGNC:992	MGI:88139	-	-	no	no	no	no	NA
BCL2L10	HGNC:993	MGI:1330841	-	-	no	no	no	no	NA
BCL2L11	HGNC:994	MGI:1197519	-	-	yes	no	no	no	NA
BCL2L12	HGNC:13787	MGI:1922986	-	-	yes	no	no	no	NA
BCL2L13	HGNC:17164	MGI:2136959	-	-	yes	no	no	no	NA
BCL2L14	HGNC:16657	MGI:1914063	-	-	no	no	no	no	NA
BCL2L15	HGNC:33624	MGI:2685412	-	-	yes	no	no	no	NA
BCL2L2	HGNC:995	MGI:108052	-	-	no	no	no	no	NA
BCL3	HGNC:998	MGI:88140	-	-	yes	no	no	no	NA
BCL6	HGNC:1001	MGI:107187	ORPHA:545|ORPHA:480541|ORPHA:98838|ORPHA:98839	Follicular Lymphoma|High Grade B-Cell Lymphoma With Myc And/ Or Bcl2 And/Or Bcl6 Rearrangement|Primary Mediastinal Large B-Cell Lymphoma|Intravascular Large B-Cell Lymphoma	no	no	no	no	NA
BCL6B	HGNC:1002	MGI:1278332	-	-	no	no	no	no	NA
BCL7A	HGNC:1004	MGI:1924295	-	-	yes	no	no	no	NA
BCL7B	HGNC:1005	MGI:1332238	ORPHA:904	Williams Syndrome	yes	yes	yes	yes	17.285
BCL7C	HGNC:1006	MGI:1332237	-	-	yes	no	no	no	NA
BCL9	HGNC:1008	MGI:1924828	-	-	yes	no	no	no	NA
BCL9L	HGNC:23688	MGI:1933114	-	-	yes	no	no	no	NA
BCLAF1	HGNC:16863	MGI:1917580	-	-	yes	no	no	no	NA
BCLAF3	HGNC:27413	MGI:2685992	-	-	yes	no	no	no	NA
BCO1	HGNC:13815	MGI:1926923	OMIM:115300|ORPHA:199285	Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant|Hereditary Hypercarotenemia And Vitamin A Deficiency	no	no	no	no	NA
BCO2	HGNC:18503	MGI:2177469	-	-	no	no	no	no	NA
BCOR	HGNC:20893	MGI:1918708	OMIM:300166|ORPHA:568|ORPHA:2712|ORPHA:457246|ORPHA:520	Microphthalmia, Syndromic 2|Microphthalmia, Lenz Type|Oculofaciocardiodental Syndrome|Clear Cell Sarcoma Of Kidney|Acute Promyelocytic Leukemia	no	no	no	no	NA
BCORL1	HGNC:25657	MGI:2443910	OMIM:301029|ORPHA:528084	Shukla-Vernon Syndrome|Non-Specific Syndromic Intellectual Disability	yes	yes	yes	no	NA
BCR	HGNC:1014	MGI:88141	OMIM:608232|OMIM:613065|ORPHA:261330|ORPHA:521|ORPHA:585909|ORPHA:99861	Leukemia, Chronic Myeloid|Leukemia, Acute Lymphoblastic|Distal 22Q11.2 Microdeletion Syndrome|Chronic Myeloid Leukemia|B-Lymphoblastic Leukemia/Lymphoma With T(9;22)(Q34.1;Q11.2)|Precursor T-Cell Acute Lymphoblastic Leukemia	no	no	no	no	NA
BCS1L	HGNC:1020	MGI:1914071	OMIM:262000|OMIM:603358|OMIM:124000|ORPHA:254902|ORPHA:1460|ORPHA:123|ORPHA:53693	Bjornstad Syndrome|Gracile Syndrome|Mitochondrial Complex Iii Deficiency, Nuclear Type 1|Renal Tubulopathy-Encephalopathy-Liver Failure Syndrome|Isolated Complex Iii Deficiency|Björnstad Syndrome	yes	yes	yes	yes	19.495
BDH1	HGNC:1027	MGI:1919161	-	-	no	no	no	no	NA
BDH2	HGNC:32389	MGI:1917022	-	-	yes	no	no	no	NA
BDKRB1	HGNC:1029	MGI:88144	-	-	yes	no	no	no	NA
BDKRB2	HGNC:1030	MGI:102845	-	-	no	no	no	no	NA
BDNF	HGNC:1033	MGI:88145	ORPHA:893|ORPHA:661	Wagr Syndrome|Congenital Central Hypoventilation Syndrome	no	no	no	no	NA
BDP1	HGNC:13652	MGI:1347077	OMIM:618257|ORPHA:90636	Deafness, Autosomal Recessive 112|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	yes	yes	yes	no	NA
BEAN1	HGNC:24160	MGI:1929597	OMIM:117210|ORPHA:217012	Spinocerebellar Ataxia 31|Spinocerebellar Ataxia Type 31	yes	yes	yes	yes	54.06
BECN1	HGNC:1034	MGI:1891828	-	-	yes	no	no	no	NA
BECN2	HGNC:38606	MGI:2684950	-	-	no	no	no	no	NA
BEGAIN	HGNC:24163	MGI:3044626	-	-	yes	no	no	no	NA
BEND3	HGNC:23040	MGI:2677212	-	-	yes	no	no	no	NA
BEND4	HGNC:23815	MGI:3648414	-	-	no	no	no	no	NA
BEND5	HGNC:25668	MGI:1914871	-	-	no	no	no	no	NA
BEND6	HGNC:20871	MGI:2444572	-	-	yes	no	no	no	NA
BEND7	HGNC:23514	MGI:2443100	-	-	yes	no	no	no	NA
BEST1	HGNC:12703	MGI:1346332	OMIM:193220|OMIM:611809|OMIM:153700|OMIM:613194|ORPHA:791|ORPHA:139455|ORPHA:263347|ORPHA:3086|ORPHA:1243|ORPHA:35612|ORPHA:99000	Vitreoretinochoroidopathy|Bestrophinopathy, Autosomal Recessive|Macular Dystrophy, Vitelliform, 2|Retinitis Pigmentosa 50|Retinitis Pigmentosa|Autosomal Recessive Bestrophinopathy|Mrcs Syndrome|Autosomal Dominant Vitreoretinochoroidopathy|Best Vitelliform Macular Dystrophy|Nanophthalmos|Adult-Onset Foveomacular Vitelliform Dystrophy	no	no	no	no	NA
BEST2	HGNC:17107	MGI:2387588	-	-	yes	no	no	no	NA
BEST3	HGNC:17105	MGI:3580298	-	-	no	no	no	no	NA
BET1	HGNC:14562	MGI:1343104	-	-	no	no	no	no	NA
BET1L	HGNC:19348	MGI:1913128	-	-	no	no	no	no	NA
BEX3	HGNC:13388	MGI:1338016	-	-	yes	no	no	no	NA
BFSP1	HGNC:1040	MGI:101770	OMIM:611391|ORPHA:98991	Cataract 33, Multiple Types|Early-Onset Nuclear Cataract	yes	yes	yes	no	NA
BFSP2	HGNC:1041	MGI:1333828	OMIM:611597|ORPHA:441452|ORPHA:98984|ORPHA:98985	Cataract 12, Multiple Types|Early-Onset Lamellar Cataract|Pulverulent Cataract|Early-Onset Sutural Cataract	no	no	no	no	NA
BGN	HGNC:1044	MGI:88158	OMIM:300989|OMIM:300106|ORPHA:93349|ORPHA:622925	Meester-Loeys Syndrome|Spondyloepimetaphyseal Dysplasia, X-Linked|X-Linked Spondyloepimetaphyseal Dysplasia|X-Linked Severe Syndromic Thoracic Aortic Aneurysm And Dissection	yes	yes	yes	no	NA
BHLHA15	HGNC:22265	MGI:891976	-	-	no	no	no	no	NA
BHLHA9	HGNC:35126	MGI:2444198	OMIM:607539|OMIM:609432|ORPHA:157801|ORPHA:1986|ORPHA:3329	Camptosynpolydactyly, Complex|Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction|Mesoaxial Synostotic Syndactyly With Phalangeal Reduction|Gollop-Wolfgang Complex|Tibial Aplasia-Ectrodactyly Syndrome	yes	yes	yes	no	NA
BHLHE22	HGNC:11963	MGI:1930001	-	-	no	no	no	no	NA
BHLHE23	HGNC:16093	MGI:2153710	-	-	no	no	no	no	NA
BHLHE40	HGNC:1046	MGI:1097714	-	-	yes	no	no	no	NA
BHLHE41	HGNC:16617	MGI:1930704	OMIM:612975	Short Sleep, Familial Natural, 1	no	no	no	no	NA
BHMT2	HGNC:1048	MGI:1891379	-	-	no	no	no	no	NA
BICC1	HGNC:19351	MGI:1933388	OMIM:601331|ORPHA:730	Renal Dysplasia, Cystic, Susceptibility To|Autosomal Dominant Polycystic Kidney Disease	yes	yes	yes	yes	33.85
BICD1	HGNC:1049	MGI:1101760	-	-	yes	no	no	no	NA
BICD2	HGNC:17208	MGI:1924145	OMIM:615290|OMIM:618291|ORPHA:363454	Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant|Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant|Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy	no	no	no	no	NA
BICDL1	HGNC:28095	MGI:1922915	-	-	yes	no	no	no	NA
BICDL2	HGNC:33584	MGI:2388267	-	-	yes	no	no	no	NA
BICRA	HGNC:4332	MGI:2154263	OMIM:619325	Coffin-Siris Syndrome 12	yes	yes	yes	no	NA
BICRAL	HGNC:21111	MGI:2673855	-	-	yes	no	no	no	NA
BID	HGNC:1050	MGI:108093	-	-	no	no	no	no	NA
BIK	HGNC:1051	MGI:1206591	-	-	no	no	no	no	NA
BIN1	HGNC:1052	MGI:108092	OMIM:255200|ORPHA:169186|ORPHA:169189	Myopathy, Centronuclear, 2|Autosomal Recessive Centronuclear Myopathy|Autosomal Dominant Centronuclear Myopathy	yes	yes	yes	no	NA
BIN2	HGNC:1053	MGI:3611448	-	-	yes	no	no	no	NA
BIN3	HGNC:1054	MGI:1929883	-	-	no	no	no	no	NA
BIRC2	HGNC:590	MGI:1197009	-	-	no	no	no	no	NA
BIRC3	HGNC:591	MGI:1197007	ORPHA:52417	Malt Lymphoma	no	no	no	no	NA
BIRC5	HGNC:593	MGI:1203517	-	-	no	no	no	no	NA
BIRC6	HGNC:13516	MGI:1276108	-	-	yes	no	no	no	NA
BIRC7	HGNC:13702	MGI:2676458	-	-	yes	no	no	no	NA
BIVM	HGNC:16034	MGI:2179809	-	-	yes	no	no	no	NA
BLCAP	HGNC:1055	MGI:1858907	-	-	yes	no	no	no	NA
BLK	HGNC:1057	MGI:88169	OMIM:613375|ORPHA:536|ORPHA:552	Maturity-Onset Diabetes Of The Young, Type 11|Systemic Lupus Erythematosus|Mody	yes	yes	yes	yes	16.47
BLM	HGNC:1058	MGI:1328362	OMIM:210900|ORPHA:125	Bloom Syndrome	no	no	no	no	NA
BLMH	HGNC:1059	MGI:1345186	-	-	no	no	no	no	NA
BLNK	HGNC:14211	MGI:96878	OMIM:613502|ORPHA:33110	Agammaglobulinemia 4, Autosomal Recessive|Autosomal Agammaglobulinemia	yes	yes	yes	yes	56.115
BLOC1S1	HGNC:4200	MGI:1195276	-	-	yes	no	no	no	NA
BLOC1S2	HGNC:20984	MGI:1920939	-	-	yes	no	no	no	NA
BLOC1S3	HGNC:20914	MGI:2678952	OMIM:614077|ORPHA:231531	Hermansky-Pudlak Syndrome 8|Hermansky-Pudlak Syndrome Due To Bloc-1 Deficiency	yes	no	yes	no	NA
BLOC1S4	HGNC:24206	MGI:1929230	-	-	yes	no	no	no	NA
BLOC1S5	HGNC:18561	MGI:2178598	OMIM:619172|ORPHA:231531	Hermansky-Pudlak Syndrome 11|Hermansky-Pudlak Syndrome Due To Bloc-1 Deficiency	yes	yes	yes	yes	62.665
BLOC1S6	HGNC:8549	MGI:1927580	OMIM:614171|ORPHA:231531	Hermansky-Pudlak Syndrome 9|Hermansky-Pudlak Syndrome Due To Bloc-1 Deficiency	yes	yes	yes	yes	27.065
BLTP1	HGNC:26953	MGI:2444631	OMIM:617822|ORPHA:610569	Alkuraya-Kucinskas Syndrome|Kiaa1109-Related Early Lethal Congenital Brain Malformations-Arthrogryposis Syndrome	yes	yes	yes	yes	40.295
BLTP2	HGNC:28960	MGI:1919753	-	-	yes	no	no	no	NA
BLTP3A	HGNC:21216	MGI:3041238	-	-	no	no	no	no	NA
BLTP3B	HGNC:29102	MGI:2442888	-	-	yes	no	no	no	NA
BLVRA	HGNC:1062	MGI:88170	OMIM:614156|ORPHA:276405	Hyperbiliverdinemia	no	no	no	no	NA
BLVRB	HGNC:1063	MGI:2385271	-	-	yes	no	no	no	NA
BLZF1	HGNC:1065	MGI:1201607	-	-	yes	no	no	no	NA
BMAL1	HGNC:701	MGI:1096381	-	-	no	no	no	no	NA
BMAL2	HGNC:18984	MGI:2684845	-	-	no	no	no	no	NA
BMERB1	HGNC:19213	MGI:1914504	-	-	yes	no	no	no	NA
BMF	HGNC:24132	MGI:2176433	-	-	no	no	no	no	NA
BMI1	HGNC:1066	MGI:88174	-	-	yes	no	no	no	NA
BMP1	HGNC:1067	MGI:88176	OMIM:614856|ORPHA:216812|ORPHA:314029	Osteogenesis Imperfecta, Type Xiii|Osteogenesis Imperfecta Type 3|High Bone Mass Osteogenesis Imperfecta	yes	yes	yes	no	NA
BMP10	HGNC:20869	MGI:1338820	-	-	yes	no	no	no	NA
BMP15	HGNC:1068	MGI:1316745	OMIM:300510|ORPHA:243|ORPHA:619	Ovarian Dysgenesis 2|46,Xx Gonadal Dysgenesis|Non Rare In Europe: Primary Ovarian Failure	no	no	no	no	NA
BMP2	HGNC:1069	MGI:88177	OMIM:112600|OMIM:235200|OMIM:617877|ORPHA:261295|ORPHA:93396	Brachydactyly, Type A2|Hemochromatosis, Type 1|Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1|20P12.3 Microdeletion Syndrome|Brachydactyly Type A2	no	no	no	no	NA
BMP2K	HGNC:18041	MGI:2155456	-	-	yes	no	no	no	NA
BMP3	HGNC:1070	MGI:88179	-	-	no	no	no	no	NA
BMP4	HGNC:1071	MGI:88180	OMIM:607932|OMIM:600625|ORPHA:199306|ORPHA:139471|ORPHA:93100	Microphthalmia, Syndromic 6|Orofacial Cleft 11|Cleft Lip/Palate|Microphthalmia With Brain And Digit Anomalies|Renal Agenesis, Unilateral	yes	yes	yes	yes	49.24
BMP5	HGNC:1072	MGI:88181	-	-	yes	no	no	no	NA
BMP6	HGNC:1073	MGI:88182	OMIM:620121|ORPHA:465508	Iron Overload, Susceptibility To|Symptomatic Form Of Hfe-Related Hemochromatosis	yes	yes	yes	yes	51.605
BMP7	HGNC:1074	MGI:103302	-	-	yes	no	no	no	NA
BMPER	HGNC:24154	MGI:1920480	OMIM:608022|ORPHA:66637|ORPHA:85200	Diaphanospondylodysostosis|Ischiovertebral Syndrome	no	no	no	no	NA
BMPR1A	HGNC:1076	MGI:1338938	OMIM:610069|OMIM:174900|ORPHA:157794|ORPHA:329971|ORPHA:440437|ORPHA:79076	Polyposis Syndrome, Hereditary Mixed, 2|Juvenile Polyposis Syndrome|Hereditary Mixed Polyposis Syndrome|Generalized Juvenile Polyposis/Juvenile Polyposis Coli|Familial Colorectal Cancer Type X|Juvenile Polyposis Of Infancy	no	no	no	no	NA
BMPR1B	HGNC:1077	MGI:107191	OMIM:609441|OMIM:616849|OMIM:112600|ORPHA:2098|ORPHA:2639|ORPHA:93388|ORPHA:93384|ORPHA:93396	Acromesomelic Dysplasia 3|Brachydactyly, Type A1, D|Brachydactyly, Type A2|Acromesomelic Dysplasia, Grebe Type|Fibular Aplasia-Complex Brachydactyly Syndrome|Brachydactyly Type A1|Brachydactyly Type C|Brachydactyly Type A2	yes	yes	yes	yes	38.385
BMPR2	HGNC:1078	MGI:1095407	OMIM:178600|OMIM:265450|ORPHA:275777|ORPHA:275786|ORPHA:31837	Pulmonary Hypertension, Primary, 1|Pulmonary Venoocclusive Disease 1, Autosomal Dominant|Heritable Pulmonary Arterial Hypertension|Drug- Or Toxin-Induced Pulmonary Arterial Hypertension|Pulmonary Venoocclusive Disease	no	no	no	no	NA
BMS1	HGNC:23505	MGI:2446132	OMIM:107600|ORPHA:1114	Aplasia Cutis Congenita, Nonsyndromic|Aplasia Cutis Congenita	yes	yes	yes	no	NA
BMT2	HGNC:26475	MGI:2141466	-	-	no	no	no	no	NA
BMX	HGNC:1079	MGI:1101778	-	-	yes	no	no	no	NA
BNC1	HGNC:1081	MGI:1097164	OMIM:618723|ORPHA:243	Premature Ovarian Failure 16|46,Xx Gonadal Dysgenesis	yes	yes	yes	yes	42.475
BNC2	HGNC:30988	MGI:2443805	OMIM:618612|ORPHA:93110	Lower Urinary Tract Obstruction, Congenital|Posterior Urethral Valve	yes	yes	yes	no	NA
BNIP1	HGNC:1082	MGI:109328	-	-	yes	no	no	no	NA
BNIP2	HGNC:1083	MGI:109327	-	-	yes	no	no	no	NA
BNIP3	HGNC:1084	MGI:109326	-	-	yes	no	no	no	NA
BNIP3L	HGNC:1085	MGI:1332659	-	-	no	no	no	no	NA
BNIP5	HGNC:33769	MGI:1925441	-	-	yes	no	no	no	NA
BNIPL	HGNC:16976	MGI:2384749	-	-	no	no	no	no	NA
BOC	HGNC:17173	MGI:2151153	-	-	yes	no	no	no	NA
BOD1L1	HGNC:31792	MGI:2444804	-	-	no	no	no	no	NA
BOK	HGNC:1087	MGI:1858494	-	-	yes	no	no	no	NA
BOLA1	HGNC:24263	MGI:1916418	-	-	yes	no	no	no	NA
BOLA3	HGNC:24415	MGI:1925903	OMIM:614299|ORPHA:401874	Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia|Multiple Mitochondrial Dysfunctions Syndrome Type 2	yes	no	yes	no	NA
BOLL	HGNC:14273	MGI:1922638	-	-	no	no	no	no	NA
BOP1	HGNC:15519	MGI:1334460	-	-	no	no	no	no	NA
BORA	HGNC:24724	MGI:1924994	-	-	no	no	no	no	NA
BORCS5	HGNC:17950	MGI:1915024	-	-	yes	no	no	no	NA
BORCS6	HGNC:25939	MGI:1919173	-	-	yes	no	no	no	NA
BORCS7	HGNC:23516	MGI:1913689	-	-	no	no	no	no	NA
BORCS8	HGNC:37247	MGI:1919618	-	-	yes	no	no	no	NA
BPGM	HGNC:1093	MGI:1098242	OMIM:222800|ORPHA:247378|ORPHA:714	Erythrocytosis, Familial, 8|Autosomal Recessive Secondary Polycythemia Not Associated With Vhl Gene|Hemolytic Anemia Due To Diphosphoglycerate Mutase Deficiency	yes	yes	yes	no	NA
BPHL	HGNC:1094	MGI:1915271	-	-	yes	no	no	no	NA
BPI	HGNC:1095	MGI:3045315	-	-	yes	no	no	no	NA
BPIFA2	HGNC:16203	MGI:97787	-	-	yes	no	no	no	NA
BPIFA3	HGNC:16204	MGI:1920638	-	-	yes	no	no	no	NA
BPIFB1	HGNC:16108	MGI:2137431	-	-	yes	no	no	no	NA
BPIFB2	HGNC:16177	MGI:1913807	-	-	no	no	no	no	NA
BPIFB3	HGNC:16178	MGI:2675077	-	-	yes	no	no	no	NA
BPIFB4	HGNC:16179	MGI:2685852	-	-	no	no	no	no	NA
BPIFB6	HGNC:16504	MGI:2684965	-	-	no	no	no	no	NA
BPIFC	HGNC:16503	MGI:3026884	-	-	yes	no	no	no	NA
BPNT1	HGNC:1096	MGI:1338800	-	-	no	no	no	no	NA
BPNT2	HGNC:26019	MGI:1915720	OMIM:614078|ORPHA:280586	Chondrodysplasia With Joint Dislocations, Gpapp Type	yes	yes	yes	no	NA
BPTF	HGNC:3581	MGI:2444008	OMIM:617755|ORPHA:528084|ORPHA:529962	Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies|Non-Specific Syndromic Intellectual Disability|17Q24.2 Microdeletion Syndrome	yes	yes	yes	yes	22.64
BRAF	HGNC:1097	MGI:88190	OMIM:211980|OMIM:115150|OMIM:114500|OMIM:613707|OMIM:155600|OMIM:613706|ORPHA:146|ORPHA:500|ORPHA:1340|ORPHA:251615|ORPHA:389|ORPHA:411533|ORPHA:840|ORPHA:58017|ORPHA:54595|ORPHA:96253	Lung Cancer|Cardiofaciocutaneous Syndrome 1|Colorectal Cancer|Leopard Syndrome 3|Melanoma, Cutaneous Malignant, Susceptibility To, 1|Noonan Syndrome 7|Differentiated Thyroid Carcinoma|Noonan Syndrome With Multiple Lentigines|Cardiofaciocutaneous Syndrome|Pilomyxoid Astrocytoma|Langerhans Cell Histiocytosis|Non Rare In Europe: Melanoma|Syringocystadenoma Papilliferum|Classic Hairy Cell Leukemia|Craniopharyngioma|Cushing Disease	no	no	no	no	NA
BRAP	HGNC:1099	MGI:1919649	-	-	yes	no	no	no	NA
BRAT1	HGNC:21701	MGI:1891679	OMIM:618056|OMIM:614498|ORPHA:435845	Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures|Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal|Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome	yes	yes	yes	no	NA
BRCA1	HGNC:1100	MGI:104537	OMIM:617883|OMIM:604370|OMIM:614320|ORPHA:168829|ORPHA:84|ORPHA:1331|ORPHA:145|ORPHA:227535|ORPHA:1333|ORPHA:70567	Fanconi Anemia, Complementation Group S|Breast-Ovarian Cancer, Familial, Susceptibility To, 1|Pancreatic Cancer, Susceptibility To, 4|Primary Peritoneal Carcinoma|Fanconi Anemia|Familial Prostate Cancer|Hereditary Breast And/Or Ovarian Cancer Syndrome|Hereditary Breast Cancer|Familial Pancreatic Carcinoma|Cholangiocarcinoma	no	no	no	no	NA
BRCA2	HGNC:1101	MGI:109337	OMIM:114480|OMIM:605724|OMIM:155255|OMIM:176807|OMIM:194070|OMIM:612555|OMIM:613029|OMIM:613347|ORPHA:84|ORPHA:654|ORPHA:1331|ORPHA:145|ORPHA:227535|ORPHA:1333|ORPHA:319462|ORPHA:178|ORPHA:70567	Breast Cancer|Fanconi Anemia, Complementation Group D1|Medulloblastoma|Prostate Cancer|Wilms Tumor 1|Breast-Ovarian Cancer, Familial, Susceptibility To, 2|Glioma Susceptibility 3|Pancreatic Cancer, Susceptibility To, 2|Fanconi Anemia|Nephroblastoma|Familial Prostate Cancer|Hereditary Breast And/Or Ovarian Cancer Syndrome|Hereditary Breast Cancer|Familial Pancreatic Carcinoma|Inherited Cancer-Predisposing Syndrome Due To Biallelic Brca2 Mutations|Chordoma|Cholangiocarcinoma	no	no	no	no	NA
BRCC3	HGNC:24185	MGI:2389572	ORPHA:280679	Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	yes	yes	yes	no	NA
BRD1	HGNC:1102	MGI:1924161	-	-	no	no	no	no	NA
BRD10	HGNC:23378	MGI:2444398	-	-	no	no	no	no	NA
BRD2	HGNC:1103	MGI:99495	-	-	yes	no	no	no	NA
BRD3	HGNC:1104	MGI:1914632	-	-	yes	no	no	no	NA
BRD4	HGNC:13575	MGI:1888520	ORPHA:199|ORPHA:443167	Cornelia De Lange Syndrome|Nut Midline Carcinoma	yes	yes	yes	yes	31.085
BRD7	HGNC:14310	MGI:1349766	-	-	yes	no	no	no	NA
BRD8	HGNC:19874	MGI:1925906	-	-	yes	no	no	no	NA
BRD9	HGNC:25818	MGI:2145317	-	-	yes	no	no	no	NA
BRDT	HGNC:1105	MGI:1891374	OMIM:617644	Spermatogenic Failure 21	yes	yes	yes	no	NA
BRF1	HGNC:11551	MGI:1919558	OMIM:616202|ORPHA:444072	Cerebellofaciodental Syndrome|Cerebellar-Facial-Dental Syndrome	no	no	no	no	NA
BRF2	HGNC:17298	MGI:1913903	-	-	no	no	no	no	NA
BRI3	HGNC:1109	MGI:1933174	-	-	yes	no	no	no	NA
BRI3BP	HGNC:14251	MGI:1924059	-	-	no	no	no	no	NA
BRICD5	HGNC:28309	MGI:2441766	-	-	yes	no	no	no	NA
BRINP1	HGNC:2687	MGI:1928478	-	-	no	no	no	no	NA
BRINP2	HGNC:13746	MGI:2443333	-	-	no	no	no	no	NA
BRINP3	HGNC:22393	MGI:2443035	-	-	yes	no	no	no	NA
BRIP1	HGNC:20473	MGI:2442836	OMIM:114480|OMIM:609054|ORPHA:84|ORPHA:145	Breast Cancer|Fanconi Anemia, Complementation Group J|Fanconi Anemia|Hereditary Breast And/Or Ovarian Cancer Syndrome	yes	yes	yes	yes	40.83
BRIX1	HGNC:24170	MGI:1915082	-	-	yes	no	no	no	NA
BRK1	HGNC:23057	MGI:1915406	-	-	no	no	no	no	NA
BRME1	HGNC:28153	MGI:1921916	-	-	yes	no	no	no	NA
BRMS1	HGNC:17262	MGI:2388804	-	-	yes	no	no	no	NA
BRMS1L	HGNC:20512	MGI:1196337	-	-	yes	no	no	no	NA
BROX	HGNC:26512	MGI:1918928	-	-	no	no	no	no	NA
BRPF1	HGNC:14255	MGI:1926033	OMIM:617333	Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	yes	yes	yes	yes	22.04
BRPF3	HGNC:14256	MGI:2146836	-	-	yes	no	no	no	NA
BRS3	HGNC:1113	MGI:1100501	-	-	no	no	no	no	NA
BRSK1	HGNC:18994	MGI:2685946	-	-	no	no	no	no	NA
BRSK2	HGNC:11405	MGI:1923020	ORPHA:178469	Autosomal Dominant Non-Syndromic Intellectual Disability	no	no	no	no	NA
BRWD1	HGNC:12760	MGI:1890651	OMIM:620438	Ciliary Dyskinesia, Primary, 51	yes	yes	yes	no	NA
BRWD3	HGNC:17342	MGI:3029414	OMIM:300659|ORPHA:323|ORPHA:528084	Intellectual Developmental Disorder, X-Linked 93|Non Rare In Europe: Fg Syndrome Phenotypic Spectrum|Non-Specific Syndromic Intellectual Disability	no	no	no	no	NA
BSCL2	HGNC:15832	MGI:1298392	OMIM:615924|OMIM:269700|OMIM:619112|OMIM:270685|ORPHA:528|ORPHA:139536|ORPHA:363400|ORPHA:100998	Encephalopathy, Progressive, With Or Without Lipodystrophy|Lipodystrophy, Congenital Generalized, Type 2|Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13|Spastic Paraplegia 17, Autosomal Dominant|Congenital Generalized Lipodystrophy|Distal Hereditary Motor Neuropathy Type 5|Severe Neurodegenerative Syndrome With Lipodystrophy|Autosomal Dominant Spastic Paraplegia Type 17	yes	yes	yes	yes	59.22
BSDC1	HGNC:25501	MGI:1913466	-	-	yes	no	no	no	NA
BSG	HGNC:1116	MGI:88208	OMIM:111380	Blood Group--Ok	no	no	no	no	NA
BSN	HGNC:1117	MGI:1277955	-	-	no	no	no	no	NA
BSND	HGNC:16512	MGI:2153465	OMIM:602522|ORPHA:89938|ORPHA:90636	Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness|Bartter Syndrome Type 4|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	no	no	no	no	NA
BSPH1	HGNC:33906	MGI:2685613	-	-	no	no	no	no	NA
BSPRY	HGNC:18232	MGI:2177191	-	-	yes	no	no	no	NA
BST1	HGNC:1118	MGI:105370	-	-	no	no	no	no	NA
BST2	HGNC:1119	MGI:1916800	-	-	yes	no	no	no	NA
BSX	HGNC:20450	MGI:2669849	-	-	no	no	no	no	NA
BTAF1	HGNC:17307	MGI:2147538	-	-	no	no	no	no	NA
BTBD1	HGNC:1120	MGI:1933765	-	-	yes	no	no	no	NA
BTBD10	HGNC:21445	MGI:1916065	-	-	yes	no	no	no	NA
BTBD16	HGNC:26340	MGI:3045247	-	-	yes	no	no	no	NA
BTBD17	HGNC:33758	MGI:1919264	-	-	yes	no	no	no	NA
BTBD18	HGNC:37214	MGI:3650217	-	-	yes	no	no	no	NA
BTBD19	HGNC:27145	MGI:1925861	-	-	no	no	no	no	NA
BTBD2	HGNC:15504	MGI:1933831	-	-	yes	no	no	no	NA
BTBD3	HGNC:15854	MGI:2385155	-	-	yes	no	no	no	NA
BTBD6	HGNC:19897	MGI:3026623	-	-	no	no	no	no	NA
BTBD7	HGNC:18269	MGI:1917858	-	-	yes	no	no	no	NA
BTBD8	HGNC:21019	MGI:3646208	-	-	yes	no	no	no	NA
BTBD9	HGNC:21228	MGI:1916625	-	-	yes	no	no	no	NA
BTC	HGNC:1121	MGI:99439	-	-	yes	no	no	no	NA
BTD	HGNC:1122	MGI:1347001	OMIM:253260|ORPHA:79241	Biotinidase Deficiency	no	no	no	no	NA
BTF3	HGNC:1125	MGI:1202875	-	-	yes	no	no	no	NA
BTF3L4	HGNC:30547	MGI:1915312	-	-	no	no	no	no	NA
BTG1	HGNC:1130	MGI:88215	-	-	yes	no	no	no	NA
BTG2	HGNC:1131	MGI:108384	-	-	yes	no	no	no	NA
BTG3	HGNC:1132	MGI:109532	-	-	no	no	no	no	NA
BTG4	HGNC:13862	MGI:1860140	OMIM:619009	Oocyte/Zygote/Embryo Maturation Arrest 8	no	no	no	no	NA
BTK	HGNC:1133	MGI:88216	OMIM:300755|OMIM:307200|ORPHA:47|ORPHA:632	Agammaglobulinemia, X-Linked|Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia|X-Linked Agammaglobulinemia|Short Stature Due To Isolated Growth Hormone Deficiency With X-Linked Hypogammaglobulinemia	yes	yes	yes	yes	41.65
BTLA	HGNC:21087	MGI:2658978	-	-	no	no	no	no	NA
BTN1A1	HGNC:1135	MGI:103118	-	-	no	no	no	no	NA
BTNL2	HGNC:1142	MGI:1859549	OMIM:612387|ORPHA:797	Sarcoidosis, Susceptibility To, 2|Sarcoidosis	yes	no	yes	no	NA
BTNL9	HGNC:24176	MGI:2442439	-	-	no	no	no	no	NA
BTRC	HGNC:1144	MGI:1338871	ORPHA:2440	Isolated Split Hand-Split Foot Malformation	yes	yes	yes	no	NA
BUB1	HGNC:1148	MGI:1100510	OMIM:114500|OMIM:620183|ORPHA:1052	Colorectal Cancer|Microcephaly 30, Primary, Autosomal Recessive|Mosaic Variegated Aneuploidy Syndrome	yes	yes	yes	no	NA
BUB1B	HGNC:1149	MGI:1333889	OMIM:114500|OMIM:257300|OMIM:176430|ORPHA:1052	Colorectal Cancer|Mosaic Variegated Aneuploidy Syndrome 1|Premature Chromatid Separation Trait|Mosaic Variegated Aneuploidy Syndrome	no	no	no	no	NA
BUB3	HGNC:1151	MGI:1343463	ORPHA:1052	Mosaic Variegated Aneuploidy Syndrome	no	no	no	no	NA
BUD13	HGNC:28199	MGI:2443443	-	-	no	no	no	no	NA
BUD23	HGNC:16405	MGI:1913388	ORPHA:904	Williams Syndrome	yes	yes	yes	yes	22.385
BUD31	HGNC:29629	MGI:2141291	-	-	no	no	no	no	NA
BVES	HGNC:1152	MGI:1346013	OMIM:616812|ORPHA:476084	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25|Bves-Related Limb-Girdle Muscular Dystrophy	yes	yes	yes	yes	25.46
BYSL	HGNC:1157	MGI:1858419	-	-	yes	no	no	no	NA
BZW1	HGNC:18380	MGI:1914132	-	-	yes	no	no	no	NA
BZW2	HGNC:18808	MGI:1914162	-	-	yes	no	no	no	NA
C10orf105	HGNC:20304	MGI:4937089	-	-	no	no	no	no	NA
C10orf120	HGNC:25707	MGI:1914681	-	-	yes	no	no	no	NA
C10orf143	HGNC:48677	MGI:1924502	-	-	no	no	no	no	NA
C10orf53	HGNC:27421	MGI:1914335	-	-	no	no	no	no	NA
C10orf62	HGNC:23294	MGI:1914015	-	-	yes	no	no	no	NA
C10orf67	HGNC:28716	MGI:1918087	-	-	no	no	no	no	NA
C10orf71	HGNC:26973	MGI:3588196	-	-	yes	no	no	no	NA
C10orf88	HGNC:25822	MGI:1915527	-	-	no	no	no	no	NA
C10orf90	HGNC:26563	MGI:1196431	-	-	yes	no	no	no	NA
C11orf16	HGNC:1169	MGI:1928824	-	-	no	no	no	no	NA
C11orf24	HGNC:1174	MGI:1919306	-	-	yes	no	no	no	NA
C11orf42	HGNC:28541	MGI:3643909	-	-	no	no	no	no	NA
C11orf52	HGNC:30531	MGI:1914202	-	-	no	no	no	no	NA
C11orf54	HGNC:30204	MGI:1918234	-	-	yes	no	no	no	NA
C11orf58	HGNC:16990	MGI:1929274	-	-	no	no	no	no	NA
C11orf65	HGNC:28519	MGI:1922561	-	-	no	no	no	no	NA
C11orf68	HGNC:28801	MGI:2147598	-	-	yes	no	no	no	NA
C11orf71	HGNC:25937	MGI:3643566	-	-	no	no	no	no	NA
C11orf86	HGNC:34442	MGI:1917111	-	-	no	no	no	no	NA
C11orf87	HGNC:33788	MGI:2143099	-	-	no	no	no	no	NA
C11orf91	HGNC:34444	MGI:1915493	-	-	no	no	no	no	NA
C11orf96	HGNC:38675	MGI:3652053	-	-	no	no	no	no	NA
C11orf97	HGNC:49544	MGI:1916575	-	-	yes	no	no	no	NA
C11orf98	HGNC:51238	MGI:1913526	-	-	no	no	no	no	NA
C12orf42	HGNC:24729	MGI:1923890	-	-	no	no	no	no	NA
C12orf43	HGNC:25719	MGI:1919607	-	-	no	no	no	no	NA
C12orf50	HGNC:26665	MGI:1913855	-	-	no	no	no	no	NA
C12orf56	HGNC:26967	MGI:2442001	-	-	yes	no	no	no	NA
C12orf57	HGNC:29521	MGI:1315201	OMIM:218340|ORPHA:1777	Temtamy Syndrome	yes	yes	yes	no	NA
C12orf60	HGNC:28726	MGI:3605234	-	-	yes	no	no	no	NA
C12orf71	HGNC:34452	MGI:1920594	-	-	yes	no	no	no	NA
C12orf75	HGNC:35164	MGI:1917034	-	-	yes	no	no	no	NA
C13orf42	HGNC:42693	MGI:3782307	-	-	no	no	no	no	NA
C13orf46	HGNC:53786	MGI:1913751	-	-	yes	no	no	no	NA
C14orf119	HGNC:20270	MGI:1920893	-	-	yes	no	no	no	NA
C14orf132	HGNC:20346	MGI:2443127	-	-	no	no	no	no	NA
C14orf180	HGNC:33795	MGI:2443020	-	-	no	no	no	no	NA
C14orf28	HGNC:19834	MGI:2685373	-	-	no	no	no	no	NA
C14orf39	HGNC:19849	MGI:1923051	OMIM:619203|OMIM:619202|ORPHA:399805	Premature Ovarian Failure 18|Spermatogenic Failure 52|Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	yes	yes	yes	yes	69.115
C14orf93	HGNC:20162	MGI:1921609	-	-	no	no	no	no	NA
C15orf39	HGNC:24497	MGI:1921461	-	-	no	no	no	no	NA
C15orf40	HGNC:28443	MGI:1914540	-	-	no	no	no	no	NA
C15orf48	HGNC:29898	MGI:3034182	-	-	no	no	no	no	NA
C15orf61	HGNC:34453	MGI:1916728	-	-	no	no	no	no	NA
C15orf62	HGNC:34489	MGI:3651144	-	-	no	no	no	no	NA
C16orf46	HGNC:26525	MGI:1916778	-	-	yes	no	no	no	NA
C16orf54	HGNC:26649	MGI:2141979	-	-	yes	no	no	no	NA
C16orf74	HGNC:23362	MGI:1916168	-	-	no	no	no	no	NA
C16orf78	HGNC:28479	MGI:3607717	-	-	yes	no	no	no	NA
C16orf86	HGNC:33755	MGI:1918296	-	-	yes	no	no	no	NA
C16orf87	HGNC:33754	MGI:1913964	-	-	no	no	no	no	NA
C16orf89	HGNC:28687	MGI:2146559	-	-	yes	no	no	no	NA
C16orf90	HGNC:34455	MGI:1920511	-	-	yes	no	no	no	NA
C16orf92	HGNC:26346	MGI:1925368	-	-	yes	no	no	no	NA
C16orf95	HGNC:40033	MGI:1923655	-	-	no	no	no	no	NA
C16orf96	HGNC:40031	MGI:1926059	-	-	no	no	no	no	NA
C17orf100	HGNC:34494	MGI:1922554	-	-	yes	no	no	no	NA
C17orf107	HGNC:37238	MGI:2148639	-	-	no	no	no	no	NA
C17orf49	HGNC:28737	MGI:1915609	-	-	yes	no	no	no	NA
C17orf50	HGNC:29581	MGI:1913580	-	-	no	no	no	no	NA
C17orf58	HGNC:27568	MGI:1916316	-	-	no	no	no	no	NA
C17orf67	HGNC:27900	MGI:2685371	-	-	no	no	no	no	NA
C17orf75	HGNC:30173	MGI:1917841	-	-	no	no	no	no	NA
C17orf78	HGNC:26831	MGI:3650287	-	-	no	no	no	no	NA
C17orf99	HGNC:34490	MGI:1924977	-	-	no	no	no	no	NA
C18orf21	HGNC:28802	MGI:1915296	-	-	no	no	no	no	NA
C18orf32	HGNC:31690	MGI:3039614	OMIM:619985	Glycosylphosphatidylinositol Biosynthesis Defect 25	yes	yes	yes	no	NA
C18orf54	HGNC:13796	MGI:1922045	-	-	no	no	no	no	NA
C18orf63	HGNC:40037	MGI:4936900	-	-	no	no	no	no	NA
C19orf12	HGNC:25443	MGI:1919494	OMIM:615043|OMIM:614298|ORPHA:320370|ORPHA:289560	Spastic Paraplegia 43, Autosomal Recessive|Neurodegeneration With Brain Iron Accumulation 4|Autosomal Recessive Spastic Paraplegia Type 43|Mitochondrial Membrane Protein-Associated Neurodegeneration	yes	no	yes	no	NA
C19orf18	HGNC:28642	MGI:1920340	-	-	no	no	no	no	NA
C19orf25	HGNC:26711	MGI:1913624	-	-	no	no	no	no	NA
C19orf33	HGNC:16668	MGI:1919525	-	-	no	no	no	no	NA
C19orf38	HGNC:34073	MGI:3043001	-	-	yes	no	no	no	NA
C19orf44	HGNC:26141	MGI:1919504	-	-	yes	no	no	no	NA
C19orf47	HGNC:26723	MGI:1913617	-	-	no	no	no	no	NA
C19orf53	HGNC:24991	MGI:1289231	-	-	no	no	no	no	NA
C19orf67	HGNC:34354	MGI:1920703	-	-	yes	no	no	no	NA
C19orf81	HGNC:40041	MGI:1916599	-	-	yes	no	no	no	NA
C1D	HGNC:29911	MGI:1927354	-	-	yes	no	no	no	NA
C1GALT1	HGNC:24337	MGI:2151071	-	-	yes	no	no	no	NA
C1GALT1C1	HGNC:24338	MGI:1913493	OMIM:301110|OMIM:300622	Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature|Tn Polyagglutination Syndrome	no	no	no	no	NA
C1QA	HGNC:1241	MGI:88223	OMIM:613652|ORPHA:169147|ORPHA:300345	C1Q Deficiency 1|Immunodeficiency Due To A Classical Component Pathway Complement Deficiency|Autosomal Systemic Lupus Erythematosus	yes	yes	yes	no	NA
C1QB	HGNC:1242	MGI:88224	OMIM:620321|ORPHA:169147	C1Q Deficiency 2|Immunodeficiency Due To A Classical Component Pathway Complement Deficiency	yes	no	yes	no	NA
C1QBP	HGNC:1243	MGI:1194505	OMIM:617713	Combined Oxidative Phosphorylation Deficiency 33	yes	yes	yes	no	NA
C1QC	HGNC:1245	MGI:88225	OMIM:620322|ORPHA:169147	C1Q Deficiency 3|Immunodeficiency Due To A Classical Component Pathway Complement Deficiency	yes	yes	yes	no	NA
C1QL1	HGNC:24182	MGI:1344400	-	-	no	no	no	no	NA
C1QL2	HGNC:24181	MGI:3032521	-	-	yes	no	no	no	NA
C1QL3	HGNC:19359	MGI:2387350	-	-	yes	no	no	no	NA
C1QL4	HGNC:31416	MGI:3579909	-	-	no	no	no	no	NA
C1QTNF1	HGNC:14324	MGI:1919254	-	-	yes	no	no	no	NA
C1QTNF12	HGNC:32308	MGI:1914639	-	-	yes	no	no	no	NA
C1QTNF2	HGNC:14325	MGI:1916433	-	-	yes	no	no	no	NA
C1QTNF3	HGNC:14326	MGI:1932136	-	-	yes	no	no	no	NA
C1QTNF4	HGNC:14346	MGI:1914695	-	-	no	no	no	no	NA
C1QTNF5	HGNC:14344	MGI:2385958	OMIM:605670|ORPHA:67042	Late-Onset Retinal Degeneration	yes	yes	yes	yes	67.14
C1QTNF6	HGNC:14343	MGI:1919959	-	-	no	no	no	no	NA
C1QTNF7	HGNC:14342	MGI:1925911	-	-	yes	no	no	no	NA
C1RL	HGNC:21265	MGI:2660692	-	-	yes	no	no	no	NA
C1orf105	HGNC:29591	MGI:1922618	-	-	yes	no	no	no	NA
C1orf115	HGNC:25873	MGI:2444831	-	-	no	no	no	no	NA
C1orf116	HGNC:28667	MGI:2138143	-	-	yes	no	no	no	NA
C1orf122	HGNC:24789	MGI:1916170	-	-	no	no	no	no	NA
C1orf127	HGNC:26730	MGI:2685418	-	-	yes	no	no	no	NA
C1orf131	HGNC:25332	MGI:1913773	-	-	no	no	no	no	NA
C1orf141	HGNC:32044	MGI:1918191	-	-	no	no	no	no	NA
C1orf146	HGNC:24032	MGI:1923671	-	-	no	no	no	no	NA
C1orf159	HGNC:26062	MGI:2444364	-	-	no	no	no	no	NA
C1orf162	HGNC:28344	MGI:3588284	-	-	no	no	no	no	NA
C1orf174	HGNC:27915	MGI:2140680	-	-	yes	no	no	no	NA
C1orf185	HGNC:28096	MGI:1914896	-	-	no	no	no	no	NA
C1orf198	HGNC:25900	MGI:1916801	-	-	yes	no	no	no	NA
C1orf21	HGNC:15494	MGI:1916649	-	-	yes	no	no	no	NA
C1orf210	HGNC:28755	MGI:1913701	-	-	no	no	no	no	NA
C1orf216	HGNC:26800	MGI:3609248	-	-	no	no	no	no	NA
C1orf226	HGNC:34351	MGI:3649135	-	-	yes	no	no	no	NA
C1orf232	HGNC:53426	MGI:5589350	-	-	no	no	no	no	NA
C1orf35	HGNC:19032	MGI:1915112	-	-	no	no	no	no	NA
C1orf43	HGNC:29876	MGI:1914027	-	-	yes	no	no	no	NA
C1orf50	HGNC:28795	MGI:2140466	-	-	no	no	no	no	NA
C1orf52	HGNC:24871	MGI:1913671	-	-	no	no	no	no	NA
C1orf53	HGNC:30003	MGI:1916799	-	-	no	no	no	no	NA
C1orf54	HGNC:26258	MGI:2385885	-	-	no	no	no	no	NA
C1orf56	HGNC:26045	MGI:2684974	-	-	no	no	no	no	NA
C1orf74	HGNC:26319	MGI:2441776	-	-	no	no	no	no	NA
C1orf87	HGNC:28547	MGI:3650206	-	-	yes	no	no	no	NA
C1orf94	HGNC:28250	MGI:3616080	-	-	no	no	no	no	NA
C2	HGNC:1248	MGI:88226	OMIM:217000|OMIM:615489|ORPHA:169147	Complement Component 2 Deficiency|Macular Degeneration, Age-Related, 14|Immunodeficiency Due To A Classical Component Pathway Complement Deficiency	no	no	no	no	NA
C20orf141	HGNC:16134	MGI:1922906	-	-	no	no	no	no	NA
C20orf144	HGNC:16137	MGI:1922730	-	-	yes	no	no	no	NA
C20orf173	HGNC:16166	MGI:2443361	-	-	no	no	no	no	NA
C20orf96	HGNC:16227	MGI:3045333	-	-	no	no	no	no	NA
C21orf140	HGNC:39602	MGI:1922578	-	-	no	no	no	no	NA
C21orf58	HGNC:1300	MGI:1924214	-	-	yes	no	no	no	NA
C21orf91	HGNC:16459	MGI:1196400	-	-	yes	no	no	no	NA
C22orf15	HGNC:15558	MGI:2685713	-	-	no	no	no	no	NA
C22orf23	HGNC:18589	MGI:1920774	-	-	yes	no	no	no	NA
C22orf39	HGNC:27012	MGI:1919557	-	-	yes	no	no	no	NA
C2CD2	HGNC:1266	MGI:1891883	-	-	yes	no	no	no	NA
C2CD2L	HGNC:29000	MGI:1919014	-	-	yes	no	no	no	NA
C2CD3	HGNC:24564	MGI:2142166	OMIM:615948|ORPHA:434179	Orofaciodigital Syndrome Xiv|Orofaciodigital Syndrome Type 14	yes	yes	yes	yes	16.1
C2CD4C	HGNC:29417	MGI:2685084	-	-	no	no	no	no	NA
C2CD4D	HGNC:37210	MGI:2685505	-	-	no	no	no	no	NA
C2CD5	HGNC:29062	MGI:1921991	-	-	no	no	no	no	NA
C2CD6	HGNC:14438	MGI:1920713	OMIM:619805|ORPHA:171709	Spermatogenic Failure 68|Male Infertility Due To Globozoospermia	no	no	no	no	NA
C2orf42	HGNC:26056	MGI:2141787	-	-	no	no	no	no	NA
C2orf49	HGNC:28772	MGI:2138299	-	-	no	no	no	no	NA
C2orf50	HGNC:26324	MGI:1920917	-	-	yes	no	no	no	NA
C2orf66	HGNC:33809	MGI:5593225	-	-	no	no	no	no	NA
C2orf68	HGNC:34353	MGI:1915614	-	-	no	no	no	no	NA
C2orf69	HGNC:26799	MGI:1920717	OMIM:619423	Combined Oxidative Phosphorylation Deficiency 53	no	no	no	no	NA
C2orf72	HGNC:27418	MGI:1920042	-	-	no	no	no	no	NA
C2orf73	HGNC:26861	MGI:1922337	-	-	yes	no	no	no	NA
C2orf74	HGNC:34439	MGI:1914608	-	-	yes	no	no	no	NA
C2orf76	HGNC:27017	MGI:1920353	-	-	no	no	no	no	NA
C2orf80	HGNC:34352	MGI:2138198	-	-	yes	no	no	no	NA
C2orf81	HGNC:34350	MGI:1919087	-	-	no	no	no	no	NA
C2orf88	HGNC:28191	MGI:1914330	-	-	yes	no	no	no	NA
C3	HGNC:1318	MGI:88227	OMIM:613779|OMIM:612925|OMIM:611378|ORPHA:280133|ORPHA:279|ORPHA:544472	Complement Component 3 Deficiency, Autosomal Recessive|Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5|Macular Degeneration, Age-Related, 9|Complement Component 3 Deficiency|Non Rare In Europe: Age-Related Macular Degeneration|Atypical Hemolytic Uremic Syndrome With Complement Gene Abnormality	yes	no	yes	no	NA
C3AR1	HGNC:1319	MGI:1097680	-	-	yes	no	no	no	NA
C3orf18	HGNC:24837	MGI:2445137	-	-	no	no	no	no	NA
C3orf20	HGNC:25320	MGI:2685917	-	-	yes	no	no	no	NA
C3orf22	HGNC:28534	MGI:2679261	-	-	no	no	no	no	NA
C3orf33	HGNC:26434	MGI:3607716	-	-	yes	no	no	no	NA
C3orf38	HGNC:28384	MGI:1914859	-	-	no	no	no	no	NA
C3orf49	HGNC:25190	MGI:3779338	-	-	no	no	no	no	NA
C3orf52	HGNC:26255	MGI:2384848	OMIM:620177	Hypotrichosis 15	no	no	no	no	NA
C3orf62	HGNC:24771	MGI:2148248	-	-	no	no	no	no	NA
C3orf70	HGNC:33731	MGI:1919440	-	-	yes	no	no	no	NA
C3orf80	HGNC:40048	MGI:1915975	-	-	no	no	no	no	NA
C3orf84	HGNC:44666	MGI:3618861	-	-	yes	no	no	no	NA
C4BPA	HGNC:1325	MGI:88229	-	-	yes	no	no	no	NA
C4orf17	HGNC:25274	MGI:1914991	-	-	yes	no	no	no	NA
C4orf19	HGNC:25618	MGI:1923511	-	-	yes	no	no	no	NA
C4orf3	HGNC:19225	MGI:1914954	-	-	no	no	no	no	NA
C4orf33	HGNC:27025	MGI:1289213	-	-	no	no	no	no	NA
C4orf36	HGNC:28386	MGI:1921468	-	-	yes	no	no	no	NA
C4orf46	HGNC:27320	MGI:1923189	-	-	no	no	no	no	NA
C4orf50	HGNC:33766	MGI:2685889	-	-	yes	no	no	no	NA
C4orf51	HGNC:37264	MGI:1914937	-	-	no	no	no	no	NA
C4orf54	HGNC:27741	MGI:1915066	-	-	no	no	no	no	NA
C5	HGNC:1331	MGI:96031	OMIM:609536|OMIM:615749|ORPHA:169150	Complement Component 5 Deficiency|Eculizumab, Poor Response To|Immunodeficiency Due To A Late Component Of Complement Deficiency	yes	yes	yes	no	NA
C5AR1	HGNC:1338	MGI:88232	-	-	no	no	no	no	NA
C5AR2	HGNC:4527	MGI:2442013	-	-	yes	no	no	no	NA
C5orf15	HGNC:20656	MGI:2654705	-	-	no	no	no	no	NA
C5orf22	HGNC:25639	MGI:1925127	-	-	no	no	no	no	NA
C5orf24	HGNC:26746	MGI:1925771	-	-	no	no	no	no	NA
C5orf34	HGNC:24738	MGI:1914642	-	-	yes	no	no	no	NA
C5orf46	HGNC:33768	MGI:2684940	-	-	yes	no	no	no	NA
C5orf47	HGNC:27026	MGI:1914842	-	-	yes	no	no	no	NA
C5orf52	HGNC:35121	MGI:1914680	-	-	yes	no	no	no	NA
C5orf63	HGNC:40051	MGI:1924672	-	-	no	no	no	no	NA
C6	HGNC:1339	MGI:88233	OMIM:612446|ORPHA:169150	Complement Component 6 Deficiency|Immunodeficiency Due To A Late Component Of Complement Deficiency	no	no	no	no	NA
C6orf118	HGNC:21233	MGI:1914181	-	-	yes	no	no	no	NA
C6orf120	HGNC:21247	MGI:1915162	-	-	no	no	no	no	NA
C6orf132	HGNC:21288	MGI:2146908	-	-	no	no	no	no	NA
C6orf136	HGNC:21301	MGI:1916912	-	-	yes	no	no	no	NA
C6orf141	HGNC:21351	MGI:1918833	-	-	no	no	no	no	NA
C6orf15	HGNC:13927	MGI:1916792	-	-	no	no	no	no	NA
C6orf163	HGNC:21403	MGI:2684982	-	-	no	no	no	no	NA
C6orf226	HGNC:34431	MGI:1914351	-	-	yes	no	no	no	NA
C6orf47	HGNC:19076	MGI:90673	-	-	no	no	no	no	NA
C6orf58	HGNC:20960	MGI:1914969	-	-	yes	no	no	no	NA
C6orf62	HGNC:20998	MGI:2441726	-	-	no	no	no	no	NA
C6orf89	HGNC:21114	MGI:2136782	-	-	no	no	no	no	NA
C7	HGNC:1346	MGI:88235	OMIM:610102|ORPHA:169150	Complement Component 7 Deficiency|Immunodeficiency Due To A Late Component Of Complement Deficiency	yes	yes	yes	no	NA
C7orf25	HGNC:21703	MGI:2145422	-	-	no	no	no	no	NA
C7orf50	HGNC:22421	MGI:1920462	-	-	yes	no	no	no	NA
C7orf57	HGNC:22247	MGI:3651127	-	-	no	no	no	no	NA
C8A	HGNC:1352	MGI:2668347	OMIM:613790|ORPHA:169150	Complement Component 8 Deficiency, Type I|Immunodeficiency Due To A Late Component Of Complement Deficiency	yes	yes	yes	no	NA
C8B	HGNC:1353	MGI:88236	OMIM:613789|ORPHA:169150	Complement Component 8 Deficiency, Type Ii|Immunodeficiency Due To A Late Component Of Complement Deficiency	yes	yes	yes	no	NA
C8G	HGNC:1354	MGI:88237	ORPHA:169150	Immunodeficiency Due To A Late Component Of Complement Deficiency	yes	no	no	no	NA
C8orf33	HGNC:26104	MGI:2152337	-	-	no	no	no	no	NA
C8orf34	HGNC:30905	MGI:2444149	-	-	no	no	no	no	NA
C8orf48	HGNC:26345	MGI:2142538	-	-	no	no	no	no	NA
C8orf58	HGNC:32233	MGI:2145726	-	-	yes	no	no	no	NA
C8orf74	HGNC:32296	MGI:1915000	-	-	no	no	no	no	NA
C8orf76	HGNC:25924	MGI:1923008	-	-	no	no	no	no	NA
C8orf82	HGNC:33826	MGI:1925941	-	-	no	no	no	no	NA
C8orf89	HGNC:51258	MGI:1923049	-	-	no	no	no	no	NA
C9	HGNC:1358	MGI:1098282	OMIM:613825|OMIM:615591|ORPHA:169150|ORPHA:279	Complement Component 9 Deficiency|Macular Degeneration, Age-Related, 15|Immunodeficiency Due To A Late Component Of Complement Deficiency|Non Rare In Europe: Age-Related Macular Degeneration	yes	yes	yes	no	NA
C9orf152	HGNC:31455	MGI:2442889	-	-	no	no	no	no	NA
C9orf153	HGNC:31456	MGI:1918150	-	-	no	no	no	no	NA
C9orf40	HGNC:23433	MGI:3583960	-	-	no	no	no	no	NA
C9orf43	HGNC:23570	MGI:3045314	-	-	yes	no	no	no	NA
C9orf50	HGNC:23677	MGI:1923631	-	-	yes	no	no	no	NA
C9orf72	HGNC:28337	MGI:1920455	OMIM:105550|ORPHA:803|ORPHA:275872|ORPHA:275864|ORPHA:401901|ORPHA:100069|ORPHA:100070	Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1|Amyotrophic Lateral Sclerosis|Frontotemporal Dementia With Motor Neuron Disease|Behavioral Variant Of Frontotemporal Dementia|Huntington Disease-Like Syndrome Due To C9Orf72 Expansions|Semantic Dementia|Progressive Non-Fluent Aphasia	yes	yes	yes	yes	11.995
C9orf78	HGNC:24932	MGI:2385132	-	-	no	no	no	no	NA
C9orf85	HGNC:28784	MGI:1913456	-	-	no	no	no	no	NA
CA1	HGNC:1368	MGI:88268	-	-	no	no	no	no	NA
CA10	HGNC:1369	MGI:1919855	-	-	no	no	no	no	NA
CA11	HGNC:1370	MGI:1336193	-	-	no	no	no	no	NA
CA12	HGNC:1371	MGI:1923709	OMIM:143860|ORPHA:542657	Hyperchlorhidrosis, Isolated|Isolated Hyperchlorhidrosis	yes	no	yes	no	NA
CA13	HGNC:14914	MGI:1931322	-	-	yes	no	no	no	NA
CA14	HGNC:1372	MGI:1344341	-	-	yes	no	no	no	NA
CA2	HGNC:1373	MGI:88269	OMIM:259730|ORPHA:2785	Osteopetrosis, Autosomal Recessive 3|Osteopetrosis With Renal Tubular Acidosis	no	no	no	no	NA
CA3	HGNC:1374	MGI:88270	-	-	yes	no	no	no	NA
CA4	HGNC:1375	MGI:1096574	ORPHA:791	Retinitis Pigmentosa	yes	yes	yes	yes	42.28
CA5A	HGNC:1377	MGI:101946	OMIM:615751|ORPHA:401948	Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To|Hyperammonemic Encephalopathy Due To Carbonic Anhydrase Va Deficiency	no	no	no	no	NA
CA5B	HGNC:1378	MGI:1926249	-	-	yes	no	no	no	NA
CA6	HGNC:1380	MGI:1333786	-	-	yes	no	no	no	NA
CA7	HGNC:1381	MGI:103100	-	-	yes	no	no	no	NA
CA8	HGNC:1382	MGI:88253	OMIM:613227|ORPHA:1766	Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3|Dysequilibrium Syndrome	no	no	no	no	NA
CA9	HGNC:1383	MGI:2447188	-	-	no	no	no	no	NA
CAAP1	HGNC:25834	MGI:1915020	-	-	no	no	no	no	NA
CAB39	HGNC:20292	MGI:107438	-	-	no	no	no	no	NA
CAB39L	HGNC:20290	MGI:1914081	-	-	yes	no	no	no	NA
CABCOCO1	HGNC:28678	MGI:1920537	-	-	yes	no	no	no	NA
CABIN1	HGNC:24187	MGI:1298375	-	-	yes	no	no	no	NA
CABLES1	HGNC:25097	MGI:1927065	-	-	no	no	no	no	NA
CABLES2	HGNC:16143	MGI:2182335	-	-	no	no	no	no	NA
CABP1	HGNC:1384	MGI:1352750	-	-	yes	no	no	no	NA
CABP2	HGNC:1385	MGI:1352749	OMIM:614899|ORPHA:90636	Deafness, Autosomal Recessive 93|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	yes	yes	yes	yes	37.875
CABP4	HGNC:1386	MGI:1920910	OMIM:610427|ORPHA:215|ORPHA:98784	Cone-Rod Synaptic Disorder, Congenital Nonprogressive|Congenital Stationary Night Blindness|Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	yes	yes	yes	yes	36.62
CABP5	HGNC:13714	MGI:1352746	-	-	yes	no	no	no	NA
CABP7	HGNC:20834	MGI:2183437	-	-	no	no	no	no	NA
CABS1	HGNC:30710	MGI:1918227	-	-	no	no	no	no	NA
CABYR	HGNC:15569	MGI:1918382	-	-	no	no	no	no	NA
CACFD1	HGNC:1365	MGI:1924317	-	-	no	no	no	no	NA
CACHD1	HGNC:29314	MGI:2444177	-	-	yes	no	no	no	NA
CACNA1A	HGNC:1388	MGI:109482	OMIM:617106|OMIM:108500|OMIM:141500|OMIM:183086|ORPHA:97|ORPHA:2131|ORPHA:2382|ORPHA:569|ORPHA:442835|ORPHA:71518|ORPHA:98758	Developmental And Epileptic Encephalopathy 42|Episodic Ataxia, Type 2|Migraine, Familial Hemiplegic, 1|Spinocerebellar Ataxia 6|Familial Paroxysmal Ataxia|Alternating Hemiplegia Of Childhood|Lennox-Gastaut Syndrome|Familial Or Sporadic Hemiplegic Migraine|Non-Specific Early-Onset Epileptic Encephalopathy|Benign Paroxysmal Torticollis Of Infancy|Spinocerebellar Ataxia Type 6	yes	yes	yes	yes	41.14
CACNA1B	HGNC:1389	MGI:88296	OMIM:618497|ORPHA:442835	Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements|Non-Specific Early-Onset Epileptic Encephalopathy	yes	yes	yes	yes	46.18
CACNA1C	HGNC:1390	MGI:103013	OMIM:611875|OMIM:618447|OMIM:620029|OMIM:601005|ORPHA:130|ORPHA:528084|ORPHA:595109|ORPHA:595098|ORPHA:595105|ORPHA:101016	Brugada Syndrome 3|Long Qt Syndrome 8|Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures|Timothy Syndrome|Brugada Syndrome|Non-Specific Syndromic Intellectual Disability|Atypical Timothy Syndrome|Timothy Syndrome Type 1|Timothy Syndrome Type 2|Romano-Ward Syndrome	yes	yes	yes	yes	21.225
CACNA1D	HGNC:1391	MGI:88293	OMIM:615474|OMIM:614896|ORPHA:324321|ORPHA:369929|ORPHA:85142	Primary Aldosteronism, Seizures, And Neurologic Abnormalities|Sinoatrial Node Dysfunction And Deafness|Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome|Non Rare In Europe: Aldosterone-Producing Adenoma	no	no	no	no	NA
CACNA1E	HGNC:1392	MGI:106217	OMIM:618285	Developmental And Epileptic Encephalopathy 69	no	no	no	no	NA
CACNA1F	HGNC:1393	MGI:1859639	OMIM:300600|OMIM:300476|OMIM:300071|ORPHA:178333|ORPHA:215|ORPHA:1872	Aland Island Eye Disease|Cone-Rod Dystrophy, X-Linked, 3|Night Blindness, Congenital Stationary, Type 2A|Åland Islands Eye Disease|Congenital Stationary Night Blindness|Cone Rod Dystrophy	yes	yes	yes	yes	42.5
CACNA1G	HGNC:1394	MGI:1201678	OMIM:616795|OMIM:618087|ORPHA:458803	Spinocerebellar Ataxia 42|Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits|Spinocerebellar Ataxia Type 42	yes	yes	yes	yes	33.965
CACNA1H	HGNC:1395	MGI:1928842	OMIM:617027|OMIM:611942|ORPHA:64280|ORPHA:642671	Hyperaldosteronism, Familial, Type Iv|Epilepsy, Childhood Absence, Susceptibility To, 6|Childhood Absence Epilepsy|Familial Hyperaldosteronism Type Iv	no	no	no	no	NA
CACNA1I	HGNC:1396	MGI:2178051	OMIM:620114|ORPHA:178469	Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures|Autosomal Dominant Non-Syndromic Intellectual Disability	yes	yes	yes	yes	25.615
CACNA1S	HGNC:1397	MGI:88294	OMIM:620246|OMIM:170400|OMIM:601887|OMIM:188580|ORPHA:681|ORPHA:423|ORPHA:397755|ORPHA:79102	Congenital Myopathy 18|Hypokalemic Periodic Paralysis, Type 1|Malignant Hyperthermia, Susceptibility To, 5|Thyrotoxic Periodic Paralysis, Susceptibility To, 1|Hypokalemic Periodic Paralysis|Malignant Hyperthermia Of Anesthesia|Periodic Paralysis With Transient Compartment-Like Syndrome|Thyrotoxic Periodic Paralysis	yes	yes	yes	yes	35.91
CACNA2D1	HGNC:1399	MGI:88295	OMIM:620149|ORPHA:442835|ORPHA:130|ORPHA:51083	Developmental And Epileptic Encephalopathy 110|Non-Specific Early-Onset Epileptic Encephalopathy|Brugada Syndrome|Familial Short Qt Syndrome	yes	yes	yes	yes	36.33
CACNA2D2	HGNC:1400	MGI:1929813	OMIM:618501	Cerebellar Atrophy With Seizures And Variable Developmental Delay	yes	yes	yes	yes	47.11
CACNA2D3	HGNC:15460	MGI:1338890	-	-	yes	no	no	no	NA
CACNA2D4	HGNC:20202	MGI:2442632	OMIM:610478|ORPHA:215|ORPHA:1872	Retinal Cone Dystrophy 4|Congenital Stationary Night Blindness|Cone Rod Dystrophy	yes	yes	yes	yes	46.05
CACNB1	HGNC:1401	MGI:102522	-	-	no	no	no	no	NA
CACNB2	HGNC:1402	MGI:894644	OMIM:611876|ORPHA:130	Brugada Syndrome 4|Brugada Syndrome	yes	yes	yes	no	NA
CACNB3	HGNC:1403	MGI:103307	-	-	yes	no	no	no	NA
CACNB4	HGNC:1404	MGI:103301	OMIM:613855|OMIM:607682|ORPHA:307|ORPHA:211067	Episodic Ataxia, Type 5|Epilepsy, Idiopathic Generalized, Susceptibility To, 9|Juvenile Myoclonic Epilepsy|Episodic Ataxia Type 5	yes	yes	yes	no	NA
CACNG1	HGNC:1405	MGI:1206582	-	-	yes	no	no	no	NA
CACNG2	HGNC:1406	MGI:1316660	OMIM:614256|ORPHA:178469	Intellectual Developmental Disorder, Autosomal Dominant 10|Autosomal Dominant Non-Syndromic Intellectual Disability	yes	yes	yes	no	NA
CACNG3	HGNC:1407	MGI:1859165	-	-	no	no	no	no	NA
CACNG4	HGNC:1408	MGI:1859167	-	-	no	no	no	no	NA
CACNG5	HGNC:1409	MGI:2157946	-	-	yes	no	no	no	NA
CACNG6	HGNC:13625	MGI:1859168	-	-	yes	no	no	no	NA
CACNG7	HGNC:13626	MGI:1932374	-	-	yes	no	no	no	NA
CACNG8	HGNC:13628	MGI:1932376	-	-	no	no	no	no	NA
CACTIN	HGNC:29938	MGI:1917562	-	-	yes	no	no	no	NA
CACUL1	HGNC:23727	MGI:1926082	-	-	no	no	no	no	NA
CACYBP	HGNC:30423	MGI:1270839	-	-	yes	no	no	no	NA
CAD	HGNC:1424	MGI:1916969	OMIM:616457|ORPHA:448010	Developmental And Epileptic Encephalopathy 50|Cad-Cdg	yes	yes	yes	no	NA
CADM1	HGNC:5951	MGI:1889272	-	-	yes	no	no	no	NA
CADM2	HGNC:29849	MGI:2442722	-	-	no	no	no	no	NA
CADM3	HGNC:17601	MGI:2137858	OMIM:619519	Charcot-Marie-Tooth Disease, Axonal, Type 2Ff	no	no	no	no	NA
CADM4	HGNC:30825	MGI:2449088	-	-	no	no	no	no	NA
CADPS	HGNC:1426	MGI:1350922	-	-	no	no	no	no	NA
CADPS2	HGNC:16018	MGI:2443963	-	-	yes	no	no	no	NA
CAGE1	HGNC:21622	MGI:1918463	-	-	no	no	no	no	NA
CALB1	HGNC:1434	MGI:88248	-	-	yes	no	no	no	NA
CALB2	HGNC:1435	MGI:101914	-	-	no	no	no	no	NA
CALCA	HGNC:1437	MGI:2151253	-	-	no	no	no	no	NA
CALCB	HGNC:1438	MGI:2151254	-	-	yes	no	no	no	NA
CALCOCO1	HGNC:29306	MGI:1914738	-	-	yes	no	no	no	NA
CALCOCO2	HGNC:29912	MGI:1343177	-	-	yes	no	no	no	NA
CALCR	HGNC:1440	MGI:101950	OMIM:166710	Osteoporosis	yes	yes	yes	no	NA
CALCRL	HGNC:16709	MGI:1926944	OMIM:618773|ORPHA:363999	Lymphatic Malformation 8|Non-Immune Hydrops Fetalis	no	no	no	no	NA
CALD1	HGNC:1441	MGI:88250	-	-	no	no	no	no	NA
CALHM1	HGNC:23494	MGI:3643383	-	-	yes	no	no	no	NA
CALHM2	HGNC:23493	MGI:1919941	-	-	yes	no	no	no	NA
CALHM3	HGNC:23458	MGI:3645665	-	-	no	no	no	no	NA
CALHM4	HGNC:21094	MGI:2685489	-	-	yes	no	no	no	NA
CALHM5	HGNC:21568	MGI:2143897	-	-	yes	no	no	no	NA
CALHM6	HGNC:33391	MGI:2443082	-	-	yes	no	no	no	NA
CALM1	HGNC:1442	MGI:88251	OMIM:616247|OMIM:614916|ORPHA:3286|ORPHA:101016	Long Qt Syndrome 14|Ventricular Tachycardia, Catecholaminergic Polymorphic, 4|Catecholaminergic Polymorphic Ventricular Tachycardia|Romano-Ward Syndrome	no	no	no	no	NA
CALM2	HGNC:1445	MGI:103250	OMIM:616249|ORPHA:3286|ORPHA:101016	Long Qt Syndrome 15|Catecholaminergic Polymorphic Ventricular Tachycardia|Romano-Ward Syndrome	yes	no	yes	no	NA
CALM3	HGNC:1449	MGI:103249	OMIM:618782|ORPHA:3286|ORPHA:101016	Long Qt Syndrome 16|Catecholaminergic Polymorphic Ventricular Tachycardia|Romano-Ward Syndrome	no	no	no	no	NA
CALML3	HGNC:1452	MGI:1917655	-	-	no	no	no	no	NA
CALML4	HGNC:18445	MGI:1922850	-	-	no	no	no	no	NA
CALN1	HGNC:13248	MGI:2155987	-	-	no	no	no	no	NA
CALR	HGNC:1455	MGI:88252	OMIM:254450|OMIM:187950|ORPHA:131|ORPHA:3318|ORPHA:824	Myelofibrosis|Thrombocythemia 1|Budd-Chiari Syndrome|Essential Thrombocythemia|Primary Myelofibrosis	no	no	no	no	NA
CALR3	HGNC:20407	MGI:1920566	ORPHA:155	Non Rare In Europe: Familial Isolated Hypertrophic Cardiomyopathy	no	no	no	no	NA
CALU	HGNC:1458	MGI:1097158	-	-	yes	no	no	no	NA
CALY	HGNC:17938	MGI:1915816	-	-	no	no	no	no	NA
CAMK1	HGNC:1459	MGI:1098535	-	-	yes	no	no	no	NA
CAMK1D	HGNC:19341	MGI:2442190	-	-	yes	no	no	no	NA
CAMK1G	HGNC:14585	MGI:2388073	-	-	no	no	no	no	NA
CAMK2A	HGNC:1460	MGI:88256	OMIM:618095|OMIM:617798|ORPHA:178469	Intellectual Developmental Disorder, Autosomal Recessive 63|Intellectual Developmental Disorder, Autosomal Dominant 53|Autosomal Dominant Non-Syndromic Intellectual Disability	no	no	no	no	NA
CAMK2B	HGNC:1461	MGI:88257	OMIM:617799|ORPHA:178469	Intellectual Developmental Disorder, Autosomal Dominant 54|Autosomal Dominant Non-Syndromic Intellectual Disability	yes	yes	yes	yes	33.555
CAMK2D	HGNC:1462	MGI:1341265	-	-	no	no	no	no	NA
CAMK2G	HGNC:1463	MGI:88259	OMIM:618522	Intellectual Developmental Disorder, Autosomal Dominant 59	no	no	no	no	NA
CAMK2N1	HGNC:24190	MGI:1913509	-	-	no	no	no	no	NA
CAMK2N2	HGNC:24197	MGI:1920297	-	-	no	no	no	no	NA
CAMK4	HGNC:1464	MGI:88258	-	-	yes	no	no	no	NA
CAMKK1	HGNC:1469	MGI:1891766	-	-	no	no	no	no	NA
CAMKK2	HGNC:1470	MGI:2444812	-	-	no	no	no	no	NA
CAMKMT	HGNC:26276	MGI:1920832	ORPHA:163693|ORPHA:238523|ORPHA:369881	2P21 Microdeletion Syndrome|Atypical Hypotonia-Cystinuria Syndrome|2P21 Microdeletion Syndrome Without Cystinuria	yes	yes	yes	yes	38.945
CAMKV	HGNC:28788	MGI:2384296	-	-	yes	no	no	no	NA
CAMLG	HGNC:1471	MGI:104728	OMIM:620201	Congenital Disorder Of Glycosylation, Type Iiz	no	no	no	no	NA
CAMP	HGNC:1472	MGI:108443	-	-	no	no	no	no	NA
CAMSAP1	HGNC:19946	MGI:3036242	OMIM:620316	Cortical Dysplasia, Complex, With Other Brain Malformations 12	yes	yes	yes	no	NA
CAMSAP2	HGNC:29188	MGI:1922434	-	-	no	no	no	no	NA
CAMSAP3	HGNC:29307	MGI:1916947	-	-	yes	no	no	no	NA
CAMTA1	HGNC:18806	MGI:2140230	OMIM:614756|ORPHA:157791|ORPHA:314647	Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities|Epithelioid Hemangioendothelioma|Non-Progressive Cerebellar Ataxia With Intellectual Disability	no	no	no	no	NA
CAMTA2	HGNC:18807	MGI:2135957	-	-	no	no	no	no	NA
CAND1	HGNC:30688	MGI:1261820	-	-	yes	no	no	no	NA
CAND2	HGNC:30689	MGI:1914338	-	-	yes	no	no	no	NA
CANT1	HGNC:19721	MGI:1923275	OMIM:251450|OMIM:617719|ORPHA:1425|ORPHA:647676	Desbuquois Dysplasia 1|Epiphyseal Dysplasia, Multiple, 7|Desbuquois Syndrome|Multiple Epiphyseal Dysplasia Type 7	yes	yes	yes	yes	26.295
CANX	HGNC:1473	MGI:88261	-	-	yes	no	no	no	NA
CAP1	HGNC:20040	MGI:88262	-	-	no	no	no	no	NA
CAP2	HGNC:20039	MGI:1914502	OMIM:620462|ORPHA:154	Cardiomyopathy, Dilated, 2I|Familial Isolated Dilated Cardiomyopathy	yes	yes	yes	yes	35.315
CAPG	HGNC:1474	MGI:1098259	-	-	no	no	no	no	NA
CAPN1	HGNC:1476	MGI:88263	OMIM:616907|ORPHA:488594	Spastic Paraplegia 76, Autosomal Recessive|Autosomal Recessive Spastic Paraplegia Type 76	no	no	no	no	NA
CAPN10	HGNC:1477	MGI:1344392	OMIM:601283	Type 2 Diabetes Mellitus 1	yes	yes	no	no	NA
CAPN11	HGNC:1478	MGI:1352490	-	-	yes	no	no	no	NA
CAPN12	HGNC:13249	MGI:1891369	-	-	yes	no	no	no	NA
CAPN13	HGNC:16663	MGI:2685789	-	-	no	no	no	no	NA
CAPN15	HGNC:11182	MGI:1355075	OMIM:619318|ORPHA:611201	Oculogastrointestinal Neurodevelopmental Syndrome|Oculogastrointestinal-Neurodevelopmental Syndrome	no	no	no	no	NA
CAPN2	HGNC:1479	MGI:88264	-	-	no	no	no	no	NA
CAPN3	HGNC:1480	MGI:107437	OMIM:618129|OMIM:253600|ORPHA:267|ORPHA:565909	Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4|Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1|Calpain-3-Related Limb-Girdle Muscular Dystrophy R1|Calpain-3-Related Limb-Girdle Muscular Dystrophy D4	no	no	no	no	NA
CAPN5	HGNC:1482	MGI:1100859	OMIM:193235|ORPHA:329211	Vitreoretinopathy, Neovascular Inflammatory|Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy	yes	yes	yes	no	NA
CAPN6	HGNC:1483	MGI:1100850	-	-	no	no	no	no	NA
CAPN7	HGNC:1484	MGI:1338030	-	-	no	no	no	no	NA
CAPN8	HGNC:1485	MGI:2181366	-	-	yes	no	no	no	NA
CAPN9	HGNC:1486	MGI:1920897	-	-	no	no	no	no	NA
CAPNS1	HGNC:1481	MGI:88266	-	-	no	no	no	no	NA
CAPNS2	HGNC:16371	MGI:1916793	-	-	no	no	no	no	NA
CAPRIN1	HGNC:6743	MGI:1858234	ORPHA:528084	Non-Specific Syndromic Intellectual Disability	no	no	no	no	NA
CAPRIN2	HGNC:21259	MGI:2448541	-	-	yes	no	no	no	NA
CAPS2	HGNC:16471	MGI:2441980	-	-	no	no	no	no	NA
CAPSL	HGNC:28375	MGI:1922818	-	-	no	no	no	no	NA
CAPZA1	HGNC:1488	MGI:106227	-	-	yes	no	no	no	NA
CAPZA2	HGNC:1490	MGI:106222	-	-	yes	no	no	no	NA
CAPZA3	HGNC:24205	MGI:106221	-	-	no	no	no	no	NA
CAPZB	HGNC:1491	MGI:104652	-	-	yes	no	no	no	NA
CARD10	HGNC:16422	MGI:2146012	OMIM:619632	Immunodeficiency 89 And Autoimmunity	no	no	no	no	NA
CARD11	HGNC:16393	MGI:1916978	OMIM:616452|OMIM:615206|OMIM:617638|ORPHA:357237|ORPHA:300324|ORPHA:464336|ORPHA:619972	B-Cell Expansion With Nfkb And T-Cell Anergy|Immunodeficiency 11A|Immunodeficiency 11B With Atopic Dermatitis|Severe Combined Immunodeficiency Due To Card11 Deficiency|Persistent Polyclonal B-Cell Lymphocytosis|Benta Disease|Cadins Disease	yes	yes	yes	yes	55.545
CARD14	HGNC:16446	MGI:2386258	OMIM:173200|OMIM:602723|ORPHA:2897	Pityriasis Rubra Pilaris|Psoriasis 2	no	no	no	no	NA
CARD19	HGNC:28148	MGI:1915730	-	-	no	no	no	no	NA
CARD6	HGNC:16394	MGI:3032959	-	-	no	no	no	no	NA
CARD9	HGNC:16391	MGI:2685628	OMIM:212050|ORPHA:457088	Immunodeficiency 103, Susceptibility To Fungal Infections|Predisposition To Invasive Fungal Disease Due To Card9 Deficiency	yes	no	yes	no	NA
CARF	HGNC:14435	MGI:2182269	-	-	yes	no	no	no	NA
CARHSP1	HGNC:17150	MGI:1196368	-	-	no	no	no	no	NA
CARM1	HGNC:23393	MGI:1913208	-	-	yes	no	no	no	NA
CARMIL1	HGNC:21581	MGI:1915982	-	-	yes	no	no	no	NA
CARMIL2	HGNC:27089	MGI:2685431	OMIM:618131|ORPHA:542301	Immunodeficiency 58|Combined Immunodeficiency Due To Carmil2 Deficiency	yes	yes	yes	no	NA
CARMIL3	HGNC:20272	MGI:2448573	-	-	yes	no	no	no	NA
CARNMT1	HGNC:23435	MGI:1914633	-	-	no	no	no	no	NA
CARNS1	HGNC:29268	MGI:2147595	-	-	no	no	no	no	NA
CARS1	HGNC:1493	MGI:1351477	OMIM:618891|ORPHA:178342|ORPHA:33364	Microcephaly, Developmental Delay, And Brittle Hair Syndrome|Inflammatory Myofibroblastic Tumor|Trichothiodystrophy	no	no	no	no	NA
CARS2	HGNC:25695	MGI:1919191	OMIM:616672|ORPHA:477774	Combined Oxidative Phosphorylation Deficiency 27|Combined Oxidative Phosphorylation Defect Type 27	yes	yes	yes	yes	28.725
CARTPT	HGNC:24323	MGI:1351330	OMIM:601665	Obesity	yes	yes	yes	no	NA
CASC3	HGNC:17040	MGI:2179723	-	-	yes	no	no	no	NA
CASD1	HGNC:16014	MGI:2384865	-	-	no	no	no	no	NA
CASK	HGNC:1497	MGI:1309489	OMIM:300422|OMIM:300749|ORPHA:163937|ORPHA:1934|ORPHA:323	Fg Syndrome 4|Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia|X-Linked Intellectual Disability, Najm Type|Early Infantile Epileptic Encephalopathy|Non Rare In Europe: Fg Syndrome Phenotypic Spectrum	no	no	no	no	NA
CASKIN1	HGNC:20879	MGI:2442952	-	-	yes	no	no	no	NA
CASKIN2	HGNC:18200	MGI:2157062	-	-	yes	no	no	no	NA
CASP1	HGNC:1499	MGI:96544	-	-	no	no	no	no	NA
CASP12	HGNC:19004	MGI:1312922	-	-	yes	no	no	no	NA
CASP14	HGNC:1502	MGI:1335092	OMIM:617320	Ichthyosis, Congenital, Autosomal Recessive 12	yes	yes	yes	no	NA
CASP2	HGNC:1503	MGI:97295	-	-	yes	no	no	no	NA
CASP3	HGNC:1504	MGI:107739	-	-	no	no	no	no	NA
CASP4	HGNC:1505	MGI:107700	-	-	yes	no	no	no	NA
CASP6	HGNC:1507	MGI:1312921	-	-	no	no	no	no	NA
CASP7	HGNC:1508	MGI:109383	-	-	no	no	no	no	NA
CASP8	HGNC:1509	MGI:1261423	OMIM:607271|OMIM:211980|OMIM:114480|OMIM:114550|ORPHA:275517|ORPHA:210159	Caspase 8 Deficiency|Lung Cancer|Breast Cancer|Hepatocellular Carcinoma|Autoimmune Lymphoproliferative Syndrome With Recurrent Viral Infections|Adult Hepatocellular Carcinoma	no	no	no	no	NA
CASP8AP2	HGNC:1510	MGI:1349399	-	-	no	no	no	no	NA
CASP9	HGNC:1511	MGI:1277950	-	-	no	no	no	no	NA
CASQ1	HGNC:1512	MGI:1309468	OMIM:616231|ORPHA:2593|ORPHA:88635	Myopathy, Vacuolar, With Casq1 Aggregates|Tubular Aggregate Myopathy|Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates	yes	yes	yes	yes	48.59
CASQ2	HGNC:1513	MGI:1309469	OMIM:611938|ORPHA:3286	Ventricular Tachycardia, Catecholaminergic Polymorphic, 2|Catecholaminergic Polymorphic Ventricular Tachycardia	yes	yes	yes	yes	64.405
CASR	HGNC:1514	MGI:1351351	OMIM:239200|OMIM:601198|OMIM:145980|OMIM:612899|ORPHA:417|ORPHA:676|ORPHA:428|ORPHA:93372	Hyperparathyroidism, Neonatal Severe|Hypocalcemia, Autosomal Dominant 1|Hypocalciuric Hypercalcemia, Familial, Type I|Epilepsy, Idiopathic Generalized, Susceptibility To, 8|Neonatal Severe Primary Hyperparathyroidism|Hereditary Chronic Pancreatitis|Autosomal Dominant Hypocalcemia|Familial Hypocalciuric Hypercalcemia Type 1	yes	yes	yes	yes	64.29
CASS4	HGNC:15878	MGI:2444482	-	-	yes	no	no	no	NA
CAST	HGNC:1515	MGI:1098236	OMIM:616295|ORPHA:444138	Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads|Peeling Skin-Leukonychia-Acral Punctate Keratoses-Cheilitis-Knuckle Pads Syndrome	yes	yes	yes	no	NA
CASTOR1	HGNC:34423	MGI:1919212	-	-	yes	no	no	no	NA
CASTOR2	HGNC:37073	MGI:1933384	-	-	no	no	no	no	NA
CASZ1	HGNC:26002	MGI:1196251	ORPHA:1606	1P36 Deletion Syndrome	yes	yes	yes	yes	17.63
CAT	HGNC:1516	MGI:88271	OMIM:614097|ORPHA:926	Acatalasemia	no	no	no	no	NA
CATIP	HGNC:25062	MGI:2685062	OMIM:619379|ORPHA:399805	Spermatogenic Failure 54|Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	yes	yes	yes	yes	69.065
CATSPER1	HGNC:17116	MGI:2179947	OMIM:612997|ORPHA:276234	Spermatogenic Failure 7|Non-Syndromic Male Infertility Due To Sperm Motility Disorder	no	no	no	no	NA
CATSPER2	HGNC:18810	MGI:2387404	ORPHA:94064	Deafness-Infertility Syndrome	yes	yes	yes	yes	82.365
CATSPER3	HGNC:20819	MGI:1924106	-	-	yes	no	no	no	NA
CATSPER4	HGNC:23220	MGI:3043288	-	-	no	no	no	no	NA
CATSPERB	HGNC:20500	MGI:2443988	-	-	no	no	no	no	NA
CATSPERD	HGNC:28598	MGI:2147030	-	-	no	no	no	no	NA
CATSPERZ	HGNC:19231	MGI:1914327	-	-	yes	no	no	no	NA
CAV1	HGNC:1527	MGI:102709	OMIM:612526|OMIM:606721|OMIM:615343|ORPHA:528|ORPHA:275777|ORPHA:220402|ORPHA:220393	Lipodystrophy, Congenital Generalized, Type 3|Lipodystrophy, Familial Partial, Type 7|Pulmonary Hypertension, Primary, 3|Congenital Generalized Lipodystrophy|Heritable Pulmonary Arterial Hypertension|Limited Cutaneous Systemic Sclerosis|Diffuse Cutaneous Systemic Sclerosis	yes	yes	yes	yes	57.48
CAV2	HGNC:1528	MGI:107571	-	-	yes	no	no	no	NA
CAV3	HGNC:1529	MGI:107570	OMIM:192600|OMIM:123320|OMIM:611818|OMIM:614321|OMIM:606072|ORPHA:155|ORPHA:206599|ORPHA:488650|ORPHA:97238|ORPHA:101016	Cardiomyopathy, Familial Hypertrophic, 1|Creatine Phosphokinase, Elevated Serum|Long Qt Syndrome 9|Myopathy, Distal, Tateyama Type|Rippling Muscle Disease 2|Non Rare In Europe: Familial Isolated Hypertrophic Cardiomyopathy|Isolated Asymptomatic Elevation Of Creatine Phosphokinase|Distal Myopathy, Tateyama Type|Rippling Muscle Disease|Romano-Ward Syndrome	yes	yes	yes	yes	50.81
CAVIN1	HGNC:9688	MGI:1277968	OMIM:613327|ORPHA:528	Lipodystrophy, Congenital Generalized, Type 4|Congenital Generalized Lipodystrophy	no	no	no	no	NA
CAVIN2	HGNC:10690	MGI:99513	-	-	no	no	no	no	NA
CAVIN3	HGNC:9400	MGI:1923422	-	-	yes	no	no	no	NA
CAVIN4	HGNC:33742	MGI:1915266	-	-	no	no	no	no	NA
CBARP	HGNC:28617	MGI:1354170	-	-	yes	no	no	no	NA
CBFA2T2	HGNC:1536	MGI:1333833	-	-	no	no	no	no	NA
CBFA2T3	HGNC:1537	MGI:1338013	ORPHA:329469	Acute Megakaryoblastic Leukemia Without Down Syndrome	no	no	no	no	NA
CBFB	HGNC:1539	MGI:99851	OMIM:620099|ORPHA:98829	Cleidocranial Dysplasia 2|Acute Myeloid Leukemia With Abnormal Bone Marrow Eosinophils Inv(16)(P13Q22) Or T(16;16)(P13;Q22)	no	no	no	no	NA
CBL	HGNC:1541	MGI:88279	OMIM:607785|OMIM:613563|ORPHA:648|ORPHA:363972|ORPHA:86834|ORPHA:98850	Juvenile Myelomonocytic Leukemia|Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia|Noonan Syndrome|Noonan Syndrome-Like Disorder With Juvenile Myelomonocytic Leukemia|Aggressive Systemic Mastocytosis	yes	yes	yes	yes	23.62
CBLB	HGNC:1542	MGI:2146430	OMIM:620430	Autoimmune Disease, Multisystem, Infantile-Onset, 3	no	no	no	no	NA
CBLC	HGNC:15961	MGI:1931457	-	-	no	no	no	no	NA
CBLIF	HGNC:4268	MGI:1202394	OMIM:261000|ORPHA:332	Intrinsic Factor Deficiency|Congenital Intrinsic Factor Deficiency	yes	yes	yes	yes	62.355
CBLL1	HGNC:21225	MGI:2144842	-	-	no	no	no	no	NA
CBLN1	HGNC:1543	MGI:88281	-	-	no	no	no	no	NA
CBLN2	HGNC:1544	MGI:88282	-	-	no	no	no	no	NA
CBLN3	HGNC:20146	MGI:1889286	-	-	yes	no	no	no	NA
CBLN4	HGNC:16231	MGI:2154433	-	-	no	no	no	no	NA
CBR1	HGNC:1548	MGI:88284	-	-	no	no	no	no	NA
CBR3	HGNC:1549	MGI:1309992	-	-	yes	no	no	no	NA
CBR4	HGNC:25891	MGI:2384567	-	-	yes	no	no	no	NA
CBS	HGNC:1550	MGI:88285	OMIM:236200|ORPHA:394	Homocystinuria Due To Cystathionine Beta-Synthase Deficiency|Classic Homocystinuria	no	no	no	no	NA
CBX1	HGNC:1551	MGI:105369	-	-	yes	no	no	no	NA
CBX2	HGNC:1552	MGI:88289	OMIM:613080|ORPHA:242	46,Xy Sex Reversal 5|46,Xy Complete Gonadal Dysgenesis	yes	yes	yes	no	NA
CBX3	HGNC:1553	MGI:108515	-	-	no	no	no	no	NA
CBX4	HGNC:1554	MGI:1195985	-	-	yes	no	no	no	NA
CBX5	HGNC:1555	MGI:109372	-	-	yes	no	no	no	NA
CBX6	HGNC:1556	MGI:3512628	-	-	yes	no	no	no	NA
CBX7	HGNC:1557	MGI:1196439	-	-	yes	no	no	no	NA
CBX8	HGNC:15962	MGI:1353589	-	-	no	no	no	no	NA
CBY1	HGNC:1307	MGI:1920989	ORPHA:475	Joubert Syndrome	no	no	no	no	NA
CBY2	HGNC:30720	MGI:1915176	-	-	yes	no	no	no	NA
CBY3	HGNC:33278	MGI:1923903	-	-	no	no	no	no	NA
CC2D1A	HGNC:30237	MGI:2384831	OMIM:608443|ORPHA:88616	Intellectual Developmental Disorder, Autosomal Recessive 3|Autosomal Recessive Non-Syndromic Intellectual Disability	no	no	no	no	NA
CC2D1B	HGNC:29386	MGI:2443076	-	-	yes	no	no	no	NA
CC2D2A	HGNC:29253	MGI:1924487	OMIM:619111|OMIM:612285|OMIM:612284|OMIM:619845|ORPHA:564|ORPHA:2318|ORPHA:791|ORPHA:1454	Coach Syndrome 2|Joubert Syndrome 9|Meckel Syndrome, Type 6|Retinitis Pigmentosa 93|Meckel Syndrome|Joubert Syndrome With Oculorenal Defect|Retinitis Pigmentosa|Joubert Syndrome With Hepatic Defect	yes	no	yes	no	NA
CC2D2B	HGNC:31666	MGI:3645359	-	-	no	no	no	no	NA
CCAR1	HGNC:24236	MGI:1914750	-	-	no	no	no	no	NA
CCAR2	HGNC:23360	MGI:2444228	-	-	no	no	no	no	NA
CCBE1	HGNC:29426	MGI:2445053	OMIM:235510|ORPHA:2136	Hennekam Lymphangiectasia-Lymphedema Syndrome 1|Hennekam Syndrome	yes	yes	yes	yes	37.945
CCDC102A	HGNC:28097	MGI:2686927	-	-	no	no	no	no	NA
CCDC103	HGNC:32700	MGI:1920543	OMIM:614679|ORPHA:244	Ciliary Dyskinesia, Primary, 17|Primary Ciliary Dyskinesia	yes	yes	yes	no	NA
CCDC106	HGNC:30181	MGI:2385900	-	-	yes	no	no	no	NA
CCDC107	HGNC:28465	MGI:1913423	-	-	yes	no	no	no	NA
CCDC110	HGNC:28504	MGI:2685018	-	-	yes	no	no	no	NA
CCDC112	HGNC:28599	MGI:1918800	-	-	no	no	no	no	NA
CCDC115	HGNC:28178	MGI:1916918	OMIM:616828|ORPHA:468684	Congenital Disorder Of Glycosylation, Type Iio|Ccdc115-Cdg	no	no	no	no	NA
CCDC116	HGNC:26688	MGI:1924122	-	-	yes	no	no	no	NA
CCDC117	HGNC:26599	MGI:2144383	-	-	yes	no	no	no	NA
CCDC12	HGNC:28332	MGI:1919904	-	-	no	no	no	no	NA
CCDC120	HGNC:28910	MGI:1859619	-	-	yes	no	no	no	NA
CCDC122	HGNC:26478	MGI:1918358	-	-	yes	no	no	no	NA
CCDC124	HGNC:25171	MGI:1916403	-	-	yes	no	no	no	NA
CCDC125	HGNC:28924	MGI:1923291	-	-	yes	no	no	no	NA
CCDC126	HGNC:22398	MGI:1889376	-	-	no	no	no	no	NA
CCDC127	HGNC:30520	MGI:1914683	-	-	yes	no	no	no	NA
CCDC13	HGNC:26358	MGI:1920144	-	-	no	no	no	no	NA
CCDC134	HGNC:26185	MGI:1923707	OMIM:619795	Osteogenesis Imperfecta, Type Xxii	yes	yes	yes	no	NA
CCDC136	HGNC:22225	MGI:1918128	-	-	yes	no	no	no	NA
CCDC137	HGNC:33451	MGI:1914541	-	-	yes	no	no	no	NA
CCDC138	HGNC:26531	MGI:1923388	-	-	no	no	no	no	NA
CCDC14	HGNC:25766	MGI:2443448	-	-	no	no	no	no	NA
CCDC141	HGNC:26821	MGI:1919735	ORPHA:478	Kallmann Syndrome	yes	yes	yes	yes	25.39
CCDC142	HGNC:25889	MGI:3045292	-	-	no	no	no	no	NA
CCDC146	HGNC:29296	MGI:1922422	-	-	yes	no	no	no	NA
CCDC148	HGNC:25191	MGI:3039583	-	-	yes	no	no	no	NA
CCDC149	HGNC:25405	MGI:2685293	-	-	no	no	no	no	NA
CCDC15	HGNC:25798	MGI:2444488	-	-	yes	no	no	no	NA
CCDC150	HGNC:26834	MGI:1925266	-	-	no	no	no	no	NA
CCDC152	HGNC:34438	MGI:3641617	-	-	no	no	no	no	NA
CCDC154	HGNC:34454	MGI:2685163	-	-	no	no	no	no	NA
CCDC157	HGNC:33854	MGI:3041210	-	-	no	no	no	no	NA
CCDC158	HGNC:26374	MGI:2444555	-	-	no	no	no	no	NA
CCDC159	HGNC:26996	MGI:1914369	-	-	yes	no	no	no	NA
CCDC160	HGNC:37286	MGI:3588225	-	-	yes	no	no	no	NA
CCDC166	HGNC:41910	MGI:1925902	-	-	yes	no	no	no	NA
CCDC167	HGNC:21239	MGI:1915847	-	-	no	no	no	no	NA
CCDC168	HGNC:26851	MGI:3647616	-	-	no	no	no	no	NA
CCDC169	HGNC:34361	MGI:2444356	-	-	no	no	no	no	NA
CCDC17	HGNC:26574	MGI:1915667	-	-	no	no	no	no	NA
CCDC170	HGNC:21177	MGI:2685067	-	-	yes	no	no	no	NA
CCDC171	HGNC:29828	MGI:1922152	-	-	no	no	no	no	NA
CCDC172	HGNC:30524	MGI:1922895	-	-	yes	no	no	no	NA
CCDC174	HGNC:28033	MGI:2444652	OMIM:616816|ORPHA:467176	Hypotonia, Infantile, With Psychomotor Retardation|Severe Hypotonia-Psychomotor Developmental Delay-Strabismus-Cardiac Septal Defect Syndrome	yes	yes	yes	no	NA
CCDC175	HGNC:19847	MGI:1921186	-	-	no	no	no	no	NA
CCDC177	HGNC:23243	MGI:2686414	-	-	no	no	no	no	NA
CCDC178	HGNC:29588	MGI:1918200	-	-	yes	no	no	no	NA
CCDC179	HGNC:44653	MGI:1922779	-	-	no	no	no	no	NA
CCDC18	HGNC:30370	MGI:1922974	-	-	yes	no	no	no	NA
CCDC180	HGNC:29303	MGI:2685871	-	-	yes	no	no	no	NA
CCDC181	HGNC:28051	MGI:1922145	-	-	yes	no	no	no	NA
CCDC182	HGNC:49392	MGI:1921547	-	-	no	no	no	no	NA
CCDC183	HGNC:28236	MGI:1924308	-	-	yes	no	no	no	NA
CCDC184	HGNC:33749	MGI:2146066	-	-	yes	no	no	no	NA
CCDC185	HGNC:26654	MGI:3618292	-	-	no	no	no	no	NA
CCDC186	HGNC:24349	MGI:2445022	-	-	yes	no	no	no	NA
CCDC187	HGNC:30942	MGI:3045295	-	-	no	no	no	no	NA
CCDC188	HGNC:51899	MGI:3647803	-	-	no	no	no	no	NA
CCDC190	HGNC:28736	MGI:1925715	-	-	no	no	no	no	NA
CCDC191	HGNC:29272	MGI:1922661	-	-	yes	no	no	no	NA
CCDC192	HGNC:49566	MGI:1922694	-	-	no	no	no	no	NA
CCDC198	HGNC:20189	MGI:1914332	-	-	yes	no	no	no	NA
CCDC22	HGNC:28909	MGI:1859608	OMIM:300963|ORPHA:7	Ritscher-Schinzel Syndrome 2|3C Syndrome	no	no	no	no	NA
CCDC24	HGNC:28688	MGI:2685874	-	-	yes	no	no	no	NA
CCDC25	HGNC:25591	MGI:1914429	-	-	yes	no	no	no	NA
CCDC27	HGNC:26546	MGI:2685881	-	-	no	no	no	no	NA
CCDC28A	HGNC:21098	MGI:2443508	-	-	yes	no	no	no	NA
CCDC28B	HGNC:28163	MGI:1913514	OMIM:209900	Bardet-Biedl Syndrome 1	no	no	no	no	NA
CCDC3	HGNC:23813	MGI:1921436	-	-	no	no	no	no	NA
CCDC30	HGNC:26103	MGI:1920582	-	-	yes	no	no	no	NA
CCDC32	HGNC:28295	MGI:2685477	OMIM:619123|ORPHA:528084	Cardiofacioneurodevelopmental Syndrome|Non-Specific Syndromic Intellectual Disability	no	no	no	no	NA
CCDC33	HGNC:26552	MGI:1922464	-	-	yes	no	no	no	NA
CCDC34	HGNC:25079	MGI:1915451	OMIM:620084|ORPHA:399805	Spermatogenic Failure 76|Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	yes	yes	yes	yes	70.93
CCDC38	HGNC:26843	MGI:2444738	-	-	no	no	no	no	NA
CCDC39	HGNC:25244	MGI:1289263	OMIM:613807|ORPHA:244	Ciliary Dyskinesia, Primary, 14|Primary Ciliary Dyskinesia	yes	yes	yes	no	NA
CCDC40	HGNC:26090	MGI:2443893	OMIM:613808|ORPHA:244	Ciliary Dyskinesia, Primary, 15|Primary Ciliary Dyskinesia	yes	yes	yes	yes	42.06
CCDC42	HGNC:26528	MGI:3045254	-	-	no	no	no	no	NA
CCDC43	HGNC:26472	MGI:1289318	-	-	no	no	no	no	NA
CCDC47	HGNC:24856	MGI:1914413	OMIM:618268	Trichohepatoneurodevelopmental Syndrome	no	no	no	no	NA
CCDC50	HGNC:18111	MGI:1914751	OMIM:607453|ORPHA:90635	Deafness, Autosomal Dominant 44|Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	yes	yes	yes	no	NA
CCDC51	HGNC:25714	MGI:1913908	-	-	yes	no	no	no	NA
CCDC54	HGNC:30703	MGI:1916589	-	-	no	no	no	no	NA
CCDC57	HGNC:27564	MGI:1918526	-	-	yes	no	no	no	NA
CCDC59	HGNC:25005	MGI:1289302	-	-	yes	no	no	no	NA
CCDC6	HGNC:18782	MGI:1923801	ORPHA:146	Differentiated Thyroid Carcinoma	yes	yes	no	no	NA
CCDC60	HGNC:28610	MGI:2141043	-	-	no	no	no	no	NA
CCDC61	HGNC:33629	MGI:2685005	-	-	no	no	no	no	NA
CCDC62	HGNC:30723	MGI:2684996	OMIM:619803	Spermatogenic Failure 67	no	no	no	no	NA
CCDC63	HGNC:26669	MGI:3607777	-	-	no	no	no	no	NA
CCDC65	HGNC:29937	MGI:2146001	OMIM:615504|ORPHA:244	Ciliary Dyskinesia, Primary, 27|Primary Ciliary Dyskinesia	yes	yes	yes	no	NA
CCDC66	HGNC:27709	MGI:2443639	-	-	yes	no	no	no	NA
CCDC68	HGNC:24350	MGI:3612676	-	-	no	no	no	no	NA
CCDC69	HGNC:24487	MGI:1196234	-	-	yes	no	no	no	NA
CCDC70	HGNC:25303	MGI:1915179	-	-	no	no	no	no	NA
CCDC71	HGNC:25760	MGI:1919704	-	-	no	no	no	no	NA
CCDC71L	HGNC:26685	MGI:1919373	-	-	no	no	no	no	NA
CCDC73	HGNC:23261	MGI:3606488	-	-	no	no	no	no	NA
CCDC77	HGNC:28203	MGI:1914450	-	-	yes	no	no	no	NA
CCDC78	HGNC:14153	MGI:2685784	OMIM:614807|ORPHA:319160	Myopathy, Centronuclear, 4|Congenital Myopathy With Internal Nuclei And Atypical Cores	yes	yes	yes	yes	24.13
CCDC8	HGNC:25367	MGI:3612184	OMIM:614205|ORPHA:2616	Three M Syndrome 3|3M Syndrome	yes	yes	yes	yes	12.66
CCDC80	HGNC:30649	MGI:1915146	-	-	no	no	no	no	NA
CCDC81	HGNC:26281	MGI:1918134	-	-	no	no	no	no	NA
CCDC82	HGNC:26282	MGI:1913646	-	-	no	no	no	no	NA
CCDC83	HGNC:28535	MGI:1918255	-	-	yes	no	no	no	NA
CCDC85A	HGNC:29400	MGI:2445069	-	-	yes	no	no	no	NA
CCDC85B	HGNC:24926	MGI:2147607	-	-	yes	no	no	no	NA
CCDC85C	HGNC:35459	MGI:3644008	-	-	yes	no	no	no	NA
CCDC86	HGNC:28359	MGI:1277220	-	-	no	no	no	no	NA
CCDC87	HGNC:25579	MGI:3026882	-	-	yes	no	no	no	NA
CCDC88A	HGNC:25523	MGI:1925177	OMIM:617507|ORPHA:99807	Peho-Like Syndrome	no	no	no	no	NA
CCDC88B	HGNC:26757	MGI:1925567	-	-	yes	no	no	no	NA
CCDC88C	HGNC:19967	MGI:1915589	OMIM:616053|OMIM:236600|ORPHA:269510|ORPHA:423275	Spinocerebellar Ataxia 40|Hydrocephalus, Congenital, 1|Congenital Non-Communicating Hydrocephalus|Spinocerebellar Ataxia Type 40	yes	yes	yes	no	NA
CCDC89	HGNC:26762	MGI:1917304	-	-	no	no	no	no	NA
CCDC9	HGNC:24560	MGI:1921443	-	-	no	no	no	no	NA
CCDC90B	HGNC:28108	MGI:1913615	-	-	yes	no	no	no	NA
CCDC91	HGNC:24855	MGI:1914265	-	-	yes	no	no	no	NA
CCDC92	HGNC:29563	MGI:106485	-	-	yes	no	no	no	NA
CCDC93	HGNC:25611	MGI:1918079	-	-	yes	no	no	no	NA
CCDC97	HGNC:28289	MGI:1196455	-	-	no	no	no	no	NA
CCDC9B	HGNC:33488	MGI:2685199	-	-	yes	no	no	no	NA
CCER1	HGNC:28373	MGI:1913966	-	-	no	no	no	no	NA
CCER2	HGNC:44662	MGI:3645242	-	-	no	no	no	no	NA
CCHCR1	HGNC:13930	MGI:2385321	-	-	yes	no	no	no	NA
CCIN	HGNC:1568	MGI:3045316	-	-	no	no	no	no	NA
CCK	HGNC:1569	MGI:88297	-	-	yes	no	no	no	NA
CCKAR	HGNC:1570	MGI:99478	-	-	yes	no	no	no	NA
CCKBR	HGNC:1571	MGI:99479	-	-	yes	no	no	no	NA
CCL1	HGNC:10609	MGI:98258	-	-	no	no	no	no	NA
CCL11	HGNC:10610	MGI:103576	OMIM:609423|OMIM:600807	Human Immunodeficiency Virus Type 1, Susceptibility To|Asthma, Susceptibility To	no	no	no	no	NA
CCL17	HGNC:10615	MGI:1329039	-	-	yes	no	no	no	NA
CCL19	HGNC:10617	MGI:1346316	-	-	no	no	no	no	NA
CCL20	HGNC:10619	MGI:1329031	-	-	yes	no	no	no	NA
CCL22	HGNC:10621	MGI:1306779	-	-	yes	no	no	no	NA
CCL24	HGNC:10623	MGI:1928953	-	-	no	no	no	no	NA
CCL25	HGNC:10624	MGI:1099448	-	-	yes	no	no	no	NA
CCL26	HGNC:10625	MGI:3589281	-	-	yes	no	no	no	NA
CCL28	HGNC:17700	MGI:1861731	-	-	yes	no	no	no	NA
CCL5	HGNC:10632	MGI:98262	OMIM:609423	Human Immunodeficiency Virus Type 1, Susceptibility To	no	no	no	no	NA
CCL7	HGNC:10634	MGI:99512	-	-	no	no	no	no	NA
CCM2	HGNC:21708	MGI:2384924	OMIM:603284|ORPHA:221061	Cerebral Cavernous Malformations 2|Familial Cerebral Cavernous Malformation	no	no	no	no	NA
CCM2L	HGNC:16153	MGI:2385159	-	-	no	no	no	no	NA
CCN1	HGNC:2654	MGI:88613	-	-	no	no	no	no	NA
CCN2	HGNC:2500	MGI:95537	ORPHA:220402|ORPHA:220393	Limited Cutaneous Systemic Sclerosis|Diffuse Cutaneous Systemic Sclerosis	no	no	no	no	NA
CCN3	HGNC:7885	MGI:109185	-	-	yes	no	no	no	NA
CCN4	HGNC:12769	MGI:1197008	-	-	no	no	no	no	NA
CCN5	HGNC:12770	MGI:1328326	-	-	yes	no	no	no	NA
CCN6	HGNC:12771	MGI:2685581	OMIM:208230|ORPHA:1159	Progressive Pseudorheumatoid Dysplasia|Progressive Pseudorheumatoid Arthropathy Of Childhood	no	no	no	no	NA
CCNA1	HGNC:1577	MGI:108042	-	-	no	no	no	no	NA
CCNA2	HGNC:1578	MGI:108069	-	-	no	no	no	no	NA
CCNB1	HGNC:1579	MGI:88302	-	-	yes	no	no	no	NA
CCNB1IP1	HGNC:19437	MGI:2685134	-	-	yes	no	no	no	NA
CCNB2	HGNC:1580	MGI:88311	-	-	no	no	no	no	NA
CCNB3	HGNC:18709	MGI:2183443	-	-	no	no	no	no	NA
CCNC	HGNC:1581	MGI:1858199	-	-	no	no	no	no	NA
CCND1	HGNC:1582	MGI:88313	OMIM:114500|OMIM:193300|OMIM:254500|ORPHA:892|ORPHA:29073|ORPHA:67038|ORPHA:52416	Colorectal Cancer|Von Hippel-Lindau Syndrome|Myeloma, Multiple|Von Hippel-Lindau Disease|Multiple Myeloma|B-Cell Chronic Lymphocytic Leukemia|Mantle Cell Lymphoma	no	no	no	no	NA
CCND2	HGNC:1583	MGI:88314	OMIM:615938|ORPHA:83473	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3|Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	yes	yes	yes	no	NA
CCND3	HGNC:1585	MGI:88315	-	-	no	no	no	no	NA
CCNDBP1	HGNC:1587	MGI:109595	-	-	no	no	no	no	NA
CCNE1	HGNC:1589	MGI:88316	-	-	no	no	no	no	NA
CCNE2	HGNC:1590	MGI:1329034	-	-	no	no	no	no	NA
CCNF	HGNC:1591	MGI:102551	OMIM:619141|ORPHA:803	Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5|Amyotrophic Lateral Sclerosis	no	no	no	no	NA
CCNG1	HGNC:1592	MGI:102890	-	-	no	no	no	no	NA
CCNG2	HGNC:1593	MGI:1095734	-	-	yes	no	no	no	NA
CCNH	HGNC:1594	MGI:1913921	-	-	no	no	no	no	NA
CCNI	HGNC:1595	MGI:1341077	-	-	no	no	no	no	NA
CCNJ	HGNC:23434	MGI:2443297	-	-	yes	no	no	no	NA
CCNJL	HGNC:25876	MGI:2685723	-	-	no	no	no	no	NA
CCNK	HGNC:1596	MGI:1276106	OMIM:618147|ORPHA:600668	Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies|Ccnk-Related Neurodevelopmental Disorder-Severe Intellectual Disability-Facial Dysmorphism Syndrome	no	no	no	no	NA
CCNL1	HGNC:20569	MGI:1922664	-	-	no	no	no	no	NA
CCNL2	HGNC:20570	MGI:1927119	-	-	no	no	no	no	NA
CCNO	HGNC:18576	MGI:2145534	OMIM:615872|ORPHA:244	Ciliary Dyskinesia, Primary, 29|Primary Ciliary Dyskinesia	yes	yes	yes	yes	34.91
CCNQ	HGNC:28434	MGI:1916359	OMIM:300707|ORPHA:140952	Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations|Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	yes	yes	yes	yes	30.095
CCNT1	HGNC:1599	MGI:1328363	-	-	yes	no	no	no	NA
CCNT2	HGNC:1600	MGI:1920199	-	-	yes	no	no	no	NA
CCNY	HGNC:23354	MGI:1915224	-	-	no	no	no	no	NA
CCNYL1	HGNC:26868	MGI:2138614	-	-	yes	no	no	no	NA
CCP110	HGNC:24342	MGI:2141942	-	-	no	no	no	no	NA
CCPG1	HGNC:24227	MGI:1196419	-	-	yes	no	no	no	NA
CCR10	HGNC:4474	MGI:1096320	-	-	no	no	no	no	NA
CCR2	HGNC:1603	MGI:106185	OMIM:609423	Human Immunodeficiency Virus Type 1, Susceptibility To	yes	yes	yes	no	NA
CCR3	HGNC:1604	MGI:104616	-	-	yes	no	no	no	NA
CCR4	HGNC:1605	MGI:107824	-	-	no	no	no	no	NA
CCR5	HGNC:1606	MGI:107182	OMIM:609423|OMIM:612522|OMIM:609532|OMIM:610379	Human Immunodeficiency Virus Type 1, Susceptibility To|Type 1 Diabetes Mellitus 22|Hepatitis C Virus, Susceptibility To|West Nile Virus, Susceptibility To	no	no	no	no	NA
CCR6	HGNC:1607	MGI:1333797	ORPHA:220402|ORPHA:220393	Limited Cutaneous Systemic Sclerosis|Diffuse Cutaneous Systemic Sclerosis	yes	yes	yes	yes	27.69
CCR7	HGNC:1608	MGI:103011	-	-	no	no	no	no	NA
CCR8	HGNC:1609	MGI:1201402	-	-	yes	no	no	no	NA
CCR9	HGNC:1610	MGI:1341902	-	-	yes	no	no	no	NA
CCRL2	HGNC:1612	MGI:1920904	-	-	no	no	no	no	NA
CCS	HGNC:1613	MGI:1333783	-	-	no	no	no	no	NA
CCSAP	HGNC:29578	MGI:1920670	-	-	yes	no	no	no	NA
CCSER1	HGNC:29349	MGI:3045354	-	-	no	no	no	no	NA
CCSER2	HGNC:29197	MGI:101859	-	-	no	no	no	no	NA
CCT2	HGNC:1615	MGI:107186	-	-	no	no	no	no	NA
CCT3	HGNC:1616	MGI:104708	-	-	yes	no	no	no	NA
CCT4	HGNC:1617	MGI:104689	-	-	no	no	no	no	NA
CCT5	HGNC:1618	MGI:107185	OMIM:256840|ORPHA:139578	Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive|Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	yes	yes	yes	no	NA
CCT6A	HGNC:1620	MGI:107943	-	-	no	no	no	no	NA
CCT6B	HGNC:1621	MGI:1329013	-	-	no	no	no	no	NA
CCT7	HGNC:1622	MGI:107184	-	-	yes	no	no	no	NA
CCT8	HGNC:1623	MGI:107183	-	-	yes	no	no	no	NA
CCT8L2	HGNC:15553	MGI:2685289	-	-	no	no	no	no	NA
CD101	HGNC:5949	MGI:2685862	-	-	no	no	no	no	NA
CD109	HGNC:21685	MGI:2445221	ORPHA:853	Fetal And Neonatal Alloimmune Thrombocytopenia	yes	yes	yes	yes	44.345
CD14	HGNC:1628	MGI:88318	-	-	no	no	no	no	NA
CD151	HGNC:1630	MGI:1096360	OMIM:609057|OMIM:179620|ORPHA:300333	Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness|Raph Blood Group System|Nephrotic Syndrome-Epidermolysis Bullosa-Sensorineural Deafness Syndrome	no	no	no	no	NA
CD160	HGNC:17013	MGI:1860383	-	-	yes	no	no	no	NA
CD163	HGNC:1631	MGI:2135946	-	-	yes	no	no	no	NA
CD164	HGNC:1632	MGI:1859568	OMIM:616969|ORPHA:90635	Deafness, Autosomal Dominant 66|Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	yes	no	yes	no	NA
CD164L2	HGNC:32043	MGI:1916905	-	-	no	no	no	no	NA
CD177	HGNC:30072	MGI:1916141	-	-	no	no	no	no	NA
CD180	HGNC:6726	MGI:1194924	-	-	no	no	no	no	NA
CD19	HGNC:1633	MGI:88319	OMIM:613493|ORPHA:1572	Immunodeficiency, Common Variable, 3|Common Variable Immunodeficiency	yes	yes	yes	yes	39.75
CD2	HGNC:1639	MGI:88320	-	-	no	no	no	no	NA
CD200	HGNC:7203	MGI:1196990	-	-	yes	no	no	no	NA
CD207	HGNC:17935	MGI:2180021	OMIM:613393	Birbeck Granule Deficiency	no	no	no	no	NA
CD22	HGNC:1643	MGI:88322	-	-	yes	no	no	no	NA
CD226	HGNC:16961	MGI:3039602	-	-	no	no	no	no	NA
CD24	HGNC:1645	MGI:88323	ORPHA:802	Non Rare In Europe: Multiple Sclerosis	no	no	no	no	NA
CD244	HGNC:18171	MGI:109294	OMIM:180300	Rheumatoid Arthritis	no	no	no	no	NA
CD247	HGNC:1677	MGI:88334	OMIM:610163|ORPHA:169160|ORPHA:85410|ORPHA:85408	Immunodeficiency 25|T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta|Oligoarticular Juvenile Idiopathic Arthritis|Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	no	no	no	no	NA
CD248	HGNC:18219	MGI:1917695	-	-	yes	no	no	no	NA
CD27	HGNC:11922	MGI:88326	OMIM:615122|ORPHA:238505	Lymphoproliferative Syndrome 2|Combined Immunodeficiency Due To Cd27 Deficiency	yes	yes	yes	yes	37.11
CD274	HGNC:17635	MGI:1926446	-	-	no	no	no	no	NA
CD276	HGNC:19137	MGI:2183926	-	-	yes	no	no	no	NA
CD28	HGNC:1653	MGI:88327	ORPHA:2584|ORPHA:3162	Classic Mycosis Fungoides|Sézary Syndrome	yes	yes	yes	yes	35.125
CD2AP	HGNC:14258	MGI:1330281	OMIM:607832|ORPHA:656	Focal Segmental Glomerulosclerosis 3, Susceptibility To|Genetic Steroid-Resistant Nephrotic Syndrome	yes	yes	yes	no	NA
CD2BP2	HGNC:1656	MGI:1917483	-	-	no	no	no	no	NA
CD300A	HGNC:19319	MGI:2443411	-	-	yes	no	no	no	NA
CD300E	HGNC:28874	MGI:2387602	-	-	yes	no	no	no	NA
CD300LB	HGNC:30811	MGI:2685099	-	-	no	no	no	no	NA
CD300LF	HGNC:29883	MGI:2442359	-	-	no	no	no	no	NA
CD300LG	HGNC:30455	MGI:1289168	-	-	yes	no	no	no	NA
CD302	HGNC:30843	MGI:1913455	-	-	no	no	no	no	NA
CD320	HGNC:16692	MGI:1860083	OMIM:613646|ORPHA:280183	Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect|Methylmalonic Aciduria Due To Transcobalamin Receptor Defect	yes	yes	yes	no	NA
CD33	HGNC:1659	MGI:99440	-	-	yes	no	no	no	NA
CD34	HGNC:1662	MGI:88329	-	-	no	no	no	no	NA
CD36	HGNC:1663	MGI:107899	OMIM:608404|OMIM:610938|OMIM:611162	Platelet Glycoprotein Iv Deficiency|Coronary Heart Disease, Susceptibility To, 7|Malaria, Susceptibility To	yes	yes	yes	yes	27.49
CD37	HGNC:1666	MGI:88330	-	-	no	no	no	no	NA
CD38	HGNC:1667	MGI:107474	-	-	yes	no	no	no	NA
CD3D	HGNC:1673	MGI:88331	OMIM:615617|ORPHA:169160	Immunodeficiency 19|T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	no	no	no	no	NA
CD3E	HGNC:1674	MGI:88332	OMIM:615615|ORPHA:169160	Immunodeficiency 18|T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	no	no	no	no	NA
CD3G	HGNC:1675	MGI:88333	OMIM:615607|ORPHA:169082	Immunodeficiency 17|Combined Immunodeficiency Due To Cd3Gamma Deficiency	no	no	no	no	NA
CD4	HGNC:1678	MGI:88335	OMIM:619238|OMIM:613949	Immunodeficiency 79|Okt4 Epitope Deficiency	no	no	no	no	NA
CD40	HGNC:11919	MGI:88336	OMIM:606843|ORPHA:101090	Immunodeficiency With Hyper-Igm, Type 3|Hyper-Igm Syndrome Type 3	yes	no	yes	no	NA
CD40LG	HGNC:11935	MGI:88337	OMIM:308230|ORPHA:101088	Immunodeficiency With Hyper-Igm, Type 1|X-Linked Hyper-Igm Syndrome	no	no	no	no	NA
CD44	HGNC:1681	MGI:88338	OMIM:609027	Blood Group, Indian System	no	no	no	no	NA
CD46	HGNC:6953	MGI:1203290	OMIM:612922|ORPHA:244242|ORPHA:544472	Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2|Hellp Syndrome|Atypical Hemolytic Uremic Syndrome With Complement Gene Abnormality	yes	no	yes	no	NA
CD47	HGNC:1682	MGI:96617	-	-	no	no	no	no	NA
CD48	HGNC:1683	MGI:88339	-	-	no	no	no	no	NA
CD5	HGNC:1685	MGI:88340	-	-	yes	no	no	no	NA
CD52	HGNC:1804	MGI:1346088	-	-	no	no	no	no	NA
CD53	HGNC:1686	MGI:88341	-	-	no	no	no	no	NA
CD5L	HGNC:1690	MGI:1334419	-	-	yes	no	no	no	NA
CD6	HGNC:1691	MGI:103566	-	-	no	no	no	no	NA
CD63	HGNC:1692	MGI:99529	-	-	no	no	no	no	NA
CD68	HGNC:1693	MGI:88342	-	-	yes	no	no	no	NA
CD69	HGNC:1694	MGI:88343	-	-	no	no	no	no	NA
CD7	HGNC:1695	MGI:88344	-	-	yes	no	no	no	NA
CD70	HGNC:11937	MGI:1195273	OMIM:618261|ORPHA:538958	Lymphoproliferative Syndrome 3|Combined Immunodeficiency Due To Cd70 Deficiency	no	no	no	no	NA
CD72	HGNC:1696	MGI:88345	-	-	no	no	no	no	NA
CD74	HGNC:1697	MGI:96534	-	-	yes	no	no	no	NA
CD79A	HGNC:1698	MGI:101774	OMIM:613501|ORPHA:33110	Agammaglobulinemia 3, Autosomal Recessive|Autosomal Agammaglobulinemia	yes	no	yes	no	NA
CD79B	HGNC:1699	MGI:96431	OMIM:612692|ORPHA:33110	Agammaglobulinemia 6, Autosomal Recessive|Autosomal Agammaglobulinemia	no	no	no	no	NA
CD80	HGNC:1700	MGI:101775	-	-	no	no	no	no	NA
CD81	HGNC:1701	MGI:1096398	OMIM:613496|ORPHA:1572	Immunodeficiency, Common Variable, 6|Common Variable Immunodeficiency	no	no	no	no	NA
CD82	HGNC:6210	MGI:104651	-	-	no	no	no	no	NA
CD83	HGNC:1703	MGI:1328316	-	-	yes	no	no	no	NA
CD84	HGNC:1704	MGI:1336885	-	-	yes	no	no	no	NA
CD86	HGNC:1705	MGI:101773	-	-	no	no	no	no	NA
CD8A	HGNC:1706	MGI:88346	OMIM:608957|ORPHA:169085	Cd8 Deficiency, Familial|Susceptibility To Respiratory Infections Associated With Cd8Alpha Chain Mutation	no	no	no	no	NA
CD9	HGNC:1709	MGI:88348	-	-	yes	no	no	no	NA
CD93	HGNC:15855	MGI:106664	-	-	no	no	no	no	NA
CD96	HGNC:16892	MGI:1934368	OMIM:211750|ORPHA:1308	C Syndrome	yes	yes	yes	no	NA
CD99L2	HGNC:18237	MGI:2177151	-	-	no	no	no	no	NA
CDA	HGNC:1712	MGI:1919519	-	-	no	no	no	no	NA
CDADC1	HGNC:20299	MGI:1919141	-	-	no	no	no	no	NA
CDAN1	HGNC:1713	MGI:1916218	OMIM:224120|ORPHA:98869	Anemia, Congenital Dyserythropoietic, Type Ia|Congenital Dyserythropoietic Anemia Type I	yes	yes	yes	yes	37.605
CDC123	HGNC:16827	MGI:2138811	-	-	yes	no	no	no	NA
CDC14A	HGNC:1718	MGI:2442676	OMIM:608653|ORPHA:90636	Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	yes	yes	yes	no	NA
CDC16	HGNC:1720	MGI:1917207	-	-	yes	no	no	no	NA
CDC20	HGNC:1723	MGI:1859866	OMIM:620276	Oocyte/Zygote/Embryo Maturation Arrest 14	yes	yes	yes	no	NA
CDC20B	HGNC:24222	MGI:3644472	-	-	yes	no	no	no	NA
CDC23	HGNC:1724	MGI:1098815	-	-	yes	no	no	no	NA
CDC25A	HGNC:1725	MGI:103198	-	-	no	no	no	no	NA
CDC25B	HGNC:1726	MGI:99701	-	-	no	no	no	no	NA
CDC25C	HGNC:1727	MGI:88350	-	-	no	no	no	no	NA
CDC26	HGNC:17839	MGI:1913690	-	-	yes	no	no	no	NA
CDC27	HGNC:1728	MGI:102685	-	-	yes	no	no	no	NA
CDC37	HGNC:1735	MGI:109531	-	-	yes	no	no	no	NA
CDC37L1	HGNC:17179	MGI:1914322	-	-	yes	no	no	no	NA
CDC40	HGNC:17350	MGI:1918963	OMIM:619302	Pontocerebellar Hypoplasia, Type 15	yes	yes	yes	no	NA
CDC42	HGNC:1736	MGI:106211	OMIM:616737|ORPHA:487796|ORPHA:619363	Takenouchi-Kosaki Syndrome|Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome|Neonatal-Onset Severe Multisystemic Autoinflammatory Disease With Increased Il18	yes	yes	yes	yes	28.985
CDC42BPA	HGNC:1737	MGI:2441841	-	-	no	no	no	no	NA
CDC42BPB	HGNC:1738	MGI:2136459	OMIM:619841	Chilton-Okur-Chung Neurodevelopmental Syndrome	yes	yes	yes	yes	16.74
CDC42BPG	HGNC:29829	MGI:2652845	-	-	yes	no	no	no	NA
CDC42EP1	HGNC:17014	MGI:1929763	-	-	no	no	no	no	NA
CDC42EP2	HGNC:16263	MGI:1929744	-	-	no	no	no	no	NA
CDC42EP3	HGNC:16943	MGI:2384718	-	-	yes	no	no	no	NA
CDC42EP4	HGNC:17147	MGI:1929760	-	-	no	no	no	no	NA
CDC42EP5	HGNC:17408	MGI:1929745	-	-	yes	no	no	no	NA
CDC42SE1	HGNC:17719	MGI:1889510	-	-	no	no	no	no	NA
CDC42SE2	HGNC:18547	MGI:1919979	-	-	no	no	no	no	NA
CDC45	HGNC:1739	MGI:1338073	OMIM:617063|ORPHA:2554	Meier-Gorlin Syndrome 7|Ear-Patella-Short Stature Syndrome	yes	yes	yes	yes	23.395
CDC5L	HGNC:1743	MGI:1918952	-	-	yes	no	no	no	NA
CDC6	HGNC:1744	MGI:1345150	OMIM:613805|ORPHA:2554	Meier-Gorlin Syndrome 5|Ear-Patella-Short Stature Syndrome	yes	no	yes	no	NA
CDC7	HGNC:1745	MGI:1309511	-	-	yes	no	no	no	NA
CDC73	HGNC:16783	MGI:2384876	OMIM:145000|OMIM:145001|OMIM:608266|ORPHA:143|ORPHA:99879|ORPHA:99880	Hyperparathyroidism 1|Hyperparathyroidism 2 With Jaw Tumors|Parathyroid Carcinoma|Familial Isolated Hyperparathyroidism|Hyperparathyroidism-Jaw Tumor Syndrome	no	no	no	no	NA
CDCA2	HGNC:14623	MGI:1919787	-	-	no	no	no	no	NA
CDCA3	HGNC:14624	MGI:1315198	-	-	no	no	no	no	NA
CDCA4	HGNC:14625	MGI:1919213	-	-	no	no	no	no	NA
CDCA5	HGNC:14626	MGI:1915099	-	-	yes	no	no	no	NA
CDCA7	HGNC:14628	MGI:1914203	OMIM:616910|ORPHA:2268	Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3|Icf Syndrome	no	no	no	no	NA
CDCA7L	HGNC:30777	MGI:2384982	-	-	yes	no	no	no	NA
CDCA8	HGNC:14629	MGI:1196274	-	-	yes	no	no	no	NA
CDCP1	HGNC:24357	MGI:2442010	-	-	no	no	no	no	NA
CDCP2	HGNC:27297	MGI:3045328	-	-	yes	no	no	no	NA
CDH1	HGNC:1748	MGI:88354	OMIM:119580|OMIM:114480|OMIM:137215|OMIM:608089|OMIM:167000|OMIM:176807|ORPHA:199306|ORPHA:1331|ORPHA:1997|ORPHA:227535|ORPHA:26106	Blepharocheilodontic Syndrome 1|Breast Cancer|Diffuse Gastric And Lobular Breast Cancer Syndrome|Endometrial Cancer|Ovarian Cancer|Prostate Cancer|Cleft Lip/Palate|Familial Prostate Cancer|Blepharo-Cheilo-Odontic Syndrome|Hereditary Breast Cancer|Hereditary Diffuse Gastric Cancer	yes	yes	yes	no	NA
CDH10	HGNC:1749	MGI:107436	-	-	yes	no	no	no	NA
CDH11	HGNC:1750	MGI:99217	OMIM:211380|OMIM:619736|ORPHA:1299	Elsahy-Waters Syndrome|Teebi Hypertelorism Syndrome 2|Branchioskeletogenital Syndrome	yes	yes	yes	yes	41.55
CDH12	HGNC:1751	MGI:109503	-	-	yes	no	no	no	NA
CDH13	HGNC:1753	MGI:99551	-	-	yes	no	no	no	NA
CDH15	HGNC:1754	MGI:106672	OMIM:612580|ORPHA:178469	Intellectual Developmental Disorder, Autosomal Dominant 3|Autosomal Dominant Non-Syndromic Intellectual Disability	no	no	no	no	NA
CDH16	HGNC:1755	MGI:106671	-	-	no	no	no	no	NA
CDH17	HGNC:1756	MGI:1095414	-	-	no	no	no	no	NA
CDH18	HGNC:1757	MGI:1344366	-	-	yes	no	no	no	NA
CDH19	HGNC:1758	MGI:3588198	-	-	yes	no	no	no	NA
CDH2	HGNC:1759	MGI:88355	OMIM:619957|OMIM:618929|OMIM:618920|ORPHA:293910	Attention Deficit-Hyperactivity Disorder 8|Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome|Arrhythmogenic Right Ventricular Dysplasia, Familial, 14|Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form	no	no	no	no	NA
CDH20	HGNC:1760	MGI:1346069	-	-	yes	no	no	no	NA
CDH22	HGNC:13251	MGI:1341843	-	-	no	no	no	no	NA
CDH23	HGNC:13733	MGI:1890219	OMIM:601386|OMIM:601067|OMIM:617540|ORPHA:2965|ORPHA:231169|ORPHA:314777|ORPHA:90636|ORPHA:91347|ORPHA:96253	Deafness, Autosomal Recessive 12|Usher Syndrome, Type Id|Pituitary Adenoma 5, Multiple Types|Prolactinoma|Usher Syndrome Type 1|Familial Isolated Pituitary Adenoma|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb|Tsh-Secreting Pituitary Adenoma|Cushing Disease	yes	yes	yes	yes	35.385
CDH24	HGNC:14265	MGI:1928330	-	-	no	no	no	no	NA
CDH26	HGNC:15902	MGI:2685856	-	-	yes	no	no	no	NA
CDH3	HGNC:1762	MGI:88356	OMIM:225280|OMIM:601553|ORPHA:1573|ORPHA:1897	Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome|Hypotrichosis, Congenital, With Juvenile Macular Dystrophy|Hypotrichosis With Juvenile Macular Degeneration|Eem Syndrome	no	no	no	no	NA
CDH4	HGNC:1763	MGI:99218	-	-	yes	no	no	no	NA
CDH5	HGNC:1764	MGI:105057	-	-	no	no	no	no	NA
CDH6	HGNC:1765	MGI:107435	-	-	no	no	no	no	NA
CDH7	HGNC:1766	MGI:2442792	-	-	yes	no	no	no	NA
CDH8	HGNC:1767	MGI:107434	-	-	no	no	no	no	NA
CDH9	HGNC:1768	MGI:107433	-	-	yes	no	no	no	NA
CDHR1	HGNC:14550	MGI:2157782	OMIM:613660|ORPHA:791|ORPHA:1872	Cone-Rod Dystrophy 15|Retinitis Pigmentosa|Cone Rod Dystrophy	no	no	no	no	NA
CDHR2	HGNC:18231	MGI:2687323	-	-	no	no	no	no	NA
CDHR3	HGNC:26308	MGI:1916014	-	-	no	no	no	no	NA
CDHR4	HGNC:34527	MGI:1916648	-	-	no	no	no	no	NA
CDHR5	HGNC:7521	MGI:1919290	-	-	no	no	no	no	NA
CDIN1	HGNC:26929	MGI:3026886	OMIM:615631|ORPHA:98869	Anemia, Congenital Dyserythropoietic, Type Ib|Congenital Dyserythropoietic Anemia Type I	yes	yes	yes	no	NA
CDIP1	HGNC:13234	MGI:1913876	-	-	yes	no	no	no	NA
CDIPT	HGNC:1769	MGI:105491	-	-	yes	no	no	no	NA
CDK1	HGNC:1722	MGI:88351	-	-	no	no	no	no	NA
CDK10	HGNC:1770	MGI:2448549	OMIM:617694	Al Kaissi Syndrome	no	no	no	no	NA
CDK12	HGNC:24224	MGI:1098802	-	-	yes	no	no	no	NA
CDK13	HGNC:1733	MGI:1916812	OMIM:617360|ORPHA:646278	Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder|Cdk13-Related Congenital Heart Defects-Intellectual Disability-Facial Dysmorphism Syndrome	yes	yes	yes	no	NA
CDK14	HGNC:8883	MGI:894318	-	-	yes	no	no	no	NA
CDK15	HGNC:14434	MGI:3583944	-	-	yes	no	no	no	NA
CDK16	HGNC:8749	MGI:97516	-	-	no	no	no	no	NA
CDK17	HGNC:8750	MGI:97517	-	-	yes	no	no	no	NA
CDK18	HGNC:8751	MGI:97518	-	-	yes	no	no	no	NA
CDK19	HGNC:19338	MGI:1925584	OMIM:618916|ORPHA:442835	Developmental And Epileptic Encephalopathy 87|Non-Specific Early-Onset Epileptic Encephalopathy	yes	yes	yes	no	NA
CDK2	HGNC:1771	MGI:104772	-	-	no	no	no	no	NA
CDK20	HGNC:21420	MGI:2145349	-	-	yes	no	no	no	NA
CDK2AP1	HGNC:14002	MGI:1202069	-	-	no	no	no	no	NA
CDK2AP2	HGNC:30833	MGI:1098779	-	-	yes	no	no	no	NA
CDK4	HGNC:1773	MGI:88357	OMIM:609048|ORPHA:618|ORPHA:99971|ORPHA:99970	Melanoma, Cutaneous Malignant, Susceptibility To, 3|Familial Melanoma|Well-Differentiated Liposarcoma|Dedifferentiated Liposarcoma	yes	yes	yes	no	NA
CDK5	HGNC:1774	MGI:101765	OMIM:616342	Lissencephaly 7 With Cerebellar Hypoplasia	no	no	no	no	NA
CDK5R1	HGNC:1775	MGI:101764	-	-	no	no	no	no	NA
CDK5R2	HGNC:1776	MGI:1330828	-	-	no	no	no	no	NA
CDK5RAP1	HGNC:15880	MGI:1914221	-	-	no	no	no	no	NA
CDK5RAP2	HGNC:18672	MGI:2384875	OMIM:604804|ORPHA:2512	Microcephaly 3, Primary, Autosomal Recessive|Autosomal Recessive Primary Microcephaly	yes	yes	yes	yes	33.505
CDK5RAP3	HGNC:18673	MGI:1933126	-	-	yes	no	no	no	NA
CDK6	HGNC:1777	MGI:1277162	OMIM:616080|ORPHA:2512	Microcephaly 12, Primary, Autosomal Recessive|Autosomal Recessive Primary Microcephaly	yes	yes	yes	no	NA
CDK7	HGNC:1778	MGI:102956	-	-	no	no	no	no	NA
CDK8	HGNC:1779	MGI:1196224	OMIM:618748	Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	yes	yes	yes	yes	25.97
CDK9	HGNC:1780	MGI:1328368	-	-	yes	no	no	no	NA
CDKAL1	HGNC:21050	MGI:1921765	-	-	yes	no	no	no	NA
CDKL1	HGNC:1781	MGI:1918341	-	-	no	no	no	no	NA
CDKL2	HGNC:1782	MGI:1858227	-	-	yes	no	no	no	NA
CDKL3	HGNC:15483	MGI:2388268	-	-	no	no	no	no	NA
CDKL4	HGNC:19287	MGI:3587025	-	-	yes	no	no	no	NA
CDKL5	HGNC:11411	MGI:1278336	OMIM:300672|ORPHA:1934|ORPHA:3451|ORPHA:3095|ORPHA:505652	Developmental And Epileptic Encephalopathy 2|Early Infantile Epileptic Encephalopathy|Infantile Spasms Syndrome|Atypical Rett Syndrome|Cdkl5-Deficiency Disorder	yes	yes	yes	no	NA
CDKN1A	HGNC:1784	MGI:104556	ORPHA:652	Multiple Endocrine Neoplasia Type 1	yes	yes	yes	yes	24.14
CDKN1B	HGNC:1785	MGI:104565	OMIM:610755|ORPHA:652|ORPHA:276152	Multiple Endocrine Neoplasia, Type Iv|Multiple Endocrine Neoplasia Type 1|Multiple Endocrine Neoplasia Type 4	yes	yes	yes	yes	38.035
CDKN1C	HGNC:1786	MGI:104564	OMIM:130650|OMIM:614732|ORPHA:231120|ORPHA:397590|ORPHA:436144|ORPHA:85173	Beckwith-Wiedemann Syndrome|Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies|Beckwith-Wiedemann Syndrome Due To Cdkn1C Mutation|Silver-Russell Syndrome Due To A Point Mutation|Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome|Image Syndrome	yes	yes	yes	yes	28.785
CDKN2AIP	HGNC:24325	MGI:1918175	-	-	yes	no	no	no	NA
CDKN2AIPNL	HGNC:30545	MGI:1261797	-	-	yes	no	no	no	NA
CDKN2B	HGNC:1788	MGI:104737	ORPHA:652|ORPHA:618	Multiple Endocrine Neoplasia Type 1|Familial Melanoma	no	no	no	no	NA
CDKN2C	HGNC:1789	MGI:105388	ORPHA:652	Multiple Endocrine Neoplasia Type 1	no	no	no	no	NA
CDKN2D	HGNC:1790	MGI:105387	-	-	no	no	no	no	NA
CDKN3	HGNC:1791	MGI:1919641	-	-	yes	no	no	no	NA
CDNF	HGNC:24913	MGI:3606576	-	-	no	no	no	no	NA
CDO1	HGNC:1795	MGI:105925	-	-	no	no	no	no	NA
CDON	HGNC:17104	MGI:1926387	OMIM:614226|ORPHA:280200|ORPHA:280195|ORPHA:220386|ORPHA:95496|ORPHA:93926|ORPHA:93924|ORPHA:93925	Holoprosencephaly 11|Microform Holoprosencephaly|Septopreoptic Holoprosencephaly|Semilobar Holoprosencephaly|Pituitary Stalk Interruption Syndrome|Midline Interhemispheric Variant Of Holoprosencephaly|Lobar Holoprosencephaly|Alobar Holoprosencephaly	yes	yes	yes	no	NA
CDPF1	HGNC:33710	MGI:1919605	-	-	no	no	no	no	NA
CDR2	HGNC:1799	MGI:1100885	-	-	no	no	no	no	NA
CDR2L	HGNC:29999	MGI:2684867	-	-	no	no	no	no	NA
CDRT4	HGNC:14383	MGI:1913588	-	-	yes	no	no	no	NA
CDS1	HGNC:1800	MGI:1921846	-	-	yes	no	no	no	NA
CDS2	HGNC:1801	MGI:1332236	-	-	yes	no	no	no	NA
CDSN	HGNC:1802	MGI:3505689	OMIM:146520|OMIM:270300|ORPHA:263553|ORPHA:90368	Hypotrichosis 2|Peeling Skin Syndrome 1|Peeling Skin Syndrome Type B|Hypotrichosis Simplex Of The Scalp	yes	yes	yes	yes	17.095
CDT1	HGNC:24576	MGI:1914427	OMIM:613804|ORPHA:2554	Meier-Gorlin Syndrome 4|Ear-Patella-Short Stature Syndrome	no	no	no	no	NA
CDV3	HGNC:26928	MGI:2448759	-	-	no	no	no	no	NA
CDX1	HGNC:1805	MGI:88360	-	-	no	no	no	no	NA
CDX2	HGNC:1806	MGI:88361	-	-	no	no	no	no	NA
CDX4	HGNC:1808	MGI:88362	-	-	no	no	no	no	NA
CDYL	HGNC:1811	MGI:1339956	-	-	yes	no	no	no	NA
CDYL2	HGNC:23030	MGI:1923046	-	-	yes	no	no	no	NA
CEACAM16	HGNC:31948	MGI:2685615	OMIM:614614|OMIM:618410|ORPHA:90635|ORPHA:90636	Deafness, Autosomal Dominant 4B|Deafness, Autosomal Recessive 113|Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	yes	yes	yes	no	NA
CEACAM18	HGNC:31949	MGI:1919681	-	-	no	no	no	no	NA
CEACAM19	HGNC:31951	MGI:2443001	-	-	no	no	no	no	NA
CEACAM20	HGNC:24879	MGI:1918851	-	-	no	no	no	no	NA
CEACAM21	HGNC:28834	MGI:2141810	-	-	yes	no	no	no	NA
CEBPA	HGNC:1833	MGI:99480	OMIM:601626|ORPHA:319480|ORPHA:319465|ORPHA:102724	Leukemia, Acute Myeloid|Acute Myeloid Leukemia With Cebpa Somatic Mutations|Inherited Acute Myeloid Leukemia|Acute Myeloid Leukemia With T(8;21)(Q22;Q22) Translocation	no	no	no	no	NA
CEBPB	HGNC:1834	MGI:88373	-	-	no	no	no	no	NA
CEBPD	HGNC:1835	MGI:103573	-	-	no	no	no	no	NA
CEBPE	HGNC:1836	MGI:103572	OMIM:260570|OMIM:245480|ORPHA:169142|ORPHA:566067	Immunodeficiency 108 With Autoinflammation|Specific Granule Deficiency 1|Recurrent Infection Due To Specific Granule Deficiency|Cebpe-Associated Autoinflammation-Immunodeficiency-Neutrophil Dysfunction Syndrome	no	no	no	no	NA
CEBPG	HGNC:1837	MGI:104982	-	-	no	no	no	no	NA
CEBPZ	HGNC:24218	MGI:109386	-	-	yes	no	no	no	NA
CEBPZOS	HGNC:49288	MGI:1915804	-	-	no	no	no	no	NA
CECR2	HGNC:1840	MGI:1923799	-	-	yes	no	no	no	NA
CEL	HGNC:1848	MGI:88374	OMIM:609812|ORPHA:552	Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction|Mody	no	no	no	no	NA
CELA1	HGNC:3308	MGI:95314	-	-	yes	no	no	no	NA
CELF1	HGNC:2549	MGI:1342295	-	-	yes	no	no	no	NA
CELF2	HGNC:2550	MGI:1338822	OMIM:619561|ORPHA:442835	Developmental And Epileptic Encephalopathy 97|Non-Specific Early-Onset Epileptic Encephalopathy	yes	yes	yes	no	NA
CELF3	HGNC:11967	MGI:1926034	-	-	no	no	no	no	NA
CELF4	HGNC:14015	MGI:1932407	-	-	yes	no	no	no	NA
CELF5	HGNC:14058	MGI:2442333	-	-	yes	no	no	no	NA
CELF6	HGNC:14059	MGI:1923433	-	-	yes	no	no	no	NA
CELSR1	HGNC:1850	MGI:1100883	OMIM:619319	Lymphatic Malformation 9	yes	yes	yes	yes	30.46
CELSR2	HGNC:3231	MGI:1858235	-	-	no	no	no	no	NA
CELSR3	HGNC:3230	MGI:1858236	-	-	no	no	no	no	NA
CEMIP	HGNC:29213	MGI:2443629	-	-	no	no	no	no	NA
CEMIP2	HGNC:11869	MGI:1890373	-	-	no	no	no	no	NA
CENATAC	HGNC:30460	MGI:2685960	OMIM:620153	Mosaic Variegated Aneuploidy Syndrome 4	no	no	no	no	NA
CEND1	HGNC:24153	MGI:1929898	-	-	no	no	no	no	NA
CENPA	HGNC:1851	MGI:88375	-	-	no	no	no	no	NA
CENPB	HGNC:1852	MGI:88376	-	-	no	no	no	no	NA
CENPC	HGNC:1854	MGI:99700	-	-	no	no	no	no	NA
CENPE	HGNC:1856	MGI:1098230	OMIM:616051|ORPHA:2512|ORPHA:808	Microcephaly 13, Primary, Autosomal Recessive|Autosomal Recessive Primary Microcephaly|Seckel Syndrome	yes	yes	yes	no	NA
CENPF	HGNC:1857	MGI:1313302	OMIM:243605|ORPHA:444069|ORPHA:506307	Stromme Syndrome|Lethal Fetal Brain Malformation-Duodenal Atresia-Bilateral Renal Hypoplasia Syndrome	no	no	no	no	NA
CENPH	HGNC:17268	MGI:1349448	-	-	yes	no	no	no	NA
CENPI	HGNC:3968	MGI:2147897	-	-	no	no	no	no	NA
CENPJ	HGNC:17272	MGI:2684927	OMIM:613676|OMIM:608393|ORPHA:2512|ORPHA:808	Seckel Syndrome 4|Microcephaly 6, Primary, Autosomal Recessive|Autosomal Recessive Primary Microcephaly|Seckel Syndrome	yes	yes	yes	yes	44.305
CENPK	HGNC:29479	MGI:1926210	-	-	no	no	no	no	NA
CENPL	HGNC:17879	MGI:1917704	-	-	yes	no	no	no	NA
CENPM	HGNC:18352	MGI:1913820	-	-	no	no	no	no	NA
CENPN	HGNC:30873	MGI:1919405	-	-	no	no	no	no	NA
CENPO	HGNC:28152	MGI:1923800	-	-	yes	no	no	no	NA
CENPP	HGNC:32933	MGI:1913586	ORPHA:90635	Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	no	no	no	no	NA
CENPQ	HGNC:21347	MGI:1933744	-	-	no	no	no	no	NA
CENPS	HGNC:23163	MGI:1917178	-	-	yes	no	no	no	NA
CENPT	HGNC:25787	MGI:2443939	OMIM:618702	Short Stature And Microcephaly With Genital Anomalies	yes	yes	yes	no	NA
CENPU	HGNC:21348	MGI:1919126	-	-	no	no	no	no	NA
CENPV	HGNC:29920	MGI:1920389	-	-	yes	no	no	no	NA
CENPW	HGNC:21488	MGI:1913561	-	-	no	no	no	no	NA
CENPX	HGNC:11422	MGI:894324	-	-	yes	no	no	no	NA
CEP104	HGNC:24866	MGI:2687282	OMIM:619988|OMIM:616781|ORPHA:475	Intellectual Developmental Disorder, Autosomal Recessive 77|Joubert Syndrome 25|Joubert Syndrome	no	no	no	no	NA
CEP112	HGNC:28514	MGI:1923673	OMIM:619044	Spermatogenic Failure 44	no	no	no	no	NA
CEP120	HGNC:26690	MGI:2147298	OMIM:617761|OMIM:616300|ORPHA:474|ORPHA:475|ORPHA:220493	Joubert Syndrome 31|Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly|Jeune Syndrome|Joubert Syndrome|Joubert Syndrome With Ocular Defect	yes	no	yes	no	NA
CEP126	HGNC:29264	MGI:2680221	ORPHA:65684	Monomelic Amyotrophy	yes	yes	yes	no	NA
CEP128	HGNC:20359	MGI:1922466	-	-	yes	no	no	no	NA
CEP131	HGNC:29511	MGI:107440	-	-	no	no	no	no	NA
CEP135	HGNC:29086	MGI:2681869	OMIM:614673|ORPHA:2512	Microcephaly 8, Primary, Autosomal Recessive|Autosomal Recessive Primary Microcephaly	yes	yes	yes	yes	33.17
CEP15	HGNC:25024	MGI:1917937	-	-	yes	no	no	no	NA
CEP152	HGNC:29298	MGI:2139083	OMIM:614852|OMIM:613823|ORPHA:2512|ORPHA:808	Microcephaly 9, Primary, Autosomal Recessive|Seckel Syndrome 5|Autosomal Recessive Primary Microcephaly|Seckel Syndrome	no	no	no	no	NA
CEP162	HGNC:21107	MGI:1925343	-	-	yes	no	no	no	NA
CEP164	HGNC:29182	MGI:2384878	OMIM:614845|ORPHA:3156	Nephronophthisis 15|Senior-Loken Syndrome	yes	yes	yes	no	NA
CEP170	HGNC:28920	MGI:1918348	-	-	no	no	no	no	NA
CEP170B	HGNC:20362	MGI:2145043	-	-	yes	no	no	no	NA
CEP19	HGNC:28209	MGI:1914244	OMIM:615703|ORPHA:110|ORPHA:397615	Morbid Obesity And Spermatogenic Failure|Bardet-Biedl Syndrome|Obesity Due To Cep19 Deficiency	yes	yes	yes	yes	36.755
CEP192	HGNC:25515	MGI:1918049	-	-	yes	no	no	no	NA
CEP20	HGNC:26435	MGI:1913336	-	-	no	no	no	no	NA
CEP250	HGNC:1859	MGI:108084	OMIM:618358	Cone-Rod Dystrophy And Hearing Loss 2	yes	yes	yes	yes	25.675
CEP290	HGNC:29021	MGI:2384917	OMIM:615991|OMIM:610188|OMIM:611755|OMIM:611134|OMIM:610189|ORPHA:564|ORPHA:2318|ORPHA:3156|ORPHA:65|ORPHA:110	Bardet-Biedl Syndrome 14|Joubert Syndrome 5|Leber Congenital Amaurosis 10|Meckel Syndrome, Type 4|Senior-Loken Syndrome 6|Meckel Syndrome|Joubert Syndrome With Oculorenal Defect|Senior-Loken Syndrome|Leber Congenital Amaurosis|Bardet-Biedl Syndrome	yes	yes	yes	yes	30.95
CEP295	HGNC:29366	MGI:2442521	-	-	yes	no	no	no	NA
CEP295NL	HGNC:44659	MGI:1929713	-	-	yes	no	no	no	NA
CEP350	HGNC:24238	MGI:1921331	-	-	yes	no	no	no	NA
CEP41	HGNC:12370	MGI:1891414	OMIM:614464|ORPHA:475|ORPHA:220493	Joubert Syndrome 15|Joubert Syndrome|Joubert Syndrome With Ocular Defect	yes	yes	yes	no	NA
CEP43	HGNC:17012	MGI:1922546	-	-	yes	no	no	no	NA
CEP44	HGNC:29356	MGI:3525111	-	-	no	no	no	no	NA
CEP55	HGNC:1161	MGI:1921357	OMIM:236500|ORPHA:500135	Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly|Multinucleated Neurons-Anhydramnios-Renal Dysplasia-Cerebellar Hypoplasia-Hydranencephaly Syndrome	yes	yes	yes	yes	35.97
CEP57	HGNC:30794	MGI:1915551	OMIM:614114|ORPHA:1052	Mosaic Variegated Aneuploidy Syndrome 2|Mosaic Variegated Aneuploidy Syndrome	no	no	no	no	NA
CEP57L1	HGNC:21561	MGI:1915511	-	-	yes	no	no	no	NA
CEP63	HGNC:25815	MGI:2158560	OMIM:614728|ORPHA:2512	Seckel Syndrome 6|Autosomal Recessive Primary Microcephaly	no	no	no	no	NA
CEP68	HGNC:29076	MGI:2667663	-	-	yes	no	no	no	NA
CEP70	HGNC:29972	MGI:1915371	-	-	yes	no	no	no	NA
CEP72	HGNC:25547	MGI:1921720	-	-	yes	no	no	no	NA
CEP76	HGNC:25727	MGI:1923401	-	-	yes	no	no	no	NA
CEP78	HGNC:25740	MGI:1924386	OMIM:617236|ORPHA:231183	Cone-Rod Dystrophy And Hearing Loss 1|Usher Syndrome Type 3	yes	yes	yes	no	NA
CEP83	HGNC:17966	MGI:1924298	OMIM:615862|ORPHA:93591	Nephronophthisis 18|Infantile Nephronophthisis	yes	yes	yes	no	NA
CEP85	HGNC:25309	MGI:1917262	-	-	no	no	no	no	NA
CEP85L	HGNC:21638	MGI:3642684	OMIM:618873|ORPHA:572013	Lissencephaly 10|Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	yes	yes	yes	yes	39.535
CEP89	HGNC:25907	MGI:1919390	-	-	no	no	no	no	NA
CEP95	HGNC:25141	MGI:2443502	-	-	yes	no	no	no	NA
CEP97	HGNC:26244	MGI:1921451	-	-	yes	no	no	no	NA
CEPT1	HGNC:24289	MGI:2139793	-	-	no	no	no	no	NA
CER1	HGNC:1862	MGI:1201414	-	-	yes	no	no	no	NA
CERCAM	HGNC:23723	MGI:2139134	-	-	yes	no	no	no	NA
CERK	HGNC:19256	MGI:2386052	-	-	no	no	no	no	NA
CERKL	HGNC:21699	MGI:3037816	OMIM:608380|ORPHA:791	Retinitis Pigmentosa 26|Retinitis Pigmentosa	yes	yes	yes	no	NA
CERS1	HGNC:14253	MGI:2136690	OMIM:616230|ORPHA:424027	Epilepsy, Progressive Myoclonic, 8|Progressive Myoclonic Epilepsy Type 8	yes	yes	yes	no	NA
CERS2	HGNC:14076	MGI:1924143	-	-	no	no	no	no	NA
CERS3	HGNC:23752	MGI:2681008	OMIM:615023|ORPHA:363992|ORPHA:79394	Ichthyosis, Congenital, Autosomal Recessive 9|Ichthyosis-Short Stature-Brachydactyly-Microspherophakia Syndrome|Congenital Ichthyosiform Erythroderma	no	no	no	no	NA
CERS4	HGNC:23747	MGI:1914510	-	-	no	no	no	no	NA
CERS5	HGNC:23749	MGI:1919199	-	-	yes	no	no	no	NA
CERS6	HGNC:23826	MGI:2442564	-	-	no	no	no	no	NA
CERT1	HGNC:2205	MGI:1915268	OMIM:616351	Intellectual Developmental Disorder, Autosomal Dominant 34	yes	yes	yes	no	NA
CES4A	HGNC:26741	MGI:2384581	-	-	yes	no	no	no	NA
CES5A	HGNC:26459	MGI:1915185	-	-	yes	no	no	no	NA
CETN1	HGNC:1866	MGI:1347086	-	-	no	no	no	no	NA
CETN2	HGNC:1867	MGI:1347085	-	-	no	no	no	no	NA
CETN3	HGNC:1868	MGI:1097706	-	-	no	no	no	no	NA
CFAP100	HGNC:26842	MGI:2141635	-	-	no	no	no	no	NA
CFAP107	HGNC:28567	MGI:1916614	-	-	yes	no	no	no	NA
CFAP119	HGNC:28078	MGI:2685012	-	-	yes	no	no	no	NA
CFAP126	HGNC:32325	MGI:1922722	-	-	no	no	no	no	NA
CFAP141	HGNC:32305	MGI:1920795	-	-	no	no	no	no	NA
CFAP144	HGNC:34347	MGI:1922679	-	-	no	no	no	no	NA
CFAP157	HGNC:27843	MGI:2447809	-	-	no	no	no	no	NA
CFAP161	HGNC:26782	MGI:1922806	-	-	yes	no	no	no	NA
CFAP184	HGNC:26900	MGI:1913967	-	-	no	no	no	no	NA
CFAP20	HGNC:29523	MGI:107428	-	-	no	no	no	no	NA
CFAP206	HGNC:21405	MGI:1916579	-	-	yes	no	no	no	NA
CFAP20DC	HGNC:24763	MGI:1926154	-	-	yes	no	no	no	NA
CFAP210	HGNC:25064	MGI:1923100	-	-	no	no	no	no	NA
CFAP221	HGNC:33720	MGI:2684947	ORPHA:244	Primary Ciliary Dyskinesia	no	no	no	no	NA
CFAP251	HGNC:28506	MGI:1918495	OMIM:618152|ORPHA:276234	Spermatogenic Failure 33|Non-Syndromic Male Infertility Due To Sperm Motility Disorder	no	no	no	no	NA
CFAP263	HGNC:25002	MGI:3606076	-	-	no	no	no	no	NA
CFAP276	HGNC:32331	MGI:1922754	-	-	no	no	no	no	NA
CFAP298	HGNC:1301	MGI:1915251	OMIM:615500|ORPHA:244	Ciliary Dyskinesia, Primary, 26|Primary Ciliary Dyskinesia	no	no	no	no	NA
CFAP299	HGNC:28554	MGI:1916571	-	-	yes	no	no	no	NA
CFAP300	HGNC:28188	MGI:3045346	OMIM:618063|ORPHA:244	Ciliary Dyskinesia, Primary, 38|Primary Ciliary Dyskinesia	yes	yes	yes	no	NA
CFAP36	HGNC:30540	MGI:1913994	-	-	yes	no	no	no	NA
CFAP410	HGNC:1260	MGI:1915134	OMIM:617547|OMIM:602271|ORPHA:803|ORPHA:1872	Retinal Dystrophy With Or Without Macular Staphyloma|Spondylometaphyseal Dysplasia, Axial|Amyotrophic Lateral Sclerosis|Cone Rod Dystrophy	yes	no	yes	no	NA
CFAP418	HGNC:27232	MGI:1914407	OMIM:617406|OMIM:614500|ORPHA:791|ORPHA:1872|ORPHA:110	Bardet-Biedl Syndrome 21|Cone-Rod Dystrophy 16|Retinitis Pigmentosa|Cone Rod Dystrophy|Bardet-Biedl Syndrome	yes	yes	yes	no	NA
CFAP43	HGNC:26684	MGI:1289258	OMIM:236690|OMIM:617592|ORPHA:276234	Hydrocephalus, Normal-Pressure, 1|Spermatogenic Failure 19|Non-Syndromic Male Infertility Due To Sperm Motility Disorder	no	no	no	no	NA
CFAP44	HGNC:25631	MGI:1277238	OMIM:617593|ORPHA:276234	Spermatogenic Failure 20|Non-Syndromic Male Infertility Due To Sperm Motility Disorder	yes	yes	yes	yes	75.565
CFAP45	HGNC:17229	MGI:1919120	OMIM:619608	Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	yes	no	yes	no	NA
CFAP46	HGNC:25247	MGI:2444387	-	-	yes	no	no	no	NA
CFAP47	HGNC:26708	MGI:3781475	OMIM:301059|ORPHA:137893	Spermatogenic Failure, X-Linked, 3|Male Infertility Due To Large-Headed Multiflagellar Polyploid Spermatozoa	no	no	no	no	NA
CFAP52	HGNC:16053	MGI:1919110	OMIM:619607|ORPHA:101063	Heterotaxy, Visceral, 10, Autosomal, With Male Infertility|Situs Inversus Totalis	no	no	no	no	NA
CFAP53	HGNC:26530	MGI:1921703	OMIM:614779|ORPHA:157769|ORPHA:101063	Heterotaxy, Visceral, 6, Autosomal|Situs Ambiguus|Situs Inversus Totalis	yes	yes	yes	no	NA
CFAP54	HGNC:26456	MGI:1922208	-	-	no	no	no	no	NA
CFAP57	HGNC:26485	MGI:2686209	-	-	yes	no	no	no	NA
CFAP58	HGNC:26676	MGI:2685815	OMIM:619144	Spermatogenic Failure 49	yes	no	yes	no	NA
CFAP61	HGNC:15872	MGI:1926024	OMIM:620409|ORPHA:137893	Spermatogenic Failure 84|Male Infertility Due To Large-Headed Multiflagellar Polyploid Spermatozoa	yes	yes	yes	no	NA
CFAP65	HGNC:25325	MGI:2444274	OMIM:618664|ORPHA:276234	Spermatogenic Failure 40|Non-Syndromic Male Infertility Due To Sperm Motility Disorder	yes	no	yes	no	NA
CFAP68	HGNC:1163	MGI:1915971	-	-	yes	no	no	no	NA
CFAP69	HGNC:26107	MGI:2443778	OMIM:617959|ORPHA:276234	Spermatogenic Failure 24|Non-Syndromic Male Infertility Due To Sperm Motility Disorder	yes	yes	yes	yes	34.87
CFAP70	HGNC:30726	MGI:1923920	OMIM:618670|ORPHA:276234	Spermatogenic Failure 41|Non-Syndromic Male Infertility Due To Sperm Motility Disorder	no	no	no	no	NA
CFAP73	HGNC:37100	MGI:3779542	-	-	no	no	no	no	NA
CFAP74	HGNC:29368	MGI:1917130	OMIM:620197|ORPHA:244	Ciliary Dyskinesia, Primary, 49, Without Situs Inversus|Primary Ciliary Dyskinesia	no	no	no	no	NA
CFAP77	HGNC:33776	MGI:2685669	-	-	no	no	no	no	NA
CFAP90	HGNC:27028	MGI:1916565	-	-	no	no	no	no	NA
CFAP91	HGNC:24010	MGI:2443598	OMIM:619177	Spermatogenic Failure 51	yes	yes	yes	yes	49.355
CFAP92	HGNC:29231	MGI:3586838	-	-	no	no	no	no	NA
CFAP95	HGNC:31422	MGI:1914733	-	-	no	no	no	no	NA
CFAP96	HGNC:34346	MGI:1916729	-	-	no	no	no	no	NA
CFAP97	HGNC:29276	MGI:1914006	-	-	no	no	no	no	NA
CFAP97D1	HGNC:37241	MGI:1922687	-	-	yes	no	no	no	NA
CFAP99	HGNC:51180	MGI:5434801	-	-	no	no	no	no	NA
CFB	HGNC:1037	MGI:105975	OMIM:615561|OMIM:612924|OMIM:615489|ORPHA:279|ORPHA:544472	Complement Factor B Deficiency|Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4|Macular Degeneration, Age-Related, 14|Non Rare In Europe: Age-Related Macular Degeneration|Atypical Hemolytic Uremic Syndrome With Complement Gene Abnormality	yes	yes	yes	yes	45.58
CFD	HGNC:2771	MGI:87931	OMIM:613912|ORPHA:169467	Complement Factor D Deficiency|Recurrent Neisseria Infections Due To Factor D Deficiency	yes	yes	yes	no	NA
CFDP1	HGNC:1873	MGI:1344403	-	-	yes	no	no	no	NA
CFH	HGNC:4883	MGI:88385	OMIM:126700|OMIM:609814|OMIM:235400|OMIM:610698|ORPHA:200421|ORPHA:244242|ORPHA:244275|ORPHA:279|ORPHA:329903|ORPHA:75376|ORPHA:544472|ORPHA:93571	Basal Laminar Drusen|Complement Factor H Deficiency|Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1|Macular Degeneration, Age-Related, 4|Immunodeficiency With Factor H Anomaly|Hellp Syndrome|De Novo Thrombotic Microangiopathy After Kidney Transplantation|Non Rare In Europe: Age-Related Macular Degeneration|Immunoglobulin-Mediated Membranoproliferative Glomerulonephritis|Familial Drusen|Atypical Hemolytic Uremic Syndrome With Complement Gene Abnormality|Dense Deposit Disease	yes	yes	yes	yes	38.625
CFI	HGNC:5394	MGI:105937	OMIM:610984|OMIM:612923|OMIM:615439|ORPHA:200418|ORPHA:244242|ORPHA:244275|ORPHA:279|ORPHA:75376|ORPHA:544472	Complement Factor I Deficiency|Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3|Macular Degeneration, Age-Related, 13|Immunodeficiency With Factor I Anomaly|Hellp Syndrome|De Novo Thrombotic Microangiopathy After Kidney Transplantation|Non Rare In Europe: Age-Related Macular Degeneration|Familial Drusen|Atypical Hemolytic Uremic Syndrome With Complement Gene Abnormality	yes	yes	yes	yes	50.825
CFL1	HGNC:1874	MGI:101757	-	-	no	no	no	no	NA
CFL2	HGNC:1875	MGI:101763	OMIM:610687|ORPHA:171436	Nemaline Myopathy 7|Typical Nemaline Myopathy	no	no	no	no	NA
CFLAR	HGNC:1876	MGI:1336166	-	-	yes	no	no	no	NA
CFP	HGNC:8864	MGI:97545	OMIM:312060|ORPHA:2966	Properdin Deficiency, X-Linked|Properdin Deficiency	no	no	no	no	NA
CFTR	HGNC:1884	MGI:88388	OMIM:211400|OMIM:277180|OMIM:219700|OMIM:167800|ORPHA:586|ORPHA:676|ORPHA:48|ORPHA:399805|ORPHA:498359|ORPHA:60033	Bronchiectasis With Or Without Elevated Sweat Chloride 1|Vas Deferens, Congenital Bilateral Aplasia Of|Cystic Fibrosis|Pancreatitis, Hereditary|Hereditary Chronic Pancreatitis|Congenital Bilateral Absence Of Vas Deferens|Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation|Aquagenic Palmoplantar Keratoderma|Idiopathic Bronchiectasis	no	no	no	no	NA
CGA	HGNC:1885	MGI:88390	-	-	no	no	no	no	NA
CGAS	HGNC:21367	MGI:2442261	-	-	yes	no	no	no	NA
CGGBP1	HGNC:1888	MGI:2146370	-	-	no	no	no	no	NA
CGN	HGNC:17429	MGI:1927237	-	-	yes	no	no	no	NA
CGNL1	HGNC:25931	MGI:1915428	-	-	yes	no	no	no	NA
CGREF1	HGNC:16962	MGI:1915817	-	-	yes	no	no	no	NA
CGRRF1	HGNC:15528	MGI:1916368	-	-	yes	no	no	no	NA
CH25H	HGNC:1907	MGI:1333869	-	-	yes	no	no	no	NA
CHAC1	HGNC:28680	MGI:1916315	-	-	yes	no	no	no	NA
CHAC2	HGNC:32363	MGI:1915294	-	-	no	no	no	no	NA
CHAD	HGNC:1909	MGI:1096866	-	-	no	no	no	no	NA
CHADL	HGNC:25165	MGI:3036284	-	-	no	no	no	no	NA
CHAF1A	HGNC:1910	MGI:1351331	-	-	no	no	no	no	NA
CHAF1B	HGNC:1911	MGI:1314881	-	-	yes	no	no	no	NA
CHAMP1	HGNC:20311	MGI:1196398	OMIM:616579|ORPHA:178469	Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features|Autosomal Dominant Non-Syndromic Intellectual Disability	yes	yes	yes	yes	22.815
CHAT	HGNC:1912	MGI:88392	OMIM:254210|ORPHA:98914	Myasthenic Syndrome, Congenital, 6, Presynaptic|Presynaptic Congenital Myasthenic Syndromes	no	no	no	no	NA
CHCHD1	HGNC:23518	MGI:1913371	-	-	yes	no	no	no	NA
CHCHD10	HGNC:15559	MGI:2143558	OMIM:616209|OMIM:615911|OMIM:615048|ORPHA:803|ORPHA:275872|ORPHA:276435|ORPHA:457050	Myopathy, Isolated Mitochondrial, Autosomal Dominant|Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2|Spinal Muscular Atrophy, Jokela Type|Amyotrophic Lateral Sclerosis|Frontotemporal Dementia With Motor Neuron Disease|Lower Motor Neuron Syndrome With Late-Adult Onset|Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	yes	yes	yes	yes	33.255
CHCHD2	HGNC:21645	MGI:1261428	OMIM:616710	Parkinson Disease 22, Autosomal Dominant	yes	yes	yes	no	NA
CHCHD3	HGNC:21906	MGI:1913325	-	-	no	no	no	no	NA
CHCHD4	HGNC:26467	MGI:1919420	-	-	no	no	no	no	NA
CHCHD5	HGNC:17840	MGI:1913420	-	-	yes	no	no	no	NA
CHCHD6	HGNC:28184	MGI:1913348	-	-	yes	no	no	no	NA
CHCHD7	HGNC:28314	MGI:1913683	-	-	yes	no	no	no	NA
CHCT1	HGNC:26990	MGI:1920884	-	-	yes	no	no	no	NA
CHD1	HGNC:1915	MGI:88393	OMIM:617682|ORPHA:529965	Pilarowski-Bjornsson Syndrome|Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	yes	yes	yes	no	NA
CHD1L	HGNC:1916	MGI:1915308	-	-	yes	no	no	no	NA
CHD2	HGNC:1917	MGI:2448567	OMIM:615369|ORPHA:2382|ORPHA:1942	Developmental And Epileptic Encephalopathy 94|Lennox-Gastaut Syndrome|Myoclonic-Astatic Epilepsy	yes	yes	yes	yes	19.855
CHD3	HGNC:1918	MGI:1344395	OMIM:618205|ORPHA:599082	Snijders Blok-Campeau Syndrome|Chd3-Related Developmental Delay-Speech Delay-Intellectual Disability-Abnormalities Of Vision-Facial Dysmorphism Syndrome	yes	yes	yes	yes	37.59
CHD4	HGNC:1919	MGI:1344380	OMIM:617159	Sifrim-Hitz-Weiss Syndrome	yes	yes	yes	no	NA
CHD5	HGNC:16816	MGI:3036258	OMIM:619873|ORPHA:528084	Parenti-Mignot Neurodevelopmental Syndrome|Non-Specific Syndromic Intellectual Disability	yes	yes	yes	no	NA
CHD6	HGNC:19057	MGI:1918639	-	-	yes	no	no	no	NA
CHD7	HGNC:20626	MGI:2444748	OMIM:214800|OMIM:612370|ORPHA:138|ORPHA:478|ORPHA:432|ORPHA:39041	Charge Syndrome|Hypogonadotropic Hypogonadism 5 With Or Without Anosmia|Kallmann Syndrome|Normosmic Congenital Hypogonadotropic Hypogonadism|Omenn Syndrome	yes	yes	yes	yes	30.615
CHD8	HGNC:20153	MGI:1915022	OMIM:615032|ORPHA:106|ORPHA:261229|ORPHA:642675	Intellectual Developmental Disorder With Autism And Macrocephaly|Non Rare In Europe: Autism|14Q11.2 Microduplication Syndrome|Chd8 Overgrowth Syndrome	yes	yes	yes	no	NA
CHD9	HGNC:25701	MGI:1924001	-	-	yes	no	no	no	NA
CHDH	HGNC:24288	MGI:1860776	-	-	yes	no	no	no	NA
CHEK1	HGNC:1925	MGI:1202065	-	-	no	no	no	no	NA
CHEK2	HGNC:16627	MGI:1355321	OMIM:259500|OMIM:176807|OMIM:609265|ORPHA:524|ORPHA:1331|ORPHA:145|ORPHA:668	Osteogenic Sarcoma|Prostate Cancer|Tumor Predisposition Syndrome 4|Li-Fraumeni Syndrome|Familial Prostate Cancer|Hereditary Breast And/Or Ovarian Cancer Syndrome|Osteosarcoma	yes	no	yes	no	NA
CHERP	HGNC:16930	MGI:106417	-	-	yes	no	no	no	NA
CHFR	HGNC:20455	MGI:2444898	-	-	no	no	no	no	NA
CHGA	HGNC:1929	MGI:88394	-	-	no	no	no	no	NA
CHGB	HGNC:1930	MGI:88395	-	-	no	no	no	no	NA
CHI3L1	HGNC:1932	MGI:1340899	OMIM:181500|OMIM:611960	Schizophrenia|Asthma-Related Traits, Susceptibility To, 7	no	no	no	no	NA
CHIC1	HGNC:1934	MGI:1344694	-	-	no	no	no	no	NA
CHIC2	HGNC:1935	MGI:1921527	OMIM:601626	Leukemia, Acute Myeloid	yes	yes	yes	yes	15.175
CHID1	HGNC:28474	MGI:1915288	-	-	no	no	no	no	NA
CHIT1	HGNC:1936	MGI:1919134	OMIM:614122	Chitotriosidase Deficiency	no	no	no	no	NA
CHKA	HGNC:1937	MGI:107760	OMIM:620023|ORPHA:88616	Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures|Autosomal Recessive Non-Syndromic Intellectual Disability	yes	yes	yes	no	NA
CHKB	HGNC:1938	MGI:1328313	OMIM:602541|ORPHA:280671|ORPHA:521305	Muscular Dystrophy, Congenital, Megaconial Type|Megaconial Congenital Muscular Dystrophy|Proximal Myopathy With Focal Depletion Of Mitochondria	yes	yes	yes	no	NA
CHL1	HGNC:1939	MGI:1098266	-	-	no	no	no	no	NA
CHM	HGNC:1940	MGI:892979	OMIM:303100|ORPHA:180	Choroideremia	no	no	no	no	NA
CHML	HGNC:1941	MGI:101913	-	-	no	no	no	no	NA
CHMP1A	HGNC:8740	MGI:1920159	OMIM:614961|ORPHA:324569	Pontocerebellar Hypoplasia, Type 8|Pontocerebellar Hypoplasia Type 8	no	no	no	no	NA
CHMP1B	HGNC:24287	MGI:1914314	-	-	yes	no	no	no	NA
CHMP2A	HGNC:30216	MGI:1916203	-	-	no	no	no	no	NA
CHMP2B	HGNC:24537	MGI:1916192	OMIM:600795|ORPHA:803|ORPHA:275864|ORPHA:100069|ORPHA:100070	Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7|Amyotrophic Lateral Sclerosis|Behavioral Variant Of Frontotemporal Dementia|Semantic Dementia|Progressive Non-Fluent Aphasia	yes	yes	yes	yes	13.585
CHMP3	HGNC:29865	MGI:1913950	-	-	yes	no	no	no	NA
CHMP4B	HGNC:16171	MGI:1922858	OMIM:605387|ORPHA:441447|ORPHA:98993	Cataract 31, Multiple Types|Early-Onset Posterior Subcapsular Cataract|Early-Onset Posterior Polar Cataract	no	no	no	no	NA
CHMP4C	HGNC:30599	MGI:1913621	-	-	yes	no	no	no	NA
CHMP5	HGNC:26942	MGI:1924209	-	-	no	no	no	no	NA
CHMP6	HGNC:25675	MGI:3583942	-	-	yes	no	no	no	NA
CHMP7	HGNC:28439	MGI:1913922	-	-	yes	no	no	no	NA
CHN1	HGNC:1943	MGI:1915674	OMIM:604356|ORPHA:233	Duane Retraction Syndrome 2|Duane Retraction Syndrome	yes	yes	yes	yes	11.595
CHN2	HGNC:1944	MGI:1917243	-	-	no	no	no	no	NA
CHODL	HGNC:17807	MGI:2179069	-	-	yes	no	no	no	NA
CHORDC1	HGNC:14525	MGI:1914167	-	-	yes	no	no	no	NA
CHP1	HGNC:17433	MGI:1927185	OMIM:618438	Spastic Ataxia 9, Autosomal Recessive	yes	yes	yes	yes	21.175
CHP2	HGNC:24927	MGI:1917511	-	-	yes	no	no	no	NA
CHPF	HGNC:24291	MGI:106576	-	-	yes	no	no	no	NA
CHPF2	HGNC:29270	MGI:1917522	-	-	no	no	no	no	NA
CHPT1	HGNC:17852	MGI:2384841	-	-	yes	no	no	no	NA
CHRAC1	HGNC:13544	MGI:2135796	-	-	yes	no	no	no	NA
CHRD	HGNC:1949	MGI:1313268	-	-	no	no	no	no	NA
CHRDL1	HGNC:29861	MGI:1933172	OMIM:309300|ORPHA:91489	Megalocornea|Isolated Congenital Megalocornea	yes	yes	yes	no	NA
CHRDL2	HGNC:24168	MGI:1916371	-	-	no	no	no	no	NA
CHRM1	HGNC:1950	MGI:88396	-	-	no	no	no	no	NA
CHRM2	HGNC:1951	MGI:88397	-	-	no	no	no	no	NA
CHRM3	HGNC:1952	MGI:88398	OMIM:100100|ORPHA:2970	Prune Belly Syndrome	no	no	no	no	NA
CHRM4	HGNC:1953	MGI:88399	-	-	yes	no	no	no	NA
CHRM5	HGNC:1954	MGI:109248	-	-	no	no	no	no	NA
CHRNA1	HGNC:1955	MGI:87885	OMIM:253290|OMIM:601462|OMIM:608930|ORPHA:33108|ORPHA:98913	Multiple Pterygium Syndrome, Lethal Type|Myasthenic Syndrome, Congenital, 1A, Slow-Channel|Myasthenic Syndrome, Congenital, 1B, Fast-Channel|Lethal Multiple Pterygium Syndrome|Postsynaptic Congenital Myasthenic Syndromes	yes	yes	yes	no	NA
CHRNA10	HGNC:13800	MGI:3609260	-	-	yes	no	no	no	NA
CHRNA2	HGNC:1956	MGI:87886	OMIM:610353|ORPHA:98784	Epilepsy, Nocturnal Frontal Lobe, 4|Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	yes	yes	yes	yes	12.795
CHRNA3	HGNC:1957	MGI:87887	OMIM:191800|OMIM:612052	Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut|Smoking As A Quantitative Trait Locus 3	no	no	no	no	NA
CHRNA4	HGNC:1958	MGI:87888	OMIM:600513|OMIM:188890|ORPHA:98784	Epilepsy, Nocturnal Frontal Lobe, 1|Tobacco Addiction, Susceptibility To|Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	no	no	no	no	NA
CHRNA5	HGNC:1959	MGI:87889	OMIM:612052	Smoking As A Quantitative Trait Locus 3	yes	yes	no	no	NA
CHRNA6	HGNC:15963	MGI:106213	-	-	no	no	no	no	NA
CHRNA9	HGNC:14079	MGI:1202403	-	-	yes	no	no	no	NA
CHRNB1	HGNC:1961	MGI:87890	OMIM:616314|OMIM:616313|ORPHA:98913	Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency|Myasthenic Syndrome, Congenital, 2A, Slow-Channel|Postsynaptic Congenital Myasthenic Syndromes	no	no	no	no	NA
CHRNB2	HGNC:1962	MGI:87891	OMIM:605375|ORPHA:98784	Epilepsy, Nocturnal Frontal Lobe, 3|Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	yes	yes	yes	no	NA
CHRNB3	HGNC:1963	MGI:106212	-	-	no	no	no	no	NA
CHRNB4	HGNC:1964	MGI:87892	-	-	yes	no	no	no	NA
CHRND	HGNC:1965	MGI:87893	OMIM:616321|OMIM:616323|OMIM:253290|OMIM:616322|ORPHA:33108|ORPHA:98913	Myasthenic Syndrome, Congenital, 3A, Slow-Channel|Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency|Multiple Pterygium Syndrome, Lethal Type|Myasthenic Syndrome, Congenital, 3B, Fast-Channel|Lethal Multiple Pterygium Syndrome|Postsynaptic Congenital Myasthenic Syndromes	yes	yes	yes	yes	31.74
CHRNE	HGNC:1966	MGI:87894	OMIM:605809|OMIM:616324|OMIM:608931|ORPHA:98913	Myasthenic Syndrome, Congenital, 4A, Slow-Channel|Myasthenic Syndrome, Congenital, 4B, Fast-Channel|Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency|Postsynaptic Congenital Myasthenic Syndromes	no	no	no	no	NA
CHRNG	HGNC:1967	MGI:87895	OMIM:265000|OMIM:253290|ORPHA:2990|ORPHA:33108	Multiple Pterygium Syndrome, Escobar Variant|Multiple Pterygium Syndrome, Lethal Type|Autosomal Recessive Multiple Pterygium Syndrome|Lethal Multiple Pterygium Syndrome	no	no	no	no	NA
CHST1	HGNC:1969	MGI:1924219	-	-	no	no	no	no	NA
CHST10	HGNC:19650	MGI:2138283	-	-	yes	no	no	no	NA
CHST11	HGNC:17422	MGI:1927166	OMIM:618167	Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	yes	yes	yes	no	NA
CHST12	HGNC:17423	MGI:1929064	-	-	yes	no	no	no	NA
CHST13	HGNC:21755	MGI:1919047	-	-	no	no	no	no	NA
CHST14	HGNC:24464	MGI:1919386	OMIM:601776|ORPHA:2953	Ehlers-Danlos Syndrome, Musculocontractural Type, 1|Musculocontractural Ehlers-Danlos Syndrome	yes	yes	yes	no	NA
CHST15	HGNC:18137	MGI:1924840	-	-	no	no	no	no	NA
CHST2	HGNC:1970	MGI:1891160	-	-	yes	no	no	no	NA
CHST3	HGNC:1971	MGI:1858224	OMIM:143095|ORPHA:263463	Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations|Chst3-Related Skeletal Dysplasia	no	no	no	no	NA
CHST4	HGNC:1972	MGI:1349479	-	-	no	no	no	no	NA
CHST7	HGNC:13817	MGI:1891767	-	-	no	no	no	no	NA
CHST8	HGNC:15993	MGI:1916197	OMIM:616265|ORPHA:263548	Peeling Skin Syndrome 3|Peeling Skin Syndrome Type A	yes	yes	no	no	NA
CHST9	HGNC:19898	MGI:1918617	-	-	no	no	no	no	NA
CHSY1	HGNC:17198	MGI:2681120	OMIM:605282|ORPHA:363417	Temtamy Preaxial Brachydactyly Syndrome	yes	yes	yes	yes	41.285
CHSY3	HGNC:24293	MGI:1926173	-	-	yes	no	no	no	NA
CHTF18	HGNC:18435	MGI:2384887	-	-	yes	no	no	no	NA
CHTF8	HGNC:24353	MGI:2443370	-	-	no	no	no	no	NA
CHTOP	HGNC:24511	MGI:1913761	-	-	yes	no	no	no	NA
CHUK	HGNC:1974	MGI:99484	OMIM:613630|OMIM:619339|ORPHA:465824	Fetal Encasement Syndrome|Bartsocas-Papas Syndrome 2	yes	yes	yes	yes	51.595
CHURC1	HGNC:20099	MGI:1923684	-	-	yes	no	no	no	NA
CIAO1	HGNC:14280	MGI:1346998	-	-	no	no	no	no	NA
CIAO2A	HGNC:26235	MGI:1915500	-	-	yes	no	no	no	NA
CIAO2B	HGNC:24261	MGI:1915773	-	-	yes	no	no	no	NA
CIAO3	HGNC:14179	MGI:1914813	-	-	no	no	no	no	NA
CIAPIN1	HGNC:28050	MGI:1922083	-	-	no	no	no	no	NA
CIART	HGNC:25200	MGI:2684975	-	-	no	no	no	no	NA
CIB1	HGNC:16920	MGI:1344418	OMIM:618267|ORPHA:302	Epidermodysplasia Verruciformis, Susceptibility To, 3|Epidermodysplasia Verruciformis	yes	yes	yes	no	NA
CIB2	HGNC:24579	MGI:1929293	OMIM:609439|OMIM:614869|ORPHA:231169|ORPHA:90636	Deafness, Autosomal Recessive 48|Usher Syndrome, Type Ij|Usher Syndrome Type 1|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	yes	yes	yes	yes	29.885
CIB3	HGNC:24580	MGI:2685953	-	-	yes	no	no	no	NA
CIB4	HGNC:33703	MGI:1920509	-	-	yes	no	no	no	NA
CIBAR1	HGNC:30452	MGI:1915349	OMIM:618219|ORPHA:93334	Polydactyly, Postaxial, Type A9|Postaxial Polydactyly Type A	yes	yes	yes	yes	30.235
CIBAR2	HGNC:24781	MGI:3588213	-	-	no	no	no	no	NA
CIC	HGNC:14214	MGI:1918972	OMIM:617600|ORPHA:178469	Intellectual Developmental Disorder, Autosomal Dominant 45|Autosomal Dominant Non-Syndromic Intellectual Disability	no	no	no	no	NA
CIDEA	HGNC:1976	MGI:1270845	-	-	yes	no	no	no	NA
CIDEB	HGNC:1977	MGI:1270844	-	-	no	no	no	no	NA
CIDEC	HGNC:24229	MGI:95585	OMIM:615238|ORPHA:435651	Lipodystrophy, Familial Partial, Type 5|Cidec-Related Familial Partial Lipodystrophy	yes	yes	yes	yes	43.655
CIITA	HGNC:7067	MGI:108445	OMIM:209920|OMIM:180300|ORPHA:572	Bare Lymphocyte Syndrome, Type Ii|Rheumatoid Arthritis|Immunodeficiency By Defective Expression Of Mhc Class Ii	no	no	no	no	NA
CILK1	HGNC:21219	MGI:1934157	OMIM:612651|OMIM:617924|ORPHA:307|ORPHA:199332	Endocrine-Cerebroosteodysplasia|Epilepsy, Juvenile Myoclonic, Susceptibility To, 10|Juvenile Myoclonic Epilepsy|Endocrine-Cerebro-Osteodysplasia Syndrome	yes	yes	yes	yes	16.87
CILP	HGNC:1980	MGI:2444507	OMIM:603932	Intervertebral Disc Disease	yes	yes	no	no	NA
CILP2	HGNC:24213	MGI:1915959	-	-	yes	no	no	no	NA
CIMAP1A	HGNC:19905	MGI:1916537	-	-	no	no	no	no	NA
CIMAP1B	HGNC:34388	MGI:1917363	-	-	yes	no	no	no	NA
CIMAP1C	HGNC:28735	MGI:2681875	-	-	no	no	no	no	NA
CIMAP1D	HGNC:26841	MGI:2686003	-	-	yes	no	no	no	NA
CIMAP2	HGNC:26854	MGI:2681853	-	-	no	no	no	no	NA
CIMAP3	HGNC:27009	MGI:1923670	-	-	no	no	no	no	NA
CIMIP1	HGNC:16216	MGI:1919471	-	-	yes	no	no	no	NA
CIMIP2A	HGNC:33818	MGI:3605773	-	-	yes	no	no	no	NA
CIMIP2B	HGNC:34242	MGI:2445194	-	-	yes	no	no	no	NA
CIMIP2C	HGNC:27938	MGI:1922684	-	-	yes	no	no	no	NA
CIMIP3	HGNC:55126	MGI:1922712	-	-	no	no	no	no	NA
CIMIP4	HGNC:28568	MGI:1920626	-	-	no	no	no	no	NA
CINP	HGNC:23789	MGI:1914486	-	-	yes	no	no	no	NA
CIP2A	HGNC:29302	MGI:2146335	-	-	no	no	no	no	NA
CIPC	HGNC:20365	MGI:1919185	-	-	no	no	no	no	NA
CIR1	HGNC:24217	MGI:1914185	-	-	yes	no	no	no	NA
CIRBP	HGNC:1982	MGI:893588	-	-	no	no	no	no	NA
CIROP	HGNC:53647	MGI:5588935	OMIM:619702	Heterotaxy, Visceral, 12, Autosomal	no	no	no	no	NA
CISD1	HGNC:30880	MGI:1261855	-	-	yes	no	no	no	NA
CISD2	HGNC:24212	MGI:1914256	OMIM:604928|ORPHA:3463	Wolfram Syndrome 2|Wolfram Syndrome	yes	yes	yes	yes	31.37
CISD3	HGNC:27578	MGI:101788	-	-	no	no	no	no	NA
CISH	HGNC:1984	MGI:103159	OMIM:614383|OMIM:611162|OMIM:607948	Bacteremia, Susceptibility To, 2|Malaria, Susceptibility To|Mycobacterium Tuberculosis, Susceptibility To	yes	yes	no	no	NA
CIT	HGNC:1985	MGI:105313	OMIM:617090|ORPHA:2512	Microcephaly 17, Primary, Autosomal Recessive|Autosomal Recessive Primary Microcephaly	yes	yes	yes	no	NA
CITED1	HGNC:1986	MGI:108023	-	-	no	no	no	no	NA
CITED2	HGNC:1987	MGI:1306784	OMIM:614433|OMIM:614431|ORPHA:3303|ORPHA:1480|ORPHA:99105|ORPHA:99103|ORPHA:101063	Atrial Septal Defect 8|Ventricular Septal Defect 2|Tetralogy Of Fallot|Non Rare In Europe: Ventricular Septal Defect|Atrial Septal Defect, Sinus Venosus Type|Atrial Septal Defect, Ostium Secundum Type|Situs Inversus Totalis	no	no	no	no	NA
CITED4	HGNC:18696	MGI:1861694	-	-	yes	no	no	no	NA
CIZ1	HGNC:16744	MGI:1920234	ORPHA:420492	Adult-Onset Cervical Dystonia, Dyt23 Type	no	no	no	no	NA
CKAP2	HGNC:1990	MGI:1931797	-	-	no	no	no	no	NA
CKAP2L	HGNC:26877	MGI:1917716	OMIM:272440|ORPHA:3255	Filippi Syndrome	yes	no	yes	no	NA
CKAP4	HGNC:16991	MGI:2444926	-	-	yes	no	no	no	NA
CKAP5	HGNC:28959	MGI:1923036	-	-	yes	no	no	no	NA
CKB	HGNC:1991	MGI:88407	-	-	yes	no	no	no	NA
CKLF	HGNC:13253	MGI:1922708	-	-	no	no	no	no	NA
CKM	HGNC:1994	MGI:88413	-	-	no	no	no	no	NA
CKMT2	HGNC:1996	MGI:1923972	-	-	no	no	no	no	NA
CKS1B	HGNC:19083	MGI:1889208	-	-	no	no	no	no	NA
CKS2	HGNC:2000	MGI:1913447	-	-	no	no	no	no	NA
CLASP1	HGNC:17088	MGI:1923957	-	-	yes	no	no	no	NA
CLASP2	HGNC:17078	MGI:1923749	-	-	no	no	no	no	NA
CLASRP	HGNC:17731	MGI:1855695	-	-	no	no	no	no	NA
CLBA1	HGNC:20126	MGI:2443738	-	-	no	no	no	no	NA
CLCA1	HGNC:2015	MGI:1346342	-	-	yes	no	no	no	NA
CLCA2	HGNC:2016	MGI:2139758	-	-	yes	no	no	no	NA
CLCC1	HGNC:29675	MGI:2385186	OMIM:609913	Retinitis Pigmentosa 32	yes	yes	yes	no	NA
CLCF1	HGNC:17412	MGI:1930088	OMIM:610313|ORPHA:157820|ORPHA:1545	Crisponi/Cold-Induced Sweating Syndrome 2|Cold-Induced Sweating Syndrome|Crisponi Syndrome	yes	yes	yes	yes	31.275
CLCN1	HGNC:2019	MGI:88417	OMIM:160800|OMIM:255700|ORPHA:614	Myotonia Congenita, Autosomal Dominant|Myotonia Congenita, Autosomal Recessive|Thomsen And Becker Disease	yes	yes	yes	yes	20.805
CLCN2	HGNC:2020	MGI:105061	OMIM:605635|OMIM:615651|OMIM:607628|ORPHA:307|ORPHA:363540|ORPHA:404	Hyperaldosteronism, Familial, Type Ii|Leukoencephalopathy With Ataxia|Epilepsy, Idiopathic Generalized, Susceptibility To, 11|Juvenile Myoclonic Epilepsy|Leukoencephalopathy With Mild Cerebellar Ataxia And White Matter Edema|Familial Hyperaldosteronism Type Ii	no	no	no	no	NA
CLCN3	HGNC:2021	MGI:103555	OMIM:619512|OMIM:619517|ORPHA:528084	Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities|Neurodevelopmental Disorder With Seizures And Brain Abnormalities|Non-Specific Syndromic Intellectual Disability	yes	no	yes	no	NA
CLCN4	HGNC:2022	MGI:104571	OMIM:300114|ORPHA:777|ORPHA:485350	Raynaud-Claes Syndrome|X-Linked Non-Syndromic Intellectual Disability|Clcn4-Related X-Linked Intellectual Disability Syndrome	no	no	no	no	NA
CLCN5	HGNC:2023	MGI:99486	OMIM:300009|OMIM:300554|OMIM:310468|OMIM:308990|ORPHA:93622	Dent Disease 1|Hypophosphatemic Rickets, X-Linked Recessive|Nephrolithiasis, X-Linked Recessive, With Renal Failure|Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis|Dent Disease Type 1	no	no	no	no	NA
CLCN6	HGNC:2024	MGI:1347049	OMIM:619173|ORPHA:610573	Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities|Clcn6-Related Childhood-Onset Progressive Neurodegeneration-Peripheral Neuropathy Syndrome	yes	yes	yes	no	NA
CLCN7	HGNC:2025	MGI:1347048	OMIM:618541|OMIM:166600|OMIM:611490|ORPHA:53|ORPHA:667|ORPHA:210110	Hypopigmentation, Organomegaly, And Delayed Myelination And Development|Osteopetrosis, Autosomal Dominant 2|Osteopetrosis,  Autosomal Recessive 4|Albers-Schönberg Osteopetrosis|Autosomal Recessive Malignant Osteopetrosis|Intermediate Osteopetrosis	no	no	no	no	NA
CLDN1	HGNC:2032	MGI:1276109	OMIM:607626|ORPHA:59303	Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis|Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	yes	yes	yes	no	NA
CLDN10	HGNC:2033	MGI:1913101	OMIM:617671|ORPHA:528105	Helix Syndrome|Hypohidrosis-Electrolyte Imbalance-Lacrimal Gland Dysfunction-Ichthyosis-Xerostomia Syndrome	no	no	no	no	NA
CLDN11	HGNC:8514	MGI:106925	OMIM:619328	Leukodystrophy, Hypomyelinating, 22	yes	yes	yes	yes	37.62
CLDN12	HGNC:2034	MGI:1929288	-	-	yes	no	no	no	NA
CLDN14	HGNC:2035	MGI:1860425	OMIM:614035|ORPHA:90636	Deafness, Autosomal Recessive 29|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	no	no	no	no	NA
CLDN15	HGNC:2036	MGI:1913103	-	-	no	no	no	no	NA
CLDN16	HGNC:2037	MGI:2148742	OMIM:248250|ORPHA:31043	Hypomagnesemia 3, Renal|Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis Without Severe Ocular Involvement	yes	yes	yes	yes	35.88
CLDN17	HGNC:2038	MGI:2652030	-	-	no	no	no	no	NA
CLDN18	HGNC:2039	MGI:1929209	-	-	yes	no	no	no	NA
CLDN19	HGNC:2040	MGI:3033992	OMIM:248190|ORPHA:2196	Hypomagnesemia 5, Renal, With Or Without Ocular Involvement|Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	yes	yes	yes	yes	29.01
CLDN2	HGNC:2041	MGI:1276110	OMIM:301060	Azoospermia, Obstructive, With Nephrolithiasis	no	no	no	no	NA
CLDN20	HGNC:2042	MGI:3646757	-	-	no	no	no	no	NA
CLDN23	HGNC:17591	MGI:1919158	-	-	yes	no	no	no	NA
CLDN3	HGNC:2045	MGI:1329044	-	-	yes	no	no	no	NA
CLDN4	HGNC:2046	MGI:1313314	-	-	no	no	no	no	NA
CLDN5	HGNC:2047	MGI:1276112	-	-	no	no	no	no	NA
CLDN6	HGNC:2048	MGI:1859284	-	-	no	no	no	no	NA
CLDN7	HGNC:2049	MGI:1859285	-	-	no	no	no	no	NA
CLDN8	HGNC:2050	MGI:1859286	-	-	no	no	no	no	NA
CLDN9	HGNC:2051	MGI:1913100	OMIM:619093	Deafness, Autosomal Recessive 116	yes	yes	yes	no	NA
CLDND1	HGNC:1322	MGI:2447860	-	-	no	no	no	no	NA
CLDND2	HGNC:28511	MGI:1921526	-	-	yes	no	no	no	NA
CLEC11A	HGNC:10576	MGI:1298219	-	-	no	no	no	no	NA
CLEC12A	HGNC:31713	MGI:3040968	-	-	no	no	no	no	NA
CLEC12B	HGNC:31966	MGI:1918433	-	-	no	no	no	no	NA
CLEC14A	HGNC:19832	MGI:1914114	-	-	no	no	no	no	NA
CLEC16A	HGNC:29013	MGI:1921624	-	-	yes	no	no	no	NA
CLEC1A	HGNC:24355	MGI:2444151	OMIM:614079	Aspergillosis, Susceptibility To	no	no	no	no	NA
CLEC1B	HGNC:24356	MGI:1913287	-	-	no	no	no	no	NA
CLEC2L	HGNC:21969	MGI:2141402	-	-	no	no	no	no	NA
CLEC3A	HGNC:2052	MGI:2685642	-	-	yes	no	no	no	NA
CLEC3B	HGNC:11891	MGI:104540	OMIM:619977	Macular Dystrophy, Retinal, 4	yes	yes	yes	no	NA
CLEC4D	HGNC:14554	MGI:1298389	-	-	no	no	no	no	NA
CLEC4E	HGNC:14555	MGI:1861232	-	-	no	no	no	no	NA
CLEC4F	HGNC:25357	MGI:1859834	-	-	no	no	no	no	NA
CLEC4G	HGNC:24591	MGI:1923113	-	-	no	no	no	no	NA
CLEC5A	HGNC:2054	MGI:1345151	-	-	yes	no	no	no	NA
CLEC6A	HGNC:14556	MGI:1861231	-	-	no	no	no	no	NA
CLEC7A	HGNC:14558	MGI:1861431	OMIM:613108|OMIM:614079|ORPHA:1334	Candidiasis, Familial, 4|Aspergillosis, Susceptibility To|Chronic Mucocutaneous Candidiasis	no	no	no	no	NA
CLEC9A	HGNC:26705	MGI:2444608	-	-	yes	no	no	no	NA
CLGN	HGNC:2060	MGI:107472	-	-	no	no	no	no	NA
CLHC1	HGNC:26453	MGI:1920574	-	-	no	no	no	no	NA
CLIC1	HGNC:2062	MGI:2148924	-	-	no	no	no	no	NA
CLIC3	HGNC:2064	MGI:1916704	-	-	yes	no	no	no	NA
CLIC4	HGNC:13518	MGI:1352754	-	-	no	no	no	no	NA
CLIC5	HGNC:13517	MGI:1917912	OMIM:616042|ORPHA:90636	Deafness, Autosomal Recessive 103|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	yes	yes	yes	yes	36.27
CLIC6	HGNC:2065	MGI:2146607	-	-	yes	no	no	no	NA
CLINT1	HGNC:23186	MGI:2144243	-	-	yes	no	no	no	NA
CLIP1	HGNC:10461	MGI:1928401	ORPHA:88616	Autosomal Recessive Non-Syndromic Intellectual Disability	no	no	no	no	NA
CLIP2	HGNC:2586	MGI:1313136	ORPHA:904	Williams Syndrome	no	no	no	no	NA
CLIP3	HGNC:24314	MGI:1923936	-	-	no	no	no	no	NA
CLIP4	HGNC:26108	MGI:1919100	-	-	no	no	no	no	NA
CLK1	HGNC:2068	MGI:107403	-	-	yes	no	no	no	NA
CLK2	HGNC:2069	MGI:1098669	-	-	yes	no	no	no	NA
CLK3	HGNC:2071	MGI:1098670	-	-	no	no	no	no	NA
CLK4	HGNC:13659	MGI:1098551	-	-	no	no	no	no	NA
CLMN	HGNC:19972	MGI:2136957	-	-	yes	no	no	no	NA
CLMP	HGNC:24039	MGI:1918816	OMIM:615237|ORPHA:2301	Congenital Short Bowel Syndrome	no	no	no	no	NA
CLN3	HGNC:2074	MGI:107537	OMIM:204200|ORPHA:228346	Ceroid Lipofuscinosis, Neuronal, 3|Cln3 Disease	no	no	no	no	NA
CLN5	HGNC:2076	MGI:2442253	OMIM:256731|ORPHA:228360	Ceroid Lipofuscinosis, Neuronal, 5|Cln5 Disease	no	no	no	no	NA
CLN6	HGNC:2077	MGI:2159324	OMIM:601780|OMIM:204300|ORPHA:228363|ORPHA:228340	Ceroid Lipofuscinosis, Neuronal, 6A|Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)|Cln6 Disease|Cln4A Disease	yes	yes	yes	yes	49.48
CLN8	HGNC:2079	MGI:1349447	OMIM:600143|OMIM:610003|ORPHA:1947|ORPHA:228354	Ceroid Lipofuscinosis, Neuronal, 8|Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant|Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type|Cln8 Disease	yes	yes	yes	yes	26.085
CLNK	HGNC:17438	MGI:1351468	-	-	yes	no	no	no	NA
CLNS1A	HGNC:2080	MGI:109638	-	-	no	no	no	no	NA
CLOCK	HGNC:2082	MGI:99698	-	-	yes	no	no	no	NA
CLP1	HGNC:16999	MGI:2138968	OMIM:615803|ORPHA:411493	Pontocerebellar Hypoplasia, Type 10|Pontocerebellar Hypoplasia Type 10	no	no	no	no	NA
CLPB	HGNC:30664	MGI:1100517	OMIM:619835|OMIM:616271|OMIM:619813|ORPHA:486|ORPHA:445038	3-Methylglutaconic Aciduria, Type Viia|3-Methylglutaconic Aciduria, Type Viib|Neutropenia, Severe Congenital, 9, Autosomal Dominant|Autosomal Dominant Severe Congenital Neutropenia|3-Methylglutaconic Aciduria Type 7	no	no	no	no	NA
CLPP	HGNC:2084	MGI:1858213	OMIM:614129|ORPHA:642976|ORPHA:642945	Perrault Syndrome 3|Perrault Syndrome Type 2|Perrault Syndrome Type 1	yes	yes	yes	yes	28.44
CLPS	HGNC:2085	MGI:88421	-	-	yes	no	no	no	NA
CLPSL2	HGNC:21250	MGI:2685595	-	-	yes	no	no	no	NA
CLPTM1	HGNC:2087	MGI:1927155	-	-	yes	no	no	no	NA
CLPTM1L	HGNC:24308	MGI:2442892	-	-	yes	no	no	no	NA
CLPX	HGNC:2088	MGI:1346017	OMIM:618015	Protoporphyria, Erythropoietic, 2	yes	yes	yes	no	NA
CLRN1	HGNC:12605	MGI:2388124	OMIM:614180|OMIM:276902|ORPHA:791|ORPHA:231183	Retinitis Pigmentosa 61|Usher Syndrome, Type Iiia|Retinitis Pigmentosa|Usher Syndrome Type 3	yes	yes	yes	yes	23.02
CLRN2	HGNC:33939	MGI:3646230	OMIM:619174	Deafness, Autosomal Recessive 117	yes	yes	yes	yes	28.995
CLRN3	HGNC:20795	MGI:2142022	-	-	yes	no	no	no	NA
CLSPN	HGNC:19715	MGI:2445153	-	-	yes	no	no	no	NA
CLSTN1	HGNC:17447	MGI:1929895	-	-	yes	no	no	no	NA
CLSTN2	HGNC:17448	MGI:1929897	-	-	yes	no	no	no	NA
CLSTN3	HGNC:18371	MGI:2178323	-	-	yes	no	no	no	NA
CLTA	HGNC:2090	MGI:894297	-	-	no	no	no	no	NA
CLTB	HGNC:2091	MGI:1921575	-	-	no	no	no	no	NA
CLTC	HGNC:2092	MGI:2388633	OMIM:617854|ORPHA:178469|ORPHA:178342|ORPHA:319308|ORPHA:442835	Intellectual Developmental Disorder, Autosomal Dominant 56|Autosomal Dominant Non-Syndromic Intellectual Disability|Inflammatory Myofibroblastic Tumor|Mit Family Translocation Renal Cell Carcinoma|Non-Specific Early-Onset Epileptic Encephalopathy	no	no	no	no	NA
CLTRN	HGNC:29437	MGI:1926234	ORPHA:2116	Hartnup Disease	no	no	no	no	NA
CLU	HGNC:2095	MGI:88423	-	-	yes	no	no	no	NA
CLUAP1	HGNC:19009	MGI:1924029	-	-	yes	no	no	no	NA
CLUH	HGNC:29094	MGI:1921398	-	-	yes	no	no	no	NA
CLVS1	HGNC:23139	MGI:1921688	-	-	yes	no	no	no	NA
CLVS2	HGNC:23046	MGI:2443223	-	-	no	no	no	no	NA
CLXN	HGNC:25678	MGI:1914043	-	-	no	no	no	no	NA
CLYBL	HGNC:18355	MGI:1916884	-	-	yes	no	no	no	NA
CMA1	HGNC:2097	MGI:96941	-	-	no	no	no	no	NA
CMAS	HGNC:18290	MGI:1337124	-	-	yes	no	no	no	NA
CMBL	HGNC:25090	MGI:1916824	-	-	yes	no	no	no	NA
CMC1	HGNC:28783	MGI:1915149	-	-	no	no	no	no	NA
CMC2	HGNC:24447	MGI:1913781	-	-	no	no	no	no	NA
CMC4	HGNC:35428	MGI:5637812	-	-	no	no	no	no	NA
CMIP	HGNC:24319	MGI:1921690	-	-	yes	no	no	no	NA
CMKLR1	HGNC:2121	MGI:109603	-	-	no	no	no	no	NA
CMKLR2	HGNC:4463	MGI:2385324	-	-	yes	no	no	no	NA
CMPK1	HGNC:18170	MGI:1913838	-	-	yes	no	no	no	NA
CMPK2	HGNC:27015	MGI:99830	-	-	yes	no	no	no	NA
CMSS1	HGNC:28666	MGI:1913747	-	-	no	no	no	no	NA
CMTM1	HGNC:19172	MGI:2447159	-	-	no	no	no	no	NA
CMTM3	HGNC:19174	MGI:2447162	-	-	yes	no	no	no	NA
CMTM4	HGNC:19175	MGI:2142888	-	-	yes	no	no	no	NA
CMTM5	HGNC:19176	MGI:2447164	-	-	yes	no	no	no	NA
CMTM6	HGNC:19177	MGI:2447165	-	-	yes	no	no	no	NA
CMTM7	HGNC:19178	MGI:2447166	-	-	yes	no	no	no	NA
CMTM8	HGNC:19179	MGI:2447167	-	-	yes	no	no	no	NA
CMTR1	HGNC:21077	MGI:1921407	-	-	yes	no	no	no	NA
CMTR2	HGNC:25635	MGI:2384580	-	-	yes	no	no	no	NA
CMYA5	HGNC:14305	MGI:1923719	-	-	yes	no	no	no	NA
CNBD1	HGNC:26663	MGI:3650508	-	-	yes	no	no	no	NA
CNBD2	HGNC:16145	MGI:1918123	-	-	no	no	no	no	NA
CNBP	HGNC:13164	MGI:88431	OMIM:602668|ORPHA:606	Myotonic Dystrophy 2|Proximal Myotonic Myopathy	yes	yes	yes	yes	30.085
CNDP1	HGNC:20675	MGI:2451097	-	-	no	no	no	no	NA
CNDP2	HGNC:24437	MGI:1913304	-	-	yes	no	no	no	NA
CNEP1R1	HGNC:26759	MGI:1921981	-	-	yes	no	no	no	NA
CNFN	HGNC:30183	MGI:1919633	-	-	no	no	no	no	NA
CNGA1	HGNC:2148	MGI:88436	OMIM:613756|ORPHA:791	Retinitis Pigmentosa 49|Retinitis Pigmentosa	no	no	no	no	NA
CNGA2	HGNC:2149	MGI:108040	ORPHA:88620	Isolated Congenital Anosmia	yes	yes	no	no	NA
CNGA3	HGNC:2150	MGI:1341818	OMIM:216900|ORPHA:1872|ORPHA:49382	Achromatopsia 2|Cone Rod Dystrophy|Achromatopsia	yes	yes	yes	no	NA
CNGA4	HGNC:2152	MGI:2664099	-	-	no	no	no	no	NA
CNGB1	HGNC:2151	MGI:2664102	OMIM:613767|ORPHA:791	Retinitis Pigmentosa 45|Retinitis Pigmentosa	no	no	no	no	NA
CNGB3	HGNC:2153	MGI:1353562	OMIM:262300|ORPHA:827|ORPHA:1871|ORPHA:49382	Achromatopsia 3|Stargardt Disease|Progressive Cone Dystrophy|Achromatopsia	yes	yes	yes	no	NA
CNIH1	HGNC:19431	MGI:1277202	-	-	no	no	no	no	NA
CNIH2	HGNC:28744	MGI:1277225	-	-	yes	no	no	no	NA
CNIH3	HGNC:26802	MGI:1920228	-	-	yes	no	no	no	NA
CNIH4	HGNC:25013	MGI:1925828	-	-	no	no	no	no	NA
CNKSR1	HGNC:19700	MGI:2670958	-	-	yes	no	no	no	NA
CNKSR2	HGNC:19701	MGI:2661175	OMIM:301008|ORPHA:777|ORPHA:442835	Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type|X-Linked Non-Syndromic Intellectual Disability|Non-Specific Early-Onset Epileptic Encephalopathy	yes	yes	yes	yes	30.155
CNKSR3	HGNC:23034	MGI:2674130	-	-	no	no	no	no	NA
CNMD	HGNC:17005	MGI:1341171	-	-	no	no	no	no	NA
CNN1	HGNC:2155	MGI:104979	-	-	no	no	no	no	NA
CNN2	HGNC:2156	MGI:105093	-	-	no	no	no	no	NA
CNN3	HGNC:2157	MGI:1919244	-	-	no	no	no	no	NA
CNNM1	HGNC:102	MGI:1891366	-	-	no	no	no	no	NA
CNNM2	HGNC:103	MGI:2151054	OMIM:613882|OMIM:616418|ORPHA:620363	Hypomagnesemia 6, Renal|Hypomagnesemia, Seizures, And Impaired Intellectual Development 1|Primary Hypomagnesemia-Generalized Seizures-Intellectual Disability-Obesity Syndrome	yes	yes	yes	yes	42.255
CNNM3	HGNC:104	MGI:2151055	-	-	yes	no	no	no	NA
CNNM4	HGNC:105	MGI:2151060	OMIM:217080|ORPHA:1873	Jalili Syndrome	no	no	no	no	NA
CNOT1	HGNC:7877	MGI:2442402	OMIM:618500|OMIM:619033|ORPHA:556955	Holoprosencephaly 12 With Or Without Pancreatic Agenesis|Vissers-Bodmer Syndrome|Pancreatic Agenesis-Holoprosencephaly Syndrome	no	no	no	no	NA
CNOT10	HGNC:23817	MGI:1926143	-	-	yes	no	no	no	NA
CNOT11	HGNC:25217	MGI:106580	-	-	no	no	no	no	NA
CNOT2	HGNC:7878	MGI:1919318	OMIM:618608|ORPHA:289513	Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies|12Q15Q21.1 Microdeletion Syndrome	no	no	no	no	NA
CNOT3	HGNC:7879	MGI:2385261	OMIM:618672|ORPHA:528084|ORPHA:99861	Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies|Non-Specific Syndromic Intellectual Disability|Precursor T-Cell Acute Lymphoblastic Leukemia	yes	yes	yes	no	NA
CNOT4	HGNC:7880	MGI:1859026	-	-	yes	no	no	no	NA
CNOT6	HGNC:14099	MGI:2144529	-	-	yes	no	no	no	NA
CNOT6L	HGNC:18042	MGI:2443154	-	-	no	no	no	no	NA
CNOT7	HGNC:14101	MGI:1298230	-	-	yes	no	no	no	NA
CNOT8	HGNC:9207	MGI:1916375	-	-	no	no	no	no	NA
CNOT9	HGNC:10445	MGI:1928902	-	-	yes	no	no	no	NA
CNP	HGNC:2158	MGI:88437	OMIM:619071	Leukodystrophy, Hypomyelinating, 20	yes	yes	yes	yes	34.625
CNPPD1	HGNC:25220	MGI:1916421	-	-	yes	no	no	no	NA
CNPY1	HGNC:27786	MGI:2442451	-	-	yes	no	no	no	NA
CNPY2	HGNC:13529	MGI:1928477	-	-	yes	no	no	no	NA
CNPY3	HGNC:11968	MGI:1919279	OMIM:617929|ORPHA:3451	Developmental And Epileptic Encephalopathy 60|Infantile Spasms Syndrome	no	no	no	no	NA
CNPY4	HGNC:28631	MGI:1913705	-	-	yes	no	no	no	NA
CNR1	HGNC:2159	MGI:104615	-	-	yes	no	no	no	NA
CNR2	HGNC:2160	MGI:104650	-	-	yes	no	no	no	NA
CNRIP1	HGNC:24546	MGI:1917505	-	-	yes	no	no	no	NA
CNST	HGNC:26486	MGI:2445141	-	-	no	no	no	no	NA
CNTD1	HGNC:26847	MGI:1923965	-	-	yes	no	no	no	NA
CNTF	HGNC:2169	MGI:88439	-	-	yes	no	no	no	NA
CNTFR	HGNC:2170	MGI:99605	-	-	yes	no	no	no	NA
CNTLN	HGNC:23432	MGI:2443104	-	-	no	no	no	no	NA
CNTN1	HGNC:2171	MGI:105980	OMIM:612540|ORPHA:210163	Congenital Myopathy 12|Congenital Lethal Myopathy, Compton-North Type	no	no	no	no	NA
CNTN2	HGNC:2172	MGI:104518	OMIM:615400|ORPHA:86814	Epilepsy, Familial Adult Myoclonic, 5|Benign Adult Familial Myoclonic Epilepsy	no	no	no	no	NA
CNTN3	HGNC:2173	MGI:99534	-	-	yes	no	no	no	NA
CNTN4	HGNC:2174	MGI:1095737	-	-	no	no	no	no	NA
CNTN5	HGNC:2175	MGI:3042287	-	-	yes	no	no	no	NA
CNTN6	HGNC:2176	MGI:1858223	-	-	yes	no	no	no	NA
CNTNAP1	HGNC:8011	MGI:1858201	OMIM:618186|OMIM:616286|ORPHA:2680	Neuropathy, Congenital Hypomyelinating, 3|Lethal Congenital Contracture Syndrome 7|Hypomyelination Neuropathy-Arthrogryposis Syndrome	yes	no	yes	no	NA
CNTNAP2	HGNC:13830	MGI:1914047	OMIM:610042|OMIM:612100|ORPHA:163681|ORPHA:106	Pitt-Hopkins-Like Syndrome 1|Autism, Susceptibility To, 15|Cntnap2-Related Developmental And Epileptic Encephalopathy|Non Rare In Europe: Autism	yes	yes	yes	yes	30.61
CNTNAP4	HGNC:18747	MGI:2183572	-	-	no	no	no	no	NA
CNTRL	HGNC:1858	MGI:1889576	-	-	no	no	no	no	NA
CNTROB	HGNC:29616	MGI:2443290	-	-	yes	no	no	no	NA
COA3	HGNC:24990	MGI:1098757	OMIM:619058|ORPHA:254905	Mitochondrial Complex Iv Deficiency, Nuclear Type 14|Isolated Cytochrome C Oxidase Deficiency	no	no	no	no	NA
COA4	HGNC:24604	MGI:1915435	-	-	no	no	no	no	NA
COA5	HGNC:33848	MGI:1923428	OMIM:616500|ORPHA:1561	Mitochondrial Complex Iv Deficiency, Nuclear Type 9|Fatal Infantile Cytochrome C Oxidase Deficiency	yes	yes	yes	no	NA
COA6	HGNC:18025	MGI:1915142	OMIM:616501|ORPHA:1561	Mitochondrial Complex Iv Deficiency, Nuclear Type 13|Fatal Infantile Cytochrome C Oxidase Deficiency	yes	yes	yes	no	NA
COA7	HGNC:25716	MGI:1917143	OMIM:618387	Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	no	no	no	no	NA
COA8	HGNC:20492	MGI:1915270	OMIM:619061|ORPHA:436271	Mitochondrial Complex Iv Deficiency, Nuclear Type 17|Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	yes	yes	yes	no	NA
COASY	HGNC:29932	MGI:1918993	OMIM:615643|OMIM:618266|ORPHA:397725	Neurodegeneration With Brain Iron Accumulation 6|Pontocerebellar Hypoplasia, Type 12|Coasy Protein-Associated Neurodegeneration	yes	yes	yes	no	NA
COBL	HGNC:22199	MGI:105056	-	-	no	no	no	no	NA
COBLL1	HGNC:23571	MGI:2442894	ORPHA:199306	Cleft Lip/Palate	yes	yes	yes	yes	48.895
COCH	HGNC:2180	MGI:1278313	OMIM:618094|OMIM:601369|ORPHA:90635	Deafness, Autosomal Recessive 110|Deafness, Autosomal Dominant 9|Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	no	no	no	no	NA
COG1	HGNC:6545	MGI:1333873	OMIM:611209|ORPHA:263508	Congenital Disorder Of Glycosylation, Type Iig|Cog1-Cdg	yes	yes	yes	no	NA
COG2	HGNC:6546	MGI:1923582	OMIM:617395|ORPHA:435934	Congenital Disorder Of Glycosylation, Type Iiq|Cog2-Cdg	yes	yes	yes	yes	35.525
COG3	HGNC:18619	MGI:2450151	OMIM:620546	Congenital Disorder Of Glycosylation, Type Iibb	yes	yes	yes	no	NA
COG4	HGNC:18620	MGI:2142808	OMIM:613489|OMIM:618150|ORPHA:263501|ORPHA:85172	Congenital Disorder Of Glycosylation, Type Iij|Saul-Wilson Syndrome|Cog4-Cdg|Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	yes	yes	yes	no	NA
COG5	HGNC:14857	MGI:2145130	OMIM:613612|ORPHA:263487	Congenital Disorder Of Glycosylation, Type Iii|Cog5-Cdg	yes	yes	yes	yes	38.88
COG6	HGNC:18621	MGI:1914792	OMIM:614576|OMIM:615328|ORPHA:363523|ORPHA:464443	Congenital Disorder Of Glycosylation, Type Iil|Shaheen Syndrome|Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome|Cog6-Cgd	yes	yes	yes	yes	48.205
COG7	HGNC:18622	MGI:2685013	OMIM:608779|ORPHA:79333	Congenital Disorder Of Glycosylation, Type Iie|Cog7-Cdg	yes	yes	yes	no	NA
COG8	HGNC:18623	MGI:2142885	OMIM:611182|ORPHA:95428	Congenital Disorder Of Glycosylation, Type Iih|Cog8-Cdg	yes	yes	yes	no	NA
COIL	HGNC:2184	MGI:104842	-	-	no	no	no	no	NA
COL10A1	HGNC:2185	MGI:88445	OMIM:156500|ORPHA:174	Metaphyseal Chondrodysplasia, Schmid Type	no	no	no	no	NA
COL11A1	HGNC:2186	MGI:88446	OMIM:618533|OMIM:228520|OMIM:154780|OMIM:604841|OMIM:603932|ORPHA:560|ORPHA:2021|ORPHA:440354|ORPHA:90654	Deafness, Autosomal Dominant 37|Fibrochondrogenesis 1|Marshall Syndrome|Stickler Syndrome, Type Ii|Intervertebral Disc Disease|Fibrochondrogenesis|Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome|Stickler Syndrome Type 2	yes	yes	yes	yes	50.68
COL11A2	HGNC:2187	MGI:88447	OMIM:601868|OMIM:609706|OMIM:614524|OMIM:184840|OMIM:215150|ORPHA:166100|ORPHA:1427|ORPHA:2021|ORPHA:90635|ORPHA:90636	Deafness, Autosomal Dominant 13|Deafness, Autosomal Recessive 53|Fibrochondrogenesis 2|Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant|Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive|Autosomal Dominant Otospondylomegaepiphyseal Dysplasia|Otospondylomegaepiphyseal Dysplasia|Fibrochondrogenesis|Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	yes	yes	yes	no	NA
COL12A1	HGNC:2188	MGI:88448	OMIM:616470|OMIM:616471|ORPHA:610|ORPHA:75840|ORPHA:536516	Ullrich Congenital Muscular Dystrophy 2|Bethlem Myopathy 2|Bethlem Myopathy|Congenital Muscular Dystrophy, Ullrich Type|Myopathic Ehlers-Danlos Syndrome	no	no	no	no	NA
COL13A1	HGNC:2190	MGI:1277201	OMIM:616720|ORPHA:98914|ORPHA:98913	Myasthenic Syndrome, Congenital, 19|Presynaptic Congenital Myasthenic Syndromes|Postsynaptic Congenital Myasthenic Syndromes	yes	no	yes	no	NA
COL14A1	HGNC:2191	MGI:1341272	ORPHA:79501	Punctate Palmoplantar Keratoderma Type 1	yes	yes	yes	no	NA
COL15A1	HGNC:2192	MGI:88449	-	-	no	no	no	no	NA
COL16A1	HGNC:2193	MGI:1095396	-	-	yes	no	no	no	NA
COL17A1	HGNC:2194	MGI:88450	OMIM:619787|OMIM:122400|ORPHA:251393|ORPHA:293381|ORPHA:79402|ORPHA:79406	Epidermolysis Bullosa, Junctional 4, Intermediate|Epithelial Recurrent Erosion Dystrophy|Localized Junctional Epidermolysis Bullosa|Intermediate Generalized Junctional Epidermolysis Bullosa|Late-Onset Junctional Epidermolysis Bullosa	yes	yes	yes	no	NA
COL18A1	HGNC:2195	MGI:88451	OMIM:618880|OMIM:267750|ORPHA:1571	Glaucoma, Primary Closed-Angle|Knobloch Syndrome 1|Knobloch Syndrome	yes	yes	yes	yes	55.24
COL19A1	HGNC:2196	MGI:1095415	-	-	no	no	no	no	NA
COL1A1	HGNC:2197	MGI:88467	OMIM:114000|OMIM:619115|OMIM:130060|OMIM:166200|OMIM:166210|OMIM:259420|OMIM:166220|OMIM:166710|ORPHA:1310|ORPHA:287|ORPHA:216796|ORPHA:216804|ORPHA:216812|ORPHA:216820|ORPHA:230857|ORPHA:1899|ORPHA:314029|ORPHA:31112	Caffey Disease|Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1|Ehlers-Danlos Syndrome, Arthrochalasia Type, 1|Osteogenesis Imperfecta, Type I|Osteogenesis Imperfecta, Type Ii|Osteogenesis Imperfecta, Type Iii|Osteogenesis Imperfecta, Type Iv|Osteoporosis|Classical Ehlers-Danlos Syndrome|Osteogenesis Imperfecta Type 1|Osteogenesis Imperfecta Type 2|Osteogenesis Imperfecta Type 3|Osteogenesis Imperfecta Type 4|Ehlers-Danlos/Osteogenesis Imperfecta Syndrome|Arthrochalasia Ehlers-Danlos Syndrome|High Bone Mass Osteogenesis Imperfecta|Dermatofibrosarcoma Protuberans	no	no	no	no	NA
COL1A2	HGNC:2198	MGI:88468	OMIM:619120|OMIM:617821|OMIM:225320|OMIM:166210|OMIM:259420|OMIM:166220|OMIM:166710|ORPHA:216796|ORPHA:216804|ORPHA:216812|ORPHA:216820|ORPHA:230857|ORPHA:230851|ORPHA:1899|ORPHA:314029	Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2|Ehlers-Danlos Syndrome, Arthrochalasia Type, 2|Ehlers-Danlos Syndrome, Cardiac Valvular Type|Osteogenesis Imperfecta, Type Ii|Osteogenesis Imperfecta, Type Iii|Osteogenesis Imperfecta, Type Iv|Osteoporosis|Osteogenesis Imperfecta Type 1|Osteogenesis Imperfecta Type 2|Osteogenesis Imperfecta Type 3|Osteogenesis Imperfecta Type 4|Ehlers-Danlos/Osteogenesis Imperfecta Syndrome|Cardiac-Valvular Ehlers-Danlos Syndrome|Arthrochalasia Ehlers-Danlos Syndrome|High Bone Mass Osteogenesis Imperfecta	yes	yes	yes	yes	46.87
COL20A1	HGNC:14670	MGI:1920618	-	-	yes	no	no	no	NA
COL22A1	HGNC:22989	MGI:1916950	-	-	yes	no	no	no	NA
COL23A1	HGNC:22990	MGI:2653243	-	-	no	no	no	no	NA
COL24A1	HGNC:20821	MGI:1918605	-	-	yes	no	no	no	NA
COL25A1	HGNC:18603	MGI:1924268	OMIM:616219|ORPHA:1143|ORPHA:45358|ORPHA:91411	Fibrosis Of Extraocular Muscles, Congenital, 5|Neurogenic Arthrogryposis Multiplex Congenita|Congenital Fibrosis Of Extraocular Muscles|Congenital Ptosis	no	no	no	no	NA
COL26A1	HGNC:18038	MGI:2155345	-	-	yes	no	no	no	NA
COL27A1	HGNC:22986	MGI:2672118	OMIM:615155|ORPHA:438117	Steel Syndrome	yes	yes	yes	yes	20.75
COL28A1	HGNC:22442	MGI:2685312	-	-	yes	no	no	no	NA
COL2A1	HGNC:2200	MGI:88452	OMIM:132450|OMIM:619248|OMIM:200610|OMIM:608805|OMIM:609162|OMIM:156550|OMIM:150600|OMIM:604864|OMIM:151210|OMIM:183900|OMIM:184250|OMIM:616583|OMIM:271700|OMIM:108300|OMIM:609508|ORPHA:166100|ORPHA:166011|ORPHA:2380|ORPHA:137678|ORPHA:485|ORPHA:1856|ORPHA:209867|ORPHA:459051|ORPHA:93279|ORPHA:93346|ORPHA:93296|ORPHA:93297|ORPHA:93315|ORPHA:93316|ORPHA:90653|ORPHA:85198|ORPHA:86820|ORPHA:85166|ORPHA:94068	Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness|Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia|Achondrogenesis, Type Ii|Avascular Necrosis Of Femoral Head, Primary, 1|Czech Dysplasia|Kniest Dysplasia|Legg-Calve-Perthes Disease|Osteoarthritis With Mild Chondrodysplasia|Platyspondylic Lethal Skeletal Dysplasia, Torrance Type|Spondyloepiphyseal Dysplasia Congenita|Spondyloepimetaphyseal Dysplasia, Strudwick Type|Spondyloepiphyseal Dysplasia, Stanescu Type|Spondyloperipheral Dysplasia|Stickler Syndrome, Type I|Stickler Syndrome, Type I, Nonsyndromic Ocular|Autosomal Dominant Otospondylomegaepiphyseal Dysplasia|Multiple Epiphyseal Dysplasia, Beighton Type|Legg-Calvé-Perthes Disease|Spondyloepiphyseal Dysplasia With Metatarsal Shortening|Spondyloperipheral Dysplasia-Short Ulna Syndrome|Autosomal Dominant Rhegmatogenous Retinal Detachment|Mild Spondyloepiphyseal Dysplasia Due To Col2A1 Mutation With Early-Onset Osteoarthritis|Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type|Achondrogenesis Type 2|Hypochondrogenesis|Spondylometaphyseal Dysplasia, 'Corner Fracture' Type|Spondylometaphyseal Dysplasia, Schmidt Type|Stickler Syndrome Type 1|Dysspondyloenchondromatosis|Familial Avascular Necrosis Of Femoral Head|Platyspondylic Dysplasia, Torrance Type	no	no	no	no	NA
COL3A1	HGNC:2201	MGI:88453	OMIM:130050|OMIM:618343|ORPHA:86|ORPHA:2500|ORPHA:231160|ORPHA:286|ORPHA:636941	Ehlers-Danlos Syndrome, Vascular Type|Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome|Familial Abdominal Aortic Aneurysm|Acrogeria|Familial Cerebral Saccular Aneurysm|Vascular Ehlers-Danlos Syndrome|Vascular Ehlers-Danlos-Polymicrogyria Syndrome	no	no	no	no	NA
COL4A1	HGNC:2202	MGI:88454	OMIM:180000|OMIM:611773|OMIM:175780|OMIM:618564|OMIM:614519|ORPHA:899|ORPHA:481986|ORPHA:477749|ORPHA:75326|ORPHA:73229|ORPHA:36383|ORPHA:99810	Retinal Arteries, Tortuosity Of|Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps|Brain Small Vessel Disease 1 With Or Without Ocular Anomalies|Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant|Hemorrhage, Intracerebral, Susceptibility To|Walker-Warburg Syndrome|Familial Schizencephaly|Pontine Autosomal Dominant Microangiopathy With Leukoencephalopathy|Retinal Arterial Tortuosity|Hanac Syndrome|Col4A1-Related Familial Vascular Leukoencephalopathy|Familial Porencephaly	no	no	no	no	NA
COL4A2	HGNC:2203	MGI:88455	OMIM:614483|OMIM:614519|ORPHA:99810	Brain Small Vessel Disease 2|Hemorrhage, Intracerebral, Susceptibility To|Familial Porencephaly	yes	yes	yes	no	NA
COL4A3	HGNC:2204	MGI:104688	OMIM:104200|OMIM:620536|OMIM:620320|ORPHA:656|ORPHA:88918|ORPHA:88919|ORPHA:97562	Alport Syndrome 3A, Autosomal Dominant|Alport Syndrome 3B, Autosomal Recessive|Hematuria, Benign Familial, 2|Genetic Steroid-Resistant Nephrotic Syndrome|Autosomal Dominant Alport Syndrome|Autosomal Recessive Alport Syndrome|Non Rare In Europe: Benign Familial Hematuria	yes	yes	yes	yes	39.2
COL4A4	HGNC:2206	MGI:104687	OMIM:203780|OMIM:141200|ORPHA:88918|ORPHA:88919|ORPHA:97562	Alport Syndrome 2, Autosomal Recessive|Hematuria, Benign Familial, 1|Autosomal Dominant Alport Syndrome|Autosomal Recessive Alport Syndrome|Non Rare In Europe: Benign Familial Hematuria	yes	yes	yes	yes	48.05
COL4A5	HGNC:2207	MGI:88456	OMIM:301050|ORPHA:1018|ORPHA:88917|ORPHA:97562	Alport Syndrome 1, X-Linked|X-Linked Alport Syndrome-Diffuse Leiomyomatosis|X-Linked Alport Syndrome|Non Rare In Europe: Benign Familial Hematuria	yes	yes	yes	yes	44.235
COL4A6	HGNC:2208	MGI:2152695	OMIM:300914|ORPHA:1018|ORPHA:90625	Deafness, X-Linked 6|X-Linked Alport Syndrome-Diffuse Leiomyomatosis|Rare X-Linked Non-Syndromic Sensorineural Deafness Type Dfn	no	no	no	no	NA
COL5A1	HGNC:2209	MGI:88457	OMIM:130000|OMIM:619329|ORPHA:287	Ehlers-Danlos Syndrome, Classic Type, 1|Fibromuscular Dysplasia, Multifocal|Classical Ehlers-Danlos Syndrome	yes	yes	yes	no	NA
COL5A2	HGNC:2210	MGI:88458	OMIM:130010|ORPHA:287	Ehlers-Danlos Syndrome, Classic Type, 2|Classical Ehlers-Danlos Syndrome	no	no	no	no	NA
COL5A3	HGNC:14864	MGI:1858212	-	-	no	no	no	no	NA
COL6A1	HGNC:2211	MGI:88459	OMIM:158810|OMIM:254090|ORPHA:610|ORPHA:75840|ORPHA:646113|ORPHA:646098	Bethlem Myopathy 1|Ullrich Congenital Muscular Dystrophy 1|Bethlem Myopathy|Congenital Muscular Dystrophy, Ullrich Type|Intermediate Collagen Vi-Related Muscular Dystrophy|Collagen Vi-Related Congenital Muscular Dystrophy	no	no	no	no	NA
COL6A2	HGNC:2212	MGI:88460	OMIM:255600|OMIM:158810|OMIM:254090|ORPHA:610|ORPHA:289380|ORPHA:75840|ORPHA:646113|ORPHA:646098	Myosclerosis, Autosomal Recessive|Bethlem Myopathy 1|Ullrich Congenital Muscular Dystrophy 1|Bethlem Myopathy|Myosclerosis|Congenital Muscular Dystrophy, Ullrich Type|Intermediate Collagen Vi-Related Muscular Dystrophy|Collagen Vi-Related Congenital Muscular Dystrophy	yes	yes	yes	no	NA
COL6A3	HGNC:2213	MGI:88461	OMIM:158810|OMIM:616411|OMIM:254090|ORPHA:610|ORPHA:464440|ORPHA:75840|ORPHA:646113|ORPHA:646098	Bethlem Myopathy 1|Dystonia 27|Ullrich Congenital Muscular Dystrophy 1|Bethlem Myopathy|Primary Dystonia, Dyt27 Type|Congenital Muscular Dystrophy, Ullrich Type|Intermediate Collagen Vi-Related Muscular Dystrophy|Collagen Vi-Related Congenital Muscular Dystrophy	yes	yes	yes	yes	21.025
COL6A5	HGNC:26674	MGI:3648134	-	-	no	no	no	no	NA
COL6A6	HGNC:27023	MGI:2444259	-	-	yes	no	no	no	NA
COL7A1	HGNC:2214	MGI:88462	OMIM:226600|OMIM:132000|OMIM:131750|OMIM:604129|OMIM:131850|OMIM:607523|OMIM:131705|ORPHA:158676|ORPHA:158673|ORPHA:231568|ORPHA:89843|ORPHA:89842|ORPHA:79409|ORPHA:79408|ORPHA:79411|ORPHA:79410	Epidermolysis Bullosa Dystrophica, Autosomal Recessive|Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails|Epidermolysis Bullosa Dystrophica, Autosomal Dominant|Epidermolysis Bullosa Pruriginosa|Epidermolysis Bullosa Dystrophica, Pretibial|Nail Disorder, Nonsyndromic Congenital, 8|Transient Bullous Dermolysis Of The Newborn|Localized Dystrophic Epidermolysis Bullosa, Nails Only|Localized Dystrophic Epidermolysis Bullosa, Acral Form|Autosomal Dominant Generalized Dystrophic Epidermolysis Bullosa|Dystrophic Epidermolysis Bullosa Pruriginosa|Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form|Recessive Dystrophic Epidermolysis Bullosa Inversa|Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form|Self-Improving Dystrophic Epidermolysis Bullosa|Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	no	no	no	no	NA
COL8A1	HGNC:2215	MGI:88463	-	-	yes	no	no	no	NA
COL8A2	HGNC:2216	MGI:88464	OMIM:136800|OMIM:609140|ORPHA:98973|ORPHA:98974	Corneal Dystrophy, Fuchs Endothelial, 1|Corneal Dystrophy, Posterior Polymorphous, 2|Posterior Polymorphous Corneal Dystrophy|Fuchs Endothelial Corneal Dystrophy	no	no	no	no	NA
COL9A1	HGNC:2217	MGI:88465	OMIM:614135|OMIM:614134|ORPHA:166002|ORPHA:250984	Epiphyseal Dysplasia, Multiple, 6|Stickler Syndrome, Type Iv|Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly|Autosomal Recessive Stickler Syndrome	no	no	no	no	NA
COL9A2	HGNC:2218	MGI:88466	OMIM:614284|OMIM:600204|ORPHA:166002|ORPHA:250984	Stickler Syndrome, Type V|Epiphyseal Dysplasia, Multiple, 2|Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly|Autosomal Recessive Stickler Syndrome	yes	yes	yes	yes	66.405
COL9A3	HGNC:2219	MGI:894686	OMIM:600969|OMIM:620022|OMIM:603932|ORPHA:166002|ORPHA:250984	Epiphyseal Dysplasia, Multiple, 3|Stickler Syndrome, Type Vi|Intervertebral Disc Disease|Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly|Autosomal Recessive Stickler Syndrome	yes	yes	yes	yes	22.325
COLEC10	HGNC:2220	MGI:3606482	OMIM:248340|ORPHA:293843	3Mc Syndrome 3|3Mc Syndrome	yes	yes	yes	yes	32.645
COLEC11	HGNC:17213	MGI:1918943	OMIM:265050|ORPHA:293843	3Mc Syndrome 2|3Mc Syndrome	no	no	no	no	NA
COLEC12	HGNC:16016	MGI:2152907	-	-	yes	no	no	no	NA
COLGALT1	HGNC:26182	MGI:1924348	OMIM:618360	Brain Small Vessel Disease 3	no	no	no	no	NA
COLGALT2	HGNC:16790	MGI:2138232	-	-	no	no	no	no	NA
COMMD1	HGNC:23024	MGI:109474	-	-	no	no	no	no	NA
COMMD10	HGNC:30201	MGI:1916706	-	-	yes	no	no	no	NA
COMMD2	HGNC:24993	MGI:1098806	-	-	no	no	no	no	NA
COMMD3	HGNC:23332	MGI:88218	-	-	no	no	no	no	NA
COMMD4	HGNC:26027	MGI:1913449	-	-	no	no	no	no	NA
COMMD5	HGNC:17902	MGI:1913648	-	-	no	no	no	no	NA
COMMD6	HGNC:24015	MGI:1913450	-	-	no	no	no	no	NA
COMMD7	HGNC:16223	MGI:1914197	-	-	no	no	no	no	NA
COMMD8	HGNC:26036	MGI:1343485	-	-	no	no	no	no	NA
COMMD9	HGNC:25014	MGI:1923751	-	-	yes	no	no	no	NA
COMP	HGNC:2227	MGI:88469	OMIM:619161|OMIM:132400|OMIM:177170|ORPHA:750|ORPHA:93308	Carpal Tunnel Syndrome 2|Epiphyseal Dysplasia, Multiple, 1|Pseudoachondroplasia|Multiple Epiphyseal Dysplasia Type 1	no	no	no	no	NA
COMT	HGNC:2228	MGI:88470	OMIM:167870|OMIM:181500|ORPHA:567	Panic Disorder 1|Schizophrenia|22Q11.2 Deletion Syndrome	yes	yes	yes	yes	33.16
COMTD1	HGNC:26309	MGI:1916406	-	-	no	no	no	no	NA
COP1	HGNC:17440	MGI:1347046	-	-	no	no	no	no	NA
COPA	HGNC:2230	MGI:1334462	OMIM:616414|ORPHA:444092	Autoimmune Interstitial Lung, Joint, And Kidney Disease|Autoimmune Interstitial Lung Disease-Arthritis Syndrome	no	no	no	no	NA
COPB1	HGNC:2231	MGI:1917599	OMIM:619255|ORPHA:633035	Baralle-Macken Syndrome|Intellectual Disability-Early-Onset Cataract-Microcephaly Syndrome	yes	no	yes	no	NA
COPB2	HGNC:2232	MGI:1354962	OMIM:617800|OMIM:619884|ORPHA:2512	Microcephaly 19, Primary, Autosomal Recessive|Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay|Autosomal Recessive Primary Microcephaly	yes	yes	yes	yes	34.79
COPE	HGNC:2234	MGI:1891702	-	-	no	no	no	no	NA
COPG1	HGNC:2236	MGI:1858696	-	-	yes	no	no	no	NA
COPG2	HGNC:2237	MGI:1858683	-	-	yes	no	no	no	NA
COPRS	HGNC:28848	MGI:1913673	-	-	no	no	no	no	NA
COPS2	HGNC:30747	MGI:1330276	-	-	no	no	no	no	NA
COPS3	HGNC:2239	MGI:1349409	-	-	no	no	no	no	NA
COPS4	HGNC:16702	MGI:1349414	-	-	yes	no	no	no	NA
COPS5	HGNC:2240	MGI:1349415	-	-	no	no	no	no	NA
COPS6	HGNC:21749	MGI:1349439	-	-	no	no	no	no	NA
COPS7A	HGNC:16758	MGI:1349400	-	-	yes	no	no	no	NA
COPS7B	HGNC:16760	MGI:1349388	-	-	no	no	no	no	NA
COPS8	HGNC:24335	MGI:1915363	-	-	yes	no	no	no	NA
COPS9	HGNC:21314	MGI:1914165	-	-	yes	no	no	no	NA
COPZ1	HGNC:2243	MGI:1929063	-	-	no	no	no	no	NA
COPZ2	HGNC:19356	MGI:1929008	-	-	no	no	no	no	NA
COQ10A	HGNC:26515	MGI:2684847	-	-	no	no	no	no	NA
COQ10B	HGNC:25819	MGI:1915126	-	-	no	no	no	no	NA
COQ2	HGNC:25223	MGI:1919133	OMIM:607426|OMIM:146500|ORPHA:227510|ORPHA:98933	Coenzyme Q10 Deficiency, Primary, 1|Multiple System Atrophy 1, Susceptibility To|Multiple System Atrophy, Cerebellar Type|Multiple System Atrophy, Parkinsonian Type	yes	yes	yes	yes	19.3
COQ3	HGNC:18175	MGI:101813	-	-	yes	no	no	no	NA
COQ4	HGNC:19693	MGI:1098826	OMIM:616276|ORPHA:457185	Coenzyme Q10 Deficiency, Primary, 7|Neonatal Encephalomyopathy-Cardiomyopathy-Respiratory Distress Syndrome	yes	yes	yes	no	NA
COQ5	HGNC:28722	MGI:1098643	OMIM:619028	Coenzyme Q10 Deficiency, Primary, 9	no	no	no	no	NA
COQ6	HGNC:20233	MGI:1924408	OMIM:614650|ORPHA:280406|ORPHA:93921	Coenzyme Q10 Deficiency, Primary, 6|Familial Steroid-Resistant Nephrotic Syndrome With Sensorineural Deafness|Full Schwannomatosis	yes	yes	yes	yes	30.755
COQ7	HGNC:2244	MGI:107207	OMIM:616733|OMIM:620402|ORPHA:319678	Coenzyme Q10 Deficiency, Primary, 8|Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9|Encephalopathy-Hypertrophic Cardiomyopathy-Renal Tubular Disease Syndrome	yes	yes	yes	no	NA
COQ8A	HGNC:16812	MGI:1914676	OMIM:612016|ORPHA:139485	Coenzyme Q10 Deficiency, Primary, 4|Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	no	no	no	no	NA
COQ8B	HGNC:19041	MGI:1924139	OMIM:615573|ORPHA:656	Nephrotic Syndrome, Type 9|Genetic Steroid-Resistant Nephrotic Syndrome	yes	yes	yes	no	NA
COQ9	HGNC:25302	MGI:1915164	OMIM:614654|ORPHA:319678	Coenzyme Q10 Deficiency, Primary, 5|Encephalopathy-Hypertrophic Cardiomyopathy-Renal Tubular Disease Syndrome	yes	no	yes	no	NA
CORIN	HGNC:19012	MGI:1349451	OMIM:614595|ORPHA:275555	Preeclampsia/Eclampsia 5|Preeclampsia	no	no	no	no	NA
CORO1A	HGNC:2252	MGI:1345961	OMIM:615401|ORPHA:228003	Immunodeficiency 8 With Lymphoproliferation|Severe Combined Immunodeficiency Due To Coro1A Deficiency	yes	yes	yes	yes	48.795
CORO1B	HGNC:2253	MGI:1345963	-	-	no	no	no	no	NA
CORO1C	HGNC:2254	MGI:1345964	-	-	yes	no	no	no	NA
CORO2A	HGNC:2255	MGI:1345966	-	-	no	no	no	no	NA
CORO2B	HGNC:2256	MGI:2444283	-	-	yes	no	no	no	NA
CORO6	HGNC:21356	MGI:2183448	-	-	yes	no	no	no	NA
CORT	HGNC:2257	MGI:109538	-	-	no	no	no	no	NA
COTL1	HGNC:18304	MGI:1919292	-	-	yes	no	no	no	NA
COX10	HGNC:2260	MGI:1917633	OMIM:619046|ORPHA:254905	Mitochondrial Complex Iv Deficiency, Nuclear Type 3|Isolated Cytochrome C Oxidase Deficiency	no	no	no	no	NA
COX11	HGNC:2261	MGI:1917052	OMIM:620275	Mitochondrial Complex Iv Deficiency, Nuclear Type 23	no	no	no	no	NA
COX14	HGNC:28216	MGI:1913629	OMIM:619053|ORPHA:254905	Mitochondrial Complex Iv Deficiency, Nuclear Type 10|Isolated Cytochrome C Oxidase Deficiency	no	no	no	no	NA
COX15	HGNC:2263	MGI:1920112	OMIM:615119|ORPHA:1561	Mitochondrial Complex Iv Deficiency, Nuclear Type 6|Fatal Infantile Cytochrome C Oxidase Deficiency	yes	yes	yes	yes	30.19
COX16	HGNC:20213	MGI:1913522	OMIM:619355	Mitochondrial Complex Iv Deficiency, Nuclear Type 22	yes	yes	yes	no	NA
COX17	HGNC:2264	MGI:1333806	-	-	no	no	no	no	NA
COX18	HGNC:26801	MGI:2448532	-	-	yes	no	no	no	NA
COX19	HGNC:28074	MGI:1915283	-	-	yes	no	no	no	NA
COX20	HGNC:26970	MGI:1913609	OMIM:619054|ORPHA:254905	Mitochondrial Complex Iv Deficiency, Nuclear Type 11|Isolated Cytochrome C Oxidase Deficiency	yes	yes	yes	yes	31.97
COX4I1	HGNC:2265	MGI:88473	OMIM:619060|ORPHA:254905	Mitochondrial Complex Iv Deficiency, Nuclear Type 16|Isolated Cytochrome C Oxidase Deficiency	yes	yes	yes	no	NA
COX4I2	HGNC:16232	MGI:2135755	OMIM:612714|ORPHA:199337	Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis|Pancreatic Insufficiency-Anemia-Hyperostosis Syndrome	no	no	no	no	NA
COX5A	HGNC:2267	MGI:88474	OMIM:619064|ORPHA:254905	Mitochondrial Complex Iv Deficiency, Nuclear Type 20|Isolated Cytochrome C Oxidase Deficiency	no	no	no	no	NA
COX6A1	HGNC:2277	MGI:103099	OMIM:616039|ORPHA:435998	Charcot-Marie-Tooth Disease, Recessive Intermediate D|Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type D	yes	no	yes	no	NA
COX6A2	HGNC:2279	MGI:104649	OMIM:619062|ORPHA:254905	Mitochondrial Complex Iv Deficiency, Nuclear Type 18|Isolated Cytochrome C Oxidase Deficiency	no	no	no	no	NA
COX6B1	HGNC:2280	MGI:107460	OMIM:619051|ORPHA:254905	Mitochondrial Complex Iv Deficiency, Nuclear Type 7|Isolated Cytochrome C Oxidase Deficiency	yes	yes	yes	yes	23.31
COX6B2	HGNC:24380	MGI:3044182	-	-	yes	no	no	no	NA
COX6C	HGNC:2285	MGI:104614	-	-	no	no	no	no	NA
COX7A1	HGNC:2287	MGI:1316714	-	-	yes	no	no	no	NA
COX7A2	HGNC:2288	MGI:1316715	-	-	yes	no	no	no	NA
COX7A2L	HGNC:2289	MGI:106015	-	-	yes	no	no	no	NA
COX7B	HGNC:2291	MGI:1913392	OMIM:300887|ORPHA:2556	Linear Skin Defects With Multiple Congenital Anomalies 2|Microphthalmia With Linear Skin Defects Syndrome	no	no	no	no	NA
COX7B2	HGNC:24381	MGI:1925424	-	-	no	no	no	no	NA
COX7C	HGNC:2292	MGI:103226	-	-	yes	no	no	no	NA
COX8A	HGNC:2294	MGI:105959	OMIM:619059|ORPHA:254905	Mitochondrial Complex Iv Deficiency, Nuclear Type 15|Isolated Cytochrome C Oxidase Deficiency	yes	yes	yes	yes	37.275
COX8C	HGNC:24382	MGI:1922733	-	-	no	no	no	no	NA
CP	HGNC:2295	MGI:88476	OMIM:604290|ORPHA:48818	Aceruloplasminemia	yes	yes	yes	yes	51.18
CPA1	HGNC:2296	MGI:88478	ORPHA:676	Hereditary Chronic Pancreatitis	yes	yes	yes	yes	46.365
CPA2	HGNC:2297	MGI:3617840	-	-	yes	no	no	no	NA
CPA3	HGNC:2298	MGI:88479	-	-	yes	no	no	no	NA
CPA4	HGNC:15740	MGI:1919041	-	-	yes	no	no	no	NA
CPA5	HGNC:15722	MGI:1921899	-	-	yes	no	no	no	NA
CPA6	HGNC:17245	MGI:3045348	OMIM:614417|OMIM:614418|ORPHA:165805|ORPHA:163717	Epilepsy, Familial Temporal Lobe, 5|Febrile Seizures, Familial, 11|Familial Mesial Temporal Lobe Epilepsy With Febrile Seizures|Benign Familial Mesial Temporal Lobe Epilepsy	no	no	no	no	NA
CPB1	HGNC:2299	MGI:1923953	-	-	yes	no	no	no	NA
CPB2	HGNC:2300	MGI:1891837	-	-	no	no	no	no	NA
CPD	HGNC:2301	MGI:107265	-	-	yes	no	no	no	NA
CPE	HGNC:2303	MGI:101932	OMIM:619326|ORPHA:633028	Bdv Syndrome|Cpe-Related Prader-Willi-Like Syndrome	yes	yes	yes	yes	36.725
CPEB1	HGNC:21744	MGI:108442	-	-	no	no	no	no	NA
CPEB2	HGNC:21745	MGI:2442640	-	-	no	no	no	no	NA
CPEB3	HGNC:21746	MGI:2443075	-	-	no	no	no	no	NA
CPEB4	HGNC:21747	MGI:1914829	-	-	yes	no	no	no	NA
CPED1	HGNC:26159	MGI:2444814	-	-	yes	no	no	no	NA
CPLANE1	HGNC:25801	MGI:1920942	OMIM:614615|OMIM:277170|ORPHA:475|ORPHA:2754|ORPHA:65684	Joubert Syndrome 17|Orofaciodigital Syndrome Vi|Joubert Syndrome|Orofaciodigital Syndrome Type 6|Monomelic Amyotrophy	yes	yes	yes	no	NA
CPLANE2	HGNC:28127	MGI:1923416	-	-	no	no	no	no	NA
CPLX1	HGNC:2309	MGI:104727	OMIM:617976|ORPHA:280|ORPHA:352582	Developmental And Epileptic Encephalopathy 63|Wolf-Hirschhorn Syndrome|Familial Infantile Myoclonic Epilepsy	no	no	no	no	NA
CPLX2	HGNC:2310	MGI:104726	-	-	no	no	no	no	NA
CPLX3	HGNC:27652	MGI:2384571	-	-	yes	no	no	no	NA
CPLX4	HGNC:24330	MGI:2685803	-	-	yes	no	no	no	NA
CPM	HGNC:2311	MGI:1917824	-	-	yes	no	no	no	NA
CPN1	HGNC:2312	MGI:2135874	OMIM:212070	Carboxypeptidase N Deficiency	yes	yes	yes	no	NA
CPN2	HGNC:2313	MGI:1919006	-	-	no	no	no	no	NA
CPNE1	HGNC:2314	MGI:2386621	-	-	no	no	no	no	NA
CPNE2	HGNC:2315	MGI:2387578	-	-	no	no	no	no	NA
CPNE3	HGNC:2316	MGI:1917818	-	-	no	no	no	no	NA
CPNE4	HGNC:2317	MGI:1921270	-	-	no	no	no	no	NA
CPNE5	HGNC:2318	MGI:2385908	-	-	yes	no	no	no	NA
CPNE6	HGNC:2319	MGI:1334445	-	-	no	no	no	no	NA
CPNE7	HGNC:2320	MGI:2142747	-	-	yes	no	no	no	NA
CPNE8	HGNC:23498	MGI:1914121	-	-	no	no	no	no	NA
CPNE9	HGNC:24336	MGI:2443052	-	-	no	no	no	no	NA
CPOX	HGNC:2321	MGI:104841	OMIM:121300|OMIM:618892|ORPHA:79273	Coproporphyria, Hereditary|Harderoporphyria|Hereditary Coproporphyria	yes	yes	yes	no	NA
CPPED1	HGNC:25632	MGI:2443300	-	-	no	no	no	no	NA
CPQ	HGNC:16910	MGI:1889205	-	-	yes	no	no	no	NA
CPS1	HGNC:2323	MGI:891996	OMIM:237300|OMIM:615371|ORPHA:147	Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To|Pulmonary Hypertension, Neonatal, Susceptibility To|Carbamoyl-Phosphate Synthetase 1 Deficiency	yes	yes	yes	yes	29.505
CPSF1	HGNC:2324	MGI:2679722	OMIM:618827	Myopia 27, Autosomal Dominant	yes	yes	yes	no	NA
CPSF2	HGNC:2325	MGI:1861601	-	-	no	no	no	no	NA
CPSF3	HGNC:2326	MGI:1859328	OMIM:619876|ORPHA:528084	Neurodevelopmental Disorder With Microcephaly, Hypotonia, Nystagmus, And Seizures|Non-Specific Syndromic Intellectual Disability	yes	yes	yes	no	NA
CPSF4	HGNC:2327	MGI:1861602	-	-	no	no	no	no	NA
CPSF4L	HGNC:33632	MGI:1277182	-	-	yes	no	no	no	NA
CPSF6	HGNC:13871	MGI:1913948	-	-	no	no	no	no	NA
CPSF7	HGNC:30098	MGI:1917826	-	-	yes	no	no	no	NA
CPT1A	HGNC:2328	MGI:1098296	OMIM:255120|ORPHA:156	Carnitine Palmitoyltransferase I Deficiency|Carnitine Palmitoyl Transferase 1A Deficiency	yes	yes	yes	no	NA
CPT1B	HGNC:2329	MGI:1098297	-	-	no	no	no	no	NA
CPT1C	HGNC:18540	MGI:2446526	OMIM:616282|ORPHA:444099	Spastic Paraplegia 73, Autosomal Dominant|Autosomal Dominant Spastic Paraplegia Type 73	yes	yes	yes	no	NA
CPT2	HGNC:2330	MGI:109176	OMIM:600649|OMIM:608836|OMIM:255110|OMIM:614212|ORPHA:263524|ORPHA:228302|ORPHA:228305|ORPHA:228308	Carnitine Palmitoyltransferase Ii Deficiency, Infantile|Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal|Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced|Encephalopathy, Acute, Infection-Induced, Susceptibility To, 4|Acute Necrotizing Encephalopathy Of Childhood|Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form|Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form|Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	yes	yes	yes	yes	23.025
CPTP	HGNC:28116	MGI:1933107	-	-	no	no	no	no	NA
CPVL	HGNC:14399	MGI:1918537	-	-	yes	no	no	no	NA
CPXCR1	HGNC:2332	MGI:2685989	-	-	no	no	no	no	NA
CPXM1	HGNC:15771	MGI:1934569	-	-	yes	no	no	no	NA
CPXM2	HGNC:26977	MGI:1926006	-	-	no	no	no	no	NA
CPZ	HGNC:2333	MGI:88487	-	-	yes	no	no	no	NA
CR1L	HGNC:2335	MGI:88513	-	-	yes	no	no	no	NA
CR2	HGNC:2336	MGI:88489	OMIM:614699|OMIM:610927|ORPHA:536|ORPHA:1572	Immunodeficiency, Common Variable, 7|Systemic Lupus Erythematosus, Susceptibility To, 9|Systemic Lupus Erythematosus|Common Variable Immunodeficiency	yes	no	yes	no	NA
CRABP1	HGNC:2338	MGI:88490	-	-	yes	no	no	no	NA
CRABP2	HGNC:2339	MGI:88491	-	-	yes	no	no	no	NA
CRACD	HGNC:29219	MGI:2444817	-	-	yes	no	no	no	NA
CRACDL	HGNC:33454	MGI:1919347	-	-	yes	no	no	no	NA
CRACR2A	HGNC:28657	MGI:2685919	-	-	yes	no	no	no	NA
CRACR2B	HGNC:28703	MGI:2446129	-	-	no	no	no	no	NA
CRADD	HGNC:2340	MGI:1336168	OMIM:614499|ORPHA:88616	Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly|Autosomal Recessive Non-Syndromic Intellectual Disability	no	no	no	no	NA
CRAMP1	HGNC:14122	MGI:1930190	-	-	yes	no	no	no	NA
CRAT	HGNC:2342	MGI:109501	OMIM:617917	Neurodegeneration With Brain Iron Accumulation 8	no	no	no	no	NA
CRB1	HGNC:2343	MGI:2136343	OMIM:613835|OMIM:172870|OMIM:600105|ORPHA:791|ORPHA:251295|ORPHA:65|ORPHA:35612	Leber Congenital Amaurosis 8|Pigmented Paravenous Chorioretinal Atrophy|Retinitis Pigmentosa 12|Retinitis Pigmentosa|Pigmented Paravenous Retinochoroidal Atrophy|Leber Congenital Amaurosis|Nanophthalmos	no	no	no	no	NA
CRB2	HGNC:18688	MGI:2679260	OMIM:616220|OMIM:219730|ORPHA:656|ORPHA:443988	Focal Segmental Glomerulosclerosis 9|Ventriculomegaly With Cystic Kidney Disease|Genetic Steroid-Resistant Nephrotic Syndrome|Ventriculomegaly-Cystic Kidney Disease	yes	yes	yes	no	NA
CRB3	HGNC:20237	MGI:2670904	-	-	no	no	no	no	NA
CRBN	HGNC:30185	MGI:1913277	OMIM:607417|ORPHA:88616	Intellectual Developmental Disorder, Autosomal Recessive 2|Autosomal Recessive Non-Syndromic Intellectual Disability	yes	yes	yes	no	NA
CRCP	HGNC:17888	MGI:1100818	-	-	yes	no	no	no	NA
CREB1	HGNC:2345	MGI:88494	OMIM:612160|ORPHA:97338	Histiocytoma, Angiomatoid Fibrous|Melanoma Of Soft Tissue	no	no	no	no	NA
CREB3	HGNC:2347	MGI:99946	-	-	yes	no	no	no	NA
CREB3L1	HGNC:18856	MGI:1347062	OMIM:616229|ORPHA:216812|ORPHA:79105	Osteogenesis Imperfecta, Type Xvi|Osteogenesis Imperfecta Type 3|Myxofibrosarcoma	yes	yes	yes	no	NA
CREB3L2	HGNC:23720	MGI:2442695	ORPHA:79105	Myxofibrosarcoma	no	no	no	no	NA
CREB3L3	HGNC:18855	MGI:2384786	OMIM:619324|ORPHA:300293	Hypertriglyceridemia 2|Transient Infantile Hypertriglyceridemia And Hepatosteatosis	no	no	no	no	NA
CREB3L4	HGNC:18854	MGI:1916603	-	-	no	no	no	no	NA
CREB5	HGNC:16844	MGI:2443973	-	-	no	no	no	no	NA
CREBBP	HGNC:2348	MGI:1098280	OMIM:618332|OMIM:180849|ORPHA:370026|ORPHA:353277|ORPHA:353281|ORPHA:592574	Menke-Hennekam Syndrome 1|Rubinstein-Taybi Syndrome 1|Acute Myeloid Leukemia With T(8;16)(P11;P13) Translocation|Rubinstein-Taybi Syndrome Due To Crebbp Mutations|Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion|Menke-Hennekam Syndrome	no	no	no	no	NA
CREBL2	HGNC:2350	MGI:1889385	-	-	no	no	no	no	NA
CREBRF	HGNC:24050	MGI:1924378	-	-	no	no	no	no	NA
CREBZF	HGNC:24905	MGI:2675296	-	-	yes	no	no	no	NA
CREG1	HGNC:2351	MGI:1344382	-	-	no	no	no	no	NA
CREG2	HGNC:14272	MGI:1928333	-	-	yes	no	no	no	NA
CRELD1	HGNC:14630	MGI:2152539	OMIM:606217|ORPHA:99068|ORPHA:99067|ORPHA:576235	Atrioventricular Septal Defect, Susceptibility To, 2|Complete Atrioventricular Septal Defect-Tetralogy Of Fallot|Complete Atrioventricular Septal Defect With Ventricular Hypoplasia|Partial Atrioventricular Septal Defect Without Ventricular Hypoplasia	no	no	no	no	NA
CRELD2	HGNC:28150	MGI:1923987	-	-	yes	no	no	no	NA
CREM	HGNC:2352	MGI:88495	-	-	no	no	no	no	NA
CRH	HGNC:2355	MGI:88496	ORPHA:98784	Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	no	no	no	no	NA
CRHBP	HGNC:2356	MGI:88497	-	-	no	no	no	no	NA
CRHR1	HGNC:2357	MGI:88498	-	-	no	no	no	no	NA
CRHR2	HGNC:2358	MGI:894312	-	-	no	no	no	no	NA
CRIM1	HGNC:2359	MGI:1354756	ORPHA:468672	Colobomatous Macrophthalmia-Microcornea Syndrome	yes	yes	no	no	NA
CRIP1	HGNC:2360	MGI:88501	-	-	yes	no	no	no	NA
CRIP2	HGNC:2361	MGI:1915587	-	-	yes	no	no	no	NA
CRIP3	HGNC:17751	MGI:2152434	-	-	yes	no	no	no	NA
CRIPT	HGNC:14312	MGI:1929655	OMIM:615789	Short Stature With Microcephaly And Distinctive Facies	yes	yes	yes	yes	31.27
CRIPTO	HGNC:11701	MGI:98658	ORPHA:280200|ORPHA:280195|ORPHA:220386|ORPHA:93926|ORPHA:93924|ORPHA:93925	Microform Holoprosencephaly|Septopreoptic Holoprosencephaly|Semilobar Holoprosencephaly|Midline Interhemispheric Variant Of Holoprosencephaly|Lobar Holoprosencephaly|Alobar Holoprosencephaly	yes	yes	yes	no	NA
CRISP1	HGNC:304	MGI:1925331	-	-	no	no	no	no	NA
CRISP2	HGNC:12024	MGI:98815	-	-	yes	no	no	no	NA
CRISPLD1	HGNC:18206	MGI:1934666	-	-	no	no	no	no	NA
CRISPLD2	HGNC:25248	MGI:1926142	-	-	yes	no	no	no	NA
CRK	HGNC:2362	MGI:88508	-	-	no	no	no	no	NA
CRKL	HGNC:2363	MGI:104686	ORPHA:261330	Distal 22Q11.2 Microdeletion Syndrome	no	no	no	no	NA
CRLF1	HGNC:2364	MGI:1340030	OMIM:272430|ORPHA:930|ORPHA:157820|ORPHA:1545	Crisponi/Cold-Induced Sweating Syndrome 1|Idiopathic Achalasia|Cold-Induced Sweating Syndrome|Crisponi Syndrome	no	no	no	no	NA
CRLF2	HGNC:14281	MGI:1889506	-	-	yes	no	no	no	NA
CRLF3	HGNC:17177	MGI:1860086	-	-	yes	no	no	no	NA
CRLS1	HGNC:16148	MGI:1913836	OMIM:620167	Combined Oxidative Phosphorylation Deficiency 57	yes	yes	yes	yes	22.94
CRMP1	HGNC:2365	MGI:107793	-	-	yes	no	no	no	NA
CRNKL1	HGNC:15762	MGI:1914127	-	-	no	no	no	no	NA
CRNN	HGNC:1230	MGI:2685861	-	-	no	no	no	no	NA
CROCC	HGNC:21299	MGI:3529431	-	-	yes	no	no	no	NA
CROCC2	HGNC:51677	MGI:3045962	-	-	no	no	no	no	NA
CROT	HGNC:2366	MGI:1921364	-	-	yes	no	no	no	NA
CRP	HGNC:2367	MGI:88512	-	-	no	no	no	no	NA
CRPPA	HGNC:37276	MGI:1923097	OMIM:614643|OMIM:616052|ORPHA:370980|ORPHA:352479|ORPHA:588|ORPHA:899	Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7|Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7|Congenital Muscular Dystrophy Without Intellectual Disability|Ispd-Related Limb-Girdle Muscular Dystrophy R20|Muscle-Eye-Brain Disease|Walker-Warburg Syndrome	yes	yes	yes	no	NA
CRTAC1	HGNC:14882	MGI:1920082	-	-	yes	no	no	no	NA
CRTAM	HGNC:24313	MGI:1859822	-	-	no	no	no	no	NA
CRTAP	HGNC:2379	MGI:1891221	OMIM:610682|ORPHA:2050|ORPHA:216804|ORPHA:216812|ORPHA:216820	Osteogenesis Imperfecta, Type Vii|Cole-Carpenter Syndrome|Osteogenesis Imperfecta Type 2|Osteogenesis Imperfecta Type 3|Osteogenesis Imperfecta Type 4	no	no	no	no	NA
CRTC1	HGNC:16062	MGI:2142523	-	-	yes	no	no	no	NA
CRTC2	HGNC:27301	MGI:1921593	-	-	no	no	no	no	NA
CRTC3	HGNC:26148	MGI:1917711	-	-	yes	no	no	no	NA
CRX	HGNC:2383	MGI:1194883	OMIM:120970|OMIM:613829|ORPHA:791|ORPHA:1872|ORPHA:65	Cone-Rod Dystrophy 2|Leber Congenital Amaurosis 7|Retinitis Pigmentosa|Cone Rod Dystrophy|Leber Congenital Amaurosis	yes	yes	yes	yes	49.51
CRY1	HGNC:2384	MGI:1270841	OMIM:614163	Delayed Sleep Phase Disorder, Susceptibility To	yes	yes	yes	no	NA
CRY2	HGNC:2385	MGI:1270859	-	-	no	no	no	no	NA
CRYAA	HGNC:2388	MGI:88515	OMIM:604219|ORPHA:1377|ORPHA:441452|ORPHA:98988|ORPHA:98991|ORPHA:98994	Cataract 9, Multiple Types|Cataract-Microcornea Syndrome|Early-Onset Lamellar Cataract|Early-Onset Anterior Polar Cataract|Early-Onset Nuclear Cataract|Total Early-Onset Cataract	no	no	no	no	NA
CRYAB	HGNC:2389	MGI:88516	OMIM:615184|OMIM:613763|OMIM:608810|OMIM:613869|ORPHA:154|ORPHA:280553|ORPHA:399058|ORPHA:441452|ORPHA:98991|ORPHA:98993	Cardiomyopathy, Dilated, 1Ii|Cataract 16, Multiple Types|Myopathy, Myofibrillar, 2|Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related|Familial Isolated Dilated Cardiomyopathy|Fatal Infantile Hypertonic Myofibrillar Myopathy|Alpha-B Crystallin-Related Late-Onset Myopathy|Early-Onset Lamellar Cataract|Early-Onset Nuclear Cataract|Early-Onset Posterior Polar Cataract	yes	no	yes	no	NA
CRYBA1	HGNC:2394	MGI:88518	OMIM:600881|ORPHA:441452|ORPHA:98985|ORPHA:98991|ORPHA:98993	Cataract 10, Multiple Types|Early-Onset Lamellar Cataract|Early-Onset Sutural Cataract|Early-Onset Nuclear Cataract|Early-Onset Posterior Polar Cataract	no	no	no	no	NA
CRYBA2	HGNC:2395	MGI:104336	OMIM:115900|ORPHA:98988|ORPHA:98991	Cataract 42|Early-Onset Anterior Polar Cataract|Early-Onset Nuclear Cataract	yes	no	yes	no	NA
CRYBA4	HGNC:2396	MGI:102716	OMIM:610425|ORPHA:1377|ORPHA:441452	Cataract 23, Multiple Types|Cataract-Microcornea Syndrome|Early-Onset Lamellar Cataract	no	no	no	no	NA
CRYBB1	HGNC:2397	MGI:104992	OMIM:611544|ORPHA:1377|ORPHA:98984|ORPHA:98991	Cataract 17, Multiple Types|Cataract-Microcornea Syndrome|Pulverulent Cataract|Early-Onset Nuclear Cataract	yes	yes	yes	no	NA
CRYBB2	HGNC:2398	MGI:88519	OMIM:601547|ORPHA:1377|ORPHA:441447|ORPHA:98989|ORPHA:98984|ORPHA:98985|ORPHA:98991|ORPHA:98994	Cataract 3, Multiple Types|Cataract-Microcornea Syndrome|Early-Onset Posterior Subcapsular Cataract|Cerulean Cataract|Pulverulent Cataract|Early-Onset Sutural Cataract|Early-Onset Nuclear Cataract|Total Early-Onset Cataract	no	no	no	no	NA
CRYBB3	HGNC:2400	MGI:102717	OMIM:609741|ORPHA:98988|ORPHA:98991	Cataract 22, Multiple Types|Early-Onset Anterior Polar Cataract|Early-Onset Nuclear Cataract	yes	yes	yes	no	NA
CRYBG1	HGNC:356	MGI:109544	-	-	yes	no	no	no	NA
CRYBG2	HGNC:17295	MGI:1334463	-	-	no	no	no	no	NA
CRYBG3	HGNC:34427	MGI:2676311	-	-	no	no	no	no	NA
CRYGA	HGNC:2408	MGI:88521	-	-	no	no	no	no	NA
CRYGB	HGNC:2409	MGI:88522	OMIM:615188|ORPHA:441452|ORPHA:98988|ORPHA:98994	Cataract 39, Multiple Types|Early-Onset Lamellar Cataract|Early-Onset Anterior Polar Cataract|Total Early-Onset Cataract	no	no	no	no	NA
CRYGC	HGNC:2410	MGI:88523	OMIM:604307|ORPHA:1377|ORPHA:441452|ORPHA:98984|ORPHA:98991	Cataract 2, Multiple Types|Cataract-Microcornea Syndrome|Early-Onset Lamellar Cataract|Pulverulent Cataract|Early-Onset Nuclear Cataract	yes	yes	yes	no	NA
CRYGD	HGNC:2411	MGI:88524	OMIM:115700|ORPHA:1377|ORPHA:441452|ORPHA:98990|ORPHA:98989|ORPHA:98984|ORPHA:98991	Cataract 4, Multiple Types|Cataract-Microcornea Syndrome|Early-Onset Lamellar Cataract|Coralliform Cataract|Cerulean Cataract|Pulverulent Cataract|Early-Onset Nuclear Cataract	no	no	no	no	NA
CRYGN	HGNC:20458	MGI:2449167	-	-	yes	no	no	no	NA
CRYGS	HGNC:2417	MGI:1298216	OMIM:116100|ORPHA:441452|ORPHA:98985	Cataract 20, Multiple Types|Early-Onset Lamellar Cataract|Early-Onset Sutural Cataract	yes	no	yes	no	NA
CRYL1	HGNC:18246	MGI:1915881	-	-	no	no	no	no	NA
CRYM	HGNC:2418	MGI:102675	OMIM:616357|ORPHA:90635	Deafness, Autosomal Dominant 40|Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	yes	no	yes	no	NA
CRYZ	HGNC:2419	MGI:88527	-	-	no	no	no	no	NA
CRYZL1	HGNC:2420	MGI:1913859	-	-	yes	no	no	no	NA
CSAD	HGNC:18966	MGI:2180098	-	-	no	no	no	no	NA
CSDC2	HGNC:30359	MGI:2146027	-	-	no	no	no	no	NA
CSDE1	HGNC:29905	MGI:92356	-	-	no	no	no	no	NA
CSE1L	HGNC:2431	MGI:1339951	-	-	no	no	no	no	NA
CSF1	HGNC:2432	MGI:1339753	-	-	no	no	no	no	NA
CSF1R	HGNC:2433	MGI:1339758	OMIM:618476|OMIM:221820|ORPHA:313808|ORPHA:556985	Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis|Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1|Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids And Pigmented Glia|Early-Onset Calcifying Leukoencephalopathy-Skeletal Dysplasia	yes	yes	yes	no	NA
CSF2	HGNC:2434	MGI:1339752	-	-	yes	no	no	no	NA
CSF2RA	HGNC:2435	MGI:1339754	OMIM:300770|ORPHA:264675	Surfactant Metabolism Dysfunction, Pulmonary, 4|Hereditary Pulmonary Alveolar Proteinosis	no	no	no	no	NA
CSF3	HGNC:2438	MGI:1339751	-	-	yes	no	no	no	NA
CSF3R	HGNC:2439	MGI:1339755	OMIM:162830|OMIM:617014|ORPHA:279943|ORPHA:420702|ORPHA:86829|ORPHA:98824	Neutrophilia, Hereditary|Neutropenia, Severe Congenital, 7, Autosomal Recessive|Hereditary Neutrophilia|Autosomal Recessive Severe Congenital Neutropenia Due To Csf3R Deficiency|Chronic Neutrophilic Leukemia|Atypical Chronic Myeloid Leukemia	yes	yes	yes	yes	26.91
CSGALNACT1	HGNC:24290	MGI:2442354	OMIM:618870|ORPHA:1425	Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age|Desbuquois Syndrome	no	no	no	no	NA
CSGALNACT2	HGNC:24292	MGI:1926002	-	-	no	no	no	no	NA
CSK	HGNC:2444	MGI:88537	-	-	yes	no	no	no	NA
CSMD1	HGNC:14026	MGI:2137383	-	-	yes	no	no	no	NA
CSMD2	HGNC:19290	MGI:2386401	-	-	no	no	no	no	NA
CSMD3	HGNC:19291	MGI:2386403	-	-	yes	no	no	no	NA
CSN1S1	HGNC:2445	MGI:88540	-	-	no	no	no	no	NA
CSN2	HGNC:2447	MGI:88541	-	-	no	no	no	no	NA
CSN3	HGNC:2446	MGI:107461	-	-	no	no	no	no	NA
CSNK1A1	HGNC:2451	MGI:1934950	-	-	no	no	no	no	NA
CSNK1D	HGNC:2452	MGI:1355272	OMIM:615224|ORPHA:164736	Advanced Sleep Phase Syndrome, Familial, 2|Familial Advanced Sleep-Phase Syndrome	no	no	no	no	NA
CSNK1E	HGNC:2453	MGI:1351660	-	-	no	no	no	no	NA
CSNK1G1	HGNC:2454	MGI:2660884	-	-	yes	no	no	no	NA
CSNK1G2	HGNC:2455	MGI:1920014	-	-	yes	no	no	no	NA
CSNK1G3	HGNC:2456	MGI:1917675	-	-	yes	no	no	no	NA
CSNK2A1	HGNC:2457	MGI:88543	OMIM:617062|ORPHA:528084	Okur-Chung Neurodevelopmental Syndrome|Non-Specific Syndromic Intellectual Disability	no	no	no	no	NA
CSNK2A2	HGNC:2459	MGI:88547	-	-	yes	no	no	no	NA
CSNK2B	HGNC:2460	MGI:88548	OMIM:618732|ORPHA:178469	Poirier-Bienvenu Neurodevelopmental Syndrome|Autosomal Dominant Non-Syndromic Intellectual Disability	no	no	no	no	NA
CSNKA2IP	HGNC:53637	MGI:2676295	-	-	no	no	no	no	NA
CSPG4	HGNC:2466	MGI:2153093	-	-	yes	no	no	no	NA
CSPG5	HGNC:2467	MGI:1352747	-	-	no	no	no	no	NA
CSPP1	HGNC:26193	MGI:2681832	OMIM:615636|ORPHA:564|ORPHA:475|ORPHA:397715	Joubert Syndrome 21|Meckel Syndrome|Joubert Syndrome|Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	yes	yes	yes	yes	17.665
CSRNP1	HGNC:14300	MGI:2387989	-	-	no	no	no	no	NA
CSRNP2	HGNC:16006	MGI:2386852	-	-	no	no	no	no	NA
CSRNP3	HGNC:30729	MGI:1925021	-	-	no	no	no	no	NA
CSRP1	HGNC:2469	MGI:88549	-	-	yes	no	no	no	NA
CSRP2	HGNC:2470	MGI:1202907	-	-	no	no	no	no	NA
CSRP3	HGNC:2472	MGI:1330824	OMIM:607482|OMIM:612124|ORPHA:154|ORPHA:155	Cardiomyopathy, Dilated, 1M|Cardiomyopathy, Familial Hypertrophic, 12|Familial Isolated Dilated Cardiomyopathy|Non Rare In Europe: Familial Isolated Hypertrophic Cardiomyopathy	no	no	no	no	NA
CST11	HGNC:15959	MGI:1925490	-	-	no	no	no	no	NA
CST3	HGNC:2475	MGI:102519	OMIM:105150|OMIM:611953|ORPHA:100008	Cerebral Amyloid Angiopathy, Cst3-Related|Macular Degeneration, Age-Related, 11|Acys Amyloidosis	yes	yes	yes	no	NA
CST5	HGNC:2477	MGI:1930004	-	-	no	no	no	no	NA
CST6	HGNC:2478	MGI:1920970	OMIM:618535	Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	yes	yes	yes	yes	13
CST7	HGNC:2479	MGI:1298217	-	-	no	no	no	no	NA
CST8	HGNC:2480	MGI:107161	-	-	no	no	no	no	NA
CSTB	HGNC:2482	MGI:109514	OMIM:254800|ORPHA:308|ORPHA:248	Myoclonic Epilepsy Of Unverricht And Lundborg|Progressive Myoclonic Epilepsy Type 1|Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	yes	yes	yes	yes	37.17
CSTF1	HGNC:2483	MGI:1914587	-	-	yes	no	no	no	NA
CSTF2	HGNC:2484	MGI:1343054	-	-	yes	no	no	no	NA
CSTF2T	HGNC:17086	MGI:1932622	-	-	no	no	no	no	NA
CSTF3	HGNC:2485	MGI:1351825	-	-	yes	no	no	no	NA
CSTL1	HGNC:15958	MGI:2652834	-	-	no	no	no	no	NA
CSTPP1	HGNC:28720	MGI:1915079	-	-	no	no	no	no	NA
CTBP1	HGNC:2494	MGI:1201685	OMIM:617915|ORPHA:280	Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome|Wolf-Hirschhorn Syndrome	yes	yes	yes	no	NA
CTBP2	HGNC:2495	MGI:1201686	-	-	yes	no	no	no	NA
CTBS	HGNC:2496	MGI:1921495	-	-	yes	no	no	no	NA
CTC1	HGNC:26169	MGI:1916214	OMIM:612199|ORPHA:1775|ORPHA:313838	Cerebroretinal Microangiopathy With Calcifications And Cysts 1|Dyskeratosis Congenita|Coats Plus Syndrome	yes	yes	yes	no	NA
CTCF	HGNC:13723	MGI:109447	OMIM:615502|ORPHA:363611	Intellectual Developmental Disorder, Autosomal Dominant 21|Ctcf-Related Neurodevelopmental Disorder	yes	no	yes	no	NA
CTCFL	HGNC:16234	MGI:3652571	-	-	no	no	no	no	NA
CTDNEP1	HGNC:19085	MGI:1914431	-	-	no	no	no	no	NA
CTDP1	HGNC:2498	MGI:1926953	OMIM:604168|ORPHA:48431	Congenital Cataracts, Facial Dysmorphism, And Neuropathy|Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	yes	yes	yes	no	NA
CTDSP1	HGNC:21614	MGI:2654470	-	-	yes	no	no	no	NA
CTDSP2	HGNC:17077	MGI:1098748	-	-	no	no	no	no	NA
CTDSPL	HGNC:16890	MGI:1916524	-	-	yes	no	no	no	NA
CTDSPL2	HGNC:26936	MGI:1196405	-	-	yes	no	no	no	NA
CTF1	HGNC:2499	MGI:105115	-	-	no	no	no	no	NA
CTH	HGNC:2501	MGI:1339968	OMIM:219500|ORPHA:212	Cystathioninuria	yes	yes	yes	no	NA
CTHRC1	HGNC:18831	MGI:1915838	OMIM:614266	Barrett Esophagus	yes	yes	yes	no	NA
CTIF	HGNC:23925	MGI:2685518	-	-	yes	no	no	no	NA
CTLA4	HGNC:2505	MGI:88556	OMIM:140300|OMIM:616100|OMIM:609755|OMIM:601388|OMIM:152700|ORPHA:536|ORPHA:900|ORPHA:2584|ORPHA:3162|ORPHA:391490|ORPHA:436159	Hashimoto Thyroiditis|Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation|Celiac Disease, Susceptibility To, 3|Type 1 Diabetes Mellitus 12|Systemic Lupus Erythematosus|Granulomatosis With Polyangiitis|Classic Mycosis Fungoides|Sézary Syndrome|Adult-Onset Myasthenia Gravis|Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	no	no	no	no	NA
CTNNA1	HGNC:2509	MGI:88274	OMIM:608970|ORPHA:26106|ORPHA:99001	Macular Dystrophy, Patterned, 2|Hereditary Diffuse Gastric Cancer|Butterfly-Shaped Pigment Dystrophy	no	no	no	no	NA
CTNNA2	HGNC:2510	MGI:88275	OMIM:618174	Cortical Dysplasia, Complex, With Other Brain Malformations 9	no	no	no	no	NA
CTNNA3	HGNC:2511	MGI:2661445	OMIM:615616|ORPHA:293910|ORPHA:293899|ORPHA:293888	Arrhythmogenic Right Ventricular Dysplasia, Familial, 13|Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form|Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form|Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form	no	no	no	no	NA
CTNNAL1	HGNC:2512	MGI:1859649	-	-	yes	no	no	no	NA
CTNNB1	HGNC:2514	MGI:88276	OMIM:114500|OMIM:617572|OMIM:114550|OMIM:155255|OMIM:615075|OMIM:167000|OMIM:132600|ORPHA:210159|ORPHA:1501|ORPHA:891|ORPHA:404473|ORPHA:873|ORPHA:54595|ORPHA:569248|ORPHA:33402|ORPHA:91414|ORPHA:85142	Colorectal Cancer|Exudative Vitreoretinopathy 7|Hepatocellular Carcinoma|Medulloblastoma|Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects|Ovarian Cancer|Pilomatrixoma|Adult Hepatocellular Carcinoma|Adrenocortical Carcinoma|Familial Exudative Vitreoretinopathy|Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome|Desmoid Tumor|Craniopharyngioma|Microcystic Stromal Tumor|Pediatric Hepatocellular Carcinoma|Non Rare In Europe: Aldosterone-Producing Adenoma	yes	yes	yes	yes	37.335
CTNNBIP1	HGNC:16913	MGI:1915756	-	-	yes	no	no	no	NA
CTNNBL1	HGNC:15879	MGI:1913892	OMIM:619846	Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	no	no	no	no	NA
CTNND1	HGNC:2515	MGI:105100	OMIM:617681|ORPHA:1997	Blepharocheilodontic Syndrome 2|Blepharo-Cheilo-Odontic Syndrome	no	no	no	no	NA
CTNND2	HGNC:2516	MGI:1195966	ORPHA:281|ORPHA:86814	Monosomy 5P|Benign Adult Familial Myoclonic Epilepsy	no	no	no	no	NA
CTNS	HGNC:2518	MGI:1932872	OMIM:219800|OMIM:219900|OMIM:219750|ORPHA:411629|ORPHA:411641|ORPHA:411634	Cystinosis, Nephropathic|Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type|Cystinosis, Adult Nonnephropathic|Infantile Nephropathic Cystinosis|Ocular Cystinosis|Juvenile Nephropathic Cystinosis	no	no	no	no	NA
CTPS1	HGNC:2519	MGI:1858304	OMIM:615897|ORPHA:420573	Immunodeficiency 24|Severe Combined Immunodeficiency Due To Ctps1 Deficiency	yes	yes	yes	no	NA
CTPS2	HGNC:2520	MGI:1933185	-	-	yes	no	no	no	NA
CTR9	HGNC:16850	MGI:109345	-	-	yes	no	no	no	NA
CTRC	HGNC:2523	MGI:1923951	OMIM:167800|ORPHA:676|ORPHA:64740|ORPHA:103918	Pancreatitis, Hereditary|Hereditary Chronic Pancreatitis|Non Rare In Europe: Recurrent Acute Pancreatitis|Tropical Pancreatitis	yes	yes	yes	yes	24.18
CTRL	HGNC:2524	MGI:88558	-	-	no	no	no	no	NA
CTSA	HGNC:9251	MGI:97748	OMIM:256540|ORPHA:351|ORPHA:575553	Galactosialidosis|Cathepsin A-Related Arteriopathy-Strokes-Leukoencephalopathy	yes	yes	yes	yes	37.205
CTSB	HGNC:2527	MGI:88561	OMIM:148370|ORPHA:50943	Keratolytic Winter Erythema	no	no	no	no	NA
CTSC	HGNC:2528	MGI:109553	OMIM:245010|OMIM:245000|OMIM:170650|ORPHA:2342|ORPHA:678	Haim-Munk Syndrome|Papillon-Lefevre Syndrome|Periodontitis, Aggressive, 1|Papillon-Lefèvre Syndrome	no	no	no	no	NA
CTSD	HGNC:2529	MGI:88562	OMIM:610127|ORPHA:228337	Ceroid Lipofuscinosis, Neuronal, 10|Cln10 Disease	yes	yes	yes	yes	25.015
CTSE	HGNC:2530	MGI:107361	-	-	no	no	no	no	NA
CTSF	HGNC:2531	MGI:1861434	OMIM:615362|ORPHA:352709	Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)|Cln13 Disease	no	no	no	no	NA
CTSG	HGNC:2532	MGI:88563	-	-	no	no	no	no	NA
CTSH	HGNC:2535	MGI:107285	ORPHA:2073	Narcolepsy Type 1	yes	yes	yes	no	NA
CTSK	HGNC:2536	MGI:107823	OMIM:265800|ORPHA:763	Pycnodysostosis	yes	yes	yes	yes	51.975
CTSO	HGNC:2542	MGI:2139628	-	-	yes	no	no	no	NA
CTSS	HGNC:2545	MGI:107341	-	-	yes	no	no	no	NA
CTSV	HGNC:2538	MGI:88564	-	-	yes	no	no	no	NA
CTSW	HGNC:2546	MGI:1338045	-	-	no	no	no	no	NA
CTSZ	HGNC:2547	MGI:1891190	-	-	yes	no	no	no	NA
CTTN	HGNC:3338	MGI:99695	-	-	yes	no	no	no	NA
CTTNBP2	HGNC:15679	MGI:1353467	-	-	yes	no	no	no	NA
CTTNBP2NL	HGNC:25330	MGI:1933137	-	-	yes	no	no	no	NA
CTU1	HGNC:29590	MGI:2385277	-	-	no	no	no	no	NA
CTU2	HGNC:28005	MGI:1914215	OMIM:618142	Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	yes	yes	yes	no	NA
CTXN1	HGNC:31108	MGI:88566	-	-	no	no	no	no	NA
CTXN2	HGNC:31109	MGI:2139444	-	-	no	no	no	no	NA
CTXN3	HGNC:31110	MGI:3642816	-	-	no	no	no	no	NA
CTXND1	HGNC:50507	MGI:3780284	-	-	no	no	no	no	NA
CTXND2	HGNC:53440	MGI:1914904	-	-	no	no	no	no	NA
CUBN	HGNC:2548	MGI:1931256	OMIM:261100|OMIM:618884|ORPHA:35858	Imerslund-Grasbeck Syndrome 1|Proteinuria, Chronic Benign|Imerslund-Gräsbeck Syndrome	yes	yes	yes	no	NA
CUEDC1	HGNC:31350	MGI:2144281	-	-	yes	no	no	no	NA
CUEDC2	HGNC:28352	MGI:1914366	-	-	no	no	no	no	NA
CUL1	HGNC:2551	MGI:1349658	-	-	no	no	no	no	NA
CUL2	HGNC:2552	MGI:1918995	-	-	yes	no	no	no	NA
CUL3	HGNC:2553	MGI:1347360	OMIM:619239|OMIM:614496|ORPHA:300530	Neurodevelopmental Disorder With Or Without Autism Or Seizures|Pseudohypoaldosteronism, Type Iie|Pseudohypoaldosteronism Type 2E	no	no	no	no	NA
CUL4A	HGNC:2554	MGI:1914487	-	-	yes	no	no	no	NA
CUL4B	HGNC:2555	MGI:1919834	OMIM:300354|ORPHA:85293	Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type|X-Linked Intellectual Disability, Cabezas Type	no	no	no	no	NA
CUL5	HGNC:2556	MGI:1922967	-	-	yes	no	no	no	NA
CUL7	HGNC:21024	MGI:1913765	OMIM:273750|ORPHA:2616	Three M Syndrome 1|3M Syndrome	yes	yes	yes	yes	19.76
CUL9	HGNC:15982	MGI:1925559	-	-	yes	no	no	no	NA
CUTA	HGNC:21101	MGI:1914925	-	-	yes	no	no	no	NA
CUTC	HGNC:24271	MGI:1913638	-	-	no	no	no	no	NA
CUX1	HGNC:2557	MGI:88568	OMIM:618330|ORPHA:178469	Global Developmental Delay With Or Without Impaired Intellectual Development|Autosomal Dominant Non-Syndromic Intellectual Disability	no	no	no	no	NA
CUX2	HGNC:19347	MGI:107321	OMIM:618141|ORPHA:2382	Developmental And Epileptic Encephalopathy 67|Lennox-Gastaut Syndrome	no	no	no	no	NA
CUZD1	HGNC:17937	MGI:1202881	-	-	no	no	no	no	NA
CWC15	HGNC:26939	MGI:1913320	-	-	no	no	no	no	NA
CWC25	HGNC:25989	MGI:1914730	-	-	no	no	no	no	NA
CWC27	HGNC:10664	MGI:1914535	OMIM:250410|ORPHA:166035	Retinitis Pigmentosa With Or Without Skeletal Anomalies|Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	yes	yes	yes	yes	15.555
CWF19L1	HGNC:25613	MGI:1919752	OMIM:616127|ORPHA:453521	Spinocerebellar Ataxia, Autosomal Recessive 17|Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	no	no	no	no	NA
CWF19L2	HGNC:26508	MGI:1918023	-	-	no	no	no	no	NA
CWH43	HGNC:26133	MGI:2444131	-	-	yes	no	no	no	NA
CX3CL1	HGNC:10647	MGI:1097153	-	-	yes	no	no	no	NA
CX3CR1	HGNC:2558	MGI:1333815	OMIM:609423|OMIM:607339|OMIM:613784|ORPHA:279	Human Immunodeficiency Virus Type 1, Susceptibility To|Coronary Heart Disease, Susceptibility To, 1|Macular Degeneration, Age-Related, 12|Non Rare In Europe: Age-Related Macular Degeneration	yes	yes	no	no	NA
CXADR	HGNC:2559	MGI:1201679	-	-	yes	no	no	no	NA
CXCL10	HGNC:10637	MGI:1352450	-	-	yes	no	no	no	NA
CXCL12	HGNC:10672	MGI:103556	OMIM:609423	Human Immunodeficiency Virus Type 1, Susceptibility To	yes	yes	no	no	NA
CXCL13	HGNC:10639	MGI:1888499	-	-	yes	no	no	no	NA
CXCL14	HGNC:10640	MGI:1888514	-	-	yes	no	no	no	NA
CXCL16	HGNC:16642	MGI:1932682	-	-	no	no	no	no	NA
CXCL17	HGNC:19232	MGI:2387642	-	-	yes	no	no	no	NA
CXCL9	HGNC:7098	MGI:1352449	-	-	yes	no	no	no	NA
CXCR1	HGNC:6026	MGI:2448715	OMIM:609423	Human Immunodeficiency Virus Type 1, Susceptibility To	yes	yes	no	no	NA
CXCR2	HGNC:6027	MGI:105303	OMIM:619407|ORPHA:420699	Whim Syndrome 2|Autosomal Recessive Severe Congenital Neutropenia Due To Cxcr2 Deficiency	yes	yes	yes	yes	64.695
CXCR3	HGNC:4540	MGI:1277207	-	-	no	no	no	no	NA
CXCR4	HGNC:2561	MGI:109563	OMIM:193670|ORPHA:51636	Whim Syndrome 1|Whim Syndrome	yes	yes	yes	yes	38.14
CXCR5	HGNC:1060	MGI:103567	-	-	no	no	no	no	NA
CXCR6	HGNC:16647	MGI:1934582	-	-	no	no	no	no	NA
CXXC1	HGNC:24343	MGI:1921572	-	-	no	no	no	no	NA
CXXC4	HGNC:24593	MGI:2442112	-	-	yes	no	no	no	NA
CXXC5	HGNC:26943	MGI:1914643	-	-	no	no	no	no	NA
CXorf38	HGNC:28589	MGI:1916405	-	-	no	no	no	no	NA
CXorf65	HGNC:33713	MGI:2685460	-	-	yes	no	no	no	NA
CXorf66	HGNC:33743	MGI:3779666	-	-	no	no	no	no	NA
CYB561	HGNC:2571	MGI:103253	OMIM:618182	Orthostatic Hypotension 2	yes	yes	yes	yes	39.61
CYB561A3	HGNC:23014	MGI:2686925	-	-	yes	no	no	no	NA
CYB561D1	HGNC:26804	MGI:1919273	-	-	no	no	no	no	NA
CYB561D2	HGNC:30253	MGI:1929280	-	-	yes	no	no	no	NA
CYB5A	HGNC:2570	MGI:1926952	OMIM:250790|ORPHA:621|ORPHA:90796	Methemoglobinemia And Ambiguous Genitalia|Hereditary Methemoglobinemia|46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	no	no	no	no	NA
CYB5B	HGNC:24374	MGI:1913677	-	-	yes	no	no	no	NA
CYB5D1	HGNC:26516	MGI:2685586	-	-	yes	no	no	no	NA
CYB5D2	HGNC:28471	MGI:2684848	-	-	yes	no	no	no	NA
CYB5R1	HGNC:13397	MGI:1919267	-	-	no	no	no	no	NA
CYB5R2	HGNC:24376	MGI:2444415	-	-	yes	no	no	no	NA
CYB5R3	HGNC:2873	MGI:94893	OMIM:250800|ORPHA:621	Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase|Hereditary Methemoglobinemia	yes	yes	yes	no	NA
CYB5R4	HGNC:20147	MGI:2386848	-	-	no	no	no	no	NA
CYB5RL	HGNC:32220	MGI:1919657	-	-	no	no	no	no	NA
CYBA	HGNC:2577	MGI:1316658	OMIM:233690|ORPHA:379	Granulomatous Disease, Chronic, Autosomal Recessive, 4|Chronic Granulomatous Disease	yes	yes	yes	yes	25.4
CYBB	HGNC:2578	MGI:88574	OMIM:306400|OMIM:300645|ORPHA:379|ORPHA:319623	Granulomatous Disease, Chronic, X-Linked|Immunodeficiency 34|Chronic Granulomatous Disease|X-Linked Mendelian Susceptibility To Mycobacterial Diseases Due To Cybb Deficiency	yes	yes	yes	yes	41.73
CYBC1	HGNC:28672	MGI:2384959	OMIM:618935|ORPHA:379	Granulomatous Disease, Chronic, Autosomal Recessive, 5|Chronic Granulomatous Disease	yes	yes	yes	yes	21.825
CYBRD1	HGNC:20797	MGI:2654575	-	-	yes	no	no	no	NA
CYC1	HGNC:2579	MGI:1913695	OMIM:615453|ORPHA:1460	Mitochondrial Complex Iii Deficiency, Nuclear Type 6|Isolated Complex Iii Deficiency	yes	yes	yes	no	NA
CYFIP1	HGNC:13759	MGI:1338801	-	-	yes	no	no	no	NA
CYFIP2	HGNC:13760	MGI:1924134	OMIM:618008|ORPHA:442835	Developmental And Epileptic Encephalopathy 65|Non-Specific Early-Onset Epileptic Encephalopathy	yes	yes	yes	no	NA
CYGB	HGNC:16505	MGI:2149481	-	-	yes	no	no	no	NA
CYLC1	HGNC:2582	MGI:1914657	-	-	no	no	no	no	NA
CYLC2	HGNC:2583	MGI:1922164	-	-	no	no	no	no	NA
CYLD	HGNC:2584	MGI:1921506	OMIM:619132|OMIM:605041|OMIM:132700|OMIM:601606|ORPHA:867|ORPHA:211	Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8|Brooke-Spiegler Syndrome|Cylindromatosis, Familial|Trichoepithelioma, Multiple Familial, 1|Familial Multiple Trichoepithelioma|Familial Cylindromatosis	yes	yes	yes	yes	35.66
CYP11A1	HGNC:2590	MGI:88582	OMIM:613743|ORPHA:168558|ORPHA:289548	Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete|46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency|Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	yes	yes	yes	no	NA
CYP17A1	HGNC:2593	MGI:88586	OMIM:202110|ORPHA:90793|ORPHA:90796	Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency|Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency|46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	yes	yes	yes	yes	43.385
CYP19A1	HGNC:2594	MGI:88587	OMIM:613546|OMIM:139300|ORPHA:178345|ORPHA:91	Aromatase Deficiency|Aromatase Excess Syndrome	yes	yes	yes	yes	31.22
CYP1A1	HGNC:2595	MGI:88588	-	-	no	no	no	no	NA
CYP1A2	HGNC:2596	MGI:88589	-	-	no	no	no	no	NA
CYP1B1	HGNC:2597	MGI:88590	OMIM:617315|OMIM:231300|ORPHA:708|ORPHA:353225|ORPHA:98976|ORPHA:98977	Anterior Segment Dysgenesis 6|Glaucoma 3, Primary Congenital, A|Peters Anomaly|Non Rare In Europe: Primary Adult Open-Angle Glaucoma|Congenital Glaucoma|Juvenile Glaucoma	no	no	no	no	NA
CYP20A1	HGNC:20576	MGI:1925201	-	-	yes	no	no	no	NA
CYP21A2	HGNC:2600	MGI:88591	OMIM:201910|ORPHA:315311|ORPHA:315306|ORPHA:95698	Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency|Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency, Simple Virilizing Form|Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency, Salt Wasting Form|Non Rare In Europe: Non-Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	yes	yes	yes	no	NA
CYP24A1	HGNC:2602	MGI:88593	OMIM:143880|ORPHA:300547	Hypercalcemia, Infantile, 1|Autosomal Recessive Infantile Hypercalcemia	no	no	no	no	NA
CYP26A1	HGNC:2603	MGI:1096359	-	-	no	no	no	no	NA
CYP26B1	HGNC:20581	MGI:2176159	OMIM:614416|ORPHA:293925	Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies|Lethal Occipital Encephalocele-Skeletal Dysplasia Syndrome	no	no	no	no	NA
CYP26C1	HGNC:20577	MGI:2679699	OMIM:614974|ORPHA:398189	Focal Facial Dermal Dysplasia 4|Focal Facial Dermal Dysplasia Type Iv	no	no	no	no	NA
CYP27A1	HGNC:2605	MGI:88594	OMIM:213700|ORPHA:909	Cerebrotendinous Xanthomatosis	yes	yes	yes	yes	33.425
CYP27B1	HGNC:2606	MGI:1098274	OMIM:264700|ORPHA:289157	Vitamin D Hydroxylation-Deficient Rickets, Type 1A|Hypocalcemic Vitamin D-Dependent Rickets	yes	yes	yes	yes	74.045
CYP2C18	HGNC:2620	MGI:1919332	-	-	no	no	no	no	NA
CYP2E1	HGNC:2631	MGI:88607	-	-	yes	no	no	no	NA
CYP2F1	HGNC:2632	MGI:88608	-	-	yes	no	no	no	NA
CYP2R1	HGNC:20580	MGI:2449771	OMIM:600081|ORPHA:289157	Vitamin D Hydroxylation-Deficient Rickets, Type 1B|Hypocalcemic Vitamin D-Dependent Rickets	yes	no	yes	no	NA
CYP2S1	HGNC:15654	MGI:1921384	-	-	no	no	no	no	NA
CYP2U1	HGNC:20582	MGI:1918769	OMIM:615030|ORPHA:320411	Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum|Autosomal Recessive Spastic Paraplegia Type 56	yes	yes	yes	yes	36.405
CYP2W1	HGNC:20243	MGI:3616076	-	-	no	no	no	no	NA
CYP39A1	HGNC:17449	MGI:1927096	-	-	yes	no	no	no	NA
CYP46A1	HGNC:2641	MGI:1341877	-	-	no	no	no	no	NA
CYP4B1	HGNC:2644	MGI:103225	-	-	yes	no	no	no	NA
CYP4F22	HGNC:26820	MGI:2445210	OMIM:604777|ORPHA:313	Ichthyosis, Congenital, Autosomal Recessive 5|Lamellar Ichthyosis	yes	yes	yes	no	NA
CYP4V2	HGNC:23198	MGI:2142763	OMIM:210370|ORPHA:41751	Bietti Crystalline Corneoretinal Dystrophy|Bietti Crystalline Dystrophy	yes	yes	yes	no	NA
CYP4X1	HGNC:20244	MGI:1932403	-	-	no	no	no	no	NA
CYP51A1	HGNC:2649	MGI:106040	ORPHA:521432	Congenital Cataract-Severe Neonatal Hepatopathy-Global Developmental Delay Syndrome	no	no	no	no	NA
CYP7A1	HGNC:2651	MGI:106091	ORPHA:209902	Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	yes	yes	yes	yes	48.615
CYP7B1	HGNC:2652	MGI:104978	OMIM:613812|OMIM:270800|ORPHA:79302|ORPHA:100986	Bile Acid Synthesis Defect, Congenital, 3|Spastic Paraplegia 5A, Autosomal Recessive|Congenital Bile Acid Synthesis Defect Type 3|Autosomal Recessive Spastic Paraplegia Type 5A	yes	yes	yes	yes	25.995
CYP8B1	HGNC:2653	MGI:1338044	-	-	no	no	no	no	NA
CYREN	HGNC:22432	MGI:1925662	-	-	yes	no	no	no	NA
CYRIA	HGNC:25373	MGI:1261783	-	-	yes	no	no	no	NA
CYRIB	HGNC:25216	MGI:1923520	-	-	yes	no	no	no	NA
CYS1	HGNC:18525	MGI:2177632	-	-	no	no	no	no	NA
CYSLTR1	HGNC:17451	MGI:1926218	-	-	yes	no	no	no	NA
CYSLTR2	HGNC:18274	MGI:1917336	ORPHA:39044	Uveal Melanoma	yes	yes	yes	no	NA
CYSRT1	HGNC:30529	MGI:1915109	-	-	no	no	no	no	NA
CYSTM1	HGNC:30239	MGI:1913310	-	-	yes	no	no	no	NA
CYTH1	HGNC:9501	MGI:1334257	-	-	no	no	no	no	NA
CYTH2	HGNC:9502	MGI:1334255	-	-	no	no	no	no	NA
CYTH3	HGNC:9504	MGI:1335107	-	-	no	no	no	no	NA
CYTH4	HGNC:9505	MGI:2441702	-	-	no	no	no	no	NA
CYTIP	HGNC:9506	MGI:2183535	-	-	yes	no	no	no	NA
CYTL1	HGNC:24435	MGI:2684993	-	-	no	no	no	no	NA
CYYR1	HGNC:16274	MGI:2152187	-	-	no	no	no	no	NA
CZIB	HGNC:26059	MGI:1921348	-	-	no	no	no	no	NA
D2HGDH	HGNC:28358	MGI:2138209	OMIM:600721|ORPHA:79315	D-2-Hydroxyglutaric Aciduria 1|D-2-Hydroxyglutaric Aciduria	no	no	no	no	NA
DAAM1	HGNC:18142	MGI:1914596	-	-	yes	no	no	no	NA
DAAM2	HGNC:18143	MGI:1923691	OMIM:619263|ORPHA:656	Nephrotic Syndrome, Type 24|Genetic Steroid-Resistant Nephrotic Syndrome	yes	yes	yes	yes	33.035
DAB1	HGNC:2661	MGI:108554	OMIM:615945|ORPHA:363710	Spinocerebellar Ataxia 37|Spinocerebellar Ataxia Type 37	no	no	no	no	NA
DAB2	HGNC:2662	MGI:109175	-	-	no	no	no	no	NA
DAB2IP	HGNC:17294	MGI:1916851	-	-	no	no	no	no	NA
DACH1	HGNC:2663	MGI:1277991	-	-	yes	no	no	no	NA
DACH2	HGNC:16814	MGI:1890446	-	-	yes	no	no	no	NA
DACT1	HGNC:17748	MGI:1891740	OMIM:617466|ORPHA:857|ORPHA:268823|ORPHA:63260	Townes-Brocks Syndrome 2|Townes-Brocks Syndrome|Occipital Encephalocele|Craniorachischisis	no	no	no	no	NA
DACT2	HGNC:21231	MGI:1920347	-	-	yes	no	no	no	NA
DACT3	HGNC:30745	MGI:3654828	-	-	yes	no	no	no	NA
DAD1	HGNC:2664	MGI:101912	-	-	no	no	no	no	NA
DAG1	HGNC:2666	MGI:101864	OMIM:616538|OMIM:613818|ORPHA:280333|ORPHA:370997|ORPHA:899	Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9|Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9|Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16|Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy|Walker-Warburg Syndrome	no	no	no	no	NA
DAGLA	HGNC:1165	MGI:2677061	-	-	yes	no	no	no	NA
DAGLB	HGNC:28923	MGI:2442032	-	-	no	no	no	no	NA
DALRD3	HGNC:25536	MGI:1915039	OMIM:618910|ORPHA:442835	Developmental And Epileptic Encephalopathy 86|Non-Specific Early-Onset Epileptic Encephalopathy	yes	yes	yes	yes	26.88
DAND5	HGNC:26780	MGI:1344365	-	-	no	no	no	no	NA
DAO	HGNC:2671	MGI:94859	ORPHA:803	Amyotrophic Lateral Sclerosis	no	no	no	no	NA
DAP	HGNC:2672	MGI:1918190	-	-	yes	no	no	no	NA
DAP3	HGNC:2673	MGI:1929538	-	-	yes	no	no	no	NA
DAPK1	HGNC:2674	MGI:1916885	-	-	yes	no	no	no	NA
DAPK2	HGNC:2675	MGI:1341297	-	-	yes	no	no	no	NA
DAPK3	HGNC:2676	MGI:1203520	-	-	yes	no	no	no	NA
DAPL1	HGNC:21490	MGI:1923997	-	-	yes	no	no	no	NA
DAPP1	HGNC:16500	MGI:1347063	-	-	no	no	no	no	NA
DARS1	HGNC:2678	MGI:2442544	OMIM:615281|ORPHA:363412	Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity|Hypomyelination With Brain Stem And Spinal Cord Involvement And Leg Spasticity	no	no	no	no	NA
DARS2	HGNC:25538	MGI:2442510	OMIM:611105|ORPHA:137898	Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation|Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	yes	yes	yes	no	NA
DAW1	HGNC:26383	MGI:1923089	-	-	no	no	no	no	NA
DAXX	HGNC:2681	MGI:1197015	ORPHA:100075	Neuroendocrine Tumor Of Stomach	yes	yes	yes	yes	21.51
DAZAP1	HGNC:2683	MGI:1917498	-	-	yes	no	no	no	NA
DAZAP2	HGNC:2684	MGI:1344344	-	-	yes	no	no	no	NA
DAZL	HGNC:2685	MGI:1342328	-	-	yes	no	no	no	NA
DBF4	HGNC:17364	MGI:1351328	-	-	yes	no	no	no	NA
DBH	HGNC:2689	MGI:94864	OMIM:223360|ORPHA:230	Orthostatic Hypotension 1|Dopamine Beta-Hydroxylase Deficiency	no	no	no	no	NA
DBI	HGNC:2690	MGI:94865	-	-	no	no	no	no	NA
DBN1	HGNC:2695	MGI:1931838	-	-	yes	no	no	no	NA
DBNDD1	HGNC:28455	MGI:1919435	-	-	no	no	no	no	NA
DBNDD2	HGNC:15881	MGI:106562	-	-	yes	no	no	no	NA
DBNL	HGNC:2696	MGI:700006	-	-	yes	no	no	no	NA
DBP	HGNC:2697	MGI:94866	-	-	no	no	no	no	NA
DBR1	HGNC:15594	MGI:1931520	OMIM:620510|OMIM:619441	Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome|Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11	yes	yes	yes	no	NA
DBT	HGNC:2698	MGI:105386	OMIM:248600|ORPHA:268162|ORPHA:268145|ORPHA:268184|ORPHA:268173	Maple Syrup Urine Disease|Intermediate Maple Syrup Urine Disease|Classic Maple Syrup Urine Disease|Thiamine-Responsive Maple Syrup Urine Disease|Intermittent Maple Syrup Urine Disease	no	no	no	no	NA
DBX1	HGNC:33185	MGI:94867	-	-	no	no	no	no	NA
DBX2	HGNC:33186	MGI:107445	-	-	yes	no	no	no	NA
DCAF1	HGNC:30911	MGI:2445220	-	-	no	no	no	no	NA
DCAF10	HGNC:23686	MGI:2140179	-	-	yes	no	no	no	NA
DCAF11	HGNC:20258	MGI:90168	-	-	yes	no	no	no	NA
DCAF12	HGNC:19911	MGI:1916220	-	-	yes	no	no	no	NA
DCAF13	HGNC:24535	MGI:2684929	-	-	no	no	no	no	NA
DCAF15	HGNC:25095	MGI:2684420	-	-	yes	no	no	no	NA
DCAF17	HGNC:25784	MGI:1923013	OMIM:241080|ORPHA:3464	Woodhouse-Sakati Syndrome	no	no	no	no	NA
DCAF5	HGNC:20224	MGI:2444785	-	-	yes	no	no	no	NA
DCAF6	HGNC:30002	MGI:1921356	-	-	yes	no	no	no	NA
DCAF7	HGNC:30915	MGI:1919083	-	-	yes	no	no	no	NA
DCAF8	HGNC:24891	MGI:91860	OMIM:610100|ORPHA:401964	Giant Axonal Neuropathy 2, Autosomal Dominant|Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 With Giant Axons	yes	yes	yes	yes	28.885
DCAF8L2	HGNC:31811	MGI:101758	-	-	no	no	no	no	NA
DCAKD	HGNC:26238	MGI:1915337	-	-	yes	no	no	no	NA
DCBLD1	HGNC:21479	MGI:1913936	-	-	no	no	no	no	NA
DCBLD2	HGNC:24627	MGI:1920629	-	-	yes	no	no	no	NA
DCC	HGNC:2701	MGI:94869	OMIM:114500|OMIM:133239|OMIM:617542|OMIM:157600|ORPHA:2744|ORPHA:478|ORPHA:238722	Colorectal Cancer|Esophageal Cancer|Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development|Mirror Movements 1|Horizontal Gaze Palsy With Progressive Scoliosis|Kallmann Syndrome|Familial Congenital Mirror Movements	yes	yes	yes	no	NA
DCDC2	HGNC:18141	MGI:2652818	OMIM:610212|OMIM:616217|OMIM:617394|ORPHA:480556|ORPHA:90636|ORPHA:84081	Deafness, Autosomal Recessive 66|Nephronophthisis 19|Sclerosing Cholangitis, Neonatal|Isolated Neonatal Sclerosing Cholangitis|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb|Senior-Boichis Syndrome	no	no	no	no	NA
DCDC2B	HGNC:32576	MGI:2686212	-	-	yes	no	no	no	NA
DCDC2C	HGNC:32696	MGI:1915761	-	-	yes	no	no	no	NA
DCHS1	HGNC:13681	MGI:2685011	OMIM:607829|OMIM:601390|ORPHA:314679|ORPHA:741	Mitral Valve Prolapse 2|Van Maldergem Syndrome 1|Cerebrofacioarticular Syndrome|Familial Mitral Valve Prolapse	no	no	no	no	NA
DCHS2	HGNC:23111	MGI:2685263	-	-	no	no	no	no	NA
DCK	HGNC:2704	MGI:102726	-	-	no	no	no	no	NA
DCLK1	HGNC:2700	MGI:1330861	-	-	yes	no	no	no	NA
DCLK2	HGNC:19002	MGI:1918012	-	-	yes	no	no	no	NA
DCLK3	HGNC:19005	MGI:3039580	-	-	yes	no	no	no	NA
DCLRE1A	HGNC:17660	MGI:1930042	-	-	no	no	no	no	NA
DCLRE1B	HGNC:17641	MGI:2156057	OMIM:620133	Dyskeratosis Congenita, Autosomal Recessive 8	no	no	no	no	NA
DCLRE1C	HGNC:17642	MGI:2441769	OMIM:603554|OMIM:602450|ORPHA:275|ORPHA:39041	Omenn Syndrome|Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation|Severe Combined Immunodeficiency Due To Dclre1C Deficiency	no	no	no	no	NA
DCN	HGNC:2705	MGI:94872	OMIM:610048|ORPHA:101068	Corneal Dystrophy, Congenital Stromal|Congenital Stromal Corneal Dystrophy	yes	no	yes	no	NA
DCP1A	HGNC:18714	MGI:1923151	-	-	no	no	no	no	NA
DCP1B	HGNC:24451	MGI:2442404	-	-	no	no	no	no	NA
DCP2	HGNC:24452	MGI:1917890	-	-	yes	no	no	no	NA
DCPS	HGNC:29812	MGI:1916555	OMIM:616459|ORPHA:88616	Al-Raqad Syndrome|Autosomal Recessive Non-Syndromic Intellectual Disability	yes	yes	yes	no	NA
DCST1	HGNC:26539	MGI:1925022	-	-	no	no	no	no	NA
DCST2	HGNC:26562	MGI:2685606	-	-	no	no	no	no	NA
DCSTAMP	HGNC:18549	MGI:1923016	-	-	no	no	no	no	NA
DCT	HGNC:2709	MGI:102563	OMIM:619165|ORPHA:597733	Oculocutaneous Albinism, Type Viii|Oculocutaneous Albinism Type 8	yes	yes	yes	yes	55.425
DCTD	HGNC:2710	MGI:2444529	-	-	yes	no	no	no	NA
DCTN1	HGNC:2711	MGI:107745	OMIM:105400|OMIM:607641|OMIM:168605|ORPHA:803|ORPHA:178509|ORPHA:139589	Amyotrophic Lateral Sclerosis 1|Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14|Perry Syndrome|Amyotrophic Lateral Sclerosis|Distal Hereditary Motor Neuropathy Type 7	yes	yes	yes	no	NA
DCTN2	HGNC:2712	MGI:107733	-	-	yes	no	no	no	NA
DCTN3	HGNC:2713	MGI:1859251	-	-	no	no	no	no	NA
DCTN4	HGNC:15518	MGI:1914915	ORPHA:586	Cystic Fibrosis	yes	yes	yes	yes	16.955
DCTN5	HGNC:24594	MGI:1891689	-	-	yes	no	no	no	NA
DCTN6	HGNC:16964	MGI:1343154	-	-	yes	no	no	no	NA
DCTPP1	HGNC:28777	MGI:1913672	-	-	yes	no	no	no	NA
DCUN1D1	HGNC:18184	MGI:2150386	-	-	no	no	no	no	NA
DCUN1D2	HGNC:20328	MGI:2142792	-	-	no	no	no	no	NA
DCUN1D3	HGNC:28734	MGI:2679003	-	-	yes	no	no	no	NA
DCUN1D4	HGNC:28998	MGI:2140972	-	-	no	no	no	no	NA
DCUN1D5	HGNC:28409	MGI:1924113	-	-	yes	no	no	no	NA
DCX	HGNC:2714	MGI:1277171	OMIM:300067|ORPHA:2148|ORPHA:99796	Lissencephaly, X-Linked, 1|Lissencephaly Type 1 Due To Doublecortin Gene Mutation|Subcortical Band Heterotopia	yes	yes	yes	no	NA
DCXR	HGNC:18985	MGI:1915130	OMIM:260800|ORPHA:2843	Pentosuria	yes	yes	yes	no	NA
DDA1	HGNC:28360	MGI:1913748	-	-	no	no	no	no	NA
DDAH1	HGNC:2715	MGI:1916469	-	-	yes	no	no	no	NA
DDAH2	HGNC:2716	MGI:1859016	-	-	yes	no	no	no	NA
DDB1	HGNC:2717	MGI:1202384	OMIM:619426	White-Kernohan Syndrome	yes	yes	yes	yes	34.905
DDB2	HGNC:2718	MGI:1355314	OMIM:278740|ORPHA:910	Xeroderma Pigmentosum, Complementation Group E|Xeroderma Pigmentosum	no	no	no	no	NA
DDC	HGNC:2719	MGI:94876	OMIM:608643|ORPHA:35708	Aromatic L-Amino Acid Decarboxylase Deficiency	yes	yes	yes	no	NA
DDHD1	HGNC:19714	MGI:2150302	OMIM:609340|ORPHA:101008	Spastic Paraplegia 28, Autosomal Recessive|Autosomal Recessive Spastic Paraplegia Type 28	yes	yes	yes	no	NA
DDHD2	HGNC:29106	MGI:1919358	OMIM:615033|ORPHA:320380	Spastic Paraplegia 54, Autosomal Recessive|Autosomal Recessive Spastic Paraplegia Type 54	no	no	no	no	NA
DDI1	HGNC:18961	MGI:1919079	-	-	no	no	no	no	NA
DDI2	HGNC:24578	MGI:1917244	-	-	yes	no	no	no	NA
DDIAS	HGNC:26351	MGI:1921291	-	-	yes	no	no	no	NA
DDIT3	HGNC:2726	MGI:109247	ORPHA:99967	Myxoid/Round Cell Liposarcoma	yes	yes	yes	no	NA
DDIT4	HGNC:24944	MGI:1921997	-	-	no	no	no	no	NA
DDIT4L	HGNC:30555	MGI:1920534	-	-	no	no	no	no	NA
DDN	HGNC:24458	MGI:108101	-	-	no	no	no	no	NA
DDO	HGNC:2727	MGI:1925528	-	-	no	no	no	no	NA
DDOST	HGNC:2728	MGI:1194508	OMIM:614507|ORPHA:300536	Congenital Disorder Of Glycosylation, Type Ir|Ddost-Cdg	yes	yes	yes	yes	19.99
DDR1	HGNC:2730	MGI:99216	-	-	yes	no	no	no	NA
DDR2	HGNC:2731	MGI:1345277	OMIM:271665|OMIM:618175|ORPHA:93358	Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type|Warburg-Cinotti Syndrome|Spondyloepimetaphyseal Dysplasia-Short Limb-Abnormal Calcification Syndrome	no	no	no	no	NA
DDRGK1	HGNC:16110	MGI:1924256	OMIM:602557|ORPHA:93352	Spondyloepimetaphyseal Dysplasia, Shohat Type	yes	yes	yes	no	NA
DDX1	HGNC:2734	MGI:2144727	-	-	yes	no	no	no	NA
DDX10	HGNC:2735	MGI:1924841	-	-	yes	no	no	no	NA
DDX11	HGNC:2736	MGI:2443590	OMIM:613398|ORPHA:280558	Warsaw Breakage Syndrome	no	no	no	no	NA
DDX17	HGNC:2740	MGI:1914290	-	-	no	no	no	no	NA
DDX18	HGNC:2741	MGI:1914192	-	-	yes	no	no	no	NA
DDX19A	HGNC:25628	MGI:99526	-	-	no	no	no	no	NA
DDX19B	HGNC:2742	MGI:2148251	-	-	yes	no	no	no	NA
DDX20	HGNC:2743	MGI:1858415	-	-	no	no	no	no	NA
DDX21	HGNC:2744	MGI:1860494	-	-	yes	no	no	no	NA
DDX23	HGNC:17347	MGI:1921601	-	-	yes	no	no	no	NA
DDX24	HGNC:13266	MGI:1351337	-	-	yes	no	no	no	NA
DDX25	HGNC:18698	MGI:1353582	-	-	no	no	no	no	NA
DDX27	HGNC:15837	MGI:2385884	-	-	yes	no	no	no	NA
DDX28	HGNC:17330	MGI:1919236	-	-	no	no	no	no	NA
DDX31	HGNC:16715	MGI:2682639	-	-	yes	no	no	no	NA
DDX39A	HGNC:17821	MGI:1915528	-	-	yes	no	no	no	NA
DDX39B	HGNC:13917	MGI:99240	-	-	no	no	no	no	NA
DDX4	HGNC:18700	MGI:102670	-	-	no	no	no	no	NA
DDX41	HGNC:18674	MGI:1920185	OMIM:616871|ORPHA:488647	Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To|Ddx41-Related Hematologic Malignancy Predisposition Syndrome	yes	yes	yes	no	NA
DDX42	HGNC:18676	MGI:1919297	-	-	yes	no	no	no	NA
DDX43	HGNC:18677	MGI:3642857	-	-	yes	no	no	no	NA
DDX46	HGNC:18681	MGI:1920895	-	-	yes	no	no	no	NA
DDX47	HGNC:18682	MGI:1915005	-	-	yes	no	no	no	NA
DDX49	HGNC:18684	MGI:2136689	-	-	no	no	no	no	NA
DDX5	HGNC:2746	MGI:105037	-	-	no	no	no	no	NA
DDX50	HGNC:17906	MGI:2182303	-	-	no	no	no	no	NA
DDX51	HGNC:20082	MGI:1916913	-	-	yes	no	no	no	NA
DDX52	HGNC:20038	MGI:1925644	-	-	yes	no	no	no	NA
DDX54	HGNC:20084	MGI:1919240	-	-	yes	no	no	no	NA
DDX55	HGNC:20085	MGI:1915098	-	-	yes	no	no	no	NA
DDX56	HGNC:18193	MGI:1277172	-	-	yes	no	no	no	NA
DDX59	HGNC:25360	MGI:1915247	OMIM:174300|ORPHA:2919	Orofaciodigital Syndrome V|Orofaciodigital Syndrome Type 5	yes	yes	yes	no	NA
DDX6	HGNC:2747	MGI:104976	OMIM:618653|ORPHA:528084	Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies|Non-Specific Syndromic Intellectual Disability	yes	yes	yes	yes	19.535
DDX60	HGNC:25942	MGI:2384570	-	-	no	no	no	no	NA
DEAF1	HGNC:14677	MGI:1858496	OMIM:617171|OMIM:615828|ORPHA:819|ORPHA:178469|ORPHA:468620	Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures|Vulto-Van Silfhout-De Vries Syndrome|Smith-Magenis Syndrome|Autosomal Dominant Non-Syndromic Intellectual Disability|Intellectual Disability-Epilepsy-Extrapyramidal Syndrome	no	no	no	no	NA
DECR1	HGNC:2753	MGI:1914710	-	-	no	no	no	no	NA
DECR2	HGNC:2754	MGI:1347059	-	-	yes	no	no	no	NA
DEDD	HGNC:2755	MGI:1333874	-	-	no	no	no	no	NA
DEDD2	HGNC:24450	MGI:1914629	-	-	no	no	no	no	NA
DEF6	HGNC:2760	MGI:1346328	OMIM:619573	Immunodeficiency 87 And Autoimmunity	yes	no	yes	no	NA
DEF8	HGNC:25969	MGI:1346331	-	-	no	no	no	no	NA
DEFB1	HGNC:2766	MGI:1096878	-	-	yes	no	no	no	NA
DEFB107A	HGNC:18086	MGI:2179203	-	-	yes	no	no	no	NA
DEFB109B	HGNC:33469	MGI:3646223	-	-	no	no	no	no	NA
DEFB110	HGNC:18091	MGI:1924923	-	-	no	no	no	no	NA
DEFB113	HGNC:18094	MGI:3648148	-	-	no	no	no	no	NA
DEFB115	HGNC:18096	MGI:3650536	-	-	no	no	no	no	NA
DEFB116	HGNC:18097	MGI:1922650	-	-	no	no	no	no	NA
DEFB118	HGNC:16196	MGI:2684967	-	-	no	no	no	no	NA
DEFB119	HGNC:18099	MGI:2385955	-	-	no	no	no	no	NA
DEFB123	HGNC:18103	MGI:2385956	-	-	no	no	no	no	NA
DEFB124	HGNC:18104	MGI:3651158	-	-	no	no	no	no	NA
DEFB125	HGNC:18105	MGI:3643488	-	-	no	no	no	no	NA
DEFB126	HGNC:15900	MGI:3045368	-	-	yes	no	no	no	NA
DEFB128	HGNC:18106	MGI:2442320	-	-	yes	no	no	no	NA
DEFB129	HGNC:16218	MGI:3644405	-	-	no	no	no	no	NA
DEFB135	HGNC:32400	MGI:1920920	-	-	yes	no	no	no	NA
DEFB136	HGNC:34433	MGI:3033850	-	-	no	no	no	no	NA
DEGS1	HGNC:13709	MGI:1097711	OMIM:618404	Leukodystrophy, Hypomyelinating, 18	yes	yes	yes	no	NA
DEGS2	HGNC:20113	MGI:1917309	-	-	no	no	no	no	NA
DEK	HGNC:2768	MGI:1926209	ORPHA:402014	Acute Myeloid Leukemia With T(6;9)(P23;Q34)	no	no	no	no	NA
DELE1	HGNC:28969	MGI:1914089	-	-	yes	no	no	no	NA
DENND10	HGNC:31793	MGI:1915144	-	-	yes	no	no	no	NA
DENND11	HGNC:29472	MGI:2444256	-	-	no	no	no	no	NA
DENND1A	HGNC:29324	MGI:2442794	-	-	yes	no	no	no	NA
DENND1B	HGNC:28404	MGI:2447812	-	-	yes	no	no	no	NA
DENND1C	HGNC:26225	MGI:1918035	-	-	yes	no	no	no	NA
DENND2A	HGNC:22212	MGI:2444961	-	-	no	no	no	no	NA
DENND2B	HGNC:11350	MGI:108517	-	-	yes	no	no	no	NA
DENND2C	HGNC:24748	MGI:3036254	-	-	yes	no	no	no	NA
DENND2D	HGNC:26192	MGI:2181193	-	-	yes	no	no	no	NA
DENND3	HGNC:29134	MGI:2146009	-	-	no	no	no	no	NA
DENND4A	HGNC:24321	MGI:2142979	-	-	no	no	no	no	NA
DENND4B	HGNC:29044	MGI:2446201	-	-	no	no	no	no	NA
DENND4C	HGNC:26079	MGI:1914769	-	-	yes	no	no	no	NA
DENND5A	HGNC:19344	MGI:1201681	OMIM:617281	Developmental And Epileptic Encephalopathy 49	no	no	no	no	NA
DENND5B	HGNC:28338	MGI:2444273	-	-	yes	no	no	no	NA
DENND6A	HGNC:26635	MGI:2442980	-	-	yes	no	no	no	NA
DENND6B	HGNC:32690	MGI:1916690	-	-	yes	no	no	no	NA
DENR	HGNC:2769	MGI:1915434	-	-	yes	no	no	no	NA
DEPDC1	HGNC:22949	MGI:1923381	-	-	yes	no	no	no	NA
DEPDC1B	HGNC:24902	MGI:2145425	-	-	no	no	no	no	NA
DEPDC5	HGNC:18423	MGI:2141101	OMIM:620504|OMIM:604364|ORPHA:98820|ORPHA:98784|ORPHA:101046	Developmental And Epileptic Encephalopathy 111|Epilepsy, Familial Focal, With Variable Foci 1|Familial Focal Epilepsy With Variable Foci|Autosomal Dominant Nocturnal Frontal Lobe Epilepsy|Autosomal Dominant Epilepsy With Auditory Features	yes	yes	yes	no	NA
DEPDC7	HGNC:29899	MGI:2139258	-	-	yes	no	no	no	NA
DEPP1	HGNC:23355	MGI:1918730	-	-	no	no	no	no	NA
DEPTOR	HGNC:22953	MGI:2146322	-	-	yes	no	no	no	NA
DERA	HGNC:24269	MGI:1913762	-	-	yes	no	no	no	NA
DERL1	HGNC:28454	MGI:1915069	-	-	no	no	no	no	NA
DERL2	HGNC:17943	MGI:2151483	-	-	yes	no	no	no	NA
DERL3	HGNC:14236	MGI:1917627	-	-	no	no	no	no	NA
DERPC	HGNC:54084	MGI:6303050	-	-	no	no	no	no	NA
DES	HGNC:2770	MGI:94885	OMIM:604765|OMIM:601419|OMIM:181400|ORPHA:154|ORPHA:85146|ORPHA:98909	Cardiomyopathy, Dilated, 1I|Myopathy, Myofibrillar, 1|Scapuloperoneal Syndrome, Neurogenic, Kaeser Type|Familial Isolated Dilated Cardiomyopathy|Neurogenic Scapuloperoneal Syndrome, Kaeser Type|Desminopathy	no	no	no	no	NA
DESI1	HGNC:24577	MGI:106313	-	-	no	no	no	no	NA
DESI2	HGNC:24264	MGI:1926075	-	-	no	no	no	no	NA
DET1	HGNC:25477	MGI:1923625	-	-	no	no	no	no	NA
DEUP1	HGNC:26344	MGI:2443026	-	-	yes	no	no	no	NA
DEXI	HGNC:13267	MGI:1926236	-	-	no	no	no	no	NA
DFFA	HGNC:2772	MGI:1196227	-	-	no	no	no	no	NA
DFFB	HGNC:2773	MGI:1196287	-	-	yes	no	no	no	NA
DGAT1	HGNC:2843	MGI:1333825	OMIM:615863|ORPHA:329242	Diarrhea 7, Protein-Losing Enteropathy Type|Congenital Chronic Diarrhea With Protein-Losing Enteropathy	no	no	no	no	NA
DGAT2	HGNC:16940	MGI:1915050	ORPHA:487814	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Dgat2 Mutation	no	no	no	no	NA
DGAT2L6	HGNC:23250	MGI:3045268	-	-	yes	no	no	no	NA
DGCR2	HGNC:2845	MGI:892866	-	-	yes	no	no	no	NA
DGCR8	HGNC:2847	MGI:2151114	-	-	no	no	no	no	NA
DGKA	HGNC:2849	MGI:102952	-	-	no	no	no	no	NA
DGKB	HGNC:2850	MGI:2442474	-	-	yes	no	no	no	NA
DGKD	HGNC:2851	MGI:2138334	-	-	yes	no	no	no	NA
DGKE	HGNC:2852	MGI:1889276	OMIM:615008|ORPHA:329903|ORPHA:357008	Nephrotic Syndrome, Type 7|Immunoglobulin-Mediated Membranoproliferative Glomerulonephritis|Hemolytic Uremic Syndrome With Dgke Deficiency	yes	yes	yes	yes	25.29
DGKG	HGNC:2853	MGI:105060	-	-	no	no	no	no	NA
DGKH	HGNC:2854	MGI:2444188	-	-	yes	no	no	no	NA
DGKI	HGNC:2855	MGI:2443430	-	-	yes	no	no	no	NA
DGKK	HGNC:32395	MGI:3580254	-	-	yes	no	no	no	NA
DGKQ	HGNC:2856	MGI:102918	-	-	yes	no	no	no	NA
DGKZ	HGNC:2857	MGI:1278339	-	-	no	no	no	no	NA
DGLUCY	HGNC:20498	MGI:2444813	-	-	no	no	no	no	NA
DGUOK	HGNC:2858	MGI:1351602	OMIM:251880|OMIM:617068|OMIM:617070|ORPHA:279934|ORPHA:329314	Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)|Portal Hypertension, Noncirrhotic, 1|Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4|Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due To Dguok Deficiency|Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	yes	yes	yes	yes	40.585
DHCR24	HGNC:2859	MGI:1922004	OMIM:602398|ORPHA:35107	Desmosterolosis	yes	yes	yes	yes	16.845
DHCR7	HGNC:2860	MGI:1298378	OMIM:270400|ORPHA:818	Smith-Lemli-Opitz Syndrome	yes	yes	yes	yes	39.075
DHDDS	HGNC:20603	MGI:1914672	OMIM:613861|OMIM:617836|ORPHA:791|ORPHA:442835	Retinitis Pigmentosa 59|Developmental Delay And Seizures With Or Without Movement Abnormalities|Retinitis Pigmentosa|Non-Specific Early-Onset Epileptic Encephalopathy	yes	yes	yes	yes	54.31
DHDH	HGNC:17887	MGI:1919005	-	-	yes	no	no	no	NA
DHH	HGNC:2865	MGI:94891	OMIM:607080|OMIM:233420|ORPHA:168563|ORPHA:242	46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy|46,Xy Sex Reversal 7|46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome|46,Xy Complete Gonadal Dysgenesis	no	no	no	no	NA
DHODH	HGNC:2867	MGI:1928378	OMIM:263750|ORPHA:246	Postaxial Acrofacial Dysostosis	yes	yes	yes	no	NA
DHPS	HGNC:2869	MGI:2683592	OMIM:618480	Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	yes	yes	yes	no	NA
DHRS1	HGNC:16445	MGI:1196314	-	-	no	no	no	no	NA
DHRS11	HGNC:28639	MGI:2652816	-	-	yes	no	no	no	NA
DHRS13	HGNC:28326	MGI:1917701	-	-	no	no	no	no	NA
DHRS2	HGNC:18349	MGI:1918662	-	-	yes	no	no	no	NA
DHRS3	HGNC:17693	MGI:1315215	-	-	no	no	no	no	NA
DHRS7	HGNC:21524	MGI:1913625	-	-	no	no	no	no	NA
DHRS7B	HGNC:24547	MGI:2384931	-	-	yes	no	no	no	NA
DHRS7C	HGNC:32423	MGI:1915710	-	-	yes	no	no	no	NA
DHRS9	HGNC:16888	MGI:2442798	-	-	no	no	no	no	NA
DHTKD1	HGNC:23537	MGI:2445096	OMIM:615025|OMIM:204750|ORPHA:329258|ORPHA:79154	Charcot-Marie-Tooth Disease, Axonal, Type 2Q|Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria|Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Q|2-Aminoadipic 2-Oxoadipic Aciduria	yes	no	yes	no	NA
DHX15	HGNC:2738	MGI:1099786	-	-	yes	no	no	no	NA
DHX16	HGNC:2739	MGI:1916442	OMIM:618733	Neuromuscular Oculoauditory Syndrome	yes	yes	yes	yes	26.205
DHX29	HGNC:15815	MGI:2145374	-	-	yes	no	no	no	NA
DHX30	HGNC:16716	MGI:1920081	OMIM:617804|ORPHA:647788	Neurodevelopmental Disorder With Variable Motor And Language Impairment|Neurodevelopmental Delay-Intellectual Disability-Ataxia-Feeding Difficulty Syndrome	yes	yes	yes	yes	26.785
DHX32	HGNC:16717	MGI:2141813	-	-	no	no	no	no	NA
DHX33	HGNC:16718	MGI:2445102	-	-	yes	no	no	no	NA
DHX34	HGNC:16719	MGI:1918973	-	-	yes	no	no	no	NA
DHX35	HGNC:15861	MGI:1918965	-	-	yes	no	no	no	NA
DHX36	HGNC:14410	MGI:1919412	-	-	no	no	no	no	NA
DHX37	HGNC:17210	MGI:3028576	OMIM:273250|OMIM:618731|ORPHA:242|ORPHA:983|ORPHA:251510	46,Xy Sex Reversal 11|Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies|46,Xy Complete Gonadal Dysgenesis|Testicular Regression Syndrome|46,Xy Partial Gonadal Dysgenesis	yes	yes	yes	no	NA
DHX38	HGNC:17211	MGI:1927617	OMIM:618220|ORPHA:791	Retinitis Pigmentosa 84|Retinitis Pigmentosa	yes	yes	yes	yes	17.25
DHX40	HGNC:18018	MGI:1914737	-	-	yes	no	no	no	NA
DHX57	HGNC:20086	MGI:2147067	-	-	no	no	no	no	NA
DHX58	HGNC:29517	MGI:1931560	-	-	yes	no	no	no	NA
DHX8	HGNC:2749	MGI:1306823	-	-	yes	no	no	no	NA
DHX9	HGNC:2750	MGI:108177	-	-	no	no	no	no	NA
DIABLO	HGNC:21528	MGI:1913843	OMIM:614152|ORPHA:90635	Deafness, Autosomal Dominant 64|Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	no	no	no	no	NA
DIAPH1	HGNC:2876	MGI:1194490	OMIM:124900|OMIM:616632|ORPHA:2573|ORPHA:494444|ORPHA:477814	Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia|Seizures, Cortical Blindness, And Microcephaly Syndrome|Moyamoya Disease|Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome|Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	yes	yes	yes	no	NA
DIAPH2	HGNC:2877	MGI:1858500	OMIM:300511|ORPHA:619	Premature Ovarian Failure 2A|Non Rare In Europe: Primary Ovarian Failure	yes	yes	yes	no	NA
DIAPH3	HGNC:15480	MGI:1927222	OMIM:609129|ORPHA:90635	Auditory Neuropathy, Autosomal Dominant 1|Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	yes	yes	yes	no	NA
DICER1	HGNC:17098	MGI:2177178	OMIM:618272|OMIM:138800|OMIM:601200|OMIM:180295|ORPHA:276399|ORPHA:284343|ORPHA:404476|ORPHA:99757|ORPHA:99916|ORPHA:99915|ORPHA:99914	Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor|Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors|Pleuropulmonary Blastoma|Rhabdomyosarcoma, Embryonal, 2|Familial Multinodular Goiter|Dicer1 Tumor-Predisposition Syndrome|Global Developmental Delay-Lung Cysts-Overgrowth-Wilms Tumor Syndrome|Embryonal Rhabdomyosarcoma|Malignant Sertoli-Leydig Cell Tumor Of The Ovary|Maligant Granulosa Cell Tumor Of The Ovary|Gynandroblastoma	yes	yes	yes	yes	17.27
DIDO1	HGNC:2680	MGI:1344352	-	-	no	no	no	no	NA
DIMT1	HGNC:30217	MGI:1913504	-	-	no	no	no	no	NA
DIO1	HGNC:2883	MGI:94896	OMIM:619855	Thyroid Hormone Metabolism, Abnormal, 2	yes	yes	yes	no	NA
DIO2	HGNC:2884	MGI:1338833	-	-	yes	no	no	no	NA
DIO3	HGNC:2885	MGI:1306782	-	-	no	no	no	no	NA
DIP2A	HGNC:17217	MGI:2385920	-	-	yes	no	no	no	NA
DIP2B	HGNC:29284	MGI:2145977	OMIM:136630	Intellectual Developmental Disorder, Fra12A Type	yes	yes	yes	no	NA
DIP2C	HGNC:29150	MGI:1920179	-	-	yes	no	no	no	NA
DIPK1A	HGNC:32213	MGI:1914516	-	-	yes	no	no	no	NA
DIPK1B	HGNC:28290	MGI:1927576	-	-	no	no	no	no	NA
DIPK1C	HGNC:31729	MGI:3041188	-	-	yes	no	no	no	NA
DIPK2A	HGNC:28490	MGI:1916111	-	-	no	no	no	no	NA
DIPK2B	HGNC:25866	MGI:1923155	-	-	yes	no	no	no	NA
DIRAS1	HGNC:19127	MGI:2183442	-	-	no	no	no	no	NA
DIRAS2	HGNC:19323	MGI:1915453	-	-	no	no	no	no	NA
DIS3	HGNC:20604	MGI:1919912	-	-	yes	no	no	no	NA
DIS3L	HGNC:28698	MGI:2143272	-	-	no	no	no	no	NA
DIS3L2	HGNC:28648	MGI:2442555	OMIM:267000|ORPHA:654|ORPHA:2849	Perlman Syndrome|Nephroblastoma	yes	yes	yes	yes	30.185
DISC1	HGNC:2888	MGI:2447658	OMIM:604906|ORPHA:171703	Schizophrenia 9|Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	yes	yes	yes	no	NA
DISP1	HGNC:19711	MGI:1916147	ORPHA:280200|ORPHA:280195|ORPHA:220386|ORPHA:93926|ORPHA:93924|ORPHA:93925	Microform Holoprosencephaly|Septopreoptic Holoprosencephaly|Semilobar Holoprosencephaly|Midline Interhemispheric Variant Of Holoprosencephaly|Lobar Holoprosencephaly|Alobar Holoprosencephaly	no	no	no	no	NA
DISP2	HGNC:19712	MGI:2388733	-	-	no	no	no	no	NA
DISP3	HGNC:29251	MGI:2444403	-	-	yes	no	no	no	NA
DIXDC1	HGNC:23695	MGI:2679721	-	-	yes	no	no	no	NA
DKC1	HGNC:2890	MGI:1861727	OMIM:301108|OMIM:305000|ORPHA:1775|ORPHA:3322	Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1|Dyskeratosis Congenita, X-Linked|Dyskeratosis Congenita|Hoyeraal-Hreidarsson Syndrome	no	no	no	no	NA
DKK1	HGNC:2891	MGI:1329040	ORPHA:268882|ORPHA:85193	Arnold-Chiari Malformation Type I|Idiopathic Juvenile Osteoporosis	no	no	no	no	NA
DKK2	HGNC:2892	MGI:1890663	-	-	yes	no	no	no	NA
DKK3	HGNC:2893	MGI:1354952	-	-	yes	no	no	no	NA
DKK4	HGNC:2894	MGI:2385299	-	-	yes	no	no	no	NA
DKKL1	HGNC:16528	MGI:1354963	-	-	yes	no	no	no	NA
DLAT	HGNC:2896	MGI:2385311	OMIM:245348|ORPHA:79244	Pyruvate Dehydrogenase E2 Deficiency	yes	yes	yes	yes	26.755
DLC1	HGNC:2897	MGI:1354949	OMIM:114500	Colorectal Cancer	no	no	no	no	NA
DLD	HGNC:2898	MGI:107450	OMIM:246900|ORPHA:2394	Dihydrolipoamide Dehydrogenase Deficiency|Pyruvate Dehydrogenase E3 Deficiency	no	no	no	no	NA
DLEC1	HGNC:2899	MGI:2443671	ORPHA:99977	Squamous Cell Carcinoma Of The Esophagus	yes	yes	yes	no	NA
DLEU7	HGNC:17567	MGI:2447771	-	-	yes	no	no	no	NA
DLG1	HGNC:2900	MGI:107231	ORPHA:199306	Cleft Lip/Palate	no	no	no	no	NA
DLG2	HGNC:2901	MGI:1344351	-	-	yes	no	no	no	NA
DLG3	HGNC:2902	MGI:1888986	OMIM:300850|ORPHA:777	Intellectual Developmental Disorder, X-Linked 90|X-Linked Non-Syndromic Intellectual Disability	yes	yes	yes	no	NA
DLG4	HGNC:2903	MGI:1277959	OMIM:618793|ORPHA:528084	Intellectual Developmental Disorder, Autosomal Dominant 62|Non-Specific Syndromic Intellectual Disability	yes	yes	yes	no	NA
DLG5	HGNC:2904	MGI:1918478	-	-	yes	no	no	no	NA
DLGAP1	HGNC:2905	MGI:1346065	-	-	yes	no	no	no	NA
DLGAP2	HGNC:2906	MGI:2443181	-	-	yes	no	no	no	NA
DLGAP3	HGNC:30368	MGI:3039563	-	-	no	no	no	no	NA
DLGAP4	HGNC:24476	MGI:2138865	-	-	yes	no	no	no	NA
DLGAP5	HGNC:16864	MGI:2183453	-	-	no	no	no	no	NA
DLK1	HGNC:2907	MGI:94900	ORPHA:254525|ORPHA:254528|ORPHA:254534|ORPHA:254531|ORPHA:96184|ORPHA:96334|ORPHA:650097|ORPHA:650077	Temple Syndrome Due To Paternal 14Q32.2 Microdeletion|Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion|Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation|Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation|Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14|Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14|Genetic Central Precocious Puberty In Male|Genetic Central Precocious Puberty In Female	yes	yes	yes	yes	30.635
DLK2	HGNC:21113	MGI:2146838	-	-	no	no	no	no	NA
DLL1	HGNC:2908	MGI:104659	OMIM:618709|ORPHA:178469|ORPHA:280200|ORPHA:280195|ORPHA:220386|ORPHA:93926|ORPHA:93924|ORPHA:93925	Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures|Autosomal Dominant Non-Syndromic Intellectual Disability|Microform Holoprosencephaly|Septopreoptic Holoprosencephaly|Semilobar Holoprosencephaly|Midline Interhemispheric Variant Of Holoprosencephaly|Lobar Holoprosencephaly|Alobar Holoprosencephaly	yes	yes	yes	yes	48.265
DLL3	HGNC:2909	MGI:1096877	OMIM:277300|ORPHA:2311	Spondylocostal Dysostosis 1, Autosomal Recessive|Autosomal Recessive Spondylocostal Dysostosis	no	no	no	no	NA
DLL4	HGNC:2910	MGI:1859388	OMIM:616589|ORPHA:974|ORPHA:1114	Adams-Oliver Syndrome 6|Adams-Oliver Syndrome|Aplasia Cutis Congenita	no	no	no	no	NA
DLST	HGNC:2911	MGI:1926170	OMIM:618475|ORPHA:29072	Pheochromocytoma/Paraganglioma Syndrome 7|Hereditary Pheochromocytoma-Paraganglioma	yes	yes	yes	no	NA
DLX1	HGNC:2914	MGI:94901	-	-	no	no	no	no	NA
DLX2	HGNC:2915	MGI:94902	-	-	no	no	no	no	NA
DLX3	HGNC:2916	MGI:94903	OMIM:104510|OMIM:190320|ORPHA:3352|ORPHA:100034	Amelogenesis Imperfecta, Type Iv|Trichodentoosseous Syndrome|Tricho-Dento-Osseous Syndrome|Hypomaturation-Hypoplastic Amelogenesis Imperfecta With Taurodontism	yes	yes	yes	no	NA
DLX4	HGNC:2917	MGI:94904	OMIM:616788|ORPHA:199306	Orofacial Cleft 15|Cleft Lip/Palate	yes	no	yes	no	NA
DLX5	HGNC:2918	MGI:101926	OMIM:220600|OMIM:183600|ORPHA:2440|ORPHA:71271	Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive|Split-Hand/Foot Malformation 1|Isolated Split Hand-Split Foot Malformation|Split Hand-Split Foot-Deafness Syndrome	no	no	no	no	NA
DLX6	HGNC:2919	MGI:101927	ORPHA:2440	Isolated Split Hand-Split Foot Malformation	no	no	no	no	NA
DMAC1	HGNC:30536	MGI:1914178	-	-	no	no	no	no	NA
DMAC2	HGNC:25496	MGI:1913599	-	-	no	no	no	no	NA
DMAC2L	HGNC:18799	MGI:1915305	-	-	yes	no	no	no	NA
DMAP1	HGNC:18291	MGI:1913483	-	-	yes	no	no	no	NA
DMBT1	HGNC:2926	MGI:106210	-	-	yes	no	no	no	NA
DMBX1	HGNC:19026	MGI:2153518	-	-	no	no	no	no	NA
DMC1	HGNC:2927	MGI:105393	ORPHA:619	Non Rare In Europe: Primary Ovarian Failure	no	no	no	no	NA
DMD	HGNC:2928	MGI:94909	OMIM:300376|OMIM:302045|OMIM:310200|ORPHA:154|ORPHA:206546|ORPHA:777|ORPHA:98895|ORPHA:98896	Muscular Dystrophy, Becker Type|Cardiomyopathy, Dilated, 3B|Muscular Dystrophy, Duchenne Type|Familial Isolated Dilated Cardiomyopathy|Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers|X-Linked Non-Syndromic Intellectual Disability|Becker Muscular Dystrophy|Duchenne Muscular Dystrophy	yes	yes	yes	yes	57.59
DMGDH	HGNC:24475	MGI:1921379	OMIM:605850|ORPHA:243343	Dimethylglycine Dehydrogenase Deficiency	yes	yes	yes	no	NA
DMKN	HGNC:25063	MGI:1920962	-	-	no	no	no	no	NA
DMP1	HGNC:2932	MGI:94910	OMIM:241520|ORPHA:289176	Hypophosphatemic Rickets, Autosomal Recessive, 1|Autosomal Recessive Hypophosphatemic Rickets	yes	yes	yes	yes	63.225
DMPK	HGNC:2933	MGI:94906	OMIM:160900|ORPHA:589821|ORPHA:589827|ORPHA:589824|ORPHA:589833|ORPHA:589830	Myotonic Dystrophy 1|Congenital-Onset Steinert Myotonic Dystrophy|Juvenile-Onset Steinert Myotonic Dystrophy|Childhood-Onset Steinert Myotonic Dystrophy|Late-Onset Steinert Myotonic Dystrophy|Adult-Onset Steinert Myotonic Dystrophy	no	no	no	no	NA
DMRT1	HGNC:2934	MGI:1354733	ORPHA:242	46,Xy Complete Gonadal Dysgenesis	no	no	no	no	NA
DMRT2	HGNC:2935	MGI:1330307	-	-	no	no	no	no	NA
DMRT3	HGNC:13909	MGI:2449470	ORPHA:251510	46,Xy Partial Gonadal Dysgenesis	no	no	no	no	NA
DMRTA1	HGNC:13826	MGI:2653627	-	-	no	no	no	no	NA
DMRTA2	HGNC:13908	MGI:2653629	-	-	no	no	no	no	NA
DMRTB1	HGNC:13913	MGI:1927125	-	-	no	no	no	no	NA
DMRTC1	HGNC:13910	MGI:1918137	-	-	yes	no	no	no	NA
DMRTC2	HGNC:13911	MGI:1918491	-	-	no	no	no	no	NA
DMTF1	HGNC:14603	MGI:1344415	-	-	no	no	no	no	NA
DMTN	HGNC:3382	MGI:99670	-	-	no	no	no	no	NA
DMWD	HGNC:2936	MGI:94907	-	-	yes	no	no	no	NA
DMXL1	HGNC:2937	MGI:2443926	-	-	yes	no	no	no	NA
DMXL2	HGNC:2938	MGI:2444630	OMIM:617605|OMIM:616113|OMIM:618663|ORPHA:1934|ORPHA:453533|ORPHA:90635	Deafness, Autosomal Dominant 71|Polyendocrine-Polyneuropathy Syndrome|Developmental And Epileptic Encephalopathy 81|Early Infantile Epileptic Encephalopathy|Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	yes	yes	yes	yes	15.92
DNA2	HGNC:2939	MGI:2443732	OMIM:615807|OMIM:615156|ORPHA:808|ORPHA:352470	Seckel Syndrome 8|Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6|Seckel Syndrome|Dna2-Related Mitochondrial Dna Deletion Syndrome	no	no	no	no	NA
DNAAF1	HGNC:30539	MGI:1915520	OMIM:613193|ORPHA:244	Ciliary Dyskinesia, Primary, 13|Primary Ciliary Dyskinesia	yes	yes	yes	no	NA
DNAAF10	HGNC:25176	MGI:2144224	-	-	no	no	no	no	NA
DNAAF11	HGNC:16725	MGI:1859553	OMIM:614935|ORPHA:244	Ciliary Dyskinesia, Primary, 19|Primary Ciliary Dyskinesia	no	no	no	no	NA
DNAAF2	HGNC:20188	MGI:1923566	OMIM:612518|ORPHA:244	Ciliary Dyskinesia, Primary, 10|Primary Ciliary Dyskinesia	yes	yes	yes	no	NA
DNAAF3	HGNC:30492	MGI:3588207	OMIM:606763|ORPHA:244	Ciliary Dyskinesia, Primary, 2|Primary Ciliary Dyskinesia	yes	yes	yes	no	NA
DNAAF4	HGNC:21493	MGI:1914935	OMIM:615482|OMIM:127700|ORPHA:244	Ciliary Dyskinesia, Primary, 25|Dyslexia, Susceptibility To, 1|Primary Ciliary Dyskinesia	yes	yes	yes	yes	19.16
DNAAF5	HGNC:26013	MGI:3616079	OMIM:614874|ORPHA:244	Ciliary Dyskinesia, Primary, 18|Primary Ciliary Dyskinesia	no	no	no	no	NA
DNAAF9	HGNC:17721	MGI:1923029	-	-	yes	no	no	no	NA
DNAH1	HGNC:2940	MGI:107721	OMIM:617577|OMIM:617576|ORPHA:244|ORPHA:276234	Ciliary Dyskinesia, Primary, 37|Spermatogenic Failure 18|Primary Ciliary Dyskinesia|Non-Syndromic Male Infertility Due To Sperm Motility Disorder	yes	yes	yes	no	NA
DNAH10	HGNC:2941	MGI:1860299	OMIM:619515|ORPHA:137893|ORPHA:399805	Spermatogenic Failure 56|Male Infertility Due To Large-Headed Multiflagellar Polyploid Spermatozoa|Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	yes	yes	yes	yes	73.1
DNAH11	HGNC:2942	MGI:1100864	OMIM:611884|ORPHA:244	Ciliary Dyskinesia, Primary, 7|Primary Ciliary Dyskinesia	no	no	no	no	NA
DNAH12	HGNC:2943	MGI:107720	-	-	no	no	no	no	NA
DNAH14	HGNC:2945	MGI:2444525	-	-	no	no	no	no	NA
DNAH17	HGNC:2946	MGI:1917176	OMIM:618643|ORPHA:276234	Spermatogenic Failure 39|Non-Syndromic Male Infertility Due To Sperm Motility Disorder	yes	yes	yes	yes	69.525
DNAH2	HGNC:2948	MGI:107731	OMIM:619094	Spermatogenic Failure 45	yes	yes	yes	yes	59.355
DNAH3	HGNC:2949	MGI:2683040	-	-	no	no	no	no	NA
DNAH5	HGNC:2950	MGI:107718	OMIM:608644|ORPHA:244	Ciliary Dyskinesia, Primary, 3|Primary Ciliary Dyskinesia	yes	yes	yes	no	NA
DNAH6	HGNC:2951	MGI:107744	-	-	yes	no	no	no	NA
DNAH8	HGNC:2952	MGI:107714	OMIM:619095	Spermatogenic Failure 46	no	no	no	no	NA
DNAH9	HGNC:2953	MGI:1289279	OMIM:618300|ORPHA:244|ORPHA:157769|ORPHA:101063	Ciliary Dyskinesia, Primary, 40|Primary Ciliary Dyskinesia|Situs Ambiguus|Situs Inversus Totalis	yes	no	yes	no	NA
DNAI1	HGNC:2954	MGI:1916172	OMIM:244400|ORPHA:244	Ciliary Dyskinesia, Primary, 1|Primary Ciliary Dyskinesia	no	no	no	no	NA
DNAI2	HGNC:18744	MGI:2685574	OMIM:612444|ORPHA:244	Ciliary Dyskinesia, Primary, 9|Primary Ciliary Dyskinesia	yes	yes	yes	no	NA
DNAI3	HGNC:30711	MGI:3045269	-	-	no	no	no	no	NA
DNAI4	HGNC:26252	MGI:2385328	-	-	yes	no	no	no	NA
DNAI7	HGNC:29599	MGI:2444480	-	-	no	no	no	no	NA
DNAJA1	HGNC:5229	MGI:1270129	-	-	yes	no	no	no	NA
DNAJA2	HGNC:14884	MGI:1931882	-	-	yes	no	no	no	NA
DNAJA3	HGNC:11808	MGI:1933786	-	-	no	no	no	no	NA
DNAJA4	HGNC:14885	MGI:1927638	-	-	yes	no	no	no	NA
DNAJB1	HGNC:5270	MGI:1931874	ORPHA:401920	Fibrolamellar Hepatocellular Carcinoma	no	no	no	no	NA
DNAJB11	HGNC:14889	MGI:1915088	OMIM:618061|ORPHA:730	Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease|Autosomal Dominant Polycystic Kidney Disease	yes	yes	yes	yes	41.68
DNAJB12	HGNC:14891	MGI:1931881	-	-	yes	no	no	no	NA
DNAJB13	HGNC:30718	MGI:1916637	OMIM:617091|ORPHA:244	Ciliary Dyskinesia, Primary, 34|Primary Ciliary Dyskinesia	no	no	no	no	NA
DNAJB14	HGNC:25881	MGI:1917854	-	-	yes	no	no	no	NA
DNAJB2	HGNC:5228	MGI:1928739	OMIM:614881|ORPHA:314485|ORPHA:443950	Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 5|Young Adult-Onset Distal Hereditary Motor Neuropathy|Dnajb2-Related Charcot-Marie-Tooth Disease Type 2	yes	yes	yes	no	NA
DNAJB4	HGNC:14886	MGI:1914285	OMIM:620326	Congenital Myopathy 21 With Early Respiratory Failure	yes	no	yes	no	NA
DNAJB5	HGNC:14887	MGI:1930018	-	-	yes	no	no	no	NA
DNAJB6	HGNC:14888	MGI:1344381	OMIM:603511|ORPHA:34516	Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1|Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	no	no	no	no	NA
DNAJB7	HGNC:24986	MGI:1914012	-	-	yes	no	no	no	NA
DNAJB8	HGNC:23699	MGI:1922801	-	-	no	no	no	no	NA
DNAJB9	HGNC:6968	MGI:1351618	-	-	no	no	no	no	NA
DNAJC1	HGNC:20090	MGI:103268	-	-	no	no	no	no	NA
DNAJC10	HGNC:24637	MGI:1914111	-	-	yes	no	no	no	NA
DNAJC11	HGNC:25570	MGI:2443386	-	-	no	no	no	no	NA
DNAJC12	HGNC:28908	MGI:1353428	OMIM:617384|ORPHA:508523	Hyperphenylalaninemia, Mild, Non-Bh4-Deficient|Hyperphenylalaninemia Due To Dnajc12 Deficiency	yes	yes	yes	yes	26.28
DNAJC13	HGNC:30343	MGI:2676368	ORPHA:411602	Hereditary Late-Onset Parkinson Disease	yes	yes	yes	yes	14.98
DNAJC14	HGNC:24581	MGI:1921580	-	-	yes	no	no	no	NA
DNAJC15	HGNC:20325	MGI:1913398	-	-	yes	no	no	no	NA
DNAJC16	HGNC:29157	MGI:2442146	-	-	yes	no	no	no	NA
DNAJC17	HGNC:25556	MGI:1916658	-	-	yes	no	no	no	NA
DNAJC18	HGNC:28429	MGI:1923844	-	-	yes	no	no	no	NA
DNAJC19	HGNC:30528	MGI:1914963	OMIM:610198|ORPHA:66634	3-Methylglutaconic Aciduria, Type V|Dilated Cardiomyopathy With Ataxia	yes	yes	yes	yes	35.82
DNAJC2	HGNC:13192	MGI:99470	-	-	yes	no	no	no	NA
DNAJC21	HGNC:27030	MGI:1925371	OMIM:617052|ORPHA:811	Bone Marrow Failure Syndrome 3|Shwachman-Diamond Syndrome	yes	yes	yes	yes	24.015
DNAJC22	HGNC:25802	MGI:1920028	-	-	no	no	no	no	NA
DNAJC24	HGNC:26979	MGI:1919522	-	-	no	no	no	no	NA
DNAJC25	HGNC:34187	MGI:1919679	-	-	no	no	no	no	NA
DNAJC27	HGNC:30290	MGI:2443036	-	-	yes	no	no	no	NA
DNAJC28	HGNC:1297	MGI:2181053	-	-	yes	no	no	no	NA
DNAJC3	HGNC:9439	MGI:107373	OMIM:616192|ORPHA:445062	Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus|Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome	no	no	no	no	NA
DNAJC30	HGNC:16410	MGI:1913364	OMIM:619382|ORPHA:904|ORPHA:104	Leber Hereditary Optic Neuropathy, Autosomal Recessive 1|Williams Syndrome|Leber Hereditary Optic Neuropathy	yes	yes	yes	yes	44.795
DNAJC4	HGNC:5271	MGI:1927346	-	-	no	no	no	no	NA
DNAJC5	HGNC:16235	MGI:892995	OMIM:162350|ORPHA:228343	Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)|Cln4B Disease	no	no	no	no	NA
DNAJC5B	HGNC:24138	MGI:1913576	-	-	yes	no	no	no	NA
DNAJC5G	HGNC:24844	MGI:3045263	-	-	yes	no	no	no	NA
DNAJC6	HGNC:15469	MGI:1919935	OMIM:615528|ORPHA:2828|ORPHA:391411	Parkinson Disease 19A, Juvenile-Onset|Young-Onset Parkinson Disease|Atypical Juvenile Parkinsonism	yes	no	yes	no	NA
DNAJC7	HGNC:12392	MGI:1928373	-	-	yes	no	no	no	NA
DNAJC8	HGNC:15470	MGI:1915848	-	-	yes	no	no	no	NA
DNAJC9	HGNC:19123	MGI:1915326	-	-	yes	no	no	no	NA
DNAL1	HGNC:23247	MGI:1921462	OMIM:614017|ORPHA:244	Ciliary Dyskinesia, Primary, 16|Primary Ciliary Dyskinesia	yes	yes	yes	yes	39.425
DNAL4	HGNC:2955	MGI:1859217	OMIM:616059|ORPHA:238722	Mirror Movements 3|Familial Congenital Mirror Movements	yes	yes	yes	yes	36.515
DNALI1	HGNC:14353	MGI:1922813	OMIM:620354	Spermatogenic Failure 83	no	no	no	no	NA
DNASE1	HGNC:2956	MGI:103157	OMIM:152700|ORPHA:536|ORPHA:300345	Systemic Lupus Erythematosus|Autosomal Systemic Lupus Erythematosus	yes	yes	yes	yes	24.535
DNASE1L1	HGNC:2957	MGI:109628	-	-	yes	no	no	no	NA
DNASE1L2	HGNC:2958	MGI:1913955	-	-	yes	no	no	no	NA
DNASE1L3	HGNC:2959	MGI:1314633	OMIM:614420|ORPHA:300345|ORPHA:36412	Systemic Lupus Erythematosus 16|Autosomal Systemic Lupus Erythematosus|Hypocomplementemic Urticarial Vasculitis	yes	yes	yes	yes	44.35
DNASE2	HGNC:2960	MGI:1329019	OMIM:619858	Autoinflammatory-Pancytopenia Syndrome	no	no	no	no	NA
DNASE2B	HGNC:28875	MGI:1913283	-	-	yes	no	no	no	NA
DND1	HGNC:23799	MGI:2447763	-	-	yes	no	no	no	NA
DNER	HGNC:24456	MGI:2152889	-	-	yes	no	no	no	NA
DNHD1	HGNC:26532	MGI:1924755	OMIM:619712|ORPHA:137893|ORPHA:399805	Spermatogenic Failure 65|Male Infertility Due To Large-Headed Multiflagellar Polyploid Spermatozoa|Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	yes	no	yes	no	NA
DNLZ	HGNC:33879	MGI:106559	-	-	no	no	no	no	NA
DNM1	HGNC:2972	MGI:107384	OMIM:616346|OMIM:620352|ORPHA:2382|ORPHA:442835	Developmental And Epileptic Encephalopathy 31A|Developmental And Epileptic Encephalopathy 31B|Lennox-Gastaut Syndrome|Non-Specific Early-Onset Epileptic Encephalopathy	yes	yes	yes	yes	38.115
DNM1L	HGNC:2973	MGI:1921256	OMIM:614388|OMIM:610708|ORPHA:330050|ORPHA:98673	Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1|Optic Atrophy 5|Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect|Autosomal Dominant Optic Atrophy, Classic Form	yes	yes	yes	yes	56.29
DNM2	HGNC:2974	MGI:109547	OMIM:160150|OMIM:606482|OMIM:615368|ORPHA:169189|ORPHA:228179|ORPHA:363409|ORPHA:100044	Myopathy, Centronuclear, 1|Charcot-Marie-Tooth Disease, Dominant Intermediate B|Lethal Congenital Contracture Syndrome 5|Autosomal Dominant Centronuclear Myopathy|Autosomal Dominant Charcot-Marie-Tooth Disease Type 2M|Fetal Akinesia-Cerebral And Retinal Hemorrhage Syndrome|Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B	yes	yes	yes	yes	40.555
DNM3	HGNC:29125	MGI:1341299	-	-	no	no	no	no	NA
DNMBP	HGNC:30373	MGI:1917352	OMIM:618415|ORPHA:98994	Cataract 48|Total Early-Onset Cataract	yes	yes	yes	no	NA
DNMT1	HGNC:2976	MGI:94912	OMIM:604121|OMIM:614116|ORPHA:314404|ORPHA:456318	Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant|Neuropathy, Hereditary Sensory, Type Ie|Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome|Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome	no	no	no	no	NA
DNMT3A	HGNC:2978	MGI:1261827	OMIM:601626|OMIM:618724|OMIM:615879|ORPHA:276621|ORPHA:404443|ORPHA:86845	Leukemia, Acute Myeloid|Heyn-Sproul-Jackson Syndrome|Tatton-Brown-Rahman Syndrome|Sporadic Pheochromocytoma/Secreting Paraganglioma|Acute Myeloid Leukaemia With Myelodysplasia-Related Features	yes	yes	yes	yes	33.835
DNMT3B	HGNC:2979	MGI:1261819	OMIM:619478|OMIM:242860|ORPHA:269|ORPHA:2268	Facioscapulohumeral Muscular Dystrophy 4, Digenic|Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1|Facioscapulohumeral Dystrophy|Icf Syndrome	yes	yes	yes	yes	28.815
DNMT3L	HGNC:2980	MGI:1859287	-	-	yes	no	no	no	NA
DNPEP	HGNC:2981	MGI:1278328	-	-	yes	no	no	no	NA
DNPH1	HGNC:21218	MGI:3039376	-	-	no	no	no	no	NA
DNTT	HGNC:2983	MGI:98659	-	-	yes	no	no	no	NA
DNTTIP1	HGNC:16160	MGI:1923483	-	-	yes	no	no	no	NA
DNTTIP2	HGNC:24013	MGI:1923173	-	-	no	no	no	no	NA
DOC2A	HGNC:2985	MGI:109446	-	-	no	no	no	no	NA
DOC2B	HGNC:2986	MGI:1100497	-	-	no	no	no	no	NA
DOCK1	HGNC:2987	MGI:2429765	-	-	no	no	no	no	NA
DOCK10	HGNC:23479	MGI:2146320	-	-	yes	no	no	no	NA
DOCK11	HGNC:23483	MGI:1923224	OMIM:301109	Autoinflammatory Disease, Multisystem, With Immune Dysregulation, X-Linked	yes	yes	no	no	NA
DOCK2	HGNC:2988	MGI:2149010	OMIM:616433|ORPHA:447737	Immunodeficiency 40|Dock2 Deficiency	yes	yes	yes	yes	22.375
DOCK3	HGNC:2989	MGI:2429763	OMIM:618292|ORPHA:528084	Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia|Non-Specific Syndromic Intellectual Disability	no	no	no	no	NA
DOCK4	HGNC:19192	MGI:1918006	-	-	yes	no	no	no	NA
DOCK5	HGNC:23476	MGI:2652871	-	-	no	no	no	no	NA
DOCK6	HGNC:19189	MGI:1914789	OMIM:614219|ORPHA:974	Adams-Oliver Syndrome 2|Adams-Oliver Syndrome	yes	yes	yes	yes	27.895
DOCK7	HGNC:19190	MGI:1914549	OMIM:615859|ORPHA:411986	Developmental And Epileptic Encephalopathy 23|Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	no	no	no	no	NA
DOCK8	HGNC:19191	MGI:1921396	OMIM:243700|ORPHA:178469|ORPHA:217390|ORPHA:641368	Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections|Autosomal Dominant Non-Syndromic Intellectual Disability|Combined Immunodeficiency Due To Dock8 Deficiency|Autosomal Recessive Hyper-Ige Syndrome	no	no	no	no	NA
DOCK9	HGNC:14132	MGI:106321	-	-	yes	no	no	no	NA
DOHH	HGNC:28662	MGI:1915964	OMIM:620066|ORPHA:528084	Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment|Non-Specific Syndromic Intellectual Disability	no	no	no	no	NA
DOK1	HGNC:2990	MGI:893587	-	-	no	no	no	no	NA
DOK2	HGNC:2991	MGI:1332623	-	-	no	no	no	no	NA
DOK3	HGNC:24583	MGI:1351490	-	-	no	no	no	no	NA
DOK4	HGNC:19868	MGI:2148865	-	-	yes	no	no	no	NA
DOK5	HGNC:16173	MGI:1924079	-	-	yes	no	no	no	NA
DOK6	HGNC:28301	MGI:3639495	-	-	yes	no	no	no	NA
DOK7	HGNC:26594	MGI:3584043	OMIM:618389|OMIM:254300|ORPHA:994|ORPHA:98913	Fetal Akinesia Deformation Sequence 3|Myasthenic Syndrome, Congenital, 10|Fetal Akinesia Deformation Sequence|Postsynaptic Congenital Myasthenic Syndromes	yes	yes	yes	yes	15.835
DOLK	HGNC:23406	MGI:2677836	OMIM:610768|ORPHA:154|ORPHA:91131	Congenital Disorder Of Glycosylation, Type Im|Familial Isolated Dilated Cardiomyopathy|Dk1-Cdg	yes	yes	yes	no	NA
DOLPP1	HGNC:29565	MGI:1914093	-	-	no	no	no	no	NA
DONSON	HGNC:2993	MGI:1890621	OMIM:617604|OMIM:251230|ORPHA:572773|ORPHA:572768	Microcephaly, Short Stature, And Limb Abnormalities|Microcephaly-Micromelia Syndrome|Microcephaly-Short Stature-Limb Abnormalities Syndrome	yes	no	yes	no	NA
DOP1A	HGNC:21194	MGI:1289294	-	-	yes	no	no	no	NA
DOP1B	HGNC:1291	MGI:1917278	-	-	yes	no	no	no	NA
DOT1L	HGNC:24948	MGI:2143886	-	-	yes	no	no	no	NA
DPAGT1	HGNC:2995	MGI:1196396	OMIM:608093|OMIM:614750|ORPHA:353327|ORPHA:86309	Congenital Disorder Of Glycosylation, Type Ij|Myasthenic Syndrome, Congenital, 13|Congenital Myasthenic Syndromes With Glycosylation Defect|Dpagt1-Cdg	no	no	no	no	NA
DPCD	HGNC:24542	MGI:1924407	-	-	no	no	no	no	NA
DPEP1	HGNC:3002	MGI:94917	-	-	yes	no	no	no	NA
DPEP2	HGNC:23028	MGI:2442042	-	-	no	no	no	no	NA
DPEP3	HGNC:23029	MGI:1919104	-	-	no	no	no	no	NA
DPF1	HGNC:20225	MGI:1352748	-	-	yes	no	no	no	NA
DPF2	HGNC:9964	MGI:109529	OMIM:618027|ORPHA:1465	Coffin-Siris Syndrome 7|Coffin-Siris Syndrome	yes	yes	yes	yes	33.445
DPF3	HGNC:17427	MGI:1917377	-	-	yes	no	no	no	NA
DPH1	HGNC:3003	MGI:2151233	OMIM:616901|ORPHA:459061	Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1|Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	no	no	no	no	NA
DPH2	HGNC:3004	MGI:1914978	OMIM:620062|ORPHA:459061	Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2|Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	yes	yes	yes	no	NA
DPH3	HGNC:27717	MGI:1922658	-	-	no	no	no	no	NA
DPH5	HGNC:24270	MGI:1916990	OMIM:620070	Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	no	no	no	no	NA
DPH6	HGNC:30543	MGI:1913882	-	-	yes	no	no	no	NA
DPH7	HGNC:25199	MGI:1914478	-	-	no	no	no	no	NA
DPM1	HGNC:3005	MGI:1330239	OMIM:608799|ORPHA:79322	Congenital Disorder Of Glycosylation, Type Ie|Dpm1-Cdg	yes	yes	yes	no	NA
DPM2	HGNC:3006	MGI:1330238	OMIM:615042|ORPHA:329178	Congenital Disorder Of Glycosylation, Type Iu|Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	yes	yes	yes	yes	32.495
DPM3	HGNC:3007	MGI:1915813	OMIM:618992|OMIM:612937|ORPHA:263494	Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15|Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15|Dpm3-Cdg	yes	yes	yes	no	NA
DPP10	HGNC:20823	MGI:2442409	-	-	yes	no	no	no	NA
DPP3	HGNC:3008	MGI:1922471	-	-	yes	no	no	no	NA
DPP4	HGNC:3009	MGI:94919	-	-	yes	no	no	no	NA
DPP6	HGNC:3010	MGI:94921	OMIM:616311|OMIM:612956|ORPHA:2514|ORPHA:228140	Intellectual Developmental Disorder, Autosomal Dominant 33|Ventricular Fibrillation, Paroxysmal Familial, 2|Autosomal Dominant Primary Microcephaly|Idiopathic Ventricular Fibrillation, Non Brugada Type	no	no	no	no	NA
DPP7	HGNC:14892	MGI:1933213	-	-	no	no	no	no	NA
DPP8	HGNC:16490	MGI:1921638	-	-	yes	no	no	no	NA
DPP9	HGNC:18648	MGI:2443967	OMIM:620331|ORPHA:2032	Hatipoglu Immunodeficiency Syndrome|Idiopathic Pulmonary Fibrosis	yes	yes	yes	no	NA
DPPA2	HGNC:19197	MGI:2157523	-	-	no	no	no	no	NA
DPPA3	HGNC:19199	MGI:1920958	-	-	no	no	no	no	NA
DPPA4	HGNC:19200	MGI:2157525	-	-	no	no	no	no	NA
DPPA5	HGNC:19201	MGI:101800	-	-	no	no	no	no	NA
DPT	HGNC:3011	MGI:1928392	-	-	no	no	no	no	NA
DPY19L1	HGNC:22205	MGI:1915685	-	-	yes	no	no	no	NA
DPY19L2	HGNC:19414	MGI:2444662	OMIM:613958|ORPHA:171709	Spermatogenic Failure 9|Male Infertility Due To Globozoospermia	no	no	no	no	NA
DPY19L3	HGNC:27120	MGI:2443952	-	-	yes	no	no	no	NA
DPY19L4	HGNC:27829	MGI:2685869	-	-	no	no	no	no	NA
DPY30	HGNC:24590	MGI:1913560	-	-	yes	no	no	no	NA
DPYD	HGNC:3012	MGI:2139667	OMIM:274270|ORPHA:1675|ORPHA:293948	Dihydropyrimidine Dehydrogenase Deficiency|1P21.3 Microdeletion Syndrome	yes	yes	yes	yes	50.25
DPYS	HGNC:3013	MGI:1928679	OMIM:222748|ORPHA:38874	Dihydropyrimidinase Deficiency|Dihydropyrimidinuria	no	no	no	no	NA
DPYSL2	HGNC:3014	MGI:1349763	ORPHA:178469	Autosomal Dominant Non-Syndromic Intellectual Disability	no	no	no	no	NA
DPYSL3	HGNC:3015	MGI:1349762	-	-	no	no	no	no	NA
DPYSL4	HGNC:3016	MGI:1349764	-	-	no	no	no	no	NA
DPYSL5	HGNC:20637	MGI:1929772	OMIM:619435|ORPHA:7|ORPHA:528084	Ritscher-Schinzel Syndrome 4|3C Syndrome|Non-Specific Syndromic Intellectual Disability	no	no	no	no	NA
DQX1	HGNC:20410	MGI:2136388	-	-	no	no	no	no	NA
DR1	HGNC:3017	MGI:1100515	-	-	no	no	no	no	NA
DRAM1	HGNC:25645	MGI:1918962	-	-	yes	no	no	no	NA
DRAM2	HGNC:28769	MGI:1914421	OMIM:616502|ORPHA:1872	Cone-Rod Dystrophy 21|Cone Rod Dystrophy	yes	yes	yes	yes	21.77
DRAP1	HGNC:3019	MGI:1913806	-	-	no	no	no	no	NA
DRAXIN	HGNC:25054	MGI:1917683	-	-	no	no	no	no	NA
DRC1	HGNC:24245	MGI:2685906	OMIM:615294|OMIM:620222|ORPHA:244|ORPHA:276234	Ciliary Dyskinesia, Primary, 21|Spermatogenic Failure 80|Primary Ciliary Dyskinesia|Non-Syndromic Male Infertility Due To Sperm Motility Disorder	yes	yes	yes	yes	74.64
DRC12	HGNC:27446	MGI:2448587	-	-	no	no	no	no	NA
DRC3	HGNC:25384	MGI:1921915	-	-	no	no	no	no	NA
DRC7	HGNC:25289	MGI:2685616	-	-	yes	no	no	no	NA
DRD1	HGNC:3020	MGI:99578	-	-	no	no	no	no	NA
DRD2	HGNC:3023	MGI:94924	ORPHA:36899	Myoclonus-Dystonia Syndrome	no	no	no	no	NA
DRD3	HGNC:3024	MGI:94925	OMIM:181500|OMIM:190300|ORPHA:862	Schizophrenia|Tremor, Hereditary Essential, 1|Non Rare In Europe: Hereditary Essential Tremor	yes	yes	yes	no	NA
DRD4	HGNC:3025	MGI:94926	OMIM:143465	Attention Deficit-Hyperactivity Disorder	no	no	no	no	NA
DRD5	HGNC:3026	MGI:94927	OMIM:143465|OMIM:606798	Attention Deficit-Hyperactivity Disorder|Blepharospasm, Benign Essential, Susceptibility To	no	no	no	no	NA
DRG1	HGNC:3029	MGI:1343297	-	-	yes	no	no	no	NA
DRG2	HGNC:3030	MGI:1342307	-	-	yes	no	no	no	NA
DRGX	HGNC:21536	MGI:2148204	-	-	yes	no	no	no	NA
DROSHA	HGNC:17904	MGI:1261425	-	-	no	no	no	no	NA
DRP2	HGNC:3032	MGI:107432	-	-	no	no	no	no	NA
DSC1	HGNC:3035	MGI:109173	-	-	no	no	no	no	NA
DSC2	HGNC:3036	MGI:103221	OMIM:610476|ORPHA:293910|ORPHA:293899|ORPHA:293888	Arrhythmogenic Right Ventricular Dysplasia, Familial, 11|Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form|Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form|Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form	yes	yes	yes	yes	32.74
DSC3	HGNC:3037	MGI:1194993	OMIM:613102|ORPHA:217407	Hypotrichosis And Recurrent Skin Vesicles|Hereditary Hypotrichosis With Recurrent Skin Vesicles	yes	yes	yes	no	NA
DSCAM	HGNC:3039	MGI:1196281	-	-	no	no	no	no	NA
DSCAML1	HGNC:14656	MGI:2150309	-	-	no	no	no	no	NA
DSCC1	HGNC:24453	MGI:1919357	-	-	yes	no	no	no	NA
DSE	HGNC:21144	MGI:2443455	OMIM:615539|ORPHA:2953	Ehlers-Danlos Syndrome, Musculocontractural Type, 2|Musculocontractural Ehlers-Danlos Syndrome	yes	yes	yes	no	NA
DSEL	HGNC:18144	MGI:2442948	-	-	no	no	no	no	NA
DSG2	HGNC:3049	MGI:1196466	OMIM:610193|OMIM:612877|ORPHA:154|ORPHA:293910|ORPHA:293899|ORPHA:293888	Arrhythmogenic Right Ventricular Dysplasia, Familial, 10|Cardiomyopathy, Dilated, 1Bb|Familial Isolated Dilated Cardiomyopathy|Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form|Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form|Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form	yes	yes	yes	yes	47.01
DSG3	HGNC:3050	MGI:99499	OMIM:619226	Blistering, Acantholytic, Of Oral And Laryngeal Mucosa	no	no	no	no	NA
DSG4	HGNC:21307	MGI:2661061	OMIM:607903|ORPHA:573|ORPHA:55654	Hypotrichosis 6|Monilethrix|Hypotrichosis Simplex	no	no	no	no	NA
DSN1	HGNC:16165	MGI:1914184	-	-	no	no	no	no	NA
DSP	HGNC:3052	MGI:109611	OMIM:607450|OMIM:605676|OMIM:615821|OMIM:609638|OMIM:612908|ORPHA:154|ORPHA:158687|ORPHA:369992|ORPHA:293910|ORPHA:293899|ORPHA:293888|ORPHA:293165|ORPHA:2032|ORPHA:476096|ORPHA:65282|ORPHA:50942	Arrhythmogenic Right Ventricular Dysplasia, Familial, 8|Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma|Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis|Epidermolysis Bullosa, Lethal Acantholytic|Keratosis Palmoplantaris Striata Ii|Familial Isolated Dilated Cardiomyopathy|Lethal Acantholytic Erosive Disorder|Severe Dermatitis-Multiple Allergies-Metabolic Wasting Syndrome|Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form|Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form|Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form|Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome|Idiopathic Pulmonary Fibrosis|Erythrokeratodermia-Cardiomyopathy Syndrome|Carvajal Syndrome|Striate Palmoplantar Keratoderma	yes	yes	yes	yes	27.33
DSPP	HGNC:3054	MGI:109172	OMIM:605594|OMIM:125420|OMIM:125490|OMIM:125500|ORPHA:166260|ORPHA:166265|ORPHA:99789|ORPHA:99791	Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1|Dentin Dysplasia, Type Ii|Dentinogenesis Imperfecta 1|Dentinogenesis Imperfecta, Shields Type Iii|Dentinogenesis Imperfecta Type 2|Dentinogenesis Imperfecta Type 3|Dentin Dysplasia Type I|Dentin Dysplasia Type Ii	yes	yes	yes	no	NA
DST	HGNC:1090	MGI:104627	OMIM:615425|OMIM:614653|ORPHA:314381|ORPHA:412181	Epidermolysis Bullosa Simplex 3, Localized Or Generalized Intermediate, With Bp230 Deficiency|Neuropathy, Hereditary Sensory And Autonomic, Type Vi|Hereditary Sensory And Autonomic Neuropathy Type 6|Epidermolysis Bullosa Simplex Due To Bp230 Deficiency	yes	yes	yes	yes	17.86
DSTN	HGNC:15750	MGI:1929270	-	-	yes	no	no	no	NA
DSTYK	HGNC:29043	MGI:1925064	OMIM:610805|OMIM:270750|ORPHA:93100|ORPHA:101003	Congenital Anomalies Of Kidney And Urinary Tract 1|Spastic Paraplegia 23, Autosomal Recessive|Renal Agenesis, Unilateral|Autosomal Recessive Spastic Paraplegia Type 23	no	no	no	no	NA
DTD1	HGNC:16219	MGI:1913294	-	-	no	no	no	no	NA
DTD2	HGNC:20277	MGI:1923485	-	-	no	no	no	no	NA
DTHD1	HGNC:37261	MGI:4937018	-	-	yes	no	no	no	NA
DTL	HGNC:30288	MGI:1924093	-	-	yes	no	no	no	NA
DTNA	HGNC:3057	MGI:106039	OMIM:604169|ORPHA:54260	Left Ventricular Noncompaction 1|Left Ventricular Noncompaction	no	no	no	no	NA
DTNB	HGNC:3058	MGI:1203728	-	-	no	no	no	no	NA
DTNBP1	HGNC:17328	MGI:2137586	OMIM:614076|ORPHA:231531	Hermansky-Pudlak Syndrome 7|Hermansky-Pudlak Syndrome Due To Bloc-1 Deficiency	yes	yes	yes	yes	45.945
DTWD1	HGNC:30926	MGI:1916435	-	-	yes	no	no	no	NA
DTWD2	HGNC:19334	MGI:1916107	-	-	no	no	no	no	NA
DTX1	HGNC:3060	MGI:1352744	-	-	yes	no	no	no	NA
DTX2	HGNC:15973	MGI:1921448	-	-	yes	no	no	no	NA
DTX3	HGNC:24457	MGI:2135752	-	-	yes	no	no	no	NA
DTX3L	HGNC:30323	MGI:2656973	-	-	yes	no	no	no	NA
DTX4	HGNC:29151	MGI:2672905	-	-	yes	no	no	no	NA
DTYMK	HGNC:3061	MGI:108396	OMIM:619847	Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	no	no	no	no	NA
DUOX1	HGNC:3062	MGI:2139422	-	-	yes	no	no	no	NA
DUOX2	HGNC:13273	MGI:3036280	OMIM:607200|ORPHA:226316|ORPHA:95716	Thyroid Dyshormonogenesis 6|Genetic Transient Congenital Hypothyroidism|Familial Thyroid Dyshormonogenesis	yes	yes	yes	yes	37.07
DUOXA1	HGNC:26507	MGI:2384861	-	-	no	no	no	no	NA
DUOXA2	HGNC:32698	MGI:1914061	OMIM:274900|ORPHA:95716	Thyroid Dyshormonogenesis 5|Familial Thyroid Dyshormonogenesis	yes	yes	yes	yes	40.8
DUS1L	HGNC:30086	MGI:1915980	-	-	no	no	no	no	NA
DUS2	HGNC:26014	MGI:1913619	-	-	yes	no	no	no	NA
DUS3L	HGNC:26920	MGI:2147092	-	-	no	no	no	no	NA
DUS4L	HGNC:21517	MGI:1919166	-	-	no	no	no	no	NA
DUSP1	HGNC:3064	MGI:105120	-	-	yes	no	no	no	NA
DUSP10	HGNC:3065	MGI:1927070	-	-	no	no	no	no	NA
DUSP11	HGNC:3066	MGI:1919352	-	-	yes	no	no	no	NA
DUSP12	HGNC:3067	MGI:1890614	-	-	yes	no	no	no	NA
DUSP13B	HGNC:19681	MGI:1351599	-	-	yes	no	no	no	NA
DUSP14	HGNC:17007	MGI:1927168	-	-	no	no	no	no	NA
DUSP15	HGNC:16236	MGI:1934928	-	-	yes	no	no	no	NA
DUSP16	HGNC:17909	MGI:1917936	-	-	yes	no	no	no	NA
DUSP18	HGNC:18484	MGI:1922469	-	-	yes	no	no	no	NA
DUSP19	HGNC:18894	MGI:1915332	-	-	no	no	no	no	NA
DUSP2	HGNC:3068	MGI:101911	-	-	no	no	no	no	NA
DUSP21	HGNC:20476	MGI:1920797	-	-	no	no	no	no	NA
DUSP22	HGNC:16077	MGI:1915926	-	-	yes	no	no	no	NA
DUSP23	HGNC:21480	MGI:1915690	-	-	yes	no	no	no	NA
DUSP26	HGNC:28161	MGI:1914209	-	-	yes	no	no	no	NA
DUSP28	HGNC:33237	MGI:1914696	-	-	no	no	no	no	NA
DUSP29	HGNC:23481	MGI:3647127	-	-	yes	no	no	no	NA
DUSP3	HGNC:3069	MGI:1919599	-	-	yes	no	no	no	NA
DUSP4	HGNC:3070	MGI:2442191	-	-	yes	no	no	no	NA
DUSP5	HGNC:3071	MGI:2685183	-	-	yes	no	no	no	NA
DUSP6	HGNC:3072	MGI:1914853	OMIM:615269|ORPHA:478|ORPHA:432	Hypogonadotropic Hypogonadism 19 With Or Without Anosmia|Kallmann Syndrome|Normosmic Congenital Hypogonadotropic Hypogonadism	no	no	no	no	NA
DUSP7	HGNC:3073	MGI:2387100	-	-	yes	no	no	no	NA
DUSP8	HGNC:3074	MGI:106626	-	-	yes	no	no	no	NA
DUSP9	HGNC:3076	MGI:2387107	-	-	no	no	no	no	NA
DUT	HGNC:3078	MGI:1346051	OMIM:620044	Bone Marrow Failure And Diabetes Mellitus Syndrome	no	no	no	no	NA
DVL1	HGNC:3084	MGI:94941	OMIM:616331|ORPHA:3107	Robinow Syndrome, Autosomal Dominant 2|Autosomal Dominant Robinow Syndrome	no	no	no	no	NA
DVL2	HGNC:3086	MGI:106613	-	-	no	no	no	no	NA
DVL3	HGNC:3087	MGI:108100	OMIM:616894|ORPHA:3107	Robinow Syndrome, Autosomal Dominant 3|Autosomal Dominant Robinow Syndrome	no	no	no	no	NA
DXO	HGNC:2992	MGI:1890444	-	-	no	no	no	no	NA
DYDC1	HGNC:23460	MGI:1916746	-	-	no	no	no	no	NA
DYDC2	HGNC:23468	MGI:1918450	-	-	yes	no	no	no	NA
DYM	HGNC:21317	MGI:1918480	OMIM:223800|OMIM:607326|ORPHA:239|ORPHA:178355	Dyggve-Melchior-Clausen Disease|Smith-Mccort Dysplasia 1|Smith-Mccort Dysplasia	yes	yes	yes	yes	46.665
DYNC1H1	HGNC:2961	MGI:103147	OMIM:614228|OMIM:614563|OMIM:158600|ORPHA:178469|ORPHA:209341|ORPHA:284232	Charcot-Marie-Tooth Disease, Axonal, Type 2O|Cortical Dysplasia, Complex, With Other Brain Malformations 13|Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant|Autosomal Dominant Non-Syndromic Intellectual Disability|Dync1H1-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy|Autosomal Dominant Charcot-Marie-Tooth Disease Type 2O	yes	yes	yes	yes	39.885
DYNC1I1	HGNC:2963	MGI:107743	-	-	no	no	no	no	NA
DYNC1I2	HGNC:2964	MGI:107750	OMIM:618492	Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	yes	yes	yes	no	NA
DYNC1LI1	HGNC:18745	MGI:2135610	-	-	yes	no	no	no	NA
DYNC1LI2	HGNC:2966	MGI:107738	-	-	yes	no	no	no	NA
DYNC2H1	HGNC:2962	MGI:107736	OMIM:613091|ORPHA:474|ORPHA:93271|ORPHA:93269|ORPHA:93270	Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly|Jeune Syndrome|Short Rib-Polydactyly Syndrome, Verma-Naumoff Type|Short Rib-Polydactyly Syndrome, Majewski Type|Short Rib-Polydactyly Syndrome, Saldino-Noonan Type	yes	yes	yes	no	NA
DYNC2I1	HGNC:21862	MGI:2445085	OMIM:615503|ORPHA:474|ORPHA:93271	Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly|Jeune Syndrome|Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	yes	yes	yes	yes	28.51
DYNC2I2	HGNC:28296	MGI:1919070	OMIM:615633|ORPHA:474|ORPHA:93271	Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly|Jeune Syndrome|Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	no	no	no	no	NA
DYNC2LI1	HGNC:24595	MGI:1913996	OMIM:617088|ORPHA:474|ORPHA:289	Short-Rib Thoracic Dysplasia 15 With Polydactyly|Jeune Syndrome|Ellis Van Creveld Syndrome	no	no	no	no	NA
DYNLL1	HGNC:15476	MGI:1861457	-	-	yes	no	no	no	NA
DYNLL2	HGNC:24596	MGI:1915347	-	-	no	no	no	no	NA
DYNLRB1	HGNC:15468	MGI:1914318	-	-	yes	no	no	no	NA
DYNLRB2	HGNC:15467	MGI:1922715	-	-	yes	no	no	no	NA
DYNLT2B	HGNC:28482	MGI:1913311	OMIM:617405	Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	yes	yes	yes	no	NA
DYNLT3	HGNC:11694	MGI:1914367	-	-	no	no	no	no	NA
DYNLT4	HGNC:32315	MGI:3045358	-	-	yes	no	no	no	NA
DYNLT5	HGNC:26882	MGI:1914594	-	-	no	no	no	no	NA
DYRK1A	HGNC:3091	MGI:1330299	OMIM:614104|ORPHA:268261|ORPHA:464311	Intellectual Developmental Disorder, Autosomal Dominant 7|Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion|Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	no	no	no	no	NA
DYRK1B	HGNC:3092	MGI:1330302	OMIM:615812|ORPHA:411969	Abdominal Obesity-Metabolic Syndrome 3|Non Rare In Europe: Metabolic Syndrome	yes	yes	yes	no	NA
DYRK2	HGNC:3093	MGI:1330301	-	-	yes	no	no	no	NA
DYRK3	HGNC:3094	MGI:1330300	-	-	no	no	no	no	NA
DYRK4	HGNC:3095	MGI:1330292	-	-	no	no	no	no	NA
DYSF	HGNC:3097	MGI:1349385	OMIM:254130|OMIM:253601|OMIM:606768|ORPHA:178400|ORPHA:199329|ORPHA:268|ORPHA:45448	Miyoshi Muscular Dystrophy 1|Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2|Myopathy, Distal, With Anterior Tibial Onset|Distal Myopathy With Anterior Tibial Onset|Congenital Myopathy, Paradas Type|Dysferlin-Related Limb-Girdle Muscular Dystrophy R2|Miyoshi Myopathy	no	no	no	no	NA
DYTN	HGNC:23279	MGI:2685061	-	-	yes	no	no	no	NA
DZANK1	HGNC:15858	MGI:2139080	-	-	yes	no	no	no	NA
DZIP1	HGNC:20908	MGI:1914311	OMIM:610840|OMIM:619102	Mitral Valve Prolapse 3|Spermatogenic Failure 47	no	no	no	no	NA
DZIP1L	HGNC:26551	MGI:1919757	OMIM:617610|ORPHA:731	Polycystic Kidney Disease 5|Autosomal Recessive Polycystic Kidney Disease	yes	yes	yes	yes	26.56
DZIP3	HGNC:30938	MGI:1917433	-	-	no	no	no	no	NA
E2F1	HGNC:3113	MGI:101941	-	-	no	no	no	no	NA
E2F2	HGNC:3114	MGI:1096341	-	-	no	no	no	no	NA
E2F3	HGNC:3115	MGI:1096340	-	-	yes	no	no	no	NA
E2F4	HGNC:3118	MGI:103012	-	-	no	no	no	no	NA
E2F5	HGNC:3119	MGI:105091	-	-	no	no	no	no	NA
E2F6	HGNC:3120	MGI:1354159	-	-	no	no	no	no	NA
E2F7	HGNC:23820	MGI:1289147	-	-	no	no	no	no	NA
E2F8	HGNC:24727	MGI:1922038	-	-	no	no	no	no	NA
E4F1	HGNC:3121	MGI:109530	-	-	no	no	no	no	NA
EAF1	HGNC:20907	MGI:1921677	-	-	yes	no	no	no	NA
EAF2	HGNC:23115	MGI:2146616	-	-	no	no	no	no	NA
EAPP	HGNC:19312	MGI:1913516	-	-	no	no	no	no	NA
EARS2	HGNC:29419	MGI:1914667	OMIM:614924|ORPHA:314051	Combined Oxidative Phosphorylation Deficiency 12|Leukoencephalopathy-Thalamus And Brainstem Anomalies-High Lactate Syndrome	yes	no	yes	no	NA
EBAG9	HGNC:3123	MGI:1859920	-	-	no	no	no	no	NA
EBF1	HGNC:3126	MGI:95275	-	-	yes	no	no	no	NA
EBF2	HGNC:19090	MGI:894332	-	-	yes	no	no	no	NA
EBF3	HGNC:19087	MGI:894289	OMIM:617330	Hypotonia, Ataxia, And Delayed Development Syndrome	yes	no	yes	no	NA
EBF4	HGNC:29278	MGI:2385972	-	-	yes	no	no	no	NA
EBI3	HGNC:3129	MGI:1354171	-	-	no	no	no	no	NA
EBNA1BP2	HGNC:15531	MGI:1916322	-	-	yes	no	no	no	NA
EBP	HGNC:3133	MGI:107822	OMIM:302960|OMIM:300960|ORPHA:401973|ORPHA:35173	Chondrodysplasia Punctata 2, X-Linked Dominant|Mend Syndrome|X-Linked Dominant Chondrodysplasia Punctata	no	no	no	no	NA
EBPL	HGNC:18061	MGI:1915427	-	-	no	no	no	no	NA
ECD	HGNC:17029	MGI:1917851	-	-	no	no	no	no	NA
ECE1	HGNC:3146	MGI:1101357	OMIM:613870|OMIM:145500|ORPHA:388	Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction|Hypertension, Essential|Hirschsprung Disease	no	no	no	no	NA
ECE2	HGNC:13275	MGI:1101356	-	-	no	no	no	no	NA
ECEL1	HGNC:3147	MGI:1343461	OMIM:615065|ORPHA:329457	Arthrogryposis, Distal, Type 5D|Distal Arthrogryposis Type 5D	no	no	no	no	NA
ECH1	HGNC:3149	MGI:1858208	-	-	yes	no	no	no	NA
ECHDC1	HGNC:21489	MGI:1277169	-	-	yes	no	no	no	NA
ECHDC2	HGNC:23408	MGI:1289238	-	-	no	no	no	no	NA
ECHDC3	HGNC:23489	MGI:1915106	-	-	yes	no	no	no	NA
ECHS1	HGNC:3151	MGI:2136460	OMIM:616277	Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	yes	no	yes	no	NA
ECI1	HGNC:2703	MGI:94871	-	-	no	no	no	no	NA
ECM1	HGNC:3153	MGI:103060	OMIM:247100|ORPHA:530	Lipoid Proteinosis Of Urbach And Wiethe|Lipoid Proteinosis	yes	yes	yes	no	NA
ECM2	HGNC:3154	MGI:3039578	-	-	yes	no	no	no	NA
ECPAS	HGNC:29020	MGI:2140220	-	-	yes	no	no	no	NA
ECRG4	HGNC:24642	MGI:1926146	-	-	yes	no	no	no	NA
ECSCR	HGNC:35454	MGI:1915795	-	-	yes	no	no	no	NA
ECSIT	HGNC:29548	MGI:1349469	-	-	no	no	no	no	NA
ECT2	HGNC:3155	MGI:95281	-	-	yes	no	no	no	NA
ECT2L	HGNC:21118	MGI:3641723	-	-	yes	no	no	no	NA
EDA	HGNC:3157	MGI:1195272	OMIM:305100|OMIM:313500|ORPHA:181|ORPHA:2227|ORPHA:99798	Ectodermal Dysplasia 1, Hypohidrotic, X-Linked|Tooth Agenesis, Selective, X-Linked, 1|X-Linked Hypohidrotic Ectodermal Dysplasia|Non Rare In Europe: Hypodontia|Oligodontia	yes	no	yes	no	NA
EDA2R	HGNC:17756	MGI:2442860	ORPHA:181	X-Linked Hypohidrotic Ectodermal Dysplasia	no	no	no	no	NA
EDAR	HGNC:2895	MGI:1343498	OMIM:129490|OMIM:224900|OMIM:612630|ORPHA:248|ORPHA:1810	Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant|Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive|Hair Morphology 1|Autosomal Recessive Hypohidrotic Ectodermal Dysplasia|Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	yes	yes	yes	no	NA
EDARADD	HGNC:14341	MGI:1931001	OMIM:614940|OMIM:614941|ORPHA:248|ORPHA:1810|ORPHA:99798	Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant|Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive|Autosomal Recessive Hypohidrotic Ectodermal Dysplasia|Autosomal Dominant Hypohidrotic Ectodermal Dysplasia|Oligodontia	yes	yes	yes	no	NA
EDC3	HGNC:26114	MGI:2142951	OMIM:616460|ORPHA:88616	Intellectual Developmental Disorder, Autosomal Recessive 50|Autosomal Recessive Non-Syndromic Intellectual Disability	yes	yes	yes	no	NA
EDC4	HGNC:17157	MGI:2446249	-	-	yes	no	no	no	NA
EDDM13	HGNC:53168	MGI:3643580	-	-	no	no	no	no	NA
EDEM1	HGNC:18967	MGI:2180139	-	-	yes	no	no	no	NA
EDEM2	HGNC:15877	MGI:1915540	-	-	no	no	no	no	NA
EDEM3	HGNC:16787	MGI:1914217	OMIM:619493|ORPHA:528084	Congenital Disorder Of Glycosylation, Type 2V|Non-Specific Syndromic Intellectual Disability	yes	yes	yes	yes	21.18
EDF1	HGNC:3164	MGI:1891227	-	-	no	no	no	no	NA
EDIL3	HGNC:3173	MGI:1329025	-	-	no	no	no	no	NA
EDN1	HGNC:3176	MGI:95283	OMIM:615706|OMIM:612798|ORPHA:137888	Auriculocondylar Syndrome 3|Question Mark Ears, Isolated|Auriculocondylar Syndrome	no	no	no	no	NA
EDN2	HGNC:3177	MGI:95284	-	-	yes	no	no	no	NA
EDN3	HGNC:3178	MGI:95285	OMIM:613265|OMIM:613712|ORPHA:388|ORPHA:897|ORPHA:661	Waardenburg Syndrome, Type 4B|Hirschsprung Disease, Susceptibility To, 4|Hirschsprung Disease|Waardenburg-Shah Syndrome|Congenital Central Hypoventilation Syndrome	no	no	no	no	NA
EDNRA	HGNC:3179	MGI:105923	OMIM:616367|OMIM:157300|ORPHA:586|ORPHA:443995	Mandibulofacial Dysostosis With Alopecia|Migraine With Or Without Aura, Susceptibility To, 1|Cystic Fibrosis	yes	yes	yes	no	NA
EDNRB	HGNC:3180	MGI:102720	OMIM:600501|OMIM:277580|OMIM:600155|ORPHA:895|ORPHA:388|ORPHA:897	Abcd Syndrome|Waardenburg Syndrome, Type 4A|Hirschsprung Disease, Susceptibility To, 2|Waardenburg Syndrome Type 2|Hirschsprung Disease|Waardenburg-Shah Syndrome	no	no	no	no	NA
EDRF1	HGNC:24640	MGI:1919831	-	-	no	no	no	no	NA
EEA1	HGNC:3185	MGI:2442192	-	-	yes	no	no	no	NA
EED	HGNC:3188	MGI:95286	OMIM:617561|ORPHA:3447	Cohen-Gibson Syndrome|Weaver Syndrome	no	no	no	no	NA
EEF1A1	HGNC:3189	MGI:1096881	-	-	no	no	no	no	NA
EEF1A2	HGNC:3192	MGI:1096317	OMIM:616409|OMIM:616393|ORPHA:178469|ORPHA:442835	Developmental And Epileptic Encephalopathy 33|Intellectual Developmental Disorder, Autosomal Dominant 38|Autosomal Dominant Non-Syndromic Intellectual Disability|Non-Specific Early-Onset Epileptic Encephalopathy	yes	no	yes	no	NA
EEF1AKMT1	HGNC:27351	MGI:1915293	-	-	yes	no	no	no	NA
EEF1AKMT2	HGNC:33787	MGI:1919346	-	-	yes	no	no	no	NA
EEF1AKMT3	HGNC:24936	MGI:3645330	-	-	no	no	no	no	NA
EEF1AKMT4	HGNC:53611	MGI:5903914	-	-	no	no	no	no	NA
EEF1B2	HGNC:3208	MGI:1929520	ORPHA:88616	Autosomal Recessive Non-Syndromic Intellectual Disability	yes	yes	no	no	NA
EEF1D	HGNC:3211	MGI:1913906	-	-	yes	no	no	no	NA
EEF1E1	HGNC:3212	MGI:1913393	-	-	no	no	no	no	NA
EEF1G	HGNC:3213	MGI:1914410	-	-	no	no	no	no	NA
EEF2	HGNC:3214	MGI:95288	OMIM:609306|ORPHA:101112	Spinocerebellar Ataxia 26|Spinocerebellar Ataxia Type 26	no	no	no	no	NA
EEF2K	HGNC:24615	MGI:1195261	-	-	no	no	no	no	NA
EEFSEC	HGNC:24614	MGI:2137092	-	-	no	no	no	no	NA
EEIG1	HGNC:31419	MGI:2138935	-	-	no	no	no	no	NA
EEIG2	HGNC:27637	MGI:3036259	-	-	no	no	no	no	NA
EEPD1	HGNC:22223	MGI:1914734	-	-	yes	no	no	no	NA
EFCAB10	HGNC:34531	MGI:1922290	-	-	no	no	no	no	NA
EFCAB11	HGNC:20357	MGI:1926017	-	-	yes	no	no	no	NA
EFCAB12	HGNC:28061	MGI:2681834	-	-	no	no	no	no	NA
EFCAB14	HGNC:29051	MGI:2442397	-	-	yes	no	no	no	NA
EFCAB2	HGNC:28166	MGI:1915476	-	-	yes	no	no	no	NA
EFCAB3	HGNC:26379	MGI:1918144	-	-	yes	no	no	no	NA
EFCAB5	HGNC:24801	MGI:2442440	-	-	yes	no	no	no	NA
EFCAB6	HGNC:24204	MGI:1924877	-	-	yes	no	no	no	NA
EFCAB7	HGNC:29379	MGI:2385199	-	-	yes	no	no	no	NA
EFCAB8	HGNC:34532	MGI:3644206	-	-	no	no	no	no	NA
EFCAB9	HGNC:34530	MGI:1916556	-	-	yes	no	no	no	NA
EFCC1	HGNC:25692	MGI:3611451	-	-	yes	no	no	no	NA
EFEMP1	HGNC:3218	MGI:1339998	OMIM:126600|ORPHA:75376|ORPHA:98977	Doyne Honeycomb Retinal Dystrophy|Familial Drusen|Juvenile Glaucoma	yes	yes	yes	no	NA
EFEMP2	HGNC:3219	MGI:1891209	OMIM:614437|ORPHA:314718|ORPHA:90349	Cutis Laxa, Autosomal Recessive, Type Ib|Lethal Arteriopathy Syndrome Due To Fibulin-4 Deficiency|Autosomal Recessive Cutis Laxa Type 1	no	no	no	no	NA
EFHB	HGNC:26330	MGI:3045296	-	-	yes	no	no	no	NA
EFHC1	HGNC:16406	MGI:1919127	OMIM:607631|OMIM:254770|ORPHA:307|ORPHA:1941	Epilepsy, Juvenile Absence, Susceptibility To, 1|Epilepsy, Myoclonic Juvenile|Juvenile Myoclonic Epilepsy|Juvenile Absence Epilepsy	no	no	no	no	NA
EFHC2	HGNC:26233	MGI:1921655	-	-	yes	no	no	no	NA
EFHD1	HGNC:29556	MGI:1921607	-	-	yes	no	no	no	NA
EFHD2	HGNC:28670	MGI:106504	-	-	no	no	no	no	NA
EFL1	HGNC:25789	MGI:2141969	OMIM:617941|ORPHA:811	Shwachman-Diamond Syndrome 2|Shwachman-Diamond Syndrome	yes	yes	yes	no	NA
EFNA1	HGNC:3221	MGI:103236	-	-	yes	no	no	no	NA
EFNA2	HGNC:3222	MGI:102707	-	-	yes	no	no	no	NA
EFNA3	HGNC:3223	MGI:106644	-	-	no	no	no	no	NA
EFNA4	HGNC:3224	MGI:106643	-	-	yes	no	no	no	NA
EFNA5	HGNC:3225	MGI:107444	-	-	yes	no	no	no	NA
EFNB1	HGNC:3226	MGI:102708	OMIM:304110|ORPHA:1520	Craniofrontonasal Syndrome|Craniofrontonasal Dysplasia	no	no	no	no	NA
EFNB2	HGNC:3227	MGI:105097	-	-	no	no	no	no	NA
EFNB3	HGNC:3228	MGI:109196	-	-	no	no	no	no	NA
EFR3A	HGNC:28970	MGI:1923990	-	-	yes	no	no	no	NA
EFR3B	HGNC:29155	MGI:2444851	-	-	yes	no	no	no	NA
EFS	HGNC:16898	MGI:105311	-	-	no	no	no	no	NA
EFTUD2	HGNC:30858	MGI:1336880	OMIM:610536|ORPHA:79113	Mandibulofacial Dysostosis, Guion-Almeida Type|Mandibulofacial Dysostosis-Microcephaly Syndrome	yes	yes	yes	yes	28.765
EGF	HGNC:3229	MGI:95290	OMIM:611718|ORPHA:210159|ORPHA:620368	Hypomagnesemia 4, Renal|Adult Hepatocellular Carcinoma|Egf-Related Primary Hypomagnesemia With Intellectual Disability	no	no	no	no	NA
EGFL6	HGNC:3235	MGI:1858599	-	-	yes	no	no	no	NA
EGFL7	HGNC:20594	MGI:2449923	-	-	no	no	no	no	NA
EGFL8	HGNC:13944	MGI:1932094	-	-	yes	no	no	no	NA
EGFLAM	HGNC:26810	MGI:2146149	-	-	no	no	no	no	NA
EGFR	HGNC:3236	MGI:95294	OMIM:616069|OMIM:211980|ORPHA:251576|ORPHA:251579|ORPHA:294023	Inflammatory Skin And Bowel Disease, Neonatal, 2|Lung Cancer|Gliosarcoma|Giant Cell Glioblastoma|Neonatal Inflammatory Skin And Bowel Disease	yes	yes	yes	no	NA
EGLN1	HGNC:1232	MGI:1932286	OMIM:609820|OMIM:609070|ORPHA:247511	Erythrocytosis, Familial, 3|Hemoglobin, High Altitude Adaptation|Autosomal Dominant Secondary Polycythemia	no	no	no	no	NA
EGLN2	HGNC:14660	MGI:1932287	-	-	no	no	no	no	NA
EGLN3	HGNC:14661	MGI:1932288	-	-	yes	no	no	no	NA
EGR1	HGNC:3238	MGI:95295	-	-	yes	no	no	no	NA
EGR2	HGNC:3239	MGI:95296	OMIM:607678|OMIM:145900|OMIM:605253|ORPHA:64748|ORPHA:101084|ORPHA:99951	Charcot-Marie-Tooth Disease, Demyelinating, Type 1D|Hypertrophic Neuropathy Of Dejerine-Sottas|Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive|Dejerine-Sottas Syndrome|Charcot-Marie-Tooth Disease Type 1D|Charcot-Marie-Tooth Disease Type 4E	no	no	no	no	NA
EGR3	HGNC:3240	MGI:1306780	-	-	no	no	no	no	NA
EGR4	HGNC:3241	MGI:99252	-	-	yes	no	no	no	NA
EHBP1	HGNC:29144	MGI:2667252	OMIM:611868	Prostate Cancer, Hereditary, 12	yes	yes	no	no	NA
EHBP1L1	HGNC:30682	MGI:3612340	-	-	yes	no	no	no	NA
EHD1	HGNC:3242	MGI:1341878	-	-	yes	no	no	no	NA
EHD2	HGNC:3243	MGI:2154274	-	-	yes	no	no	no	NA
EHD3	HGNC:3244	MGI:1928900	-	-	no	no	no	no	NA
EHD4	HGNC:3245	MGI:1919619	-	-	no	no	no	no	NA
EHF	HGNC:3246	MGI:1270840	-	-	yes	no	no	no	NA
EHHADH	HGNC:3247	MGI:1277964	OMIM:615605|ORPHA:300|ORPHA:3337	Fanconi Renotubular Syndrome 3|Bifunctional Enzyme Deficiency|Primary Fanconi Renotubular Syndrome	yes	yes	yes	yes	40.09
EHMT1	HGNC:24650	MGI:1924933	OMIM:610253|ORPHA:261652|ORPHA:96147	Kleefstra Syndrome 1|Kleefstra Syndrome Due To A Point Mutation|Kleefstra Syndrome Due To 9Q34 Microdeletion	yes	yes	yes	yes	33.095
EHMT2	HGNC:14129	MGI:2148922	-	-	yes	no	no	no	NA
EI24	HGNC:13276	MGI:108090	-	-	no	no	no	no	NA
EID1	HGNC:1191	MGI:1889651	-	-	no	no	no	no	NA
EID2	HGNC:28292	MGI:2681174	-	-	yes	no	no	no	NA
EID2B	HGNC:26796	MGI:1924095	-	-	yes	no	no	no	NA
EID3	HGNC:32961	MGI:1913591	-	-	no	no	no	no	NA
EIF1	HGNC:3249	MGI:105125	-	-	no	no	no	no	NA
EIF1AD	HGNC:28147	MGI:1917110	-	-	yes	no	no	no	NA
EIF1B	HGNC:30792	MGI:1916219	-	-	yes	no	no	no	NA
EIF2A	HGNC:3254	MGI:1098684	-	-	yes	no	no	no	NA
EIF2AK1	HGNC:24921	MGI:1353448	OMIM:618878	Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome	yes	yes	yes	no	NA
EIF2AK2	HGNC:9437	MGI:1353449	OMIM:619687|OMIM:618877|ORPHA:256	Dystonia 33|Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome|Early-Onset Generalized Limb-Onset Dystonia	yes	yes	yes	no	NA
EIF2AK3	HGNC:3255	MGI:1341830	OMIM:226980|ORPHA:1667	Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus|Wolcott-Rallison Syndrome	no	no	no	no	NA
EIF2AK4	HGNC:19687	MGI:1353427	OMIM:234810|ORPHA:199241|ORPHA:275777|ORPHA:31837	Pulmonary Venoocclusive Disease 2, Autosomal Recessive|Pulmonary Capillary Hemangiomatosis|Heritable Pulmonary Arterial Hypertension|Pulmonary Venoocclusive Disease	no	no	no	no	NA
EIF2B1	HGNC:3257	MGI:2384802	OMIM:603896|ORPHA:157716|ORPHA:157719|ORPHA:157713|ORPHA:99853|ORPHA:99854	Leukoencephalopathy With Vanishing White Matter 1|Late Infantile Cach Syndrome|Juvenile Or Adult Cach Syndrome|Congenital Or Early Infantile Cach Syndrome|Ovarioleukodystrophy|Cree Leukoencephalopathy	no	no	no	no	NA
EIF2B2	HGNC:3258	MGI:2145118	OMIM:620312|ORPHA:157716|ORPHA:157719|ORPHA:157713|ORPHA:99853|ORPHA:99854	Leukoencephalopathy With Vanishing White Matter 2|Late Infantile Cach Syndrome|Juvenile Or Adult Cach Syndrome|Congenital Or Early Infantile Cach Syndrome|Ovarioleukodystrophy|Cree Leukoencephalopathy	yes	no	yes	no	NA
EIF2B3	HGNC:3259	MGI:1313286	OMIM:620313|ORPHA:157716|ORPHA:157719|ORPHA:157713|ORPHA:99853|ORPHA:99854	Leukoencephalopathy With Vanishing White Matter 3|Late Infantile Cach Syndrome|Juvenile Or Adult Cach Syndrome|Congenital Or Early Infantile Cach Syndrome|Ovarioleukodystrophy|Cree Leukoencephalopathy	yes	yes	yes	no	NA
EIF2B4	HGNC:3260	MGI:95300	OMIM:620314|ORPHA:157716|ORPHA:157719|ORPHA:157713|ORPHA:99853|ORPHA:99854	Leukoencephalopathy With Vanishing White Matter 4|Late Infantile Cach Syndrome|Juvenile Or Adult Cach Syndrome|Congenital Or Early Infantile Cach Syndrome|Ovarioleukodystrophy|Cree Leukoencephalopathy	yes	yes	yes	no	NA
EIF2B5	HGNC:3261	MGI:2446176	OMIM:620315|ORPHA:157716|ORPHA:157719|ORPHA:157713|ORPHA:99853|ORPHA:99854	Leukoencephalopathy With Vanishing White Matter 5|Late Infantile Cach Syndrome|Juvenile Or Adult Cach Syndrome|Congenital Or Early Infantile Cach Syndrome|Ovarioleukodystrophy|Cree Leukoencephalopathy	yes	yes	yes	no	NA
EIF2D	HGNC:6583	MGI:109342	-	-	yes	no	no	no	NA
EIF2S1	HGNC:3265	MGI:95299	-	-	yes	no	no	no	NA
EIF2S2	HGNC:3266	MGI:1914454	-	-	yes	no	no	no	NA
EIF3A	HGNC:3271	MGI:95301	-	-	no	no	no	no	NA
EIF3B	HGNC:3280	MGI:106478	-	-	no	no	no	no	NA
EIF3D	HGNC:3278	MGI:1933181	-	-	no	no	no	no	NA
EIF3E	HGNC:3277	MGI:99257	-	-	no	no	no	no	NA
EIF3F	HGNC:3275	MGI:1913335	OMIM:618295	Intellectual Developmental Disorder, Autosomal Recessive 67	yes	yes	yes	no	NA
EIF3G	HGNC:3274	MGI:1858258	-	-	no	no	no	no	NA
EIF3H	HGNC:3273	MGI:1915385	-	-	yes	no	no	no	NA
EIF3I	HGNC:3272	MGI:1860763	-	-	no	no	no	no	NA
EIF3K	HGNC:24656	MGI:1921080	-	-	yes	no	no	no	NA
EIF3L	HGNC:18138	MGI:2386251	-	-	no	no	no	no	NA
EIF3M	HGNC:24460	MGI:1351744	-	-	no	no	no	no	NA
EIF4A1	HGNC:3282	MGI:95303	-	-	no	no	no	no	NA
EIF4A2	HGNC:3284	MGI:106906	OMIM:620455|ORPHA:528084	Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures|Non-Specific Syndromic Intellectual Disability	no	no	no	no	NA
EIF4A3	HGNC:18683	MGI:1923731	OMIM:268305|ORPHA:3102	Robin Sequence With Cleft Mandible And Limb Anomalies|Richieri Costa-Pereira Syndrome	no	no	no	no	NA
EIF4B	HGNC:3285	MGI:95304	-	-	yes	no	no	no	NA
EIF4E	HGNC:3287	MGI:95305	OMIM:615091|ORPHA:106	Autism, Susceptibility To, 19|Non Rare In Europe: Autism	yes	yes	no	no	NA
EIF4E1B	HGNC:33179	MGI:2685119	-	-	yes	no	no	no	NA
EIF4E2	HGNC:3293	MGI:1914440	-	-	no	no	no	no	NA
EIF4E3	HGNC:31837	MGI:1914142	-	-	yes	no	no	no	NA
EIF4EBP1	HGNC:3288	MGI:103267	-	-	no	no	no	no	NA
EIF4EBP2	HGNC:3289	MGI:109198	-	-	no	no	no	no	NA
EIF4EBP3	HGNC:3290	MGI:1270847	-	-	yes	no	no	no	NA
EIF4ENIF1	HGNC:16687	MGI:1921453	ORPHA:619	Non Rare In Europe: Primary Ovarian Failure	yes	yes	no	no	NA
EIF4G1	HGNC:3296	MGI:2384784	OMIM:614251|ORPHA:411602	Parkinson Disease 18, Autosomal Dominant, Susceptibility To|Hereditary Late-Onset Parkinson Disease	yes	yes	yes	yes	14.71
EIF4G2	HGNC:3297	MGI:109207	-	-	yes	no	no	no	NA
EIF4G3	HGNC:3298	MGI:1923935	-	-	no	no	no	no	NA
EIF4H	HGNC:12741	MGI:1341822	ORPHA:904	Williams Syndrome	yes	yes	yes	yes	24.48
EIF5	HGNC:3299	MGI:95309	-	-	no	no	no	no	NA
EIF5A2	HGNC:3301	MGI:1933735	-	-	no	no	no	no	NA
EIF5B	HGNC:30793	MGI:2441772	-	-	yes	no	no	no	NA
EIF6	HGNC:6159	MGI:1196288	-	-	no	no	no	no	NA
EIPR1	HGNC:12383	MGI:1289332	-	-	yes	no	no	no	NA
ELAC1	HGNC:14197	MGI:1890495	-	-	no	no	no	no	NA
ELAC2	HGNC:14198	MGI:1890496	OMIM:615440|OMIM:614731|ORPHA:1331|ORPHA:369913	Combined Oxidative Phosphorylation Deficiency 17|Prostate Cancer, Hereditary, 2|Familial Prostate Cancer|Combined Oxidative Phosphorylation Defect Type 17	yes	yes	yes	no	NA
ELANE	HGNC:3309	MGI:2679229	OMIM:162800|OMIM:202700|ORPHA:486|ORPHA:2686	Cyclic Neutropenia|Neutropenia, Severe Congenital, 1, Autosomal Dominant|Autosomal Dominant Severe Congenital Neutropenia	no	no	no	no	NA
ELAPOR1	HGNC:29618	MGI:1923930	-	-	yes	no	no	no	NA
ELAPOR2	HGNC:21945	MGI:2443264	-	-	yes	no	no	no	NA
ELAVL1	HGNC:3312	MGI:1100851	-	-	yes	no	no	no	NA
ELAVL2	HGNC:3313	MGI:1100887	-	-	yes	no	no	no	NA
ELAVL3	HGNC:3314	MGI:109157	-	-	no	no	no	no	NA
ELAVL4	HGNC:3315	MGI:107427	-	-	yes	no	no	no	NA
ELF1	HGNC:3316	MGI:107180	-	-	no	no	no	no	NA
ELF2	HGNC:3317	MGI:1916507	-	-	no	no	no	no	NA
ELF3	HGNC:3318	MGI:1101781	-	-	yes	no	no	no	NA
ELF4	HGNC:3319	MGI:1928377	OMIM:301074|ORPHA:632|ORPHA:476102	Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2|Short Stature Due To Isolated Growth Hormone Deficiency With X-Linked Hypogammaglobulinemia|Hereditary Pediatric Behçet-Like Disease	no	no	no	no	NA
ELF5	HGNC:3320	MGI:1335079	-	-	no	no	no	no	NA
ELFN1	HGNC:33154	MGI:2442479	-	-	yes	no	no	no	NA
ELFN2	HGNC:29396	MGI:3608416	-	-	yes	no	no	no	NA
ELK1	HGNC:3321	MGI:101833	-	-	yes	no	no	no	NA
ELK3	HGNC:3325	MGI:101762	-	-	yes	no	no	no	NA
ELK4	HGNC:3326	MGI:102853	-	-	yes	no	no	no	NA
ELL	HGNC:23114	MGI:109377	-	-	no	no	no	no	NA
ELL2	HGNC:17064	MGI:2183438	-	-	yes	no	no	no	NA
ELL3	HGNC:23113	MGI:2673679	-	-	yes	no	no	no	NA
ELMO1	HGNC:16286	MGI:2153044	-	-	yes	no	no	no	NA
ELMO2	HGNC:17233	MGI:2153045	OMIM:606893|ORPHA:140436|ORPHA:3019	Vascular Malformation, Primary Intraosseous|Primary Intraosseous Venous Malformation|Ramon Syndrome	no	no	no	no	NA
ELMO3	HGNC:17289	MGI:2679007	-	-	yes	no	no	no	NA
ELMOD1	HGNC:25334	MGI:3583900	-	-	yes	no	no	no	NA
ELMOD2	HGNC:28111	MGI:2445165	-	-	yes	no	no	no	NA
ELMOD3	HGNC:26158	MGI:2445168	OMIM:619500|OMIM:615429|ORPHA:90636	Deafness, Autosomal Dominant 81|Deafness, Autosomal Recessive 88|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	yes	yes	yes	no	NA
ELN	HGNC:3327	MGI:95317	OMIM:123700|OMIM:185500|ORPHA:904|ORPHA:3193|ORPHA:90348|ORPHA:91387	Cutis Laxa, Autosomal Dominant 1|Supravalvular Aortic Stenosis|Williams Syndrome|Autosomal Dominant Cutis Laxa|Familial Thoracic Aortic Aneurysm And Aortic Dissection	no	no	no	no	NA
ELOA	HGNC:11620	MGI:1351315	-	-	yes	no	no	no	NA
ELOB	HGNC:11619	MGI:1914923	-	-	no	no	no	no	NA
ELOC	HGNC:11617	MGI:1915173	-	-	no	no	no	no	NA
ELOF1	HGNC:28691	MGI:1913376	-	-	yes	no	no	no	NA
ELOVL1	HGNC:14418	MGI:1858959	OMIM:618527	Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	no	no	no	no	NA
ELOVL2	HGNC:14416	MGI:1858960	-	-	no	no	no	no	NA
ELOVL3	HGNC:18047	MGI:1195976	-	-	no	no	no	no	NA
ELOVL4	HGNC:14415	MGI:1933331	OMIM:614457|OMIM:133190|OMIM:600110|ORPHA:827|ORPHA:1955|ORPHA:352333	Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development|Spinocerebellar Ataxia 34|Stargardt Disease 3|Stargardt Disease|Spinocerebellar Ataxia Type 34|Congenital Ichthyosis-Intellectual Disability-Spastic Quadriplegia Syndrome	yes	yes	yes	no	NA
ELOVL5	HGNC:21308	MGI:1916051	OMIM:615957|ORPHA:423296	Spinocerebellar Ataxia 38|Spinocerebellar Ataxia Type 38	yes	no	yes	no	NA
ELOVL6	HGNC:15829	MGI:2156528	-	-	yes	no	no	no	NA
ELOVL7	HGNC:26292	MGI:1921809	-	-	no	no	no	no	NA
ELP1	HGNC:5959	MGI:1914544	OMIM:223900|OMIM:155255|ORPHA:1764	Neuropathy, Hereditary Sensory And Autonomic, Type Iii|Medulloblastoma|Familial Dysautonomia	yes	yes	yes	no	NA
ELP2	HGNC:18248	MGI:1889642	OMIM:617270	Intellectual Developmental Disorder, Autosomal Recessive 58	no	no	no	no	NA
ELP3	HGNC:20696	MGI:1921445	-	-	no	no	no	no	NA
ELP4	HGNC:1171	MGI:1925016	OMIM:617141	Aniridia 2	no	no	no	no	NA
ELP5	HGNC:30617	MGI:1859017	-	-	no	no	no	no	NA
ELP6	HGNC:25976	MGI:1919349	-	-	yes	no	no	no	NA
EMB	HGNC:30465	MGI:95321	-	-	yes	no	no	no	NA
EMC1	HGNC:28957	MGI:2443696	OMIM:616875|ORPHA:480898	Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation|Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	no	no	no	no	NA
EMC10	HGNC:27609	MGI:1916933	OMIM:619264|ORPHA:528084	Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures|Non-Specific Syndromic Intellectual Disability	yes	yes	yes	no	NA
EMC2	HGNC:28963	MGI:1913986	-	-	no	no	no	no	NA
EMC3	HGNC:23999	MGI:1913337	-	-	yes	no	no	no	NA
EMC4	HGNC:28032	MGI:1915282	-	-	yes	no	no	no	NA
EMC6	HGNC:28430	MGI:1913298	-	-	yes	no	no	no	NA
EMC7	HGNC:24301	MGI:1920274	-	-	yes	no	no	no	NA
EMC8	HGNC:7864	MGI:1343095	-	-	yes	no	no	no	NA
EMC9	HGNC:20273	MGI:1934682	-	-	no	no	no	no	NA
EMCN	HGNC:16041	MGI:1891716	-	-	yes	no	no	no	NA
EMD	HGNC:3331	MGI:108117	OMIM:310300|ORPHA:98863	Emery-Dreifuss Muscular Dystrophy 1, X-Linked|X-Linked Emery-Dreifuss Muscular Dystrophy	yes	yes	yes	yes	21.74
EME1	HGNC:24965	MGI:3576783	-	-	yes	no	no	no	NA
EME2	HGNC:27289	MGI:1919889	-	-	no	no	no	no	NA
EMG1	HGNC:16912	MGI:1315195	OMIM:211180|ORPHA:1270	Bowen-Conradi Syndrome	yes	yes	yes	no	NA
EMID1	HGNC:18036	MGI:2155091	-	-	yes	no	no	no	NA
EMILIN1	HGNC:19880	MGI:1926189	OMIM:620080|ORPHA:485418	Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10|Emilin-1-Related Connective Tissue Disease	no	no	no	no	NA
EMILIN2	HGNC:19881	MGI:2389136	-	-	yes	no	no	no	NA
EMILIN3	HGNC:16123	MGI:2389142	-	-	yes	no	no	no	NA
EML1	HGNC:3330	MGI:1915769	OMIM:600348|ORPHA:99796	Band Heterotopia|Subcortical Band Heterotopia	yes	yes	yes	no	NA
EML2	HGNC:18035	MGI:1919455	-	-	yes	no	no	no	NA
EML3	HGNC:26666	MGI:2387612	-	-	no	no	no	no	NA
EML4	HGNC:1316	MGI:1926048	-	-	yes	no	no	no	NA
EML5	HGNC:18197	MGI:2442513	-	-	no	no	no	no	NA
EML6	HGNC:35412	MGI:2442895	-	-	no	no	no	no	NA
EMP1	HGNC:3333	MGI:107941	-	-	yes	no	no	no	NA
EMP2	HGNC:3334	MGI:1098726	OMIM:615861|ORPHA:656	Nephrotic Syndrome, Type 10|Genetic Steroid-Resistant Nephrotic Syndrome	no	no	no	no	NA
EMP3	HGNC:3335	MGI:1098729	-	-	yes	no	no	no	NA
EMSY	HGNC:18071	MGI:1924203	-	-	yes	no	no	no	NA
EMX1	HGNC:3340	MGI:95387	-	-	yes	no	no	no	NA
EMX2	HGNC:3341	MGI:95388	OMIM:269160|ORPHA:485275	Schizencephaly|Acquired Schizencephaly	no	no	no	no	NA
EN1	HGNC:3342	MGI:95389	OMIM:619218	Endove Syndrome, Limb-Brain Type	no	no	no	no	NA
EN2	HGNC:3343	MGI:95390	ORPHA:106	Non Rare In Europe: Autism	no	no	no	no	NA
ENAH	HGNC:18271	MGI:108360	-	-	no	no	no	no	NA
ENAM	HGNC:3344	MGI:1333772	OMIM:104500|OMIM:204650|ORPHA:100031	Amelogenesis Imperfecta, Type Ib|Amelogenesis Imperfecta, Type Ic|Hypoplastic Amelogenesis Imperfecta	yes	yes	yes	no	NA
ENC1	HGNC:3345	MGI:109610	-	-	yes	no	no	no	NA
ENDOD1	HGNC:29129	MGI:1919196	-	-	no	no	no	no	NA
ENDOG	HGNC:3346	MGI:1261433	-	-	yes	no	no	no	NA
ENDOU	HGNC:14369	MGI:97746	-	-	yes	no	no	no	NA
ENDOV	HGNC:26640	MGI:2444688	-	-	yes	no	no	no	NA
ENG	HGNC:3349	MGI:95392	OMIM:187300|ORPHA:774|ORPHA:275777|ORPHA:231160|ORPHA:329971	Telangiectasia, Hereditary Hemorrhagic, Type 1|Hereditary Hemorrhagic Telangiectasia|Heritable Pulmonary Arterial Hypertension|Familial Cerebral Saccular Aneurysm|Generalized Juvenile Polyposis/Juvenile Polyposis Coli	yes	yes	yes	yes	19.41
ENGASE	HGNC:24622	MGI:2443788	-	-	no	no	no	no	NA
ENHO	HGNC:24838	MGI:1916888	-	-	yes	no	no	no	NA
ENKD1	HGNC:25246	MGI:2142593	-	-	yes	no	no	no	NA
ENKUR	HGNC:28388	MGI:1918483	-	-	yes	no	no	no	NA
ENO2	HGNC:3353	MGI:95394	-	-	yes	no	no	no	NA
ENO3	HGNC:3354	MGI:95395	OMIM:612932|ORPHA:99849	Glycogen Storage Disease Xiii|Glycogen Storage Disease Due To Muscle Beta-Enolase Deficiency	yes	yes	yes	no	NA
ENO4	HGNC:31670	MGI:2441717	-	-	no	no	no	no	NA
ENOPH1	HGNC:24599	MGI:1915120	-	-	no	no	no	no	NA
ENOX1	HGNC:25474	MGI:2444896	-	-	yes	no	no	no	NA
ENOX2	HGNC:2259	MGI:2384799	-	-	yes	no	no	no	NA
ENPEP	HGNC:3355	MGI:106645	-	-	yes	no	no	no	NA
ENPP1	HGNC:3356	MGI:97370	OMIM:208000|OMIM:615522|OMIM:125853|OMIM:613312|OMIM:601665|ORPHA:758|ORPHA:324561|ORPHA:289176|ORPHA:51608	Arterial Calcification, Generalized, Of Infancy, 1|Cole Disease|Type 2 Diabetes Mellitus|Hypophosphatemic Rickets, Autosomal Recessive, 2|Obesity|Pseudoxanthoma Elasticum|Hypopigmentation-Punctate Palmoplantar Keratoderma Syndrome|Autosomal Recessive Hypophosphatemic Rickets|Generalized Arterial Calcification Of Infancy	no	no	no	no	NA
ENPP2	HGNC:3357	MGI:1321390	-	-	no	no	no	no	NA
ENPP3	HGNC:3358	MGI:2143702	-	-	no	no	no	no	NA
ENPP4	HGNC:3359	MGI:2682634	-	-	yes	no	no	no	NA
ENPP5	HGNC:13717	MGI:1933830	-	-	yes	no	no	no	NA
ENPP6	HGNC:23409	MGI:2445171	-	-	no	no	no	no	NA
ENPP7	HGNC:23764	MGI:3027917	-	-	no	no	no	no	NA
ENSA	HGNC:3360	MGI:1891189	-	-	yes	no	no	no	NA
ENTHD1	HGNC:26352	MGI:2686088	-	-	no	no	no	no	NA
ENTPD1	HGNC:3363	MGI:102805	OMIM:615683|ORPHA:401810	Spastic Paraplegia 64, Autosomal Recessive|Autosomal Recessive Spastic Paraplegia Type 64	yes	yes	yes	yes	33.46
ENTPD2	HGNC:3364	MGI:1096863	-	-	no	no	no	no	NA
ENTPD3	HGNC:3365	MGI:1321386	-	-	no	no	no	no	NA
ENTPD5	HGNC:3367	MGI:1321385	-	-	no	no	no	no	NA
ENTPD6	HGNC:3368	MGI:1202295	-	-	yes	no	no	no	NA
ENTPD7	HGNC:19745	MGI:2135885	-	-	no	no	no	no	NA
ENTPD8	HGNC:24860	MGI:1919340	-	-	yes	no	no	no	NA
ENTR1	HGNC:10667	MGI:1915362	-	-	yes	no	no	no	NA
ENTREP1	HGNC:24820	MGI:2685813	-	-	yes	no	no	no	NA
ENTREP2	HGNC:29075	MGI:1917888	-	-	no	no	no	no	NA
ENTREP3	HGNC:1233	MGI:1915771	-	-	no	no	no	no	NA
ENY2	HGNC:24449	MGI:1919286	-	-	yes	no	no	no	NA
EOGT	HGNC:28526	MGI:2141669	OMIM:615297|ORPHA:974	Adams-Oliver Syndrome 4|Adams-Oliver Syndrome	yes	yes	yes	no	NA
EOMES	HGNC:3372	MGI:1201683	ORPHA:171703	Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	yes	yes	yes	no	NA
EP300	HGNC:3373	MGI:1276116	OMIM:114500|OMIM:618333|OMIM:613684|ORPHA:353284	Colorectal Cancer|Menke-Hennekam Syndrome 2|Rubinstein-Taybi Syndrome 2|Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	no	no	no	no	NA
EP400	HGNC:11958	MGI:1276124	-	-	yes	no	no	no	NA
EPAS1	HGNC:3374	MGI:109169	OMIM:611783|ORPHA:247511|ORPHA:276621|ORPHA:324299	Erythrocytosis, Familial, 4|Autosomal Dominant Secondary Polycythemia|Sporadic Pheochromocytoma/Secreting Paraganglioma|Multiple Paragangliomas Associated With Polycythemia	yes	yes	yes	yes	44.56
EPB41	HGNC:3377	MGI:95401	OMIM:611804|ORPHA:288	Elliptocytosis 1|Hereditary Elliptocytosis	yes	yes	yes	yes	47.37
EPB41L1	HGNC:3378	MGI:103010	OMIM:614257|ORPHA:178469	Chromosome 20Q11-Q12 Deletion Syndrome|Autosomal Dominant Non-Syndromic Intellectual Disability	yes	yes	yes	no	NA
EPB41L2	HGNC:3379	MGI:103009	-	-	no	no	no	no	NA
EPB41L3	HGNC:3380	MGI:103008	-	-	no	no	no	no	NA
EPB41L4A	HGNC:13278	MGI:103007	-	-	yes	no	no	no	NA
EPB41L4B	HGNC:19818	MGI:1859149	-	-	yes	no	no	no	NA
EPB41L5	HGNC:19819	MGI:103006	-	-	yes	no	no	no	NA
EPB42	HGNC:3381	MGI:95402	OMIM:612690|ORPHA:822	Spherocytosis, Type 5|Hereditary Spherocytosis	no	no	no	no	NA
EPC1	HGNC:19876	MGI:1278322	-	-	yes	no	no	no	NA
EPC2	HGNC:24543	MGI:1278321	-	-	yes	no	no	no	NA
EPCAM	HGNC:11529	MGI:106653	OMIM:613217|OMIM:613244|ORPHA:144|ORPHA:92050	Diarrhea 5, With Tufting Enteropathy, Congenital|Lynch Syndrome 8|Lynch Syndrome|Congenital Tufting Enteropathy	no	no	no	no	NA
EPCIP	HGNC:1305	MGI:1921637	-	-	yes	no	no	no	NA
EPDR1	HGNC:17572	MGI:2145369	-	-	yes	no	no	no	NA
EPG5	HGNC:29331	MGI:1918673	OMIM:242840|ORPHA:1493	Vici Syndrome	yes	yes	yes	yes	47.485
EPGN	HGNC:17470	MGI:1919170	-	-	yes	no	no	no	NA
EPHA1	HGNC:3385	MGI:107381	-	-	no	no	no	no	NA
EPHA10	HGNC:19987	MGI:3586824	OMIM:620283	Deafness, Autosomal Dominant 88	yes	yes	yes	no	NA
EPHA2	HGNC:3386	MGI:95278	OMIM:116600|ORPHA:441447|ORPHA:98991|ORPHA:98994|ORPHA:98993	Cataract 6, Multiple Types|Early-Onset Posterior Subcapsular Cataract|Early-Onset Nuclear Cataract|Total Early-Onset Cataract|Early-Onset Posterior Polar Cataract	yes	yes	yes	no	NA
EPHA3	HGNC:3387	MGI:99612	-	-	yes	no	no	no	NA
EPHA4	HGNC:3388	MGI:98277	ORPHA:803	Amyotrophic Lateral Sclerosis	no	no	no	no	NA
EPHA5	HGNC:3389	MGI:99654	-	-	yes	no	no	no	NA
EPHA6	HGNC:19296	MGI:108034	-	-	yes	no	no	no	NA
EPHA7	HGNC:3390	MGI:95276	-	-	no	no	no	no	NA
EPHA8	HGNC:3391	MGI:109378	-	-	no	no	no	no	NA
EPHB1	HGNC:3392	MGI:1096337	-	-	yes	no	no	no	NA
EPHB2	HGNC:3393	MGI:99611	OMIM:618462|OMIM:603688|ORPHA:1331	Bleeding Disorder, Platelet-Type, 22|Prostate Cancer/Brain Cancer Susceptibility|Familial Prostate Cancer	yes	yes	yes	no	NA
EPHB3	HGNC:3394	MGI:104770	-	-	no	no	no	no	NA
EPHB4	HGNC:3395	MGI:104757	OMIM:618196|OMIM:617300|ORPHA:1053|ORPHA:137667|ORPHA:568065|ORPHA:90186	Capillary Malformation-Arteriovenous Malformation 2|Lymphatic Malformation 7|Vein Of Galen Aneurysmal Malformation|Capillary Malformation-Arteriovenous Malformation|Ephb4-Related Lymphatic-Related Hydrops Fetalis|Meige Disease	no	no	no	no	NA
EPHB6	HGNC:3396	MGI:1096338	-	-	no	no	no	no	NA
EPHX1	HGNC:3401	MGI:95405	ORPHA:238475	Familial Hypercholanemia	yes	yes	no	no	NA
EPHX2	HGNC:3402	MGI:99500	OMIM:143890	Hypercholesterolemia, Familial, 1	no	no	no	no	NA
EPHX3	HGNC:23760	MGI:1919182	-	-	no	no	no	no	NA
EPHX4	HGNC:23758	MGI:2686228	-	-	no	no	no	no	NA
EPM2A	HGNC:3413	MGI:1341085	OMIM:254780|ORPHA:501	Myoclonic Epilepsy Of Lafora|Lafora Disease	no	no	no	no	NA
EPM2AIP1	HGNC:19735	MGI:1925031	-	-	no	no	no	no	NA
EPN1	HGNC:21604	MGI:1333763	-	-	no	no	no	no	NA
EPN2	HGNC:18639	MGI:1333766	-	-	no	no	no	no	NA
EPN3	HGNC:18235	MGI:1919139	-	-	yes	no	no	no	NA
EPO	HGNC:3415	MGI:95407	OMIM:617911|OMIM:617907|OMIM:612623|ORPHA:247511	Diamond-Blackfan Anemia-Like|Erythrocytosis, Familial, 5|Microvascular Complications Of Diabetes, Susceptibility To, 2|Autosomal Dominant Secondary Polycythemia	no	no	no	no	NA
EPOP	HGNC:34493	MGI:2143991	-	-	no	no	no	no	NA
EPOR	HGNC:3416	MGI:95408	OMIM:133100|ORPHA:90042	Erythrocytosis, Familial, 1|Primary Familial Polycythemia	no	no	no	no	NA
EPPIN	HGNC:15932	MGI:1922776	-	-	yes	no	no	no	NA
EPPK1	HGNC:15577	MGI:2386306	-	-	no	no	no	no	NA
EPRS1	HGNC:3418	MGI:97838	OMIM:617951	Leukodystrophy, Hypomyelinating, 15	yes	yes	yes	no	NA
EPS15	HGNC:3419	MGI:104583	-	-	yes	no	no	no	NA
EPS15L1	HGNC:24634	MGI:104582	ORPHA:2440	Isolated Split Hand-Split Foot Malformation	yes	yes	yes	yes	34.35
EPS8	HGNC:3420	MGI:104684	OMIM:615974|ORPHA:90636	Deafness, Autosomal Recessive 102|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	yes	yes	yes	no	NA
EPS8L1	HGNC:21295	MGI:1914675	-	-	yes	no	no	no	NA
EPS8L2	HGNC:21296	MGI:2138828	OMIM:617637|ORPHA:90636	Deafness, Autosomal Recessive 106|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	yes	yes	yes	yes	25.135
EPS8L3	HGNC:21297	MGI:2139743	OMIM:612841|ORPHA:444	Hypotrichosis 5|Marie Unna Hereditary Hypotrichosis	yes	yes	yes	no	NA
EPSTI1	HGNC:16465	MGI:1915168	-	-	no	no	no	no	NA
EPX	HGNC:3423	MGI:107569	OMIM:261500	Eosinophil Peroxidase Deficiency	yes	yes	yes	yes	33.45
EPYC	HGNC:3053	MGI:107942	-	-	no	no	no	no	NA
EQTN	HGNC:1359	MGI:1915003	-	-	no	no	no	no	NA
ERAL1	HGNC:3424	MGI:1889295	OMIM:617565|ORPHA:642976|ORPHA:642945	Perrault Syndrome 6|Perrault Syndrome Type 2|Perrault Syndrome Type 1	yes	yes	yes	no	NA
ERAP1	HGNC:18173	MGI:1933403	ORPHA:117	Behçet Disease	yes	yes	yes	yes	22.03
ERAS	HGNC:5174	MGI:2665023	-	-	no	no	no	no	NA
ERBB2	HGNC:3430	MGI:95410	OMIM:619465|OMIM:211980|OMIM:613659|OMIM:137800|OMIM:167000|ORPHA:388	Visceral Neuropathy, Familial, 2, Autosomal Recessive|Lung Cancer|Gastric Cancer|Glioma Susceptibility 1|Ovarian Cancer|Hirschsprung Disease	yes	yes	yes	no	NA
ERBB3	HGNC:3431	MGI:95411	OMIM:607598|OMIM:243180|OMIM:133180|ORPHA:388|ORPHA:137776	Lethal Congenital Contracture Syndrome 2|Visceral Neuropathy, Familial, 1, Autosomal Recessive|Erythroleukemia, Familial, Susceptibility To|Hirschsprung Disease|Lethal Congenital Contracture Syndrome Type 2	no	no	no	no	NA
ERBB4	HGNC:3432	MGI:104771	OMIM:615515|ORPHA:803|ORPHA:178469	Amyotrophic Lateral Sclerosis 19|Amyotrophic Lateral Sclerosis|Autosomal Dominant Non-Syndromic Intellectual Disability	no	no	no	no	NA
ERBIN	HGNC:15842	MGI:1890169	-	-	no	no	no	no	NA
ERC1	HGNC:17072	MGI:2151013	ORPHA:146|ORPHA:280325	Differentiated Thyroid Carcinoma|Distal Deletion 12P	yes	yes	no	no	NA
ERC2	HGNC:31922	MGI:1098749	-	-	no	no	no	no	NA
ERCC1	HGNC:3433	MGI:95412	OMIM:610758|ORPHA:1466|ORPHA:90322	Cerebrooculofacioskeletal Syndrome 4|Cofs Syndrome|Cockayne Syndrome Type 2	no	no	no	no	NA
ERCC2	HGNC:3434	MGI:95413	OMIM:610756|OMIM:601675|OMIM:278730|ORPHA:1466|ORPHA:910|ORPHA:220295|ORPHA:33364	Cerebrooculofacioskeletal Syndrome 2|Trichothiodystrophy 1, Photosensitive|Xeroderma Pigmentosum, Complementation Group D|Cofs Syndrome|Xeroderma Pigmentosum|Xeroderma Pigmentosum-Cockayne Syndrome Complex|Trichothiodystrophy	yes	no	yes	no	NA
ERCC3	HGNC:3435	MGI:95414	OMIM:616390|OMIM:610651|ORPHA:910|ORPHA:220295|ORPHA:33364	Trichothiodystrophy 2, Photosensitive|Xeroderma Pigmentosum, Complementation Group B|Xeroderma Pigmentosum|Xeroderma Pigmentosum-Cockayne Syndrome Complex|Trichothiodystrophy	yes	yes	yes	yes	29.96
ERCC4	HGNC:3436	MGI:1354163	OMIM:615272|OMIM:610965|OMIM:278760|ORPHA:84|ORPHA:910|ORPHA:220295|ORPHA:90321	Fanconi Anemia, Complementation Group Q|Xfe Progeroid Syndrome|Xeroderma Pigmentosum, Complementation Group F|Fanconi Anemia|Xeroderma Pigmentosum|Xeroderma Pigmentosum-Cockayne Syndrome Complex|Cockayne Syndrome Type 1	yes	yes	yes	yes	46.685
ERCC5	HGNC:3437	MGI:103582	OMIM:616570|OMIM:278780|ORPHA:1466|ORPHA:910|ORPHA:220295	Cerebrooculofacioskeletal Syndrome 3|Xeroderma Pigmentosum, Complementation Group G|Cofs Syndrome|Xeroderma Pigmentosum|Xeroderma Pigmentosum-Cockayne Syndrome Complex	yes	yes	yes	no	NA
ERCC6	HGNC:3438	MGI:1100494	OMIM:278800|OMIM:211980|OMIM:214150|OMIM:133540|OMIM:616946|OMIM:600630|OMIM:613761|ORPHA:178338|ORPHA:1466|ORPHA:619|ORPHA:90322|ORPHA:90321|ORPHA:90324	De Sanctis-Cacchione Syndrome|Lung Cancer|Cerebrooculofacioskeletal Syndrome 1|Cockayne Syndrome B|Premature Ovarian Failure 11|Uv-Sensitive Syndrome 1|Macular Degeneration, Age-Related, 5|Uv-Sensitive Syndrome|Cofs Syndrome|Non Rare In Europe: Primary Ovarian Failure|Cockayne Syndrome Type 2|Cockayne Syndrome Type 1|Cockayne Syndrome Type 3	no	no	no	no	NA
ERCC6L	HGNC:20794	MGI:2654144	-	-	no	no	no	no	NA
ERCC6L2	HGNC:26922	MGI:1923501	OMIM:615715|ORPHA:319465|ORPHA:401764	Bone Marrow Failure Syndrome 2|Inherited Acute Myeloid Leukemia|Pancytopenia-Developmental Delay Syndrome	yes	no	yes	no	NA
ERCC8	HGNC:3439	MGI:1919241	OMIM:216400|OMIM:614621|ORPHA:178338|ORPHA:90322|ORPHA:90321|ORPHA:90324	Cockayne Syndrome A|Uv-Sensitive Syndrome 2|Uv-Sensitive Syndrome|Cockayne Syndrome Type 2|Cockayne Syndrome Type 1|Cockayne Syndrome Type 3	yes	yes	yes	yes	36.08
EREG	HGNC:3443	MGI:107508	-	-	no	no	no	no	NA
ERF	HGNC:3444	MGI:109637	OMIM:617180|OMIM:600775|ORPHA:207|ORPHA:35093|ORPHA:647681	Chitayat Syndrome|Craniosynostosis 4|Crouzon Syndrome|Non-Syndromic Sagittal Craniosynostosis|Craniosynostosis-Facial Dysmorphism-Chiari-1 Malformation-Developmental And Language Delay Syndrome	yes	yes	yes	yes	28.11
ERFE	HGNC:26727	MGI:3606476	-	-	yes	no	no	no	NA
ERFL	HGNC:53894	MGI:3642958	-	-	no	no	no	no	NA
ERG	HGNC:3446	MGI:95415	ORPHA:319|ORPHA:370334	Skeletal Ewing Sarcoma|Extraskeletal Ewing Sarcoma	yes	yes	yes	no	NA
ERG28	HGNC:1187	MGI:1915571	-	-	no	no	no	no	NA
ERGIC1	HGNC:29205	MGI:1914708	OMIM:208100|ORPHA:1143	Arthrogryposis Multiplex Congenita 2, Neurogenic Type|Neurogenic Arthrogryposis Multiplex Congenita	yes	yes	yes	no	NA
ERGIC2	HGNC:30208	MGI:1914706	-	-	yes	no	no	no	NA
ERGIC3	HGNC:15927	MGI:1913616	-	-	no	no	no	no	NA
ERH	HGNC:3447	MGI:108089	-	-	no	no	no	no	NA
ERI1	HGNC:23994	MGI:1914526	-	-	no	no	no	no	NA
ERI2	HGNC:30541	MGI:1918401	-	-	yes	no	no	no	NA
ERI3	HGNC:17276	MGI:2153887	-	-	yes	no	no	no	NA
ERICH1	HGNC:27234	MGI:3588201	-	-	no	no	no	no	NA
ERICH2	HGNC:44395	MGI:1913998	-	-	yes	no	no	no	NA
ERICH3	HGNC:25346	MGI:1919095	-	-	yes	no	no	no	NA
ERICH4	HGNC:34497	MGI:3646269	-	-	no	no	no	no	NA
ERICH5	HGNC:26823	MGI:2447772	-	-	no	no	no	no	NA
ERICH6	HGNC:28602	MGI:3588212	-	-	no	no	no	no	NA
ERICH6B	HGNC:26523	MGI:1922522	-	-	no	no	no	no	NA
ERLEC1	HGNC:25222	MGI:1914003	-	-	yes	no	no	no	NA
ERLIN1	HGNC:16947	MGI:2387613	OMIM:615681|ORPHA:401785	Spastic Paraplegia 62, Autosomal Recessive|Autosomal Recessive Spastic Paraplegia Type 62	yes	yes	yes	yes	22.595
ERLIN2	HGNC:1356	MGI:2387215	OMIM:620512|OMIM:611225|ORPHA:247604|ORPHA:280384|ORPHA:209951	Spastic Paraplegia 18A, Autosomal Dominant|Spastic Paraplegia 18B, Autosomal Recessive|Juvenile Primary Lateral Sclerosis|Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome|Autosomal Spastic Paraplegia Type 18	yes	yes	yes	no	NA
ERMAP	HGNC:15743	MGI:1349816	OMIM:111620|OMIM:111750	Radin Blood Group Antigen|Blood Group--Scianna System	yes	no	no	no	NA
ERMN	HGNC:29208	MGI:1925017	-	-	yes	no	no	no	NA
ERMP1	HGNC:23703	MGI:106250	-	-	yes	no	no	no	NA
ERN1	HGNC:3449	MGI:1930134	-	-	no	no	no	no	NA
ERN2	HGNC:16942	MGI:1349436	-	-	no	no	no	no	NA
ERO1A	HGNC:13280	MGI:1354385	-	-	no	no	no	no	NA
ERO1B	HGNC:14355	MGI:1914725	-	-	no	no	no	no	NA
ERP27	HGNC:26495	MGI:1916437	-	-	no	no	no	no	NA
ERP29	HGNC:13799	MGI:1914647	-	-	no	no	no	no	NA
ERP44	HGNC:18311	MGI:1923549	-	-	yes	no	no	no	NA
ERRFI1	HGNC:18185	MGI:1921405	-	-	no	no	no	no	NA
ESAM	HGNC:17474	MGI:1916774	OMIM:620371	Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	no	no	no	no	NA
ESCO1	HGNC:24645	MGI:1925055	-	-	yes	no	no	no	NA
ESCO2	HGNC:27230	MGI:1919238	OMIM:216100|OMIM:268300|ORPHA:3103|ORPHA:2319	Juberg-Hayward Syndrome|Roberts-Sc Phocomelia Syndrome|Roberts Syndrome	yes	no	yes	no	NA
ESD	HGNC:3465	MGI:95421	-	-	yes	no	no	no	NA
ESF1	HGNC:15898	MGI:1913830	-	-	no	no	no	no	NA
ESM1	HGNC:3466	MGI:1918940	-	-	no	no	no	no	NA
ESPL1	HGNC:16856	MGI:2146156	-	-	no	no	no	no	NA
ESPN	HGNC:13281	MGI:1861630	OMIM:618632|OMIM:609006|ORPHA:231169|ORPHA:90636	Usher Syndrome, Type 1M|Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement|Usher Syndrome Type 1|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	yes	yes	yes	yes	43.61
ESPNL	HGNC:27937	MGI:2685402	-	-	yes	no	no	no	NA
ESR1	HGNC:3467	MGI:1352467	OMIM:114480|OMIM:615363|OMIM:157300|OMIM:608446|ORPHA:785	Breast Cancer|Estrogen Resistance|Migraine With Or Without Aura, Susceptibility To, 1|Myocardial Infarction, Susceptibility To|Estrogen Resistance Syndrome	no	no	no	no	NA
ESR2	HGNC:3468	MGI:109392	OMIM:618187|ORPHA:99361	Ovarian Dysgenesis 8|Familial Medullary Thyroid Carcinoma	yes	yes	yes	yes	39.425
ESRP1	HGNC:25966	MGI:1917326	OMIM:618013	Deafness, Autosomal Recessive 109	yes	yes	yes	no	NA
ESRP2	HGNC:26152	MGI:1924661	-	-	yes	no	no	no	NA
ESRRA	HGNC:3471	MGI:1346831	-	-	yes	no	no	no	NA
ESRRB	HGNC:3473	MGI:1346832	OMIM:608565|ORPHA:90636	Deafness, Autosomal Recessive 35|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	no	no	no	no	NA
ESRRG	HGNC:3474	MGI:1347056	-	-	no	no	no	no	NA
ESS2	HGNC:16817	MGI:107854	-	-	no	no	no	no	NA
ESX1	HGNC:14865	MGI:1096388	-	-	no	no	no	no	NA
ESYT1	HGNC:29534	MGI:1344426	-	-	yes	no	no	no	NA
ESYT2	HGNC:22211	MGI:1261845	-	-	yes	no	no	no	NA
ESYT3	HGNC:24295	MGI:1098699	-	-	yes	no	no	no	NA
ETAA1	HGNC:24648	MGI:1915395	-	-	yes	no	no	no	NA
ETF1	HGNC:3477	MGI:2385071	-	-	no	no	no	no	NA
ETFA	HGNC:3481	MGI:106092	OMIM:231680|ORPHA:394532|ORPHA:394529	Multiple Acyl-Coa Dehydrogenase Deficiency|Multiple Acyl-Coa Dehydrogenase Deficiency, Mild Type|Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type	yes	yes	yes	yes	21.94
ETFB	HGNC:3482	MGI:106098	OMIM:231680|ORPHA:394532|ORPHA:394529	Multiple Acyl-Coa Dehydrogenase Deficiency|Multiple Acyl-Coa Dehydrogenase Deficiency, Mild Type|Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type	yes	yes	yes	yes	21.535
ETFBKMT	HGNC:28739	MGI:2443575	-	-	yes	no	no	no	NA
ETFDH	HGNC:3483	MGI:106100	OMIM:231680|ORPHA:394532|ORPHA:394529	Multiple Acyl-Coa Dehydrogenase Deficiency|Multiple Acyl-Coa Dehydrogenase Deficiency, Mild Type|Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type	yes	yes	yes	yes	33.205
ETFRF1	HGNC:27052	MGI:1914886	-	-	no	no	no	no	NA
ETHE1	HGNC:23287	MGI:1913321	OMIM:602473|ORPHA:51188	Encephalopathy, Ethylmalonic|Ethylmalonic Encephalopathy	yes	yes	yes	no	NA
ETNK1	HGNC:24649	MGI:1922570	-	-	yes	no	no	no	NA
ETNK2	HGNC:25575	MGI:2443760	-	-	no	no	no	no	NA
ETNPPL	HGNC:14404	MGI:1919010	-	-	no	no	no	no	NA
ETS1	HGNC:3488	MGI:95455	ORPHA:536	Systemic Lupus Erythematosus	no	no	no	no	NA
ETS2	HGNC:3489	MGI:95456	-	-	no	no	no	no	NA
ETV1	HGNC:3490	MGI:99254	ORPHA:319	Skeletal Ewing Sarcoma	no	no	no	no	NA
ETV2	HGNC:3491	MGI:99253	-	-	no	no	no	no	NA
ETV3	HGNC:3492	MGI:1350926	-	-	yes	no	no	no	NA
ETV3L	HGNC:33834	MGI:3646099	-	-	no	no	no	no	NA
ETV4	HGNC:3493	MGI:99423	ORPHA:319	Skeletal Ewing Sarcoma	yes	yes	no	no	NA
ETV5	HGNC:3494	MGI:1096867	-	-	no	no	no	no	NA
ETV6	HGNC:3495	MGI:109336	OMIM:601626|OMIM:616216|ORPHA:2665|ORPHA:146|ORPHA:2030|ORPHA:314950|ORPHA:71290|ORPHA:98823|ORPHA:585929	Leukemia, Acute Myeloid|Thrombocytopenia 5|Congenital Mesoblastic Nephroma|Differentiated Thyroid Carcinoma|Fibrosarcoma|Primary Hypereosinophilic Syndrome|Familial Platelet Disorder With Associated Myeloid Malignancy|Chronic Myelomonocytic Leukemia|B-Lymphoblastic Leukemia/Lymphoma With T(12;21)(P13.2;Q22.1)	yes	yes	yes	yes	50.995
EVA1A	HGNC:25816	MGI:2385247	-	-	yes	no	no	no	NA
EVA1B	HGNC:25558	MGI:1922063	-	-	no	no	no	no	NA
EVA1C	HGNC:13239	MGI:1918217	-	-	no	no	no	no	NA
EVC	HGNC:3497	MGI:1890596	OMIM:193530|OMIM:225500|ORPHA:289|ORPHA:952	Weyers Acrofacial Dysostosis|Ellis-Van Creveld Syndrome|Ellis Van Creveld Syndrome|Acrofacial Dysostosis, Weyers Type	no	no	no	no	NA
EVC2	HGNC:19747	MGI:1915775	OMIM:193530|OMIM:225500|ORPHA:289|ORPHA:952	Weyers Acrofacial Dysostosis|Ellis-Van Creveld Syndrome|Ellis Van Creveld Syndrome|Acrofacial Dysostosis, Weyers Type	yes	yes	yes	yes	45.77
EVI2A	HGNC:3499	MGI:95458	-	-	no	no	no	no	NA
EVI5	HGNC:3501	MGI:104736	-	-	yes	no	no	no	NA
EVI5L	HGNC:30464	MGI:2442167	-	-	no	no	no	no	NA
EVL	HGNC:20234	MGI:1194884	-	-	yes	no	no	no	NA
EVPL	HGNC:3503	MGI:107507	-	-	no	no	no	no	NA
EVX1	HGNC:3506	MGI:95461	-	-	no	no	no	no	NA
EVX2	HGNC:3507	MGI:95462	-	-	no	no	no	no	NA
EWSR1	HGNC:3508	MGI:99960	OMIM:612219|ORPHA:209916|ORPHA:319|ORPHA:370334|ORPHA:83469|ORPHA:97338	Ewing Sarcoma|Extraskeletal Myxoid Chondrosarcoma|Skeletal Ewing Sarcoma|Extraskeletal Ewing Sarcoma|Desmoplastic Small Round Cell Tumor|Melanoma Of Soft Tissue	yes	yes	yes	yes	28.09
EXD1	HGNC:28507	MGI:3045306	-	-	yes	no	no	no	NA
EXD2	HGNC:20217	MGI:1922485	-	-	no	no	no	no	NA
EXO1	HGNC:3511	MGI:1349427	-	-	no	no	no	no	NA
EXO5	HGNC:26115	MGI:1920422	-	-	yes	no	no	no	NA
EXOC1	HGNC:30380	MGI:2445020	-	-	yes	no	no	no	NA
EXOC2	HGNC:24968	MGI:1913732	OMIM:619306	Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	yes	yes	yes	no	NA
EXOC3	HGNC:30378	MGI:2443972	-	-	yes	no	no	no	NA
EXOC3L1	HGNC:27540	MGI:3041195	-	-	yes	no	no	no	NA
EXOC3L2	HGNC:30162	MGI:1921713	-	-	yes	no	no	no	NA
EXOC3L4	HGNC:20120	MGI:1921363	-	-	yes	no	no	no	NA
EXOC4	HGNC:30389	MGI:1096376	-	-	yes	no	no	no	NA
EXOC5	HGNC:10696	MGI:2145645	-	-	no	no	no	no	NA
EXOC6	HGNC:23196	MGI:1351611	-	-	yes	no	no	no	NA
EXOC6B	HGNC:17085	MGI:1923164	OMIM:618395|ORPHA:642085	Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3|Spondyloepimetaphyseal Dysplasia With Joint Laxity, Exoc6B Type	yes	yes	yes	no	NA
EXOC7	HGNC:23214	MGI:1859270	OMIM:619072	Neurodevelopmental Disorder With Seizures And Brain Atrophy	no	no	no	no	NA
EXOC8	HGNC:24659	MGI:2142527	OMIM:619076	Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy	yes	yes	yes	no	NA
EXOG	HGNC:3347	MGI:2143333	-	-	no	no	no	no	NA
EXOSC1	HGNC:17286	MGI:1913833	OMIM:619304	Pontocerebellar Hypoplasia, Type 1F	yes	yes	yes	no	NA
EXOSC10	HGNC:9138	MGI:1355322	-	-	no	no	no	no	NA
EXOSC2	HGNC:17097	MGI:2385133	OMIM:617763|ORPHA:494439	Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies|Retinitis Pigmentosa-Hearing Loss-Premature Aging-Short Stature-Facial Dysmorphism Syndrome	yes	yes	yes	no	NA
EXOSC3	HGNC:17944	MGI:1913612	OMIM:614678|ORPHA:2254	Pontocerebellar Hypoplasia, Type 1B|Pontocerebellar Hypoplasia Type 1	yes	yes	yes	no	NA
EXOSC4	HGNC:18189	MGI:1923576	-	-	no	no	no	no	NA
EXOSC5	HGNC:24662	MGI:107889	OMIM:619576|ORPHA:641361	Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects|Neurodevelopmental Delay-Hypotonia-Cerebellar Ataxia-Cardiac Conduction Defects Syndrome	no	no	no	no	NA
EXOSC6	HGNC:19055	MGI:1919794	-	-	no	no	no	no	NA
EXOSC7	HGNC:28112	MGI:1913696	-	-	yes	no	no	no	NA
EXOSC8	HGNC:17035	MGI:1916889	OMIM:616081|ORPHA:2254	Pontocerebellar Hypoplasia, Type 1C|Pontocerebellar Hypoplasia Type 1	yes	yes	yes	no	NA
EXOSC9	HGNC:9137	MGI:1355319	OMIM:618065|ORPHA:2254	Pontocerebellar Hypoplasia, Type 1D|Pontocerebellar Hypoplasia Type 1	yes	no	yes	no	NA
EXPH5	HGNC:30578	MGI:2443248	OMIM:615028|ORPHA:412189	Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive|Epidermolysis Bullosa Simplex Due To Exophilin 5 Deficiency	yes	yes	yes	no	NA
EXT1	HGNC:3512	MGI:894663	OMIM:215300|OMIM:133700|ORPHA:502|ORPHA:321|ORPHA:55880	Chondrosarcoma|Exostoses, Multiple, Type I|Trichorhinophalangeal Syndrome Type 2|Multiple Osteochondromas	no	no	no	no	NA
EXT2	HGNC:3513	MGI:108050	OMIM:133701|OMIM:616682|ORPHA:321|ORPHA:466926|ORPHA:52022	Exostoses, Multiple, Type Ii|Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome|Multiple Osteochondromas|Seizures-Scoliosis-Macrocephaly Syndrome|Potocki-Shaffer Syndrome	no	no	no	no	NA
EXTL1	HGNC:3515	MGI:1888742	-	-	no	no	no	no	NA
EXTL2	HGNC:3516	MGI:1889574	-	-	no	no	no	no	NA
EXTL3	HGNC:3518	MGI:1860765	OMIM:617425|ORPHA:508533	Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities|Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	yes	yes	yes	yes	39.76
EYA1	HGNC:3519	MGI:109344	OMIM:166780|OMIM:602588|OMIM:113650|ORPHA:107|ORPHA:2792|ORPHA:52429	Otofaciocervical Syndrome 1|Branchiootic Syndrome 1|Branchiootorenal Syndrome 1|Bor Syndrome|Otofaciocervical Syndrome|Branchiootic Syndrome	yes	yes	yes	no	NA
EYA2	HGNC:3520	MGI:109341	-	-	yes	no	no	no	NA
EYA3	HGNC:3521	MGI:109339	-	-	yes	no	no	no	NA
EYA4	HGNC:3522	MGI:1337104	OMIM:605362|OMIM:601316|ORPHA:217622|ORPHA:90635	Cardiomyopathy, Dilated, 1J|Deafness, Autosomal Dominant 10|Sensorineural Deafness With Dilated Cardiomyopathy|Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	yes	yes	yes	no	NA
EZH1	HGNC:3526	MGI:1097695	-	-	yes	no	no	no	NA
EZH2	HGNC:3527	MGI:107940	OMIM:277590|ORPHA:3447	Weaver Syndrome	yes	yes	yes	yes	26.495
EZR	HGNC:12691	MGI:98931	ORPHA:88616	Autosomal Recessive Non-Syndromic Intellectual Disability	yes	yes	no	no	NA
F10	HGNC:3528	MGI:103107	OMIM:227600|ORPHA:328	Factor X Deficiency|Congenital Factor X Deficiency	yes	yes	yes	yes	17.945
F11	HGNC:3529	MGI:99481	OMIM:612416|ORPHA:329	Factor Xi Deficiency|Congenital Factor Xi Deficiency	no	no	no	no	NA
F11R	HGNC:14685	MGI:1321398	-	-	no	no	no	no	NA
F12	HGNC:3530	MGI:1891012	OMIM:610618|OMIM:234000|ORPHA:330|ORPHA:64738|ORPHA:100054|ORPHA:617919	Angioedema, Hereditary, 3|Factor Xii Deficiency|Congenital Factor Xii Deficiency|Non Rare In Europe: Non Rare Thrombophilia|F12-Related Hereditary Angioedema With Normal C1Inh|F12-Associated Cold Autoinflammatory Syndrome	no	no	no	no	NA
F13A1	HGNC:3531	MGI:1921395	OMIM:613225|OMIM:188050|OMIM:608446|ORPHA:331	Factor Xiii, A Subunit, Deficiency Of|Thrombophilia Due To Thrombin Defect|Myocardial Infarction, Susceptibility To|Congenital Factor Xiii Deficiency	yes	no	yes	no	NA
F13B	HGNC:3534	MGI:88379	OMIM:613235|ORPHA:331	Factor Xiii, B Subunit, Deficiency Of|Congenital Factor Xiii Deficiency	no	no	no	no	NA
F2	HGNC:3535	MGI:88380	OMIM:613679|OMIM:188050|OMIM:601367|OMIM:614390|ORPHA:325|ORPHA:329217|ORPHA:64738	Prothrombin Deficiency, Congenital|Thrombophilia Due To Thrombin Defect|Stroke, Ischemic|Pregnancy Loss, Recurrent, Susceptibility To, 2|Congenital Factor Ii Deficiency|Cerebral Sinovenous Thrombosis|Non Rare In Europe: Non Rare Thrombophilia	yes	yes	yes	yes	31.35
F2R	HGNC:3537	MGI:101802	-	-	no	no	no	no	NA
F2RL1	HGNC:3538	MGI:101910	-	-	yes	no	no	no	NA
F2RL2	HGNC:3539	MGI:1298208	-	-	no	no	no	no	NA
F2RL3	HGNC:3540	MGI:1298207	-	-	no	no	no	no	NA
F3	HGNC:3541	MGI:88381	-	-	no	no	no	no	NA
F5	HGNC:3542	MGI:88382	OMIM:227400|OMIM:188055|OMIM:600880|OMIM:601367|OMIM:614389|ORPHA:131|ORPHA:326|ORPHA:329217|ORPHA:391320|ORPHA:64738	Factor V Deficiency|Thrombophilia Due To Activated Protein C Resistance|Budd-Chiari Syndrome|Stroke, Ischemic|Pregnancy Loss, Recurrent, Susceptibility To, 1|Congenital Factor V Deficiency|Cerebral Sinovenous Thrombosis|East Texas Bleeding Disorder|Non Rare In Europe: Non Rare Thrombophilia	no	no	no	no	NA
F7	HGNC:3544	MGI:109325	OMIM:227500|OMIM:608446|ORPHA:327	Factor Vii Deficiency|Myocardial Infarction, Susceptibility To|Congenital Factor Vii Deficiency	yes	yes	yes	no	NA
F8	HGNC:3546	MGI:88383	OMIM:306700|OMIM:301071|ORPHA:169808|ORPHA:169802|ORPHA:169805|ORPHA:177926	Hemophilia A|Thrombophilia, X-Linked, Due To Factor Viii Defect|Mild Hemophilia A|Severe Hemophilia A|Moderate Hemophilia A|Bleeding Disorder In Hemophilia A Carriers	no	no	no	no	NA
F9	HGNC:3551	MGI:88384	OMIM:306900|OMIM:300807|OMIM:301052|ORPHA:169799|ORPHA:169796|ORPHA:169793|ORPHA:177929	Hemophilia B|Thrombophilia, X-Linked, Due To Factor Ix Defect|Warfarin Sensitivity, X-Linked|Mild Hemophilia B|Moderate Hemophilia B|Severe Hemophilia B|Bleeding Disorder In Hemophilia B Carriers	no	no	no	no	NA
FA2H	HGNC:21197	MGI:2443327	OMIM:612319|ORPHA:171629|ORPHA:329308	Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration|Autosomal Recessive Spastic Paraplegia Type 35|Fatty Acid Hydroxylase-Associated Neurodegeneration	yes	yes	yes	yes	30.82
FAAH	HGNC:3553	MGI:109609	OMIM:606581	Polysubstance Abuse, Susceptibility To	yes	yes	no	no	NA
FAAP100	HGNC:26171	MGI:1919135	-	-	no	no	no	no	NA
FAAP20	HGNC:26428	MGI:1914763	-	-	no	no	no	no	NA
FAAP24	HGNC:28467	MGI:2142208	-	-	no	no	no	no	NA
FABP1	HGNC:3555	MGI:95479	-	-	yes	no	no	no	NA
FABP12	HGNC:34524	MGI:1922747	-	-	yes	no	no	no	NA
FABP2	HGNC:3556	MGI:95478	-	-	yes	no	no	no	NA
FABP3	HGNC:3557	MGI:95476	-	-	yes	no	no	no	NA
FABP4	HGNC:3559	MGI:88038	-	-	no	no	no	no	NA
FABP5	HGNC:3560	MGI:101790	-	-	no	no	no	no	NA
FABP6	HGNC:3561	MGI:96565	-	-	no	no	no	no	NA
FABP7	HGNC:3562	MGI:101916	-	-	yes	no	no	no	NA
FABP9	HGNC:3563	MGI:1194881	-	-	no	no	no	no	NA
FADD	HGNC:3573	MGI:109324	OMIM:613759|ORPHA:306550|ORPHA:99806	Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction|Fadd-Related Immunodeficiency|Oculootodental Syndrome	yes	yes	yes	no	NA
FADS1	HGNC:3574	MGI:1923517	-	-	yes	no	no	no	NA
FADS2	HGNC:3575	MGI:1930079	-	-	no	no	no	no	NA
FADS3	HGNC:3576	MGI:1928740	-	-	yes	no	no	no	NA
FADS6	HGNC:30459	MGI:3039592	-	-	yes	no	no	no	NA
FAF1	HGNC:3578	MGI:109419	-	-	yes	no	no	no	NA
FAF2	HGNC:24666	MGI:1923827	-	-	yes	no	no	no	NA
FAH	HGNC:3579	MGI:95482	OMIM:276700|ORPHA:882	Tyrosinemia, Type I|Tyrosinemia Type 1	yes	yes	yes	yes	57.595
FAHD1	HGNC:14169	MGI:1915886	-	-	yes	no	no	no	NA
FAIM	HGNC:18703	MGI:1344387	-	-	no	no	no	no	NA
FAIM2	HGNC:17067	MGI:1919643	-	-	no	no	no	no	NA
FAM107A	HGNC:30827	MGI:3041256	-	-	yes	no	no	no	NA
FAM107B	HGNC:23726	MGI:1913790	-	-	yes	no	no	no	NA
FAM110A	HGNC:16188	MGI:1921097	-	-	no	no	no	no	NA
FAM110B	HGNC:28587	MGI:1916593	-	-	yes	no	no	no	NA
FAM110C	HGNC:33340	MGI:1918813	-	-	no	no	no	no	NA
FAM110D	HGNC:25860	MGI:1919940	-	-	yes	no	no	no	NA
FAM111A	HGNC:24725	MGI:1915508	OMIM:602361|OMIM:127000|ORPHA:2763|ORPHA:93325	Gracile Bone Dysplasia|Kenny-Caffey Syndrome, Type 2|Osteocraniostenosis|Autosomal Dominant Kenny-Caffey Syndrome	no	no	no	no	NA
FAM114A1	HGNC:25087	MGI:1915553	-	-	yes	no	no	no	NA
FAM114A2	HGNC:1333	MGI:1917629	-	-	no	no	no	no	NA
FAM117A	HGNC:24179	MGI:2144564	-	-	yes	no	no	no	NA
FAM117B	HGNC:14440	MGI:1920000	-	-	yes	no	no	no	NA
FAM118A	HGNC:1313	MGI:1920475	-	-	yes	no	no	no	NA
FAM118B	HGNC:26110	MGI:1924483	-	-	no	no	no	no	NA
FAM120A	HGNC:13247	MGI:2446163	-	-	yes	no	no	no	NA
FAM120B	HGNC:21109	MGI:1914794	-	-	yes	no	no	no	NA
FAM120C	HGNC:16949	MGI:2387687	-	-	yes	no	no	no	NA
FAM124A	HGNC:26413	MGI:3645930	-	-	yes	no	no	no	NA
FAM124B	HGNC:26224	MGI:3026880	-	-	yes	no	no	no	NA
FAM131A	HGNC:28308	MGI:1925658	-	-	yes	no	no	no	NA
FAM131B	HGNC:22202	MGI:1923406	-	-	no	no	no	no	NA
FAM131C	HGNC:26717	MGI:2685539	-	-	no	no	no	no	NA
FAM133B	HGNC:28629	MGI:1915402	-	-	no	no	no	no	NA
FAM135A	HGNC:21084	MGI:1915437	-	-	yes	no	no	no	NA
FAM135B	HGNC:28029	MGI:1917613	-	-	yes	no	no	no	NA
FAM136A	HGNC:25911	MGI:1913738	-	-	yes	no	no	no	NA
FAM13A	HGNC:19367	MGI:1889842	ORPHA:2032	Idiopathic Pulmonary Fibrosis	yes	no	yes	no	NA
FAM13B	HGNC:1335	MGI:2447834	-	-	yes	no	no	no	NA
FAM13C	HGNC:19371	MGI:1918971	-	-	no	no	no	no	NA
FAM149A	HGNC:24527	MGI:2387177	-	-	no	no	no	no	NA
FAM149B1	HGNC:29162	MGI:2145567	OMIM:618763|ORPHA:2754	Joubert Syndrome 36|Orofaciodigital Syndrome Type 6	yes	yes	yes	yes	14.565
FAM151A	HGNC:25032	MGI:2657115	-	-	yes	no	no	no	NA
FAM151B	HGNC:33716	MGI:1921192	-	-	yes	no	no	no	NA
FAM156A	HGNC:30114	MGI:1923420	-	-	no	no	no	no	NA
FAM161A	HGNC:25808	MGI:1921123	OMIM:606068|ORPHA:791	Retinitis Pigmentosa 28|Retinitis Pigmentosa	yes	yes	yes	yes	17.68
FAM161B	HGNC:19854	MGI:2443027	-	-	yes	no	no	no	NA
FAM162A	HGNC:17865	MGI:1917436	-	-	yes	no	no	no	NA
FAM162B	HGNC:21549	MGI:1924546	-	-	no	no	no	no	NA
FAM163A	HGNC:28274	MGI:3618859	-	-	yes	no	no	no	NA
FAM163B	HGNC:33277	MGI:1926106	-	-	no	no	no	no	NA
FAM167A	HGNC:15549	MGI:3606565	-	-	yes	no	no	no	NA
FAM167B	HGNC:28133	MGI:2668032	-	-	no	no	no	no	NA
FAM168A	HGNC:28999	MGI:2442372	-	-	yes	no	no	no	NA
FAM168B	HGNC:27016	MGI:2448487	-	-	no	no	no	no	NA
FAM169A	HGNC:29138	MGI:2444268	-	-	no	no	no	no	NA
FAM170A	HGNC:27963	MGI:2684939	-	-	yes	no	no	no	NA
FAM170B	HGNC:19736	MGI:2145650	-	-	no	no	no	no	NA
FAM171A1	HGNC:23522	MGI:2442917	-	-	yes	no	no	no	NA
FAM171A2	HGNC:30480	MGI:2448496	-	-	no	no	no	no	NA
FAM171B	HGNC:29412	MGI:2444579	-	-	no	no	no	no	NA
FAM174A	HGNC:24943	MGI:1914948	-	-	no	no	no	no	NA
FAM174B	HGNC:34339	MGI:3698178	-	-	no	no	no	no	NA
FAM174C	HGNC:26073	MGI:1917020	-	-	no	no	no	no	NA
FAM178B	HGNC:28036	MGI:3026913	-	-	no	no	no	no	NA
FAM180A	HGNC:33773	MGI:3039626	-	-	no	no	no	no	NA
FAM181A	HGNC:20491	MGI:3647570	-	-	no	no	no	no	NA
FAM181B	HGNC:28512	MGI:1930951	-	-	no	no	no	no	NA
FAM184A	HGNC:20991	MGI:1923156	-	-	no	no	no	no	NA
FAM184B	HGNC:29235	MGI:2442958	-	-	yes	no	no	no	NA
FAM185A	HGNC:22412	MGI:2140983	-	-	yes	no	no	no	NA
FAM186A	HGNC:26980	MGI:2685766	-	-	no	no	no	no	NA
FAM186B	HGNC:25296	MGI:3647604	-	-	yes	no	no	no	NA
FAM187A	HGNC:35153	MGI:1914034	-	-	no	no	no	no	NA
FAM187B	HGNC:26366	MGI:1923665	-	-	no	no	no	no	NA
FAM193A	HGNC:16822	MGI:2447768	-	-	yes	no	no	no	NA
FAM193B	HGNC:25524	MGI:2385851	-	-	no	no	no	no	NA
FAM199X	HGNC:25195	MGI:2384304	-	-	yes	no	no	no	NA
FAM204A	HGNC:25794	MGI:1289174	-	-	yes	no	no	no	NA
FAM20A	HGNC:23015	MGI:2388266	OMIM:204690|ORPHA:1031	Amelogenesis Imperfecta, Type Ig|Enamel-Renal Syndrome	yes	yes	yes	yes	46.885
FAM20B	HGNC:23017	MGI:2443990	-	-	no	no	no	no	NA
FAM20C	HGNC:22140	MGI:2136853	OMIM:259775|ORPHA:1832	Raine Syndrome|Lethal Osteosclerotic Bone Dysplasia	yes	yes	yes	yes	21.23
FAM210A	HGNC:28346	MGI:1914000	-	-	yes	no	no	no	NA
FAM210B	HGNC:16102	MGI:1914267	-	-	yes	no	no	no	NA
FAM216A	HGNC:30180	MGI:1916198	-	-	yes	no	no	no	NA
FAM216B	HGNC:26883	MGI:2145738	-	-	yes	no	no	no	NA
FAM217A	HGNC:21362	MGI:1919114	-	-	no	no	no	no	NA
FAM217B	HGNC:16170	MGI:1918782	-	-	yes	no	no	no	NA
FAM219A	HGNC:19920	MGI:1919151	-	-	yes	no	no	no	NA
FAM219B	HGNC:24695	MGI:1925573	-	-	no	no	no	no	NA
FAM220A	HGNC:22422	MGI:1914488	-	-	no	no	no	no	NA
FAM221A	HGNC:27977	MGI:2442161	-	-	yes	no	no	no	NA
FAM221B	HGNC:30762	MGI:2441678	-	-	no	no	no	no	NA
FAM222A	HGNC:25915	MGI:3605543	-	-	yes	no	no	no	NA
FAM222B	HGNC:25563	MGI:2384939	-	-	no	no	no	no	NA
FAM227A	HGNC:44197	MGI:1922979	-	-	no	no	no	no	NA
FAM227B	HGNC:26543	MGI:1923073	-	-	yes	no	no	no	NA
FAM228A	HGNC:34418	MGI:1922105	-	-	no	no	no	no	NA
FAM228B	HGNC:24736	MGI:2442121	-	-	no	no	no	no	NA
FAM229A	HGNC:44652	MGI:1915483	-	-	no	no	no	no	NA
FAM229B	HGNC:33858	MGI:1913587	-	-	no	no	no	no	NA
FAM234A	HGNC:14163	MGI:2146854	-	-	no	no	no	no	NA
FAM234B	HGNC:29288	MGI:1921775	-	-	yes	no	no	no	NA
FAM237A	HGNC:52388	MGI:5622538	-	-	no	no	no	no	NA
FAM237B	HGNC:53217	MGI:3646213	-	-	no	no	no	no	NA
FAM240A	HGNC:52390	MGI:2685436	-	-	no	no	no	no	NA
FAM240B	HGNC:53430	MGI:1916130	-	-	no	no	no	no	NA
FAM241A	HGNC:26813	MGI:1917867	-	-	no	no	no	no	NA
FAM241B	HGNC:23519	MGI:1917144	-	-	no	no	no	no	NA
FAM32A	HGNC:24563	MGI:1915172	-	-	yes	no	no	no	NA
FAM3A	HGNC:13749	MGI:1913544	-	-	no	no	no	no	NA
FAM3B	HGNC:1253	MGI:1270150	-	-	yes	no	no	no	NA
FAM3C	HGNC:18664	MGI:107892	-	-	no	no	no	no	NA
FAM3D	HGNC:18665	MGI:1201784	-	-	no	no	no	no	NA
FAM43A	HGNC:26888	MGI:2676309	-	-	yes	no	no	no	NA
FAM43B	HGNC:31791	MGI:3651622	-	-	no	no	no	no	NA
FAM47E	HGNC:34343	MGI:2686227	-	-	yes	no	no	no	NA
FAM50A	HGNC:18786	MGI:1351626	OMIM:300261|ORPHA:528084	Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type|Non-Specific Syndromic Intellectual Disability	no	no	no	no	NA
FAM50B	HGNC:18789	MGI:1351640	-	-	no	no	no	no	NA
FAM53A	HGNC:31860	MGI:1919225	-	-	yes	no	no	no	NA
FAM53B	HGNC:28968	MGI:1925188	-	-	yes	no	no	no	NA
FAM53C	HGNC:1336	MGI:1913556	-	-	yes	no	no	no	NA
FAM76A	HGNC:28530	MGI:2385211	-	-	no	no	no	no	NA
FAM76B	HGNC:28492	MGI:1920076	-	-	no	no	no	no	NA
FAM78A	HGNC:25465	MGI:2443569	-	-	no	no	no	no	NA
FAM78B	HGNC:13495	MGI:2443050	-	-	no	no	no	no	NA
FAM81A	HGNC:28379	MGI:1924136	-	-	yes	no	no	no	NA
FAM81B	HGNC:26335	MGI:2685122	-	-	yes	no	no	no	NA
FAM83A	HGNC:28210	MGI:2447773	-	-	yes	no	no	no	NA
FAM83B	HGNC:21357	MGI:2685362	-	-	yes	no	no	no	NA
FAM83C	HGNC:16121	MGI:1918655	-	-	no	no	no	no	NA
FAM83D	HGNC:16122	MGI:1919128	-	-	yes	no	no	no	NA
FAM83E	HGNC:25972	MGI:1921063	-	-	no	no	no	no	NA
FAM83F	HGNC:25148	MGI:2146227	-	-	no	no	no	no	NA
FAM83G	HGNC:32554	MGI:1916890	-	-	yes	no	no	no	NA
FAM83H	HGNC:24797	MGI:2145900	OMIM:130900|ORPHA:100032	Amelogenesis Imperfecta, Type Iiia|Hypocalcified Amelogenesis Imperfecta	yes	yes	yes	no	NA
FAM89A	HGNC:25057	MGI:1916877	-	-	no	no	no	no	NA
FAM89B	HGNC:16708	MGI:106595	-	-	no	no	no	no	NA
FAM8A1	HGNC:16372	MGI:2145496	-	-	yes	no	no	no	NA
FAM91A1	HGNC:26306	MGI:1277178	-	-	no	no	no	no	NA
FAM98A	HGNC:24520	MGI:1919972	-	-	no	no	no	no	NA
FAM98B	HGNC:26773	MGI:1915465	-	-	no	no	no	no	NA
FAM98C	HGNC:27119	MGI:1921083	-	-	no	no	no	no	NA
FAN1	HGNC:29170	MGI:3045266	OMIM:614817|ORPHA:144|ORPHA:401996	Interstitial Nephritis, Karyomegalic|Lynch Syndrome|Karyomegalic Interstitial Nephritis	yes	no	yes	no	NA
FANCA	HGNC:3582	MGI:1341823	OMIM:227650|ORPHA:84	Fanconi Anemia, Complementation Group A|Fanconi Anemia	no	no	no	no	NA
FANCB	HGNC:3583	MGI:2448558	OMIM:300514|ORPHA:84|ORPHA:3412	Fanconi Anemia, Complementation Group B|Fanconi Anemia|Vacterl With Hydrocephalus	no	no	no	no	NA
FANCC	HGNC:3584	MGI:95480	OMIM:227645|ORPHA:84	Fanconi Anemia, Complementation Group C|Fanconi Anemia	no	no	no	no	NA
FANCD2	HGNC:3585	MGI:2448480	OMIM:227646|ORPHA:84	Fanconi Anemia, Complementation Group D2|Fanconi Anemia	yes	yes	yes	yes	18.84
FANCD2OS	HGNC:28623	MGI:1918229	-	-	no	no	no	no	NA
FANCE	HGNC:3586	MGI:1920025	OMIM:600901|ORPHA:84	Fanconi Anemia, Complementation Group E|Fanconi Anemia	no	no	no	no	NA
FANCF	HGNC:3587	MGI:3689889	OMIM:603467|ORPHA:84	Fanconi Anemia, Complementation Group F|Fanconi Anemia	yes	yes	yes	yes	31.725
FANCG	HGNC:3588	MGI:1926471	OMIM:614082|ORPHA:84	Fanconi Anemia, Complementation Group G|Fanconi Anemia	no	no	no	no	NA
FANCI	HGNC:25568	MGI:2384790	OMIM:609053|ORPHA:84	Fanconi Anemia, Complementation Group I|Fanconi Anemia	yes	yes	yes	no	NA
FANCL	HGNC:20748	MGI:1914280	OMIM:614083|ORPHA:84	Fanconi Anemia, Complementation Group L|Fanconi Anemia	yes	yes	yes	yes	36.405
FANCM	HGNC:23168	MGI:2442306	OMIM:618096|OMIM:618086|ORPHA:84|ORPHA:399805	Premature Ovarian Failure 15|Spermatogenic Failure 28|Fanconi Anemia|Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	no	no	no	no	NA
FANK1	HGNC:23527	MGI:1914180	-	-	no	no	no	no	NA
FAP	HGNC:3590	MGI:109608	-	-	no	no	no	no	NA
FAR1	HGNC:26222	MGI:1914670	OMIM:619338|OMIM:616154|ORPHA:438178|ORPHA:447753	Cataracts, Spastic Paraparesis, And Speech Delay|Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder|Fatty Acyl-Coa Reductase 1 Deficiency|Autosomal Dominant Spastic Paraplegia Type 9A	yes	yes	yes	no	NA
FAR2	HGNC:25531	MGI:2687035	-	-	yes	no	no	no	NA
FARP1	HGNC:3591	MGI:2446173	-	-	yes	no	no	no	NA
FARP2	HGNC:16460	MGI:2385126	-	-	yes	no	no	no	NA
FARS2	HGNC:21062	MGI:1917205	OMIM:614946|OMIM:617046|ORPHA:319519|ORPHA:466722	Combined Oxidative Phosphorylation Deficiency 14|Spastic Paraplegia 77, Autosomal Recessive|Combined Oxidative Phosphorylation Defect Type 14|Autosomal Recessive Spastic Paraplegia Type 77	yes	yes	yes	yes	15.225
FARSA	HGNC:3592	MGI:1913840	OMIM:619013	Rajab Interstitial Lung Disease With Brain Calcifications 2	yes	yes	yes	yes	28.53
FARSB	HGNC:17800	MGI:1346035	OMIM:613658|ORPHA:178506	Rajab Interstitial Lung Disease With Brain Calcifications 1|Brain Calcification, Rajab Type	no	no	no	no	NA
FAS	HGNC:11920	MGI:95484	OMIM:601859|ORPHA:117|ORPHA:3261|ORPHA:3437	Autoimmune Lymphoproliferative Syndrome|Behçet Disease|Vogt-Koyanagi-Harada Disease	no	no	no	no	NA
FASLG	HGNC:11936	MGI:99255	OMIM:211980|OMIM:601859|ORPHA:3261	Lung Cancer|Autoimmune Lymphoproliferative Syndrome	no	no	no	no	NA
FASN	HGNC:3594	MGI:95485	-	-	no	no	no	no	NA
FASTK	HGNC:24676	MGI:1913837	-	-	yes	no	no	no	NA
FASTKD1	HGNC:26150	MGI:2444596	-	-	no	no	no	no	NA
FASTKD2	HGNC:29160	MGI:1922869	OMIM:618855|ORPHA:166105	Combined Oxidative Phosphorylation Deficiency 44|Fastkd2-Related Infantile Mitochondrial Encephalomyopathy	yes	yes	yes	no	NA
FASTKD3	HGNC:28758	MGI:1916827	-	-	no	no	no	no	NA
FASTKD5	HGNC:25790	MGI:2139469	-	-	yes	no	no	no	NA
FAT1	HGNC:3595	MGI:109168	-	-	no	no	no	no	NA
FAT2	HGNC:3596	MGI:2685369	OMIM:617769|ORPHA:589527	Spinocerebellar Ataxia 45|Spinocerebellar Ataxia Type 45	no	no	no	no	NA
FAT3	HGNC:23112	MGI:2444314	-	-	yes	no	no	no	NA
FAT4	HGNC:23109	MGI:3045256	OMIM:616006|OMIM:615546|ORPHA:2136|ORPHA:314679	Hennekam Lymphangiectasia-Lymphedema Syndrome 2|Van Maldergem Syndrome 2|Hennekam Syndrome|Cerebrofacioarticular Syndrome	no	no	no	no	NA
FATE1	HGNC:24683	MGI:1925155	-	-	no	no	no	no	NA
FAU	HGNC:3597	MGI:102547	-	-	no	no	no	no	NA
FAXC	HGNC:20742	MGI:1923382	-	-	yes	no	no	no	NA
FAXDC2	HGNC:1334	MGI:3651124	-	-	no	no	no	no	NA
FBF1	HGNC:24674	MGI:1922033	-	-	yes	no	no	no	NA
FBH1	HGNC:13620	MGI:1354699	-	-	no	no	no	no	NA
FBL	HGNC:3599	MGI:95486	-	-	no	no	no	no	NA
FBLIM1	HGNC:24686	MGI:1921452	-	-	yes	no	no	no	NA
FBLL1	HGNC:35458	MGI:3034689	-	-	no	no	no	no	NA
FBLN1	HGNC:3600	MGI:95487	OMIM:608180|ORPHA:295197|ORPHA:404451	Synpolydactyly 2|Synpolydactyly Type 2|Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	no	no	no	no	NA
FBLN2	HGNC:3601	MGI:95488	-	-	no	no	no	no	NA
FBLN5	HGNC:3602	MGI:1346091	OMIM:614434|OMIM:619764|OMIM:219100|OMIM:608895|ORPHA:279|ORPHA:280598|ORPHA:90348|ORPHA:90349	Cutis Laxa, Autosomal Dominant 2|Charcot-Marie-Tooth Disease, Demyelinating, Type 1H|Cutis Laxa, Autosomal Recessive, Type Ia|Macular Degeneration, Age-Related, 3|Non Rare In Europe: Age-Related Macular Degeneration|Hereditary Sensorimotor Neuropathy With Hyperelastic Skin|Autosomal Dominant Cutis Laxa|Autosomal Recessive Cutis Laxa Type 1	no	no	no	no	NA
FBLN7	HGNC:26740	MGI:1917620	-	-	yes	no	no	no	NA
FBN1	HGNC:3603	MGI:95489	OMIM:102370|OMIM:129600|OMIM:614185|OMIM:604308|OMIM:616914|OMIM:154700|OMIM:184900|OMIM:608328|ORPHA:1885|ORPHA:969|ORPHA:2084|ORPHA:2462|ORPHA:2623|ORPHA:2833|ORPHA:3449|ORPHA:284963|ORPHA:284979|ORPHA:300382|ORPHA:91387	Acromicric Dysplasia|Ectopia Lentis 1, Isolated, Autosomal Dominant|Geleophysic Dysplasia 2|Mass Syndrome|Marfanoid-Progeroid-Lipodystrophy Syndrome|Marfan Syndrome|Stiff Skin Syndrome|Weill-Marchesani Syndrome 2|Isolated Ectopia Lentis|Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome|Shprintzen-Goldberg Syndrome|Geleophysic Dysplasia|Weill-Marchesani Syndrome|Marfan Syndrome Type 1|Neonatal Marfan Syndrome|Progeroid And Marfanoid Aspect-Lipodystrophy Syndrome|Familial Thoracic Aortic Aneurysm And Aortic Dissection	yes	yes	yes	yes	18.69
FBN2	HGNC:3604	MGI:95490	OMIM:121050|OMIM:616118|ORPHA:115|ORPHA:279	Contractural Arachnodactyly, Congenital|Macular Degeneration, Early-Onset|Congenital Contractural Arachnodactyly|Non Rare In Europe: Age-Related Macular Degeneration	yes	yes	yes	yes	51.66
FBP1	HGNC:3606	MGI:95492	OMIM:229700|ORPHA:348	Fructose-1,6-Bisphosphatase Deficiency	no	no	no	no	NA
FBP2	HGNC:3607	MGI:95491	OMIM:619864	Leukodystrophy, Childhood-Onset, Remitting	yes	yes	yes	no	NA
FBRS	HGNC:20442	MGI:104648	-	-	yes	no	no	no	NA
FBRSL1	HGNC:29308	MGI:1920907	-	-	yes	no	no	no	NA
FBXL12	HGNC:13611	MGI:1354738	-	-	yes	no	no	no	NA
FBXL13	HGNC:21658	MGI:2443416	-	-	yes	no	no	no	NA
FBXL14	HGNC:28624	MGI:2141676	-	-	no	no	no	no	NA
FBXL15	HGNC:28155	MGI:1915681	-	-	yes	no	no	no	NA
FBXL16	HGNC:14150	MGI:2448488	-	-	yes	no	no	no	NA
FBXL17	HGNC:13615	MGI:1354704	-	-	no	no	no	no	NA
FBXL18	HGNC:21874	MGI:2444450	-	-	yes	no	no	no	NA
FBXL19	HGNC:25300	MGI:3039600	-	-	yes	no	no	no	NA
FBXL2	HGNC:13598	MGI:1919429	-	-	yes	no	no	no	NA
FBXL20	HGNC:24679	MGI:1919444	-	-	yes	no	no	no	NA
FBXL21P	HGNC:13600	MGI:2442921	-	-	yes	no	no	no	NA
FBXL22	HGNC:27537	MGI:1921415	-	-	yes	no	no	no	NA
FBXL3	HGNC:13599	MGI:1354702	OMIM:606220	Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	yes	yes	yes	yes	14.265
FBXL4	HGNC:13601	MGI:2140367	OMIM:615471|ORPHA:369897	Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)|Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Variable Craniofacial Anomalies	no	no	no	no	NA
FBXL5	HGNC:13602	MGI:2152883	-	-	yes	no	no	no	NA
FBXL6	HGNC:13603	MGI:1354705	-	-	no	no	no	no	NA
FBXL7	HGNC:13604	MGI:3052506	-	-	yes	no	no	no	NA
FBXL8	HGNC:17875	MGI:1354697	-	-	yes	no	no	no	NA
FBXL9P	HGNC:13605	MGI:2443262	-	-	yes	no	no	no	NA
FBXO10	HGNC:13589	MGI:2686937	-	-	yes	no	no	no	NA
FBXO11	HGNC:13590	MGI:2147134	OMIM:618089	Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	yes	yes	yes	yes	47.09
FBXO15	HGNC:13617	MGI:1354755	-	-	yes	no	no	no	NA
FBXO16	HGNC:13618	MGI:1354706	-	-	yes	no	no	no	NA
FBXO17	HGNC:18754	MGI:1354707	-	-	no	no	no	no	NA
FBXO2	HGNC:13581	MGI:2446216	-	-	yes	no	no	no	NA
FBXO21	HGNC:13592	MGI:1924223	-	-	yes	no	no	no	NA
FBXO22	HGNC:13593	MGI:1926014	-	-	yes	no	no	no	NA
FBXO24	HGNC:13595	MGI:1918426	-	-	yes	no	no	no	NA
FBXO25	HGNC:13596	MGI:1914072	-	-	yes	no	no	no	NA
FBXO27	HGNC:18753	MGI:2685007	-	-	yes	no	no	no	NA
FBXO28	HGNC:29046	MGI:1261890	OMIM:619777|ORPHA:442835	Developmental And Epileptic Encephalopathy 100|Non-Specific Early-Onset Epileptic Encephalopathy	yes	yes	yes	yes	26.64
FBXO3	HGNC:13582	MGI:1929084	-	-	yes	no	no	no	NA
FBXO30	HGNC:15600	MGI:1919115	-	-	yes	no	no	no	NA
FBXO31	HGNC:16510	MGI:1354708	OMIM:615979|ORPHA:88616	Intellectual Developmental Disorder, Autosomal Recessive 45|Autosomal Recessive Non-Syndromic Intellectual Disability	yes	no	yes	no	NA
FBXO32	HGNC:16731	MGI:1914981	-	-	no	no	no	no	NA
FBXO33	HGNC:19833	MGI:1917861	-	-	yes	no	no	no	NA
FBXO34	HGNC:20201	MGI:1926188	-	-	no	no	no	no	NA
FBXO36	HGNC:27020	MGI:1289192	-	-	yes	no	no	no	NA
FBXO38	HGNC:28844	MGI:2444639	OMIM:615575|ORPHA:139525	Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6|Distal Hereditary Motor Neuropathy Type 2	yes	yes	yes	yes	27.785
FBXO39	HGNC:28565	MGI:3505735	-	-	no	no	no	no	NA
FBXO4	HGNC:13583	MGI:2146220	-	-	no	no	no	no	NA
FBXO40	HGNC:29816	MGI:2443753	-	-	no	no	no	no	NA
FBXO41	HGNC:29409	MGI:1261912	-	-	yes	no	no	no	NA
FBXO42	HGNC:29249	MGI:1924992	-	-	yes	no	no	no	NA
FBXO43	HGNC:28521	MGI:1926053	OMIM:619697|OMIM:619696|ORPHA:399805	Oocyte/Zygote/Embryo Maturation Arrest 12|Spermatogenic Failure 64|Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	yes	yes	yes	yes	68.22
FBXO44	HGNC:24847	MGI:1354744	-	-	yes	no	no	no	NA
FBXO45	HGNC:29148	MGI:2447775	-	-	no	no	no	no	NA
FBXO46	HGNC:25069	MGI:2444918	-	-	no	no	no	no	NA
FBXO47	HGNC:31969	MGI:1920223	-	-	yes	no	no	no	NA
FBXO48	HGNC:33857	MGI:2442569	-	-	yes	no	no	no	NA
FBXO5	HGNC:13584	MGI:1914391	-	-	yes	no	no	no	NA
FBXO6	HGNC:13585	MGI:1354743	-	-	no	no	no	no	NA
FBXO7	HGNC:13586	MGI:1917004	OMIM:260300|ORPHA:171695	Parkinson Disease 15, Autosomal Recessive Early-Onset|Parkinsonian-Pyramidal Syndrome	yes	yes	yes	no	NA
FBXO8	HGNC:13587	MGI:1354696	-	-	yes	no	no	no	NA
FBXO9	HGNC:13588	MGI:1918788	-	-	yes	no	no	no	NA
FBXW11	HGNC:13607	MGI:2144023	OMIM:618914|ORPHA:528084	Neurodevelopmental, Jaw, Eye, And Digital Syndrome|Non-Specific Syndromic Intellectual Disability	no	no	no	no	NA
FBXW2	HGNC:13608	MGI:1353435	-	-	yes	no	no	no	NA
FBXW4	HGNC:10847	MGI:1354698	ORPHA:2440	Isolated Split Hand-Split Foot Malformation	yes	no	yes	no	NA
FBXW5	HGNC:13613	MGI:1354731	-	-	no	no	no	no	NA
FBXW7	HGNC:16712	MGI:1354695	OMIM:620012	Developmental Delay, Hypotonia, And Impaired Language	no	no	no	no	NA
FBXW8	HGNC:13597	MGI:1923041	-	-	yes	no	no	no	NA
FBXW9	HGNC:28136	MGI:1915878	-	-	yes	no	no	no	NA
FCAMR	HGNC:24692	MGI:1927803	-	-	no	no	no	no	NA
FCER1A	HGNC:3609	MGI:95494	-	-	no	no	no	no	NA
FCER1G	HGNC:3611	MGI:95496	-	-	yes	no	no	no	NA
FCER2	HGNC:3612	MGI:95497	-	-	no	no	no	no	NA
FCF1	HGNC:20220	MGI:1920986	-	-	no	no	no	no	NA
FCGBP	HGNC:13572	MGI:2444336	-	-	yes	no	no	no	NA
FCGR1A	HGNC:3613	MGI:95498	-	-	no	no	no	no	NA
FCGRT	HGNC:3621	MGI:103017	-	-	no	no	no	no	NA
FCHO1	HGNC:29002	MGI:1921265	OMIM:619164|ORPHA:647804	Immunodeficiency 76|Combined Immunodeficiency Due To Fcho1 Deficiency	no	no	no	no	NA
FCHO2	HGNC:25180	MGI:3505790	-	-	yes	no	no	no	NA
FCHSD1	HGNC:25463	MGI:2441771	-	-	no	no	no	no	NA
FCHSD2	HGNC:29114	MGI:2448475	-	-	yes	no	no	no	NA
FCMR	HGNC:14315	MGI:1916419	-	-	yes	no	no	no	NA
FCRL1	HGNC:18509	MGI:2442862	-	-	no	no	no	no	NA
FCRL5	HGNC:18508	MGI:3053558	-	-	no	no	no	no	NA
FCRL6	HGNC:31910	MGI:3618339	-	-	yes	no	no	no	NA
FCRLA	HGNC:18504	MGI:2138647	-	-	yes	no	no	no	NA
FCRLB	HGNC:26431	MGI:3576487	-	-	no	no	no	no	NA
FCSK	HGNC:29500	MGI:1916071	OMIM:618324	Congenital Disorder Of Glycosylation With Defective Fucosylation 2	yes	no	yes	no	NA
FDFT1	HGNC:3629	MGI:102706	OMIM:618156	Squalene Synthase Deficiency	yes	yes	yes	no	NA
FDPS	HGNC:3631	MGI:104888	OMIM:616631|ORPHA:79152	Porokeratosis 9, Multiple Types|Disseminated Superficial Actinic Porokeratosis	no	no	no	no	NA
FDX1	HGNC:3638	MGI:103224	-	-	yes	no	no	no	NA
FDX2	HGNC:30546	MGI:1915415	OMIM:251900	Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	yes	yes	yes	yes	37.405
FDXACB1	HGNC:25110	MGI:3584513	-	-	yes	no	no	no	NA
FDXR	HGNC:3642	MGI:104724	OMIM:617717|ORPHA:542585|ORPHA:543470	Auditory Neuropathy And Optic Atrophy|Auditory Neuropathy-Optic Atrophy Syndrome|Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	yes	yes	yes	no	NA
FECH	HGNC:3647	MGI:95513	OMIM:177000|ORPHA:79278	Protoporphyria, Erythropoietic, 1|Autosomal Erythropoietic Protoporphyria	no	no	no	no	NA
FEM1B	HGNC:3649	MGI:1335087	-	-	no	no	no	no	NA
FEM1C	HGNC:16933	MGI:2444737	-	-	yes	no	no	no	NA
FEN1	HGNC:3650	MGI:102779	-	-	no	no	no	no	NA
FER	HGNC:3655	MGI:105917	-	-	yes	no	no	no	NA
FER1L5	HGNC:19044	MGI:3616091	-	-	no	no	no	no	NA
FER1L6	HGNC:28065	MGI:3645398	-	-	no	no	no	no	NA
FERD3L	HGNC:16660	MGI:2150010	-	-	no	no	no	no	NA
FERMT1	HGNC:15889	MGI:2443583	OMIM:173650|ORPHA:2908	Kindler Syndrome|Kindler Epidermolysis Bullosa	no	no	no	no	NA
FERMT2	HGNC:15767	MGI:2385001	-	-	yes	no	no	no	NA
FERMT3	HGNC:23151	MGI:2147790	OMIM:612840|ORPHA:99844	Leukocyte Adhesion Deficiency, Type Iii|Leukocyte Adhesion Deficiency Type Iii	yes	yes	yes	yes	28.765
FERRY3	HGNC:1184	MGI:107893	OMIM:618221|ORPHA:88616	Intellectual Developmental Disorder, Autosomal Recessive 66|Autosomal Recessive Non-Syndromic Intellectual Disability	yes	yes	yes	yes	38.71
FES	HGNC:3657	MGI:95514	-	-	yes	no	no	no	NA
FETUB	HGNC:3658	MGI:1890221	-	-	no	no	no	no	NA
FEV	HGNC:18562	MGI:2449712	-	-	no	no	no	no	NA
FEZ1	HGNC:3659	MGI:2670976	-	-	no	no	no	no	NA
FEZ2	HGNC:3660	MGI:2675856	-	-	yes	no	no	no	NA
FEZF1	HGNC:22788	MGI:1920441	OMIM:616030|ORPHA:478	Hypogonadotropic Hypogonadism 22 With Or Without Anosmia|Kallmann Syndrome	no	no	no	no	NA
FEZF2	HGNC:13506	MGI:1859823	-	-	no	no	no	no	NA
FFAR1	HGNC:4498	MGI:2684079	-	-	yes	no	no	no	NA
FFAR2	HGNC:4501	MGI:2441731	-	-	yes	no	no	no	NA
FFAR4	HGNC:19061	MGI:2147577	OMIM:607514	Body Mass Index Quantitative Trait Locus 10	no	no	no	no	NA
FGA	HGNC:3661	MGI:1316726	OMIM:105200|OMIM:202400|OMIM:616004|ORPHA:248408|ORPHA:93562|ORPHA:98881|ORPHA:98880|ORPHA:101041	Amyloidosis, Familial Visceral|Afibrinogenemia, Congenital|Dysfibrinogenemia, Congenital|Familial Hypodysfibrinogenemia|Afib Amyloidosis|Familial Dysfibrinogenemia|Familial Afibrinogenemia|Familial Hypofibrinogenemia	no	no	no	no	NA
FGB	HGNC:3662	MGI:99501	OMIM:202400|OMIM:616004|ORPHA:248408|ORPHA:98881|ORPHA:98880|ORPHA:101041	Afibrinogenemia, Congenital|Dysfibrinogenemia, Congenital|Familial Hypodysfibrinogenemia|Familial Dysfibrinogenemia|Familial Afibrinogenemia|Familial Hypofibrinogenemia	yes	yes	yes	yes	35.025
FGD1	HGNC:3663	MGI:104566	OMIM:305400|ORPHA:915	Aarskog-Scott Syndrome	yes	yes	yes	yes	19.92
FGD2	HGNC:3664	MGI:1347084	-	-	no	no	no	no	NA
FGD3	HGNC:16027	MGI:1353657	-	-	yes	no	no	no	NA
FGD4	HGNC:19125	MGI:2183747	OMIM:609311|ORPHA:99954	Charcot-Marie-Tooth Disease, Type 4H|Charcot-Marie-Tooth Disease Type 4H	yes	yes	yes	no	NA
FGD5	HGNC:19117	MGI:2443369	-	-	yes	no	no	no	NA
FGD6	HGNC:21740	MGI:1261419	-	-	no	no	no	no	NA
FGF1	HGNC:3665	MGI:95515	-	-	no	no	no	no	NA
FGF10	HGNC:3666	MGI:1099809	OMIM:180920|OMIM:620193|ORPHA:2363|ORPHA:86815	Aplasia Of Lacrimal And Salivary Glands|Lacrimoauriculodentodigital Syndrome 3|Lacrimoauriculodentodigital Syndrome	yes	yes	yes	yes	39.595
FGF11	HGNC:3667	MGI:109167	-	-	yes	no	no	no	NA
FGF12	HGNC:3668	MGI:109183	OMIM:617166|ORPHA:442835	Developmental And Epileptic Encephalopathy 47|Non-Specific Early-Onset Epileptic Encephalopathy	yes	yes	yes	yes	27.11
FGF13	HGNC:3670	MGI:109178	OMIM:301058|OMIM:301095|ORPHA:442835	Developmental And Epileptic Encephalopathy 90|Intellectual Developmental Disorder, X-Linked 110|Non-Specific Early-Onset Epileptic Encephalopathy	no	no	no	no	NA
FGF14	HGNC:3671	MGI:109189	OMIM:193003|OMIM:620174|ORPHA:98764	Spinocerebellar Ataxia 27A|Spinocerebellar Ataxia 27B, Late-Onset|Spinocerebellar Ataxia Type 27	yes	yes	yes	no	NA
FGF16	HGNC:3672	MGI:1931627	OMIM:309630|ORPHA:2498	Metacarpal 4-5 Fusion|Syndactyly Type 8	no	no	no	no	NA
FGF17	HGNC:3673	MGI:1202401	OMIM:615270|ORPHA:478|ORPHA:432	Hypogonadotropic Hypogonadism 20 With Or Without Anosmia|Kallmann Syndrome|Normosmic Congenital Hypogonadotropic Hypogonadism	yes	yes	yes	no	NA
FGF18	HGNC:3674	MGI:1277980	-	-	no	no	no	no	NA
FGF19	HGNC:3675	MGI:1096383	-	-	yes	no	no	no	NA
FGF2	HGNC:3676	MGI:95516	-	-	yes	no	no	no	NA
FGF20	HGNC:3677	MGI:1891346	OMIM:615721|ORPHA:1848	Renal Hypodysplasia/Aplasia 2|Renal Agenesis, Bilateral	yes	yes	yes	yes	41.955
FGF21	HGNC:3678	MGI:1861377	-	-	no	no	no	no	NA
FGF22	HGNC:3679	MGI:1914362	-	-	yes	no	no	no	NA
FGF23	HGNC:3680	MGI:1891427	OMIM:193100|OMIM:617993|ORPHA:306661|ORPHA:89937	Hypophosphatemic Rickets, Autosomal Dominant|Tumoral Calcinosis, Hyperphosphatemic, Familial, 2|Familial Hyperphosphatemic Tumoral Calcinosis/Hyperphosphatemic Hyperostosis Syndrome|Autosomal Dominant Hypophosphatemic Rickets	no	no	no	no	NA
FGF3	HGNC:3681	MGI:95517	OMIM:610706|ORPHA:2791|ORPHA:90024|ORPHA:99806	Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia|Otodental Syndrome|Deafness With Labyrinthine Aplasia, Microtia, And Microdontia|Oculootodental Syndrome	yes	yes	yes	no	NA
FGF4	HGNC:3682	MGI:95518	-	-	yes	no	no	no	NA
FGF5	HGNC:3683	MGI:95519	OMIM:190330|ORPHA:411788	Trichomegaly|Familial Isolated Trichomegaly	no	no	no	no	NA
FGF6	HGNC:3684	MGI:95520	-	-	no	no	no	no	NA
FGF7	HGNC:3685	MGI:95521	-	-	yes	no	no	no	NA
FGF8	HGNC:3686	MGI:99604	OMIM:612702|ORPHA:280200|ORPHA:280195|ORPHA:478|ORPHA:220386|ORPHA:432|ORPHA:93926|ORPHA:93924|ORPHA:93925	Hypogonadotropic Hypogonadism 6 With Or Without Anosmia|Microform Holoprosencephaly|Septopreoptic Holoprosencephaly|Kallmann Syndrome|Semilobar Holoprosencephaly|Normosmic Congenital Hypogonadotropic Hypogonadism|Midline Interhemispheric Variant Of Holoprosencephaly|Lobar Holoprosencephaly|Alobar Holoprosencephaly	yes	yes	yes	no	NA
FGF9	HGNC:3687	MGI:104723	OMIM:612961|ORPHA:3237	Multiple Synostoses Syndrome 3|Multiple Synostoses Syndrome	yes	yes	yes	yes	49.44
FGFBP1	HGNC:19695	MGI:1096350	-	-	yes	no	no	no	NA
FGFBP3	HGNC:23428	MGI:1919764	-	-	yes	no	no	no	NA
FGFR1	HGNC:3688	MGI:95522	OMIM:101600|OMIM:613001|OMIM:615465|OMIM:147950|OMIM:123150|OMIM:166250|OMIM:190440|ORPHA:168953|ORPHA:2117|ORPHA:2396|ORPHA:251576|ORPHA:251579|ORPHA:251615|ORPHA:2227|ORPHA:2645|ORPHA:3366|ORPHA:3157|ORPHA:280200|ORPHA:478|ORPHA:220386|ORPHA:314950|ORPHA:432|ORPHA:93258|ORPHA:93924|ORPHA:99798	Pfeiffer Syndrome|Encephalocraniocutaneous Lipomatosis|Hartsfield Syndrome|Hypogonadotropic Hypogonadism 2 With Or Without Anosmia|Jackson-Weiss Syndrome|Osteoglophonic Dysplasia|Trigonocephaly 1|Myeloid/Lymphoid Neoplasm Associated With Fgfr1 Rearrangement|Gliosarcoma|Giant Cell Glioblastoma|Pilomyxoid Astrocytoma|Non Rare In Europe: Hypodontia|Osteoglosphonic Dysplasia|Non-Syndromic Metopic Craniosynostosis|Septo-Optic Dysplasia Spectrum|Microform Holoprosencephaly|Kallmann Syndrome|Semilobar Holoprosencephaly|Primary Hypereosinophilic Syndrome|Normosmic Congenital Hypogonadotropic Hypogonadism|Pfeiffer Syndrome Type 1|Lobar Holoprosencephaly|Oligodontia	yes	yes	yes	yes	36.925
FGFR1OP2	HGNC:23098	MGI:1914779	-	-	yes	no	no	no	NA
FGFR2	HGNC:3689	MGI:95523	OMIM:609579|OMIM:207410|OMIM:101200|OMIM:123790|OMIM:614592|OMIM:101600|OMIM:123500|OMIM:613659|OMIM:123150|OMIM:149730|OMIM:101400|ORPHA:794|ORPHA:207|ORPHA:87|ORPHA:168624|ORPHA:1540|ORPHA:1555|ORPHA:2363|ORPHA:313855|ORPHA:93260|ORPHA:93259|ORPHA:93258|ORPHA:596008	Scaphocephaly, Maxillary Retrusion, And Impaired Intellectual Development|Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis|Apert Syndrome|Beare-Stevenson Cutis Gyrata Syndrome|Bent Bone Dysplasia Syndrome 1|Pfeiffer Syndrome|Crouzon Syndrome|Gastric Cancer|Jackson-Weiss Syndrome|Lacrimoauriculodentodigital Syndrome 1|Saethre-Chotzen Syndrome|Familial Scaphocephaly Syndrome, Mcgillivray Type|Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome|Lacrimoauriculodentodigital Syndrome|Fgfr2-Related Bent Bone Dysplasia|Pfeiffer Syndrome Type 3|Pfeiffer Syndrome Type 2|Pfeiffer Syndrome Type 1|Antley-Bixler Syndrome Without Genital Anomaly Or Disorder Of Steroidogenesis	no	no	no	no	NA
FGFR3	HGNC:3690	MGI:95524	OMIM:100800|OMIM:109800|OMIM:610474|OMIM:603956|OMIM:114500|OMIM:612247|OMIM:162900|OMIM:273300|OMIM:146000|OMIM:620192|OMIM:602849|OMIM:616482|OMIM:187600|OMIM:187601|ORPHA:15|ORPHA:429|ORPHA:794|ORPHA:1860|ORPHA:2363|ORPHA:251576|ORPHA:251579|ORPHA:35099|ORPHA:53271|ORPHA:93262|ORPHA:93274|ORPHA:85164|ORPHA:85165	Achondroplasia|Bladder Cancer|Camptodactyly, Tall Stature, And Hearing Loss Syndrome|Cervical Cancer|Colorectal Cancer|Crouzon Syndrome With Acanthosis Nigricans|Nevus, Epidermal|Testicular Germ Cell Tumor|Hypochondroplasia|Lacrimoauriculodentodigital Syndrome 2|Muenke Syndrome|Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans|Thanatophoric Dysplasia, Type I|Thanatophoric Dysplasia, Type Ii|Saethre-Chotzen Syndrome|Thanatophoric Dysplasia Type 1|Lacrimoauriculodentodigital Syndrome|Gliosarcoma|Giant Cell Glioblastoma|Non-Syndromic Bicoronal Craniosynostosis|Crouzon Syndrome-Acanthosis Nigricans Syndrome|Thanatophoric Dysplasia Type 2|Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome|Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	no	no	no	no	NA
FGFR4	HGNC:3691	MGI:95525	-	-	yes	no	no	no	NA
FGFRL1	HGNC:3693	MGI:2150920	-	-	no	no	no	no	NA
FGG	HGNC:3694	MGI:95526	OMIM:202400|OMIM:616004|ORPHA:248408|ORPHA:98881|ORPHA:98880|ORPHA:101041	Afibrinogenemia, Congenital|Dysfibrinogenemia, Congenital|Familial Hypodysfibrinogenemia|Familial Dysfibrinogenemia|Familial Afibrinogenemia|Familial Hypofibrinogenemia	no	no	no	no	NA
FGGY	HGNC:25610	MGI:1922828	-	-	yes	no	no	no	NA
FGL1	HGNC:3695	MGI:102795	-	-	yes	no	no	no	NA
FGL2	HGNC:3696	MGI:103266	-	-	no	no	no	no	NA
FGR	HGNC:3697	MGI:95527	-	-	no	no	no	no	NA
FH	HGNC:3700	MGI:95530	OMIM:606812|OMIM:150800|ORPHA:24|ORPHA:29072|ORPHA:523	Fumarase Deficiency|Hereditary Leiomyomatosis And Renal Cell Cancer|Fumaric Aciduria|Hereditary Pheochromocytoma-Paraganglioma	no	no	no	no	NA
FHAD1	HGNC:29408	MGI:1920323	-	-	no	no	no	no	NA
FHDC1	HGNC:29363	MGI:2684972	-	-	no	no	no	no	NA
FHIP1A	HGNC:34237	MGI:2444746	-	-	yes	no	no	no	NA
FHIP1B	HGNC:25378	MGI:1921599	-	-	yes	no	no	no	NA
FHIP2A	HGNC:29320	MGI:2147545	-	-	yes	no	no	no	NA
FHIP2B	HGNC:16492	MGI:3036290	-	-	yes	no	no	no	NA
FHIT	HGNC:3701	MGI:1277947	ORPHA:422526	Hereditary Clear Cell Renal Cell Carcinoma	no	no	no	no	NA
FHL1	HGNC:3702	MGI:1298387	OMIM:300280|OMIM:300696|OMIM:300717|OMIM:300718|OMIM:300695|ORPHA:155|ORPHA:178461|ORPHA:431272|ORPHA:97239|ORPHA:98863	Uruguay Faciocardiomusculoskeletal Syndrome|Myopathy, X-Linked, With Postural Muscle Atrophy|Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset|Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset|Scapuloperoneal Myopathy, X-Linked Dominant|Non Rare In Europe: Familial Isolated Hypertrophic Cardiomyopathy|X-Linked Myopathy With Postural Muscle Atrophy|X-Linked Scapuloperoneal Muscular Dystrophy|Reducing Body Myopathy|X-Linked Emery-Dreifuss Muscular Dystrophy	yes	yes	yes	yes	29.785
FHL2	HGNC:3703	MGI:1338762	ORPHA:154	Familial Isolated Dilated Cardiomyopathy	no	no	no	no	NA
FHL3	HGNC:3704	MGI:1341092	-	-	no	no	no	no	NA
FHL5	HGNC:17371	MGI:1913192	-	-	no	no	no	no	NA
FHOD1	HGNC:17905	MGI:2679008	-	-	yes	no	no	no	NA
FHOD3	HGNC:26178	MGI:1925847	OMIM:619402	Cardiomyopathy, Familial Hypertrophic, 28	yes	yes	yes	yes	37
FIBCD1	HGNC:25922	MGI:2138953	-	-	no	no	no	no	NA
FIBIN	HGNC:33747	MGI:1914856	-	-	yes	no	no	no	NA
FIBP	HGNC:3705	MGI:1926233	OMIM:617107|ORPHA:500095	Thauvin-Robinet-Faivre Syndrome|Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	yes	yes	yes	yes	18.6
FICD	HGNC:18416	MGI:1098550	-	-	yes	no	no	no	NA
FIG4	HGNC:16873	MGI:2143585	OMIM:612691|OMIM:612577|OMIM:611228|OMIM:216340|ORPHA:803|ORPHA:139515|ORPHA:3472|ORPHA:208441	Polymicrogyria, Bilateral Temporooccipital|Amyotrophic Lateral Sclerosis 11|Charcot-Marie-Tooth Disease, Type 4J|Yunis-Varon Syndrome|Amyotrophic Lateral Sclerosis|Charcot-Marie-Tooth Disease Type 4J|Bilateral Parasagittal Parieto-Occipital Polymicrogyria	no	no	no	no	NA
FIGLA	HGNC:24669	MGI:1349421	OMIM:612310|ORPHA:619	Premature Ovarian Failure 6|Non Rare In Europe: Primary Ovarian Failure	no	no	no	no	NA
FIGN	HGNC:13285	MGI:1890647	-	-	no	no	no	no	NA
FIGNL1	HGNC:13286	MGI:1890648	-	-	yes	no	no	no	NA
FIGNL2	HGNC:13287	MGI:3646919	-	-	no	no	no	no	NA
FILIP1	HGNC:21015	MGI:1917848	-	-	yes	no	no	no	NA
FILIP1L	HGNC:24589	MGI:1925999	-	-	no	no	no	no	NA
FIP1L1	HGNC:19124	MGI:1914149	ORPHA:168940|ORPHA:314950|ORPHA:520	Chronic Eosinophilic Leukemia|Primary Hypereosinophilic Syndrome|Acute Promyelocytic Leukemia	no	no	no	no	NA
FIRRM	HGNC:25565	MGI:3590554	-	-	yes	no	no	no	NA
FIS1	HGNC:21689	MGI:1913687	-	-	yes	no	no	no	NA
FITM1	HGNC:33714	MGI:1915930	-	-	no	no	no	no	NA
FITM2	HGNC:16135	MGI:2444508	OMIM:618635	Siddiqi Syndrome	yes	yes	yes	no	NA
FIZ1	HGNC:25917	MGI:1344336	-	-	no	no	no	no	NA
FJX1	HGNC:17166	MGI:1341907	-	-	yes	no	no	no	NA
FKBP10	HGNC:18169	MGI:104769	OMIM:259450|OMIM:610968|ORPHA:2771|ORPHA:1149|ORPHA:216812|ORPHA:216820	Bruck Syndrome 1|Osteogenesis Imperfecta, Type Xi|Bruck Syndrome|Kuskokwim Syndrome|Osteogenesis Imperfecta Type 3|Osteogenesis Imperfecta Type 4	yes	yes	yes	yes	38.18
FKBP11	HGNC:18624	MGI:1913370	-	-	yes	no	no	no	NA
FKBP14	HGNC:18625	MGI:2387639	OMIM:614557|ORPHA:300179	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2|Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	no	no	no	no	NA
FKBP15	HGNC:23397	MGI:2444782	-	-	no	no	no	no	NA
FKBP1B	HGNC:3712	MGI:1336205	-	-	yes	no	no	no	NA
FKBP2	HGNC:3718	MGI:95542	-	-	no	no	no	no	NA
FKBP3	HGNC:3719	MGI:1353460	-	-	yes	no	no	no	NA
FKBP4	HGNC:3720	MGI:95543	-	-	yes	no	no	no	NA
FKBP5	HGNC:3721	MGI:104670	OMIM:608516	Major Depressive Disorder	yes	yes	yes	no	NA
FKBP6	HGNC:3722	MGI:2137612	OMIM:620103|ORPHA:904	Spermatogenic Failure 77|Williams Syndrome	yes	yes	yes	yes	23.24
FKBP7	HGNC:3723	MGI:1336879	-	-	yes	no	no	no	NA
FKBP8	HGNC:3724	MGI:1341070	-	-	no	no	no	no	NA
FKBP9	HGNC:3725	MGI:1350921	-	-	no	no	no	no	NA
FKBPL	HGNC:13949	MGI:1932127	-	-	yes	no	no	no	NA
FKRP	HGNC:17997	MGI:2447586	OMIM:613153|OMIM:606612|OMIM:607155|ORPHA:370959|ORPHA:370968|ORPHA:370980|ORPHA:588|ORPHA:899|ORPHA:34515	Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5|Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5|Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5|Congenital Muscular Dystrophy With Cerebellar Involvement|Congenital Muscular Dystrophy With Intellectual Disability|Congenital Muscular Dystrophy Without Intellectual Disability|Muscle-Eye-Brain Disease|Walker-Warburg Syndrome|Fkrp-Related Limb-Girdle Muscular Dystrophy R9	no	no	no	no	NA
FKTN	HGNC:3622	MGI:2179507	OMIM:611615|OMIM:253800|OMIM:613152|OMIM:611588|ORPHA:154|ORPHA:206554|ORPHA:370980|ORPHA:588|ORPHA:899|ORPHA:272	Cardiomyopathy, Dilated, 1X|Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4|Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4|Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4|Familial Isolated Dilated Cardiomyopathy|Fukutin-Related Limb-Girdle Muscular Dystrophy R13|Congenital Muscular Dystrophy Without Intellectual Disability|Muscle-Eye-Brain Disease|Walker-Warburg Syndrome|Congenital Muscular Dystrophy, Fukuyama Type	no	no	no	no	NA
FLACC1	HGNC:14439	MGI:1918359	-	-	yes	no	no	no	NA
FLAD1	HGNC:24671	MGI:2443030	OMIM:255100|ORPHA:394532|ORPHA:394529	Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency|Multiple Acyl-Coa Dehydrogenase Deficiency, Mild Type|Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type	no	no	no	no	NA
FLCN	HGNC:27310	MGI:2442184	OMIM:144700|OMIM:135150|OMIM:114500|OMIM:173600|ORPHA:2903|ORPHA:422526|ORPHA:122	Renal Cell Carcinoma, Nonpapillary|Birt-Hogg-Dube Syndrome 1|Colorectal Cancer|Pneumothorax, Primary Spontaneous|Familial Spontaneous Pneumothorax|Hereditary Clear Cell Renal Cell Carcinoma|Birt-Hogg-Dubé Syndrome	no	no	no	no	NA
FLG2	HGNC:33276	MGI:3645678	OMIM:618084|ORPHA:263548	Peeling Skin Syndrome 6|Peeling Skin Syndrome Type A	no	no	no	no	NA
FLI1	HGNC:3749	MGI:95554	OMIM:617443|ORPHA:2308|ORPHA:248340|ORPHA:851|ORPHA:319|ORPHA:370348|ORPHA:370334	Bleeding Disorder, Platelet-Type, 21|Jacobsen Syndrome|Isolated Delta-Storage Pool Disease|Paris-Trousseau Thrombocytopenia|Skeletal Ewing Sarcoma|Peripheral Primitive Neuroectodermal Tumor|Extraskeletal Ewing Sarcoma	no	no	no	no	NA
FLII	HGNC:3750	MGI:1342286	ORPHA:819	Smith-Magenis Syndrome	yes	yes	yes	yes	20.35
FLNA	HGNC:3754	MGI:95556	OMIM:300321|OMIM:314400|OMIM:300048|OMIM:305620|OMIM:300049|OMIM:309350|OMIM:311300|OMIM:304120|OMIM:300244|ORPHA:2301|ORPHA:323|ORPHA:1826|ORPHA:2484|ORPHA:482606|ORPHA:75497|ORPHA:555877|ORPHA:88630|ORPHA:90652|ORPHA:90650|ORPHA:98892|ORPHA:99811	Fg Syndrome 2|Cardiac Valvular Dysplasia, X-Linked|Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked|Frontometaphyseal Dysplasia 1|Periventricular Nodular Heterotopia 1|Melnick-Needles Syndrome|Otopalatodigital Syndrome, Type I|Otopalatodigital Syndrome, Type Ii|Terminal Osseous Dysplasia|Congenital Short Bowel Syndrome|Non Rare In Europe: Fg Syndrome Phenotypic Spectrum|Frontometaphyseal Dysplasia|X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-To-Disc Ratio Syndrome|X-Linked Ehlers-Danlos Syndrome|Flna-Related X-Linked Myxomatous Valvular Dysplasia|Terminal Osseous Dysplasia-Pigmentary Defects Syndrome|Otopalatodigital Syndrome Type 2|Otopalatodigital Syndrome Type 1|Periventricular Nodular Heterotopia|Neuronal Intestinal Pseudoobstruction	no	no	no	no	NA
FLNB	HGNC:3755	MGI:2446089	OMIM:108720|OMIM:108721|OMIM:112310|OMIM:150250|OMIM:272460|ORPHA:1263|ORPHA:1190|ORPHA:3275|ORPHA:503|ORPHA:56305	Atelosteogenesis, Type I|Atelosteogenesis, Type Iii|Boomerang Dysplasia|Larsen Syndrome|Spondylocarpotarsal Synostosis Syndrome|Atelosteogenesis Type I|Spondylocarpotarsal Synostosis|Atelosteogenesis Type Iii	yes	yes	yes	yes	41.805
FLNC	HGNC:3756	MGI:95557	OMIM:617047|OMIM:614065|OMIM:609524|ORPHA:171445|ORPHA:155|ORPHA:63273|ORPHA:75249	Cardiomyopathy, Familial Hypertrophic, 26|Myopathy, Distal, 4|Myopathy, Myofibrillar, 5|Muscle Filaminopathy|Non Rare In Europe: Familial Isolated Hypertrophic Cardiomyopathy|Distal Myopathy With Posterior Leg And Anterior Hand Involvement|Familial Isolated Restrictive Cardiomyopathy	yes	yes	yes	yes	31.05
FLOT1	HGNC:3757	MGI:1100500	-	-	no	no	no	no	NA
FLOT2	HGNC:3758	MGI:103309	-	-	yes	no	no	no	NA
FLRT1	HGNC:3760	MGI:3026647	ORPHA:320406	Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	no	no	no	no	NA
FLRT2	HGNC:3761	MGI:3603594	-	-	no	no	no	no	NA
FLRT3	HGNC:3762	MGI:1918686	OMIM:615271|ORPHA:478	Hypogonadotropic Hypogonadism 21 With Or Without Anosmia|Kallmann Syndrome	no	no	no	no	NA
FLT1	HGNC:3763	MGI:95558	ORPHA:275555	Preeclampsia	no	no	no	no	NA
FLT3	HGNC:3765	MGI:95559	OMIM:601626|OMIM:613065|ORPHA:98833|ORPHA:98834|ORPHA:98832|ORPHA:98829|ORPHA:589595|ORPHA:589534|ORPHA:585909|ORPHA:102724|ORPHA:99861	Leukemia, Acute Myeloid|Leukemia, Acute Lymphoblastic|Acute Myeloblastic Leukemia Without Maturation|Acute Myeloblastic Leukemia With Maturation|Acute Myeloid Leukemia With Minimal Differentiation|Acute Myeloid Leukemia With Abnormal Bone Marrow Eosinophils Inv(16)(P13Q22) Or T(16;16)(P13;Q22)|Mixed Phenotype Acute Leukemia With T(V;11Q23.3)|Mixed Phenotype Acute Leukemia With T(9;22)(Q34.1;Q11.2)|B-Lymphoblastic Leukemia/Lymphoma With T(9;22)(Q34.1;Q11.2)|Acute Myeloid Leukemia With T(8;21)(Q22;Q22) Translocation|Precursor T-Cell Acute Lymphoblastic Leukemia	yes	yes	yes	yes	23.885
FLT3LG	HGNC:3766	MGI:95560	-	-	no	no	no	no	NA
FLT4	HGNC:3767	MGI:95561	OMIM:618780|OMIM:602089|OMIM:153100|ORPHA:3303|ORPHA:464293|ORPHA:79452	Congenital Heart Defects, Multiple Types, 7|Hemangioma, Capillary Infantile|Lymphatic Malformation 1|Tetralogy Of Fallot|Non Rare In Europe: Infantile Capillary Hemangioma|Milroy Disease	no	no	no	no	NA
FLVCR1	HGNC:24682	MGI:2444881	OMIM:609033|ORPHA:88628	Posterior Column Ataxia With Retinitis Pigmentosa|Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	no	no	no	no	NA
FLVCR2	HGNC:20105	MGI:2384974	OMIM:225790|ORPHA:221126	Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome|Fowler Vasculopathy	yes	yes	yes	no	NA
FLYWCH1	HGNC:25404	MGI:2442638	-	-	yes	no	no	no	NA
FLYWCH2	HGNC:25178	MGI:1924167	-	-	yes	no	no	no	NA
FMC1	HGNC:26946	MGI:1913367	-	-	yes	no	no	no	NA
FMN1	HGNC:3768	MGI:101815	-	-	no	no	no	no	NA
FMN2	HGNC:14074	MGI:1859252	OMIM:616193|ORPHA:88616	Intellectual Developmental Disorder, Autosomal Recessive 47|Autosomal Recessive Non-Syndromic Intellectual Disability	no	no	no	no	NA
FMNL1	HGNC:1212	MGI:1888994	-	-	no	no	no	no	NA
FMNL2	HGNC:18267	MGI:1918659	-	-	yes	no	no	no	NA
FMNL3	HGNC:23698	MGI:109569	-	-	yes	no	no	no	NA
FMO1	HGNC:3769	MGI:1310002	-	-	no	no	no	no	NA
FMO2	HGNC:3770	MGI:1916776	-	-	no	no	no	no	NA
FMO3	HGNC:3771	MGI:1100496	OMIM:602079|ORPHA:468726|ORPHA:35056	Trimethylaminuria|Severe Primary Trimethylaminuria|Non Rare In Europe: Trimethylaminuria	yes	yes	yes	yes	58.525
FMO4	HGNC:3772	MGI:2429497	-	-	no	no	no	no	NA
FMO5	HGNC:3773	MGI:1310004	-	-	yes	no	no	no	NA
FMOD	HGNC:3774	MGI:1328364	-	-	no	no	no	no	NA
FMR1	HGNC:3775	MGI:95564	OMIM:300624|OMIM:300623|OMIM:311360|ORPHA:908|ORPHA:619|ORPHA:261483|ORPHA:449291|ORPHA:93256|ORPHA:642691	Fragile X Syndrome|Fragile X Tremor/Ataxia Syndrome|Premature Ovarian Failure 1|Non Rare In Europe: Primary Ovarian Failure|Xq27.3Q28 Duplication Syndrome|Symptomatic Form Of Fragile X Syndrome In Female Carriers|Fragile X-Associated Tremor/Ataxia Syndrome|Fragile X-Associated Primary Ovarian Insufficiency	no	no	no	no	NA
FMR1NB	HGNC:26372	MGI:2672032	-	-	no	no	no	no	NA
FN1	HGNC:3778	MGI:95566	OMIM:601894|OMIM:184255|ORPHA:93315|ORPHA:84090	Glomerulopathy With Fibronectin Deposits 2|Spondylometaphyseal Dysplasia, Corner Fracture Type|Spondylometaphyseal Dysplasia, 'Corner Fracture' Type|Fibronectin Glomerulopathy	no	no	no	no	NA
FN3K	HGNC:24822	MGI:1926834	-	-	no	no	no	no	NA
FN3KRP	HGNC:25700	MGI:2679256	-	-	no	no	no	no	NA
FNBP1	HGNC:17069	MGI:109606	-	-	yes	no	no	no	NA
FNBP1L	HGNC:20851	MGI:1925642	-	-	yes	no	no	no	NA
FNBP4	HGNC:19752	MGI:1860513	-	-	no	no	no	no	NA
FNDC1	HGNC:21184	MGI:1915905	-	-	no	no	no	no	NA
FNDC10	HGNC:42951	MGI:2444790	-	-	no	no	no	no	NA
FNDC11	HGNC:28764	MGI:3051572	-	-	no	no	no	no	NA
FNDC3A	HGNC:20296	MGI:1196463	-	-	yes	no	no	no	NA
FNDC3B	HGNC:24670	MGI:1919257	-	-	yes	no	no	no	NA
FNDC4	HGNC:20239	MGI:1917195	-	-	yes	no	no	no	NA
FNDC5	HGNC:20240	MGI:1917614	-	-	no	no	no	no	NA
FNDC7	HGNC:26668	MGI:2443535	-	-	yes	no	no	no	NA
FNDC8	HGNC:25286	MGI:1926169	-	-	no	no	no	no	NA
FNDC9	HGNC:33547	MGI:2443410	-	-	yes	no	no	no	NA
FNIP1	HGNC:29418	MGI:2444668	OMIM:619705	Immunodeficiency 93 And Hypertrophic Cardiomyopathy	yes	yes	yes	no	NA
FNIP2	HGNC:29280	MGI:2683054	-	-	yes	no	no	no	NA
FNTA	HGNC:3782	MGI:104683	-	-	yes	no	no	no	NA
FNTB	HGNC:3785	MGI:1861305	-	-	yes	no	no	no	NA
FOCAD	HGNC:23377	MGI:2676921	OMIM:619991	Liver Disease, Severe Congenital	yes	yes	yes	yes	26.03
FOLH1	HGNC:3788	MGI:1858193	-	-	yes	no	no	no	NA
FOLR1	HGNC:3791	MGI:95568	OMIM:613068|ORPHA:217382	Neurodegeneration Due To Cerebral Folate Transport Deficiency|Neurodegenerative Syndrome Due To Cerebral Folate Transport Deficiency	yes	yes	yes	no	NA
FOLR2	HGNC:3793	MGI:95569	-	-	no	no	no	no	NA
FOS	HGNC:3796	MGI:95574	ORPHA:528	Congenital Generalized Lipodystrophy	yes	yes	yes	yes	35.655
FOSB	HGNC:3797	MGI:95575	-	-	yes	no	no	no	NA
FOSL1	HGNC:13718	MGI:107179	-	-	no	no	no	no	NA
FOSL2	HGNC:3798	MGI:102858	-	-	no	no	no	no	NA
FOXA1	HGNC:5021	MGI:1347472	-	-	no	no	no	no	NA
FOXA2	HGNC:5022	MGI:1347476	ORPHA:95494	Combined Pituitary Hormone Deficiencies, Genetic Forms	no	no	no	no	NA
FOXA3	HGNC:5023	MGI:1347477	-	-	no	no	no	no	NA
FOXB1	HGNC:3799	MGI:1927549	-	-	no	no	no	no	NA
FOXB2	HGNC:23315	MGI:1347468	-	-	yes	no	no	no	NA
FOXC1	HGNC:3800	MGI:1347466	OMIM:601631|OMIM:602482|ORPHA:250923|ORPHA:708|ORPHA:782|ORPHA:91483|ORPHA:98978	Anterior Segment Dysgenesis 3|Axenfeld-Rieger Syndrome, Type 3|Isolated Aniridia|Peters Anomaly|Axenfeld-Rieger Syndrome|Rieger Anomaly|Axenfeld Anomaly	no	no	no	no	NA
FOXC2	HGNC:3801	MGI:1347481	OMIM:153400|ORPHA:33001	Lymphedema-Distichiasis Syndrome	no	no	no	no	NA
FOXD1	HGNC:3802	MGI:1347463	-	-	no	no	no	no	NA
FOXD2	HGNC:3803	MGI:1347471	-	-	no	no	no	no	NA
FOXD3	HGNC:3804	MGI:1347473	OMIM:607836|ORPHA:3435	Autoimmune Disease, Susceptibility To, 1|Non Rare In Europe: Vitiligo	no	no	no	no	NA
FOXE1	HGNC:3806	MGI:1353500	OMIM:241850|OMIM:616534|ORPHA:146|ORPHA:1226|ORPHA:319487|ORPHA:95713	Bamforth-Lazarus Syndrome|Thyroid Cancer, Nonmedullary, 4|Differentiated Thyroid Carcinoma|Familial Papillary Or Follicular Thyroid Carcinoma|Athyreosis	no	no	no	no	NA
FOXE3	HGNC:3808	MGI:1353569	OMIM:610256|OMIM:612968|OMIM:617349|ORPHA:708|ORPHA:91387|ORPHA:83461	Anterior Segment Dysgenesis 2|Cataract 34, Multiple Types|Aortic Aneurysm, Familial Thoracic 11, Susceptibility To|Peters Anomaly|Familial Thoracic Aortic Aneurysm And Aortic Dissection|Congenital Primary Aphakia	yes	yes	yes	yes	59.005
FOXF1	HGNC:3809	MGI:1347470	OMIM:265380|ORPHA:210122	Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins|Congenital Alveolar Capillary Dysplasia	no	no	no	no	NA
FOXF2	HGNC:3810	MGI:1347479	-	-	no	no	no	no	NA
FOXG1	HGNC:3811	MGI:1347464	OMIM:613454|ORPHA:261144|ORPHA:261229	Rett Syndrome, Congenital Variant|Foxg1 Syndrome Due To 14Q12 Microdeletion|14Q11.2 Microduplication Syndrome	no	no	no	no	NA
FOXH1	HGNC:3814	MGI:1347465	ORPHA:280200|ORPHA:280195|ORPHA:220386|ORPHA:93926|ORPHA:93924|ORPHA:93925	Microform Holoprosencephaly|Septopreoptic Holoprosencephaly|Semilobar Holoprosencephaly|Midline Interhemispheric Variant Of Holoprosencephaly|Lobar Holoprosencephaly|Alobar Holoprosencephaly	no	no	no	no	NA
FOXI1	HGNC:3815	MGI:1096329	OMIM:600791|ORPHA:705|ORPHA:402041	Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct|Pendred Syndrome|Autosomal Recessive Distal Renal Tubular Acidosis	no	no	no	no	NA
FOXI2	HGNC:32448	MGI:3028075	-	-	yes	no	no	no	NA
FOXI3	HGNC:35123	MGI:3511278	OMIM:620444	Craniofacial Microsomia 2	no	no	no	no	NA
FOXJ1	HGNC:3816	MGI:1347474	OMIM:618699|ORPHA:244	Ciliary Dyskinesia, Primary, 43|Primary Ciliary Dyskinesia	no	no	no	no	NA
FOXJ2	HGNC:24818	MGI:1926805	-	-	no	no	no	no	NA
FOXJ3	HGNC:29178	MGI:2443432	-	-	yes	no	no	no	NA
FOXK1	HGNC:23480	MGI:1347488	-	-	no	no	no	no	NA
FOXK2	HGNC:6036	MGI:1916087	-	-	yes	no	no	no	NA
FOXL1	HGNC:3817	MGI:1347469	OMIM:620576	Otosclerosis 11	no	no	no	no	NA
FOXL2	HGNC:1092	MGI:1349428	OMIM:110100|OMIM:608996|ORPHA:619|ORPHA:572361|ORPHA:572333|ORPHA:572354|ORPHA:99915	Blepharophimosis, Ptosis, And Epicanthus Inversus|Premature Ovarian Failure 3|Non Rare In Europe: Primary Ovarian Failure|Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 2|Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus|Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 1|Maligant Granulosa Cell Tumor Of The Ovary	no	no	no	no	NA
FOXL3	HGNC:54201	MGI:3646467	-	-	no	no	no	no	NA
FOXM1	HGNC:3818	MGI:1347487	-	-	no	no	no	no	NA
FOXN1	HGNC:12765	MGI:102949	OMIM:601705|OMIM:618806|ORPHA:169095	T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy|T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant|Severe Combined Immunodeficiency Due To Foxn1 Deficiency	yes	yes	yes	yes	23.8
FOXN2	HGNC:5281	MGI:1347478	-	-	no	no	no	no	NA
FOXN3	HGNC:1928	MGI:1918625	-	-	yes	no	no	no	NA
FOXN4	HGNC:21399	MGI:2151057	-	-	no	no	no	no	NA
FOXO1	HGNC:3819	MGI:1890077	OMIM:268220|ORPHA:99756	Rhabdomyosarcoma 2|Alveolar Rhabdomyosarcoma	yes	yes	yes	no	NA
FOXO3	HGNC:3821	MGI:1890081	-	-	yes	no	no	no	NA
FOXO4	HGNC:7139	MGI:1891915	-	-	yes	no	no	no	NA
FOXO6	HGNC:24814	MGI:2676586	-	-	no	no	no	no	NA
FOXP1	HGNC:3823	MGI:1914004	OMIM:613670|ORPHA:391372|ORPHA:52417|ORPHA:585877	Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features|Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome|Malt Lymphoma|B-Lymphoblastic Leukemia/Lymphoma With Recurrent Genetic Abnormality	yes	yes	yes	yes	52.655
FOXP2	HGNC:13875	MGI:2148705	OMIM:602081|ORPHA:251061|ORPHA:209908	Speech-Language Disorder 1|7Q31 Microdeletion Syndrome|Isolated Childhood Apraxia Of Speech	yes	yes	yes	no	NA
FOXP3	HGNC:6106	MGI:1891436	OMIM:304790|ORPHA:37042	Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked|Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	no	no	no	no	NA
FOXP4	HGNC:20842	MGI:1921373	-	-	no	no	no	no	NA
FOXQ1	HGNC:20951	MGI:1298228	-	-	no	no	no	no	NA
FOXR1	HGNC:29980	MGI:2685961	-	-	yes	no	no	no	NA
FOXR2	HGNC:30469	MGI:3511682	-	-	no	no	no	no	NA
FOXRED1	HGNC:26927	MGI:2446262	OMIM:618241|ORPHA:2609	Mitochondrial Complex I Deficiency, Nuclear Type 19|Isolated Complex I Deficiency	yes	yes	yes	yes	19.04
FOXRED2	HGNC:26264	MGI:106315	-	-	yes	no	no	no	NA
FOXS1	HGNC:3735	MGI:95546	-	-	no	no	no	no	NA
FPGS	HGNC:3824	MGI:95576	-	-	yes	no	no	no	NA
FPGT	HGNC:3825	MGI:1922790	-	-	no	no	no	no	NA
FPR1	HGNC:3826	MGI:107443	ORPHA:447740	Susceptibility To Localized Juvenile Periodontitis	yes	no	no	no	NA
FRA10AC1	HGNC:1162	MGI:1917817	OMIM:620113	Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	no	no	no	no	NA
FRAS1	HGNC:19185	MGI:2385368	OMIM:219000|ORPHA:2052|ORPHA:93100	Fraser Syndrome 1|Fraser Syndrome|Renal Agenesis, Unilateral	no	no	no	no	NA
FRAT2	HGNC:16048	MGI:2673967	-	-	no	no	no	no	NA
FREM1	HGNC:23399	MGI:2670972	OMIM:608980|OMIM:248450|OMIM:614485|ORPHA:2717|ORPHA:3366|ORPHA:217266|ORPHA:93100	Bifid Nose With Or Without Anorectal And Renal Anomalies|Manitoba Oculotrichoanal Syndrome|Trigonocephaly 2|Oculotrichoanal Syndrome|Non-Syndromic Metopic Craniosynostosis|Bnar Syndrome|Renal Agenesis, Unilateral	no	no	no	no	NA
FREM2	HGNC:25396	MGI:2444465	OMIM:123570|OMIM:617666|ORPHA:2052|ORPHA:93100|ORPHA:98949	Cryptophthalmos, Unilateral Or Bilateral, Isolated|Fraser Syndrome 2|Fraser Syndrome|Renal Agenesis, Unilateral|Complete Cryptophthalmia	no	no	no	no	NA
FREM3	HGNC:25172	MGI:2685641	-	-	yes	no	no	no	NA
FREY1	HGNC:37213	MGI:1916742	-	-	yes	no	no	no	NA
FRG1	HGNC:3954	MGI:893597	ORPHA:269	Facioscapulohumeral Dystrophy	no	no	no	no	NA
FRK	HGNC:3955	MGI:103265	-	-	no	no	no	no	NA
FRMD3	HGNC:24125	MGI:2442466	-	-	yes	no	no	no	NA
FRMD4A	HGNC:25491	MGI:1919850	OMIM:616819|ORPHA:466688	Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia|Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome	yes	yes	yes	no	NA
FRMD4B	HGNC:24886	MGI:2141794	-	-	yes	no	no	no	NA
FRMD5	HGNC:28214	MGI:2442557	OMIM:620094	Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	yes	yes	yes	yes	28.13
FRMD6	HGNC:19839	MGI:2442579	-	-	yes	no	no	no	NA
FRMD7	HGNC:8079	MGI:2686379	OMIM:310700|ORPHA:651	Nystagmus 1, Congenital, X-Linked|Non Rare In Europe: Idiopathic Infantile Nystagmus	yes	no	yes	no	NA
FRMD8	HGNC:25462	MGI:1914707	-	-	no	no	no	no	NA
FRMPD1	HGNC:29159	MGI:2446274	-	-	yes	no	no	no	NA
FRMPD2	HGNC:28572	MGI:2685472	-	-	yes	no	no	no	NA
FRMPD3	HGNC:29382	MGI:3646547	-	-	no	no	no	no	NA
FRMPD4	HGNC:29007	MGI:3042378	OMIM:300983|ORPHA:777	Intellectual Developmental Disorder, X-Linked 104|X-Linked Non-Syndromic Intellectual Disability	yes	no	yes	no	NA
FRRS1	HGNC:27622	MGI:108076	-	-	yes	no	no	no	NA
FRRS1L	HGNC:1362	MGI:2442704	OMIM:616981|ORPHA:725|ORPHA:88616	Developmental And Epileptic Encephalopathy 37|Continuous Spikes And Waves During Sleep|Autosomal Recessive Non-Syndromic Intellectual Disability	yes	yes	yes	yes	44.68
FRS2	HGNC:16971	MGI:1100860	-	-	yes	no	no	no	NA
FRS3	HGNC:16970	MGI:2135965	-	-	no	no	no	no	NA
FRY	HGNC:20367	MGI:2443895	-	-	no	no	no	no	NA
FRYL	HGNC:29127	MGI:1919563	-	-	yes	no	no	no	NA
FRZB	HGNC:3959	MGI:892032	OMIM:165720	Osteoarthritis Susceptibility 1	no	no	no	no	NA
FSBP	HGNC:43653	MGI:5301008	-	-	yes	no	no	no	NA
FSCB	HGNC:20494	MGI:3646964	-	-	yes	no	no	no	NA
FSCN1	HGNC:11148	MGI:1352745	-	-	yes	no	no	no	NA
FSCN2	HGNC:3960	MGI:2443337	OMIM:607921|ORPHA:791	Retinitis Pigmentosa 30|Retinitis Pigmentosa	no	no	no	no	NA
FSCN3	HGNC:3961	MGI:1890386	-	-	no	no	no	no	NA
FSD1	HGNC:13745	MGI:1934858	-	-	no	no	no	no	NA
FSD1L	HGNC:13753	MGI:2442443	-	-	yes	no	no	no	NA
FSD2	HGNC:18024	MGI:2444310	-	-	yes	no	no	no	NA
FSHB	HGNC:3964	MGI:95582	OMIM:229070|ORPHA:52901	Hypogonadotropic Hypogonadism 24 With Or Without Anosmia|Isolated Follicle Stimulating Hormone Deficiency	no	no	no	no	NA
FSHR	HGNC:3969	MGI:95583	OMIM:233300|OMIM:608115|OMIM:276400|ORPHA:243|ORPHA:619|ORPHA:64739	Ovarian Dysgenesis 1|Ovarian Hyperstimulation Syndrome|Twinning, Dizygotic|46,Xx Gonadal Dysgenesis|Non Rare In Europe: Primary Ovarian Failure	yes	yes	yes	yes	45.46
FSIP1	HGNC:21674	MGI:1918563	-	-	yes	no	no	no	NA
FSIP2	HGNC:21675	MGI:2664111	OMIM:618153|ORPHA:276234	Spermatogenic Failure 34|Non-Syndromic Male Infertility Due To Sperm Motility Disorder	no	no	no	no	NA
FST	HGNC:3971	MGI:95586	-	-	no	no	no	no	NA
FSTL1	HGNC:3972	MGI:102793	-	-	yes	no	no	no	NA
FSTL3	HGNC:3973	MGI:1890391	-	-	yes	no	no	no	NA
FSTL4	HGNC:21389	MGI:2443199	-	-	no	no	no	no	NA
FSTL5	HGNC:21386	MGI:2442179	-	-	yes	no	no	no	NA
FTCD	HGNC:3974	MGI:1339962	OMIM:229100|ORPHA:51208	Glutamate Formiminotransferase Deficiency|Formiminoglutamic Aciduria	no	no	no	no	NA
FTH1	HGNC:3976	MGI:95588	OMIM:615517|ORPHA:247790	Hemochromatosis, Type 5|Fth1-Related Iron Overload	yes	yes	yes	no	NA
FTL	HGNC:3999	MGI:95589	OMIM:600886|OMIM:615604|OMIM:606159|ORPHA:163|ORPHA:157846|ORPHA:254704|ORPHA:440731	Hyperferritinemia With Or Without Cataract|L-Ferritin Deficiency|Neurodegeneration With Brain Iron Accumulation 3|Hereditary Hyperferritinemia-Cataract Syndrome|Neuroferritinopathy|Genetic Hyperferritinemia Without Iron Overload	yes	yes	yes	yes	58.1
FTMT	HGNC:17345	MGI:1914884	-	-	no	no	no	no	NA
FTO	HGNC:24678	MGI:1347093	OMIM:612938|OMIM:612460|ORPHA:210144	Growth Retardation, Developmental Delay, And Facial Dysmorphism|Body Mass Index Quantitative Trait Locus 14|Lethal Polymalformative Syndrome, Boissel Type	yes	yes	yes	no	NA
FTSJ1	HGNC:13254	MGI:1859648	OMIM:309549|ORPHA:777	Intellectual Developmental Disorder, X-Linked 9|X-Linked Non-Syndromic Intellectual Disability	yes	yes	yes	yes	34.42
FTSJ3	HGNC:17136	MGI:1860295	-	-	no	no	no	no	NA
FUBP1	HGNC:4004	MGI:1196294	-	-	yes	no	no	no	NA
FUBP3	HGNC:4005	MGI:2443699	-	-	no	no	no	no	NA
FUCA1	HGNC:4006	MGI:95593	OMIM:230000|ORPHA:349	Fucosidosis	yes	yes	yes	yes	27.33
FUCA2	HGNC:4008	MGI:1914098	-	-	no	no	no	no	NA
FUNDC1	HGNC:28746	MGI:1919268	-	-	yes	no	no	no	NA
FUNDC2	HGNC:24925	MGI:1914641	-	-	no	no	no	no	NA
FUOM	HGNC:24733	MGI:1916314	-	-	no	no	no	no	NA
FURIN	HGNC:8568	MGI:97513	-	-	yes	no	no	no	NA
FUS	HGNC:4010	MGI:1353633	OMIM:608030|OMIM:614782|ORPHA:803|ORPHA:862|ORPHA:275872|ORPHA:300605|ORPHA:79105|ORPHA:99967	Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia|Tremor, Hereditary Essential, 4|Amyotrophic Lateral Sclerosis|Non Rare In Europe: Hereditary Essential Tremor|Frontotemporal Dementia With Motor Neuron Disease|Juvenile Amyotrophic Lateral Sclerosis|Myxofibrosarcoma|Myxoid/Round Cell Liposarcoma	yes	yes	yes	yes	30.28
FUT1	HGNC:4012	MGI:109375	OMIM:616754	Bombay Phenotype	yes	yes	no	no	NA
FUT10	HGNC:19234	MGI:2384748	-	-	no	no	no	no	NA
FUT11	HGNC:19233	MGI:1920318	-	-	no	no	no	no	NA
FUT2	HGNC:4013	MGI:109374	OMIM:616754|OMIM:612542	Bombay Phenotype|Vitamin B12 Plasma Level Quantitative Trait Locus 1	yes	no	no	no	NA
FUT4	HGNC:4015	MGI:95594	-	-	yes	no	no	no	NA
FUT7	HGNC:4018	MGI:107692	-	-	no	no	no	no	NA
FUT8	HGNC:4019	MGI:1858901	OMIM:618005	Congenital Disorder Of Glycosylation With Defective Fucosylation 1	yes	no	yes	no	NA
FUT9	HGNC:4020	MGI:1330859	-	-	no	no	no	no	NA
FUZ	HGNC:26219	MGI:1917550	OMIM:182940|ORPHA:3027|ORPHA:620158	Neural Tube Defects, Susceptibility To|Caudal Regression Syndrome|Non-Syndromic Non-Specific Multisutural Craniosynostosis	yes	yes	yes	yes	41.095
FXN	HGNC:3951	MGI:1096879	OMIM:229300|ORPHA:95	Friedreich Ataxia	yes	yes	yes	no	NA
FXR1	HGNC:4023	MGI:104860	OMIM:618822|OMIM:618823	Congenital Myopathy 9A|Congenital Myopathy 9B, Proximal, With Minicore Lesions	no	no	no	no	NA
FXR2	HGNC:4024	MGI:1346074	-	-	yes	no	no	no	NA
FXYD1	HGNC:4025	MGI:1889273	-	-	no	no	no	no	NA
FXYD2	HGNC:4026	MGI:1195260	OMIM:154020|ORPHA:34528	Hypomagnesemia 2, Renal|Autosomal Dominant Primary Hypomagnesemia With Hypocalciuria	no	no	no	no	NA
FXYD3	HGNC:4027	MGI:107497	-	-	yes	no	no	no	NA
FXYD4	HGNC:4028	MGI:1889005	-	-	no	no	no	no	NA
FXYD5	HGNC:4029	MGI:1201785	-	-	no	no	no	no	NA
FXYD6	HGNC:4030	MGI:1890226	-	-	no	no	no	no	NA
FXYD7	HGNC:4034	MGI:1889006	-	-	yes	no	no	no	NA
FYB1	HGNC:4036	MGI:1346327	OMIM:273900|ORPHA:566192	Thrombocytopenia 3|Congenital Autosomal Recessive Small-Platelet Thrombocytopenia	yes	yes	yes	yes	48.285
FYB2	HGNC:27295	MGI:2685466	-	-	no	no	no	no	NA
FYCO1	HGNC:14673	MGI:107277	OMIM:610019|ORPHA:98991|ORPHA:98994	Cataract 18|Early-Onset Nuclear Cataract|Total Early-Onset Cataract	yes	yes	yes	yes	49.46
FYN	HGNC:4037	MGI:95602	-	-	yes	no	no	no	NA
FYTTD1	HGNC:25407	MGI:1917955	-	-	yes	no	no	no	NA
FZD1	HGNC:4038	MGI:1196625	-	-	yes	no	no	no	NA
FZD10	HGNC:4039	MGI:2136761	-	-	no	no	no	no	NA
FZD2	HGNC:4040	MGI:1888513	OMIM:164745|ORPHA:3107|ORPHA:93328	Omodysplasia 2|Autosomal Dominant Robinow Syndrome|Autosomal Dominant Omodysplasia	yes	yes	yes	no	NA
FZD3	HGNC:4041	MGI:108476	-	-	yes	no	no	no	NA
FZD4	HGNC:4042	MGI:108520	OMIM:133780|ORPHA:891|ORPHA:90050|ORPHA:91495	Exudative Vitreoretinopathy 1|Familial Exudative Vitreoretinopathy|Retinopathy Of Prematurity|Persistent Hyperplastic Primary Vitreous	yes	yes	yes	yes	37.89
FZD5	HGNC:4043	MGI:108571	ORPHA:98942|ORPHA:98947|ORPHA:98945|ORPHA:98946|ORPHA:98943|ORPHA:98944	Coloboma Of Choroid And Retina|Coloboma Of Optic Disc|Coloboma Of Macula|Coloboma Of Eyelid|Coloboma Of Eye Lens|Coloboma Of Iris	yes	yes	no	no	NA
FZD6	HGNC:4044	MGI:108474	OMIM:161050|ORPHA:280654	Nail Disorder, Nonsyndromic Congenital, 1|Autosomal Recessive Nail Dysplasia	yes	no	yes	no	NA
FZD7	HGNC:4045	MGI:108570	-	-	no	no	no	no	NA
FZD8	HGNC:4046	MGI:108460	-	-	yes	no	no	no	NA
FZD9	HGNC:4047	MGI:1313278	-	-	no	no	no	no	NA
FZR1	HGNC:24824	MGI:1926790	OMIM:620145|ORPHA:442835	Developmental And Epileptic Encephalopathy 109|Non-Specific Early-Onset Epileptic Encephalopathy	yes	yes	yes	yes	33.59
G0S2	HGNC:30229	MGI:1316737	-	-	no	no	no	no	NA
G2E3	HGNC:20338	MGI:2444298	-	-	yes	no	no	no	NA
G3BP1	HGNC:30292	MGI:1351465	-	-	yes	no	no	no	NA
G3BP2	HGNC:30291	MGI:2442040	-	-	yes	no	no	no	NA
G6PC1	HGNC:4056	MGI:95607	OMIM:232200|ORPHA:79258	Glycogen Storage Disease Ia|Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ia	no	no	no	no	NA
G6PC2	HGNC:28906	MGI:1277193	-	-	no	no	no	no	NA
G6PC3	HGNC:24861	MGI:1915651	OMIM:612541|ORPHA:331176	Neutropenia, Severe Congenital, 4, Autosomal Recessive|Autosomal Recessive Severe Congenital Neutropenia Due To G6Pc3 Deficiency	no	no	no	no	NA
GAA	HGNC:4065	MGI:95609	OMIM:232300|ORPHA:308552|ORPHA:420429	Glycogen Storage Disease Ii|Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset|Glycogen Storage Disease Due To Acid Maltase Deficiency, Late-Onset	no	no	no	no	NA
GAB1	HGNC:4066	MGI:108088	OMIM:605428	Deafness, Autosomal Recessive 26	no	no	no	no	NA
GAB2	HGNC:14458	MGI:1333854	-	-	yes	no	no	no	NA
GAB3	HGNC:17515	MGI:2387324	-	-	no	no	no	no	NA
GABARAP	HGNC:4067	MGI:1861742	-	-	no	no	no	no	NA
GABARAPL1	HGNC:4068	MGI:1914980	-	-	yes	no	no	no	NA
GABARAPL2	HGNC:13291	MGI:1890602	-	-	yes	no	no	no	NA
GABBR1	HGNC:4070	MGI:1860139	OMIM:620502|ORPHA:178469	Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities|Autosomal Dominant Non-Syndromic Intellectual Disability	no	no	no	no	NA
GABBR2	HGNC:4507	MGI:2386030	OMIM:617904|OMIM:617903|OMIM:188890|ORPHA:3095|ORPHA:442835	Developmental And Epileptic Encephalopathy 59|Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills|Tobacco Addiction, Susceptibility To|Atypical Rett Syndrome|Non-Specific Early-Onset Epileptic Encephalopathy	no	no	no	no	NA
GABPA	HGNC:4071	MGI:95610	-	-	yes	no	no	no	NA
GABPB1	HGNC:4074	MGI:95611	-	-	no	no	no	no	NA
GABPB2	HGNC:28441	MGI:95612	-	-	no	no	no	no	NA
GABRA1	HGNC:4075	MGI:95613	OMIM:615744|OMIM:611136|ORPHA:307|ORPHA:64280|ORPHA:33069	Developmental And Epileptic Encephalopathy 19|Epilepsy, Idiopathic Generalized, Susceptibility To, 13|Juvenile Myoclonic Epilepsy|Childhood Absence Epilepsy|Dravet Syndrome	no	no	no	no	NA
GABRA2	HGNC:4076	MGI:95614	OMIM:618557|OMIM:103780|ORPHA:442835	Developmental And Epileptic Encephalopathy 78|Alcohol Dependence|Non-Specific Early-Onset Epileptic Encephalopathy	yes	yes	yes	yes	44.66
GABRA3	HGNC:4077	MGI:95615	OMIM:301091|ORPHA:79102	Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features|Thyrotoxic Periodic Paralysis	no	no	no	no	NA
GABRA4	HGNC:4078	MGI:95616	-	-	no	no	no	no	NA
GABRA5	HGNC:4079	MGI:95617	OMIM:618559|ORPHA:442835	Developmental And Epileptic Encephalopathy 79|Non-Specific Early-Onset Epileptic Encephalopathy	yes	yes	yes	no	NA
GABRA6	HGNC:4080	MGI:95618	-	-	yes	no	no	no	NA
GABRB1	HGNC:4081	MGI:95619	OMIM:617153	Developmental And Epileptic Encephalopathy 45	yes	yes	yes	no	NA
GABRB2	HGNC:4082	MGI:95620	OMIM:617829|ORPHA:442835	Developmental And Epileptic Encephalopathy 92|Non-Specific Early-Onset Epileptic Encephalopathy	no	no	no	no	NA
GABRB3	HGNC:4083	MGI:95621	OMIM:617113|OMIM:612269|ORPHA:106|ORPHA:2382|ORPHA:64280	Developmental And Epileptic Encephalopathy 43|Epilepsy, Childhood Absence, Susceptibility To, 5|Non Rare In Europe: Autism|Lennox-Gastaut Syndrome|Childhood Absence Epilepsy	no	no	no	no	NA
GABRD	HGNC:4084	MGI:95622	OMIM:613060|ORPHA:307|ORPHA:1606|ORPHA:36387	Epilepsy, Idiopathic Generalized, Susceptibility To, 10|Juvenile Myoclonic Epilepsy|1P36 Deletion Syndrome|Generalized Epilepsy With Febrile Seizures-Plus	no	no	no	no	NA
GABRE	HGNC:4085	MGI:1330235	-	-	yes	no	no	no	NA
GABRG1	HGNC:4086	MGI:103156	-	-	no	no	no	no	NA
GABRG2	HGNC:4087	MGI:95623	OMIM:618396|OMIM:607681|ORPHA:1945|ORPHA:442835|ORPHA:64280|ORPHA:36387|ORPHA:33069	Developmental And Epileptic Encephalopathy 74|Febrile Seizures, Familial, 8|Rolandic Epilepsy|Non-Specific Early-Onset Epileptic Encephalopathy|Childhood Absence Epilepsy|Generalized Epilepsy With Febrile Seizures-Plus|Dravet Syndrome	yes	yes	yes	yes	25.525
GABRG3	HGNC:4088	MGI:95624	-	-	yes	no	no	no	NA
GABRP	HGNC:4089	MGI:2387597	-	-	no	no	no	no	NA
GABRQ	HGNC:14454	MGI:1888498	-	-	no	no	no	no	NA
GABRR1	HGNC:4090	MGI:95625	-	-	no	no	no	no	NA
GABRR2	HGNC:4091	MGI:95626	-	-	yes	no	no	no	NA
GABRR3	HGNC:17969	MGI:3588203	-	-	yes	no	no	no	NA
GAD1	HGNC:4092	MGI:95632	OMIM:619124|ORPHA:210141	Developmental And Epileptic Encephalopathy 89|Inherited Congenital Spastic Tetraplegia	no	no	no	no	NA
GAD2	HGNC:4093	MGI:95634	-	-	yes	no	no	no	NA
GADD45A	HGNC:4095	MGI:107799	-	-	no	no	no	no	NA
GADD45B	HGNC:4096	MGI:107776	-	-	no	no	no	no	NA
GADD45G	HGNC:4097	MGI:1346325	-	-	no	no	no	no	NA
GADD45GIP1	HGNC:29996	MGI:1914947	-	-	no	no	no	no	NA
GADL1	HGNC:27949	MGI:1920998	-	-	no	no	no	no	NA
GAK	HGNC:4113	MGI:2442153	-	-	no	no	no	no	NA
GAL	HGNC:4114	MGI:95637	OMIM:616461	Epilepsy, Familial Temporal Lobe, 8	yes	no	yes	no	NA
GAL3ST1	HGNC:24240	MGI:1858277	-	-	yes	no	no	no	NA
GAL3ST3	HGNC:24144	MGI:3617843	-	-	yes	no	no	no	NA
GAL3ST4	HGNC:24145	MGI:1916254	-	-	no	no	no	no	NA
GALC	HGNC:4115	MGI:95636	OMIM:245200|ORPHA:206436|ORPHA:206443|ORPHA:206448	Krabbe Disease|Infantile Krabbe Disease|Late-Infantile/Juvenile Krabbe Disease|Adult Krabbe Disease	yes	no	yes	no	NA
GALE	HGNC:4116	MGI:1921496	OMIM:230350|ORPHA:308487|ORPHA:308473	Galactosemia Iii|Generalized Galactose Epimerase Deficiency|Erythrocyte Galactose Epimerase Deficiency	no	no	no	no	NA
GALK1	HGNC:4118	MGI:95730	OMIM:230200|ORPHA:79237	Galactosemia Ii|Galactokinase Deficiency	no	no	no	no	NA
GALK2	HGNC:4119	MGI:1917226	-	-	yes	no	no	no	NA
GALM	HGNC:24063	MGI:2442420	OMIM:618881|ORPHA:570422	Galactosemia Iv|Galactose Mutarotase Deficiency	no	no	no	no	NA
GALNS	HGNC:4122	MGI:1355303	OMIM:253000|ORPHA:309297	Mucopolysaccharidosis, Type Iva|Mucopolysaccharidosis Type 4A	no	no	no	no	NA
GALNT1	HGNC:4123	MGI:894693	-	-	no	no	no	no	NA
GALNT10	HGNC:19873	MGI:1890480	-	-	no	no	no	no	NA
GALNT11	HGNC:19875	MGI:2444392	-	-	no	no	no	no	NA
GALNT12	HGNC:19877	MGI:2444664	OMIM:608812	Colorectal Cancer, Susceptibility To, 1	yes	yes	no	no	NA
GALNT13	HGNC:23242	MGI:2139447	-	-	yes	no	no	no	NA
GALNT14	HGNC:22946	MGI:1918935	-	-	no	no	no	no	NA
GALNT15	HGNC:21531	MGI:1926004	-	-	no	no	no	no	NA
GALNT16	HGNC:23233	MGI:1917754	-	-	no	no	no	no	NA
GALNT17	HGNC:16347	MGI:2137594	-	-	yes	no	no	no	NA
GALNT18	HGNC:30488	MGI:2446239	-	-	yes	no	no	no	NA
GALNT2	HGNC:4124	MGI:894694	OMIM:618885	Congenital Disorder Of Glycosylation, Type Iit	yes	yes	yes	no	NA
GALNT3	HGNC:4125	MGI:894695	OMIM:211900|ORPHA:306661	Tumoral Calcinosis, Hyperphosphatemic, Familial, 1|Familial Hyperphosphatemic Tumoral Calcinosis/Hyperphosphatemic Hyperostosis Syndrome	no	no	no	no	NA
GALNT5	HGNC:4127	MGI:2179403	-	-	no	no	no	no	NA
GALNT6	HGNC:4128	MGI:1891640	-	-	no	no	no	no	NA
GALNT7	HGNC:4129	MGI:1349449	-	-	no	no	no	no	NA
GALNT9	HGNC:4131	MGI:2677965	-	-	yes	no	no	no	NA
GALNTL5	HGNC:21725	MGI:1915159	-	-	yes	no	no	no	NA
GALNTL6	HGNC:33844	MGI:1913581	-	-	yes	no	no	no	NA
GALP	HGNC:24840	MGI:2663979	-	-	yes	no	no	no	NA
GALR1	HGNC:4132	MGI:1096364	-	-	yes	no	no	no	NA
GALR2	HGNC:4133	MGI:1337018	-	-	yes	no	no	no	NA
GALR3	HGNC:4134	MGI:1329003	-	-	no	no	no	no	NA
GALT	HGNC:4135	MGI:95638	OMIM:230400|ORPHA:79239	Galactosemia I|Classic Galactosemia	yes	yes	yes	yes	27.9
GAMT	HGNC:4136	MGI:1098221	OMIM:612736|ORPHA:382	Cerebral Creatine Deficiency Syndrome 2|Guanidinoacetate Methyltransferase Deficiency	no	no	no	no	NA
GAN	HGNC:4137	MGI:1890619	OMIM:256850|ORPHA:643	Giant Axonal Neuropathy 1, Autosomal Recessive|Giant Axonal Neuropathy	no	no	no	no	NA
GANAB	HGNC:4138	MGI:1097667	OMIM:600666|ORPHA:730	Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease|Autosomal Dominant Polycystic Kidney Disease	no	no	no	no	NA
GANC	HGNC:4139	MGI:1923301	-	-	no	no	no	no	NA
GAP43	HGNC:4140	MGI:95639	-	-	no	no	no	no	NA
GAPDH	HGNC:4141	MGI:95640	-	-	yes	no	no	no	NA
GAPDHS	HGNC:24864	MGI:95653	-	-	no	no	no	no	NA
GAPT	HGNC:26588	MGI:3608341	-	-	no	no	no	no	NA
GAPVD1	HGNC:23375	MGI:1913941	ORPHA:656	Genetic Steroid-Resistant Nephrotic Syndrome	yes	yes	yes	yes	32.905
GAR1	HGNC:14264	MGI:1930948	-	-	yes	no	no	no	NA
GAREM1	HGNC:26136	MGI:2685790	-	-	yes	no	no	no	NA
GAREM2	HGNC:27172	MGI:2685290	-	-	no	no	no	no	NA
GARIN1A	HGNC:27998	MGI:2141439	-	-	yes	no	no	no	NA
GARIN1B	HGNC:30704	MGI:3032524	-	-	yes	no	no	no	NA
GARIN2	HGNC:20101	MGI:1918147	-	-	yes	no	no	no	NA
GARIN3	HGNC:28397	MGI:3650836	-	-	yes	no	no	no	NA
GARIN4	HGNC:26541	MGI:3588202	-	-	yes	no	no	no	NA
GARIN5A	HGNC:25107	MGI:1922788	-	-	no	no	no	no	NA
GARIN5B	HGNC:25278	MGI:3045311	-	-	no	no	no	no	NA
GARNL3	HGNC:25425	MGI:2139309	-	-	yes	no	no	no	NA
GARRE1	HGNC:29016	MGI:1924311	-	-	yes	no	no	no	NA
GARS1	HGNC:4162	MGI:2449057	OMIM:601472|OMIM:600794|OMIM:619042|ORPHA:139536|ORPHA:99938	Charcot-Marie-Tooth Disease, Axonal, Type 2D|Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5|Spinal Muscular Atrophy, Infantile, James Type|Distal Hereditary Motor Neuropathy Type 5|Autosomal Dominant Charcot-Marie-Tooth Disease Type 2D	yes	yes	yes	yes	25.305
GART	HGNC:4163	MGI:95654	-	-	yes	no	no	no	NA
GAS1	HGNC:4165	MGI:95655	ORPHA:280200|ORPHA:280195|ORPHA:220386|ORPHA:93926|ORPHA:93924|ORPHA:93925	Microform Holoprosencephaly|Septopreoptic Holoprosencephaly|Semilobar Holoprosencephaly|Midline Interhemispheric Variant Of Holoprosencephaly|Lobar Holoprosencephaly|Alobar Holoprosencephaly	no	no	no	no	NA
GAS2	HGNC:4167	MGI:95657	-	-	no	no	no	no	NA
GAS2L1	HGNC:16955	MGI:1926176	-	-	yes	no	no	no	NA
GAS2L2	HGNC:24846	MGI:3652048	OMIM:618449|ORPHA:244	Ciliary Dyskinesia, Primary, 41|Primary Ciliary Dyskinesia	yes	yes	yes	yes	48.4
GAS2L3	HGNC:27475	MGI:1918780	-	-	no	no	no	no	NA
GAS6	HGNC:4168	MGI:95660	-	-	yes	no	no	no	NA
GAS7	HGNC:4169	MGI:1202388	-	-	yes	no	no	no	NA
GAS8	HGNC:4166	MGI:1202386	OMIM:616726|ORPHA:244	Ciliary Dyskinesia, Primary, 33|Primary Ciliary Dyskinesia	no	no	no	no	NA
GASK1A	HGNC:24485	MGI:3041196	-	-	no	no	no	no	NA
GASK1B	HGNC:25312	MGI:1915909	-	-	no	no	no	no	NA
GAST	HGNC:4164	MGI:104768	-	-	no	no	no	no	NA
GATA1	HGNC:4170	MGI:95661	OMIM:300835|OMIM:301083|OMIM:159595|OMIM:314050|OMIM:300367|ORPHA:124|ORPHA:231393|ORPHA:363727|ORPHA:420611|ORPHA:67044|ORPHA:79277|ORPHA:86849|ORPHA:99887	Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities|Adenosine Deaminase, Elevated, Hemolytic Anemia Due To|Myeloproliferative Syndrome, Transient|Thrombocytopenia With Beta-Thalassemia, X-Linked|Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia|Diamond-Blackfan Anemia|Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome|X-Linked Dyserythropoietic Anemia With Abnormal Platelets And Neutropenia|Transient Myeloproliferative Syndrome|Thrombocytopenia With Congenital Dyserythropoietic Anemia|Congenital Erythropoietic Porphyria|Acute Basophilic Leukemia|Acute Megakaryoblastic Leukemia In Down Syndrome	no	no	no	no	NA
GATA2	HGNC:4171	MGI:95662	OMIM:601626|OMIM:614038|OMIM:614172|OMIM:614286|ORPHA:3226|ORPHA:228423|ORPHA:319465|ORPHA:98827	Leukemia, Acute Myeloid|Lymphedema, Primary, With Myelodysplasia|Immunodeficiency 21|Myelodysplastic Syndrome|Deafness-Lymphedema-Leukemia Syndrome|Monocytopenia With Susceptibility To Infections|Inherited Acute Myeloid Leukemia|Unclassified Myelodysplastic Syndrome	yes	yes	yes	yes	33.265
GATA3	HGNC:4172	MGI:95663	OMIM:146255|ORPHA:2237|ORPHA:585936	Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome|Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome|B-Lymphoblastic Leukemia/Lymphoma With Hyperdiploidy	no	no	no	no	NA
GATA4	HGNC:4173	MGI:95664	OMIM:615542|OMIM:607941|OMIM:614430|OMIM:187500|OMIM:614429|ORPHA:3303|ORPHA:1480|ORPHA:251071|ORPHA:251510|ORPHA:334|ORPHA:99068|ORPHA:99067|ORPHA:99103|ORPHA:576232	Testicular Anomalies With Or Without Congenital Heart Disease|Atrial Septal Defect 2|Atrioventricular Septal Defect 4|Tetralogy Of Fallot|Ventricular Septal Defect 1|Non Rare In Europe: Ventricular Septal Defect|8P23.1 Microdeletion Syndrome|46,Xy Partial Gonadal Dysgenesis|Familial Atrial Fibrillation|Complete Atrioventricular Septal Defect-Tetralogy Of Fallot|Complete Atrioventricular Septal Defect With Ventricular Hypoplasia|Atrial Septal Defect, Ostium Secundum Type|Partial Atrioventricular Septal Defect With Ventricular Hypoplasia	no	no	no	no	NA
GATA5	HGNC:15802	MGI:109497	OMIM:617912|ORPHA:3303|ORPHA:1480|ORPHA:402075|ORPHA:334	Congenital Heart Defects, Multiple Types, 5|Tetralogy Of Fallot|Non Rare In Europe: Ventricular Septal Defect|Familial Bicuspid Aortic Valve|Familial Atrial Fibrillation	yes	yes	yes	no	NA
GATA6	HGNC:4174	MGI:107516	OMIM:614475|OMIM:614474|OMIM:217095|OMIM:600001|OMIM:187500|ORPHA:2140|ORPHA:3303|ORPHA:2255|ORPHA:334|ORPHA:99067|ORPHA:99103	Atrial Septal Defect 9|Atrioventricular Septal Defect 5|Conotruncal Heart Malformations|Heart Defects, Congenital, And Other Congenital Anomalies|Tetralogy Of Fallot|Congenital Diaphragmatic Hernia|Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome|Familial Atrial Fibrillation|Complete Atrioventricular Septal Defect With Ventricular Hypoplasia|Atrial Septal Defect, Ostium Secundum Type	no	no	no	no	NA
GATAD1	HGNC:29941	MGI:1914460	OMIM:614672|ORPHA:154	Cardiomyopathy, Dilated, 2B|Familial Isolated Dilated Cardiomyopathy	no	no	no	no	NA
GATAD2A	HGNC:29989	MGI:2384585	-	-	no	no	no	no	NA
GATAD2B	HGNC:30778	MGI:2443225	OMIM:615074|ORPHA:363686	Gand Syndrome|Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	yes	yes	yes	no	NA
GATB	HGNC:8849	MGI:2442496	OMIM:618838	Combined Oxidative Phosphorylation Deficiency 41	yes	yes	yes	no	NA
GATC	HGNC:25068	MGI:1923776	OMIM:618839	Combined Oxidative Phosphorylation Deficiency 42	yes	no	yes	no	NA
GATD1	HGNC:26616	MGI:2387178	-	-	yes	no	no	no	NA
GATD3	HGNC:1273	MGI:1351861	-	-	no	no	no	no	NA
GATM	HGNC:4175	MGI:1914342	OMIM:612718|OMIM:134600|ORPHA:3337|ORPHA:35704	Cerebral Creatine Deficiency Syndrome 3|Fanconi Renotubular Syndrome 1|Primary Fanconi Renotubular Syndrome|L-Arginine:Glycine Amidinotransferase Deficiency	yes	yes	yes	yes	42.2
GBA1	HGNC:4177	MGI:95665	OMIM:127750|OMIM:608013|OMIM:230800|OMIM:230900|OMIM:231000|OMIM:231005|OMIM:168600|ORPHA:2072|ORPHA:1648|ORPHA:319705|ORPHA:411602|ORPHA:77261|ORPHA:77260|ORPHA:77259|ORPHA:85212	Dementia, Lewy Body|Gaucher Disease, Perinatal Lethal|Gaucher Disease, Type I|Gaucher Disease, Type Ii|Gaucher Disease, Type Iii|Gaucher Disease, Type Iiic|Parkinson Disease, Late-Onset|Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome|Non Rare In Europe: Dementia With Lewy Body|Non Rare In Europe: Parkinson Disease|Hereditary Late-Onset Parkinson Disease|Gaucher Disease Type 3|Gaucher Disease Type 2|Gaucher Disease Type 1|Fetal Gaucher Disease	yes	yes	yes	yes	38.695
GBA2	HGNC:18986	MGI:2654325	OMIM:614409|ORPHA:320391|ORPHA:352641	Spastic Paraplegia 46, Autosomal Recessive|Autosomal Recessive Spastic Paraplegia Type 46|Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity	yes	no	yes	no	NA
GBE1	HGNC:4180	MGI:1921435	OMIM:232500|OMIM:263570|ORPHA:206583|ORPHA:308698|ORPHA:308712|ORPHA:308670|ORPHA:308684|ORPHA:308655|ORPHA:308638|ORPHA:308621	Glycogen Storage Disease Iv|Polyglucosan Body Neuropathy, Adult Form|Adult Polyglucosan Body Disease|Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form|Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form|Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form|Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic And Myopathic Form|Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form|Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form|Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form	yes	yes	yes	no	NA
GBF1	HGNC:4181	MGI:1861607	OMIM:606483	Charcot-Marie-Tooth Disease, Axonal, Type 2Gg	yes	yes	yes	no	NA
GBGT1	HGNC:20460	MGI:2449143	-	-	yes	no	no	no	NA
GBP5	HGNC:19895	MGI:2429943	-	-	yes	no	no	no	NA
GBX1	HGNC:4185	MGI:95667	-	-	yes	no	no	no	NA
GBX2	HGNC:4186	MGI:95668	-	-	no	no	no	no	NA
GC	HGNC:4187	MGI:95669	-	-	yes	no	no	no	NA
GCA	HGNC:15990	MGI:1918521	-	-	no	no	no	no	NA
GCAT	HGNC:4188	MGI:1349389	-	-	no	no	no	no	NA
GCC1	HGNC:19095	MGI:1921625	-	-	no	no	no	no	NA
GCC2	HGNC:23218	MGI:1917547	-	-	no	no	no	no	NA
GCDH	HGNC:4189	MGI:104541	OMIM:231670|ORPHA:25	Glutaric Acidemia I|Glutaryl-Coa Dehydrogenase Deficiency	yes	yes	yes	no	NA
GCFC2	HGNC:1317	MGI:2141656	-	-	no	no	no	no	NA
GCG	HGNC:4191	MGI:95674	-	-	yes	no	no	no	NA
GCGR	HGNC:4192	MGI:99572	OMIM:619290|ORPHA:438274	Mahvash Disease|Gcgr-Related Hyperglucagonemia	yes	yes	yes	yes	40.135
GCH1	HGNC:4193	MGI:95675	OMIM:128230|OMIM:233910|ORPHA:2102|ORPHA:98808	Dystonia, Dopa-Responsive|Hyperphenylalaninemia, Bh4-Deficient, B|Gtp Cyclohydrolase I Deficiency|Autosomal Dominant Dopa-Responsive Dystonia	yes	yes	yes	no	NA
GCHFR	HGNC:4194	MGI:2443977	-	-	no	no	no	no	NA
GCK	HGNC:4195	MGI:1270854	OMIM:125853|OMIM:606176|OMIM:602485|OMIM:125851|ORPHA:552|ORPHA:79299|ORPHA:99885	Type 2 Diabetes Mellitus|Diabetes Mellitus, Permanent Neonatal, 1|Hyperinsulinemic Hypoglycemia, Familial, 3|Maturity-Onset Diabetes Of The Young, Type 2|Mody|Congenital Glucokinase-Related Hyperinsulinism|Isolated Permanent Neonatal Diabetes Mellitus	yes	yes	yes	yes	76.27
GCKR	HGNC:4196	MGI:1096345	OMIM:613463	Fasting Plasma Glucose Level Quantitative Trait Locus 5	yes	yes	no	no	NA
GCLC	HGNC:4311	MGI:104990	OMIM:230450|OMIM:608446|ORPHA:586|ORPHA:33574	Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To|Myocardial Infarction, Susceptibility To|Cystic Fibrosis|Glutamate-Cysteine Ligase Deficiency	yes	yes	yes	no	NA
GCLM	HGNC:4312	MGI:104995	OMIM:608446	Myocardial Infarction, Susceptibility To	no	no	no	no	NA
GCM1	HGNC:4197	MGI:108045	-	-	no	no	no	no	NA
GCM2	HGNC:4198	MGI:1861438	OMIM:617343|OMIM:618883|ORPHA:2239|ORPHA:99879	Hyperparathyroidism 4|Hypoparathyroidism, Familial Isolated, 2|Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland|Familial Isolated Hyperparathyroidism	no	no	no	no	NA
GCN1	HGNC:4199	MGI:2444248	-	-	yes	no	no	no	NA
GCNT1	HGNC:4203	MGI:95676	-	-	no	no	no	no	NA
GCNT2	HGNC:4204	MGI:1100870	OMIM:110800|OMIM:116700|ORPHA:98994	Blood Group, I System|Cataract 13 With Adult I Phenotype|Total Early-Onset Cataract	no	no	no	no	NA
GCNT3	HGNC:4205	MGI:1919327	-	-	yes	no	no	no	NA
GCNT4	HGNC:17973	MGI:2684919	-	-	no	no	no	no	NA
GCNT7	HGNC:16099	MGI:3606143	-	-	no	no	no	no	NA
GCSAM	HGNC:20253	MGI:102969	-	-	no	no	no	no	NA
GCSH	HGNC:4208	MGI:1915383	OMIM:620423|ORPHA:289863|ORPHA:289857|ORPHA:289860	Multiple Mitochondrial Dysfunctions Syndrome 7|Atypical Glycine Encephalopathy|Neonatal Glycine Encephalopathy|Infantile Glycine Encephalopathy	yes	yes	no	no	NA
GDA	HGNC:4212	MGI:95678	-	-	yes	no	no	no	NA
GDAP1	HGNC:15968	MGI:1338002	OMIM:607831|OMIM:607706|OMIM:608340|OMIM:214400|ORPHA:217055|ORPHA:101102|ORPHA:101097|ORPHA:99948|ORPHA:99944	Charcot-Marie-Tooth Disease, Axonal, Type 2K|Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive|Charcot-Marie-Tooth Disease, Recessive Intermediate A|Charcot-Marie-Tooth Disease, Type 4A|Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type A|Charcot-Marie-Tooth Disease Type 2H|Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness|Charcot-Marie-Tooth Disease Type 4A|Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	yes	yes	yes	no	NA
GDAP1L1	HGNC:4213	MGI:2385163	-	-	no	no	no	no	NA
GDAP2	HGNC:18010	MGI:1338001	OMIM:618369	Spinocerebellar Ataxia, Autosomal Recessive 27	yes	yes	yes	yes	23.21
GDE1	HGNC:29644	MGI:1891827	-	-	yes	no	no	no	NA
GDF1	HGNC:4214	MGI:95683	OMIM:613854|OMIM:208530|ORPHA:3303|ORPHA:216718|ORPHA:97548	Congenital Heart Defects, Multiple Types, 6|Right Atrial Isomerism|Tetralogy Of Fallot|Isolated Congenitally Uncorrected Transposition Of The Great Arteries|Right Sided Atrial Isomerism	no	no	no	no	NA
GDF10	HGNC:4215	MGI:95684	-	-	yes	no	no	no	NA
GDF11	HGNC:4216	MGI:1338027	OMIM:619122	Vertebral Hypersegmentation And Orofacial Anomalies	yes	yes	yes	yes	39.915
GDF15	HGNC:30142	MGI:1346047	-	-	yes	no	no	no	NA
GDF2	HGNC:4217	MGI:1321394	OMIM:615506|ORPHA:774	Telangiectasia, Hereditary Hemorrhagic, Type 5|Hereditary Hemorrhagic Telangiectasia	yes	yes	yes	yes	26.91
GDF3	HGNC:4218	MGI:95686	OMIM:613702|OMIM:613703|OMIM:613704|ORPHA:2345|ORPHA:98938	Klippel-Feil Syndrome 3, Autosomal Dominant|Microphthalmia, Isolated, With Coloboma 6|Microphthalmia, Isolated 7|Isolated Klippel-Feil Syndrome|Colobomatous Microphthalmia	no	no	no	no	NA
GDF5	HGNC:4220	MGI:95688	OMIM:201250|OMIM:200700|OMIM:228900|OMIM:615072|OMIM:112600|OMIM:113100|OMIM:610017|OMIM:615298|OMIM:612400|ORPHA:968|ORPHA:2098|ORPHA:2639|ORPHA:3237|ORPHA:3250|ORPHA:63442|ORPHA:93388|ORPHA:93384|ORPHA:93396	Acromesomelic Dysplasia 2C|Acromesomelic Dysplasia 2A|Acromesomelic Dysplasia 2B|Brachydactyly, Type A1, C|Brachydactyly, Type A2|Brachydactyly, Type C|Multiple Synostoses Syndrome 2|Symphalangism, Proximal, 1B|Osteoarthritis Susceptibility 5|Acromesomelic Dysplasia, Hunter-Thompson Type|Acromesomelic Dysplasia, Grebe Type|Fibular Aplasia-Complex Brachydactyly Syndrome|Multiple Synostoses Syndrome|Proximal Symphalangism|Angel-Shaped Phalango-Epiphyseal Dysplasia|Brachydactyly Type A1|Brachydactyly Type C|Brachydactyly Type A2	yes	yes	yes	yes	61.995
GDF6	HGNC:4221	MGI:95689	OMIM:118100|OMIM:615360|OMIM:613703|OMIM:613094|OMIM:617898|ORPHA:65|ORPHA:2345|ORPHA:98938	Klippel-Feil Syndrome 1, Autosomal Dominant|Leber Congenital Amaurosis 17|Microphthalmia, Isolated, With Coloboma 6|Microphthalmia, Isolated 4|Multiple Synostoses Syndrome 4|Leber Congenital Amaurosis|Isolated Klippel-Feil Syndrome|Colobomatous Microphthalmia	yes	yes	yes	yes	50.955
GDF7	HGNC:4222	MGI:95690	-	-	no	no	no	no	NA
GDF9	HGNC:4224	MGI:95692	OMIM:618014|ORPHA:619	Premature Ovarian Failure 14|Non Rare In Europe: Primary Ovarian Failure	no	no	no	no	NA
GDI1	HGNC:4226	MGI:99846	OMIM:300849|ORPHA:777	Intellectual Developmental Disorder, X-Linked 41|X-Linked Non-Syndromic Intellectual Disability	no	no	no	no	NA
GDI2	HGNC:4227	MGI:99845	-	-	yes	no	no	no	NA
GDNF	HGNC:4232	MGI:107430	OMIM:613711|ORPHA:388|ORPHA:661	Hirschsprung Disease, Susceptibility To, 3|Hirschsprung Disease|Congenital Central Hypoventilation Syndrome	no	no	no	no	NA
GDPD1	HGNC:20883	MGI:1913819	-	-	no	no	no	no	NA
GDPD2	HGNC:25974	MGI:1918834	-	-	yes	no	no	no	NA
GDPD3	HGNC:28638	MGI:1915866	-	-	no	no	no	no	NA
GDPD4	HGNC:24849	MGI:3606573	-	-	no	no	no	no	NA
GDPD5	HGNC:28804	MGI:2686926	-	-	yes	no	no	no	NA
GDPGP1	HGNC:34360	MGI:2443429	-	-	no	no	no	no	NA
GEM	HGNC:4234	MGI:99844	-	-	no	no	no	no	NA
GEMIN2	HGNC:10884	MGI:1913853	-	-	no	no	no	no	NA
GEMIN4	HGNC:15717	MGI:2449313	OMIM:617913	Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	yes	yes	yes	yes	21
GEMIN5	HGNC:20043	MGI:2449311	OMIM:619333|ORPHA:88616	Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction|Autosomal Recessive Non-Syndromic Intellectual Disability	yes	yes	yes	no	NA
GEMIN6	HGNC:20044	MGI:1914492	-	-	yes	no	no	no	NA
GEMIN7	HGNC:20045	MGI:1916981	-	-	no	no	no	no	NA
GEMIN8	HGNC:26044	MGI:2384300	-	-	no	no	no	no	NA
GEN1	HGNC:26881	MGI:2443149	-	-	no	no	no	no	NA
GET1	HGNC:12790	MGI:2136882	-	-	yes	no	no	no	NA
GET3	HGNC:752	MGI:1928379	OMIM:620203	Cardiomyopathy, Dilated, 2H	no	no	no	no	NA
GET4	HGNC:21690	MGI:1914854	OMIM:620200	Congenital Disorder Of Glycosylation, Type Iiy	yes	yes	yes	no	NA
GFAP	HGNC:4235	MGI:95697	OMIM:203450|ORPHA:363722|ORPHA:363717	Alexander Disease|Alexander Disease Type Ii|Alexander Disease Type I	no	no	no	no	NA
GFER	HGNC:4236	MGI:107757	OMIM:613076|ORPHA:330054	Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay|Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	no	no	no	no	NA
GFI1	HGNC:4237	MGI:103170	OMIM:607847|OMIM:613107|ORPHA:486	Neutropenia, Nonimmune Chronic Idiopathic, Of Adults|Neutropenia, Severe Congenital, 2, Autosomal Dominant|Autosomal Dominant Severe Congenital Neutropenia	no	no	no	no	NA
GFI1B	HGNC:4238	MGI:1276578	OMIM:187900|ORPHA:140957|ORPHA:734	Bleeding Disorder, Platelet-Type, 17|Autosomal Dominant Macrothrombocytopenia|Alpha Delta Granule Deficiency	yes	yes	yes	yes	23.405
GFM1	HGNC:13780	MGI:107339	OMIM:609060|ORPHA:137681	Combined Oxidative Phosphorylation Deficiency 1|Hepatoencephalopathy Due To Combined Oxidative Phosphorylation Defect Type 1	yes	yes	yes	no	NA
GFM2	HGNC:29682	MGI:2444783	OMIM:618397|ORPHA:565624	Combined Oxidative Phosphorylation Deficiency 39|Combined Oxidative Phosphorylation Defect Type 39	yes	yes	yes	yes	15.405
GFOD1	HGNC:21096	MGI:2145304	-	-	yes	no	no	no	NA
GFOD2	HGNC:28159	MGI:1917825	-	-	yes	no	no	no	NA
GFPT1	HGNC:4241	MGI:95698	OMIM:610542|ORPHA:353327	Myasthenic Syndrome, Congenital, 12|Congenital Myasthenic Syndromes With Glycosylation Defect	yes	yes	yes	yes	23.205
GFPT2	HGNC:4242	MGI:1338883	-	-	yes	no	no	no	NA
GFRA1	HGNC:4243	MGI:1100842	OMIM:619887|ORPHA:1848	Renal Hypodysplasia/Aplasia 4|Renal Agenesis, Bilateral	no	no	no	no	NA
GFRA2	HGNC:4244	MGI:1195462	-	-	no	no	no	no	NA
GFRA3	HGNC:4245	MGI:1201403	-	-	no	no	no	no	NA
GFRA4	HGNC:13821	MGI:1341873	-	-	no	no	no	no	NA
GFRAL	HGNC:32789	MGI:3607786	-	-	no	no	no	no	NA
GFUS	HGNC:12390	MGI:98857	-	-	no	no	no	no	NA
GFY	HGNC:44663	MGI:2685427	-	-	no	no	no	no	NA
GGA1	HGNC:17842	MGI:2146207	-	-	yes	no	no	no	NA
GGA2	HGNC:16064	MGI:1921355	-	-	no	no	no	no	NA
GGA3	HGNC:17079	MGI:2384159	-	-	no	no	no	no	NA
GGACT	HGNC:25100	MGI:2385008	-	-	no	no	no	no	NA
GGCT	HGNC:21705	MGI:95700	-	-	no	no	no	no	NA
GGCX	HGNC:4247	MGI:1927655	OMIM:610842|OMIM:277450|ORPHA:436274|ORPHA:91135|ORPHA:98434	Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency|Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1|Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa|Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency|Hereditary Combined Deficiency Of Vitamin K-Dependent Clotting Factors	no	no	no	no	NA
GGH	HGNC:4248	MGI:1329035	-	-	yes	no	no	no	NA
GGN	HGNC:18869	MGI:2181461	OMIM:619826|ORPHA:171709	Spermatogenic Failure 69|Male Infertility Due To Globozoospermia	no	no	no	no	NA
GGNBP2	HGNC:19357	MGI:2387356	-	-	yes	no	no	no	NA
GGPS1	HGNC:4249	MGI:1341724	OMIM:619518|ORPHA:642976|ORPHA:642945	Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome|Perrault Syndrome Type 2|Perrault Syndrome Type 1	yes	yes	yes	yes	18.815
GGT5	HGNC:4260	MGI:1346063	-	-	no	no	no	no	NA
GGT6	HGNC:26891	MGI:1918772	-	-	no	no	no	no	NA
GGT7	HGNC:4259	MGI:1913385	-	-	no	no	no	no	NA
GHDC	HGNC:24438	MGI:1931556	-	-	no	no	no	no	NA
GHITM	HGNC:17281	MGI:1913342	-	-	no	no	no	no	NA
GHR	HGNC:4263	MGI:95708	OMIM:604271|OMIM:143890|OMIM:262500|ORPHA:633|ORPHA:314802	Growth Hormone Insensitivity, Partial|Hypercholesterolemia, Familial, 1|Laron Syndrome|Short Stature Due To Partial Ghr Deficiency	yes	no	yes	no	NA
GHRH	HGNC:4265	MGI:95709	-	-	yes	no	no	no	NA
GHRHR	HGNC:4266	MGI:95710	OMIM:618157|ORPHA:231671	Isolated Growth Hormone Deficiency, Type Iv|Isolated Growth Hormone Deficiency Type Ib	yes	yes	yes	no	NA
GHRL	HGNC:18129	MGI:1930008	OMIM:601665	Obesity	no	no	no	no	NA
GHSR	HGNC:4267	MGI:2441906	OMIM:615925|ORPHA:314811	Growth Hormone Deficiency, Isolated Partial|Short Stature Due To Ghsr Deficiency	yes	no	yes	no	NA
GID4	HGNC:28453	MGI:1914021	-	-	no	no	no	no	NA
GID8	HGNC:15857	MGI:1923675	-	-	yes	no	no	no	NA
GIGYF1	HGNC:9126	MGI:1888677	-	-	yes	no	no	no	NA
GIGYF2	HGNC:11960	MGI:2138584	OMIM:607688|ORPHA:411602	Parkinson Disease 11, Autosomal Dominant, Susceptibility To|Hereditary Late-Onset Parkinson Disease	yes	yes	yes	yes	52.96
GIMAP1	HGNC:23237	MGI:109368	-	-	no	no	no	no	NA
GIMAP4	HGNC:21872	MGI:1349656	-	-	no	no	no	no	NA
GIMAP6	HGNC:21918	MGI:1918876	-	-	yes	no	no	no	NA
GIMAP7	HGNC:22404	MGI:1349657	-	-	no	no	no	no	NA
GIMAP8	HGNC:21792	MGI:2685303	-	-	yes	no	no	no	NA
GIMD1	HGNC:44141	MGI:3647547	-	-	no	no	no	no	NA
GIN1	HGNC:25959	MGI:2182036	-	-	yes	no	no	no	NA
GINM1	HGNC:21074	MGI:2384905	-	-	yes	no	no	no	NA
GINS1	HGNC:28980	MGI:1916520	OMIM:617827|ORPHA:505227	Immunodeficiency 55|Combined Immunodeficiency Due To Gins1 Deficiency	no	no	no	no	NA
GINS2	HGNC:24575	MGI:1921019	-	-	yes	no	no	no	NA
GINS3	HGNC:25851	MGI:1926083	-	-	yes	no	no	no	NA
GINS4	HGNC:28226	MGI:1923847	-	-	yes	no	no	no	NA
GIP	HGNC:4270	MGI:107504	-	-	no	no	no	no	NA
GIPC1	HGNC:1226	MGI:1926252	OMIM:618940|ORPHA:98897	Oculopharyngodistal Myopathy 2|Oculopharyngodistal Myopathy	no	no	no	no	NA
GIPC2	HGNC:18177	MGI:1889209	-	-	yes	no	no	no	NA
GIPC3	HGNC:18183	MGI:2387006	OMIM:601869|ORPHA:90636	Deafness, Autosomal Recessive 15|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	yes	yes	yes	yes	29.715
GIPR	HGNC:4271	MGI:1352753	-	-	yes	no	no	no	NA
GIT1	HGNC:4272	MGI:1927140	-	-	no	no	no	no	NA
GIT2	HGNC:4273	MGI:1347053	-	-	yes	no	no	no	NA
GJA1	HGNC:4274	MGI:95713	OMIM:218400|OMIM:617525|OMIM:164200|OMIM:257850|OMIM:104100|OMIM:186100|ORPHA:2248|ORPHA:1010|ORPHA:1522|ORPHA:2710|ORPHA:317|ORPHA:90636|ORPHA:93404	Craniometaphyseal Dysplasia, Autosomal Recessive|Erythrokeratodermia Variabilis Et Progressiva 3|Oculodentodigital Dysplasia|Oculodentodigital Dysplasia, Autosomal Recessive|Palmoplantar Keratoderma And Congenital Alopecia 1|Syndactyly, Type Iii|Hypoplastic Left Heart Syndrome|Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia|Craniometaphyseal Dysplasia|Erythrokeratodermia Variabilis|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb|Syndactyly Type 3	no	no	no	no	NA
GJA10	HGNC:16995	MGI:1339969	-	-	yes	no	no	no	NA
GJA3	HGNC:4277	MGI:95714	OMIM:601885|ORPHA:98984|ORPHA:98991|ORPHA:98993	Cataract 14, Multiple Types|Pulverulent Cataract|Early-Onset Nuclear Cataract|Early-Onset Posterior Polar Cataract	no	no	no	no	NA
GJA4	HGNC:4278	MGI:95715	-	-	no	no	no	no	NA
GJA5	HGNC:4279	MGI:95716	OMIM:614049|OMIM:108770|ORPHA:3303|ORPHA:334	Atrial Fibrillation, Familial, 11|Atrial Standstill 1|Tetralogy Of Fallot|Familial Atrial Fibrillation	no	no	no	no	NA
GJA8	HGNC:4281	MGI:99953	OMIM:116200|ORPHA:1377|ORPHA:91490|ORPHA:98984|ORPHA:98985|ORPHA:98991|ORPHA:98994	Cataract 1, Multiple Types|Cataract-Microcornea Syndrome|Isolated Congenital Sclerocornea|Pulverulent Cataract|Early-Onset Sutural Cataract|Early-Onset Nuclear Cataract|Total Early-Onset Cataract	yes	yes	yes	no	NA
GJB1	HGNC:4283	MGI:95719	OMIM:302800|ORPHA:1175|ORPHA:101075	Charcot-Marie-Tooth Disease, X-Linked Dominant, 1|X-Linked Progressive Cerebellar Ataxia|X-Linked Charcot-Marie-Tooth Disease Type 1	no	no	no	no	NA
GJB2	HGNC:4284	MGI:95720	OMIM:149200|OMIM:601544|OMIM:220290|OMIM:602540|OMIM:148210|OMIM:148350|OMIM:124500|ORPHA:166286|ORPHA:477|ORPHA:494|ORPHA:2202|ORPHA:2698|ORPHA:90635|ORPHA:90636	Bart-Pumphrey Syndrome|Deafness, Autosomal Dominant 3A|Deafness, Autosomal Recessive 1A|Ichthyosis, Hystrix-Like, With Deafness|Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant|Keratoderma, Palmoplantar, With Deafness|Vohwinkel Syndrome|Porokeratotic Eccrine Ostial And Dermal Duct Nevus|Kid Syndrome|Keratoderma Hereditarium Mutilans|Palmoplantar Keratoderma-Deafness Syndrome|Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome|Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	no	no	no	no	NA
GJB3	HGNC:4285	MGI:95721	OMIM:612644|OMIM:220290|OMIM:133200|ORPHA:139512|ORPHA:317|ORPHA:90635|ORPHA:90636	Deafness, Autosomal Dominant 2B|Deafness, Autosomal Recessive 1A|Erythrokeratodermia Variabilis Et Progressiva 1|Neuropathy With Hearing Impairment|Erythrokeratodermia Variabilis|Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	yes	yes	yes	yes	53.905
GJB4	HGNC:4286	MGI:95722	OMIM:617524|ORPHA:317	Erythrokeratodermia Variabilis Et Progressiva 2|Erythrokeratodermia Variabilis	yes	yes	yes	yes	19.365
GJB5	HGNC:4287	MGI:95723	-	-	no	no	no	no	NA
GJB6	HGNC:4288	MGI:107588	OMIM:612643|OMIM:220290|OMIM:612645|OMIM:129500|ORPHA:477|ORPHA:189|ORPHA:90635|ORPHA:90636	Deafness, Autosomal Dominant 3B|Deafness, Autosomal Recessive 1A|Deafness, Autosomal Recessive 1B|Clouston Syndrome|Kid Syndrome|Hidrotic Ectodermal Dysplasia|Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	no	no	no	no	NA
GJC1	HGNC:4280	MGI:95718	-	-	yes	no	no	no	NA
GJC2	HGNC:17494	MGI:2153060	OMIM:613206|OMIM:608804|OMIM:613480|ORPHA:280282|ORPHA:320401|ORPHA:79452	Spastic Paraplegia 44, Autosomal Recessive|Leukodystrophy, Hypomyelinating, 2|Lymphatic Malformation 3|Pelizaeus-Merzbacher-Like Disease Due To Gjc2 Mutation|Autosomal Recessive Spastic Paraplegia Type 44|Milroy Disease	no	no	no	no	NA
GJC3	HGNC:17495	MGI:2153041	-	-	yes	no	no	no	NA
GJD2	HGNC:19154	MGI:1334209	-	-	no	no	no	no	NA
GJD3	HGNC:19147	MGI:2384150	-	-	no	no	no	no	NA
GJD4	HGNC:23296	MGI:2444990	-	-	yes	no	no	no	NA
GJE1	HGNC:33251	MGI:1923993	-	-	yes	no	no	no	NA
GK2	HGNC:4291	MGI:1329027	-	-	yes	no	no	no	NA
GK5	HGNC:28635	MGI:2443336	-	-	no	no	no	no	NA
GKAP1	HGNC:17496	MGI:1891694	-	-	yes	no	no	no	NA
GKN1	HGNC:23217	MGI:1913533	-	-	yes	no	no	no	NA
GKN2	HGNC:24588	MGI:1913534	-	-	yes	no	no	no	NA
GKN3P	HGNC:37701	MGI:1916138	-	-	no	no	no	no	NA
GLA	HGNC:4296	MGI:1347344	OMIM:301500|ORPHA:324	Fabry Disease	yes	no	yes	no	NA
GLB1	HGNC:4298	MGI:88151	OMIM:230500|OMIM:230600|OMIM:230650|OMIM:253010|ORPHA:309310|ORPHA:79257|ORPHA:79256|ORPHA:79255	Gm1-Gangliosidosis, Type I|Gm1-Gangliosidosis, Type Ii|Gm1-Gangliosidosis, Type Iii|Mucopolysaccharidosis, Type Ivb|Mucopolysaccharidosis Type 4B|Gm1 Gangliosidosis Type 3|Gm1 Gangliosidosis Type 2|Gm1 Gangliosidosis Type 1	no	no	no	no	NA
GLB1L	HGNC:28129	MGI:1921827	-	-	no	no	no	no	NA
GLB1L2	HGNC:25129	MGI:2388283	-	-	no	no	no	no	NA
GLB1L3	HGNC:25147	MGI:1918143	-	-	yes	no	no	no	NA
GLCCI1	HGNC:18713	MGI:2179717	OMIM:614400	Glucocorticoid Therapy, Response To	no	no	no	no	NA
GLCE	HGNC:17855	MGI:2136405	-	-	no	no	no	no	NA
GLDC	HGNC:4313	MGI:1341155	OMIM:605899|ORPHA:289863|ORPHA:289857|ORPHA:289860	Glycine Encephalopathy 1|Atypical Glycine Encephalopathy|Neonatal Glycine Encephalopathy|Infantile Glycine Encephalopathy	yes	yes	yes	no	NA
GLDN	HGNC:29514	MGI:2388361	OMIM:617194	Lethal Congenital Contracture Syndrome 11	no	no	no	no	NA
GLE1	HGNC:4315	MGI:1921662	OMIM:611890|OMIM:253310|ORPHA:803|ORPHA:1486|ORPHA:53696	Congenital Arthrogryposis With Anterior Horn Cell Disease|Lethal Congenital Contracture Syndrome 1|Amyotrophic Lateral Sclerosis|Lethal Congenital Contracture Syndrome Type 1|Arthrogryposis-Anterior Horn Cell Disease Syndrome	yes	yes	yes	yes	26.05
GLG1	HGNC:4316	MGI:104967	-	-	yes	no	no	no	NA
GLI1	HGNC:4317	MGI:95727	OMIM:618123|OMIM:174400|ORPHA:289|ORPHA:93335|ORPHA:93334|ORPHA:93339	Polydactyly, Postaxial, Type A8|Polydactyly, Preaxial I|Ellis Van Creveld Syndrome|Postaxial Polydactyly Type B|Postaxial Polydactyly Type A|Polydactyly Of A Biphalangeal Thumb And/Or Hallux	no	no	no	no	NA
GLI2	HGNC:4318	MGI:95728	OMIM:615849|OMIM:610829|ORPHA:280200|ORPHA:280195|ORPHA:220386|ORPHA:420584|ORPHA:95494|ORPHA:93926|ORPHA:93924|ORPHA:93925	Culler-Jones Syndrome|Holoprosencephaly 9|Microform Holoprosencephaly|Septopreoptic Holoprosencephaly|Semilobar Holoprosencephaly|Postaxial Polydactyly-Anterior Pituitary Anomalies-Facial Dysmorphism Syndrome|Combined Pituitary Hormone Deficiencies, Genetic Forms|Midline Interhemispheric Variant Of Holoprosencephaly|Lobar Holoprosencephaly|Alobar Holoprosencephaly	no	no	no	no	NA
GLI3	HGNC:4319	MGI:95729	OMIM:175700|OMIM:146510|OMIM:174200|OMIM:174700|ORPHA:36|ORPHA:380|ORPHA:672|ORPHA:93322|ORPHA:93335|ORPHA:93334|ORPHA:93338	Greig Cephalopolysyndactyly Syndrome|Pallister-Hall Syndrome|Polydactyly, Postaxial, Type A1|Polydactyly, Preaxial Iv|Acrocallosal Syndrome|Tibial Hemimelia|Postaxial Polydactyly Type B|Postaxial Polydactyly Type A|Polysyndactyly	no	no	no	no	NA
GLIPR1	HGNC:17001	MGI:1920940	-	-	yes	no	no	no	NA
GLIPR1L2	HGNC:28592	MGI:1914787	-	-	yes	no	no	no	NA
GLIPR2	HGNC:18007	MGI:1917770	-	-	yes	no	no	no	NA
GLIS1	HGNC:29525	MGI:2386723	-	-	no	no	no	no	NA
GLIS2	HGNC:29450	MGI:1932535	OMIM:611498|ORPHA:329469|ORPHA:93592	Nephronophthisis 7|Acute Megakaryoblastic Leukemia Without Down Syndrome|Juvenile Nephronophthisis	no	no	no	no	NA
GLIS3	HGNC:28510	MGI:2444289	OMIM:610199|ORPHA:79118	Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism|Neonatal Diabetes-Congenital Hypothyroidism-Congenital Glaucoma-Hepatic Fibrosis-Polycystic Kidneys Syndrome	no	no	no	no	NA
GLMN	HGNC:14373	MGI:2141180	OMIM:138000|ORPHA:83454	Glomuvenous Malformations|Glomuvenous Malformation	yes	yes	yes	no	NA
GLMP	HGNC:29436	MGI:1913318	-	-	no	no	no	no	NA
GLO1	HGNC:4323	MGI:95742	-	-	yes	no	no	no	NA
GLOD4	HGNC:14111	MGI:1914451	-	-	no	no	no	no	NA
GLOD5	HGNC:33358	MGI:1917074	-	-	no	no	no	no	NA
GLP1R	HGNC:4324	MGI:99571	-	-	yes	no	no	no	NA
GLP2R	HGNC:4325	MGI:2136733	-	-	no	no	no	no	NA
GLRA1	HGNC:4326	MGI:95747	OMIM:149400|ORPHA:3197	Hyperekplexia 1|Hereditary Hyperekplexia	no	no	no	no	NA
GLRA2	HGNC:4327	MGI:95748	OMIM:301076	Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	yes	yes	yes	no	NA
GLRA3	HGNC:4328	MGI:95749	-	-	no	no	no	no	NA
GLRA4	HGNC:31715	MGI:95750	-	-	yes	no	no	no	NA
GLRB	HGNC:4329	MGI:95751	OMIM:614619|ORPHA:3197	Hyperekplexia 2|Hereditary Hyperekplexia	yes	yes	yes	no	NA
GLRX	HGNC:4330	MGI:2135625	-	-	no	no	no	no	NA
GLRX2	HGNC:16065	MGI:1916617	-	-	no	no	no	no	NA
GLRX3	HGNC:15987	MGI:1353653	-	-	yes	no	no	no	NA
GLRX5	HGNC:20134	MGI:1920296	OMIM:616860|OMIM:616859|ORPHA:255132|ORPHA:401866	Anemia, Sideroblastic, 3, Pyridoxine-Refractory|Spasticity, Childhood-Onset, With Hyperglycinemia|Adult-Onset Autosomal Recessive Sideroblastic Anemia|Childhood-Onset Spasticity With Hyperglycinemia	no	no	no	no	NA
GLS	HGNC:4331	MGI:95752	OMIM:618339|OMIM:618328|OMIM:618412|ORPHA:557064|ORPHA:557056	Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development|Developmental And Epileptic Encephalopathy 71|Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine|Neonatal Epileptic Encephalopathy Due To Glutaminase Deficiency|Spastic Ataxia-Dysarthria Due To Glutaminase Deficiency	yes	yes	yes	no	NA
GLS2	HGNC:29570	MGI:2143539	-	-	yes	no	no	no	NA
GLT1D1	HGNC:26483	MGI:2442755	-	-	no	no	no	no	NA
GLT6D1	HGNC:23671	MGI:1918353	-	-	no	no	no	no	NA
GLT8D1	HGNC:24870	MGI:1923735	ORPHA:803	Amyotrophic Lateral Sclerosis	no	no	no	no	NA
GLT8D2	HGNC:24890	MGI:1922032	-	-	yes	no	no	no	NA
GLTP	HGNC:24867	MGI:1929253	-	-	no	no	no	no	NA
GLTPD2	HGNC:33756	MGI:2444527	-	-	no	no	no	no	NA
GLUL	HGNC:4341	MGI:95739	OMIM:610015|ORPHA:71278	Glutamine Deficiency, Congenital|Congenital Brain Dysgenesis Due To Glutamine Synthetase Deficiency	no	no	no	no	NA
GLYAT	HGNC:13734	MGI:2147502	-	-	yes	no	no	no	NA
GLYATL3	HGNC:21349	MGI:3647683	-	-	yes	no	no	no	NA
GLYCTK	HGNC:24247	MGI:2444085	OMIM:220120|ORPHA:941	D-Glyceric Aciduria	yes	yes	yes	yes	21.49
GLYR1	HGNC:24434	MGI:1921272	-	-	yes	no	no	no	NA
GM2A	HGNC:4367	MGI:95762	OMIM:272750|ORPHA:309246	Gm2-Gangliosidosis, Ab Variant|Gm2 Gangliosidosis, Ab Variant	yes	yes	yes	no	NA
GMCL1	HGNC:23843	MGI:1345156	-	-	no	no	no	no	NA
GMDS	HGNC:4369	MGI:1891112	-	-	yes	no	no	no	NA
GMEB1	HGNC:4370	MGI:2135604	-	-	no	no	no	no	NA
GMEB2	HGNC:4371	MGI:2652836	-	-	yes	no	no	no	NA
GMFB	HGNC:4373	MGI:1927133	-	-	no	no	no	no	NA
GMFG	HGNC:4374	MGI:1927135	-	-	yes	no	no	no	NA
GMIP	HGNC:24852	MGI:1926066	-	-	yes	no	no	no	NA
GMNC	HGNC:40049	MGI:2685452	-	-	yes	no	no	no	NA
GMNN	HGNC:17493	MGI:1927344	OMIM:616835|ORPHA:2554	Meier-Gorlin Syndrome 6|Ear-Patella-Short Stature Syndrome	yes	yes	yes	no	NA
GMPPA	HGNC:22923	MGI:1916330	OMIM:615510|ORPHA:869	Alacrima, Achalasia, And Impaired Intellectual Development Syndrome|Triple A Syndrome	yes	yes	yes	yes	27.44
GMPPB	HGNC:22932	MGI:2660880	OMIM:615350|OMIM:615351|OMIM:615352|ORPHA:370959|ORPHA:370968|ORPHA:363623|ORPHA:353327|ORPHA:588	Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14|Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14|Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14|Congenital Muscular Dystrophy With Cerebellar Involvement|Congenital Muscular Dystrophy With Intellectual Disability|Gmppb-Related Limb-Girdle Muscular Dystrophy R19|Congenital Myasthenic Syndromes With Glycosylation Defect|Muscle-Eye-Brain Disease	no	no	no	no	NA
GMPR	HGNC:4376	MGI:1913605	-	-	yes	no	no	no	NA
GMPR2	HGNC:4377	MGI:1917903	-	-	no	no	no	no	NA
GMPS	HGNC:4378	MGI:2448526	-	-	yes	no	no	no	NA
GNA11	HGNC:4379	MGI:95766	OMIM:615361|OMIM:145981|ORPHA:1556|ORPHA:428|ORPHA:39044|ORPHA:79483|ORPHA:79484|ORPHA:101049	Hypocalcemia, Autosomal Dominant 2|Hypocalciuric Hypercalcemia, Familial, Type Ii|Cutis Marmorata Telangiectatica Congenita|Autosomal Dominant Hypocalcemia|Uveal Melanoma|Phakomatosis Cesioflammea|Phakomatosis Cesiomarmorata|Familial Hypocalciuric Hypercalcemia Type 2	yes	yes	yes	yes	62.205
GNA12	HGNC:4380	MGI:95767	-	-	no	no	no	no	NA
GNA13	HGNC:4381	MGI:95768	-	-	yes	no	no	no	NA
GNA14	HGNC:4382	MGI:95769	ORPHA:1063|ORPHA:2122	Tufted Angioma|Kaposiform Hemangioendothelioma	yes	yes	yes	no	NA
GNA15	HGNC:4383	MGI:95770	-	-	yes	no	no	no	NA
GNAI1	HGNC:4384	MGI:95771	OMIM:619854	Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	yes	yes	yes	no	NA
GNAI2	HGNC:4385	MGI:95772	OMIM:192605	Ventricular Tachycardia, Familial	no	no	no	no	NA
GNAI3	HGNC:4387	MGI:95773	OMIM:602483|ORPHA:137888	Auriculocondylar Syndrome 1|Auriculocondylar Syndrome	no	no	no	no	NA
GNAL	HGNC:4388	MGI:95774	OMIM:615073|ORPHA:329466	Dystonia 25|Autosomal Dominant Focal Dystonia, Dyt25 Type	no	no	no	no	NA
GNAO1	HGNC:4389	MGI:95775	OMIM:615473|OMIM:617493|ORPHA:1934|ORPHA:592564	Developmental And Epileptic Encephalopathy 17|Neurodevelopmental Disorder With Involuntary Movements|Early Infantile Epileptic Encephalopathy|Gnao1-Related Developmental Delay-Seizures-Movement Disorder Spectrum	yes	yes	yes	yes	37.88
GNAQ	HGNC:4390	MGI:95776	OMIM:163000|OMIM:185300|ORPHA:3205|ORPHA:624|ORPHA:39044|ORPHA:79483	Capillary Malformations, Congenital|Sturge-Weber Syndrome|Familial Multiple Nevi Flammei|Uveal Melanoma|Phakomatosis Cesioflammea	no	no	no	no	NA
GNAS	HGNC:4392	MGI:95777	OMIM:219080|OMIM:174800|OMIM:166350|OMIM:617686|OMIM:103580|OMIM:603233|OMIM:612462|OMIM:612463|ORPHA:562|ORPHA:189427|ORPHA:2762|ORPHA:57782|ORPHA:93276|ORPHA:93277|ORPHA:79445|ORPHA:79444|ORPHA:79443|ORPHA:94089	Acth-Independent Macronodular Adrenal Hyperplasia|Mccune-Albright Syndrome|Osseous Heteroplasia, Progressive|Pituitary Adenoma 3, Multiple Types|Pseudohypoparathyroidism, Type Ia|Pseudohypoparathyroidism, Type Ib|Pseudohypoparathyroidism, Type Ic|Pseudopseudohypoparathyroidism|Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease|Progressive Osseous Heteroplasia|Mazabraud Syndrome|Polyostotic Fibrous Dysplasia|Monostotic Fibrous Dysplasia|Pseudohypoparathyroidism Type 1C|Pseudohypoparathyroidism Type 1A|Pseudohypoparathyroidism Type 1B	yes	yes	yes	yes	21.855
GNAT1	HGNC:4393	MGI:95778	OMIM:610444|OMIM:616389|ORPHA:215	Night Blindness, Congenital Stationary, Autosomal Dominant 3|Night Blindness, Congenital Stationary, Type 1G|Congenital Stationary Night Blindness	yes	no	yes	no	NA
GNAT2	HGNC:4394	MGI:95779	OMIM:613856|ORPHA:1871|ORPHA:49382	Achromatopsia 4|Progressive Cone Dystrophy|Achromatopsia	yes	no	yes	no	NA
GNAT3	HGNC:22800	MGI:3588268	-	-	no	no	no	no	NA
GNAZ	HGNC:4395	MGI:95780	-	-	yes	no	no	no	NA
GNB1	HGNC:4396	MGI:95781	OMIM:616973|OMIM:613065|OMIM:614286|ORPHA:488613	Intellectual Developmental Disorder, Autosomal Dominant 42|Leukemia, Acute Lymphoblastic|Myelodysplastic Syndrome|Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	yes	yes	yes	yes	35.18
GNB1L	HGNC:4397	MGI:1338057	-	-	yes	no	no	no	NA
GNB2	HGNC:4398	MGI:95784	OMIM:619464|OMIM:619503|ORPHA:166282|ORPHA:528084	Sick Sinus Syndrome 4|Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies|Familial Sick Sinus Syndrome|Non-Specific Syndromic Intellectual Disability	yes	yes	yes	yes	54.125
GNB3	HGNC:4400	MGI:95785	OMIM:145500|OMIM:617024|ORPHA:215	Hypertension, Essential|Night Blindness, Congenital Stationary, Type 1H|Congenital Stationary Night Blindness	yes	no	yes	no	NA
GNB4	HGNC:20731	MGI:104581	OMIM:615185|ORPHA:352670	Charcot-Marie-Tooth Disease, Dominant Intermediate F|Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type F	yes	yes	yes	no	NA
GNB5	HGNC:4401	MGI:101848	OMIM:617173|OMIM:617182|ORPHA:542306	Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia|Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia|Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	yes	yes	yes	no	NA
GNE	HGNC:23657	MGI:1354951	OMIM:605820|OMIM:269921|ORPHA:3166|ORPHA:438207|ORPHA:602	Nonaka Myopathy|Sialuria|Severe Autosomal Recessive Macrothrombocytopenia|Gne Myopathy	yes	yes	yes	yes	27.08
GNG10	HGNC:4402	MGI:1336169	-	-	no	no	no	no	NA
GNG11	HGNC:4403	MGI:1913316	-	-	yes	no	no	no	NA
GNG12	HGNC:19663	MGI:1336171	-	-	yes	no	no	no	NA
GNG13	HGNC:14131	MGI:1925616	-	-	yes	no	no	no	NA
GNG14	HGNC:53439	MGI:3645690	-	-	no	no	no	no	NA
GNG2	HGNC:4404	MGI:102705	-	-	no	no	no	no	NA
GNG3	HGNC:4405	MGI:102704	-	-	no	no	no	no	NA
GNG4	HGNC:4407	MGI:102703	-	-	no	no	no	no	NA
GNG5	HGNC:4408	MGI:109164	-	-	no	no	no	no	NA
GNG7	HGNC:4410	MGI:95787	-	-	no	no	no	no	NA
GNG8	HGNC:19664	MGI:109163	-	-	no	no	no	no	NA
GNGT1	HGNC:4411	MGI:109165	-	-	no	no	no	no	NA
GNGT2	HGNC:4412	MGI:893584	-	-	yes	no	no	no	NA
GNL1	HGNC:4413	MGI:95764	-	-	yes	no	no	no	NA
GNL2	HGNC:29925	MGI:2385207	-	-	no	no	no	no	NA
GNL3	HGNC:29931	MGI:1353651	-	-	yes	no	no	no	NA
GNL3L	HGNC:25553	MGI:2448557	-	-	no	no	no	no	NA
GNMT	HGNC:4415	MGI:1202304	OMIM:606664|ORPHA:289891	Glycine N-Methyltransferase Deficiency|Hypermethioninemia Due To Glycine N-Methyltransferase Deficiency	no	no	no	no	NA
GNPAT	HGNC:4416	MGI:1343460	OMIM:222765|ORPHA:309796	Rhizomelic Chondrodysplasia Punctata, Type 2|Rhizomelic Chondrodysplasia Punctata Type 2	no	no	no	no	NA
GNPDA1	HGNC:4417	MGI:1347054	-	-	yes	no	no	no	NA
GNPDA2	HGNC:21526	MGI:1915230	-	-	yes	no	no	no	NA
GNPNAT1	HGNC:19980	MGI:1858963	-	-	no	no	no	no	NA
GNPTAB	HGNC:29670	MGI:3643902	OMIM:252500|OMIM:252600|ORPHA:576|ORPHA:423461	Mucolipidosis Ii Alpha/Beta|Mucolipidosis Iii Alpha/Beta|Mucolipidosis Type Ii|Mucolipidosis Type Iii Alpha/Beta	yes	yes	yes	yes	48.265
GNPTG	HGNC:23026	MGI:2147006	OMIM:252605|ORPHA:423470	Mucolipidosis Iii Gamma|Mucolipidosis Type Iii Gamma	yes	yes	yes	yes	33.835
GNRH1	HGNC:4419	MGI:95789	OMIM:614841|ORPHA:432	Hypogonadotropic Hypogonadism 12 With Or Without Anosmia|Normosmic Congenital Hypogonadotropic Hypogonadism	no	no	no	no	NA
GNRHR	HGNC:4421	MGI:95790	OMIM:146110|ORPHA:432	Hypogonadotropic Hypogonadism 7 With Or Without Anosmia|Normosmic Congenital Hypogonadotropic Hypogonadism	no	no	no	no	NA
GNS	HGNC:4422	MGI:1922862	OMIM:252940|ORPHA:79272	Mucopolysaccharidosis, Type Iiid|Sanfilippo Syndrome Type D	no	no	no	no	NA
GOLGA1	HGNC:4424	MGI:1924149	-	-	no	no	no	no	NA
GOLGA2	HGNC:4425	MGI:2139395	OMIM:620240	Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	no	no	no	no	NA
GOLGA3	HGNC:4426	MGI:96958	-	-	yes	no	no	no	NA
GOLGA4	HGNC:4427	MGI:1859646	-	-	yes	no	no	no	NA
GOLGA5	HGNC:4428	MGI:1351475	ORPHA:146	Differentiated Thyroid Carcinoma	yes	yes	no	no	NA
GOLGA7	HGNC:24876	MGI:1931029	-	-	yes	no	no	no	NA
GOLGA7B	HGNC:31668	MGI:1918396	-	-	yes	no	no	no	NA
GOLGB1	HGNC:4429	MGI:1099447	-	-	yes	no	no	no	NA
GOLIM4	HGNC:15448	MGI:1920374	-	-	no	no	no	no	NA
GOLM1	HGNC:15451	MGI:1917329	-	-	yes	no	no	no	NA
GOLM2	HGNC:24892	MGI:2443129	-	-	yes	no	no	no	NA
GOLPH3	HGNC:15452	MGI:1913879	-	-	yes	no	no	no	NA
GOLPH3L	HGNC:24882	MGI:1917129	-	-	no	no	no	no	NA
GOLT1A	HGNC:24766	MGI:1915588	-	-	yes	no	no	no	NA
GOLT1B	HGNC:20175	MGI:1914214	-	-	yes	no	no	no	NA
GON4L	HGNC:25973	MGI:1917579	-	-	no	no	no	no	NA
GON7	HGNC:20356	MGI:4845848	OMIM:619603|ORPHA:2065	Galloway-Mowat Syndrome 9|Galloway-Mowat Syndrome	no	no	no	no	NA
GOPC	HGNC:17643	MGI:2149946	ORPHA:171709	Male Infertility Due To Globozoospermia	yes	yes	no	no	NA
GORAB	HGNC:25676	MGI:2138271	OMIM:231070|ORPHA:2078	Geroderma Osteodysplasticum|Geroderma Osteodysplastica	no	no	no	no	NA
GORASP1	HGNC:16769	MGI:1921748	-	-	yes	no	no	no	NA
GORASP2	HGNC:17500	MGI:2135962	-	-	no	no	no	no	NA
GOSR1	HGNC:4430	MGI:1858260	-	-	no	no	no	no	NA
GOSR2	HGNC:4431	MGI:1927204	OMIM:614018|OMIM:620166|ORPHA:280620	Epilepsy, Progressive Myoclonic, 6|Muscular Dystrophy, Congenital, With Or Without Seizures|Progressive Myoclonic Epilepsy Type 6	yes	yes	yes	yes	52.475
GOT1	HGNC:4432	MGI:95791	OMIM:614419	Aspartate Aminotransferase, Serum Level Of, Quantitative Trait Locus 1	yes	yes	no	no	NA
GOT1L1	HGNC:28487	MGI:1923865	-	-	no	no	no	no	NA
GOT2	HGNC:4433	MGI:95792	OMIM:618721	Developmental And Epileptic Encephalopathy 82	yes	yes	yes	yes	21.075
GP1BA	HGNC:4439	MGI:1333744	OMIM:231200|OMIM:153670|OMIM:177820|OMIM:258660|ORPHA:274|ORPHA:140957|ORPHA:853|ORPHA:52530	Bernard-Soulier Syndrome|Bernard-Soulier Syndrome, Type A2, Autosomal Dominant|Pseudo-Von Willebrand Disease|Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To|Autosomal Dominant Macrothrombocytopenia|Fetal And Neonatal Alloimmune Thrombocytopenia	no	no	no	no	NA
GP1BB	HGNC:4440	MGI:107852	OMIM:231200|ORPHA:567|ORPHA:274|ORPHA:140957|ORPHA:853	Bernard-Soulier Syndrome|22Q11.2 Deletion Syndrome|Autosomal Dominant Macrothrombocytopenia|Fetal And Neonatal Alloimmune Thrombocytopenia	yes	yes	yes	yes	68.5
GP2	HGNC:4441	MGI:1914383	-	-	yes	no	no	no	NA
GP5	HGNC:4443	MGI:1096363	-	-	no	no	no	no	NA
GP6	HGNC:14388	MGI:1889810	OMIM:614201|ORPHA:98885	Bleeding Disorder, Platelet-Type, 11|Bleeding Diathesis Due To Glycoprotein Vi Deficiency	yes	yes	yes	yes	19.055
GP9	HGNC:4444	MGI:1860137	OMIM:231200|ORPHA:274	Bernard-Soulier Syndrome	yes	yes	yes	yes	66.93
GPA33	HGNC:4445	MGI:1891703	-	-	yes	no	no	no	NA
GPAA1	HGNC:4446	MGI:1202392	OMIM:617810|ORPHA:529665	Glycosylphosphatidylinositol Biosynthesis Defect 15|Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	yes	yes	yes	yes	24.89
GPALPP1	HGNC:20298	MGI:1914717	-	-	yes	no	no	no	NA
GPAM	HGNC:24865	MGI:109162	-	-	no	no	no	no	NA
GPANK1	HGNC:13920	MGI:2148975	-	-	yes	no	no	no	NA
GPAT2	HGNC:27168	MGI:2684962	-	-	no	no	no	no	NA
GPAT3	HGNC:28157	MGI:3603816	-	-	no	no	no	no	NA
GPAT4	HGNC:20880	MGI:2142716	-	-	no	no	no	no	NA
GPATCH1	HGNC:24658	MGI:1914721	-	-	yes	no	no	no	NA
GPATCH11	HGNC:26768	MGI:1858435	-	-	no	no	no	no	NA
GPATCH2	HGNC:25499	MGI:1915019	-	-	no	no	no	no	NA
GPATCH2L	HGNC:20210	MGI:1917623	-	-	yes	no	no	no	NA
GPATCH3	HGNC:25720	MGI:2442492	-	-	yes	no	no	no	NA
GPATCH4	HGNC:25982	MGI:1913864	-	-	no	no	no	no	NA
GPATCH8	HGNC:29066	MGI:1918667	-	-	no	no	no	no	NA
GPBAR1	HGNC:19680	MGI:2653863	-	-	yes	no	no	no	NA
GPBP1	HGNC:29520	MGI:1920524	-	-	yes	no	no	no	NA
GPBP1L1	HGNC:28843	MGI:1924360	-	-	yes	no	no	no	NA
GPC1	HGNC:4449	MGI:1194891	-	-	yes	no	no	no	NA
GPC2	HGNC:4450	MGI:1919201	-	-	yes	no	no	no	NA
GPC3	HGNC:4451	MGI:104903	OMIM:312870|OMIM:194070|ORPHA:654|ORPHA:373	Simpson-Golabi-Behmel Syndrome, Type 1|Wilms Tumor 1|Nephroblastoma|Simpson-Golabi-Behmel Syndrome	no	no	no	no	NA
GPC4	HGNC:4452	MGI:104902	OMIM:301026|ORPHA:373|ORPHA:2662	Keipert Syndrome|Simpson-Golabi-Behmel Syndrome	yes	yes	yes	yes	32.82
GPC5	HGNC:4453	MGI:1194894	-	-	yes	no	no	no	NA
GPC6	HGNC:4454	MGI:1346322	OMIM:258315|ORPHA:93329	Omodysplasia 1|Autosomal Recessive Omodysplasia	yes	yes	yes	no	NA
GPCPD1	HGNC:26957	MGI:104898	-	-	yes	no	no	no	NA
GPD1	HGNC:4455	MGI:95679	OMIM:614480|ORPHA:300293	Hypertriglyceridemia, Transient Infantile|Transient Infantile Hypertriglyceridemia And Hepatosteatosis	yes	yes	yes	yes	27.02
GPD1L	HGNC:28956	MGI:1289257	OMIM:611777|ORPHA:130	Brugada Syndrome 2|Brugada Syndrome	yes	yes	yes	no	NA
GPD2	HGNC:4456	MGI:99778	OMIM:125853	Type 2 Diabetes Mellitus	no	no	no	no	NA
GPER1	HGNC:4485	MGI:1924104	-	-	yes	no	no	no	NA
GPHA2	HGNC:18054	MGI:2156541	-	-	no	no	no	no	NA
GPHB5	HGNC:18055	MGI:2156540	-	-	no	no	no	no	NA
GPHN	HGNC:15465	MGI:109602	OMIM:615501|ORPHA:3197|ORPHA:308400	Molybdenum Cofactor Deficiency, Complementation Group C|Hereditary Hyperekplexia|Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type C	no	no	no	no	NA
GPI	HGNC:4458	MGI:95797	OMIM:613470|ORPHA:712	Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency|Hemolytic Anemia Due To Glucophosphate Isomerase Deficiency	no	no	no	no	NA
GPIHBP1	HGNC:24945	MGI:1915703	OMIM:615947|ORPHA:535458	Hyperlipoproteinemia, Type Id|Familial Gpihbp1 Deficiency	no	no	no	no	NA
GPKOW	HGNC:30677	MGI:1859610	ORPHA:2570	Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	no	no	no	no	NA
GPLD1	HGNC:4459	MGI:106604	-	-	yes	no	no	no	NA
GPM6A	HGNC:4460	MGI:107671	-	-	no	no	no	no	NA
GPM6B	HGNC:4461	MGI:107672	-	-	no	no	no	no	NA
GPN1	HGNC:17030	MGI:1921504	-	-	yes	no	no	no	NA
GPN2	HGNC:25513	MGI:2140368	-	-	no	no	no	no	NA
GPN3	HGNC:30186	MGI:1289326	-	-	no	no	no	no	NA
GPNMB	HGNC:4462	MGI:1934765	OMIM:617920|ORPHA:319635	Amyloidosis, Primary Localized Cutaneous, 3|Amyloidosis Cutis Dyschromia	yes	yes	yes	no	NA
GPR101	HGNC:14963	MGI:2685211	OMIM:300943|ORPHA:963	Pituitary Adenoma 2, Growth Hormone-Secreting|Acromegaly	yes	yes	yes	yes	26.135
GPR107	HGNC:17830	MGI:2139054	-	-	yes	no	no	no	NA
GPR108	HGNC:17829	MGI:1925558	-	-	yes	no	no	no	NA
GPR119	HGNC:19060	MGI:2668412	-	-	yes	no	no	no	NA
GPR12	HGNC:4466	MGI:101909	-	-	no	no	no	no	NA
GPR132	HGNC:17482	MGI:1890220	-	-	no	no	no	no	NA
GPR135	HGNC:19991	MGI:2676315	-	-	yes	no	no	no	NA
GPR137	HGNC:24300	MGI:2147529	-	-	yes	no	no	no	NA
GPR137B	HGNC:11862	MGI:1891463	-	-	yes	no	no	no	NA
GPR137C	HGNC:25445	MGI:1917963	-	-	no	no	no	no	NA
GPR139	HGNC:19995	MGI:2685341	-	-	yes	no	no	no	NA
GPR141	HGNC:19997	MGI:2672983	-	-	no	no	no	no	NA
GPR142	HGNC:20088	MGI:2668437	-	-	yes	no	no	no	NA
GPR143	HGNC:20145	MGI:107193	OMIM:300814|OMIM:300500|ORPHA:54|ORPHA:651	Nystagmus 6, Congenital, X-Linked|Albinism, Ocular, Type I|X-Linked Recessive Ocular Albinism|Non Rare In Europe: Idiopathic Infantile Nystagmus	no	no	no	no	NA
GPR146	HGNC:21718	MGI:1933113	-	-	yes	no	no	no	NA
GPR149	HGNC:23627	MGI:2443628	-	-	no	no	no	no	NA
GPR15	HGNC:4469	MGI:1918473	-	-	yes	no	no	no	NA
GPR150	HGNC:23628	MGI:2441872	-	-	yes	no	no	no	NA
GPR151	HGNC:23624	MGI:2441887	-	-	no	no	no	no	NA
GPR152	HGNC:23622	MGI:2685519	-	-	yes	no	no	no	NA
GPR153	HGNC:23618	MGI:1916157	-	-	yes	no	no	no	NA
GPR155	HGNC:22951	MGI:1915776	-	-	yes	no	no	no	NA
GPR156	HGNC:20844	MGI:2653880	OMIM:620551	Deafness, Autosomal Recessive 121	yes	yes	yes	no	NA
GPR157	HGNC:23687	MGI:2442046	-	-	yes	no	no	no	NA
GPR158	HGNC:23689	MGI:2441697	-	-	yes	no	no	no	NA
GPR15LG	HGNC:31428	MGI:1917295	-	-	no	no	no	no	NA
GPR160	HGNC:23693	MGI:1919112	-	-	yes	no	no	no	NA
GPR161	HGNC:23694	MGI:2685054	OMIM:155255|ORPHA:95496	Medulloblastoma|Pituitary Stalk Interruption Syndrome	no	no	no	no	NA
GPR162	HGNC:16693	MGI:1315214	-	-	no	no	no	no	NA
GPR17	HGNC:4471	MGI:3584514	-	-	yes	no	no	no	NA
GPR171	HGNC:30057	MGI:2442043	-	-	no	no	no	no	NA
GPR173	HGNC:18186	MGI:1918021	-	-	yes	no	no	no	NA
GPR174	HGNC:30245	MGI:2685222	-	-	no	no	no	no	NA
GPR176	HGNC:32370	MGI:2685858	-	-	yes	no	no	no	NA
GPR179	HGNC:31371	MGI:2443409	OMIM:614565|ORPHA:215	Night Blindness, Congenital Stationary, Type 1E|Congenital Stationary Night Blindness	no	no	no	no	NA
GPR18	HGNC:4472	MGI:107859	-	-	no	no	no	no	NA
GPR180	HGNC:28899	MGI:1930949	-	-	no	no	no	no	NA
GPR182	HGNC:13708	MGI:109545	-	-	yes	no	no	no	NA
GPR183	HGNC:3128	MGI:2442034	-	-	yes	no	no	no	NA
GPR19	HGNC:4473	MGI:892973	-	-	yes	no	no	no	NA
GPR20	HGNC:4475	MGI:2441803	-	-	yes	no	no	no	NA
GPR21	HGNC:4476	MGI:2441890	-	-	no	no	no	no	NA
GPR22	HGNC:4477	MGI:1920260	-	-	yes	no	no	no	NA
GPR25	HGNC:4480	MGI:2686146	-	-	yes	no	no	no	NA
GPR26	HGNC:4481	MGI:2441758	-	-	no	no	no	no	NA
GPR27	HGNC:4482	MGI:1202299	-	-	no	no	no	no	NA
GPR3	HGNC:4484	MGI:101908	-	-	no	no	no	no	NA
GPR31	HGNC:4486	MGI:1354372	-	-	no	no	no	no	NA
GPR33	HGNC:4489	MGI:1277106	-	-	yes	no	no	no	NA
GPR34	HGNC:4490	MGI:1346334	-	-	yes	no	no	no	NA
GPR35	HGNC:4492	MGI:1929509	ORPHA:171	Primary Sclerosing Cholangitis	yes	no	yes	no	NA
GPR37	HGNC:4494	MGI:1313297	-	-	no	no	no	no	NA
GPR37L1	HGNC:14923	MGI:1928503	-	-	no	no	no	no	NA
GPR39	HGNC:4496	MGI:1918361	-	-	yes	no	no	no	NA
GPR4	HGNC:4497	MGI:2441992	-	-	no	no	no	no	NA
GPR45	HGNC:4503	MGI:2135882	-	-	no	no	no	no	NA
GPR50	HGNC:4506	MGI:1333877	-	-	yes	no	no	no	NA
GPR52	HGNC:4508	MGI:3643278	-	-	no	no	no	no	NA
GPR55	HGNC:4511	MGI:2685064	-	-	yes	no	no	no	NA
GPR6	HGNC:4515	MGI:2155249	-	-	no	no	no	no	NA
GPR61	HGNC:13300	MGI:2441719	-	-	yes	no	no	no	NA
GPR62	HGNC:13301	MGI:3525078	-	-	yes	no	no	no	NA
GPR63	HGNC:13302	MGI:2135884	-	-	yes	no	no	no	NA
GPR65	HGNC:4517	MGI:108031	-	-	yes	no	no	no	NA
GPR68	HGNC:4519	MGI:2441763	OMIM:617217|ORPHA:100033	Amelogenesis Imperfecta, Hypomaturation Type, Iia6|Hypomaturation Amelogenesis Imperfecta	yes	no	yes	no	NA
GPR75	HGNC:4526	MGI:2441843	-	-	no	no	no	no	NA
GPR82	HGNC:4533	MGI:2441734	-	-	no	no	no	no	NA
GPR83	HGNC:4523	MGI:95712	-	-	yes	no	no	no	NA
GPR84	HGNC:4535	MGI:1934129	-	-	yes	no	no	no	NA
GPR85	HGNC:4536	MGI:1927851	-	-	no	no	no	no	NA
GPR87	HGNC:4538	MGI:1934133	-	-	yes	no	no	no	NA
GPR88	HGNC:4539	MGI:1927653	OMIM:616939	Chorea, Childhood-Onset, With Psychomotor Retardation	no	no	no	no	NA
GPRASP1	HGNC:24834	MGI:1917418	-	-	no	no	no	no	NA
GPRASP2	HGNC:25169	MGI:2442071	OMIM:301018|ORPHA:500188	Deafness, X-Linked 7|X-Linked External Auditory Canal Atresia-Dilated Internal Auditory Canal-Facial Dysmorphism Syndrome	yes	yes	yes	no	NA
GPRASP3	HGNC:29353	MGI:1917487	-	-	no	no	no	no	NA
GPRC5A	HGNC:9836	MGI:1891250	-	-	no	no	no	no	NA
GPRC5B	HGNC:13308	MGI:1927596	OMIM:620447	Megalencephalic Leukoencephalopathy With Subcortical Cysts 3	yes	yes	yes	no	NA
GPRC5C	HGNC:13309	MGI:1917605	-	-	no	no	no	no	NA
GPRC5D	HGNC:13310	MGI:1935037	-	-	yes	no	no	no	NA
GPRC6A	HGNC:18510	MGI:2429498	-	-	yes	no	no	no	NA
GPRIN1	HGNC:24835	MGI:1349455	-	-	yes	no	no	no	NA
GPRIN2	HGNC:23730	MGI:2444560	-	-	yes	no	no	no	NA
GPRIN3	HGNC:27733	MGI:1924785	-	-	yes	no	no	no	NA
GPS1	HGNC:4549	MGI:2384801	-	-	yes	no	no	no	NA
GPS2	HGNC:4550	MGI:1891751	-	-	no	no	no	no	NA
GPSM1	HGNC:17858	MGI:1915089	-	-	yes	no	no	no	NA
GPSM2	HGNC:29501	MGI:1923373	OMIM:604213|ORPHA:314597|ORPHA:90636	Chudley-Mccullough Syndrome|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	yes	yes	yes	no	NA
GPSM3	HGNC:13945	MGI:2146785	-	-	yes	no	no	no	NA
GPT	HGNC:4552	MGI:95802	-	-	yes	no	no	no	NA
GPT2	HGNC:18062	MGI:1915391	OMIM:616281|ORPHA:477673	Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly|Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	yes	yes	yes	no	NA
GPX1	HGNC:4553	MGI:104887	OMIM:614164	Glutathione Peroxidase Deficiency	yes	yes	yes	no	NA
GPX2	HGNC:4554	MGI:106609	-	-	no	no	no	no	NA
GPX3	HGNC:4555	MGI:105102	-	-	yes	no	no	no	NA
GPX4	HGNC:4556	MGI:104767	OMIM:250220|ORPHA:93317	Spondylometaphyseal Dysplasia, Sedaghatian Type	yes	yes	yes	no	NA
GPX5	HGNC:4557	MGI:104886	-	-	yes	no	no	no	NA
GPX6	HGNC:4558	MGI:1922762	-	-	yes	no	no	no	NA
GPX7	HGNC:4559	MGI:1914555	-	-	yes	no	no	no	NA
GPX8	HGNC:33100	MGI:1916840	-	-	no	no	no	no	NA
GRAMD1A	HGNC:29305	MGI:105490	-	-	no	no	no	no	NA
GRAMD1B	HGNC:29214	MGI:1925037	-	-	yes	no	no	no	NA
GRAMD1C	HGNC:25252	MGI:2443024	-	-	yes	no	no	no	NA
GRAMD2A	HGNC:27287	MGI:3528937	-	-	yes	no	no	no	NA
GRAMD2B	HGNC:24911	MGI:1914815	-	-	yes	no	no	no	NA
GRAMD4	HGNC:29113	MGI:2676308	-	-	no	no	no	no	NA
GRAP	HGNC:4562	MGI:1918770	OMIM:618456|ORPHA:90636	Deafness, Autosomal Recessive 114|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	no	no	no	no	NA
GRAP2	HGNC:4563	MGI:1333842	-	-	no	no	no	no	NA
GRB10	HGNC:4564	MGI:103232	ORPHA:96182	Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	yes	no	yes	no	NA
GRB14	HGNC:4565	MGI:1355324	-	-	no	no	no	no	NA
GRB2	HGNC:4566	MGI:95805	-	-	yes	no	no	no	NA
GRB7	HGNC:4567	MGI:102683	-	-	yes	no	no	no	NA
GREB1	HGNC:24885	MGI:2149712	-	-	yes	no	no	no	NA
GREB1L	HGNC:31042	MGI:3576497	OMIM:619274|OMIM:617805|ORPHA:1848|ORPHA:93100	Deafness, Autosomal Dominant 80|Renal Hypodysplasia/Aplasia 3|Renal Agenesis, Bilateral|Renal Agenesis, Unilateral	yes	yes	yes	yes	24.615
GREM1	HGNC:2001	MGI:1344337	ORPHA:157794	Hereditary Mixed Polyposis Syndrome	no	no	no	no	NA
GREM2	HGNC:17655	MGI:1344367	OMIM:617275	Tooth Agenesis, Selective, 9	yes	yes	yes	no	NA
GRHL1	HGNC:17923	MGI:2182540	-	-	no	no	no	no	NA
GRHL2	HGNC:2799	MGI:2182543	OMIM:618031|OMIM:608641|OMIM:616029|ORPHA:423454|ORPHA:90635|ORPHA:98973	Corneal Dystrophy, Posterior Polymorphous, 4|Deafness, Autosomal Dominant 28|Ectodermal Dysplasia/Short Stature Syndrome|Nail And Teeth Abnormalities-Marginal Palmoplantar Keratoderma-Oral Hyperpigmentation Syndrome|Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna|Posterior Polymorphous Corneal Dystrophy	yes	yes	yes	yes	22.035
GRHL3	HGNC:25839	MGI:2655333	OMIM:606713|ORPHA:888|ORPHA:155878|ORPHA:101023|ORPHA:99772|ORPHA:99771	Van Der Woude Syndrome 2|Van Der Woude Syndrome|Submucosal Cleft Palate|Cleft Hard Palate|Cleft Velum|Bifid Uvula	yes	yes	yes	no	NA
GRHPR	HGNC:4570	MGI:1923488	OMIM:260000|ORPHA:93599	Hyperoxaluria, Primary, Type Ii|Primary Hyperoxaluria Type 2	no	no	no	no	NA
GRIA1	HGNC:4571	MGI:95808	OMIM:619931|OMIM:619927|ORPHA:178469|ORPHA:88616	Intellectual Developmental Disorder, Autosomal Recessive 76|Intellectual Developmental Disorder, Autosomal Dominant 67|Autosomal Dominant Non-Syndromic Intellectual Disability|Autosomal Recessive Non-Syndromic Intellectual Disability	yes	yes	yes	yes	51.57
GRIA2	HGNC:4572	MGI:95809	OMIM:618917	Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	yes	yes	yes	no	NA
GRIA3	HGNC:4573	MGI:95810	OMIM:300699|ORPHA:364028	Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type|X-Linked Intellectual Disability Due To Gria3 Mutations	no	no	no	no	NA
GRIA4	HGNC:4574	MGI:95811	OMIM:617864|ORPHA:528084	Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities|Non-Specific Syndromic Intellectual Disability	no	no	no	no	NA
GRID1	HGNC:4575	MGI:95812	-	-	no	no	no	no	NA
GRID2	HGNC:4576	MGI:95813	OMIM:616204|ORPHA:363432	Spinocerebellar Ataxia, Autosomal Recessive 18|Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency	no	no	no	no	NA
GRID2IP	HGNC:18464	MGI:2176213	-	-	no	no	no	no	NA
GRIFIN	HGNC:4577	MGI:1925248	-	-	no	no	no	no	NA
GRIK1	HGNC:4579	MGI:95814	-	-	yes	no	no	no	NA
GRIK2	HGNC:4580	MGI:95815	OMIM:611092|OMIM:619580|ORPHA:88616	Intellectual Developmental Disorder, Autosomal Recessive 6|Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures|Autosomal Recessive Non-Syndromic Intellectual Disability	no	no	no	no	NA
GRIK3	HGNC:4581	MGI:95816	-	-	yes	no	no	no	NA
GRIK4	HGNC:4582	MGI:95817	-	-	yes	no	no	no	NA
GRIK5	HGNC:4583	MGI:95818	-	-	yes	no	no	no	NA
GRIN1	HGNC:4584	MGI:95819	OMIM:619814|OMIM:614254|OMIM:617820|ORPHA:178469|ORPHA:1934|ORPHA:208447	Developmental And Epileptic Encephalopathy 101|Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant|Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive|Autosomal Dominant Non-Syndromic Intellectual Disability|Early Infantile Epileptic Encephalopathy|Bilateral Generalized Polymicrogyria	yes	yes	yes	no	NA
GRIN2A	HGNC:4585	MGI:95820	OMIM:245570|ORPHA:163721|ORPHA:1945|ORPHA:289266|ORPHA:725|ORPHA:98818	Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development|Rolandic Epilepsy-Speech Dyspraxia Syndrome|Rolandic Epilepsy|Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation|Continuous Spikes And Waves During Sleep|Landau-Kleffner Syndrome	yes	no	yes	no	NA
GRIN2B	HGNC:4586	MGI:95821	OMIM:616139|OMIM:613970|ORPHA:178469|ORPHA:3451|ORPHA:589547	Developmental And Epileptic Encephalopathy 27|Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures|Autosomal Dominant Non-Syndromic Intellectual Disability|Infantile Spasms Syndrome|Grin2B-Related Developmental Delay, Intellectual Disability And Autism Spectrum Disorder	yes	yes	yes	yes	30.395
GRIN2C	HGNC:4587	MGI:95822	-	-	no	no	no	no	NA
GRIN2D	HGNC:4588	MGI:95823	OMIM:617162|ORPHA:442835	Developmental And Epileptic Encephalopathy 46|Non-Specific Early-Onset Epileptic Encephalopathy	yes	yes	yes	yes	17.77
GRIN3A	HGNC:16767	MGI:1933206	-	-	yes	no	no	no	NA
GRIN3B	HGNC:16768	MGI:2150393	-	-	yes	no	no	no	NA
GRINA	HGNC:4589	MGI:1913418	-	-	no	no	no	no	NA
GRIP1	HGNC:18708	MGI:1921303	OMIM:617667|ORPHA:2052	Fraser Syndrome 3|Fraser Syndrome	no	no	no	no	NA
GRIP2	HGNC:23841	MGI:2681173	-	-	no	no	no	no	NA
GRIPAP1	HGNC:18706	MGI:1859616	-	-	no	no	no	no	NA
GRK1	HGNC:10013	MGI:1345146	OMIM:613411|ORPHA:215|ORPHA:75382	Oguchi Disease 2|Congenital Stationary Night Blindness|Oguchi Disease	no	no	no	no	NA
GRK2	HGNC:289	MGI:87940	-	-	no	no	no	no	NA
GRK3	HGNC:290	MGI:87941	-	-	yes	no	no	no	NA
GRK4	HGNC:4543	MGI:95801	-	-	no	no	no	no	NA
GRK5	HGNC:4544	MGI:109161	-	-	yes	no	no	no	NA
GRK6	HGNC:4545	MGI:1347078	-	-	no	no	no	no	NA
GRM1	HGNC:4593	MGI:1351338	OMIM:617691|OMIM:614831|ORPHA:324262|ORPHA:404507|ORPHA:631095	Spinocerebellar Ataxia 44|Spinocerebellar Ataxia, Autosomal Recessive 13|Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency|Chondromyxoid Fibroma|Spinocerebellar Ataxia Type 44	yes	no	yes	no	NA
GRM2	HGNC:4594	MGI:1351339	-	-	no	no	no	no	NA
GRM3	HGNC:4595	MGI:1351340	-	-	yes	no	no	no	NA
GRM4	HGNC:4596	MGI:1351341	-	-	yes	no	no	no	NA
GRM5	HGNC:4597	MGI:1351342	-	-	yes	no	no	no	NA
GRM6	HGNC:4598	MGI:1351343	OMIM:257270|ORPHA:215	Night Blindness, Congenital Stationary, Type 1B|Congenital Stationary Night Blindness	yes	yes	yes	yes	26.315
GRM7	HGNC:4599	MGI:1351344	OMIM:618922|ORPHA:1934|ORPHA:88616	Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities|Early Infantile Epileptic Encephalopathy|Autosomal Recessive Non-Syndromic Intellectual Disability	yes	yes	yes	yes	39.775
GRM8	HGNC:4600	MGI:1351345	-	-	yes	no	no	no	NA
GRN	HGNC:4601	MGI:95832	OMIM:607485|OMIM:614706|ORPHA:275864|ORPHA:314629|ORPHA:100069|ORPHA:100070	Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related|Ceroid Lipofuscinosis, Neuronal, 11|Behavioral Variant Of Frontotemporal Dementia|Cln11 Disease|Semantic Dementia|Progressive Non-Fluent Aphasia	yes	yes	yes	no	NA
GRP	HGNC:4605	MGI:95833	-	-	yes	no	no	no	NA
GRPEL1	HGNC:19696	MGI:1334417	-	-	no	no	no	no	NA
GRPEL2	HGNC:21060	MGI:1334416	-	-	no	no	no	no	NA
GRPR	HGNC:4609	MGI:95836	-	-	no	no	no	no	NA
GRSF1	HGNC:4610	MGI:106479	-	-	yes	no	no	no	NA
GRTP1	HGNC:20310	MGI:1914040	-	-	yes	no	no	no	NA
GRWD1	HGNC:21270	MGI:2141989	-	-	no	no	no	no	NA
GRXCR1	HGNC:31673	MGI:3577767	OMIM:613285|ORPHA:90636	Deafness, Autosomal Recessive 25|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	yes	yes	yes	yes	36.805
GRXCR2	HGNC:33862	MGI:2685697	OMIM:615837|ORPHA:90636	Deafness, Autosomal Recessive 101|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	no	no	no	no	NA
GSAP	HGNC:28042	MGI:2442259	-	-	no	no	no	no	NA
GSC	HGNC:4612	MGI:95841	OMIM:602471|ORPHA:397623	Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities|Short Stature-Auditory Canal Atresia-Mandibular Hypoplasia-Skeletal Anomalies Syndrome	no	no	no	no	NA
GSC2	HGNC:4613	MGI:892006	-	-	no	no	no	no	NA
GSDMD	HGNC:25697	MGI:1916396	-	-	yes	no	no	no	NA
GSDME	HGNC:2810	MGI:1889850	OMIM:600994|ORPHA:90635	Deafness, Autosomal Dominant 5|Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	yes	yes	yes	no	NA
GSE1	HGNC:28979	MGI:1098275	-	-	yes	no	no	no	NA
GSG1	HGNC:19716	MGI:1194499	-	-	no	no	no	no	NA
GSG1L	HGNC:28283	MGI:2685483	-	-	yes	no	no	no	NA
GSG1L2	HGNC:51826	MGI:3650209	-	-	no	no	no	no	NA
GSK3A	HGNC:4616	MGI:2152453	-	-	yes	no	no	no	NA
GSK3B	HGNC:4617	MGI:1861437	-	-	no	no	no	no	NA
GSKIP	HGNC:20343	MGI:1914037	-	-	no	no	no	no	NA
GSN	HGNC:4620	MGI:95851	OMIM:105120|ORPHA:85448	Amyloidosis, Finnish Type|Agel Amyloidosis	no	no	no	no	NA
GSPT1	HGNC:4621	MGI:1316728	-	-	yes	no	no	no	NA
GSPT2	HGNC:4622	MGI:1316727	-	-	yes	no	no	no	NA
GSR	HGNC:4623	MGI:95804	OMIM:618660|ORPHA:90030	Hemolytic Anemia Due To Glutathione Reductase Deficiency	yes	yes	yes	yes	19.39
GSS	HGNC:4624	MGI:95852	OMIM:266130|OMIM:231900|ORPHA:289846|ORPHA:289849	Glutathione Synthetase Deficiency|Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To|Glutathione Synthetase Deficiency With 5-Oxoprolinuria|Glutathione Synthetase Deficiency Without 5-Oxoprolinuria	no	no	no	no	NA
GSTCD	HGNC:25806	MGI:1914803	-	-	yes	no	no	no	NA
GSTK1	HGNC:16906	MGI:1923513	-	-	no	no	no	no	NA
GSTM1	HGNC:4632	MGI:95861	-	-	no	no	no	no	NA
GSTM2	HGNC:4634	MGI:1915562	-	-	no	no	no	no	NA
GSTM3	HGNC:4635	MGI:1309466	ORPHA:586	Cystic Fibrosis	yes	yes	yes	yes	24.175
GSTM4	HGNC:4636	MGI:95862	-	-	yes	no	no	no	NA
GSTO1	HGNC:13312	MGI:1342273	-	-	yes	no	no	no	NA
GSTO2	HGNC:23064	MGI:1915464	-	-	yes	no	no	no	NA
GSTT4	HGNC:26930	MGI:1923136	-	-	no	no	no	no	NA
GSTZ1	HGNC:4643	MGI:1341859	OMIM:617596	Maleylacetoacetate Isomerase Deficiency	yes	no	yes	no	NA
GSX1	HGNC:20374	MGI:95842	-	-	no	no	no	no	NA
GSX2	HGNC:24959	MGI:95843	OMIM:618646|ORPHA:319192	Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2|Diencephalic-Mesencephalic Junction Dysplasia	no	no	no	no	NA
GTDC1	HGNC:20887	MGI:2444269	-	-	no	no	no	no	NA
GTF2A1	HGNC:4646	MGI:1933277	-	-	yes	no	no	no	NA
GTF2A1L	HGNC:30727	MGI:1919078	-	-	yes	no	no	no	NA
GTF2A2	HGNC:4647	MGI:1933289	-	-	no	no	no	no	NA
GTF2B	HGNC:4648	MGI:2385191	-	-	yes	no	no	no	NA
GTF2E1	HGNC:4650	MGI:1921447	-	-	no	no	no	no	NA
GTF2E2	HGNC:4651	MGI:1915403	OMIM:616943|ORPHA:33364	Trichothiodystrophy 6, Nonphotosensitive|Trichothiodystrophy	yes	yes	yes	yes	23.53
GTF2F1	HGNC:4652	MGI:1923848	-	-	no	no	no	no	NA
GTF2F2	HGNC:4653	MGI:1915955	-	-	no	no	no	no	NA
GTF2H1	HGNC:4655	MGI:1277216	-	-	no	no	no	no	NA
GTF2H3	HGNC:4657	MGI:1277143	-	-	yes	no	no	no	NA
GTF2H4	HGNC:4658	MGI:1338799	-	-	no	no	no	no	NA
GTF2H5	HGNC:21157	MGI:107227	OMIM:616395|ORPHA:33364	Trichothiodystrophy 3, Photosensitive|Trichothiodystrophy	no	no	no	no	NA
GTF2I	HGNC:4659	MGI:1202722	ORPHA:904	Williams Syndrome	no	no	no	no	NA
GTF2IRD1	HGNC:4661	MGI:1861942	ORPHA:904	Williams Syndrome	no	no	no	no	NA
GTF3A	HGNC:4662	MGI:1913846	-	-	no	no	no	no	NA
GTF3C1	HGNC:4664	MGI:107887	-	-	yes	no	no	no	NA
GTF3C2	HGNC:4665	MGI:1919002	-	-	no	no	no	no	NA
GTF3C3	HGNC:4666	MGI:2138383	-	-	no	no	no	no	NA
GTF3C4	HGNC:4667	MGI:2138937	-	-	no	no	no	no	NA
GTF3C5	HGNC:4668	MGI:1917489	-	-	no	no	no	no	NA
GTF3C6	HGNC:20872	MGI:1914621	-	-	no	no	no	no	NA
GTPBP1	HGNC:4669	MGI:109443	-	-	no	no	no	no	NA
GTPBP10	HGNC:25106	MGI:2385599	-	-	yes	no	no	no	NA
GTPBP2	HGNC:4670	MGI:1860138	OMIM:617988	Jaberi-Elahi Syndrome	yes	yes	yes	yes	21.42
GTPBP3	HGNC:14880	MGI:1917609	OMIM:616198|ORPHA:444013	Combined Oxidative Phosphorylation Deficiency 23|Combined Oxidative Phosphorylation Defect Type 23	yes	yes	yes	no	NA
GTPBP4	HGNC:21535	MGI:1916487	-	-	yes	no	no	no	NA
GTPBP6	HGNC:30189	MGI:1306825	-	-	yes	no	no	no	NA
GTPBP8	HGNC:25007	MGI:1913317	-	-	no	no	no	no	NA
GTSE1	HGNC:13698	MGI:1352755	-	-	no	no	no	no	NA
GTSF1	HGNC:26565	MGI:1921424	-	-	no	no	no	no	NA
GTSF1L	HGNC:16198	MGI:1915486	-	-	yes	no	no	no	NA
GUCA1A	HGNC:4678	MGI:102770	OMIM:602093|ORPHA:1872|ORPHA:1871|ORPHA:75377	Cone Dystrophy 3|Cone Rod Dystrophy|Progressive Cone Dystrophy|Central Areolar Choroidal Dystrophy	no	no	no	no	NA
GUCA1B	HGNC:4679	MGI:1194489	OMIM:613827|ORPHA:791	Retinitis Pigmentosa 48|Retinitis Pigmentosa	no	no	no	no	NA
GUCA2A	HGNC:4682	MGI:102738	-	-	yes	no	no	no	NA
GUCA2B	HGNC:4683	MGI:1270851	-	-	no	no	no	no	NA
GUCD1	HGNC:14237	MGI:1916028	-	-	no	no	no	no	NA
GUCY1A1	HGNC:4685	MGI:1926562	OMIM:615750|ORPHA:401945	Moyamoya Disease 6 With Or Without Achalasia|Moyamoya Disease With Early-Onset Achalasia	no	no	no	no	NA
GUCY1A2	HGNC:4684	MGI:2660877	-	-	no	no	no	no	NA
GUCY1B1	HGNC:4687	MGI:1860604	-	-	no	no	no	no	NA
GUCY2C	HGNC:4688	MGI:106903	OMIM:614616|OMIM:614665|ORPHA:314373|ORPHA:314376|ORPHA:103908	Diarrhea 6|Meconium Ileus|Chronic Infantile Diarrhea Due To Guanylate Cyclase 2C Overactivity|Intestinal Obstruction In The Newborn Due To Guanylate Cyclase 2C Deficiency|Congenital Sodium Diarrhea	yes	no	yes	no	NA
GUCY2D	HGNC:4689	MGI:105123	OMIM:215500|OMIM:601777|OMIM:204000|OMIM:618555|ORPHA:1872|ORPHA:65|ORPHA:75377	Choroidal Dystrophy, Central Areolar, 1|Cone-Rod Dystrophy 6|Leber Congenital Amaurosis 1|Night Blindness, Congenital Stationary, Type1I|Cone Rod Dystrophy|Leber Congenital Amaurosis|Central Areolar Choroidal Dystrophy	no	no	no	no	NA
GUCY2F	HGNC:4691	MGI:105119	-	-	no	no	no	no	NA
GUF1	HGNC:25799	MGI:2140726	OMIM:617065|ORPHA:3451	Developmental And Epileptic Encephalopathy 40|Infantile Spasms Syndrome	no	no	no	no	NA
GUK1	HGNC:4693	MGI:95871	-	-	no	no	no	no	NA
GULP1	HGNC:18649	MGI:1920407	-	-	yes	no	no	no	NA
GUSB	HGNC:4696	MGI:95872	OMIM:253220|ORPHA:584	Mucopolysaccharidosis, Type Vii|Mucopolysaccharidosis Type 7	yes	yes	yes	no	NA
GXYLT1	HGNC:27482	MGI:2684933	-	-	yes	no	no	no	NA
GXYLT2	HGNC:33383	MGI:2682940	-	-	yes	no	no	no	NA
GYG1	HGNC:4699	MGI:1351614	OMIM:613507|OMIM:616199|ORPHA:263297|ORPHA:456369	Glycogen Storage Disease Xv|Polyglucosan Body Myopathy 2|Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency|Polyglucosan Body Myopathy Type 2	yes	yes	yes	yes	27.2
GYPA	HGNC:4702	MGI:95880	OMIM:111300|OMIM:611162	Blood Group, Mn|Malaria, Susceptibility To	no	no	no	no	NA
GYPC	HGNC:4704	MGI:1098566	OMIM:616089|OMIM:611162|ORPHA:288	Blood Group, Gerbich System|Malaria, Susceptibility To|Hereditary Elliptocytosis	yes	yes	yes	yes	36.67
GYS1	HGNC:4706	MGI:101805	OMIM:611556|ORPHA:137625	Glycogen Storage Disease 0, Muscle|Glycogen Storage Disease Due To Muscle And Heart Glycogen Synthase Deficiency	yes	yes	yes	no	NA
GYS2	HGNC:4707	MGI:2385254	OMIM:240600|ORPHA:2089	Glycogen Storage Disease 0, Liver|Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	yes	yes	yes	yes	49.195
GZF1	HGNC:15808	MGI:1921783	OMIM:617662|ORPHA:527450	Joint Laxity, Short Stature, And Myopia|Severe Myopia-Generalized Joint Laxity-Short Stature Syndrome	yes	yes	yes	yes	26.95
GZMA	HGNC:4708	MGI:109266	-	-	no	no	no	no	NA
GZMK	HGNC:4711	MGI:1298232	-	-	yes	no	no	no	NA
GZMM	HGNC:4712	MGI:99549	-	-	no	no	no	no	NA
H1-0	HGNC:4714	MGI:95893	-	-	yes	no	no	no	NA
H1-1	HGNC:4715	MGI:1931523	-	-	no	no	no	no	NA
H1-10	HGNC:4722	MGI:2685307	-	-	yes	no	no	no	NA
H1-2	HGNC:4716	MGI:1931526	-	-	no	no	no	no	NA
H1-3	HGNC:4717	MGI:107502	-	-	no	no	no	no	NA
H1-4	HGNC:4718	MGI:1931527	OMIM:617537|ORPHA:642763	Rahman Syndrome|Autosomal Dominant Intellectual Disability-Craniofacial Dysmorphism-Macrocephaly-Hypotonia Syndrome Due To H1-4 Mutation	yes	yes	yes	no	NA
H1-5	HGNC:4719	MGI:1861461	-	-	yes	no	no	no	NA
H1-6	HGNC:4720	MGI:1888530	-	-	no	no	no	no	NA
H1-7	HGNC:24893	MGI:1917319	-	-	no	no	no	no	NA
H1-8	HGNC:18463	MGI:2176207	-	-	yes	no	no	no	NA
H2AC1	HGNC:18729	MGI:2448285	-	-	no	no	no	no	NA
H2AC18	HGNC:4736	MGI:2448283	-	-	no	no	no	no	NA
H2AC20	HGNC:4738	MGI:2448316	-	-	no	no	no	no	NA
H2AC21	HGNC:20508	MGI:2448314	-	-	no	no	no	no	NA
H2AC25	HGNC:20507	MGI:2448458	-	-	no	no	no	no	NA
H2AJ	HGNC:14456	MGI:3606192	-	-	no	no	no	no	NA
H2AP	HGNC:18417	MGI:1914584	-	-	yes	no	no	no	NA
H2AX	HGNC:4739	MGI:102688	-	-	no	no	no	no	NA
H2AZ1	HGNC:4741	MGI:1888388	-	-	yes	no	no	no	NA
H2AZ2	HGNC:20664	MGI:1924855	-	-	no	no	no	no	NA
H2BC1	HGNC:18730	MGI:2448375	-	-	no	no	no	no	NA
H2BC11	HGNC:4761	MGI:2448415	-	-	yes	no	no	no	NA
H2BC18	HGNC:24700	MGI:2448413	-	-	no	no	no	no	NA
H3-3A	HGNC:4764	MGI:1097686	OMIM:619720	Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	no	no	no	no	NA
H6PD	HGNC:4795	MGI:2140356	OMIM:604931|ORPHA:168588	Cortisone Reductase Deficiency 1|Hyperandrogenism Due To Cortisone Reductase Deficiency	yes	yes	yes	no	NA
HAAO	HGNC:4796	MGI:1349444	OMIM:617660|ORPHA:521438	Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1|Congenital Vertebral-Cardiac-Renal Anomalies Syndrome	yes	yes	yes	no	NA
HABP2	HGNC:4798	MGI:1196378	OMIM:188050|OMIM:616535|ORPHA:319487	Thrombophilia Due To Thrombin Defect|Thyroid Cancer, Nonmedullary, 5|Familial Papillary Or Follicular Thyroid Carcinoma	no	no	no	no	NA
HABP4	HGNC:17062	MGI:1891713	-	-	no	no	no	no	NA
HACD1	HGNC:9639	MGI:1353592	OMIM:619967|ORPHA:2020	Congenital Myopathy 11|Congenital Fiber-Type Disproportion Myopathy	yes	yes	yes	yes	32.685
HACD2	HGNC:9640	MGI:1918007	-	-	no	no	no	no	NA
HACD3	HGNC:24175	MGI:1889341	-	-	yes	no	no	no	NA
HACD4	HGNC:20920	MGI:1914025	-	-	no	no	no	no	NA
HACE1	HGNC:21033	MGI:2446110	OMIM:616756|ORPHA:635|ORPHA:464282	Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures|Neuroblastoma|Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	yes	yes	yes	no	NA
HACL1	HGNC:17856	MGI:1929657	-	-	yes	no	no	no	NA
HADH	HGNC:4799	MGI:96009	OMIM:231530|OMIM:609975|ORPHA:71212	3-Hydroxyacyl-Coa Dehydrogenase Deficiency|Hyperinsulinemic Hypoglycemia, Familial, 4|Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	no	no	no	no	NA
HADHA	HGNC:4801	MGI:2135593	OMIM:609016|OMIM:609015|ORPHA:243367|ORPHA:746|ORPHA:5	Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency|Mitochondrial Trifunctional Protein Deficiency 1|Acute Fatty Liver Of Pregnancy|Mitochondrial Trifunctional Protein Deficiency|Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	no	no	no	no	NA
HADHB	HGNC:4803	MGI:2136381	OMIM:620300|ORPHA:746	Mitochondrial Trifunctional Protein Deficiency 2|Mitochondrial Trifunctional Protein Deficiency	yes	yes	yes	yes	36.405
HAGH	HGNC:4805	MGI:95745	OMIM:614033	Hydroxyacyl Glutathione Hydrolase Deficiency	yes	yes	yes	no	NA
HAGHL	HGNC:14177	MGI:1919877	-	-	no	no	no	no	NA
HAL	HGNC:4806	MGI:96010	OMIM:235800|ORPHA:2157	Histidinemia	no	no	no	no	NA
HAND1	HGNC:4807	MGI:103577	-	-	no	no	no	no	NA
HAND2	HGNC:4808	MGI:103580	ORPHA:154	Familial Isolated Dilated Cardiomyopathy	no	no	no	no	NA
HAO1	HGNC:4809	MGI:96011	-	-	no	no	no	no	NA
HAO2	HGNC:4810	MGI:96012	-	-	yes	no	no	no	NA
HAP1	HGNC:4812	MGI:1261831	-	-	yes	no	no	no	NA
HAPLN1	HGNC:2380	MGI:1337006	-	-	yes	no	no	no	NA
HAPLN2	HGNC:17410	MGI:2137300	-	-	no	no	no	no	NA
HAPLN3	HGNC:21446	MGI:1914916	-	-	yes	no	no	no	NA
HAPLN4	HGNC:31357	MGI:2679531	-	-	yes	no	no	no	NA
HAPSTR1	HGNC:30103	MGI:1916303	-	-	no	no	no	no	NA
HARBI1	HGNC:26522	MGI:2443194	-	-	no	no	no	no	NA
HARS1	HGNC:4816	MGI:108087	OMIM:616625|OMIM:614504|ORPHA:231183|ORPHA:488333	Charcot-Marie-Tooth Disease, Axonal, Type 2W|Usher Syndrome, Type Iiib|Usher Syndrome Type 3|Autosomal Dominant Charcot-Marie-Tooth Disease Type 2W	no	no	no	no	NA
HARS2	HGNC:4817	MGI:1918041	OMIM:614926|ORPHA:642976|ORPHA:642945	Perrault Syndrome 2|Perrault Syndrome Type 2|Perrault Syndrome Type 1	yes	yes	yes	yes	24.875
HAS1	HGNC:4818	MGI:106590	-	-	yes	no	no	no	NA
HAS2	HGNC:4819	MGI:107821	-	-	no	no	no	no	NA
HAS3	HGNC:4820	MGI:109599	-	-	yes	no	no	no	NA
HASPIN	HGNC:19682	MGI:1194498	-	-	no	no	no	no	NA
HAT1	HGNC:4821	MGI:96013	-	-	no	no	no	no	NA
HAUS1	HGNC:25174	MGI:2385076	-	-	no	no	no	no	NA
HAUS2	HGNC:25530	MGI:1913546	-	-	no	no	no	no	NA
HAUS3	HGNC:28719	MGI:2387633	-	-	no	no	no	no	NA
HAUS4	HGNC:20163	MGI:1261794	-	-	yes	no	no	no	NA
HAUS5	HGNC:29130	MGI:1919159	-	-	no	no	no	no	NA
HAUS6	HGNC:25948	MGI:1923389	-	-	no	no	no	no	NA
HAUS7	HGNC:32979	MGI:1920988	-	-	no	no	no	no	NA
HAUS8	HGNC:30532	MGI:1923728	-	-	no	no	no	no	NA
HAVCR2	HGNC:18437	MGI:2159682	OMIM:618398|ORPHA:86884	T-Cell Lymphoma, Subcutaneous Panniculitis-Like|Subcutaneous Panniculitis-Like T-Cell Lymphoma	yes	yes	yes	yes	42.83
HAX1	HGNC:16915	MGI:1346319	OMIM:610738|ORPHA:99749	Neutropenia, Severe Congenital, 3, Autosomal Recessive|Kostmann Syndrome	no	no	no	no	NA
HBE1	HGNC:4830	MGI:96027	-	-	no	no	no	no	NA
HBEGF	HGNC:3059	MGI:96070	-	-	no	no	no	no	NA
HBP1	HGNC:23200	MGI:894659	-	-	yes	no	no	no	NA
HBS1L	HGNC:4834	MGI:1891704	-	-	yes	no	no	no	NA
HBZ	HGNC:4835	MGI:96019	-	-	no	no	no	no	NA
HCAR1	HGNC:4532	MGI:2441671	-	-	yes	no	no	no	NA
HCCS	HGNC:4837	MGI:106911	OMIM:309801|ORPHA:2556	Linear Skin Defects With Multiple Congenital Anomalies 1|Microphthalmia With Linear Skin Defects Syndrome	no	no	no	no	NA
HCFC1	HGNC:4839	MGI:105942	OMIM:309541|ORPHA:777|ORPHA:369962	Methylmalonic Aciduria And Homocystinuria, Cblx Type|X-Linked Non-Syndromic Intellectual Disability|Methylmalonic Acidemia With Homocystinuria, Type Cblx	no	no	no	no	NA
HCFC1R1	HGNC:21198	MGI:2663619	-	-	no	no	no	no	NA
HCFC2	HGNC:24972	MGI:1915183	-	-	no	no	no	no	NA
HCK	HGNC:4840	MGI:96052	OMIM:620296	Autoinflammation With Pulmonary And Cutaneous Vasculitis	no	no	no	no	NA
HCLS1	HGNC:4844	MGI:104568	-	-	yes	no	no	no	NA
HCN1	HGNC:4845	MGI:1096392	OMIM:615871|OMIM:618482|ORPHA:442835|ORPHA:36387	Developmental And Epileptic Encephalopathy 24|Generalized Epilepsy With Febrile Seizures Plus, Type 10|Non-Specific Early-Onset Epileptic Encephalopathy|Generalized Epilepsy With Febrile Seizures-Plus	yes	yes	yes	yes	56.01
HCN2	HGNC:4846	MGI:1298210	OMIM:602477	Epilepsy, Idiopathic Generalized, Susceptibility To, 17	no	no	no	no	NA
HCN3	HGNC:19183	MGI:1298211	-	-	no	no	no	no	NA
HCN4	HGNC:16882	MGI:1298209	OMIM:613123|OMIM:163800|OMIM:619521|ORPHA:166282|ORPHA:130	Brugada Syndrome 8|Sick Sinus Syndrome 2|Epilepsy, Idiopathic Generalized, Susceptibility To, 18|Familial Sick Sinus Syndrome|Brugada Syndrome	yes	no	yes	no	NA
HCRT	HGNC:4847	MGI:1202306	OMIM:161400|ORPHA:2073|ORPHA:83465	Narcolepsy 1|Narcolepsy Type 1|Narcolepsy Type 2	yes	yes	yes	yes	32.15
HCRTR1	HGNC:4848	MGI:2385650	-	-	no	no	no	no	NA
HCRTR2	HGNC:4849	MGI:2680765	-	-	no	no	no	no	NA
HCST	HGNC:16977	MGI:1344360	-	-	yes	no	no	no	NA
HDAC1	HGNC:4852	MGI:108086	-	-	yes	no	no	no	NA
HDAC10	HGNC:18128	MGI:2158340	-	-	yes	no	no	no	NA
HDAC11	HGNC:19086	MGI:2385252	-	-	yes	no	no	no	NA
HDAC2	HGNC:4853	MGI:1097691	-	-	yes	no	no	no	NA
HDAC3	HGNC:4854	MGI:1343091	-	-	yes	no	no	no	NA
HDAC4	HGNC:14063	MGI:3036234	OMIM:619797|ORPHA:1001	Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies|2Q37 Microdeletion Syndrome	yes	yes	yes	no	NA
HDAC5	HGNC:14068	MGI:1333784	-	-	no	no	no	no	NA
HDAC6	HGNC:14064	MGI:1333752	OMIM:300863|ORPHA:163966	Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia|X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	no	no	no	no	NA
HDAC7	HGNC:14067	MGI:1891835	-	-	yes	no	no	no	NA
HDAC8	HGNC:13315	MGI:1917565	OMIM:300882|ORPHA:199|ORPHA:3459	Cornelia De Lange Syndrome 5|Cornelia De Lange Syndrome|Wilson-Turner Syndrome	yes	yes	yes	yes	20.375
HDAC9	HGNC:14065	MGI:1931221	OMIM:620457	Auriculocondylar Syndrome 4	no	no	no	no	NA
HDC	HGNC:4855	MGI:96062	OMIM:137580|ORPHA:856	Gilles De La Tourette Syndrome|Non Rare In Europe: Tourette Syndrome	no	no	no	no	NA
HDDC2	HGNC:21078	MGI:1916942	-	-	yes	no	no	no	NA
HDDC3	HGNC:30522	MGI:1915945	-	-	yes	no	no	no	NA
HDGF	HGNC:4856	MGI:1194494	-	-	no	no	no	no	NA
HDGFL1	HGNC:21095	MGI:1194493	-	-	yes	no	no	no	NA
HDGFL2	HGNC:14680	MGI:1194492	-	-	yes	no	no	no	NA
HDGFL3	HGNC:24937	MGI:1352760	-	-	yes	no	no	no	NA
HDHD2	HGNC:25364	MGI:1924237	-	-	no	no	no	no	NA
HDHD3	HGNC:28171	MGI:1919998	-	-	no	no	no	no	NA
HDHD5	HGNC:1843	MGI:2136976	-	-	no	no	no	no	NA
HDLBP	HGNC:4857	MGI:99256	-	-	yes	no	no	no	NA
HDX	HGNC:26411	MGI:2685226	-	-	no	no	no	no	NA
HEATR1	HGNC:25517	MGI:2442524	-	-	no	no	no	no	NA
HEATR3	HGNC:26087	MGI:2444491	OMIM:620072|ORPHA:124	Diamond-Blackfan Anemia 21|Diamond-Blackfan Anemia	no	no	no	no	NA
HEATR4	HGNC:16761	MGI:4937307	-	-	no	no	no	no	NA
HEATR5A	HGNC:20276	MGI:2444133	-	-	no	no	no	no	NA
HEATR5B	HGNC:29273	MGI:2444098	-	-	no	no	no	no	NA
HEATR6	HGNC:24076	MGI:1919790	-	-	no	no	no	no	NA
HEATR9	HGNC:26548	MGI:3650286	-	-	no	no	no	no	NA
HEBP1	HGNC:17176	MGI:1333880	-	-	yes	no	no	no	NA
HEBP2	HGNC:15716	MGI:1860084	-	-	no	no	no	no	NA
HECA	HGNC:21041	MGI:2685715	-	-	yes	no	no	no	NA
HECTD1	HGNC:20157	MGI:2384768	-	-	yes	no	no	no	NA
HECTD2	HGNC:26736	MGI:2442663	-	-	yes	no	no	no	NA
HECTD3	HGNC:26117	MGI:1923858	-	-	yes	no	no	no	NA
HECTD4	HGNC:26611	MGI:3647820	OMIM:620250	Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	yes	yes	yes	no	NA
HECW1	HGNC:22195	MGI:2444115	-	-	yes	no	no	no	NA
HECW2	HGNC:29853	MGI:2685817	OMIM:617268	Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	yes	yes	yes	no	NA
HEG1	HGNC:29227	MGI:1924696	-	-	yes	no	no	no	NA
HELB	HGNC:17196	MGI:2152895	-	-	no	no	no	no	NA
HELLS	HGNC:4861	MGI:106209	OMIM:616911|ORPHA:2268	Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4|Icf Syndrome	yes	yes	yes	yes	31.19
HELQ	HGNC:18536	MGI:2176740	-	-	yes	no	no	no	NA
HELT	HGNC:33783	MGI:3040955	-	-	no	no	no	no	NA
HELZ	HGNC:16878	MGI:1925705	-	-	yes	no	no	no	NA
HELZ2	HGNC:30021	MGI:2385169	-	-	no	no	no	no	NA
HEMGN	HGNC:17509	MGI:2136910	-	-	yes	no	no	no	NA
HEMK1	HGNC:24923	MGI:1916786	-	-	yes	no	no	no	NA
HENMT1	HGNC:26400	MGI:1913965	-	-	no	no	no	no	NA
HEPACAM	HGNC:26361	MGI:1920177	OMIM:613925|OMIM:613926|ORPHA:210548|ORPHA:2478	Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A|Megalencephalic Leukoencephalopathy With Subcortical Cysts 2B, Remitting, With Or Without Impaired Intellectual Development|Macrocephaly-Intellectual Disability-Autism Syndrome|Megalencephalic Leukoencephalopathy With Subcortical Cysts	no	no	no	no	NA
HEPACAM2	HGNC:27364	MGI:2141520	-	-	yes	no	no	no	NA
HEPH	HGNC:4866	MGI:1332240	-	-	yes	no	no	no	NA
HEPHL1	HGNC:30477	MGI:2685355	OMIM:261990	Abnormal Hair, Joint Laxity, And Developmental Delay	no	no	no	no	NA
HERC1	HGNC:4867	MGI:2384589	OMIM:617011|ORPHA:457359	Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation|Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	yes	yes	yes	yes	36.8
HERC2	HGNC:4868	MGI:103234	OMIM:615516|OMIM:227220|ORPHA:329195	Intellectual Developmental Disorder, Autosomal Recessive 38|Skin/Hair/Eye Pigmentation, Variation In, 1|Developmental Delay With Autism Spectrum Disorder And Gait Instability	no	no	no	no	NA
HERC3	HGNC:4876	MGI:1921248	-	-	yes	no	no	no	NA
HERC4	HGNC:24521	MGI:1914595	-	-	yes	no	no	no	NA
HERC6	HGNC:26072	MGI:1914388	-	-	yes	no	no	no	NA
HERPUD1	HGNC:13744	MGI:1927406	-	-	no	no	no	no	NA
HERPUD2	HGNC:21915	MGI:1915393	-	-	yes	no	no	no	NA
HES1	HGNC:5192	MGI:104853	-	-	no	no	no	no	NA
HES2	HGNC:16005	MGI:1098624	-	-	no	no	no	no	NA
HES3	HGNC:26226	MGI:104877	-	-	no	no	no	no	NA
HES5	HGNC:19764	MGI:104876	-	-	no	no	no	no	NA
HES6	HGNC:18254	MGI:1859852	-	-	no	no	no	no	NA
HES7	HGNC:15977	MGI:2135679	OMIM:613686|ORPHA:2311	Spondylocostal Dysostosis 4, Autosomal Recessive|Autosomal Recessive Spondylocostal Dysostosis	no	no	no	no	NA
HESX1	HGNC:4877	MGI:96071	OMIM:182230|ORPHA:3157|ORPHA:478|ORPHA:226307|ORPHA:95496|ORPHA:95494	Septooptic Dysplasia|Septo-Optic Dysplasia Spectrum|Kallmann Syndrome|Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function|Pituitary Stalk Interruption Syndrome|Combined Pituitary Hormone Deficiencies, Genetic Forms	yes	yes	yes	yes	40.93
HEXA	HGNC:4878	MGI:96073	OMIM:272800|ORPHA:309185|ORPHA:309178|ORPHA:309239|ORPHA:309192	Tay-Sachs Disease|Tay-Sachs Disease, B Variant, Juvenile Form|Tay-Sachs Disease, B Variant, Infantile Form|Tay-Sachs Disease, B1 Variant|Tay-Sachs Disease, B Variant, Adult Form	no	no	no	no	NA
HEXB	HGNC:4879	MGI:96074	OMIM:268800|ORPHA:309155|ORPHA:309169|ORPHA:309162	Sandhoff Disease|Sandhoff Disease, Infantile Form|Sandhoff Disease, Adult Form|Sandhoff Disease, Juvenile Form	yes	yes	yes	yes	72.04
HEXD	HGNC:26307	MGI:3605542	-	-	no	no	no	no	NA
HEXIM1	HGNC:24953	MGI:2385923	-	-	no	no	no	no	NA
HEXIM2	HGNC:28591	MGI:1918309	-	-	no	no	no	no	NA
HEY1	HGNC:4880	MGI:1341800	-	-	no	no	no	no	NA
HEY2	HGNC:4881	MGI:1341884	ORPHA:91387	Familial Thoracic Aortic Aneurysm And Aortic Dissection	no	no	no	no	NA
HEYL	HGNC:4882	MGI:1860511	-	-	yes	no	no	no	NA
HFE	HGNC:4886	MGI:109191	OMIM:235200|ORPHA:586|ORPHA:139498|ORPHA:465508|ORPHA:443057|ORPHA:443062|ORPHA:648581	Hemochromatosis, Type 1|Cystic Fibrosis|Non Rare In Europe: Hemochromatosis Type 1|Symptomatic Form Of Hfe-Related Hemochromatosis|Sporadic Porphyria Cutanea Tarda|Familial Porphyria Cutanea Tarda|Digenic Hemochromatosis	no	no	no	no	NA
HFM1	HGNC:20193	MGI:3036246	OMIM:615724|ORPHA:619	Premature Ovarian Failure 9|Non Rare In Europe: Primary Ovarian Failure	no	no	no	no	NA
HGD	HGNC:4892	MGI:96078	OMIM:203500|ORPHA:56	Alkaptonuria	yes	no	yes	no	NA
HGF	HGNC:4893	MGI:96079	OMIM:608265|ORPHA:90636	Deafness, Autosomal Recessive 39|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	no	no	no	no	NA
HGFAC	HGNC:4894	MGI:1859281	-	-	no	no	no	no	NA
HGH1	HGNC:24161	MGI:1930628	-	-	no	no	no	no	NA
HGS	HGNC:4897	MGI:104681	-	-	yes	no	no	no	NA
HGSNAT	HGNC:26527	MGI:1196297	OMIM:252930|OMIM:616544|ORPHA:791|ORPHA:79271	Mucopolysaccharidosis, Type Iiic|Retinitis Pigmentosa 73|Retinitis Pigmentosa|Sanfilippo Syndrome Type C	yes	yes	yes	yes	33.395
HHAT	HGNC:18270	MGI:2444681	OMIM:600092|ORPHA:1422	Nivelon-Nivelon-Mabille Syndrome|Chondrodysplasia-Difference Of Sex Development Syndrome	no	no	no	no	NA
HHATL	HGNC:13242	MGI:1922020	-	-	yes	no	no	no	NA
HHEX	HGNC:4901	MGI:96086	-	-	no	no	no	no	NA
HHIP	HGNC:14866	MGI:1341847	-	-	yes	no	no	no	NA
HHIPL1	HGNC:19710	MGI:1919265	-	-	yes	no	no	no	NA
HHIPL2	HGNC:25842	MGI:1926022	-	-	no	no	no	no	NA
HHLA1	HGNC:4904	MGI:3615329	-	-	no	no	no	no	NA
HIBADH	HGNC:4907	MGI:1889802	-	-	yes	no	no	no	NA
HIBCH	HGNC:4908	MGI:1923792	OMIM:250620|ORPHA:88639	3-Hydroxyisobutyryl-Coa Hydrolase Deficiency|Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	yes	yes	yes	yes	12.345
HIC1	HGNC:4909	MGI:1338010	ORPHA:531	Miller-Dieker Syndrome	no	no	no	no	NA
HIC2	HGNC:18595	MGI:1929869	-	-	no	no	no	no	NA
HID1	HGNC:15736	MGI:2445087	OMIM:619983	Developmental And Epileptic Encephalopathy 105 With Hypopituitarism	no	no	no	no	NA
HIF1A	HGNC:4910	MGI:106918	-	-	no	no	no	no	NA
HIF1AN	HGNC:17113	MGI:2442345	-	-	yes	no	no	no	NA
HIF3A	HGNC:15825	MGI:1859778	-	-	no	no	no	no	NA
HIGD1A	HGNC:29527	MGI:1930666	-	-	no	no	no	no	NA
HIGD1B	HGNC:24318	MGI:1922939	-	-	no	no	no	no	NA
HIGD1C	HGNC:28044	MGI:2685767	-	-	no	no	no	no	NA
HIKESHI	HGNC:26938	MGI:96738	OMIM:616881|ORPHA:495844	Leukodystrophy, Hypomyelinating, 13|C11Orf73-Related Autosomal Recessive Hypomyelinating Leukodystrophy	yes	yes	yes	no	NA
HILPDA	HGNC:28859	MGI:1916823	-	-	yes	no	no	no	NA
HINFP	HGNC:17850	MGI:2429620	-	-	no	no	no	no	NA
HINT1	HGNC:4912	MGI:1321133	OMIM:137200|ORPHA:324442	Neuromyotonia And Axonal Neuropathy, Autosomal Recessive|Autosomal Recessive Axonal Neuropathy With Neuromyotonia	yes	yes	yes	yes	36.65
HINT2	HGNC:18344	MGI:1916167	-	-	no	no	no	no	NA
HINT3	HGNC:18468	MGI:1914097	-	-	no	no	no	no	NA
HIP1	HGNC:4913	MGI:1099804	-	-	yes	no	no	no	NA
HIP1R	HGNC:18415	MGI:1352504	-	-	yes	no	no	no	NA
HIPK1	HGNC:19006	MGI:1314873	-	-	no	no	no	no	NA
HIPK2	HGNC:14402	MGI:1314872	-	-	yes	no	no	no	NA
HIPK3	HGNC:4915	MGI:1314882	-	-	yes	no	no	no	NA
HIPK4	HGNC:19007	MGI:2685008	-	-	yes	no	no	no	NA
HIRA	HGNC:4916	MGI:99430	ORPHA:567	22Q11.2 Deletion Syndrome	yes	yes	yes	yes	19.785
HIRIP3	HGNC:4917	MGI:2142364	-	-	yes	no	no	no	NA
HIVEP1	HGNC:4920	MGI:96100	-	-	yes	no	no	no	NA
HIVEP2	HGNC:4921	MGI:1338076	OMIM:616977|ORPHA:178469	Intellectual Developmental Disorder, Autosomal Dominant 43|Autosomal Dominant Non-Syndromic Intellectual Disability	no	no	no	no	NA
HIVEP3	HGNC:13561	MGI:106589	-	-	no	no	no	no	NA
HJURP	HGNC:25444	MGI:2685821	-	-	no	no	no	no	NA
HJV	HGNC:4887	MGI:1916835	OMIM:602390|ORPHA:79230|ORPHA:648581	Hemochromatosis, Type 2A|Hjv Or Hamp-Related Hemochromatosis|Digenic Hemochromatosis	yes	yes	yes	yes	49.835
HK1	HGNC:4922	MGI:96103	OMIM:235700|OMIM:618547|OMIM:605285|OMIM:617460|ORPHA:90031|ORPHA:99953	Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency|Neurodevelopmental Disorder With Visual Defects And Brain Anomalies|Neuropathy, Hereditary Motor And Sensory, Russe Type|Retinitis Pigmentosa 79|Non-Spherocytic Hemolytic Anemia Due To Hexokinase Deficiency|Charcot-Marie-Tooth Disease Type 4G	no	no	no	no	NA
HK2	HGNC:4923	MGI:1315197	-	-	no	no	no	no	NA
HK3	HGNC:4925	MGI:2670962	-	-	yes	no	no	no	NA
HKDC1	HGNC:23302	MGI:2384910	OMIM:619614	Retinitis Pigmentosa 92	yes	yes	yes	no	NA
HLA-DMA	HGNC:4934	MGI:95921	-	-	no	no	no	no	NA
HLA-DOA	HGNC:4936	MGI:95924	-	-	no	no	no	no	NA
HLA-DOB	HGNC:4937	MGI:95925	-	-	no	no	no	no	NA
HLCS	HGNC:4976	MGI:894646	OMIM:253270|ORPHA:79242	Holocarboxylase Synthetase Deficiency	yes	yes	yes	yes	21.575
HLF	HGNC:4977	MGI:96108	ORPHA:641375	B-Lymphoblastic Leukemia/Lymphoma With T(17;19)	no	no	no	no	NA
HLTF	HGNC:11099	MGI:1196437	-	-	yes	no	no	no	NA
HLX	HGNC:4978	MGI:96109	ORPHA:527468	Diaphragmatic Hernia-Short Bowel-Asplenia Syndrome	no	no	no	no	NA
HM13	HGNC:16435	MGI:95886	-	-	yes	no	no	no	NA
HMBOX1	HGNC:26137	MGI:2445066	-	-	yes	no	no	no	NA
HMBS	HGNC:4982	MGI:96112	OMIM:176000|ORPHA:79276	Porphyria, Acute Intermittent|Acute Intermittent Porphyria	yes	yes	yes	yes	26.77
HMCES	HGNC:24446	MGI:1914053	-	-	no	no	no	no	NA
HMCN1	HGNC:19194	MGI:2685047	OMIM:603075|ORPHA:279	Macular Degeneration, Age-Related, 1|Non Rare In Europe: Age-Related Macular Degeneration	yes	yes	yes	yes	40.265
HMCN2	HGNC:21293	MGI:2677838	-	-	yes	no	no	no	NA
HMG20A	HGNC:5001	MGI:1914117	-	-	yes	no	no	no	NA
HMG20B	HGNC:5002	MGI:1341190	-	-	no	no	no	no	NA
HMGA1	HGNC:5010	MGI:96160	OMIM:125853	Type 2 Diabetes Mellitus	yes	yes	yes	no	NA
HMGA2	HGNC:5009	MGI:101761	OMIM:618908|ORPHA:454821|ORPHA:397590|ORPHA:94063|ORPHA:99971|ORPHA:99970	Silver-Russell Syndrome 5|Pleomorphic Salivary Gland Adenoma|Silver-Russell Syndrome Due To A Point Mutation|12Q14 Microdeletion Syndrome|Well-Differentiated Liposarcoma|Dedifferentiated Liposarcoma	no	no	no	no	NA
HMGB1	HGNC:4983	MGI:96113	-	-	no	no	no	no	NA
HMGB2	HGNC:5000	MGI:96157	-	-	no	no	no	no	NA
HMGB3	HGNC:5004	MGI:1098219	OMIM:300915	Microphthalmia, Syndromic 13	no	no	no	no	NA
HMGB4	HGNC:24954	MGI:1916567	-	-	yes	no	no	no	NA
HMGCL	HGNC:5005	MGI:96158	OMIM:246450|ORPHA:20	3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency|3-Hydroxy-3-Methylglutaric Aciduria	no	no	no	no	NA
HMGCLL1	HGNC:21359	MGI:2446108	-	-	no	no	no	no	NA
HMGCR	HGNC:5006	MGI:96159	OMIM:620375|OMIM:620410	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28|Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 3	no	no	no	no	NA
HMGCS1	HGNC:5007	MGI:107592	-	-	yes	no	no	no	NA
HMGCS2	HGNC:5008	MGI:101939	OMIM:605911|ORPHA:35701	3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency|3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	yes	no	yes	no	NA
HMGN1	HGNC:4984	MGI:96120	-	-	yes	no	no	no	NA
HMGN2	HGNC:4986	MGI:96136	-	-	yes	no	no	no	NA
HMGN3	HGNC:12312	MGI:2138069	-	-	no	no	no	no	NA
HMGN5	HGNC:8013	MGI:1355295	-	-	no	no	no	no	NA
HMGXB3	HGNC:28982	MGI:2441817	-	-	yes	no	no	no	NA
HMGXB4	HGNC:5003	MGI:1918073	-	-	no	no	no	no	NA
HMMR	HGNC:5012	MGI:104667	OMIM:114480	Breast Cancer	yes	yes	yes	no	NA
HMOX1	HGNC:5013	MGI:96163	OMIM:606963|OMIM:614034|ORPHA:586|ORPHA:562509	Pulmonary Disease, Chronic Obstructive|Heme Oxygenase 1 Deficiency|Cystic Fibrosis|Heme Oxygenase-1 Deficiency	yes	yes	yes	yes	31.025
HMOX2	HGNC:5014	MGI:109373	-	-	yes	no	no	no	NA
HMX1	HGNC:5017	MGI:107178	OMIM:612109|ORPHA:157962	Oculoauricular Syndrome|Oculoauricular Syndrome, Schorderet Type	no	no	no	no	NA
HMX2	HGNC:5018	MGI:107159	-	-	yes	no	no	no	NA
HMX3	HGNC:5019	MGI:107160	-	-	yes	no	no	no	NA
HNF1A	HGNC:11621	MGI:98504	OMIM:144700|OMIM:612520|OMIM:125853|OMIM:142330|OMIM:600496|OMIM:222100|ORPHA:324575|ORPHA:319303|ORPHA:404511|ORPHA:552	Renal Cell Carcinoma, Nonpapillary|Type 1 Diabetes Mellitus 20|Type 2 Diabetes Mellitus|Hepatic Adenomas, Familial|Maturity-Onset Diabetes Of The Young, Type 3|Type 1 Diabetes Mellitus|Hyperinsulinism Due To Hnf1A Deficiency|Chromophobe Renal Cell Carcinoma|Clear Cell Papillary Renal Cell Carcinoma|Mody	no	no	no	no	NA
HNF1B	HGNC:11630	MGI:98505	OMIM:144700|OMIM:125853|OMIM:137920|ORPHA:1331|ORPHA:2578|ORPHA:261265|ORPHA:1309|ORPHA:93111|ORPHA:93172|ORPHA:93173|ORPHA:97363|ORPHA:97364	Renal Cell Carcinoma, Nonpapillary|Type 2 Diabetes Mellitus|Renal Cysts And Diabetes Syndrome|Familial Prostate Cancer|Mayer-Rokitansky-Küster-Hauser Syndrome Type 2|17Q12 Microdeletion Syndrome|Medullary Sponge Kidney|Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease|Renal Dysplasia, Unilateral|Renal Dysplasia, Bilateral|Unilateral Multicystic Dysplastic Kidney|Bilateral Multicystic Dysplastic Kidney	no	no	no	no	NA
HNF4A	HGNC:5024	MGI:109128	OMIM:125853|OMIM:616026|OMIM:125850|ORPHA:263455|ORPHA:552|ORPHA:544628	Type 2 Diabetes Mellitus|Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young|Maturity-Onset Diabetes Of The Young, Type 1|Congenital Hyperinsulinism Due To Hnf4A Deficiency|Mody|Atypical Fanconi Syndrome-Neonatal Hyperinsulinism Syndrome	yes	yes	yes	yes	80.025
HNF4G	HGNC:5026	MGI:1353604	-	-	yes	no	no	no	NA
HNMT	HGNC:5028	MGI:2153181	OMIM:616739|OMIM:600807|ORPHA:88616	Intellectual Developmental Disorder, Autosomal Recessive 51|Asthma, Susceptibility To|Autosomal Recessive Non-Syndromic Intellectual Disability	no	no	no	no	NA
HNRNPA0	HGNC:5030	MGI:1924384	-	-	no	no	no	no	NA
HNRNPA1	HGNC:5031	MGI:104820	OMIM:615424|OMIM:610099|OMIM:615426|ORPHA:803|ORPHA:52430	Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3|Myopathy, Distal, 3|Amyotrophic Lateral Sclerosis 20|Amyotrophic Lateral Sclerosis|Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	no	no	no	no	NA
HNRNPA2B1	HGNC:5033	MGI:104819	OMIM:615422|OMIM:620460|ORPHA:52430	Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2|Oculopharyngeal Muscular Dystrophy 2|Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	no	no	no	no	NA
HNRNPA3	HGNC:24941	MGI:1917171	-	-	no	no	no	no	NA
HNRNPAB	HGNC:5034	MGI:1330294	-	-	yes	no	no	no	NA
HNRNPD	HGNC:5036	MGI:101947	-	-	yes	no	no	no	NA
HNRNPDL	HGNC:5037	MGI:1355299	OMIM:609115|ORPHA:55596	Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3|Hnrnpdl-Related Limb-Girdle Muscular Dystrophy D3	yes	yes	yes	no	NA
HNRNPF	HGNC:5039	MGI:2138741	-	-	no	no	no	no	NA
HNRNPH1	HGNC:5041	MGI:1891925	OMIM:620083|ORPHA:99861	Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects|Precursor T-Cell Acute Lymphoblastic Leukemia	yes	yes	yes	no	NA
HNRNPH2	HGNC:5042	MGI:1201779	OMIM:300986	Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	yes	yes	yes	yes	31.74
HNRNPH3	HGNC:5043	MGI:1926462	-	-	no	no	no	no	NA
HNRNPK	HGNC:5044	MGI:99894	OMIM:616580|ORPHA:352665|ORPHA:453504	Au-Kline Syndrome|Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion|Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	no	no	no	no	NA
HNRNPL	HGNC:5045	MGI:104816	-	-	no	no	no	no	NA
HNRNPLL	HGNC:25127	MGI:1919942	-	-	no	no	no	no	NA
HNRNPM	HGNC:5046	MGI:1926465	-	-	yes	no	no	no	NA
HNRNPR	HGNC:5047	MGI:1891692	OMIM:620073	Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	yes	yes	yes	yes	23.96
HNRNPU	HGNC:5048	MGI:1858195	OMIM:617391|ORPHA:238769	Developmental And Epileptic Encephalopathy 54|1Q44 Microdeletion Syndrome	no	no	no	no	NA
HNRNPUL1	HGNC:17011	MGI:2443517	-	-	no	no	no	no	NA
HNRNPUL2	HGNC:25451	MGI:1915943	-	-	yes	no	no	no	NA
HOATZ	HGNC:25061	MGI:1921013	-	-	no	no	no	no	NA
HOGA1	HGNC:25155	MGI:1914682	OMIM:613616|ORPHA:93600	Hyperoxaluria, Primary, Type Iii|Primary Hyperoxaluria Type 3	yes	yes	yes	no	NA
HOMER1	HGNC:17512	MGI:1347345	-	-	no	no	no	no	NA
HOMER2	HGNC:17513	MGI:1347354	OMIM:616707|ORPHA:90635	Deafness, Autosomal Dominant 68|Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	yes	yes	yes	yes	35.585
HOMER3	HGNC:17514	MGI:1347359	-	-	no	no	no	no	NA
HOMEZ	HGNC:20164	MGI:2678023	-	-	yes	no	no	no	NA
HOOK1	HGNC:19884	MGI:1925213	-	-	yes	no	no	no	NA
HOOK2	HGNC:19885	MGI:2181664	-	-	yes	no	no	no	NA
HOOK3	HGNC:23576	MGI:2443554	-	-	yes	no	no	no	NA
HOPX	HGNC:24961	MGI:1916782	-	-	no	no	no	no	NA
HORMAD1	HGNC:25245	MGI:1915231	-	-	no	no	no	no	NA
HORMAD2	HGNC:28383	MGI:1923078	-	-	no	no	no	no	NA
HOXA1	HGNC:5099	MGI:96170	OMIM:601536|ORPHA:69737|ORPHA:69739	Athabaskan Brainstem Dysgenesis Syndrome|Bosley-Salih-Alorainy Syndrome	no	no	no	no	NA
HOXA10	HGNC:5100	MGI:96171	-	-	yes	no	no	no	NA
HOXA11	HGNC:5101	MGI:96172	OMIM:605432|ORPHA:71289	Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1|Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	no	no	no	no	NA
HOXA13	HGNC:5102	MGI:96173	OMIM:176305|OMIM:140000|ORPHA:2438|ORPHA:2957	Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias|Hand-Foot-Genital Syndrome|Guttmacher Syndrome	no	no	no	no	NA
HOXA2	HGNC:5103	MGI:96174	OMIM:612290|ORPHA:140963|ORPHA:83463	Microtia, Hearing Impairment, And Cleft Palate|Bilateral Microtia-Deafness-Cleft Palate Syndrome|Microtia	yes	yes	yes	yes	21.91
HOXA3	HGNC:5104	MGI:96175	-	-	no	no	no	no	NA
HOXA4	HGNC:5105	MGI:96176	-	-	yes	no	no	no	NA
HOXA5	HGNC:5106	MGI:96177	-	-	no	no	no	no	NA
HOXA6	HGNC:5107	MGI:96178	-	-	no	no	no	no	NA
HOXA7	HGNC:5108	MGI:96179	-	-	no	no	no	no	NA
HOXA9	HGNC:5109	MGI:96180	-	-	no	no	no	no	NA
HOXB1	HGNC:5111	MGI:96182	OMIM:614744|ORPHA:306530	Facial Paresis, Hereditary Congenital, 3|Congenital Hereditary Facial Paralysis-Variable Hearing Loss Syndrome	no	no	no	no	NA
HOXB13	HGNC:5112	MGI:107730	OMIM:610997|ORPHA:1331	Prostate Cancer, Hereditary, 9|Familial Prostate Cancer	yes	yes	no	no	NA
HOXB2	HGNC:5113	MGI:96183	-	-	no	no	no	no	NA
HOXB3	HGNC:5114	MGI:96184	-	-	no	no	no	no	NA
HOXB4	HGNC:5115	MGI:96185	-	-	no	no	no	no	NA
HOXB5	HGNC:5116	MGI:96186	-	-	no	no	no	no	NA
HOXB6	HGNC:5117	MGI:96187	-	-	no	no	no	no	NA
HOXB7	HGNC:5118	MGI:96188	-	-	no	no	no	no	NA
HOXB8	HGNC:5119	MGI:96189	-	-	no	no	no	no	NA
HOXB9	HGNC:5120	MGI:96190	-	-	no	no	no	no	NA
HOXC10	HGNC:5122	MGI:96192	-	-	no	no	no	no	NA
HOXC11	HGNC:5123	MGI:96193	-	-	yes	no	no	no	NA
HOXC12	HGNC:5124	MGI:96194	-	-	yes	no	no	no	NA
HOXC13	HGNC:5125	MGI:99560	OMIM:614931|ORPHA:69084	Ectodermal Dysplasia 9, Hair/Nail Type|Pure Hair And Nail Ectodermal Dysplasia	no	no	no	no	NA
HOXC4	HGNC:5126	MGI:96195	-	-	no	no	no	no	NA
HOXC5	HGNC:5127	MGI:96196	-	-	no	no	no	no	NA
HOXC6	HGNC:5128	MGI:96197	-	-	no	no	no	no	NA
HOXC8	HGNC:5129	MGI:96198	-	-	no	no	no	no	NA
HOXC9	HGNC:5130	MGI:96199	-	-	no	no	no	no	NA
HOXD1	HGNC:5132	MGI:96201	-	-	no	no	no	no	NA
HOXD10	HGNC:5133	MGI:96202	OMIM:192950|ORPHA:295201|ORPHA:295203	Vertical Talus, Congenital|Congenital Vertical Talus, Unilateral|Congenital Vertical Talus, Bilateral	no	no	no	no	NA
HOXD11	HGNC:5134	MGI:96203	-	-	no	no	no	no	NA
HOXD12	HGNC:5135	MGI:96204	-	-	no	no	no	no	NA
HOXD13	HGNC:5136	MGI:96205	OMIM:610713|OMIM:113200|OMIM:113300|OMIM:186300|OMIM:186000|ORPHA:887|ORPHA:295195|ORPHA:295191|ORPHA:93406|ORPHA:93409|ORPHA:93387|ORPHA:93385	Brachydactyly-Syndactyly Syndrome|Brachydactyly, Type D|Brachydactyly, Type E1|Syndactyly, Type V|Synpolydactyly 1|Vacterl/Vater Association|Synpolydactyly Type 1|Zygodactyly Type 3|Syndactyly Type 5|Brachydactyly-Syndactyly, Zhao Type|Brachydactyly Type E|Non Rare In Europe: Brachydactyly Type D	no	no	no	no	NA
HOXD3	HGNC:5137	MGI:96207	-	-	no	no	no	no	NA
HOXD4	HGNC:5138	MGI:96208	-	-	no	no	no	no	NA
HOXD8	HGNC:5139	MGI:96209	-	-	no	no	no	no	NA
HOXD9	HGNC:5140	MGI:96210	-	-	no	no	no	no	NA
HP1BP3	HGNC:24973	MGI:109369	-	-	no	no	no	no	NA
HPCA	HGNC:5144	MGI:1336200	OMIM:224500|ORPHA:99657	Dystonia 2, Torsion, Autosomal Recessive|Primary Dystonia, Dyt2 Type	yes	yes	yes	yes	26.275
HPCAL1	HGNC:5145	MGI:1855689	-	-	no	no	no	no	NA
HPCAL4	HGNC:18212	MGI:2157521	-	-	yes	no	no	no	NA
HPD	HGNC:5147	MGI:96213	OMIM:140350|OMIM:276710|ORPHA:2118|ORPHA:69723	Hawkinsinuria|Tyrosinemia, Type Iii|Tyrosinemia Type 3	no	no	no	no	NA
HPDL	HGNC:28242	MGI:2444646	OMIM:619026|OMIM:619027|ORPHA:528084|ORPHA:631076|ORPHA:641353	Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities|Spastic Paraplegia 83, Autosomal Recessive|Non-Specific Syndromic Intellectual Disability|Autosomal Recessive Spastic Paraplegia Type 83|Infantile Neurodegeneration-Progressive Spasticity-Intellectual Disability-White Matter Lesions Syndrome	yes	yes	yes	yes	29.98
HPF1	HGNC:26051	MGI:1919862	-	-	yes	no	no	no	NA
HPGD	HGNC:5154	MGI:108085	OMIM:119900|OMIM:259100|ORPHA:1525|ORPHA:2796|ORPHA:217059	Digital Clubbing, Isolated Congenital|Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1|Cranio-Osteoarthropathy|Pachydermoperiostosis|Isolated Congenital Digital Clubbing	yes	yes	yes	no	NA
HPGDS	HGNC:17890	MGI:1859384	-	-	yes	no	no	no	NA
HPN	HGNC:5155	MGI:1196620	-	-	no	no	no	no	NA
HPRT1	HGNC:5157	MGI:96217	OMIM:300323|OMIM:300322|ORPHA:510|ORPHA:79233	Hyperuricemia, Hprt-Related|Lesch-Nyhan Syndrome|Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	yes	yes	yes	yes	43.83
HPS1	HGNC:5163	MGI:2177763	OMIM:203300|ORPHA:231500	Hermansky-Pudlak Syndrome 1|Hermansky-Pudlak Syndrome Due To Bloc-3 Deficiency	yes	no	yes	no	NA
HPS3	HGNC:15597	MGI:2153839	OMIM:614072|ORPHA:231512	Hermansky-Pudlak Syndrome 3|Hermansky-Pudlak Syndrome Due To Bloc-2 Deficiency	no	no	no	no	NA
HPS4	HGNC:15844	MGI:2177742	OMIM:614073|ORPHA:231500	Hermansky-Pudlak Syndrome 4|Hermansky-Pudlak Syndrome Due To Bloc-3 Deficiency	no	no	no	no	NA
HPS5	HGNC:17022	MGI:2180307	OMIM:614074|ORPHA:231512	Hermansky-Pudlak Syndrome 5|Hermansky-Pudlak Syndrome Due To Bloc-2 Deficiency	yes	yes	yes	yes	53.29
HPS6	HGNC:18817	MGI:2181763	OMIM:614075|ORPHA:231512	Hermansky-Pudlak Syndrome 6|Hermansky-Pudlak Syndrome Due To Bloc-2 Deficiency	yes	yes	yes	yes	41.48
HPSE	HGNC:5164	MGI:1343124	-	-	yes	no	no	no	NA
HPSE2	HGNC:18374	MGI:2685814	OMIM:236730|ORPHA:2704	Urofacial Syndrome 1|Ochoa Syndrome	yes	yes	yes	yes	25.11
HPX	HGNC:5171	MGI:105112	-	-	no	no	no	no	NA
HR	HGNC:5172	MGI:96223	OMIM:203655|OMIM:209500|ORPHA:701|ORPHA:444|ORPHA:86819	Alopecia Universalis Congenita|Atrichia With Papular Lesions|Alopecia Universalis|Marie Unna Hereditary Hypotrichosis	yes	yes	yes	yes	33.905
HRAS	HGNC:5173	MGI:96224	OMIM:109800|OMIM:218040|OMIM:162900|OMIM:137550|OMIM:163200|OMIM:188470|ORPHA:2612|ORPHA:3071|ORPHA:146|ORPHA:2874|ORPHA:79414	Bladder Cancer|Costello Syndrome|Nevus, Epidermal|Melanocytic Nevus Syndrome, Congenital|Schimmelpenning-Feuerstein-Mims Syndrome|Thyroid Cancer, Nonmedullary, 2|Linear Nevus Sebaceus Syndrome|Differentiated Thyroid Carcinoma|Phakomatosis Pigmentokeratotica|Woolly Hair Nevus	no	no	no	no	NA
HRC	HGNC:5178	MGI:96226	-	-	no	no	no	no	NA
HRCT1	HGNC:33872	MGI:1917945	-	-	no	no	no	no	NA
HRG	HGNC:5181	MGI:2146636	OMIM:613116|ORPHA:217467	Thrombophilia Due To Histidine-Rich Glycoprotein Deficiency|Hereditary Thrombophilia Due To Congenital Histidine-Rich (Poly-L) Glycoprotein Deficiency	no	no	no	no	NA
HRH1	HGNC:5182	MGI:107619	-	-	yes	no	no	no	NA
HRH2	HGNC:5183	MGI:108482	-	-	no	no	no	no	NA
HRH3	HGNC:5184	MGI:2139279	-	-	no	no	no	no	NA
HRH4	HGNC:17383	MGI:2429635	-	-	yes	no	no	no	NA
HRK	HGNC:5185	MGI:1201608	-	-	no	no	no	no	NA
HRNR	HGNC:20846	MGI:3046938	-	-	yes	no	no	no	NA
HROB	HGNC:28460	MGI:2387601	-	-	no	no	no	no	NA
HS1BP3	HGNC:24979	MGI:1913224	-	-	no	no	no	no	NA
HS2ST1	HGNC:5193	MGI:1346049	OMIM:619194|ORPHA:528084	Neurofacioskeletal Syndrome With Or Without Renal Agenesis|Non-Specific Syndromic Intellectual Disability	no	no	no	no	NA
HS3ST1	HGNC:5194	MGI:1201606	-	-	no	no	no	no	NA
HS3ST2	HGNC:5195	MGI:1333802	-	-	no	no	no	no	NA
HS3ST3A1	HGNC:5196	MGI:1333861	-	-	yes	no	no	no	NA
HS3ST3B1	HGNC:5198	MGI:1333853	-	-	yes	no	no	no	NA
HS3ST4	HGNC:5200	MGI:1333792	-	-	no	no	no	no	NA
HS3ST5	HGNC:19419	MGI:2441996	-	-	yes	no	no	no	NA
HS3ST6	HGNC:14178	MGI:3580487	OMIM:619367|ORPHA:599418	Angioedema, Hereditary, 8|Hereditary Angioedema With Normal C1Inh Not Related To F12 Or Plg Variant	no	no	no	no	NA
HS6ST1	HGNC:5201	MGI:1354958	OMIM:614880|ORPHA:478|ORPHA:432	Hypogonadotropic Hypogonadism 15 With Or Without Anosmia|Kallmann Syndrome|Normosmic Congenital Hypogonadotropic Hypogonadism	no	no	no	no	NA
HS6ST2	HGNC:19133	MGI:1354959	OMIM:301025	Paganini-Miozzo Syndrome	no	no	no	no	NA
HS6ST3	HGNC:19134	MGI:1354960	-	-	no	no	no	no	NA
HSBP1	HGNC:5203	MGI:1915446	-	-	no	no	no	no	NA
HSBP1L1	HGNC:37243	MGI:1913505	-	-	yes	no	no	no	NA
HSCB	HGNC:28913	MGI:2141135	OMIM:619523	Anemia, Sideroblastic, 5	no	no	no	no	NA
HSD11B1	HGNC:5208	MGI:103562	OMIM:614662|ORPHA:168588	Cortisone Reductase Deficiency 2|Hyperandrogenism Due To Cortisone Reductase Deficiency	no	no	no	no	NA
HSD11B2	HGNC:5209	MGI:104720	OMIM:218030|ORPHA:320	Apparent Mineralocorticoid Excess	no	no	no	no	NA
HSD17B1	HGNC:5210	MGI:105077	-	-	yes	no	no	no	NA
HSD17B10	HGNC:4800	MGI:1333871	OMIM:300438|ORPHA:391428|ORPHA:391457|ORPHA:85295	Hsd10 Mitochondrial Disease|Hsd10 Disease, Infantile Type|Hsd10 Disease, Neonatal Type|Hsd10 Disease, Atypical Type	no	no	no	no	NA
HSD17B11	HGNC:22960	MGI:2149821	-	-	yes	no	no	no	NA
HSD17B12	HGNC:18646	MGI:1926967	-	-	no	no	no	no	NA
HSD17B13	HGNC:18685	MGI:2140804	OMIM:620116	Fatty Liver Disease, Protection From	no	no	no	no	NA
HSD17B14	HGNC:23238	MGI:1913315	-	-	no	no	no	no	NA
HSD17B2	HGNC:5211	MGI:1096386	-	-	no	no	no	no	NA
HSD17B3	HGNC:5212	MGI:107177	OMIM:264300|ORPHA:752	17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency|46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	no	no	no	no	NA
HSD17B4	HGNC:5213	MGI:105089	OMIM:261515|OMIM:233400|ORPHA:300|ORPHA:642976|ORPHA:642945	D-Bifunctional Protein Deficiency|Perrault Syndrome 1|Bifunctional Enzyme Deficiency|Perrault Syndrome Type 2|Perrault Syndrome Type 1	yes	yes	yes	yes	41.16
HSD17B6	HGNC:23316	MGI:1351670	-	-	no	no	no	no	NA
HSD17B7	HGNC:5215	MGI:1330808	-	-	no	no	no	no	NA
HSD17B8	HGNC:3554	MGI:95911	-	-	yes	no	no	no	NA
HSD3B7	HGNC:18324	MGI:2141879	OMIM:607765|ORPHA:79301	Bile Acid Synthesis Defect, Congenital, 1|Congenital Bile Acid Synthesis Defect Type 1	no	no	no	no	NA
HSDL1	HGNC:16475	MGI:1919802	-	-	no	no	no	no	NA
HSDL2	HGNC:18572	MGI:1919729	-	-	yes	no	no	no	NA
HSF1	HGNC:5224	MGI:96238	-	-	yes	no	no	no	NA
HSF2	HGNC:5225	MGI:96239	-	-	yes	no	no	no	NA
HSF2BP	HGNC:5226	MGI:1921627	OMIM:619245	Premature Ovarian Failure 19	yes	yes	yes	yes	26.245
HSF4	HGNC:5227	MGI:1347058	OMIM:116800|ORPHA:441452|ORPHA:98994	Cataract 5, Multiple Types|Early-Onset Lamellar Cataract|Total Early-Onset Cataract	yes	yes	yes	yes	56.74
HSF5	HGNC:26862	MGI:2685585	-	-	yes	no	no	no	NA
HSH2D	HGNC:24920	MGI:2676364	-	-	no	no	no	no	NA
HSP90AA1	HGNC:5253	MGI:96250	-	-	yes	no	no	no	NA
HSP90AB1	HGNC:5258	MGI:96247	-	-	no	no	no	no	NA
HSP90B1	HGNC:12028	MGI:98817	-	-	no	no	no	no	NA
HSPA12A	HGNC:19022	MGI:1920692	-	-	no	no	no	no	NA
HSPA12B	HGNC:16193	MGI:1919880	-	-	yes	no	no	no	NA
HSPA13	HGNC:11375	MGI:1309463	-	-	no	no	no	no	NA
HSPA14	HGNC:29526	MGI:1354164	-	-	no	no	no	no	NA
HSPA1L	HGNC:5234	MGI:96231	-	-	no	no	no	no	NA
HSPA2	HGNC:5235	MGI:96243	-	-	no	no	no	no	NA
HSPA4	HGNC:5237	MGI:1342292	-	-	no	no	no	no	NA
HSPA4L	HGNC:17041	MGI:107422	-	-	no	no	no	no	NA
HSPA5	HGNC:5238	MGI:95835	-	-	yes	no	no	no	NA
HSPA8	HGNC:5241	MGI:105384	-	-	no	no	no	no	NA
HSPA9	HGNC:5244	MGI:96245	OMIM:182170|OMIM:616854|ORPHA:260305|ORPHA:496751	Anemia, Sideroblastic, 4|Even-Plus Syndrome|Autosomal Recessive Sideroblastic Anemia	no	no	no	no	NA
HSPB1	HGNC:5246	MGI:96240	OMIM:606595|OMIM:608634|ORPHA:139525|ORPHA:99940	Charcot-Marie-Tooth Disease, Axonal, Type 2F|Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3|Distal Hereditary Motor Neuropathy Type 2|Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F	yes	yes	yes	no	NA
HSPB2	HGNC:5247	MGI:1916503	-	-	yes	no	no	no	NA
HSPB3	HGNC:5248	MGI:1928479	OMIM:613376|ORPHA:139525	Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 4|Distal Hereditary Motor Neuropathy Type 2	yes	yes	yes	no	NA
HSPB6	HGNC:26511	MGI:2685325	-	-	yes	no	no	no	NA
HSPB7	HGNC:5249	MGI:1352494	-	-	no	no	no	no	NA
HSPB8	HGNC:30171	MGI:2135756	OMIM:608673|OMIM:158590|ORPHA:139525|ORPHA:476093|ORPHA:99945	Charcot-Marie-Tooth Disease, Axonal, Type 2L|Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2|Distal Hereditary Motor Neuropathy Type 2|Autosomal Dominant Distal Axonal Motor Neuropathy-Myofibrillar Myopathy Syndrome|Autosomal Dominant Charcot-Marie-Tooth Disease Type 2L	yes	yes	yes	no	NA
HSPB9	HGNC:30589	MGI:1922732	-	-	yes	no	no	no	NA
HSPBAP1	HGNC:16389	MGI:1913917	ORPHA:422526	Hereditary Clear Cell Renal Cell Carcinoma	yes	yes	no	no	NA
HSPBP1	HGNC:24989	MGI:1913495	-	-	no	no	no	no	NA
HSPD1	HGNC:5261	MGI:96242	OMIM:612233|OMIM:605280|ORPHA:280288|ORPHA:100994	Leukodystrophy, Hypomyelinating, 4|Spastic Paraplegia 13, Autosomal Dominant|Pelizaeus-Merzbacher-Like Disease Due To Hspd1 Mutation|Autosomal Dominant Spastic Paraplegia Type 13	yes	yes	yes	no	NA
HSPE1	HGNC:5269	MGI:104680	-	-	no	no	no	no	NA
HSPG2	HGNC:5273	MGI:96257	OMIM:224410|OMIM:255800|ORPHA:800|ORPHA:1606|ORPHA:1865	Dyssegmental Dysplasia, Silverman-Handmaker Type|Schwartz-Jampel Syndrome, Type 1|Schwartz-Jampel Syndrome|1P36 Deletion Syndrome	no	no	no	no	NA
HSPH1	HGNC:16969	MGI:105053	-	-	no	no	no	no	NA
HTATIP2	HGNC:16637	MGI:1859271	-	-	no	no	no	no	NA
HTATSF1	HGNC:5276	MGI:1919709	-	-	no	no	no	no	NA
HTR1A	HGNC:5286	MGI:96273	OMIM:614674|ORPHA:498251	Periodic Fever, Menstrual Cycle-Dependent|Menstrual Cycle-Dependent Periodic Fever	yes	no	yes	no	NA
HTR1B	HGNC:5287	MGI:96274	-	-	yes	no	no	no	NA
HTR1D	HGNC:5289	MGI:96276	-	-	yes	no	no	no	NA
HTR1F	HGNC:5292	MGI:99842	-	-	yes	no	no	no	NA
HTR2A	HGNC:5293	MGI:109521	OMIM:608516|OMIM:181500|OMIM:103780|OMIM:606788|OMIM:164230	Major Depressive Disorder|Schizophrenia|Alcohol Dependence|Anorexia Nervosa, Susceptibility To|Obsessive-Compulsive Disorder	no	no	no	no	NA
HTR2B	HGNC:5294	MGI:109323	-	-	yes	no	no	no	NA
HTR2C	HGNC:5295	MGI:96281	-	-	no	no	no	no	NA
HTR3A	HGNC:5297	MGI:96282	-	-	yes	no	no	no	NA
HTR3B	HGNC:5298	MGI:1861899	-	-	yes	no	no	no	NA
HTR4	HGNC:5299	MGI:109246	-	-	yes	no	no	no	NA
HTR5A	HGNC:5300	MGI:96283	-	-	no	no	no	no	NA
HTR6	HGNC:5301	MGI:1196627	-	-	no	no	no	no	NA
HTR7	HGNC:5302	MGI:99841	-	-	yes	no	no	no	NA
HTRA1	HGNC:9476	MGI:1929076	OMIM:600142|OMIM:616779|OMIM:610149|ORPHA:199354|ORPHA:252128|ORPHA:252212|ORPHA:279|ORPHA:482077	Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy|Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2|Macular Degeneration, Age-Related, 7|Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy|Malignant Peripheral Nerve Sheath Tumor With Perineurial Differentiation|Malignant Triton Tumor|Non Rare In Europe: Age-Related Macular Degeneration|Htra1-Related Autosomal Dominant Cerebral Small Vessel Disease	yes	no	yes	no	NA
HTRA2	HGNC:14348	MGI:1928676	OMIM:617248|OMIM:610297|ORPHA:2828|ORPHA:505208	3-Methylglutaconic Aciduria, Type Viii|Parkinson Disease 13, Autosomal Dominant, Susceptibility To|Young-Onset Parkinson Disease|3-Methylglutaconic Aciduria Type 8	yes	yes	yes	yes	19.55
HTRA3	HGNC:30406	MGI:1925808	-	-	yes	no	no	no	NA
HTRA4	HGNC:26909	MGI:3036260	-	-	yes	no	no	no	NA
HTT	HGNC:4851	MGI:96067	OMIM:143100|OMIM:617435|ORPHA:399|ORPHA:248111|ORPHA:528084	Huntington Disease|Lopes-Maciel-Rodan Syndrome|Juvenile Huntington Disease|Non-Specific Syndromic Intellectual Disability	yes	yes	yes	no	NA
HUNK	HGNC:13326	MGI:1347352	-	-	yes	no	no	no	NA
HUS1	HGNC:5309	MGI:1277962	-	-	no	no	no	no	NA
HUS1B	HGNC:16485	MGI:2671003	-	-	no	no	no	no	NA
HUWE1	HGNC:30892	MGI:1926884	OMIM:309590|ORPHA:528084	Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type|Non-Specific Syndromic Intellectual Disability	no	no	no	no	NA
HVCN1	HGNC:28240	MGI:1921346	-	-	no	no	no	no	NA
HYAL1	HGNC:5320	MGI:96298	OMIM:601492|ORPHA:67041	Mucopolysaccharidosis, Type Ix|Hyaluronidase Deficiency	no	no	no	no	NA
HYAL2	HGNC:5321	MGI:1196334	ORPHA:508476	Cleft Lip And Palate-Craniofacial Dysmorphism-Congenital Heart Defect-Hearing Loss Syndrome	no	no	no	no	NA
HYAL3	HGNC:5322	MGI:1330288	-	-	yes	no	no	no	NA
HYAL4	HGNC:5323	MGI:1924292	-	-	yes	no	no	no	NA
HYCC1	HGNC:24587	MGI:2149839	OMIM:610532|ORPHA:85163	Leukodystrophy, Hypomyelinating, 5|Hypomyelination-Congenital Cataract Syndrome	yes	yes	yes	no	NA
HYCC2	HGNC:28593	MGI:1098784	-	-	no	no	no	no	NA
HYDIN	HGNC:19368	MGI:2389007	OMIM:608647|ORPHA:244	Ciliary Dyskinesia, Primary, 5|Primary Ciliary Dyskinesia	no	no	no	no	NA
HYKK	HGNC:34403	MGI:2443139	-	-	no	no	no	no	NA
HYLS1	HGNC:26558	MGI:1924082	OMIM:236680|ORPHA:475|ORPHA:2189	Hydrolethalus Syndrome 1|Joubert Syndrome|Hydrolethalus	yes	yes	yes	yes	33.7
HYOU1	HGNC:16931	MGI:108030	OMIM:233600	Immunodeficiency 59 And Hypoglycemia	no	no	no	no	NA
HYPK	HGNC:18418	MGI:1914943	-	-	no	no	no	no	NA
IAH1	HGNC:27696	MGI:1914982	-	-	yes	no	no	no	NA
IAPP	HGNC:5329	MGI:96382	-	-	no	no	no	no	NA
IARS1	HGNC:5330	MGI:2145219	OMIM:617093|ORPHA:541423	Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy|Growth Delay-Intellectual Disability-Hepatopathy Syndrome	no	no	no	no	NA
IARS2	HGNC:29685	MGI:1919586	OMIM:616007|ORPHA:436174	Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia|Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	yes	yes	yes	no	NA
IBA57	HGNC:27302	MGI:3041174	OMIM:616451|OMIM:615330|ORPHA:363424|ORPHA:468661	Spastic Paraplegia 74, Autosomal Recessive|Multiple Mitochondrial Dysfunctions Syndrome 3|Multiple Mitochondrial Dysfunctions Syndrome Type 3|Autosomal Recessive Spastic Paraplegia Type 74	no	no	no	no	NA
IBSP	HGNC:5341	MGI:96389	-	-	no	no	no	no	NA
IBTK	HGNC:17853	MGI:1918677	-	-	yes	no	no	no	NA
ICA1	HGNC:5343	MGI:96391	-	-	yes	no	no	no	NA
ICA1L	HGNC:14442	MGI:1917625	-	-	yes	no	no	no	NA
ICAM1	HGNC:5344	MGI:96392	OMIM:611162	Malaria, Susceptibility To	no	no	no	no	NA
ICAM2	HGNC:5345	MGI:96394	-	-	yes	no	no	no	NA
ICAM4	HGNC:5347	MGI:1925619	OMIM:111250	Blood Group System, Landsteiner-Wiener	no	no	no	no	NA
ICAM5	HGNC:5348	MGI:109430	-	-	yes	no	no	no	NA
ICE1	HGNC:29154	MGI:2385865	-	-	no	no	no	no	NA
ICE2	HGNC:29885	MGI:2135947	-	-	no	no	no	no	NA
ICMT	HGNC:5350	MGI:1888594	-	-	no	no	no	no	NA
ICOS	HGNC:5351	MGI:1858745	OMIM:607594|ORPHA:1572	Immunodeficiency, Common Variable, 1|Common Variable Immunodeficiency	yes	yes	yes	no	NA
ICOSLG	HGNC:17087	MGI:1354701	-	-	no	no	no	no	NA
ID1	HGNC:5360	MGI:96396	-	-	no	no	no	no	NA
ID2	HGNC:5361	MGI:96397	-	-	yes	no	no	no	NA
ID3	HGNC:5362	MGI:96398	-	-	yes	no	no	no	NA
ID4	HGNC:5363	MGI:99414	-	-	no	no	no	no	NA
IDE	HGNC:5381	MGI:96412	-	-	yes	no	no	no	NA
IDH1	HGNC:5382	MGI:96413	OMIM:137800|ORPHA:163634|ORPHA:296|ORPHA:251576|ORPHA:251579|ORPHA:86845|ORPHA:99646	Glioma Susceptibility 1|Maffucci Syndrome|Ollier Disease|Gliosarcoma|Giant Cell Glioblastoma|Acute Myeloid Leukaemia With Myelodysplasia-Related Features|Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	yes	yes	yes	no	NA
IDH2	HGNC:5383	MGI:96414	OMIM:613657|ORPHA:163634|ORPHA:296|ORPHA:251630|ORPHA:251656|ORPHA:251663|ORPHA:251589|ORPHA:251598|ORPHA:251604|ORPHA:251601|ORPHA:251627|ORPHA:79315|ORPHA:86845	D-2-Hydroxyglutaric Aciduria 2|Maffucci Syndrome|Ollier Disease|Anaplastic Oligodendroglioma|Oligoastrocytoma|Anaplastic Oligoastrocytoma|Anaplastic Astrocytoma|Protoplasmic Astrocytoma|Gemistocytic Astrocytoma|Fibrillary Astrocytoma|Oligodendroglioma|D-2-Hydroxyglutaric Aciduria|Acute Myeloid Leukaemia With Myelodysplasia-Related Features	yes	yes	yes	yes	39.165
IDH3A	HGNC:5384	MGI:1915084	OMIM:619007|ORPHA:791	Retinitis Pigmentosa 90|Retinitis Pigmentosa	yes	yes	yes	no	NA
IDH3B	HGNC:5385	MGI:2158650	OMIM:612572|ORPHA:791	Retinitis Pigmentosa 46|Retinitis Pigmentosa	yes	yes	yes	yes	22.01
IDH3G	HGNC:5386	MGI:1099463	-	-	yes	no	no	no	NA
IDI1	HGNC:5387	MGI:2442264	-	-	yes	no	no	no	NA
IDI2	HGNC:23487	MGI:2444315	-	-	no	no	no	no	NA
IDNK	HGNC:31367	MGI:1922981	-	-	no	no	no	no	NA
IDO1	HGNC:6059	MGI:96416	-	-	yes	no	no	no	NA
IDO2	HGNC:27269	MGI:2142489	-	-	yes	no	no	no	NA
IDS	HGNC:5389	MGI:96417	OMIM:309900|ORPHA:217093|ORPHA:217085	Mucopolysaccharidosis, Type Ii|Mucopolysaccharidosis Type 2, Attenuated Form|Mucopolysaccharidosis Type 2, Severe Form	no	no	no	no	NA
IDUA	HGNC:5391	MGI:96418	OMIM:607014|OMIM:607015|OMIM:607016|ORPHA:93474|ORPHA:93476|ORPHA:93473	Hurler Syndrome|Hurler-Scheie Syndrome|Scheie Syndrome	no	no	no	no	NA
IER2	HGNC:28871	MGI:104815	-	-	yes	no	no	no	NA
IER3	HGNC:5392	MGI:104814	-	-	no	no	no	no	NA
IER3IP1	HGNC:18550	MGI:1913441	OMIM:614231|ORPHA:306558	Microcephaly, Epilepsy, And Diabetes Syndrome 1|Primary Microcephaly-Epilepsy-Permanent Neonatal Diabetes Syndrome	yes	yes	yes	no	NA
IER5	HGNC:5393	MGI:1337072	-	-	yes	no	no	no	NA
IER5L	HGNC:23679	MGI:1919750	-	-	yes	no	no	no	NA
IFFO1	HGNC:24970	MGI:2444516	-	-	no	no	no	no	NA
IFFO2	HGNC:27006	MGI:2140675	-	-	yes	no	no	no	NA
IFI27L2	HGNC:19753	MGI:1924183	-	-	yes	no	no	no	NA
IFI30	HGNC:5398	MGI:2137648	-	-	no	no	no	no	NA
IFI35	HGNC:5399	MGI:1917360	-	-	no	no	no	no	NA
IFI44	HGNC:16938	MGI:2443016	-	-	yes	no	no	no	NA
IFI44L	HGNC:17817	MGI:95975	-	-	yes	no	no	no	NA
IFIH1	HGNC:18873	MGI:1918836	OMIM:615846|OMIM:619773|OMIM:182250|ORPHA:51|ORPHA:85191	Aicardi-Goutieres Syndrome 7|Immunodeficiency 95|Singleton-Merten Syndrome 1|Aicardi-Goutières Syndrome|Singleton-Merten Dysplasia	yes	yes	yes	yes	16.54
IFIT2	HGNC:5409	MGI:99449	-	-	yes	no	no	no	NA
IFITM10	HGNC:40022	MGI:2444776	-	-	no	no	no	no	NA
IFITM5	HGNC:16644	MGI:1934923	OMIM:610967|ORPHA:216828	Osteogenesis Imperfecta, Type V|Osteogenesis Imperfecta Type 5	no	no	no	no	NA
IFNAR1	HGNC:5432	MGI:107658	OMIM:619935	Immunodeficiency 106, Susceptibility To Viral Infections	yes	yes	yes	no	NA
IFNAR2	HGNC:5433	MGI:1098243	OMIM:616669|OMIM:610424|ORPHA:431166	Immunodeficiency 45|Hepatitis B Virus, Susceptibility To|Primary Immunodeficiency With Post-Measles-Mumps-Rubella Vaccine Viral Infection	no	no	no	no	NA
IFNB1	HGNC:5434	MGI:107657	-	-	no	no	no	no	NA
IFNE	HGNC:18163	MGI:2667156	-	-	no	no	no	no	NA
IFNG	HGNC:5438	MGI:107656	OMIM:618963|OMIM:609135|OMIM:613254|OMIM:609423|OMIM:609532|OMIM:607948|ORPHA:805|ORPHA:88	Immunodeficiency 69|Aplastic Anemia|Tuberous Sclerosis 2|Human Immunodeficiency Virus Type 1, Susceptibility To|Hepatitis C Virus, Susceptibility To|Mycobacterium Tuberculosis, Susceptibility To|Tuberous Sclerosis Complex|Idiopathic Aplastic Anemia	yes	yes	yes	yes	42.46
IFNGR1	HGNC:5439	MGI:107655	OMIM:209950|OMIM:615978|OMIM:600263|OMIM:610424|OMIM:607948|ORPHA:117|ORPHA:319581|ORPHA:319569|ORPHA:99898	Immunodeficiency 27A|Immunodeficiency 27B|Helicobacter Pylori Infection, Susceptibility To|Hepatitis B Virus, Susceptibility To|Mycobacterium Tuberculosis, Susceptibility To|Behçet Disease|Autosomal Dominant Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Ifngammar1 Deficiency|Autosomal Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Ifngammar1 Deficiency|Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Ifngammar1 Deficiency	yes	yes	yes	yes	34.25
IFNGR2	HGNC:5440	MGI:107654	OMIM:614889|ORPHA:319547|ORPHA:319589|ORPHA:319574	Immunodeficiency 28|Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Ifngammar2 Deficiency|Autosomal Dominant Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Ifngammar2 Deficiency|Autosomal Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Ifngammar2 Deficiency	no	no	no	no	NA
IFNK	HGNC:21714	MGI:2683287	-	-	yes	no	no	no	NA
IFNLR1	HGNC:18584	MGI:2429859	-	-	yes	no	no	no	NA
IFRD1	HGNC:5456	MGI:1316717	ORPHA:98771	Spinocerebellar Ataxia Type 18	no	no	no	no	NA
IFRD2	HGNC:5457	MGI:1316708	-	-	no	no	no	no	NA
IFT122	HGNC:13556	MGI:1932386	OMIM:218330|ORPHA:1515|ORPHA:93268	Cranioectodermal Dysplasia 1|Cranioectodermal Dysplasia|Short Rib-Polydactyly Syndrome, Beemer-Langer Type	yes	yes	yes	yes	16.165
IFT140	HGNC:29077	MGI:2146906	OMIM:617781|OMIM:266920|ORPHA:474|ORPHA:791|ORPHA:730|ORPHA:140969|ORPHA:65	Retinitis Pigmentosa 80|Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly|Jeune Syndrome|Retinitis Pigmentosa|Autosomal Dominant Polycystic Kidney Disease|Saldino-Mainzer Syndrome|Leber Congenital Amaurosis	yes	no	yes	no	NA
IFT172	HGNC:30391	MGI:2682064	OMIM:619471|OMIM:616394|OMIM:615630|ORPHA:474|ORPHA:791|ORPHA:140969|ORPHA:110	Bardet-Biedl Syndrome 20|Retinitis Pigmentosa 71|Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly|Jeune Syndrome|Retinitis Pigmentosa|Saldino-Mainzer Syndrome|Bardet-Biedl Syndrome	yes	yes	yes	yes	50.36
IFT20	HGNC:30989	MGI:1915585	-	-	yes	no	no	no	NA
IFT22	HGNC:21895	MGI:1914536	-	-	yes	no	no	no	NA
IFT25	HGNC:25019	MGI:1920188	-	-	yes	no	no	no	NA
IFT27	HGNC:18626	MGI:1914292	OMIM:615996|ORPHA:110	Bardet-Biedl Syndrome 19|Bardet-Biedl Syndrome	no	no	no	no	NA
IFT43	HGNC:29669	MGI:1923661	OMIM:614099|OMIM:617871|OMIM:617866|ORPHA:1515	Cranioectodermal Dysplasia 3|Retinitis Pigmentosa 81|Short-Rib Thoracic Dysplasia 18 With Polydactyly|Cranioectodermal Dysplasia	yes	yes	yes	yes	36.225
IFT46	HGNC:26146	MGI:1923818	-	-	no	no	no	no	NA
IFT52	HGNC:15901	MGI:2387217	OMIM:617102|ORPHA:1515	Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly|Cranioectodermal Dysplasia	yes	yes	yes	yes	19.02
IFT56	HGNC:21882	MGI:2444853	OMIM:619534	Biliary, Renal, Neurologic, And Skeletal Syndrome	yes	yes	yes	yes	18.215
IFT57	HGNC:17367	MGI:1921166	OMIM:617927|ORPHA:508501	Orofaciodigital Syndrome Xviii|Oral-Facial-Digital Syndrome With Short Stature And Brachymesophalangy	no	no	no	no	NA
IFT74	HGNC:21424	MGI:1914944	OMIM:617119|OMIM:619582|OMIM:619585|ORPHA:475|ORPHA:137893|ORPHA:110	Bardet-Biedl Syndrome 22|Joubert Syndrome 40|Spermatogenic Failure 58|Joubert Syndrome|Male Infertility Due To Large-Headed Multiflagellar Polyploid Spermatozoa|Bardet-Biedl Syndrome	yes	yes	yes	yes	27.115
IFT80	HGNC:29262	MGI:1915509	OMIM:611263|ORPHA:474|ORPHA:93271|ORPHA:93268	Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly|Jeune Syndrome|Short Rib-Polydactyly Syndrome, Verma-Naumoff Type|Short Rib-Polydactyly Syndrome, Beemer-Langer Type	yes	yes	yes	yes	54.545
IFT81	HGNC:14313	MGI:1098597	OMIM:617895	Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	yes	yes	yes	no	NA
IFT88	HGNC:20606	MGI:98715	ORPHA:791	Retinitis Pigmentosa	yes	yes	yes	no	NA
IFTAP	HGNC:25142	MGI:1915420	-	-	no	no	no	no	NA
IGBP1	HGNC:5461	MGI:1346500	OMIM:300472|ORPHA:52055	Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia|Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	no	no	no	no	NA
IGDCC3	HGNC:9700	MGI:1202390	-	-	no	no	no	no	NA
IGDCC4	HGNC:13770	MGI:1858497	-	-	no	no	no	no	NA
IGF1	HGNC:5464	MGI:96432	OMIM:608747|ORPHA:73272	Insulin-Like Growth Factor I Deficiency|Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	no	no	no	no	NA
IGF1R	HGNC:5465	MGI:96433	OMIM:270450|ORPHA:73273	Insulin-Like Growth Factor I, Resistance To|Growth Delay Due To Insulin-Like Growth Factor I Resistance	no	no	no	no	NA
IGF2	HGNC:5466	MGI:96434	OMIM:616489|ORPHA:2128|ORPHA:231140|ORPHA:231144|ORPHA:231117|ORPHA:397590	Silver-Russell Syndrome 3|Isolated Hemihyperplasia|Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15|Silver-Russell Syndrome Due To 11P15 Microduplication|Beckwith-Wiedemann Syndrome Due To Imprinting Defect Of 11P15|Silver-Russell Syndrome Due To A Point Mutation	no	no	no	no	NA
IGF2BP1	HGNC:28866	MGI:1890357	-	-	yes	no	no	no	NA
IGF2BP2	HGNC:28867	MGI:1890358	OMIM:125853	Type 2 Diabetes Mellitus	no	no	no	no	NA
IGF2BP3	HGNC:28868	MGI:1890359	-	-	yes	no	no	no	NA
IGF2R	HGNC:5467	MGI:96435	OMIM:114550	Hepatocellular Carcinoma	no	no	no	no	NA
IGFALS	HGNC:5468	MGI:107973	OMIM:615961|ORPHA:140941	Acid-Labile Subunit Deficiency|Short Stature Due To Primary Acid-Labile Subunit Deficiency	yes	yes	yes	yes	33.435
IGFBP1	HGNC:5469	MGI:96436	-	-	no	no	no	no	NA
IGFBP2	HGNC:5471	MGI:96437	-	-	no	no	no	no	NA
IGFBP3	HGNC:5472	MGI:96438	-	-	yes	no	no	no	NA
IGFBP4	HGNC:5473	MGI:96439	-	-	no	no	no	no	NA
IGFBP5	HGNC:5474	MGI:96440	-	-	no	no	no	no	NA
IGFBP6	HGNC:5475	MGI:96441	-	-	yes	no	no	no	NA
IGFBP7	HGNC:5476	MGI:1352480	OMIM:614224|ORPHA:284247	Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis|Familial Retinal Arterial Macroaneurysm	yes	yes	yes	no	NA
IGFBPL1	HGNC:20081	MGI:1933198	-	-	no	no	no	no	NA
IGFLR1	HGNC:23620	MGI:3655979	-	-	yes	no	no	no	NA
IGFN1	HGNC:24607	MGI:3045352	-	-	yes	no	no	no	NA
IGHMBP2	HGNC:5542	MGI:99954	OMIM:616155|OMIM:604320|ORPHA:443073|ORPHA:98920	Charcot-Marie-Tooth Disease, Axonal, Type 2S|Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1|Charcot-Marie-Tooth Disease Type 2S|Spinal Muscular Atrophy With Respiratory Distress Type 1	yes	yes	yes	yes	16.62
IGIP	HGNC:33847	MGI:1924271	-	-	no	no	no	no	NA
IGLON5	HGNC:34550	MGI:2686277	-	-	yes	no	no	no	NA
IGSF1	HGNC:5948	MGI:2147913	OMIM:300888|ORPHA:329235	Hypothyroidism, Central, With Testicular Enlargement|X-Linked Central Congenital Hypothyroidism With Late-Onset Testicular Enlargement	no	no	no	no	NA
IGSF10	HGNC:26384	MGI:1923481	-	-	no	no	no	no	NA
IGSF11	HGNC:16669	MGI:2388477	-	-	yes	no	no	no	NA
IGSF21	HGNC:28246	MGI:2681842	-	-	no	no	no	no	NA
IGSF23	HGNC:40040	MGI:1917330	-	-	no	no	no	no	NA
IGSF3	HGNC:5950	MGI:1926158	OMIM:149700|ORPHA:451612	Lacrimal Duct Defect|Familial Congenital Nasolacrimal Duct Obstruction	no	no	no	no	NA
IGSF5	HGNC:5952	MGI:1919308	-	-	no	no	no	no	NA
IGSF6	HGNC:5953	MGI:1891393	-	-	yes	no	no	no	NA
IGSF8	HGNC:17813	MGI:2154090	-	-	yes	no	no	no	NA
IGSF9	HGNC:18132	MGI:2135283	-	-	yes	no	no	no	NA
IGSF9B	HGNC:32326	MGI:2685354	-	-	yes	no	no	no	NA
IHH	HGNC:5956	MGI:96533	OMIM:607778|OMIM:112500|ORPHA:63446|ORPHA:93388	Acrocapitofemoral Dysplasia|Brachydactyly, Type A1|Brachydactyly Type A1	no	no	no	no	NA
IHO1	HGNC:27945	MGI:3612242	-	-	yes	no	no	no	NA
IK	HGNC:5958	MGI:1345142	-	-	yes	no	no	no	NA
IKBIP	HGNC:26430	MGI:1914704	-	-	no	no	no	no	NA
IKBKB	HGNC:5960	MGI:1338071	OMIM:618204|OMIM:615592|ORPHA:397787	Immunodeficiency 15A|Immunodeficiency 15B|Severe Combined Immunodeficiency Due To Ikk2 Deficiency	yes	yes	yes	no	NA
IKBKE	HGNC:14552	MGI:1929612	-	-	yes	no	no	no	NA
IKBKG	HGNC:5961	MGI:1338074	OMIM:301081|OMIM:300291|OMIM:300636|OMIM:308300|ORPHA:464|ORPHA:319612|ORPHA:69088|ORPHA:98813	Autoinflammatory Disease, Systemic, X-Linked|Ectodermal Dysplasia And Immunodeficiency 1|Immunodeficiency 33|Incontinentia Pigmenti|X-Linked Mendelian Susceptibility To Mycobacterial Diseases Due To Ikbkg Deficiency|Anhidrotic Ectodermal Dysplasia-Immunodeficiency-Osteopetrosis-Lymphedema Syndrome|Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	no	no	no	no	NA
IKZF1	HGNC:13176	MGI:1342540	OMIM:616873|ORPHA:317473|ORPHA:36426|ORPHA:585909	Immunodeficiency, Common Variable, 13|Pancytopenia Due To Ikzf1 Mutations|Stevens-Johnson Syndrome|B-Lymphoblastic Leukemia/Lymphoma With T(9;22)(Q34.1;Q11.2)	no	no	no	no	NA
IKZF2	HGNC:13177	MGI:1342541	-	-	yes	no	no	no	NA
IKZF3	HGNC:13178	MGI:1342542	OMIM:619437|ORPHA:67038	Immunodeficiency 84|B-Cell Chronic Lymphocytic Leukemia	yes	yes	yes	yes	55.53
IKZF4	HGNC:13179	MGI:1343139	-	-	yes	no	no	no	NA
IKZF5	HGNC:14283	MGI:1914393	OMIM:619130|ORPHA:168629	Thrombocytopenia 7|Autosomal Thrombocytopenia With Normal Platelets	yes	yes	yes	yes	23.65
IL10	HGNC:5962	MGI:96537	OMIM:609423|OMIM:614395|OMIM:180300|ORPHA:536|ORPHA:117|ORPHA:238569	Human Immunodeficiency Virus Type 1, Susceptibility To|Graft-Versus-Host Disease, Susceptibility To|Rheumatoid Arthritis|Systemic Lupus Erythematosus|Behçet Disease|Immune Dysregulation-Inflammatory Bowel Disease-Arthritis-Recurrent Infections Syndrome	no	no	no	no	NA
IL10RA	HGNC:5964	MGI:96538	OMIM:613148|ORPHA:238569	Inflammatory Bowel Disease 28, Autosomal Recessive|Immune Dysregulation-Inflammatory Bowel Disease-Arthritis-Recurrent Infections Syndrome	yes	yes	yes	yes	16.09
IL10RB	HGNC:5965	MGI:109380	OMIM:612567|OMIM:610424|ORPHA:238569	Inflammatory Bowel Disease 25, Autosomal Recessive|Hepatitis B Virus, Susceptibility To|Immune Dysregulation-Inflammatory Bowel Disease-Arthritis-Recurrent Infections Syndrome	yes	yes	yes	no	NA
IL11	HGNC:5966	MGI:107613	-	-	no	no	no	no	NA
IL12A	HGNC:5969	MGI:96539	ORPHA:117|ORPHA:186	Behçet Disease|Primary Biliary Cholangitis	yes	yes	yes	yes	23.345
IL12B	HGNC:5970	MGI:96540	OMIM:614890|ORPHA:3287|ORPHA:319558	Immunodeficiency 29|Takayasu Arteritis|Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12B Deficiency	yes	yes	yes	no	NA
IL12RB1	HGNC:5971	MGI:104579	OMIM:614891|ORPHA:186|ORPHA:319552	Immunodeficiency 30|Primary Biliary Cholangitis|Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	yes	yes	yes	yes	31.85
IL12RB2	HGNC:5972	MGI:1270861	-	-	no	no	no	no	NA
IL13	HGNC:5973	MGI:96541	OMIM:607154|OMIM:600807	Allergic Rhinitis|Asthma, Susceptibility To	yes	yes	yes	yes	58.89
IL13RA1	HGNC:5974	MGI:105052	-	-	no	no	no	no	NA
IL13RA2	HGNC:5975	MGI:1277954	-	-	yes	no	no	no	NA
IL15	HGNC:5977	MGI:103014	-	-	yes	no	no	no	NA
IL15RA	HGNC:5978	MGI:104644	-	-	no	no	no	no	NA
IL16	HGNC:5980	MGI:1270855	-	-	no	no	no	no	NA
IL17A	HGNC:5981	MGI:107364	-	-	yes	no	no	no	NA
IL17B	HGNC:5982	MGI:1928397	-	-	no	no	no	no	NA
IL17C	HGNC:5983	MGI:2446486	-	-	no	no	no	no	NA
IL17D	HGNC:5984	MGI:2446510	-	-	no	no	no	no	NA
IL17F	HGNC:16404	MGI:2676631	OMIM:613956|ORPHA:1334	Candidiasis, Familial, 6|Chronic Mucocutaneous Candidiasis	no	no	no	no	NA
IL17RA	HGNC:5985	MGI:107399	OMIM:613953|ORPHA:1334	Immunodeficiency 51|Chronic Mucocutaneous Candidiasis	yes	yes	yes	yes	38.925
IL17RB	HGNC:18015	MGI:1355292	-	-	no	no	no	no	NA
IL17RC	HGNC:18358	MGI:2159336	OMIM:616445|ORPHA:1334	Candidiasis, Familial, 9|Chronic Mucocutaneous Candidiasis	yes	yes	yes	yes	34.505
IL17RD	HGNC:17616	MGI:2159727	OMIM:615267|ORPHA:478	Hypogonadotropic Hypogonadism 18 With Or Without Anosmia|Kallmann Syndrome	yes	yes	yes	no	NA
IL17RE	HGNC:18439	MGI:1889371	-	-	no	no	no	no	NA
IL18	HGNC:5986	MGI:107936	-	-	yes	no	no	no	NA
IL18BP	HGNC:5987	MGI:1333800	OMIM:618549	Hepatitis, Fulminant Viral, Susceptibility To	yes	no	yes	no	NA
IL18R1	HGNC:5988	MGI:105383	-	-	yes	no	no	no	NA
IL18RAP	HGNC:5989	MGI:1338888	-	-	yes	no	no	no	NA
IL19	HGNC:5990	MGI:1890472	-	-	no	no	no	no	NA
IL1A	HGNC:5991	MGI:96542	-	-	yes	no	no	no	NA
IL1B	HGNC:5992	MGI:96543	OMIM:613659	Gastric Cancer	no	no	no	no	NA
IL1F10	HGNC:15552	MGI:2652548	-	-	no	no	no	no	NA
IL1R1	HGNC:5993	MGI:96545	OMIM:259680	Chronic Recurrent Multifocal Osteomyelitis 3	yes	yes	yes	no	NA
IL1R2	HGNC:5994	MGI:96546	-	-	yes	no	no	no	NA
IL1RAP	HGNC:5995	MGI:104975	-	-	no	no	no	no	NA
IL1RAPL1	HGNC:5996	MGI:2687319	OMIM:300143|ORPHA:777	Intellectual Developmental Disorder, X-Linked 21|X-Linked Non-Syndromic Intellectual Disability	no	no	no	no	NA
IL1RAPL2	HGNC:5997	MGI:1913106	-	-	no	no	no	no	NA
IL1RL1	HGNC:5998	MGI:98427	-	-	yes	no	no	no	NA
IL1RL2	HGNC:5999	MGI:1913107	-	-	yes	no	no	no	NA
IL1RN	HGNC:6000	MGI:96547	OMIM:612852|OMIM:613659|OMIM:612628|ORPHA:210115	Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis|Gastric Cancer|Microvascular Complications Of Diabetes, Susceptibility To, 4|Sterile Multifocal Osteomyelitis With Periostitis And Pustulosis	no	no	no	no	NA
IL2	HGNC:6001	MGI:96548	-	-	no	no	no	no	NA
IL20	HGNC:6002	MGI:1890473	-	-	yes	no	no	no	NA
IL20RA	HGNC:6003	MGI:3605069	-	-	yes	no	no	no	NA
IL20RB	HGNC:6004	MGI:2143266	-	-	yes	no	no	no	NA
IL21	HGNC:6005	MGI:1890474	OMIM:615767|ORPHA:477661	Immunodeficiency, Common Variable, 11|Il21-Related Infantile Inflammatory Bowel Disease	yes	yes	yes	no	NA
IL21R	HGNC:6006	MGI:1890475	OMIM:615207|ORPHA:357329	Immunodeficiency 56|Combined Immunodeficiency Due To Il21R Deficiency	yes	yes	yes	no	NA
IL22RA1	HGNC:13700	MGI:2663588	-	-	yes	no	no	no	NA
IL22RA2	HGNC:14901	MGI:2665114	-	-	no	no	no	no	NA
IL23A	HGNC:15488	MGI:1932410	-	-	no	no	no	no	NA
IL23R	HGNC:19100	MGI:2181693	OMIM:612261|OMIM:605606|ORPHA:206|ORPHA:771|ORPHA:117	Inflammatory Bowel Disease 17|Psoriasis 7, Susceptibility To|Non Rare In Europe: Crohn Disease|Non Rare In Europe: Ulcerative Colitis|Behçet Disease	yes	yes	yes	no	NA
IL24	HGNC:11346	MGI:2135548	-	-	yes	no	no	no	NA
IL25	HGNC:13765	MGI:2155888	-	-	yes	no	no	no	NA
IL27	HGNC:19157	MGI:2384409	-	-	yes	no	no	no	NA
IL27RA	HGNC:17290	MGI:1355318	-	-	no	no	no	no	NA
IL2RA	HGNC:6008	MGI:96549	OMIM:606367|OMIM:601942|ORPHA:169100|ORPHA:85410|ORPHA:85408	Immunodeficiency 41 With Lymphoproliferation And Autoimmunity|Type 1 Diabetes Mellitus 10|Immunodeficiency Due To Cd25 Deficiency|Oligoarticular Juvenile Idiopathic Arthritis|Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	yes	yes	yes	yes	51.47
IL2RB	HGNC:6009	MGI:96550	OMIM:618495|ORPHA:85410|ORPHA:85408	Immunodeficiency 63 With Lymphoproliferation And Autoimmunity|Oligoarticular Juvenile Idiopathic Arthritis|Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	yes	yes	yes	yes	22.63
IL2RG	HGNC:6010	MGI:96551	OMIM:312863|OMIM:300400|ORPHA:276|ORPHA:39041	Combined Immunodeficiency, X-Linked|Severe Combined Immunodeficiency, X-Linked|T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency|Omenn Syndrome	no	no	no	no	NA
IL3	HGNC:6011	MGI:96552	-	-	yes	no	no	no	NA
IL31	HGNC:19372	MGI:1923649	-	-	yes	no	no	no	NA
IL31RA	HGNC:18969	MGI:2180511	OMIM:613955|ORPHA:353220	Amyloidosis, Primary Localized Cutaneous, 2|Familial Primary Localized Cutaneous Amyloidosis	yes	yes	yes	no	NA
IL33	HGNC:16028	MGI:1924375	-	-	yes	no	no	no	NA
IL34	HGNC:28529	MGI:1923777	-	-	no	no	no	no	NA
IL36A	HGNC:15562	MGI:1859324	-	-	no	no	no	no	NA
IL36B	HGNC:15564	MGI:1916927	-	-	no	no	no	no	NA
IL36G	HGNC:15741	MGI:2449929	-	-	no	no	no	no	NA
IL36RN	HGNC:15561	MGI:1859325	OMIM:614204|ORPHA:163931|ORPHA:163927|ORPHA:247353|ORPHA:404546	Psoriasis 14, Pustular|Acrodermatitis Continua Of Hallopeau|Pustulosis Palmaris Et Plantaris|Generalized Pustular Psoriasis|Ditra	yes	yes	yes	yes	13.1
IL3RA	HGNC:6012	MGI:96553	-	-	yes	no	no	no	NA
IL4	HGNC:6014	MGI:96556	-	-	no	no	no	no	NA
IL4I1	HGNC:19094	MGI:5439399	-	-	no	no	no	no	NA
IL4R	HGNC:6015	MGI:105367	-	-	no	no	no	no	NA
IL5	HGNC:6016	MGI:96557	-	-	no	no	no	no	NA
IL5RA	HGNC:6017	MGI:96558	-	-	no	no	no	no	NA
IL6	HGNC:6018	MGI:96559	OMIM:108010|OMIM:125853|OMIM:266600|OMIM:222100|OMIM:148000|OMIM:604302|ORPHA:206|ORPHA:85414	Arteriovenous Malformations Of The Brain|Type 2 Diabetes Mellitus|Inflammatory Bowel Disease (Crohn Disease) 1|Type 1 Diabetes Mellitus|Kaposi Sarcoma, Susceptibility To|Rheumatoid Arthritis, Systemic Juvenile|Non Rare In Europe: Crohn Disease|Systemic-Onset Juvenile Idiopathic Arthritis	yes	yes	yes	yes	25.88
IL6R	HGNC:6019	MGI:105304	OMIM:618944|OMIM:614752|OMIM:614689|ORPHA:641368	Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections|Interleukin 6, Serum Level Of, Quantitative Trait Locus|Soluble Interleukin-6 Receptor, Serum Level Of, Quantitative Trait Locus|Autosomal Recessive Hyper-Ige Syndrome	yes	yes	yes	yes	18.35
IL6ST	HGNC:6021	MGI:96560	OMIM:619750|OMIM:619752|OMIM:618523|OMIM:619751|ORPHA:2314|ORPHA:3206|ORPHA:641368	Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies|Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections|Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections|Stuve-Wiedemann Syndrome 2|Autosomal Dominant Hyper-Ige Syndrome|Stüve-Wiedemann Syndrome|Autosomal Recessive Hyper-Ige Syndrome	yes	yes	yes	yes	34.325
IL7	HGNC:6023	MGI:96561	OMIM:618309|ORPHA:302	Epidermodysplasia Verruciformis, Susceptibility To, 5|Epidermodysplasia Verruciformis	no	no	no	no	NA
IL7R	HGNC:6024	MGI:96562	OMIM:608971|ORPHA:169154|ORPHA:39041	Immunodeficiency 104|T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency|Omenn Syndrome	no	no	no	no	NA
IL9	HGNC:6029	MGI:96563	-	-	yes	no	no	no	NA
IL9R	HGNC:6030	MGI:96564	-	-	yes	no	no	no	NA
ILDR1	HGNC:28741	MGI:2146574	OMIM:609646|ORPHA:90636	Deafness, Autosomal Recessive 42|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	yes	yes	yes	no	NA
ILDR2	HGNC:18131	MGI:1196370	-	-	no	no	no	no	NA
ILF2	HGNC:6037	MGI:1915031	-	-	no	no	no	no	NA
ILF3	HGNC:6038	MGI:1339973	-	-	no	no	no	no	NA
ILK	HGNC:6040	MGI:1195267	-	-	yes	no	no	no	NA
ILKAP	HGNC:15566	MGI:1914694	-	-	yes	no	no	no	NA
ILRUN	HGNC:21215	MGI:106281	-	-	yes	no	no	no	NA
ILVBL	HGNC:6041	MGI:1351911	-	-	yes	no	no	no	NA
IMMP1L	HGNC:26317	MGI:1913791	-	-	no	no	no	no	NA
IMMP2L	HGNC:14598	MGI:2135611	ORPHA:856	Non Rare In Europe: Tourette Syndrome	yes	yes	no	no	NA
IMMT	HGNC:6047	MGI:1923864	-	-	no	no	no	no	NA
IMP3	HGNC:14497	MGI:1916119	-	-	no	no	no	no	NA
IMP4	HGNC:30856	MGI:106572	-	-	no	no	no	no	NA
IMPA1	HGNC:6050	MGI:1933158	OMIM:617323|ORPHA:88616	Intellectual Developmental Disorder, Autosomal Recessive 59|Autosomal Recessive Non-Syndromic Intellectual Disability	no	no	no	no	NA
IMPA2	HGNC:6051	MGI:2149728	-	-	no	no	no	no	NA
IMPACT	HGNC:20387	MGI:1098233	-	-	yes	no	no	no	NA
IMPDH1	HGNC:6052	MGI:96567	OMIM:613837|OMIM:180105|ORPHA:791|ORPHA:65	Leber Congenital Amaurosis 11|Retinitis Pigmentosa 10|Retinitis Pigmentosa|Leber Congenital Amaurosis	no	no	no	no	NA
IMPDH2	HGNC:6053	MGI:109367	OMIM:617995|ORPHA:98808	Impdh2 Enzyme Activity, Variation In|Autosomal Dominant Dopa-Responsive Dystonia	no	no	no	no	NA
IMPG1	HGNC:6055	MGI:1926876	OMIM:616151|OMIM:153870|ORPHA:791|ORPHA:251287|ORPHA:99000	Macular Dystrophy, Vitelliform, 4|Retinitis Pigmentosa 91|Retinitis Pigmentosa|Benign Concentric Annular Macular Dystrophy|Adult-Onset Foveomacular Vitelliform Dystrophy	yes	no	yes	no	NA
IMPG2	HGNC:18362	MGI:3044955	OMIM:616152|OMIM:613581|ORPHA:791|ORPHA:99000	Macular Dystrophy, Vitelliform, 5|Retinitis Pigmentosa 56|Retinitis Pigmentosa|Adult-Onset Foveomacular Vitelliform Dystrophy	yes	yes	yes	no	NA
INA	HGNC:6057	MGI:96568	-	-	no	no	no	no	NA
INAFM1	HGNC:27406	MGI:1913550	-	-	no	no	no	no	NA
INAFM2	HGNC:35165	MGI:1915354	-	-	no	no	no	no	NA
INAVA	HGNC:25599	MGI:1921579	OMIM:618077	Inflammatory Bowel Disease 29	yes	no	yes	no	NA
INCA1	HGNC:32224	MGI:2144284	-	-	no	no	no	no	NA
INCENP	HGNC:6058	MGI:1313288	-	-	no	no	no	no	NA
INF2	HGNC:23791	MGI:1917685	OMIM:614455|OMIM:613237|ORPHA:656|ORPHA:93114	Charcot-Marie-Tooth Disease, Dominant Intermediate E|Focal Segmental Glomerulosclerosis 5|Genetic Steroid-Resistant Nephrotic Syndrome|Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type E	yes	yes	yes	no	NA
ING1	HGNC:6062	MGI:1349481	OMIM:275355|ORPHA:494547|ORPHA:494550|ORPHA:500478|ORPHA:500481|ORPHA:500464|ORPHA:502363|ORPHA:502366	Squamous Cell Carcinoma, Head And Neck|Squamous Cell Carcinoma Of The Hypopharynx|Squamous Cell Carcinoma Of The Larynx|Squamous Cell Carcinoma Of The Oropharynx|Squamous Cell Carcinoma Of Salivary Glands|Squamous Cell Carcinoma Of The Nasal Cavity And Paranasal Sinuses|Squamous Cell Carcinoma Of The Oral Cavity|Squamous Cell Carcinoma Of The Lip	no	no	no	no	NA
ING2	HGNC:6063	MGI:1916510	-	-	yes	no	no	no	NA
ING3	HGNC:14587	MGI:1919027	-	-	no	no	no	no	NA
ING4	HGNC:19423	MGI:107307	-	-	yes	no	no	no	NA
ING5	HGNC:19421	MGI:1922816	-	-	yes	no	no	no	NA
INHA	HGNC:6065	MGI:96569	ORPHA:619	Non Rare In Europe: Primary Ovarian Failure	no	no	no	no	NA
INHBA	HGNC:6066	MGI:96570	ORPHA:213504	Adenocarcinoma Of Ovary	no	no	no	no	NA
INHBB	HGNC:6067	MGI:96571	-	-	yes	no	no	no	NA
INHBC	HGNC:6068	MGI:105932	-	-	no	no	no	no	NA
INHBE	HGNC:24029	MGI:109269	-	-	no	no	no	no	NA
INIP	HGNC:24994	MGI:1913459	-	-	no	no	no	no	NA
INKA1	HGNC:32480	MGI:1915426	-	-	no	no	no	no	NA
INKA2	HGNC:28045	MGI:1923497	-	-	yes	no	no	no	NA
INMT	HGNC:6069	MGI:102963	-	-	yes	no	no	no	NA
INO80	HGNC:26956	MGI:1915392	ORPHA:157949	Combined Immunodeficiency With Granulomatosis	yes	yes	no	no	NA
INO80B	HGNC:13324	MGI:1917270	-	-	yes	no	no	no	NA
INO80C	HGNC:26994	MGI:2443014	-	-	yes	no	no	no	NA
INO80D	HGNC:25997	MGI:3027003	-	-	yes	no	no	no	NA
INO80E	HGNC:26905	MGI:2141881	-	-	no	no	no	no	NA
INPP1	HGNC:6071	MGI:104848	-	-	yes	no	no	no	NA
INPP4A	HGNC:6074	MGI:1931123	-	-	no	no	no	no	NA
INPP4B	HGNC:6075	MGI:2158925	-	-	no	no	no	no	NA
INPP5A	HGNC:6076	MGI:2686961	-	-	yes	no	no	no	NA
INPP5B	HGNC:6077	MGI:103257	-	-	no	no	no	no	NA
INPP5D	HGNC:6079	MGI:107357	-	-	yes	no	no	no	NA
INPP5E	HGNC:21474	MGI:1927753	OMIM:213300|OMIM:610156|ORPHA:475|ORPHA:1454|ORPHA:220493|ORPHA:75858	Joubert Syndrome 1|Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome|Joubert Syndrome|Joubert Syndrome With Hepatic Defect|Joubert Syndrome With Ocular Defect|Morm Syndrome	yes	yes	yes	yes	52.065
INPP5F	HGNC:17054	MGI:2141867	-	-	no	no	no	no	NA
INPP5J	HGNC:8956	MGI:2158663	-	-	yes	no	no	no	NA
INPP5K	HGNC:33882	MGI:1194899	OMIM:617404|ORPHA:559	Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability|Marinesco-Sjögren Syndrome	yes	yes	yes	no	NA
INPPL1	HGNC:6080	MGI:1333787	OMIM:258480|ORPHA:2746|ORPHA:3144	Opsismodysplasia|Schneckenbecken Dysplasia	no	no	no	no	NA
INSC	HGNC:33116	MGI:1917942	-	-	no	no	no	no	NA
INSIG1	HGNC:6083	MGI:1916289	-	-	yes	no	no	no	NA
INSIG2	HGNC:20452	MGI:1920249	-	-	yes	no	no	no	NA
INSL3	HGNC:6086	MGI:108427	OMIM:219050	Cryptorchidism, Unilateral Or Bilateral	no	no	no	no	NA
INSL5	HGNC:6088	MGI:1346085	-	-	yes	no	no	no	NA
INSL6	HGNC:6089	MGI:1351595	-	-	no	no	no	no	NA
INSM1	HGNC:6090	MGI:1859980	-	-	no	no	no	no	NA
INSM2	HGNC:17539	MGI:1930787	-	-	no	no	no	no	NA
INSR	HGNC:6091	MGI:96575	OMIM:610549|OMIM:246200|OMIM:609968|OMIM:262190|ORPHA:508|ORPHA:2297|ORPHA:263458|ORPHA:769	Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans|Donohue Syndrome|Hyperinsulinemic Hypoglycemia, Familial, 5|Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities|Leprechaunism|Insulin-Resistance Syndrome Type A|Hyperinsulinism Due To Insr Deficiency|Rabson-Mendenhall Syndrome	no	no	no	no	NA
INSRR	HGNC:6093	MGI:1346037	-	-	no	no	no	no	NA
INSYN1	HGNC:33753	MGI:2442108	-	-	no	no	no	no	NA
INSYN2A	HGNC:33859	MGI:3605068	-	-	yes	no	no	no	NA
INSYN2B	HGNC:37271	MGI:3643491	-	-	yes	no	no	no	NA
INTS1	HGNC:24555	MGI:1915760	OMIM:618571	Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	no	no	no	no	NA
INTS10	HGNC:25548	MGI:1918135	-	-	yes	no	no	no	NA
INTS11	HGNC:26052	MGI:1919207	OMIM:620428	Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities	yes	yes	no	no	NA
INTS12	HGNC:25067	MGI:1919043	-	-	yes	no	no	no	NA
INTS13	HGNC:20174	MGI:1918427	-	-	no	no	no	no	NA
INTS14	HGNC:25372	MGI:1917132	-	-	no	no	no	no	NA
INTS15	HGNC:21702	MGI:2442621	-	-	no	no	no	no	NA
INTS2	HGNC:29241	MGI:1917672	-	-	yes	no	no	no	NA
INTS3	HGNC:26153	MGI:2140050	-	-	yes	no	no	no	NA
INTS4	HGNC:25048	MGI:1917164	-	-	no	no	no	no	NA
INTS5	HGNC:29352	MGI:1923578	-	-	no	no	no	no	NA
INTS6	HGNC:14879	MGI:1202397	-	-	no	no	no	no	NA
INTS6L	HGNC:27334	MGI:2442593	-	-	yes	no	no	no	NA
INTS7	HGNC:24484	MGI:1924315	-	-	yes	no	no	no	NA
INTS8	HGNC:26048	MGI:1919906	OMIM:618572	Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity	yes	yes	yes	no	NA
INTS9	HGNC:25592	MGI:1098533	-	-	yes	no	no	no	NA
INTU	HGNC:29239	MGI:2443752	OMIM:617926|OMIM:617925	Orofaciodigital Syndrome Xvii|Short-Rib Thoracic Dysplasia 20 With Polydactyly	no	no	no	no	NA
INVS	HGNC:17870	MGI:1335082	OMIM:602088|ORPHA:3156|ORPHA:93591	Nephronophthisis 2|Senior-Loken Syndrome|Infantile Nephronophthisis	yes	yes	yes	yes	33.41
IP6K1	HGNC:18360	MGI:1351633	-	-	no	no	no	no	NA
IP6K2	HGNC:17313	MGI:1923750	-	-	no	no	no	no	NA
IP6K3	HGNC:17269	MGI:3045325	-	-	no	no	no	no	NA
IPCEF1	HGNC:21204	MGI:2444159	-	-	no	no	no	no	NA
IPMK	HGNC:20739	MGI:1916968	ORPHA:456333	Hereditary Neuroendocrine Tumor Of Small Intestine	no	no	no	no	NA
IPO11	HGNC:20628	MGI:2442377	-	-	yes	no	no	no	NA
IPO13	HGNC:16853	MGI:2385205	-	-	no	no	no	no	NA
IPO4	HGNC:19426	MGI:1923001	-	-	yes	no	no	no	NA
IPO5	HGNC:6402	MGI:1917822	-	-	no	no	no	no	NA
IPO7	HGNC:9852	MGI:2152414	-	-	yes	no	no	no	NA
IPO8	HGNC:9853	MGI:2444611	OMIM:619472|ORPHA:60030	Viss Syndrome|Loeys-Dietz Syndrome	yes	yes	yes	yes	11.875
IPO9	HGNC:19425	MGI:1918944	-	-	yes	no	no	no	NA
IPP	HGNC:6108	MGI:96581	-	-	yes	no	no	no	NA
IPPK	HGNC:14645	MGI:1922928	-	-	yes	no	no	no	NA
IQANK1	HGNC:49576	MGI:3588184	-	-	no	no	no	no	NA
IQCA1	HGNC:26195	MGI:1922168	-	-	yes	no	no	no	NA
IQCA1L	HGNC:22831	MGI:3045319	-	-	no	no	no	no	NA
IQCB1	HGNC:28949	MGI:2443764	OMIM:609254|ORPHA:3156|ORPHA:65	Senior-Loken Syndrome 5|Senior-Loken Syndrome|Leber Congenital Amaurosis	yes	yes	yes	yes	51.115
IQCC	HGNC:25545	MGI:2446212	-	-	no	no	no	no	NA
IQCD	HGNC:25168	MGI:1922982	-	-	no	no	no	no	NA
IQCE	HGNC:29171	MGI:1921489	OMIM:617642|ORPHA:93334	Polydactyly, Postaxial, Type A7|Postaxial Polydactyly Type A	yes	yes	yes	yes	42.455
IQCF1	HGNC:28607	MGI:1921517	-	-	yes	no	no	no	NA
IQCF5	HGNC:35159	MGI:1922720	-	-	no	no	no	no	NA
IQCF6	HGNC:35158	MGI:3781315	-	-	no	no	no	no	NA
IQCG	HGNC:25251	MGI:1916957	-	-	no	no	no	no	NA
IQCH	HGNC:25721	MGI:1925500	-	-	yes	no	no	no	NA
IQCJ	HGNC:32406	MGI:3644166	-	-	yes	no	no	no	NA
IQCK	HGNC:28556	MGI:3612188	-	-	no	no	no	no	NA
IQCM	HGNC:53443	MGI:1919081	-	-	no	no	no	no	NA
IQCN	HGNC:29350	MGI:3708784	OMIM:620170	Spermatogenic Failure 78	no	no	no	no	NA
IQGAP1	HGNC:6110	MGI:1352757	-	-	yes	no	no	no	NA
IQGAP2	HGNC:6111	MGI:2449975	-	-	yes	no	no	no	NA
IQGAP3	HGNC:20669	MGI:3028642	-	-	yes	no	no	no	NA
IQSEC1	HGNC:29112	MGI:1196356	OMIM:618687|ORPHA:88616	Intellectual Developmental Disorder With Short Stature And Behavioral Abnormalities|Autosomal Recessive Non-Syndromic Intellectual Disability	no	no	no	no	NA
IQSEC2	HGNC:29059	MGI:3528396	OMIM:309530|ORPHA:819|ORPHA:777|ORPHA:217377|ORPHA:397933	Intellectual Developmental Disorder, X-Linked 1|Smith-Magenis Syndrome|X-Linked Non-Syndromic Intellectual Disability|Microduplication Xp11.22P11.23 Syndrome|Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	no	no	no	no	NA
IQSEC3	HGNC:29193	MGI:2677208	-	-	yes	no	no	no	NA
IQUB	HGNC:21995	MGI:3041159	-	-	yes	no	no	no	NA
IRAG1	HGNC:7237	MGI:1338023	-	-	yes	no	no	no	NA
IRAG2	HGNC:6690	MGI:108424	-	-	yes	no	no	no	NA
IRAK1	HGNC:6112	MGI:107420	ORPHA:536|ORPHA:93552	Systemic Lupus Erythematosus|Pediatric Systemic Lupus Erythematosus	yes	yes	yes	no	NA
IRAK1BP1	HGNC:17368	MGI:1929475	-	-	no	no	no	no	NA
IRAK2	HGNC:6113	MGI:2429603	-	-	yes	no	no	no	NA
IRAK3	HGNC:17020	MGI:1921164	OMIM:611064	Asthma-Related Traits, Susceptibility To, 5	no	no	no	no	NA
IRAK4	HGNC:17967	MGI:2182474	OMIM:607676|ORPHA:70592	Immunodeficiency 67|Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	no	no	no	no	NA
IREB2	HGNC:6115	MGI:1928268	OMIM:618451	Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	no	no	no	no	NA
IRF1	HGNC:6116	MGI:96590	OMIM:211980|OMIM:613659	Lung Cancer|Gastric Cancer	yes	no	yes	no	NA
IRF2	HGNC:6117	MGI:96591	-	-	no	no	no	no	NA
IRF2BP1	HGNC:21728	MGI:2442159	-	-	no	no	no	no	NA
IRF2BP2	HGNC:21729	MGI:2443921	OMIM:617765|ORPHA:1572|ORPHA:520	Immunodeficiency, Common Variable, 14|Common Variable Immunodeficiency|Acute Promyelocytic Leukemia	no	no	no	no	NA
IRF2BPL	HGNC:14282	MGI:2442463	OMIM:618088|ORPHA:597623	Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures|Irf2Bpl-Related Regressive Neurodevelopmental Disorder-Dystonia-Seizures Syndrome	yes	yes	yes	yes	34.48
IRF3	HGNC:6118	MGI:1859179	OMIM:616532	Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7	yes	yes	yes	no	NA
IRF4	HGNC:6119	MGI:1096873	OMIM:611724|ORPHA:3452	Skin/Hair/Eye Pigmentation, Variation In, 8|Whipple Disease	yes	yes	yes	yes	45.135
IRF5	HGNC:6120	MGI:1350924	OMIM:612245|OMIM:612251|ORPHA:206|ORPHA:771|ORPHA:536|ORPHA:186|ORPHA:220402|ORPHA:220393	Inflammatory Bowel Disease 14|Systemic Lupus Erythematosus, Susceptibility To, 10|Non Rare In Europe: Crohn Disease|Non Rare In Europe: Ulcerative Colitis|Systemic Lupus Erythematosus|Primary Biliary Cholangitis|Limited Cutaneous Systemic Sclerosis|Diffuse Cutaneous Systemic Sclerosis	yes	yes	yes	yes	35.045
IRF6	HGNC:6121	MGI:1859211	OMIM:119500|OMIM:119300|OMIM:608864|ORPHA:199302|ORPHA:199306|ORPHA:888|ORPHA:1300|ORPHA:141291|ORPHA:2227|ORPHA:99798	Popliteal Pterygium Syndrome|Van Der Woude Syndrome 1|Orofacial Cleft 6, Susceptibility To|Isolated Cleft Lip|Cleft Lip/Palate|Van Der Woude Syndrome|Autosomal Dominant Popliteal Pterygium Syndrome|Cleft Lip And Alveolus|Non Rare In Europe: Hypodontia|Oligodontia	yes	yes	yes	yes	18.035
IRF7	HGNC:6122	MGI:1859212	OMIM:616345|ORPHA:574918	Immunodeficiency 39|Predisposition To Severe Viral Infection Due To Irf7 Deficiency	yes	yes	yes	no	NA
IRF8	HGNC:5358	MGI:96395	OMIM:614893|OMIM:226990|ORPHA:319600	Immunodeficiency 32A|Immunodeficiency 32B|Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	yes	yes	yes	yes	55.98
IRF9	HGNC:6131	MGI:107587	OMIM:618648	Immunodeficiency 65, Susceptibility To Viral Infections	no	no	no	no	NA
IRGC	HGNC:28835	MGI:2685948	-	-	yes	no	no	no	NA
IRGQ	HGNC:24868	MGI:2667176	-	-	yes	no	no	no	NA
IRS1	HGNC:6125	MGI:99454	OMIM:125853	Type 2 Diabetes Mellitus	yes	yes	yes	no	NA
IRS2	HGNC:6126	MGI:109334	OMIM:125853	Type 2 Diabetes Mellitus	no	no	no	no	NA
IRS4	HGNC:6128	MGI:1338009	OMIM:301035	Hypothyroidism, Congenital, Nongoitrous, 9	no	no	no	no	NA
IRX1	HGNC:14358	MGI:1197515	-	-	yes	no	no	no	NA
IRX2	HGNC:14359	MGI:1197526	ORPHA:457246	Clear Cell Sarcoma Of Kidney	yes	no	no	no	NA
IRX3	HGNC:14360	MGI:1197522	-	-	yes	no	no	no	NA
IRX4	HGNC:6129	MGI:1355275	-	-	no	no	no	no	NA
IRX5	HGNC:14361	MGI:1859086	OMIM:611174|ORPHA:314555	Hamamy Syndrome|Facial Dysmorphism-Ocular Anomalies-Osteopenia-Intellectual Disability-Dental Anomalies Syndrome	no	no	no	no	NA
IRX6	HGNC:14675	MGI:1927642	-	-	yes	no	no	no	NA
ISCA2	HGNC:19857	MGI:1921566	OMIM:616370|ORPHA:457406	Multiple Mitochondrial Dysfunctions Syndrome 4|Multiple Mitochondrial Dysfunctions Syndrome Type 4	no	no	no	no	NA
ISCU	HGNC:29882	MGI:1913633	OMIM:255125|ORPHA:43115	Myopathy With Lactic Acidosis, Hereditary|Hereditary Myopathy With Lactic Acidosis Due To Iscu Deficiency	no	no	no	no	NA
ISG15	HGNC:4053	MGI:1855694	OMIM:616126|ORPHA:319563	Immunodeficiency 38 With Basal Ganglia Calcification|Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Isg15 Deficiency	no	no	no	no	NA
ISG20	HGNC:6130	MGI:1928895	-	-	yes	no	no	no	NA
ISG20L2	HGNC:25745	MGI:2140076	-	-	no	no	no	no	NA
ISL1	HGNC:6132	MGI:101791	ORPHA:93930	Bladder Exstrophy	no	no	no	no	NA
ISL2	HGNC:18524	MGI:109156	-	-	no	no	no	no	NA
ISLR	HGNC:6133	MGI:1349645	-	-	yes	no	no	no	NA
ISLR2	HGNC:29286	MGI:2444277	-	-	no	no	no	no	NA
ISM1	HGNC:16213	MGI:2442963	-	-	no	no	no	no	NA
ISM2	HGNC:23176	MGI:2685110	-	-	yes	no	no	no	NA
ISOC1	HGNC:24254	MGI:1913557	-	-	no	no	no	no	NA
IST1	HGNC:28977	MGI:1919205	-	-	yes	no	no	no	NA
ISX	HGNC:28084	MGI:1918847	-	-	no	no	no	no	NA
ISY1	HGNC:29201	MGI:1923310	-	-	yes	no	no	no	NA
ISYNA1	HGNC:29821	MGI:1919030	-	-	yes	no	no	no	NA
ITCH	HGNC:13890	MGI:1202301	OMIM:613385|ORPHA:228426	Autoimmune Disease, Multisystem, With Facial Dysmorphism|Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	yes	yes	yes	yes	45.965
ITFG1	HGNC:30697	MGI:106419	-	-	no	no	no	no	NA
ITFG2	HGNC:30879	MGI:1915450	-	-	yes	no	no	no	NA
ITGA1	HGNC:6134	MGI:96599	-	-	no	no	no	no	NA
ITGA10	HGNC:6135	MGI:2153482	-	-	no	no	no	no	NA
ITGA11	HGNC:6136	MGI:2442114	-	-	yes	no	no	no	NA
ITGA2	HGNC:6137	MGI:96600	ORPHA:853	Fetal And Neonatal Alloimmune Thrombocytopenia	yes	yes	yes	yes	26.835
ITGA2B	HGNC:6138	MGI:96601	OMIM:187800|OMIM:273800|ORPHA:140957|ORPHA:849|ORPHA:853	Bleeding Disorder, Platelet-Type, 16|Glanzmann Thrombasthenia 1|Autosomal Dominant Macrothrombocytopenia|Glanzmann Thrombasthenia|Fetal And Neonatal Alloimmune Thrombocytopenia	no	no	no	no	NA
ITGA3	HGNC:6139	MGI:96602	OMIM:614748|ORPHA:306504	Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome|Interstitial Lung Disease-Nephrotic Syndrome-Epidermolysis Bullosa Syndrome	yes	yes	yes	no	NA
ITGA4	HGNC:6140	MGI:96603	-	-	no	no	no	no	NA
ITGA5	HGNC:6141	MGI:96604	-	-	no	no	no	no	NA
ITGA6	HGNC:6142	MGI:96605	OMIM:619817|ORPHA:79403	Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia|Junctional Epidermolysis Bullosa With Pyloric Atresia	no	no	no	no	NA
ITGA7	HGNC:6143	MGI:102700	OMIM:613204|ORPHA:2020|ORPHA:34520	Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency|Congenital Fiber-Type Disproportion Myopathy|Congenital Muscular Dystrophy With Integrin Alpha-7 Deficiency	no	no	no	no	NA
ITGA8	HGNC:6144	MGI:109442	OMIM:191830|ORPHA:1848	Renal Hypodysplasia/Aplasia 1|Renal Agenesis, Bilateral	yes	yes	yes	yes	34.38
ITGA9	HGNC:6145	MGI:104756	-	-	no	no	no	no	NA
ITGAD	HGNC:6146	MGI:3578624	-	-	no	no	no	no	NA
ITGAE	HGNC:6147	MGI:1298377	-	-	yes	no	no	no	NA
ITGAL	HGNC:6148	MGI:96606	-	-	yes	no	no	no	NA
ITGAM	HGNC:6149	MGI:96607	ORPHA:536	Systemic Lupus Erythematosus	yes	yes	yes	yes	27.035
ITGAV	HGNC:6150	MGI:96608	-	-	no	no	no	no	NA
ITGAX	HGNC:6152	MGI:96609	-	-	no	no	no	no	NA
ITGB1	HGNC:6153	MGI:96610	-	-	yes	no	no	no	NA
ITGB1BP1	HGNC:23927	MGI:1306802	-	-	no	no	no	no	NA
ITGB1BP2	HGNC:6154	MGI:1353420	-	-	no	no	no	no	NA
ITGB3	HGNC:6156	MGI:96612	OMIM:619271|OMIM:619267|OMIM:608446|ORPHA:140957|ORPHA:849|ORPHA:853	Bleeding Disorder, Platelet-Type, 24|Glanzmann Thrombasthenia 2|Myocardial Infarction, Susceptibility To|Autosomal Dominant Macrothrombocytopenia|Glanzmann Thrombasthenia|Fetal And Neonatal Alloimmune Thrombocytopenia	no	no	no	no	NA
ITGB3BP	HGNC:6157	MGI:1914983	-	-	yes	no	no	no	NA
ITGB4	HGNC:6158	MGI:96613	OMIM:619816|OMIM:226730|ORPHA:158684|ORPHA:251393|ORPHA:1114|ORPHA:79403|ORPHA:79402	Epidermolysis Bullosa, Junctional 5A, Intermediate|Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia|Epidermolysis Bullosa Simplex With Pyloric Atresia|Localized Junctional Epidermolysis Bullosa|Aplasia Cutis Congenita|Junctional Epidermolysis Bullosa With Pyloric Atresia|Intermediate Generalized Junctional Epidermolysis Bullosa	no	no	no	no	NA
ITGB5	HGNC:6160	MGI:96614	-	-	yes	no	no	no	NA
ITGB6	HGNC:6161	MGI:96615	OMIM:616221|ORPHA:2850|ORPHA:100032|ORPHA:100031	Amelogenesis Imperfecta, Type Ih|Alopecia-Intellectual Disability Syndrome|Hypocalcified Amelogenesis Imperfecta|Hypoplastic Amelogenesis Imperfecta	yes	yes	yes	yes	65.005
ITGB7	HGNC:6162	MGI:96616	-	-	no	no	no	no	NA
ITGB8	HGNC:6163	MGI:1338035	-	-	yes	no	no	no	NA
ITGBL1	HGNC:6164	MGI:2443439	-	-	yes	no	no	no	NA
ITIH1	HGNC:6166	MGI:96618	-	-	no	no	no	no	NA
ITIH2	HGNC:6167	MGI:96619	-	-	no	no	no	no	NA
ITIH3	HGNC:6168	MGI:96620	-	-	no	no	no	no	NA
ITIH4	HGNC:6169	MGI:109536	-	-	yes	no	no	no	NA
ITIH5	HGNC:21449	MGI:1925751	-	-	no	no	no	no	NA
ITK	HGNC:6171	MGI:96621	OMIM:613011|ORPHA:538963	Lymphoproliferative Syndrome 1|Combined Immunodeficiency Due To Itk Deficiency	yes	yes	yes	yes	47.79
ITM2A	HGNC:6173	MGI:107706	ORPHA:2227	Non Rare In Europe: Hypodontia	no	no	no	no	NA
ITM2B	HGNC:6174	MGI:1309517	OMIM:616079|OMIM:176500|OMIM:117300|ORPHA:397758|ORPHA:97346|ORPHA:97345	Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities|Cerebral Amyloid Angiopathy, Itm2B-Related, 1|Cerebral Amyloid Angiopathy, Itm2B-Related, 2|Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Anomalies|Adan Amyloidosis|Abri Amyloidosis	no	no	no	no	NA
ITM2C	HGNC:6175	MGI:1927594	-	-	yes	no	no	no	NA
ITPA	HGNC:6176	MGI:96622	OMIM:616647|OMIM:613850|ORPHA:457375	Developmental And Epileptic Encephalopathy 35|Inosine Triphosphatase Deficiency|Itpa-Related Lethal Infantile Neurological Disorder With Cataract And Cardiac Involvement	no	no	no	no	NA
ITPK1	HGNC:6177	MGI:2446159	-	-	no	no	no	no	NA
ITPKA	HGNC:6178	MGI:1333822	-	-	no	no	no	no	NA
ITPKB	HGNC:6179	MGI:109235	-	-	no	no	no	no	NA
ITPKC	HGNC:14897	MGI:2442554	-	-	no	no	no	no	NA
ITPR1	HGNC:6180	MGI:96623	OMIM:206700|OMIM:606658|OMIM:117360|ORPHA:1065|ORPHA:208513|ORPHA:98769	Gillespie Syndrome|Spinocerebellar Ataxia 15|Spinocerebellar Ataxia 29|Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome|Spinocerebellar Ataxia Type 29|Spinocerebellar Ataxia Type 15/16	yes	yes	yes	no	NA
ITPR2	HGNC:6181	MGI:99418	OMIM:106190|ORPHA:468666	Anhidrosis, Isolated, With Normal Sweat Glands|Isolated Generalized Anhidrosis With Normal Sweat Glands	no	no	no	no	NA
ITPR3	HGNC:6182	MGI:96624	OMIM:620111|OMIM:222100	Charcot-Marie-Tooth Disease, Demyelinating, Type 1J|Type 1 Diabetes Mellitus	yes	yes	yes	no	NA
ITPRID1	HGNC:27363	MGI:2685304	-	-	yes	no	no	no	NA
ITPRID2	HGNC:11319	MGI:1917849	-	-	no	no	no	no	NA
ITPRIP	HGNC:29370	MGI:3042776	-	-	no	no	no	no	NA
ITPRIPL1	HGNC:29371	MGI:1920588	-	-	no	no	no	no	NA
ITPRIPL2	HGNC:27257	MGI:2442416	-	-	no	no	no	no	NA
ITSN1	HGNC:6183	MGI:1338069	ORPHA:178469	Autosomal Dominant Non-Syndromic Intellectual Disability	yes	yes	no	no	NA
ITSN2	HGNC:6184	MGI:1338049	-	-	yes	no	no	no	NA
IVD	HGNC:6186	MGI:1929242	OMIM:243500|ORPHA:33	Isovaleric Acidemia	yes	yes	yes	no	NA
IVL	HGNC:6187	MGI:96626	-	-	yes	no	no	no	NA
IVNS1ABP	HGNC:16951	MGI:2152389	OMIM:618969	Immunodeficiency 70	no	no	no	no	NA
IWS1	HGNC:25467	MGI:1920723	-	-	yes	no	no	no	NA
IYD	HGNC:21071	MGI:1917587	OMIM:274800|ORPHA:95716	Thyroid Dyshormonogenesis 4|Familial Thyroid Dyshormonogenesis	yes	no	yes	no	NA
IZUMO1	HGNC:28539	MGI:1920706	-	-	no	no	no	no	NA
IZUMO1R	HGNC:32565	MGI:1929185	-	-	yes	no	no	no	NA
IZUMO2	HGNC:28518	MGI:1922760	-	-	yes	no	no	no	NA
IZUMO3	HGNC:31421	MGI:1916564	-	-	no	no	no	no	NA
IZUMO4	HGNC:26950	MGI:1918814	-	-	no	no	no	no	NA
JADE1	HGNC:30027	MGI:1925835	-	-	yes	no	no	no	NA
JADE2	HGNC:22984	MGI:1924151	-	-	yes	no	no	no	NA
JADE3	HGNC:22982	MGI:2148019	-	-	no	no	no	no	NA
JAG1	HGNC:6188	MGI:1095416	OMIM:617992|OMIM:118450|OMIM:619574|OMIM:187500|ORPHA:3303|ORPHA:261600|ORPHA:261619	Deafness, Congenital Heart Defects, And Posterior Embryotoxon|Alagille Syndrome 1|Charcot-Marie-Tooth Disease, Axonal, Type 2Hh|Tetralogy Of Fallot|Alagille Syndrome Due To 20P12 Microdeletion|Alagille Syndrome Due To A Jag1 Point Mutation	no	no	no	no	NA
JAG2	HGNC:6189	MGI:1098270	OMIM:619566	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	yes	yes	yes	no	NA
JAGN1	HGNC:26926	MGI:1915017	OMIM:616022|ORPHA:423384	Neutropenia, Severe Congenital, 6, Autosomal Recessive|Autosomal Recessive Severe Congenital Neutropenia Due To Jagn1 Deficiency	no	no	no	no	NA
JAK1	HGNC:6190	MGI:96628	OMIM:618999|ORPHA:574957	Autoinflammation, Immune Dysregulation, And Eosinophilia|Autosomal Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Jak1 Deficiency	no	no	no	no	NA
JAK2	HGNC:6192	MGI:96629	OMIM:601626|OMIM:133100|OMIM:254450|OMIM:263300|OMIM:614521|OMIM:600880|ORPHA:131|ORPHA:3318|ORPHA:824|ORPHA:729|ORPHA:71493	Leukemia, Acute Myeloid|Erythrocytosis, Familial, 1|Myelofibrosis|Polycythemia Vera|Thrombocythemia 3|Budd-Chiari Syndrome|Essential Thrombocythemia|Primary Myelofibrosis|Familial Thrombocytosis	no	no	no	no	NA
JAK3	HGNC:6193	MGI:99928	OMIM:600802|ORPHA:35078	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative|T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	yes	yes	yes	yes	44.04
JAKMIP1	HGNC:26460	MGI:1923321	-	-	no	no	no	no	NA
JAKMIP2	HGNC:29067	MGI:1923467	-	-	yes	no	no	no	NA
JAKMIP3	HGNC:23523	MGI:1921254	-	-	yes	no	no	no	NA
JAM2	HGNC:14686	MGI:1933820	OMIM:618824|ORPHA:1980	Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive|Bilateral Striopallidodentate Calcinosis	yes	yes	yes	yes	22.395
JAM3	HGNC:15532	MGI:1933825	OMIM:613730|ORPHA:306547	Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts|Porencephaly-Microcephaly-Bilateral Congenital Cataract Syndrome	yes	yes	yes	yes	27.215
JAML	HGNC:19084	MGI:2685484	-	-	no	no	no	no	NA
JARID2	HGNC:6196	MGI:104813	OMIM:620098|ORPHA:528084	Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies|Non-Specific Syndromic Intellectual Disability	yes	yes	yes	no	NA
JAZF1	HGNC:28917	MGI:2141450	ORPHA:536|ORPHA:213711	Systemic Lupus Erythematosus|Endometrial Stromal Sarcoma	yes	yes	yes	no	NA
JCAD	HGNC:29283	MGI:2685174	-	-	yes	no	no	no	NA
JCHAIN	HGNC:5713	MGI:96493	-	-	no	no	no	no	NA
JDP2	HGNC:17546	MGI:1932093	-	-	no	no	no	no	NA
JHY	HGNC:26288	MGI:1918239	-	-	no	no	no	no	NA
JKAMP	HGNC:20184	MGI:1915057	-	-	no	no	no	no	NA
JMJD1C	HGNC:12313	MGI:1918614	ORPHA:567|ORPHA:91352	22Q11.2 Deletion Syndrome|Germinoma Of The Central Nervous System	yes	yes	yes	yes	25.995
JMJD4	HGNC:25724	MGI:2144404	-	-	yes	no	no	no	NA
JMJD6	HGNC:19355	MGI:1858910	-	-	yes	no	no	no	NA
JMJD7	HGNC:34397	MGI:3845785	-	-	yes	no	no	no	NA
JMJD8	HGNC:14148	MGI:1919356	-	-	yes	no	no	no	NA
JMY	HGNC:28916	MGI:1913096	-	-	no	no	no	no	NA
JOSD1	HGNC:28953	MGI:1921408	-	-	yes	no	no	no	NA
JOSD2	HGNC:28853	MGI:1913374	-	-	no	no	no	no	NA
JPH1	HGNC:14201	MGI:1891495	OMIM:607831	Charcot-Marie-Tooth Disease, Axonal, Type 2K	no	no	no	no	NA
JPH2	HGNC:14202	MGI:1891496	OMIM:619492|OMIM:613873|ORPHA:154|ORPHA:155	Cardiomyopathy, Dilated, 2E|Cardiomyopathy, Familial Hypertrophic, 17|Familial Isolated Dilated Cardiomyopathy|Non Rare In Europe: Familial Isolated Hypertrophic Cardiomyopathy	no	no	no	no	NA
JPH3	HGNC:14203	MGI:1891497	OMIM:606438|ORPHA:98934	Huntington Disease-Like 2	no	no	no	no	NA
JPH4	HGNC:20156	MGI:2443113	-	-	no	no	no	no	NA
JPT1	HGNC:14569	MGI:1096361	-	-	yes	no	no	no	NA
JPT2	HGNC:14137	MGI:1196260	-	-	no	no	no	no	NA
JRK	HGNC:6199	MGI:106214	ORPHA:307|ORPHA:64280	Juvenile Myoclonic Epilepsy|Childhood Absence Epilepsy	no	no	no	no	NA
JRKL	HGNC:6200	MGI:1924782	-	-	no	no	no	no	NA
JSRP1	HGNC:24963	MGI:1916700	-	-	no	no	no	no	NA
JTB	HGNC:6201	MGI:1346082	-	-	yes	no	no	no	NA
JUN	HGNC:6204	MGI:96646	-	-	yes	no	no	no	NA
JUNB	HGNC:6205	MGI:96647	-	-	yes	no	no	no	NA
JUND	HGNC:6206	MGI:96648	-	-	no	no	no	no	NA
JUP	HGNC:6207	MGI:96650	OMIM:611528|OMIM:601214|ORPHA:158687|ORPHA:293910|ORPHA:293899|ORPHA:293888|ORPHA:34217	Arrhythmogenic Right Ventricular Dysplasia, Familial, 12|Naxos Disease|Lethal Acantholytic Erosive Disorder|Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form|Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form|Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form	yes	yes	yes	yes	29.055
KALRN	HGNC:4814	MGI:2685385	-	-	no	no	no	no	NA
KANK1	HGNC:19309	MGI:2147707	OMIM:612900|ORPHA:210141	Cerebral Palsy, Spastic Quadriplegic, 2|Inherited Congenital Spastic Tetraplegia	yes	yes	yes	no	NA
KANK2	HGNC:29300	MGI:2384568	OMIM:617783|OMIM:616099|ORPHA:420686	Nephrotic Syndrome, Type 16|Palmoplantar Keratoderma And Woolly Hair|Woolly Hair-Palmoplantar Keratoderma Syndrome	no	no	no	no	NA
KANK3	HGNC:24796	MGI:1098615	-	-	no	no	no	no	NA
KANK4	HGNC:27263	MGI:3043381	-	-	no	no	no	no	NA
KANSL1	HGNC:24565	MGI:1923969	OMIM:610443|ORPHA:363965|ORPHA:363958	Koolen-De Vries Syndrome|Koolen-De Vries Syndrome Due To A Point Mutation|17Q21.31 Microdeletion Syndrome	no	no	no	no	NA
KANSL1L	HGNC:26310	MGI:1915941	-	-	yes	no	no	no	NA
KANSL2	HGNC:26024	MGI:1916862	-	-	no	no	no	no	NA
KANSL3	HGNC:25473	MGI:1918055	-	-	yes	no	no	no	NA
KARS1	HGNC:6215	MGI:1934754	OMIM:613641|OMIM:613916|OMIM:619196|OMIM:619147|ORPHA:254334|ORPHA:3240|ORPHA:90636	Charcot-Marie-Tooth Disease, Recessive Intermediate B|Deafness, Autosomal Recessive 89|Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy|Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness|Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type B|Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	yes	yes	yes	yes	40.815
KASH5	HGNC:26520	MGI:2687329	OMIM:620548|OMIM:620547	Premature Ovarian Failure 22|Spermatogenic Failure 88	yes	yes	yes	no	NA
KAT14	HGNC:15904	MGI:1917264	-	-	yes	no	no	no	NA
KAT2A	HGNC:4201	MGI:1343101	-	-	no	no	no	no	NA
KAT2B	HGNC:8638	MGI:1343094	-	-	yes	no	no	no	NA
KAT5	HGNC:5275	MGI:1932051	OMIM:619103	Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	yes	yes	yes	no	NA
KAT6A	HGNC:13013	MGI:2442415	OMIM:616268|ORPHA:370026|ORPHA:457193	Arboleda-Tham Syndrome|Acute Myeloid Leukemia With T(8;16)(P11;P13) Translocation|Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	no	no	no	no	NA
KAT6B	HGNC:17582	MGI:1858746	OMIM:606170|OMIM:603736|ORPHA:3047|ORPHA:85201	Genitopatellar Syndrome|Ohdo Syndrome, Sbbys Variant|Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	no	no	no	no	NA
KAT7	HGNC:17016	MGI:2182799	-	-	no	no	no	no	NA
KAT8	HGNC:17933	MGI:1915023	OMIM:618974|ORPHA:528084	Li-Ghorbani-Weisz-Hubshman Syndrome|Non-Specific Syndromic Intellectual Disability	yes	yes	yes	yes	26.15
KATNA1	HGNC:6216	MGI:1344353	-	-	yes	no	no	no	NA
KATNAL1	HGNC:28361	MGI:2387638	-	-	yes	no	no	no	NA
KATNAL2	HGNC:25387	MGI:1924234	-	-	yes	no	no	no	NA
KATNB1	HGNC:6217	MGI:1921437	OMIM:616212|ORPHA:89844	Lissencephaly 6 With Microcephaly|Lissencephaly Syndrome, Norman-Roberts Type	yes	yes	yes	no	NA
KATNBL1	HGNC:26199	MGI:1919675	-	-	no	no	no	no	NA
KATNIP	HGNC:29068	MGI:2442760	OMIM:616784|ORPHA:475	Joubert Syndrome 26|Joubert Syndrome	yes	yes	yes	yes	35.205
KAZALD1	HGNC:25460	MGI:2147606	-	-	no	no	no	no	NA
KAZN	HGNC:29173	MGI:1918779	-	-	yes	no	no	no	NA
KBTBD11	HGNC:29104	MGI:1922151	-	-	yes	no	no	no	NA
KBTBD12	HGNC:25731	MGI:1918481	-	-	yes	no	no	no	NA
KBTBD13	HGNC:37227	MGI:1921742	OMIM:609273|ORPHA:171439	Nemaline Myopathy 6|Childhood-Onset Nemaline Myopathy	yes	no	yes	no	NA
KBTBD2	HGNC:21751	MGI:2384811	-	-	no	no	no	no	NA
KBTBD3	HGNC:22934	MGI:1916399	-	-	yes	no	no	no	NA
KBTBD4	HGNC:23761	MGI:1914386	-	-	no	no	no	no	NA
KBTBD7	HGNC:25266	MGI:2685141	-	-	yes	no	no	no	NA
KBTBD8	HGNC:30691	MGI:2661430	-	-	yes	no	no	no	NA
KCMF1	HGNC:20589	MGI:1921537	-	-	no	no	no	no	NA
KCNA1	HGNC:6218	MGI:96654	OMIM:160120|ORPHA:199326|ORPHA:1934|ORPHA:972|ORPHA:37612|ORPHA:98809	Episodic Ataxia, Type 1|Isolated Autosomal Dominant Hypomagnesemia, Glaudemans Type|Early Infantile Epileptic Encephalopathy|Hereditary Continuous Muscle Fiber Activity|Episodic Ataxia Type 1|Paroxysmal Kinesigenic Dyskinesia	yes	no	yes	no	NA
KCNA10	HGNC:6219	MGI:3037820	-	-	yes	no	no	no	NA
KCNA2	HGNC:6220	MGI:96659	OMIM:616366|ORPHA:442835	Developmental And Epileptic Encephalopathy 32|Non-Specific Early-Onset Epileptic Encephalopathy	yes	yes	yes	no	NA
KCNA3	HGNC:6221	MGI:96660	-	-	no	no	no	no	NA
KCNA4	HGNC:6222	MGI:96661	OMIM:618284	Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum	no	no	no	no	NA
KCNA5	HGNC:6224	MGI:96662	OMIM:612240|ORPHA:334	Atrial Fibrillation, Familial, 7|Familial Atrial Fibrillation	yes	yes	yes	no	NA
KCNA6	HGNC:6225	MGI:96663	-	-	yes	no	no	no	NA
KCNA7	HGNC:6226	MGI:96664	-	-	yes	no	no	no	NA
KCNAB1	HGNC:6228	MGI:109155	-	-	no	no	no	no	NA
KCNAB2	HGNC:6229	MGI:109239	ORPHA:1606	1P36 Deletion Syndrome	yes	yes	yes	yes	27.575
KCNAB3	HGNC:6230	MGI:1336208	-	-	yes	no	no	no	NA
KCNB1	HGNC:6231	MGI:96666	OMIM:616056|ORPHA:442835	Developmental And Epileptic Encephalopathy 26|Non-Specific Early-Onset Epileptic Encephalopathy	yes	yes	yes	yes	45.165
KCNB2	HGNC:6232	MGI:99632	-	-	yes	no	no	no	NA
KCNC1	HGNC:6233	MGI:96667	OMIM:616187|ORPHA:435438	Epilepsy, Progressive Myoclonic 7|Progressive Myoclonic Epilepsy Type 7	yes	yes	yes	yes	39.825
KCNC2	HGNC:6234	MGI:96668	OMIM:619913	Developmental And Epileptic Encephalopathy 103	yes	no	yes	no	NA
KCNC3	HGNC:6235	MGI:96669	OMIM:605259|ORPHA:98768	Spinocerebellar Ataxia 13|Spinocerebellar Ataxia Type 13	yes	yes	yes	yes	30.07
KCNC4	HGNC:6236	MGI:96670	-	-	yes	no	no	no	NA
KCND1	HGNC:6237	MGI:96671	-	-	yes	no	no	no	NA
KCND2	HGNC:6238	MGI:102663	-	-	no	no	no	no	NA
KCND3	HGNC:6239	MGI:1928743	OMIM:616399|OMIM:607346|ORPHA:130|ORPHA:98772	Brugada Syndrome 9|Spinocerebellar Ataxia 19|Brugada Syndrome|Spinocerebellar Ataxia Type 19/22	yes	yes	yes	yes	44.94
KCNE1	HGNC:6240	MGI:96673	OMIM:612347|OMIM:613695|ORPHA:334|ORPHA:90647|ORPHA:101016	Jervell And Lange-Nielsen Syndrome 2|Long Qt Syndrome 5|Familial Atrial Fibrillation|Jervell And Lange-Nielsen Syndrome|Romano-Ward Syndrome	yes	yes	yes	yes	31.225
KCNE2	HGNC:6242	MGI:1891123	OMIM:611493|OMIM:613693|ORPHA:334|ORPHA:101016	Atrial Fibrillation, Familial, 4|Long Qt Syndrome 6|Familial Atrial Fibrillation|Romano-Ward Syndrome	yes	yes	yes	yes	34.64
KCNE3	HGNC:6243	MGI:1891124	OMIM:613119|ORPHA:681|ORPHA:130	Brugada Syndrome 6|Hypokalemic Periodic Paralysis|Brugada Syndrome	yes	yes	yes	yes	32.03
KCNE4	HGNC:6244	MGI:1891125	-	-	no	no	no	no	NA
KCNE5	HGNC:6241	MGI:1913490	ORPHA:130|ORPHA:86818	Brugada Syndrome|Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	no	no	no	no	NA
KCNF1	HGNC:6246	MGI:2687399	-	-	yes	no	no	no	NA
KCNG1	HGNC:6248	MGI:3616086	-	-	yes	no	no	no	NA
KCNG2	HGNC:6249	MGI:3694646	-	-	yes	no	no	no	NA
KCNG3	HGNC:18306	MGI:2663923	-	-	yes	no	no	no	NA
KCNG4	HGNC:19697	MGI:1913983	-	-	yes	no	no	no	NA
KCNH1	HGNC:6250	MGI:1341721	OMIM:611816|OMIM:135500|ORPHA:3473|ORPHA:420561	Temple-Baraitser Syndrome|Zimmermann-Laband Syndrome 1|Zimmermann-Laband Syndrome	no	no	no	no	NA
KCNH2	HGNC:6251	MGI:1341722	OMIM:613688|OMIM:609620|ORPHA:51083|ORPHA:101016	Long Qt Syndrome 2|Short Qt Syndrome 1|Familial Short Qt Syndrome|Romano-Ward Syndrome	no	no	no	no	NA
KCNH3	HGNC:6252	MGI:1341723	-	-	yes	no	no	no	NA
KCNH4	HGNC:6253	MGI:2156184	-	-	yes	no	no	no	NA
KCNH5	HGNC:6254	MGI:3584508	OMIM:620537	Developmental And Epileptic Encephalopathy 112	no	no	no	no	NA
KCNH6	HGNC:18862	MGI:2684139	-	-	yes	no	no	no	NA
KCNH7	HGNC:18863	MGI:2159566	-	-	yes	no	no	no	NA
KCNH8	HGNC:18864	MGI:2445160	-	-	yes	no	no	no	NA
KCNIP1	HGNC:15521	MGI:1917607	-	-	yes	no	no	no	NA
KCNIP2	HGNC:15522	MGI:2135916	-	-	no	no	no	no	NA
KCNIP3	HGNC:15523	MGI:1929258	-	-	yes	no	no	no	NA
KCNIP4	HGNC:30083	MGI:1933131	-	-	yes	no	no	no	NA
KCNJ1	HGNC:6255	MGI:1927248	OMIM:241200|ORPHA:620220	Bartter Syndrome, Type 2, Antenatal|Bartter Syndrome Type 2	no	no	no	no	NA
KCNJ10	HGNC:6256	MGI:1194504	OMIM:600791|OMIM:612780|ORPHA:705|ORPHA:199343	Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct|Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance|Pendred Syndrome|East Syndrome	yes	yes	yes	yes	40
KCNJ11	HGNC:6257	MGI:107501	OMIM:125853|OMIM:610582|OMIM:618856|OMIM:601820|OMIM:616329|ORPHA:276580|ORPHA:276603|ORPHA:552|ORPHA:79134|ORPHA:79644|ORPHA:99989|ORPHA:99885|ORPHA:99886	Type 2 Diabetes Mellitus|Diabetes Mellitus, Transient Neonatal, 3|Diabetes Mellitus, Permanent Neonatal, 2|Hyperinsulinemic Hypoglycemia, Familial, 2|Maturity-Onset Diabetes Of The Young, Type 13|Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency|Diazoxide-Resistant Focal Hyperinsulinism Due To Kir6.2 Deficiency|Mody|Dend Syndrome|Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency|Intermediate Dend Syndrome|Isolated Permanent Neonatal Diabetes Mellitus|Transient Neonatal Diabetes Mellitus	yes	yes	yes	yes	60.545
KCNJ13	HGNC:6259	MGI:3781032	OMIM:614186|OMIM:193230|ORPHA:65|ORPHA:91496	Leber Congenital Amaurosis 16|Vitreoretinal Degeneration, Snowflake Type|Leber Congenital Amaurosis|Snowflake Vitreoretinal Degeneration	yes	yes	yes	yes	16.175
KCNJ14	HGNC:6260	MGI:2384820	-	-	yes	no	no	no	NA
KCNJ15	HGNC:6261	MGI:1310000	-	-	no	no	no	no	NA
KCNJ16	HGNC:6262	MGI:1314842	OMIM:619406	Hypokalemic Tubulopathy And Deafness	yes	yes	yes	no	NA
KCNJ2	HGNC:6263	MGI:104744	OMIM:170390|OMIM:613980|OMIM:609622|ORPHA:334|ORPHA:37553|ORPHA:51083	Andersen Cardiodysrhythmic Periodic Paralysis|Atrial Fibrillation, Familial, 9|Short Qt Syndrome 3|Familial Atrial Fibrillation|Andersen-Tawil Syndrome|Familial Short Qt Syndrome	no	no	no	no	NA
KCNJ3	HGNC:6264	MGI:104742	ORPHA:334	Familial Atrial Fibrillation	yes	yes	yes	yes	33.205
KCNJ4	HGNC:6265	MGI:104743	-	-	no	no	no	no	NA
KCNJ5	HGNC:6266	MGI:104755	OMIM:613677|OMIM:613485|ORPHA:251274|ORPHA:334|ORPHA:37553|ORPHA:85142|ORPHA:101016	Hyperaldosteronism, Familial, Type Iii|Long Qt Syndrome 13|Familial Hyperaldosteronism Type Iii|Familial Atrial Fibrillation|Andersen-Tawil Syndrome|Non Rare In Europe: Aldosterone-Producing Adenoma|Romano-Ward Syndrome	no	no	no	no	NA
KCNJ6	HGNC:6267	MGI:104781	OMIM:614098|ORPHA:435628	Keppen-Lubinsky Syndrome	yes	yes	yes	yes	18.485
KCNJ8	HGNC:6269	MGI:1100508	ORPHA:1517|ORPHA:130	Cantú Syndrome|Brugada Syndrome	yes	no	yes	no	NA
KCNJ9	HGNC:6270	MGI:108007	-	-	yes	no	no	no	NA
KCNK1	HGNC:6272	MGI:109322	-	-	no	no	no	no	NA
KCNK10	HGNC:6273	MGI:1919508	-	-	no	no	no	no	NA
KCNK12	HGNC:6274	MGI:2684043	-	-	no	no	no	no	NA
KCNK13	HGNC:6275	MGI:2384976	-	-	yes	no	no	no	NA
KCNK15	HGNC:13814	MGI:2675209	-	-	no	no	no	no	NA
KCNK16	HGNC:14464	MGI:1921821	-	-	yes	no	no	no	NA
KCNK18	HGNC:19439	MGI:2685627	OMIM:613656	Migraine With Aura, Susceptibility To, 13	yes	yes	yes	no	NA
KCNK2	HGNC:6277	MGI:109366	-	-	yes	no	no	no	NA
KCNK3	HGNC:6278	MGI:1100509	OMIM:615344|ORPHA:275777	Pulmonary Hypertension, Primary, 4|Heritable Pulmonary Arterial Hypertension	no	no	no	no	NA
KCNK4	HGNC:6279	MGI:1298234	OMIM:618381|ORPHA:598603	Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome|Facial Dysmorphism-Hypertrichosis-Epilepsy-Intellectual Disability/Developmental Delay-Gingival Overgrowth Syndrome	no	no	no	no	NA
KCNK5	HGNC:6280	MGI:1336175	-	-	no	no	no	no	NA
KCNK6	HGNC:6281	MGI:1891291	-	-	no	no	no	no	NA
KCNK7	HGNC:6282	MGI:1341841	-	-	no	no	no	no	NA
KCNK9	HGNC:6283	MGI:3521816	OMIM:612292|ORPHA:166108	Birk-Barel Syndrome|Intellectual Disability, Birk-Barel Type	no	no	no	no	NA
KCNMA1	HGNC:6284	MGI:99923	OMIM:617643|OMIM:618729|OMIM:609446|OMIM:618596|ORPHA:3473|ORPHA:79137	Cerebellar Atrophy, Developmental Delay, And Seizures|Liang-Wang Syndrome|Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy|Epilepsy, Idiopathic Generalized, Susceptibility To, 16|Zimmermann-Laband Syndrome|Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome	yes	yes	yes	yes	41.74
KCNMB1	HGNC:6285	MGI:1334203	OMIM:608622	Hypertension, Diastolic, Resistance To	no	no	no	no	NA
KCNMB2	HGNC:6286	MGI:1919663	-	-	no	no	no	no	NA
KCNMB3	HGNC:6287	MGI:3612244	-	-	no	no	no	no	NA
KCNMB4	HGNC:6289	MGI:1913272	-	-	yes	no	no	no	NA
KCNN1	HGNC:6290	MGI:1933993	-	-	yes	no	no	no	NA
KCNN2	HGNC:6291	MGI:2153182	OMIM:619724|OMIM:619725	Dystonia 34, Myoclonic|Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	no	no	no	no	NA
KCNN3	HGNC:6292	MGI:2153183	OMIM:618658|ORPHA:3473	Zimmermann-Laband Syndrome 3|Zimmermann-Laband Syndrome	no	no	no	no	NA
KCNN4	HGNC:6293	MGI:1277957	OMIM:616689|ORPHA:586|ORPHA:3202	Dehydrated Hereditary Stomatocytosis 2|Cystic Fibrosis|Dehydrated Hereditary Stomatocytosis	yes	yes	yes	yes	53.41
KCNQ1	HGNC:6294	MGI:108083	OMIM:607554|OMIM:220400|OMIM:192500|OMIM:609621|ORPHA:334|ORPHA:51083|ORPHA:90647|ORPHA:101016	Atrial Fibrillation, Familial, 3|Jervell And Lange-Nielsen Syndrome 1|Long Qt Syndrome 1|Short Qt Syndrome 2|Familial Atrial Fibrillation|Familial Short Qt Syndrome|Jervell And Lange-Nielsen Syndrome|Romano-Ward Syndrome	no	no	no	no	NA
KCNQ2	HGNC:6296	MGI:1309503	OMIM:613720|OMIM:121200|ORPHA:178469|ORPHA:1949|ORPHA:140927|ORPHA:306|ORPHA:293181|ORPHA:439218	Developmental And Epileptic Encephalopathy 7|Seizures, Benign Familial Neonatal, 1|Autosomal Dominant Non-Syndromic Intellectual Disability|Benign Familial Neonatal Epilepsy|Benign Familial Neonatal-Infantile Seizures|Benign Familial Infantile Epilepsy|Malignant Migrating Focal Seizures Of Infancy|Kcnq2-Related Epileptic Encephalopathy	no	no	no	no	NA
KCNQ3	HGNC:6297	MGI:1336181	OMIM:121201|ORPHA:307|ORPHA:1949|ORPHA:306	Seizures, Benign Familial Neonatal, 2|Juvenile Myoclonic Epilepsy|Benign Familial Neonatal Epilepsy|Benign Familial Infantile Epilepsy	yes	yes	yes	yes	31.6
KCNQ4	HGNC:6298	MGI:1926803	OMIM:600101|ORPHA:90635	Deafness, Autosomal Dominant 2A|Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	no	no	no	no	NA
KCNQ5	HGNC:6299	MGI:1924937	OMIM:617601|ORPHA:178469	Intellectual Developmental Disorder, Autosomal Dominant 46|Autosomal Dominant Non-Syndromic Intellectual Disability	yes	no	yes	no	NA
KCNRG	HGNC:18893	MGI:2685591	-	-	no	no	no	no	NA
KCNS1	HGNC:6300	MGI:1197019	-	-	yes	no	no	no	NA
KCNS2	HGNC:6301	MGI:1197011	-	-	yes	no	no	no	NA
KCNS3	HGNC:6302	MGI:1098804	-	-	yes	no	no	no	NA
KCNT1	HGNC:18865	MGI:1924627	OMIM:614959|OMIM:615005|ORPHA:293181|ORPHA:98784	Developmental And Epileptic Encephalopathy 14|Epilepsy, Nocturnal Frontal Lobe, 5|Malignant Migrating Focal Seizures Of Infancy|Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	yes	yes	yes	yes	46.68
KCNT2	HGNC:18866	MGI:3036273	OMIM:617771	Developmental And Epileptic Encephalopathy 57	yes	yes	yes	no	NA
KCNU1	HGNC:18867	MGI:1202300	OMIM:620196	Spermatogenic Failure 79	no	no	no	no	NA
KCNV1	HGNC:18861	MGI:1914748	-	-	yes	no	no	no	NA
KCNV2	HGNC:19698	MGI:2670981	OMIM:610356|ORPHA:209932	Retinal Cone Dystrophy 3B|Cone Dystrophy With Supernormal Rod Response	yes	yes	yes	no	NA
KCP	HGNC:17585	MGI:2141640	-	-	no	no	no	no	NA
KCTD1	HGNC:18249	MGI:1918269	OMIM:181270|ORPHA:2036	Scalp-Ear-Nipple Syndrome	yes	yes	yes	yes	38.74
KCTD10	HGNC:23236	MGI:2141207	-	-	yes	no	no	no	NA
KCTD11	HGNC:21302	MGI:2448712	-	-	yes	no	no	no	NA
KCTD12	HGNC:14678	MGI:2145823	-	-	no	no	no	no	NA
KCTD13	HGNC:22234	MGI:1923739	-	-	yes	no	no	no	NA
KCTD14	HGNC:23295	MGI:1289222	-	-	no	no	no	no	NA
KCTD15	HGNC:23297	MGI:2385276	-	-	yes	no	no	no	NA
KCTD16	HGNC:29244	MGI:1914659	-	-	yes	no	no	no	NA
KCTD17	HGNC:25705	MGI:1920094	OMIM:616398|ORPHA:36899	Dystonia 26, Myoclonic|Myoclonus-Dystonia Syndrome	yes	yes	yes	no	NA
KCTD18	HGNC:26446	MGI:3603813	-	-	no	no	no	no	NA
KCTD19	HGNC:24753	MGI:3045294	-	-	yes	no	no	no	NA
KCTD2	HGNC:21294	MGI:1917632	-	-	yes	no	no	no	NA
KCTD20	HGNC:21052	MGI:1914239	-	-	no	no	no	no	NA
KCTD21	HGNC:27452	MGI:3643121	-	-	no	no	no	no	NA
KCTD3	HGNC:21305	MGI:2444629	-	-	yes	no	no	no	NA
KCTD4	HGNC:23227	MGI:1914766	-	-	no	no	no	no	NA
KCTD5	HGNC:21423	MGI:1916509	-	-	yes	no	no	no	NA
KCTD6	HGNC:22235	MGI:1918643	-	-	no	no	no	no	NA
KCTD7	HGNC:21957	MGI:2442265	OMIM:611726|ORPHA:263516	Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions|Progressive Myoclonic Epilepsy Type 3	yes	yes	yes	no	NA
KCTD8	HGNC:22394	MGI:2443804	-	-	no	no	no	no	NA
KCTD9	HGNC:22401	MGI:2145579	-	-	yes	no	no	no	NA
KDELR1	HGNC:6304	MGI:1915387	-	-	no	no	no	no	NA
KDELR2	HGNC:6305	MGI:1914163	OMIM:619131	Osteogenesis Imperfecta, Type Xxi	yes	yes	yes	yes	28.47
KDELR3	HGNC:6306	MGI:2145953	-	-	no	no	no	no	NA
KDF1	HGNC:26624	MGI:1916323	OMIM:617337|ORPHA:1810	Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type|Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	no	no	no	no	NA
KDM1A	HGNC:29079	MGI:1196256	OMIM:616728|ORPHA:477993	Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features|Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	yes	yes	yes	yes	19.125
KDM1B	HGNC:21577	MGI:2145261	-	-	no	no	no	no	NA
KDM2A	HGNC:13606	MGI:1354736	-	-	no	no	no	no	NA
KDM2B	HGNC:13610	MGI:1354737	-	-	yes	no	no	no	NA
KDM3A	HGNC:20815	MGI:98847	-	-	yes	no	no	no	NA
KDM3B	HGNC:1337	MGI:1923356	OMIM:618846|ORPHA:633004	Diets-Jongmans Syndrome|Kdm3B-Related Intellectual Disability-Facial Dysmorphism-Short Stature Syndrome	yes	yes	yes	yes	22.13
KDM4A	HGNC:22978	MGI:2446210	-	-	yes	no	no	no	NA
KDM4B	HGNC:29136	MGI:2442355	OMIM:619320|ORPHA:528084	Intellectual Developmental Disorder, Autosomal Dominant 65|Non-Specific Syndromic Intellectual Disability	yes	yes	yes	no	NA
KDM4C	HGNC:17071	MGI:1924054	-	-	yes	no	no	no	NA
KDM5A	HGNC:9886	MGI:2136980	-	-	yes	no	no	no	NA
KDM5B	HGNC:18039	MGI:1922855	OMIM:618109|ORPHA:178469|ORPHA:88616	Intellectual Developmental Disorder, Autosomal Recessive 65|Autosomal Dominant Non-Syndromic Intellectual Disability|Autosomal Recessive Non-Syndromic Intellectual Disability	yes	yes	yes	no	NA
KDM5C	HGNC:11114	MGI:99781	OMIM:300534|ORPHA:85279	Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type|Kdm5C-Related Syndromic X-Linked Intellectual Disability	yes	yes	yes	no	NA
KDM5D	HGNC:11115	MGI:99780	-	-	yes	no	no	no	NA
KDM6A	HGNC:12637	MGI:1095419	OMIM:300867|ORPHA:2322	Kabuki Syndrome 2|Kabuki Syndrome	no	no	no	no	NA
KDM6B	HGNC:29012	MGI:2448492	OMIM:618505	Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	no	no	no	no	NA
KDM7A	HGNC:22224	MGI:2443388	-	-	yes	no	no	no	NA
KDM8	HGNC:25840	MGI:1924285	-	-	yes	no	no	no	NA
KDR	HGNC:6307	MGI:96683	OMIM:602089|ORPHA:3303|ORPHA:464293	Hemangioma, Capillary Infantile|Tetralogy Of Fallot|Non Rare In Europe: Infantile Capillary Hemangioma	no	no	no	no	NA
KDSR	HGNC:4021	MGI:1918000	OMIM:617526|ORPHA:317|ORPHA:316	Erythrokeratodermia Variabilis Et Progressiva 4|Erythrokeratodermia Variabilis|Progressive Symmetric Erythrokeratodermia	no	no	no	no	NA
KEAP1	HGNC:23177	MGI:1858732	ORPHA:276399	Familial Multinodular Goiter	no	no	no	no	NA
KEL	HGNC:6308	MGI:1346053	OMIM:110900	Blood Group--Kell System	no	no	no	no	NA
KERA	HGNC:6309	MGI:1202398	OMIM:217300|ORPHA:53691	Cornea Plana 2, Autosomal Recessive|Congenital Cornea Plana	yes	yes	yes	no	NA
KGD4	HGNC:16631	MGI:1913378	-	-	yes	no	no	no	NA
KHDC3L	HGNC:33699	MGI:1914241	OMIM:614293|ORPHA:254693|ORPHA:254688	Hydatidiform Mole, Recurrent, 2|Partial Hydatidiform Mole|Complete Hydatidiform Mole	no	no	no	no	NA
KHDC4	HGNC:29145	MGI:1921450	-	-	no	no	no	no	NA
KHDRBS1	HGNC:18116	MGI:893579	-	-	no	no	no	no	NA
KHDRBS2	HGNC:18114	MGI:2159649	-	-	no	no	no	no	NA
KHDRBS3	HGNC:18117	MGI:1313312	-	-	yes	no	no	no	NA
KHK	HGNC:6315	MGI:1096353	OMIM:229800|ORPHA:2056	Fructosuria, Essential|Essential Fructosuria	no	no	no	no	NA
KHNYN	HGNC:20166	MGI:2451333	-	-	no	no	no	no	NA
KHSRP	HGNC:6316	MGI:1336214	-	-	yes	no	no	no	NA
KIAA0040	HGNC:28950	MGI:1914897	-	-	no	no	no	no	NA
KIAA0232	HGNC:28992	MGI:1261849	-	-	yes	no	no	no	NA
KIAA0319	HGNC:21580	MGI:3036268	-	-	yes	no	no	no	NA
KIAA0319L	HGNC:30071	MGI:2140475	ORPHA:536|ORPHA:220402	Systemic Lupus Erythematosus|Limited Cutaneous Systemic Sclerosis	yes	yes	yes	yes	30.985
KIAA0408	HGNC:21636	MGI:3036239	-	-	no	no	no	no	NA
KIAA0513	HGNC:29058	MGI:2443793	-	-	yes	no	no	no	NA
KIAA0586	HGNC:19960	MGI:1924217	OMIM:616490|OMIM:616546|ORPHA:475|ORPHA:397715	Joubert Syndrome 23|Short-Rib Thoracic Dysplasia 14 With Polydactyly|Joubert Syndrome|Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	no	no	no	no	NA
KIAA0825	HGNC:28532	MGI:1919621	OMIM:618498|ORPHA:93334	Polydactyly, Postaxial, Type A10|Postaxial Polydactyly Type A	yes	yes	yes	no	NA
KIAA0930	HGNC:1314	MGI:2444899	-	-	no	no	no	no	NA
KIAA1143	HGNC:29198	MGI:1913452	-	-	yes	no	no	no	NA
KIAA1191	HGNC:29209	MGI:1921162	-	-	no	no	no	no	NA
KIAA1210	HGNC:29218	MGI:3705243	-	-	yes	no	no	no	NA
KIAA1217	HGNC:25428	MGI:95454	-	-	yes	no	no	no	NA
KIAA1328	HGNC:29248	MGI:2147376	-	-	no	no	no	no	NA
KIAA1549	HGNC:22219	MGI:2669829	OMIM:618613|ORPHA:791|ORPHA:251615	Retinitis Pigmentosa 86|Retinitis Pigmentosa|Pilomyxoid Astrocytoma	yes	yes	yes	yes	40.72
KIAA1549L	HGNC:24836	MGI:2181743	-	-	yes	no	no	no	NA
KIAA1614	HGNC:29327	MGI:2672904	-	-	no	no	no	no	NA
KIAA1671	HGNC:29345	MGI:1920194	-	-	yes	no	no	no	NA
KIAA1755	HGNC:29372	MGI:3606579	-	-	no	no	no	no	NA
KIAA1958	HGNC:23427	MGI:2442164	-	-	yes	no	no	no	NA
KIAA2012	HGNC:51250	MGI:2685819	-	-	no	no	no	no	NA
KIAA2013	HGNC:28513	MGI:1924284	-	-	no	no	no	no	NA
KICS2	HGNC:26517	MGI:2670984	-	-	yes	no	no	no	NA
KIDINS220	HGNC:29508	MGI:1924730	OMIM:617296|OMIM:619501|ORPHA:521390	Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity|Ventriculomegaly And Arthrogryposis|Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	no	no	no	no	NA
KIF11	HGNC:6388	MGI:1098231	OMIM:152950|ORPHA:2526	Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development|Microcephaly-Lymphedema-Chorioretinopathy Syndrome	no	no	no	no	NA
KIF12	HGNC:21495	MGI:1098232	OMIM:619662	Cholestasis, Progressive Familial Intrahepatic, 8	no	no	no	no	NA
KIF13A	HGNC:14566	MGI:1098264	-	-	yes	no	no	no	NA
KIF13B	HGNC:14405	MGI:1098265	-	-	yes	no	no	no	NA
KIF14	HGNC:19181	MGI:1098226	OMIM:616258|OMIM:617914|ORPHA:2512|ORPHA:439897	Meckel Syndrome 12|Microcephaly 20, Primary, Autosomal Recessive|Autosomal Recessive Primary Microcephaly|Lethal Fetal Cerebrorenogenitourinary Agenesis/Hypoplasia Syndrome	no	no	no	no	NA
KIF15	HGNC:17273	MGI:1098258	OMIM:619981|ORPHA:261323	Braddock-Carey Syndrome 2|21Q22.11Q22.12 Microdeletion Syndrome	yes	no	yes	no	NA
KIF16B	HGNC:15869	MGI:1098240	-	-	yes	no	no	no	NA
KIF17	HGNC:19167	MGI:1098229	-	-	no	no	no	no	NA
KIF18A	HGNC:29441	MGI:2446977	-	-	no	no	no	no	NA
KIF18B	HGNC:27102	MGI:2446979	-	-	yes	no	no	no	NA
KIF19	HGNC:26735	MGI:2447024	-	-	no	no	no	no	NA
KIF1A	HGNC:888	MGI:108391	OMIM:614255|OMIM:614213|OMIM:610357|ORPHA:178469|ORPHA:970|ORPHA:2836|ORPHA:101010	Nescav Syndrome|Neuropathy, Hereditary Sensory, Type Iic|Spastic Paraplegia 30, Autosomal Dominant|Autosomal Dominant Non-Syndromic Intellectual Disability|Hereditary Sensory And Autonomic Neuropathy Type 2|Peho Syndrome|Autosomal Spastic Paraplegia Type 30	no	no	no	no	NA
KIF1B	HGNC:16636	MGI:108426	OMIM:118210|OMIM:256700|ORPHA:29072|ORPHA:99946	Charcot-Marie-Tooth Disease, Axonal, Type 2A1|Neuroblastoma, Susceptibility To, 1|Hereditary Pheochromocytoma-Paraganglioma|Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A1	yes	yes	yes	yes	31.695
KIF1C	HGNC:6317	MGI:1098260	OMIM:611302|ORPHA:397946	Spastic Ataxia 2, Autosomal Recessive|Autosomal Spastic Paraplegia Type 58	no	no	no	no	NA
KIF20A	HGNC:9787	MGI:1201682	OMIM:619433|ORPHA:75249	Cardiomyopathy, Familial Restrictive, 6|Familial Isolated Restrictive Cardiomyopathy	yes	yes	yes	no	NA
KIF20B	HGNC:7212	MGI:2444576	-	-	no	no	no	no	NA
KIF21A	HGNC:19349	MGI:109188	OMIM:135700|ORPHA:994|ORPHA:45358	Fibrosis Of Extraocular Muscles, Congenital, 1|Fetal Akinesia Deformation Sequence|Congenital Fibrosis Of Extraocular Muscles	yes	yes	yes	no	NA
KIF21B	HGNC:29442	MGI:109234	-	-	yes	no	no	no	NA
KIF22	HGNC:6391	MGI:109233	OMIM:603546|ORPHA:93360	Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2|Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	no	no	no	no	NA
KIF23	HGNC:6392	MGI:1919069	OMIM:105600|ORPHA:98870	Anemia, Congenital Dyserythropoietic, Type Iiia|Congenital Dyserythropoietic Anemia Type Iii	no	no	no	no	NA
KIF24	HGNC:19916	MGI:1918345	-	-	yes	no	no	no	NA
KIF26A	HGNC:20226	MGI:2447072	OMIM:620156	Cortical Dysplasia, Complex, With Other Brain Malformations 11	no	no	no	no	NA
KIF26B	HGNC:25484	MGI:2447076	-	-	yes	no	no	no	NA
KIF27	HGNC:18632	MGI:1922300	-	-	no	no	no	no	NA
KIF2A	HGNC:6318	MGI:108390	OMIM:615411	Cortical Dysplasia, Complex, With Other Brain Malformations 3	yes	yes	yes	no	NA
KIF2B	HGNC:29443	MGI:1920720	-	-	no	no	no	no	NA
KIF2C	HGNC:6393	MGI:1921054	-	-	yes	no	no	no	NA
KIF3A	HGNC:6319	MGI:107689	-	-	no	no	no	no	NA
KIF3B	HGNC:6320	MGI:107688	OMIM:618955	Retinitis Pigmentosa 89	yes	yes	yes	no	NA
KIF3C	HGNC:6321	MGI:107979	-	-	yes	no	no	no	NA
KIF5A	HGNC:6323	MGI:109564	OMIM:617235|OMIM:604187|OMIM:617921|ORPHA:324611|ORPHA:100991	Myoclonus, Intractable, Neonatal|Spastic Paraplegia 10, Autosomal Dominant|Amyotrophic Lateral Sclerosis, Susceptibility To, 25|Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Kif5A Mutation|Autosomal Dominant Spastic Paraplegia Type 10	yes	yes	yes	yes	29.375
KIF5B	HGNC:6324	MGI:1098268	-	-	no	no	no	no	NA
KIF5C	HGNC:6325	MGI:1098269	OMIM:615282	Cortical Dysplasia, Complex, With Other Brain Malformations 2	yes	yes	yes	no	NA
KIF6	HGNC:21202	MGI:1098238	-	-	yes	no	no	no	NA
KIF7	HGNC:30497	MGI:1098239	OMIM:607131|OMIM:614120|OMIM:200990|ORPHA:166024|ORPHA:36|ORPHA:2189|ORPHA:2754	Al-Gazali-Bakalinova Syndrome|Hydrolethalus Syndrome 2|Acrocallosal Syndrome|Multiple Epiphyseal Dysplasia, Al-Gazali Type|Hydrolethalus|Orofaciodigital Syndrome Type 6	no	no	no	no	NA
KIF9	HGNC:16666	MGI:1098237	-	-	yes	no	no	no	NA
KIFAP3	HGNC:17060	MGI:107566	-	-	yes	no	no	no	NA
KIFBP	HGNC:23419	MGI:1919570	OMIM:609460|ORPHA:66629	Goldberg-Shprintzen Syndrome|Goldberg-Shprintzen Megacolon Syndrome	yes	yes	yes	no	NA
KIFC2	HGNC:29530	MGI:109187	-	-	yes	no	no	no	NA
KIFC3	HGNC:6326	MGI:109202	-	-	yes	no	no	no	NA
KIN	HGNC:6327	MGI:96676	-	-	yes	no	no	no	NA
KIRREL1	HGNC:15734	MGI:1891396	OMIM:619201	Nephrotic Syndrome, Type 23	yes	yes	yes	no	NA
KIRREL2	HGNC:18816	MGI:2442334	-	-	no	no	no	no	NA
KIRREL3	HGNC:23204	MGI:1914953	ORPHA:178469	Autosomal Dominant Non-Syndromic Intellectual Disability	no	no	no	no	NA
KISS1	HGNC:6341	MGI:2663985	OMIM:614842|ORPHA:432	Hypogonadotropic Hypogonadism 13 With Or Without Anosmia|Normosmic Congenital Hypogonadotropic Hypogonadism	no	no	no	no	NA
KISS1R	HGNC:4510	MGI:2148793	OMIM:176400|OMIM:614837|ORPHA:432|ORPHA:650097|ORPHA:650077	Precocious Puberty, Central, 1|Hypogonadotropic Hypogonadism 8 With Or Without Anosmia|Normosmic Congenital Hypogonadotropic Hypogonadism|Genetic Central Precocious Puberty In Male|Genetic Central Precocious Puberty In Female	yes	yes	yes	yes	64.2
KIT	HGNC:6342	MGI:96677	OMIM:601626|OMIM:606764|OMIM:273300|OMIM:154800|OMIM:172800|ORPHA:158769|ORPHA:158766|ORPHA:158778|ORPHA:158775|ORPHA:158772|ORPHA:2884|ORPHA:842|ORPHA:280785|ORPHA:280794|ORPHA:566393|ORPHA:566396|ORPHA:44890|ORPHA:90389|ORPHA:79455|ORPHA:98834|ORPHA:98829|ORPHA:98849|ORPHA:102724	Leukemia, Acute Myeloid|Gastrointestinal Stromal Tumor|Testicular Germ Cell Tumor|Mastocytosis, Cutaneous|Piebald Trait|Plaque-Form Urticaria Pigmentosa|Typical Urticaria Pigmentosa|Isolated Bone Marrow Mastocytosis|Smoldering Systemic Mastocytosis|Nodular Urticaria Pigmentosa|Piebaldism|Testicular Seminomatous Germ Cell Tumor|Bullous Diffuse Cutaneous Mastocytosis|Pseudoxanthomatous Diffuse Cutaneous Mastocytosis|Acute Mast Cell Leukemia|Chronic Mast Cell Leukemia|Telangiectasia Macularis Eruptiva Perstans|Cutaneous Mastocytoma|Acute Myeloblastic Leukemia With Maturation|Acute Myeloid Leukemia With Abnormal Bone Marrow Eosinophils Inv(16)(P13Q22) Or T(16;16)(P13;Q22)|Systemic Mastocytosis With Associated Hematologic Neoplasm|Acute Myeloid Leukemia With T(8;21)(Q22;Q22) Translocation	no	no	no	no	NA
KITLG	HGNC:6343	MGI:96974	OMIM:616697|OMIM:145250|OMIM:619947|OMIM:611664|ORPHA:895|ORPHA:363494|ORPHA:280628|ORPHA:79146|ORPHA:90635	Deafness, Autosomal Dominant 69|Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive|Waardenburg Syndrome, Type 2F|Skin/Hair/Eye Pigmentation, Variation In, 7|Waardenburg Syndrome Type 2|Non-Seminomatous Germ Cell Tumor Of Testis|Familial Progressive Hyper- And Hypopigmentation|Familial Progressive Hyperpigmentation|Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	no	no	no	no	NA
KIZ	HGNC:15865	MGI:2684960	OMIM:615780|ORPHA:791	Retinitis Pigmentosa 69|Retinitis Pigmentosa	no	no	no	no	NA
KL	HGNC:6344	MGI:1101771	OMIM:617994|ORPHA:306661	Tumoral Calcinosis, Hyperphosphatemic, Familial, 3|Familial Hyperphosphatemic Tumoral Calcinosis/Hyperphosphatemic Hyperostosis Syndrome	no	no	no	no	NA
KLB	HGNC:15527	MGI:1932466	-	-	yes	no	no	no	NA
KLC1	HGNC:6387	MGI:107978	-	-	no	no	no	no	NA
KLC2	HGNC:20716	MGI:107953	OMIM:609541|ORPHA:320406	Spastic Paraplegia, Optic Atrophy, And Neuropathy|Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	yes	yes	yes	yes	39.27
KLC3	HGNC:20717	MGI:1277971	-	-	yes	no	no	no	NA
KLC4	HGNC:21624	MGI:1922014	-	-	no	no	no	no	NA
KLF1	HGNC:6345	MGI:1342771	OMIM:111150|OMIM:613673|OMIM:613566|ORPHA:251380|ORPHA:293825|ORPHA:46532	Blood Group--Lutheran Inhibitor|Anemia, Congenital Dyserythropoietic, Type Iv|Fetal Hemoglobin Quantitative Trait Locus 6|Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome|Congenital Dyserythropoietic Anemia Type Iv|Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	no	no	no	no	NA
KLF10	HGNC:11810	MGI:1101353	-	-	no	no	no	no	NA
KLF11	HGNC:11811	MGI:2653368	OMIM:610508|ORPHA:552	Maturity-Onset Diabetes Of The Young, Type 7|Mody	no	no	no	no	NA
KLF12	HGNC:6346	MGI:1333796	-	-	yes	no	no	no	NA
KLF13	HGNC:13672	MGI:1354948	-	-	no	no	no	no	NA
KLF14	HGNC:23025	MGI:3577024	-	-	yes	no	no	no	NA
KLF15	HGNC:14536	MGI:1929988	-	-	no	no	no	no	NA
KLF16	HGNC:16857	MGI:2153049	-	-	yes	no	no	no	NA
KLF17	HGNC:18830	MGI:2181068	-	-	yes	no	no	no	NA
KLF2	HGNC:6347	MGI:1342772	-	-	no	no	no	no	NA
KLF3	HGNC:16516	MGI:1342773	-	-	no	no	no	no	NA
KLF4	HGNC:6348	MGI:1342287	-	-	yes	no	no	no	NA
KLF5	HGNC:6349	MGI:1338056	-	-	no	no	no	no	NA
KLF6	HGNC:2235	MGI:1346318	OMIM:613659|OMIM:176807	Gastric Cancer|Prostate Cancer	no	no	no	no	NA
KLF7	HGNC:6350	MGI:1935151	-	-	yes	no	no	no	NA
KLF8	HGNC:6351	MGI:2442430	-	-	yes	no	no	no	NA
KLF9	HGNC:1123	MGI:1333856	-	-	yes	no	no	no	NA
KLHDC1	HGNC:19836	MGI:2672853	-	-	yes	no	no	no	NA
KLHDC10	HGNC:22194	MGI:1924038	-	-	yes	no	no	no	NA
KLHDC2	HGNC:20231	MGI:1916804	-	-	yes	no	no	no	NA
KLHDC3	HGNC:20704	MGI:2651568	-	-	no	no	no	no	NA
KLHDC4	HGNC:25272	MGI:2384569	-	-	no	no	no	no	NA
KLHDC7A	HGNC:26791	MGI:2444612	-	-	yes	no	no	no	NA
KLHDC7B	HGNC:25145	MGI:3648212	-	-	yes	no	no	no	NA
KLHDC8A	HGNC:25573	MGI:2442630	-	-	no	no	no	no	NA
KLHDC8B	HGNC:28557	MGI:1925517	OMIM:236000|ORPHA:98843	Lymphoma, Hodgkin, Classic|Classic Hodgkin Lymphoma, Nodular Sclerosis Type	yes	yes	yes	no	NA
KLHDC9	HGNC:28489	MGI:1916124	-	-	no	no	no	no	NA
KLHL1	HGNC:6352	MGI:2136335	-	-	yes	no	no	no	NA
KLHL10	HGNC:18829	MGI:2181067	OMIM:615081|ORPHA:399805	Spermatogenic Failure 11|Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	yes	yes	yes	yes	67.955
KLHL11	HGNC:19008	MGI:2388648	-	-	no	no	no	no	NA
KLHL12	HGNC:19360	MGI:2385619	-	-	yes	no	no	no	NA
KLHL13	HGNC:22931	MGI:1914705	-	-	yes	no	no	no	NA
KLHL14	HGNC:29266	MGI:1921249	-	-	no	no	no	no	NA
KLHL15	HGNC:29347	MGI:1923400	OMIM:300982	Intellectual Developmental Disorder, X-Linked 103	no	no	no	no	NA
KLHL17	HGNC:24023	MGI:2678948	-	-	no	no	no	no	NA
KLHL18	HGNC:29120	MGI:2143315	-	-	yes	no	no	no	NA
KLHL2	HGNC:6353	MGI:1924363	-	-	yes	no	no	no	NA
KLHL20	HGNC:25056	MGI:2444855	-	-	no	no	no	no	NA
KLHL21	HGNC:29041	MGI:1919288	-	-	yes	no	no	no	NA
KLHL22	HGNC:25888	MGI:1337995	-	-	yes	no	no	no	NA
KLHL23	HGNC:27506	MGI:2683536	-	-	no	no	no	no	NA
KLHL24	HGNC:25947	MGI:1923035	OMIM:620236|OMIM:617294|ORPHA:508529	Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies|Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy|Intermediate Epidermolysis Bullosa Simplex With Cardiomyopathy	yes	no	yes	no	NA
KLHL25	HGNC:25732	MGI:2668031	-	-	no	no	no	no	NA
KLHL26	HGNC:25623	MGI:2443079	-	-	yes	no	no	no	NA
KLHL28	HGNC:19741	MGI:1913939	-	-	no	no	no	no	NA
KLHL29	HGNC:29404	MGI:2683857	-	-	yes	no	no	no	NA
KLHL3	HGNC:6354	MGI:2445185	OMIM:614495|ORPHA:300525	Pseudohypoaldosteronism, Type Iid|Pseudohypoaldosteronism Type 2D	yes	yes	yes	yes	56.6
KLHL30	HGNC:24770	MGI:1918038	-	-	yes	no	no	no	NA
KLHL31	HGNC:21353	MGI:3045305	-	-	no	no	no	no	NA
KLHL32	HGNC:21221	MGI:3612790	-	-	yes	no	no	no	NA
KLHL33	HGNC:31952	MGI:3644593	-	-	yes	no	no	no	NA
KLHL34	HGNC:26634	MGI:2685234	-	-	yes	no	no	no	NA
KLHL35	HGNC:26597	MGI:1919434	-	-	no	no	no	no	NA
KLHL36	HGNC:17844	MGI:2385305	-	-	no	no	no	no	NA
KLHL38	HGNC:34435	MGI:3045310	-	-	no	no	no	no	NA
KLHL4	HGNC:6355	MGI:2442829	-	-	yes	no	no	no	NA
KLHL40	HGNC:30372	MGI:1919580	OMIM:615348|ORPHA:171430	Nemaline Myopathy 8|Severe Congenital Nemaline Myopathy	yes	yes	yes	no	NA
KLHL41	HGNC:16905	MGI:2683854	OMIM:615731|ORPHA:171430|ORPHA:171433|ORPHA:171436|ORPHA:171439	Nemaline Myopathy 9|Severe Congenital Nemaline Myopathy|Intermediate Nemaline Myopathy|Typical Nemaline Myopathy|Childhood-Onset Nemaline Myopathy	no	no	no	no	NA
KLHL42	HGNC:29252	MGI:2444786	-	-	yes	no	no	no	NA
KLHL5	HGNC:6356	MGI:1919028	-	-	yes	no	no	no	NA
KLHL6	HGNC:18653	MGI:2686922	-	-	no	no	no	no	NA
KLHL7	HGNC:15646	MGI:1196453	OMIM:617055|OMIM:612943|ORPHA:791|ORPHA:157820|ORPHA:603689|ORPHA:603684|ORPHA:603694	Perching Syndrome|Retinitis Pigmentosa 42|Retinitis Pigmentosa|Cold-Induced Sweating Syndrome|Klhl7-Related Bohring-Opitz-Like Syndrome|Klhl7-Related Bohring-Opitz-Like And Crisponi/Cold-Induced Sweating-Like Overlap Syndrome|Klhl7-Related Crisponi/Cold-Induced Sweating-Like Syndrome	no	no	no	no	NA
KLHL8	HGNC:18644	MGI:2179430	-	-	yes	no	no	no	NA
KLHL9	HGNC:18732	MGI:2180122	ORPHA:399081	Klhl9-Related Early-Onset Distal Myopathy	yes	yes	yes	yes	21.075
KLK10	HGNC:6358	MGI:1916790	-	-	no	no	no	no	NA
KLK11	HGNC:6359	MGI:1929977	OMIM:620507	Ichthyosis With Erythrokeratoderma	yes	yes	yes	no	NA
KLK12	HGNC:6360	MGI:1916761	-	-	yes	no	no	no	NA
KLK13	HGNC:6361	MGI:3615275	-	-	yes	no	no	no	NA
KLK14	HGNC:6362	MGI:2447564	-	-	yes	no	no	no	NA
KLK15	HGNC:20453	MGI:2447533	-	-	yes	no	no	no	NA
KLK4	HGNC:6365	MGI:1861379	OMIM:204700|ORPHA:100033	Amelogenesis Imperfecta, Hypomaturation Type, Iia1|Hypomaturation Amelogenesis Imperfecta	yes	yes	yes	no	NA
KLK5	HGNC:6366	MGI:1915918	-	-	yes	no	no	no	NA
KLK6	HGNC:6367	MGI:1343166	-	-	yes	no	no	no	NA
KLK7	HGNC:6368	MGI:1346336	-	-	no	no	no	no	NA
KLK8	HGNC:6369	MGI:1343327	-	-	yes	no	no	no	NA
KLK9	HGNC:6370	MGI:1921082	-	-	yes	no	no	no	NA
KLKB1	HGNC:6371	MGI:102849	OMIM:612423|ORPHA:749	Prekallikrein Deficiency|Congenital Prekallikrein Deficiency	yes	yes	yes	no	NA
KLRD1	HGNC:6378	MGI:1196275	-	-	no	no	no	no	NA
KLRG1	HGNC:6380	MGI:1355294	-	-	no	no	no	no	NA
KLRG2	HGNC:24778	MGI:1921503	-	-	yes	no	no	no	NA
KLRK1	HGNC:18788	MGI:1196250	-	-	yes	no	no	no	NA
KMO	HGNC:6381	MGI:2138151	-	-	yes	no	no	no	NA
KMT2A	HGNC:7132	MGI:96995	OMIM:605130|ORPHA:319182|ORPHA:402017|ORPHA:98835|ORPHA:98831|ORPHA:589595|ORPHA:589534|ORPHA:585918	Wiedemann-Steiner Syndrome|Acute Myeloid Leukemia With T(9;11)(P22;Q23)|Acute Undifferentiated Leukemia|Acute Myeloid Leukemia With 11Q23 Abnormalities|Mixed Phenotype Acute Leukemia With T(V;11Q23.3)|Mixed Phenotype Acute Leukemia With T(9;22)(Q34.1;Q11.2)|B-Lymphoblastic Leukemia/Lymphoma With T(V;11Q23.3)	yes	yes	yes	yes	20.24
KMT2B	HGNC:15840	MGI:109565	OMIM:617284|OMIM:619934|ORPHA:528084|ORPHA:589618	Dystonia 28, Childhood-Onset|Intellectual Developmental Disorder, Autosomal Dominant 68|Non-Specific Syndromic Intellectual Disability|Dystonia 28	yes	yes	yes	yes	26.48
KMT2C	HGNC:13726	MGI:2444959	OMIM:617768|ORPHA:261652	Kleefstra Syndrome 2|Kleefstra Syndrome Due To A Point Mutation	yes	yes	yes	no	NA
KMT2D	HGNC:7133	MGI:2682319	OMIM:620186|OMIM:147920|ORPHA:2322|ORPHA:589856	Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome|Kabuki Syndrome 1|Kabuki Syndrome|Choanal Atresia-Athelia-Hypothyroidism-Delayed Puberty-Short Stature Syndrome	yes	yes	yes	yes	25.8
KMT2E	HGNC:18541	MGI:1924825	OMIM:618512|ORPHA:528084	O'Donnell-Luria-Rodan Syndrome|Non-Specific Syndromic Intellectual Disability	yes	yes	yes	no	NA
KMT5A	HGNC:29489	MGI:1915206	-	-	no	no	no	no	NA
KMT5B	HGNC:24283	MGI:2444557	OMIM:617788	Intellectual Developmental Disorder, Autosomal Dominant 51	yes	yes	yes	yes	31.92
KMT5C	HGNC:28405	MGI:2385262	-	-	no	no	no	no	NA
KNCN	HGNC:26488	MGI:3614952	-	-	no	no	no	no	NA
KNDC1	HGNC:29374	MGI:1923734	-	-	no	no	no	no	NA
KNL1	HGNC:24054	MGI:1923714	OMIM:604321|ORPHA:2512	Microcephaly 4, Primary, Autosomal Recessive|Autosomal Recessive Primary Microcephaly	yes	yes	yes	no	NA
KNOP1	HGNC:34404	MGI:1913606	-	-	yes	no	no	no	NA
KNSTRN	HGNC:30767	MGI:1289298	OMIM:613328|ORPHA:221139	Roifman-Chitayat Syndrome|Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	yes	yes	yes	yes	37.505
KNTC1	HGNC:17255	MGI:2673709	-	-	yes	no	no	no	NA
KPLCE	HGNC:29468	MGI:1913783	-	-	no	no	no	no	NA
KPNA1	HGNC:6394	MGI:103560	-	-	no	no	no	no	NA
KPNA3	HGNC:6396	MGI:1100863	OMIM:620106|ORPHA:171612	Spastic Paraplegia 88, Autosomal Dominant|Autosomal Dominant Spastic Paraplegia Type 37	no	no	no	no	NA
KPNA4	HGNC:6397	MGI:1100848	-	-	yes	no	no	no	NA
KPNA6	HGNC:6399	MGI:1100836	-	-	no	no	no	no	NA
KPNA7	HGNC:21839	MGI:2141165	OMIM:620319|ORPHA:401959	Oocyte/Zygote/Embryo Maturation Arrest 17|Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia With Posterior Fossa Cysts Syndrome	no	no	no	no	NA
KPNB1	HGNC:6400	MGI:107532	-	-	no	no	no	no	NA
KPRP	HGNC:31823	MGI:1920981	-	-	no	no	no	no	NA
KPTN	HGNC:6404	MGI:1890380	OMIM:615637|ORPHA:397612	Intellectual Developmental Disorder, Autosomal Recessive 41|Macrocephaly-Developmental Delay Syndrome	yes	yes	yes	yes	13.81
KRAS	HGNC:6407	MGI:96680	OMIM:601626|OMIM:614470|OMIM:211980|OMIM:108010|OMIM:109800|OMIM:114480|OMIM:615278|OMIM:613659|OMIM:609942|OMIM:600268|OMIM:260350|OMIM:163200|ORPHA:648|ORPHA:2612|ORPHA:146|ORPHA:1340|ORPHA:2396|ORPHA:251615|ORPHA:268114|ORPHA:3339|ORPHA:144|ORPHA:1333|ORPHA:86834	Leukemia, Acute Myeloid|Ras-Associated Autoimmune Leukoproliferative Disorder|Lung Cancer|Arteriovenous Malformations Of The Brain|Bladder Cancer|Breast Cancer|Cardiofaciocutaneous Syndrome 2|Gastric Cancer|Noonan Syndrome 3|Oculoectodermal Syndrome|Pancreatic Cancer|Schimmelpenning-Feuerstein-Mims Syndrome|Noonan Syndrome|Linear Nevus Sebaceus Syndrome|Differentiated Thyroid Carcinoma|Cardiofaciocutaneous Syndrome|Encephalocraniocutaneous Lipomatosis|Pilomyxoid Astrocytoma|Ras-Associated Autoimmune Leukoproliferative Disease|Toriello-Lacassie-Droste Syndrome|Lynch Syndrome|Familial Pancreatic Carcinoma|Juvenile Myelomonocytic Leukemia	no	no	no	no	NA
KRBA1	HGNC:22228	MGI:1925077	-	-	no	no	no	no	NA
KRCC1	HGNC:28039	MGI:1889377	-	-	no	no	no	no	NA
KREMEN1	HGNC:17550	MGI:1933988	OMIM:617392	Ectodermal Dysplasia 13, Hair/Tooth Type	no	no	no	no	NA
KREMEN2	HGNC:18797	MGI:1920266	-	-	no	no	no	no	NA
KRI1	HGNC:25769	MGI:2384899	-	-	yes	no	no	no	NA
KRIT1	HGNC:1573	MGI:1930618	OMIM:116860|ORPHA:221061	Cerebral Cavernous Malformations|Familial Cerebral Cavernous Malformation	yes	yes	yes	yes	23.11
KRR1	HGNC:5176	MGI:1289274	-	-	no	no	no	no	NA
KRT1	HGNC:6412	MGI:96698	OMIM:113800|OMIM:146590|OMIM:620148|OMIM:607654|OMIM:620411|OMIM:600962|ORPHA:312|ORPHA:2199|ORPHA:281190|ORPHA:281139|ORPHA:530838|ORPHA:538574|ORPHA:50942|ORPHA:79503	Epidermolytic Hyperkeratosis 1|Ichthyosis Hystrix, Curth-Macklin Type|Ichthyosis, Annular Epidermolytic, 2|Keratosis Palmoplantaris Striata Iii|Palmoplantar Keratoderma, Epidermolytic, 2|Palmoplantar Keratoderma, Nonepidermolytic|Autosomal Dominant Epidermolytic Ichthyosis|Epidermolytic Palmoplantar Keratoderma|Congenital Reticular Ichthyosiform Erythroderma|Annular Epidermolytic Ichthyosis|Krt1-Related Diffuse Nonepidermolytic Keratoderma|Palmoplantar Keratoderma-Hereditary Motor And Sensory Neuropathy Syndrome|Striate Palmoplantar Keratoderma|Ichthyosis Hystrix Of Curth-Macklin	no	no	no	no	NA
KRT10	HGNC:6413	MGI:96685	OMIM:146600|OMIM:620150|OMIM:609165|OMIM:607602|ORPHA:312|ORPHA:281190|ORPHA:281139|ORPHA:512103	Ichthyosis Hystrix, Lambert Type|Epidermolytic Hyperkeratosis 2|Ichthyosis With Confetti|Ichthyosis, Annular Epidermolytic, 1|Autosomal Dominant Epidermolytic Ichthyosis|Congenital Reticular Ichthyosiform Erythroderma|Annular Epidermolytic Ichthyosis|Autosomal Recessive Epidermolytic Ichthyosis	no	no	no	no	NA
KRT12	HGNC:6414	MGI:96687	OMIM:122100|ORPHA:98954	Corneal Dystrophy, Meesmann, 1|Meesmann Corneal Dystrophy	no	no	no	no	NA
KRT13	HGNC:6415	MGI:101925	OMIM:615785|ORPHA:171723	White Sponge Nevus 2|White Sponge Nevus	no	no	no	no	NA
KRT14	HGNC:6416	MGI:96688	OMIM:125595|OMIM:131760|OMIM:131900|OMIM:131800|OMIM:601001|OMIM:161000|ORPHA:69087|ORPHA:86920|ORPHA:89838|ORPHA:79396|ORPHA:79397|ORPHA:79399|ORPHA:79400	Dermatopathia Pigmentosa Reticularis|Epidermolysis Bullosa Simplex 1A, Generalized Severe|Epidermolysis Bullosa Simplex 1B, Generalized Intermediate|Epidermolysis Bullosa Simplex 1C, Localized|Epidermolysis Bullosa Simplex 1D, Generalized, Intermediate Or Severe, Autosomal Recessive|Naegeli-Franceschetti-Jadassohn Syndrome|Autosomal Recessive Generalized Epidermolysis Bullosa Simplex|Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form|Epidermolysis Bullosa Simplex With Mottled Pigmentation|Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form|Localized Epidermolysis Bullosa Simplex	yes	yes	yes	yes	30.69
KRT15	HGNC:6421	MGI:96689	-	-	no	no	no	no	NA
KRT16	HGNC:6423	MGI:96690	OMIM:167200|OMIM:613000|ORPHA:2199|ORPHA:2309|ORPHA:448264	Pachyonychia Congenita 1|Palmoplantar Keratoderma, Nonepidermolytic, Focal 1|Epidermolytic Palmoplantar Keratoderma|Pachyonychia Congenita|Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma	no	no	no	no	NA
KRT17	HGNC:6427	MGI:96691	OMIM:167210|OMIM:184500|ORPHA:2309|ORPHA:841	Pachyonychia Congenita 2|Steatocystoma Multiplex|Pachyonychia Congenita|Sebocystomatosis	yes	yes	yes	no	NA
KRT18	HGNC:6430	MGI:96692	OMIM:215600	Cirrhosis, Familial	no	no	no	no	NA
KRT19	HGNC:6436	MGI:96693	-	-	no	no	no	no	NA
KRT2	HGNC:6439	MGI:96699	OMIM:146800|ORPHA:455	Ichthyosis Bullosa Of Siemens|Superficial Epidermolytic Ichthyosis	yes	yes	yes	no	NA
KRT20	HGNC:20412	MGI:1914059	-	-	no	no	no	no	NA
KRT222	HGNC:28695	MGI:2442728	-	-	no	no	no	no	NA
KRT23	HGNC:6438	MGI:2148866	-	-	yes	no	no	no	NA
KRT24	HGNC:18527	MGI:1922956	-	-	yes	no	no	no	NA
KRT25	HGNC:30839	MGI:1918060	OMIM:616760|ORPHA:170	Woolly Hair, Autosomal Recessive 3|Woolly Hair	yes	yes	yes	no	NA
KRT26	HGNC:30840	MGI:2444913	-	-	yes	no	no	no	NA
KRT27	HGNC:30841	MGI:1339999	-	-	yes	no	no	no	NA
KRT28	HGNC:30842	MGI:1918093	-	-	yes	no	no	no	NA
KRT32	HGNC:6449	MGI:1309995	-	-	yes	no	no	no	NA
KRT35	HGNC:6453	MGI:1858899	-	-	yes	no	no	no	NA
KRT36	HGNC:6454	MGI:109364	-	-	no	no	no	no	NA
KRT39	HGNC:32971	MGI:3588208	-	-	no	no	no	no	NA
KRT4	HGNC:6441	MGI:96701	OMIM:193900|ORPHA:171723	White Sponge Nevus 1|White Sponge Nevus	no	no	no	no	NA
KRT40	HGNC:26707	MGI:3629968	-	-	yes	no	no	no	NA
KRT5	HGNC:6442	MGI:96702	OMIM:179850|OMIM:619555|OMIM:619588|OMIM:619594|OMIM:619599|OMIM:609352|OMIM:131960|ORPHA:158681|ORPHA:79145|ORPHA:79396|ORPHA:79397|ORPHA:79399|ORPHA:79400	Dowling-Degos Disease 1|Epidermolysis Bullosa Simplex 2A, Generalized Severe|Epidermolysis Bullosa Simplex 2B, Generalized Intermediate|Epidermolysis Bullosa Simplex 2C, Localized|Epidermolysis Bullosa Simplex 2D, Generalized, Intermediate Or Severe, Autosomal Recessive|Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema|Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation|Epidermolysis Bullosa Simplex With Circinate Migratory Erythema|Dowling-Degos Disease|Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form|Epidermolysis Bullosa Simplex With Mottled Pigmentation|Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form|Localized Epidermolysis Bullosa Simplex	yes	yes	yes	no	NA
KRT7	HGNC:6445	MGI:96704	-	-	yes	no	no	no	NA
KRT71	HGNC:28927	MGI:1861586	OMIM:615896|ORPHA:170	Hypotrichosis 13|Woolly Hair	no	no	no	no	NA
KRT72	HGNC:28932	MGI:2146034	-	-	yes	no	no	no	NA
KRT73	HGNC:28928	MGI:3607712	-	-	no	no	no	no	NA
KRT75	HGNC:24431	MGI:1923500	OMIM:612318	Pseudofolliculitis Barbae	yes	yes	no	no	NA
KRT76	HGNC:24430	MGI:1924305	-	-	yes	no	no	no	NA
KRT77	HGNC:20411	MGI:3588209	-	-	yes	no	no	no	NA
KRT78	HGNC:28926	MGI:1917529	-	-	no	no	no	no	NA
KRT79	HGNC:28930	MGI:2385030	-	-	yes	no	no	no	NA
KRT8	HGNC:6446	MGI:96705	-	-	yes	no	no	no	NA
KRT80	HGNC:27056	MGI:1921377	-	-	yes	no	no	no	NA
KRT82	HGNC:6459	MGI:2149248	-	-	no	no	no	no	NA
KRT84	HGNC:6461	MGI:96700	-	-	no	no	no	no	NA
KRT9	HGNC:6447	MGI:96696	OMIM:144200|ORPHA:2199	Palmoplantar Keratoderma, Epidermolytic, 1|Epidermolytic Palmoplantar Keratoderma	yes	yes	yes	no	NA
KRTAP1-1	HGNC:16772	MGI:3650443	-	-	no	no	no	no	NA
KRTAP1-5	HGNC:16777	MGI:3651229	-	-	no	no	no	no	NA
KRTAP11-1	HGNC:18922	MGI:99447	-	-	no	no	no	no	NA
KRTAP15-1	HGNC:18927	MGI:1347350	-	-	no	no	no	no	NA
KRTAP16-1	HGNC:18916	MGI:3650326	-	-	no	no	no	no	NA
KRTAP24-1	HGNC:33902	MGI:2685158	-	-	no	no	no	no	NA
KRTAP26-1	HGNC:33760	MGI:1916783	-	-	no	no	no	no	NA
KRTAP27-1	HGNC:33864	MGI:3646229	-	-	no	no	no	no	NA
KRTAP29-1	HGNC:34211	MGI:3652056	-	-	yes	no	no	no	NA
KRTAP3-1	HGNC:16778	MGI:1916723	-	-	no	no	no	no	NA
KRTAP4-1	HGNC:18907	MGI:3651030	-	-	no	no	no	no	NA
KRTAP7-1	HGNC:18934	MGI:1918613	-	-	yes	no	no	no	NA
KRTAP8-1	HGNC:18935	MGI:1330293	-	-	yes	no	no	no	NA
KRTAP9-1	HGNC:18912	MGI:3650333	-	-	yes	no	no	no	NA
KRTCAP2	HGNC:28942	MGI:1913309	-	-	yes	no	no	no	NA
KRTCAP3	HGNC:28943	MGI:1917065	-	-	no	no	no	no	NA
KRTDAP	HGNC:16313	MGI:1928282	-	-	no	no	no	no	NA
KSR1	HGNC:6465	MGI:105051	-	-	no	no	no	no	NA
KSR2	HGNC:18610	MGI:3610315	ORPHA:521399	Non Rare In Europe: Non Rare Obesity	no	no	no	no	NA
KTI12	HGNC:25160	MGI:1923547	-	-	yes	no	no	no	NA
KTN1	HGNC:6467	MGI:109153	-	-	no	no	no	no	NA
KXD1	HGNC:28420	MGI:1922870	-	-	no	no	no	no	NA
KY	HGNC:26576	MGI:96709	OMIM:617114|ORPHA:496686|ORPHA:496689	Myopathy, Myofibrillar, 7|Kyphosis-Lateral Tongue Atrophy-Myofibrillar Myopathy Syndrome|Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	yes	yes	yes	yes	45.54
KYAT1	HGNC:1564	MGI:1917516	-	-	yes	no	no	no	NA
KYAT3	HGNC:33238	MGI:2677849	-	-	no	no	no	no	NA
KYNU	HGNC:6469	MGI:1918039	OMIM:236800|OMIM:617661|ORPHA:79155|ORPHA:521438	Hydroxykynureninuria|Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2|Congenital Vertebral-Cardiac-Renal Anomalies Syndrome	yes	yes	yes	yes	30.805
L1CAM	HGNC:6470	MGI:96721	OMIM:304100|OMIM:307000|OMIM:303350|ORPHA:2182|ORPHA:2466|ORPHA:1497|ORPHA:306617	Corpus Callosum, Partial Agenesis Of, X-Linked|Hydrocephalus, Congenital, X-Linked|Masa Syndrome|Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius|X-Linked Complicated Corpus Callosum Dysgenesis|X-Linked Complicated Spastic Paraplegia Type 1	no	no	no	no	NA
L1TD1	HGNC:25595	MGI:3578435	-	-	no	no	no	no	NA
L2HGDH	HGNC:20499	MGI:2384968	OMIM:236792|ORPHA:79314	L-2-Hydroxyglutaric Aciduria	yes	yes	yes	no	NA
L3HYPDH	HGNC:20488	MGI:1914467	-	-	no	no	no	no	NA
L3MBTL1	HGNC:15905	MGI:2676663	-	-	no	no	no	no	NA
L3MBTL2	HGNC:18594	MGI:2443584	-	-	yes	no	no	no	NA
L3MBTL3	HGNC:23035	MGI:2143628	-	-	yes	no	no	no	NA
L3MBTL4	HGNC:26677	MGI:2444889	-	-	yes	no	no	no	NA
LACC1	HGNC:26789	MGI:2445077	OMIM:618795|ORPHA:85414	Juvenile Arthritis|Systemic-Onset Juvenile Idiopathic Arthritis	yes	no	yes	no	NA
LACTB	HGNC:16468	MGI:1933395	-	-	yes	no	no	no	NA
LACTB2	HGNC:18512	MGI:2442551	-	-	no	no	no	no	NA
LACTBL1	HGNC:35445	MGI:2448566	-	-	no	no	no	no	NA
LAD1	HGNC:6472	MGI:109343	-	-	no	no	no	no	NA
LAG3	HGNC:6476	MGI:106588	-	-	no	no	no	no	NA
LAGE3	HGNC:26058	MGI:1913442	OMIM:301006|ORPHA:2065	Galloway-Mowat Syndrome 2, X-Linked|Galloway-Mowat Syndrome	yes	yes	yes	yes	19.96
LAIR1	HGNC:6477	MGI:105492	-	-	no	no	no	no	NA
LALBA	HGNC:6480	MGI:96742	-	-	no	no	no	no	NA
LAMA1	HGNC:6481	MGI:99892	OMIM:615960|ORPHA:370022	Poretti-Boltshauser Syndrome|Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	yes	yes	yes	yes	49.585
LAMA2	HGNC:6482	MGI:99912	OMIM:607855|OMIM:618138|ORPHA:258	Muscular Dystrophy, Congenital Merosin-Deficient, 1A|Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23|Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	no	no	no	no	NA
LAMA3	HGNC:6483	MGI:99909	OMIM:619783|OMIM:619784|OMIM:245660|ORPHA:2407|ORPHA:79402|ORPHA:79404	Epidermolysis Bullosa, Junctional 2A, Intermediate|Epidermolysis Bullosa, Junctional 2B, Severe|Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous|Laryngo-Onycho-Cutaneous Syndrome|Intermediate Generalized Junctional Epidermolysis Bullosa|Severe Generalized Junctional Epidermolysis Bullosa	no	no	no	no	NA
LAMA4	HGNC:6484	MGI:109321	OMIM:615235|ORPHA:154	Cardiomyopathy, Dilated, 1Jj|Familial Isolated Dilated Cardiomyopathy	yes	yes	yes	yes	50.955
LAMA5	HGNC:6485	MGI:105382	OMIM:620076|OMIM:620049|ORPHA:521450	Bent Bone Dysplasia Syndrome 2|Nephrotic Syndrome, Type 26|Lama5-Related Multisystemic Syndrome	yes	yes	yes	yes	18.935
LAMB1	HGNC:6486	MGI:96743	OMIM:615191|ORPHA:352682	Lissencephaly 5|Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	yes	yes	yes	yes	27.595
LAMB2	HGNC:6487	MGI:99916	OMIM:614199|OMIM:609049|ORPHA:2670|ORPHA:98915	Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities|Pierson Syndrome|Synaptic Congenital Myasthenic Syndromes	no	no	no	no	NA
LAMB3	HGNC:6490	MGI:99915	OMIM:104530|OMIM:226650|OMIM:226700|ORPHA:79402|ORPHA:79404|ORPHA:100031	Amelogenesis Imperfecta, Type Ia|Epidermolysis Bullosa, Junctional 1A, Intermediate|Epidermolysis Bullosa, Junctional 1B, Severe|Intermediate Generalized Junctional Epidermolysis Bullosa|Severe Generalized Junctional Epidermolysis Bullosa|Hypoplastic Amelogenesis Imperfecta	yes	yes	yes	yes	70.08
LAMC1	HGNC:6492	MGI:99914	-	-	no	no	no	no	NA
LAMC2	HGNC:6493	MGI:99913	OMIM:619785|OMIM:619786|ORPHA:79402|ORPHA:79404	Epidermolysis Bullosa, Junctional 3A, Intermediate|Epidermolysis Bullosa, Junctional 3B, Severe|Intermediate Generalized Junctional Epidermolysis Bullosa|Severe Generalized Junctional Epidermolysis Bullosa	no	no	no	no	NA
LAMC3	HGNC:6494	MGI:1344394	OMIM:614115|ORPHA:280640	Cortical Malformations, Occipital|Occipital Pachygyria And Polymicrogyria	yes	yes	yes	no	NA
LAMP1	HGNC:6499	MGI:96745	-	-	yes	no	no	no	NA
LAMP2	HGNC:6501	MGI:96748	OMIM:300257|ORPHA:34587	Danon Disease|Glycogen Storage Disease Due To Lamp-2 Deficiency	no	no	no	no	NA
LAMP3	HGNC:14582	MGI:2441659	-	-	yes	no	no	no	NA
LAMP5	HGNC:16097	MGI:1923411	-	-	yes	no	no	no	NA
LAMTOR1	HGNC:26068	MGI:1913758	-	-	yes	no	no	no	NA
LAMTOR2	HGNC:29796	MGI:1932697	OMIM:610798|ORPHA:90023	Immunodeficiency Due To Defect In Mapbp-Interacting Protein|Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	no	no	no	no	NA
LAMTOR3	HGNC:15606	MGI:1929467	-	-	yes	no	no	no	NA
LAMTOR4	HGNC:33772	MGI:1913346	-	-	yes	no	no	no	NA
LAMTOR5	HGNC:17955	MGI:1915826	-	-	yes	no	no	no	NA
LANCL1	HGNC:6508	MGI:1336997	-	-	yes	no	no	no	NA
LANCL2	HGNC:6509	MGI:1919085	-	-	yes	no	no	no	NA
LANCL3	HGNC:24767	MGI:2443335	-	-	yes	no	no	no	NA
LAP3	HGNC:18449	MGI:1914238	-	-	no	no	no	no	NA
LAPTM4A	HGNC:6924	MGI:108017	-	-	yes	no	no	no	NA
LAPTM4B	HGNC:13646	MGI:1890494	-	-	yes	no	no	no	NA
LAPTM5	HGNC:29612	MGI:108046	-	-	yes	no	no	no	NA
LARGE1	HGNC:6511	MGI:1342270	OMIM:613154|OMIM:608840|ORPHA:370968|ORPHA:588|ORPHA:899	Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6|Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6|Congenital Muscular Dystrophy With Intellectual Disability|Muscle-Eye-Brain Disease|Walker-Warburg Syndrome	no	no	no	no	NA
LARGE2	HGNC:16522	MGI:2443769	-	-	yes	no	no	no	NA
LARP1	HGNC:29531	MGI:1890165	-	-	yes	no	no	no	NA
LARP1B	HGNC:24704	MGI:1914604	-	-	yes	no	no	no	NA
LARP4	HGNC:24320	MGI:2443114	-	-	no	no	no	no	NA
LARP4B	HGNC:28987	MGI:106330	-	-	yes	no	no	no	NA
LARP6	HGNC:24012	MGI:1914807	-	-	yes	no	no	no	NA
LARP7	HGNC:24912	MGI:107634	OMIM:615071|ORPHA:319671	Alazami Syndrome	yes	no	yes	no	NA
LARS1	HGNC:6512	MGI:1913808	OMIM:615438|ORPHA:370088	Infantile Liver Failure Syndrome 1|Acute Infantile Liver Failure-Multisystemic Involvement Syndrome	yes	yes	yes	no	NA
LARS2	HGNC:17095	MGI:2142973	OMIM:617021|OMIM:615300|ORPHA:528091|ORPHA:642976|ORPHA:642945	Hydrops, Lactic Acidosis, And Sideroblastic Anemia|Perrault Syndrome 4|Hydrops-Lactic Acidosis-Sideroblastic Anemia-Multisystemic Failure Syndrome|Perrault Syndrome Type 2|Perrault Syndrome Type 1	no	no	no	no	NA
LAS1L	HGNC:25726	MGI:1923380	OMIM:309585|ORPHA:3459|ORPHA:404521	Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type|Wilson-Turner Syndrome|Spinal Muscular Atrophy With Respiratory Distress Type 2	no	no	no	no	NA
LASP1	HGNC:6513	MGI:109656	-	-	no	no	no	no	NA
LAT	HGNC:18874	MGI:1342293	OMIM:617514|ORPHA:504523	Immunodeficiency 52|Severe Combined Immunodeficiency Due To Lat Deficiency	yes	yes	yes	no	NA
LAT2	HGNC:12749	MGI:1926479	-	-	no	no	no	no	NA
LATS1	HGNC:6514	MGI:1333883	-	-	yes	no	no	no	NA
LATS2	HGNC:6515	MGI:1354386	-	-	no	no	no	no	NA
LAX1	HGNC:26005	MGI:2443362	-	-	no	no	no	no	NA
LAYN	HGNC:29471	MGI:2685357	-	-	no	no	no	no	NA
LBH	HGNC:29532	MGI:1925139	-	-	no	no	no	no	NA
LBHD1	HGNC:28351	MGI:5516029	-	-	no	no	no	no	NA
LBHD2	HGNC:52384	MGI:2685744	-	-	no	no	no	no	NA
LBP	HGNC:6517	MGI:1098776	-	-	yes	no	no	no	NA
LBR	HGNC:6518	MGI:2138281	OMIM:613471|OMIM:215140|OMIM:169400|OMIM:618019|ORPHA:1426|ORPHA:448267|ORPHA:779	Reynolds Syndrome|Greenberg Dysplasia|Pelger-Huet Anomaly|Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly|Regressive Spondylometaphyseal Dysplasia	yes	yes	yes	yes	46.97
LBX1	HGNC:16960	MGI:104867	OMIM:619483|ORPHA:661	Central Hypoventilation Syndrome, Congenital, 3|Congenital Central Hypoventilation Syndrome	no	no	no	no	NA
LBX2	HGNC:15525	MGI:1342288	-	-	no	no	no	no	NA
LCA5	HGNC:31923	MGI:1923032	OMIM:604537|ORPHA:65|ORPHA:364055	Leber Congenital Amaurosis 5|Leber Congenital Amaurosis|Severe Early-Childhood-Onset Retinal Dystrophy	no	no	no	no	NA
LCA5L	HGNC:1255	MGI:3041157	-	-	yes	no	no	no	NA
LCAT	HGNC:6522	MGI:96755	OMIM:136120|OMIM:245900|ORPHA:79293|ORPHA:79292	Fish-Eye Disease|Lecithin:Cholesterol Acyltransferase Deficiency|Familial Lcat Deficiency	no	no	no	no	NA
LCE6A	HGNC:31824	MGI:1925632	-	-	no	no	no	no	NA
LCK	HGNC:6524	MGI:96756	OMIM:615758|ORPHA:280142	Immunodeficiency 22|Severe Combined Immunodeficiency Due To Lck Deficiency	no	no	no	no	NA
LCLAT1	HGNC:26756	MGI:2684937	-	-	yes	no	no	no	NA
LCMT1	HGNC:17557	MGI:1353593	-	-	yes	no	no	no	NA
LCMT2	HGNC:17558	MGI:1353659	-	-	no	no	no	no	NA
LCN10	HGNC:20892	MGI:1925000	-	-	yes	no	no	no	NA
LCN12	HGNC:28733	MGI:1924951	-	-	no	no	no	no	NA
LCN2	HGNC:6526	MGI:96757	-	-	yes	no	no	no	NA
LCN6	HGNC:17337	MGI:3045364	-	-	no	no	no	no	NA
LCN8	HGNC:27038	MGI:2135945	-	-	no	no	no	no	NA
LCN9	HGNC:17442	MGI:1924954	-	-	no	no	no	no	NA
LCOR	HGNC:29503	MGI:2443930	-	-	no	no	no	no	NA
LCORL	HGNC:30776	MGI:2651932	-	-	yes	no	no	no	NA
LCP1	HGNC:6528	MGI:104808	-	-	yes	no	no	no	NA
LCP2	HGNC:6529	MGI:1321402	OMIM:619374	Immunodeficiency 81	yes	yes	yes	no	NA
LCT	HGNC:6530	MGI:104576	OMIM:223000|ORPHA:319681|ORPHA:53690	Lactase Deficiency, Congenital|Non Rare In Europe: Lactase Non-Persistence In Adulthood|Congenital Lactase Deficiency	yes	yes	yes	no	NA
LCTL	HGNC:15583	MGI:2183549	-	-	no	no	no	no	NA
LDAF1	HGNC:30136	MGI:1925752	-	-	yes	no	no	no	NA
LDAH	HGNC:26145	MGI:1916082	-	-	yes	no	no	no	NA
LDB1	HGNC:6532	MGI:894762	-	-	no	no	no	no	NA
LDB2	HGNC:6533	MGI:894670	-	-	no	no	no	no	NA
LDB3	HGNC:15710	MGI:1344412	OMIM:601493|OMIM:609452|ORPHA:154|ORPHA:155|ORPHA:293910|ORPHA:293899|ORPHA:293888|ORPHA:54260|ORPHA:98912	Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction|Myopathy, Myofibrillar, 4|Familial Isolated Dilated Cardiomyopathy|Non Rare In Europe: Familial Isolated Hypertrophic Cardiomyopathy|Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form|Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form|Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form|Left Ventricular Noncompaction|Late-Onset Distal Myopathy, Markesbery-Griggs Type	yes	yes	yes	yes	63.11
LDHA	HGNC:6535	MGI:96759	OMIM:612933|ORPHA:284426	Glycogen Storage Disease Xi|Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	yes	yes	yes	no	NA
LDHAL6B	HGNC:21481	MGI:2146830	-	-	yes	no	no	no	NA
LDHB	HGNC:6541	MGI:96763	OMIM:614128|ORPHA:284435	Lactate Dehydrogenase B Deficiency|Glycogen Storage Disease Due To Lactate Dehydrogenase H-Subunit Deficiency	yes	yes	yes	no	NA
LDHC	HGNC:6544	MGI:96764	-	-	no	no	no	no	NA
LDHD	HGNC:19708	MGI:106428	OMIM:245450	D-Lactic Aciduria With Gout	no	no	no	no	NA
LDLR	HGNC:6547	MGI:96765	OMIM:143890|ORPHA:406|ORPHA:391665	Hypercholesterolemia, Familial, 1|Non Rare In Europe: Heterozygous Familial Hypercholesterolemia|Homozygous Familial Hypercholesterolemia	yes	yes	yes	yes	40.885
LDLRAD1	HGNC:32069	MGI:3652166	-	-	yes	no	no	no	NA
LDLRAD2	HGNC:32071	MGI:3588210	-	-	no	no	no	no	NA
LDLRAD3	HGNC:27046	MGI:2138856	-	-	no	no	no	no	NA
LDLRAD4	HGNC:1224	MGI:1277150	-	-	yes	no	no	no	NA
LDLRAP1	HGNC:18640	MGI:2140175	OMIM:603813|ORPHA:391665	Hypercholesterolemia, Familial, 4|Homozygous Familial Hypercholesterolemia	no	no	no	no	NA
LDOC1	HGNC:6548	MGI:2685212	-	-	no	no	no	no	NA
LEAP2	HGNC:29571	MGI:2672795	-	-	no	no	no	no	NA
LECT2	HGNC:6550	MGI:1278342	-	-	no	no	no	no	NA
LEF1	HGNC:6551	MGI:96770	-	-	yes	no	no	no	NA
LEKR1	HGNC:33765	MGI:3645902	-	-	no	no	no	no	NA
LELP1	HGNC:32046	MGI:1916582	-	-	no	no	no	no	NA
LEMD1	HGNC:18725	MGI:1922403	-	-	no	no	no	no	NA
LEMD2	HGNC:21244	MGI:2385045	OMIM:212500|OMIM:619322|ORPHA:441447|ORPHA:98994	Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy|Marbach-Rustad Progeroid Syndrome|Early-Onset Posterior Subcapsular Cataract|Total Early-Onset Cataract	yes	yes	yes	yes	42.97
LEMD3	HGNC:28887	MGI:3580376	OMIM:166700|ORPHA:166119|ORPHA:1879|ORPHA:94063	Buschke-Ollendorff Syndrome|Isolated Osteopoikilosis|Melorheostosis With Osteopoikilosis|12Q14 Microdeletion Syndrome	yes	yes	yes	yes	25.925
LENEP	HGNC:14429	MGI:1930020	-	-	no	no	no	no	NA
LENG1	HGNC:15502	MGI:1917007	-	-	no	no	no	no	NA
LENG8	HGNC:15500	MGI:2142195	-	-	no	no	no	no	NA
LENG9	HGNC:16306	MGI:2444509	-	-	no	no	no	no	NA
LEO1	HGNC:30401	MGI:2685031	-	-	yes	no	no	no	NA
LEP	HGNC:6553	MGI:104663	OMIM:614962|ORPHA:66628	Leptin Deficiency Or Dysfunction|Obesity Due To Congenital Leptin Deficiency	yes	yes	yes	yes	34.22
LEPR	HGNC:6554	MGI:104993	OMIM:614963|ORPHA:179494	Leptin Receptor Deficiency|Obesity Due To Leptin Receptor Gene Deficiency	yes	yes	yes	yes	60.25
LEPROT	HGNC:29477	MGI:2687005	-	-	yes	no	no	no	NA
LEPROTL1	HGNC:6555	MGI:1915442	-	-	yes	no	no	no	NA
LETM1	HGNC:6556	MGI:1932557	OMIM:620089|ORPHA:280	Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction|Wolf-Hirschhorn Syndrome	no	no	no	no	NA
LETM2	HGNC:14648	MGI:2444979	-	-	no	no	no	no	NA
LETMD1	HGNC:24241	MGI:1915864	-	-	yes	no	no	no	NA
LFNG	HGNC:6560	MGI:1095413	OMIM:609813|ORPHA:2311	Spondylocostal Dysostosis 3, Autosomal Recessive|Autosomal Recessive Spondylocostal Dysostosis	no	no	no	no	NA
LGALS1	HGNC:6561	MGI:96777	-	-	no	no	no	no	NA
LGALS12	HGNC:15788	MGI:1929094	-	-	no	no	no	no	NA
LGALS2	HGNC:6562	MGI:895068	OMIM:608446	Myocardial Infarction, Susceptibility To	no	no	no	no	NA
LGALS3	HGNC:6563	MGI:96778	-	-	yes	no	no	no	NA
LGALS3BP	HGNC:6564	MGI:99554	-	-	yes	no	no	no	NA
LGALS4	HGNC:6565	MGI:107536	-	-	yes	no	no	no	NA
LGALS8	HGNC:6569	MGI:1928481	-	-	no	no	no	no	NA
LGALSL	HGNC:25012	MGI:1916114	-	-	no	no	no	no	NA
LGI1	HGNC:6572	MGI:1861691	OMIM:600512|ORPHA:101046	Epilepsy, Familial Temporal Lobe, 1|Autosomal Dominant Epilepsy With Auditory Features	no	no	no	no	NA
LGI2	HGNC:18710	MGI:2180196	-	-	no	no	no	no	NA
LGI3	HGNC:18711	MGI:2182619	OMIM:620007	Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	yes	yes	yes	no	NA
LGI4	HGNC:18712	MGI:2180197	OMIM:617468|ORPHA:2680	Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect|Hypomyelination Neuropathy-Arthrogryposis Syndrome	yes	yes	yes	yes	30.66
LGMN	HGNC:9472	MGI:1330838	-	-	yes	no	no	no	NA
LGR4	HGNC:13299	MGI:1891468	OMIM:619613|OMIM:615311	Delayed Puberty, Self-Limited|Bone Mineral Density Quantitative Trait Locus 17	no	no	no	no	NA
LGR5	HGNC:4504	MGI:1341817	-	-	yes	no	no	no	NA
LGR6	HGNC:19719	MGI:2441805	-	-	yes	no	no	no	NA
LGSN	HGNC:21016	MGI:2672844	-	-	no	no	no	no	NA
LHCGR	HGNC:6585	MGI:96783	OMIM:176410|OMIM:238320|ORPHA:3000|ORPHA:619|ORPHA:96266|ORPHA:96265	Precocious Puberty, Male-Limited|Leydig Cell Hypoplasia, Type I|Familial Peripheral Male-Limited Precocious Puberty|Non Rare In Europe: Primary Ovarian Failure|Leydig Cell Hypoplasia Due To Partial Lh Resistance|Leydig Cell Hypoplasia Due To Complete Lh Resistance	yes	yes	yes	yes	17.68
LHFPL1	HGNC:6587	MGI:1891214	-	-	yes	no	no	no	NA
LHFPL2	HGNC:6588	MGI:2145236	-	-	no	no	no	no	NA
LHFPL3	HGNC:6589	MGI:1925076	-	-	no	no	no	no	NA
LHFPL4	HGNC:29568	MGI:3057108	-	-	yes	no	no	no	NA
LHFPL5	HGNC:21253	MGI:1915382	OMIM:610265|ORPHA:90636	Deafness, Autosomal Recessive 67|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	no	no	no	no	NA
LHFPL6	HGNC:6586	MGI:1920048	-	-	yes	no	no	no	NA
LHFPL7	HGNC:33725	MGI:2685700	-	-	yes	no	no	no	NA
LHPP	HGNC:30042	MGI:1923679	-	-	no	no	no	no	NA
LHX1	HGNC:6593	MGI:99783	ORPHA:261265	17Q12 Microdeletion Syndrome	yes	yes	yes	no	NA
LHX2	HGNC:6594	MGI:96785	-	-	no	no	no	no	NA
LHX3	HGNC:6595	MGI:102673	OMIM:221750|ORPHA:226307|ORPHA:231720	Pituitary Hormone Deficiency, Combined, 3|Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function|Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome	no	no	no	no	NA
LHX4	HGNC:21734	MGI:101776	OMIM:262700|ORPHA:226307|ORPHA:85442|ORPHA:95496|ORPHA:95494	Pituitary Hormone Deficiency, Combined, 4|Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function|Short Stature-Pituitary And Cerebellar Defects-Small Sella Turcica Syndrome|Pituitary Stalk Interruption Syndrome|Combined Pituitary Hormone Deficiencies, Genetic Forms	no	no	no	no	NA
LHX5	HGNC:14216	MGI:107792	-	-	yes	no	no	no	NA
LHX6	HGNC:21735	MGI:1306803	-	-	yes	no	no	no	NA
LHX8	HGNC:28838	MGI:1096343	-	-	no	no	no	no	NA
LHX9	HGNC:14222	MGI:1316721	-	-	no	no	no	no	NA
LIAS	HGNC:16429	MGI:1934604	OMIM:614462|ORPHA:401859	Hyperglycinemia, Lactic Acidosis, And Seizures|Lipoic Acid Synthetase Deficiency	no	no	no	no	NA
LIAT1	HGNC:33800	MGI:1921480	-	-	yes	no	no	no	NA
LIF	HGNC:6596	MGI:96787	-	-	no	no	no	no	NA
LIFR	HGNC:6597	MGI:96788	OMIM:601559|ORPHA:3206	Stuve-Wiedemann Syndrome 1|Stüve-Wiedemann Syndrome	yes	yes	yes	no	NA
LIG1	HGNC:6598	MGI:101789	OMIM:619774	Immunodeficiency 96	no	no	no	no	NA
LIG3	HGNC:6600	MGI:109152	OMIM:619780|ORPHA:298	Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)|Mitochondrial Neurogastrointestinal Encephalomyopathy	no	no	no	no	NA
LIG4	HGNC:6601	MGI:1335098	OMIM:606593|OMIM:254500|ORPHA:235|ORPHA:39041|ORPHA:99812	Lig4 Syndrome|Myeloma, Multiple|Dubowitz Syndrome|Omenn Syndrome	no	no	no	no	NA
LILRA5	HGNC:16309	MGI:3647196	-	-	no	no	no	no	NA
LILRB4	HGNC:6608	MGI:102702	-	-	yes	no	no	no	NA
LIM2	HGNC:6610	MGI:104698	OMIM:615277|ORPHA:98994	Cataract 19, Multiple Types|Total Early-Onset Cataract	yes	no	yes	no	NA
LIMA1	HGNC:24636	MGI:1920992	OMIM:618079	Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 8	yes	yes	no	no	NA
LIMCH1	HGNC:29191	MGI:1924819	-	-	yes	no	no	no	NA
LIMD1	HGNC:6612	MGI:1352502	-	-	yes	no	no	no	NA
LIMD2	HGNC:28142	MGI:1915053	-	-	no	no	no	no	NA
LIME1	HGNC:26016	MGI:1919949	-	-	no	no	no	no	NA
LIMK1	HGNC:6613	MGI:104572	ORPHA:904	Williams Syndrome	no	no	no	no	NA
LIMK2	HGNC:6614	MGI:1197517	-	-	yes	no	no	no	NA
LIMS1	HGNC:6616	MGI:1195263	-	-	no	no	no	no	NA
LIMS2	HGNC:16084	MGI:2385067	OMIM:616827	Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	no	no	no	no	NA
LIN28A	HGNC:15986	MGI:1890546	-	-	no	no	no	no	NA
LIN28B	HGNC:32207	MGI:3584032	ORPHA:635	Neuroblastoma	yes	yes	yes	no	NA
LIN37	HGNC:33234	MGI:1922910	-	-	no	no	no	no	NA
LIN52	HGNC:19856	MGI:3045391	-	-	yes	no	no	no	NA
LIN54	HGNC:25397	MGI:2140902	-	-	no	no	no	no	NA
LIN7A	HGNC:17787	MGI:2135609	-	-	yes	no	no	no	NA
LIN7B	HGNC:17788	MGI:1330858	-	-	no	no	no	no	NA
LIN7C	HGNC:17789	MGI:1330839	-	-	no	no	no	no	NA
LIN9	HGNC:30830	MGI:1919818	-	-	no	no	no	no	NA
LINC02491	HGNC:53475	MGI:1923805	-	-	yes	no	no	no	NA
LINGO1	HGNC:21205	MGI:1915522	OMIM:618103|ORPHA:862	Intellectual Developmental Disorder, Autosomal Recessive 64|Non Rare In Europe: Hereditary Essential Tremor	no	no	no	no	NA
LINGO2	HGNC:21207	MGI:2442298	-	-	yes	no	no	no	NA
LINGO3	HGNC:21206	MGI:3609246	-	-	yes	no	no	no	NA
LINGO4	HGNC:31814	MGI:2444651	-	-	no	no	no	no	NA
LINS1	HGNC:30922	MGI:1919885	OMIM:614340|ORPHA:88616	Intellectual Developmental Disorder, Autosomal Recessive 27|Autosomal Recessive Non-Syndromic Intellectual Disability	yes	yes	yes	no	NA
LIPA	HGNC:6617	MGI:96789	OMIM:278000|OMIM:620151|ORPHA:406|ORPHA:75234|ORPHA:75233	Cholesteryl Ester Storage Disease|Wolman Disease|Non Rare In Europe: Heterozygous Familial Hypercholesterolemia	no	no	no	no	NA
LIPC	HGNC:6619	MGI:96216	OMIM:125853|OMIM:614025|OMIM:612797|ORPHA:140905	Type 2 Diabetes Mellitus|Hepatic Lipase Deficiency|High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 12|Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	no	no	no	no	NA
LIPE	HGNC:6621	MGI:96790	OMIM:615980|ORPHA:435660	Lipodystrophy, Familial Partial, Type 6|Lipe-Related Familial Partial Lipodystrophy	yes	yes	yes	yes	37.1
LIPF	HGNC:6622	MGI:1914967	-	-	no	no	no	no	NA
LIPG	HGNC:6623	MGI:1341803	-	-	no	no	no	no	NA
LIPH	HGNC:18483	MGI:2388029	OMIM:604379|ORPHA:170|ORPHA:55654	Hypotrichosis 7|Woolly Hair|Hypotrichosis Simplex	no	no	no	no	NA
LIPI	HGNC:18821	MGI:2443868	ORPHA:413	Non Rare In Europe: Hyperlipoproteinemia Type 4	no	no	no	no	NA
LIPK	HGNC:23444	MGI:2679259	-	-	no	no	no	no	NA
LIPM	HGNC:23455	MGI:1926003	-	-	yes	no	no	no	NA
LIPN	HGNC:23452	MGI:1917416	OMIM:613943|ORPHA:313	Ichthyosis, Congenital, Autosomal Recessive 8|Lamellar Ichthyosis	yes	yes	yes	no	NA
LIPT1	HGNC:29569	MGI:3645211	OMIM:616299|ORPHA:401862	Lipoyltransferase 1 Deficiency|Lipoyl Transferase 1 Deficiency	yes	yes	yes	no	NA
LIPT2	HGNC:37216	MGI:1914414	OMIM:617668|ORPHA:447795	Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities|Lipoyl Transferase 2 Deficiency	no	no	no	no	NA
LITAF	HGNC:16841	MGI:1929512	OMIM:601098|ORPHA:101083	Charcot-Marie-Tooth Disease, Demyelinating, Type 1C|Charcot-Marie-Tooth Disease Type 1C	no	no	no	no	NA
LITAFD	HGNC:53927	MGI:3643507	-	-	no	no	no	no	NA
LIX1	HGNC:18581	MGI:1913893	-	-	no	no	no	no	NA
LIX1L	HGNC:28715	MGI:3036267	-	-	yes	no	no	no	NA
LKAAEAR1	HGNC:33718	MGI:2685538	-	-	yes	no	no	no	NA
LLCFC1	HGNC:21750	MGI:1923856	-	-	yes	no	no	no	NA
LLGL1	HGNC:6628	MGI:102682	-	-	no	no	no	no	NA
LLGL2	HGNC:6629	MGI:1918843	-	-	yes	no	no	no	NA
LLPH	HGNC:28229	MGI:1913475	-	-	no	no	no	no	NA
LMAN1	HGNC:6631	MGI:1917611	OMIM:227300|ORPHA:35909	Factor V And Factor Viii, Combined Deficiency Of, 1|Combined Deficiency Of Factor V And Factor Viii	no	no	no	no	NA
LMAN1L	HGNC:6632	MGI:2667537	-	-	yes	no	no	no	NA
LMAN2	HGNC:16986	MGI:1914140	-	-	no	no	no	no	NA
LMAN2L	HGNC:19263	MGI:2443010	OMIM:617863|OMIM:616887|ORPHA:88616	Intellectual Developmental Disorder, Autosomal Dominant 69|Intellectual Developmental Disorder, Autosomal Recessive 52|Autosomal Recessive Non-Syndromic Intellectual Disability	no	no	no	no	NA
LMBR1	HGNC:13243	MGI:1861746	OMIM:200500|OMIM:188740|OMIM:135750|OMIM:174500|OMIM:186200|OMIM:190605|ORPHA:931|ORPHA:988|ORPHA:2378|ORPHA:93321|ORPHA:93336|ORPHA:93405	Acheiropody|Tibia, Hypoplasia Or Aplasia Of, With Polydactyly|Laurin-Sandrow Syndrome|Polydactyly, Preaxial Ii|Syndactyly, Type Iv|Triphalangeal Thumb With Polysyndactyly|Acheiropodia|Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome|Radial Hemimelia|Polydactyly Of A Triphalangeal Thumb|Syndactyly Type 4	no	no	no	no	NA
LMBR1L	HGNC:18268	MGI:1289247	-	-	no	no	no	no	NA
LMBRD1	HGNC:23038	MGI:1915671	OMIM:277380|ORPHA:79284	Methylmalonic Aciduria And Homocystinuria, Cblf Type|Methylmalonic Acidemia With Homocystinuria Type Cblf	yes	yes	yes	yes	32.905
LMBRD2	HGNC:25287	MGI:2444173	OMIM:619694|ORPHA:528084	Developmental Delay With Variable Neurologic And Brain Abnormalities|Non-Specific Syndromic Intellectual Disability	no	no	no	no	NA
LMCD1	HGNC:6633	MGI:1353635	-	-	yes	no	no	no	NA
LMF1	HGNC:14154	MGI:1923733	OMIM:246650|ORPHA:535453	Lipase Deficiency, Combined|Familial Lipase Maturation Factor 1 Deficiency	no	no	no	no	NA
LMF2	HGNC:25096	MGI:2146015	-	-	no	no	no	no	NA
LMLN	HGNC:15991	MGI:2444736	-	-	no	no	no	no	NA
LMNA	HGNC:6636	MGI:96794	OMIM:115200|OMIM:605588|OMIM:181350|OMIM:616516|OMIM:610140|OMIM:176670|OMIM:151660|OMIM:212112|OMIM:248370|OMIM:613205|OMIM:619793|ORPHA:168796|ORPHA:154|ORPHA:1662|ORPHA:157973|ORPHA:2348|ORPHA:2229|ORPHA:740|ORPHA:280365|ORPHA:363618|ORPHA:293910|ORPHA:293899|ORPHA:293888|ORPHA:300751|ORPHA:79084|ORPHA:54260|ORPHA:90153|ORPHA:79474|ORPHA:98853|ORPHA:98855|ORPHA:98856	Cardiomyopathy, Dilated, 1A|Charcot-Marie-Tooth Disease, Axonal, Type 2B1|Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant|Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive|Heart-Hand Syndrome, Slovenian Type|Hutchinson-Gilford Progeria Syndrome|Lipodystrophy, Familial Partial, Type 2|Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism|Mandibuloacral Dysplasia With Type A Lipodystrophy|Muscular Dystrophy, Congenital, Lmna-Related|Restrictive Dermopathy 2|Familial Isolated Dilated Cardiomyopathy|Restrictive Dermopathy|Congenital Muscular Dystrophy Due To Lmna Mutation|Familial Partial Lipodystrophy, Dunnigan Type|Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome|Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy|Lmna-Related Cardiocutaneous Progeria Syndrome|Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form|Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form|Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form|Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation|Familial Partial Lipodystrophy, Köbberling Type|Left Ventricular Noncompaction|Atypical Werner Syndrome|Autosomal Dominant Emery-Dreifuss Muscular Dystrophy|Autosomal Recessive Emery-Dreifuss Muscular Dystrophy|Charcot-Marie-Tooth Disease Type 2B1	yes	yes	yes	yes	51.51
LMNB1	HGNC:6637	MGI:96795	OMIM:169500|OMIM:619179|ORPHA:2514|ORPHA:99027	Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant|Microcephaly 26, Primary, Autosomal Dominant|Autosomal Dominant Primary Microcephaly|Adult-Onset Autosomal Dominant Leukodystrophy	yes	yes	yes	yes	30.005
LMNB2	HGNC:6638	MGI:96796	OMIM:616540|OMIM:619180|OMIM:608709|ORPHA:457265|ORPHA:79087	Epilepsy, Progressive Myoclonic, 9|Microcephaly 27, Primary, Autosomal Dominant|Lipodystrophy, Partial, Acquired, Susceptibility To|Progressive Myoclonic Epilepsy Type 9|Acquired Partial Lipodystrophy	yes	yes	yes	yes	24.57
LMNTD1	HGNC:26683	MGI:1921321	-	-	no	no	no	no	NA
LMNTD2	HGNC:28561	MGI:1919250	-	-	no	no	no	no	NA
LMO1	HGNC:6641	MGI:102812	ORPHA:635	Neuroblastoma	yes	yes	yes	no	NA
LMO2	HGNC:6642	MGI:102811	-	-	no	no	no	no	NA
LMO3	HGNC:6643	MGI:102810	-	-	yes	no	no	no	NA
LMO4	HGNC:6644	MGI:109360	-	-	no	no	no	no	NA
LMO7	HGNC:6646	MGI:1353586	-	-	yes	no	no	no	NA
LMOD1	HGNC:6647	MGI:2135671	OMIM:619362|ORPHA:2241	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3|Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	yes	yes	yes	yes	22.62
LMOD2	HGNC:6648	MGI:2135672	OMIM:619897|ORPHA:154	Cardiomyopathy, Dilated, 2G|Familial Isolated Dilated Cardiomyopathy	no	no	no	no	NA
LMOD3	HGNC:6649	MGI:2444169	OMIM:616165|ORPHA:171430|ORPHA:171436	Nemaline Myopathy 10|Severe Congenital Nemaline Myopathy|Typical Nemaline Myopathy	yes	yes	yes	yes	38.565
LMTK2	HGNC:17880	MGI:3036247	-	-	yes	no	no	no	NA
LMTK3	HGNC:19295	MGI:3039582	-	-	no	no	no	no	NA
LMX1A	HGNC:6653	MGI:1888519	OMIM:601412	Deafness, Autosomal Dominant 7	no	no	no	no	NA
LMX1B	HGNC:6654	MGI:1100513	OMIM:256020|OMIM:161200|ORPHA:2614|ORPHA:2613|ORPHA:495818	Focal Segmental Glomerulosclerosis 10|Nail-Patella Syndrome|Nail-Patella-Like Renal Disease|9Q33.3Q34.11 Microdeletion Syndrome	no	no	no	no	NA
LNP1	HGNC:28014	MGI:5011982	-	-	no	no	no	no	NA
LNPEP	HGNC:6656	MGI:2387123	-	-	yes	no	no	no	NA
LNPK	HGNC:21610	MGI:1918115	OMIM:618090	Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	yes	yes	yes	yes	59.13
LNX1	HGNC:6657	MGI:1278335	-	-	no	no	no	no	NA
LNX2	HGNC:20421	MGI:2155959	-	-	yes	no	no	no	NA
LONP1	HGNC:9479	MGI:1921392	OMIM:600373|ORPHA:2140|ORPHA:1458|ORPHA:79243	Codas Syndrome|Congenital Diaphragmatic Hernia|Pyruvate Dehydrogenase E1-Alpha Deficiency	yes	yes	yes	yes	37.995
LONP2	HGNC:20598	MGI:1914137	-	-	no	no	no	no	NA
LONRF1	HGNC:26302	MGI:3609241	-	-	no	no	no	no	NA
LONRF2	HGNC:24788	MGI:1920209	-	-	yes	no	no	no	NA
LONRF3	HGNC:21152	MGI:1921615	-	-	yes	no	no	no	NA
LOX	HGNC:6664	MGI:96817	OMIM:617168|ORPHA:91387	Aortic Aneurysm, Familial Thoracic 10|Familial Thoracic Aortic Aneurysm And Aortic Dissection	yes	yes	yes	yes	25.145
LOXHD1	HGNC:26521	MGI:1914609	OMIM:613079|ORPHA:90636	Deafness, Autosomal Recessive 77|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	no	no	no	no	NA
LOXL1	HGNC:6665	MGI:106096	OMIM:177650|ORPHA:529819	Exfoliation Syndrome|Non Rare In Europe: Exfoliation Syndrome	yes	yes	yes	yes	25.21
LOXL2	HGNC:6666	MGI:2137913	-	-	yes	no	no	no	NA
LOXL3	HGNC:13869	MGI:1337004	OMIM:619781	Myopia 28, Autosomal Recessive	no	no	no	no	NA
LOXL4	HGNC:17171	MGI:1914823	-	-	yes	no	no	no	NA
LPAR1	HGNC:3166	MGI:108429	-	-	yes	no	no	no	NA
LPAR2	HGNC:3168	MGI:1858422	-	-	no	no	no	no	NA
LPAR3	HGNC:14298	MGI:1929469	-	-	no	no	no	no	NA
LPAR4	HGNC:4478	MGI:1925384	ORPHA:146	Differentiated Thyroid Carcinoma	yes	yes	no	no	NA
LPAR5	HGNC:13307	MGI:2685918	-	-	yes	no	no	no	NA
LPAR6	HGNC:15520	MGI:1914418	OMIM:278150|ORPHA:170|ORPHA:55654	Hypotrichosis 8|Woolly Hair|Hypotrichosis Simplex	yes	yes	yes	no	NA
LPCAT1	HGNC:25718	MGI:2384812	-	-	yes	no	no	no	NA
LPCAT2	HGNC:26032	MGI:3606214	-	-	yes	no	no	no	NA
LPCAT3	HGNC:30244	MGI:1315211	-	-	yes	no	no	no	NA
LPCAT4	HGNC:30059	MGI:2138993	-	-	no	no	no	no	NA
LPGAT1	HGNC:28985	MGI:2446186	-	-	yes	no	no	no	NA
LPIN1	HGNC:13345	MGI:1891340	OMIM:268200|ORPHA:99845	Myoglobinuria, Acute Recurrent, Autosomal Recessive|Genetic Recurrent Myoglobinuria	no	no	no	no	NA
LPIN2	HGNC:14450	MGI:1891341	OMIM:609628|ORPHA:77297	Majeed Syndrome	yes	yes	yes	yes	42.575
LPIN3	HGNC:14451	MGI:1891342	-	-	yes	no	no	no	NA
LPL	HGNC:6677	MGI:96820	OMIM:144250|OMIM:238600|ORPHA:309015	Hyperlipidemia, Familial Combined, 3|Hyperlipoproteinemia, Type I|Familial Lipoprotein Lipase Deficiency	no	no	no	no	NA
LPO	HGNC:6678	MGI:1923363	-	-	yes	no	no	no	NA
LPP	HGNC:6679	MGI:2441849	OMIM:601626	Leukemia, Acute Myeloid	yes	yes	yes	no	NA
LPXN	HGNC:14061	MGI:2147677	-	-	yes	no	no	no	NA
LRAT	HGNC:6685	MGI:1891259	OMIM:613341|ORPHA:791|ORPHA:65|ORPHA:364055	Leber Congenital Amaurosis 14|Retinitis Pigmentosa|Leber Congenital Amaurosis|Severe Early-Childhood-Onset Retinal Dystrophy	yes	yes	yes	no	NA
LRATD1	HGNC:20743	MGI:2145011	-	-	no	no	no	no	NA
LRATD2	HGNC:24166	MGI:3026924	-	-	yes	no	no	no	NA
LRBA	HGNC:1742	MGI:1933162	OMIM:614700|ORPHA:445018	Immunodeficiency, Common Variable, 8, With Autoimmunity|Combined Immunodeficiency Due To Lrba Deficiency	yes	yes	yes	no	NA
LRCH1	HGNC:20309	MGI:2443390	-	-	yes	no	no	no	NA
LRCH2	HGNC:29292	MGI:2147870	-	-	yes	no	no	no	NA
LRCH3	HGNC:28637	MGI:1917394	-	-	no	no	no	no	NA
LRCH4	HGNC:6691	MGI:1917193	-	-	no	no	no	no	NA
LRCOL1	HGNC:44160	MGI:2686525	-	-	no	no	no	no	NA
LRFN1	HGNC:29290	MGI:2136810	-	-	yes	no	no	no	NA
LRFN2	HGNC:21226	MGI:1917780	-	-	yes	no	no	no	NA
LRFN3	HGNC:28370	MGI:2442512	-	-	yes	no	no	no	NA
LRFN4	HGNC:28456	MGI:2385612	-	-	no	no	no	no	NA
LRFN5	HGNC:20360	MGI:2144814	-	-	no	no	no	no	NA
LRG1	HGNC:29480	MGI:1924155	-	-	yes	no	no	no	NA
LRGUK	HGNC:21964	MGI:1921604	-	-	yes	no	no	no	NA
LRIF1	HGNC:30299	MGI:2445214	OMIM:619477	Facioscapulohumeral Muscular Dystrophy 3, Digenic	yes	yes	yes	no	NA
LRIG1	HGNC:17360	MGI:107935	-	-	yes	no	no	no	NA
LRIG2	HGNC:20889	MGI:2443718	OMIM:615112|ORPHA:2704	Urofacial Syndrome 2|Ochoa Syndrome	no	no	no	no	NA
LRIG3	HGNC:30991	MGI:2443955	-	-	yes	no	no	no	NA
LRIT1	HGNC:23404	MGI:2385320	-	-	no	no	no	no	NA
LRIT2	HGNC:23443	MGI:2444885	-	-	no	no	no	no	NA
LRIT3	HGNC:24783	MGI:2685267	OMIM:615058|ORPHA:215	Night Blindness, Congenital Stationary, Type 1F|Congenital Stationary Night Blindness	yes	yes	yes	no	NA
LRMDA	HGNC:23405	MGI:1923883	OMIM:615179|ORPHA:352745	Albinism, Oculocutaneous, Type Vii|Oculocutaneous Albinism Type 7	yes	yes	yes	no	NA
LRP1	HGNC:6692	MGI:96828	OMIM:604093|ORPHA:2340|ORPHA:79100	Keratosis Pilaris Atrophicans|Keratosis Follicularis Spinulosa Decalvans|Atrophoderma Vermiculata	yes	yes	yes	yes	25.55
LRP10	HGNC:14553	MGI:1929480	-	-	no	no	no	no	NA
LRP11	HGNC:16936	MGI:2442989	-	-	no	no	no	no	NA
LRP12	HGNC:31708	MGI:2443132	OMIM:620452|OMIM:164310|ORPHA:98897	Amyotrophic Lateral Sclerosis 28|Oculopharyngodistal Myopathy 1|Oculopharyngodistal Myopathy	no	no	no	no	NA
LRP1B	HGNC:6693	MGI:2151136	-	-	yes	no	no	no	NA
LRP2	HGNC:6694	MGI:95794	OMIM:222448|ORPHA:2143	Donnai-Barrow Syndrome	no	no	no	no	NA
LRP2BP	HGNC:25434	MGI:1914870	-	-	no	no	no	no	NA
LRP3	HGNC:6695	MGI:3584516	-	-	no	no	no	no	NA
LRP4	HGNC:6696	MGI:2442252	OMIM:616304|OMIM:212780|OMIM:614305|ORPHA:3152|ORPHA:3258|ORPHA:98913	Myasthenic Syndrome, Congenital, 17|Cenani-Lenz Syndactyly Syndrome|Sclerosteosis 2|Sclerosteosis|Cenani-Lenz Syndrome|Postsynaptic Congenital Myasthenic Syndromes	no	no	no	no	NA
LRP5	HGNC:6697	MGI:1278315	OMIM:144750|OMIM:601813|OMIM:607634|OMIM:259770|OMIM:617875|OMIM:601884|ORPHA:178377|ORPHA:2788|ORPHA:2790|ORPHA:2783|ORPHA:2924|ORPHA:3416|ORPHA:891|ORPHA:498481|ORPHA:90050	Endosteal Hyperostosis, Autosomal Dominant|Exudative Vitreoretinopathy 4|Osteopetrosis, Autosomal Dominant 1|Osteoporosis-Pseudoglioma Syndrome|Polycystic Liver Disease 4 With Or Without Kidney Cysts|Bone Mineral Density Quantitative Trait Locus 1|Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome|Endosteal Hyperostosis, Worth Type|Autosomal Dominant Osteopetrosis Type 1|Isolated Polycystic Liver Disease|Hyperostosis Corticalis Generalisata|Familial Exudative Vitreoretinopathy|Lrp5-Related Primary Osteoporosis|Retinopathy Of Prematurity	no	no	no	no	NA
LRP6	HGNC:6698	MGI:1298218	OMIM:616724|OMIM:610947|ORPHA:411969|ORPHA:99798	Tooth Agenesis, Selective, 7|Coronary Artery Disease, Autosomal Dominant 2|Non Rare In Europe: Metabolic Syndrome|Oligodontia	no	no	no	no	NA
LRP8	HGNC:6700	MGI:1340044	OMIM:608446	Myocardial Infarction, Susceptibility To	no	no	no	no	NA
LRPAP1	HGNC:6701	MGI:96829	OMIM:615431|ORPHA:98619	Myopia 23, Autosomal Recessive|Rare Isolated Myopia	no	no	no	no	NA
LRPPRC	HGNC:15714	MGI:1919666	OMIM:220111|ORPHA:70472	Mitochondrial Complex Iv Deficiency, Nuclear Type 5|Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	yes	no	yes	no	NA
LRR1	HGNC:19742	MGI:1916956	-	-	yes	no	no	no	NA
LRRC1	HGNC:14307	MGI:2442313	-	-	no	no	no	no	NA
LRRC10	HGNC:20264	MGI:2448063	-	-	yes	no	no	no	NA
LRRC10B	HGNC:37215	MGI:2685551	-	-	no	no	no	no	NA
LRRC14	HGNC:20419	MGI:2445060	-	-	no	no	no	no	NA
LRRC14B	HGNC:37268	MGI:2145269	-	-	no	no	no	no	NA
LRRC15	HGNC:20818	MGI:1921738	-	-	yes	no	no	no	NA
LRRC17	HGNC:16895	MGI:1921761	-	-	yes	no	no	no	NA
LRRC18	HGNC:23199	MGI:1914830	-	-	no	no	no	no	NA
LRRC19	HGNC:23379	MGI:2140219	-	-	no	no	no	no	NA
LRRC2	HGNC:14676	MGI:1921499	-	-	yes	no	no	no	NA
LRRC20	HGNC:23421	MGI:2387182	-	-	yes	no	no	no	NA
LRRC23	HGNC:19138	MGI:1315192	-	-	yes	no	no	no	NA
LRRC24	HGNC:28947	MGI:3605040	-	-	no	no	no	no	NA
LRRC25	HGNC:29806	MGI:2445284	-	-	no	no	no	no	NA
LRRC26	HGNC:31409	MGI:2385129	-	-	no	no	no	no	NA
LRRC27	HGNC:29346	MGI:1923862	-	-	no	no	no	no	NA
LRRC28	HGNC:28355	MGI:1915689	-	-	no	no	no	no	NA
LRRC3	HGNC:14965	MGI:2447899	-	-	yes	no	no	no	NA
LRRC30	HGNC:30219	MGI:2685172	-	-	yes	no	no	no	NA
LRRC31	HGNC:26261	MGI:2443864	-	-	no	no	no	no	NA
LRRC32	HGNC:4161	MGI:93882	OMIM:619074	Cleft Palate, Proliferative Retinopathy, And Developmental Delay	no	no	no	no	NA
LRRC34	HGNC:28408	MGI:1919077	-	-	no	no	no	no	NA
LRRC36	HGNC:25615	MGI:2448585	-	-	yes	no	no	no	NA
LRRC38	HGNC:27005	MGI:2442845	-	-	yes	no	no	no	NA
LRRC39	HGNC:28228	MGI:1924557	-	-	no	no	no	no	NA
LRRC3B	HGNC:28105	MGI:2384996	-	-	no	no	no	no	NA
LRRC3C	HGNC:40034	MGI:2684858	-	-	no	no	no	no	NA
LRRC4	HGNC:15586	MGI:2182081	-	-	no	no	no	no	NA
LRRC40	HGNC:26004	MGI:1914394	-	-	no	no	no	no	NA
LRRC41	HGNC:16917	MGI:2441984	-	-	yes	no	no	no	NA
LRRC42	HGNC:28792	MGI:1925059	-	-	no	no	no	no	NA
LRRC43	HGNC:28562	MGI:2685907	-	-	no	no	no	no	NA
LRRC45	HGNC:28302	MGI:2387183	-	-	no	no	no	no	NA
LRRC46	HGNC:25047	MGI:1916547	-	-	no	no	no	no	NA
LRRC47	HGNC:29207	MGI:1920196	-	-	no	no	no	no	NA
LRRC49	HGNC:25965	MGI:2442689	-	-	yes	no	no	no	NA
LRRC4B	HGNC:25042	MGI:3027390	-	-	yes	no	no	no	NA
LRRC4C	HGNC:29317	MGI:2442636	-	-	no	no	no	no	NA
LRRC52	HGNC:32156	MGI:1924118	-	-	no	no	no	no	NA
LRRC55	HGNC:32324	MGI:2685197	-	-	yes	no	no	no	NA
LRRC56	HGNC:25430	MGI:1917802	OMIM:618254|ORPHA:244	Ciliary Dyskinesia, Primary, 39|Primary Ciliary Dyskinesia	yes	yes	yes	yes	53.525
LRRC57	HGNC:26719	MGI:1913856	-	-	no	no	no	no	NA
LRRC58	HGNC:26968	MGI:2443542	-	-	no	no	no	no	NA
LRRC59	HGNC:28817	MGI:2138133	-	-	no	no	no	no	NA
LRRC61	HGNC:21704	MGI:2652848	-	-	no	no	no	no	NA
LRRC63	HGNC:34296	MGI:1918109	-	-	no	no	no	no	NA
LRRC66	HGNC:34299	MGI:2387634	-	-	no	no	no	no	NA
LRRC69	HGNC:34303	MGI:1920564	-	-	yes	no	no	no	NA
LRRC7	HGNC:18531	MGI:2676665	-	-	no	no	no	no	NA
LRRC71	HGNC:26556	MGI:1921735	-	-	yes	no	no	no	NA
LRRC72	HGNC:42972	MGI:1920830	-	-	no	no	no	no	NA
LRRC73	HGNC:21375	MGI:2684934	-	-	no	no	no	no	NA
LRRC74A	HGNC:23346	MGI:3646959	-	-	no	no	no	no	NA
LRRC74B	HGNC:34301	MGI:1921935	-	-	no	no	no	no	NA
LRRC75A	HGNC:32403	MGI:2682293	-	-	no	no	no	no	NA
LRRC75B	HGNC:33155	MGI:2143657	-	-	no	no	no	no	NA
LRRC8A	HGNC:19027	MGI:2652847	OMIM:613506|ORPHA:33110	Agammaglobulinemia 5, Autosomal Dominant|Autosomal Agammaglobulinemia	yes	yes	yes	yes	32.15
LRRC8B	HGNC:30692	MGI:2141353	-	-	no	no	no	no	NA
LRRC8C	HGNC:25075	MGI:2140839	-	-	yes	no	no	no	NA
LRRC8D	HGNC:16992	MGI:1922368	-	-	yes	no	no	no	NA
LRRC8E	HGNC:26272	MGI:1919517	-	-	no	no	no	no	NA
LRRC9	HGNC:19848	MGI:1925507	-	-	no	no	no	no	NA
LRRCC1	HGNC:29373	MGI:1918960	-	-	yes	no	no	no	NA
LRRD1	HGNC:34300	MGI:3045299	-	-	no	no	no	no	NA
LRRFIP1	HGNC:6702	MGI:1342770	-	-	yes	no	no	no	NA
LRRFIP2	HGNC:6703	MGI:1918518	-	-	no	no	no	no	NA
LRRIQ1	HGNC:25708	MGI:1922228	-	-	no	no	no	no	NA
LRRIQ3	HGNC:28318	MGI:1921685	-	-	no	no	no	no	NA
LRRIQ4	HGNC:34298	MGI:1915557	-	-	no	no	no	no	NA
LRRK1	HGNC:18608	MGI:2142227	OMIM:615198|ORPHA:500548	Osteosclerotic Metaphyseal Dysplasia	yes	yes	yes	yes	66.905
LRRK2	HGNC:18618	MGI:1913975	OMIM:607060|ORPHA:2828|ORPHA:411602	Parkinson Disease 8, Autosomal Dominant|Young-Onset Parkinson Disease|Hereditary Late-Onset Parkinson Disease	yes	no	yes	no	NA
LRRN1	HGNC:20980	MGI:106038	-	-	no	no	no	no	NA
LRRN2	HGNC:16914	MGI:106037	-	-	no	no	no	no	NA
LRRN3	HGNC:17200	MGI:106036	-	-	yes	no	no	no	NA
LRRN4	HGNC:16208	MGI:2445154	-	-	no	no	no	no	NA
LRRN4CL	HGNC:33724	MGI:1916102	-	-	no	no	no	no	NA
LRRTM1	HGNC:19408	MGI:2389173	-	-	yes	no	no	no	NA
LRRTM2	HGNC:19409	MGI:2389174	-	-	yes	no	no	no	NA
LRRTM3	HGNC:19410	MGI:2389177	-	-	yes	no	no	no	NA
LRRTM4	HGNC:19411	MGI:2389180	-	-	no	no	no	no	NA
LRSAM1	HGNC:25135	MGI:2684789	OMIM:614436|ORPHA:300319	Charcot-Marie-Tooth Disease, Axonal, Type 2P|Charcot-Marie-Tooth Disease Type 2P	yes	yes	yes	no	NA
LRTM1	HGNC:25023	MGI:2442106	-	-	no	no	no	no	NA
LRTM2	HGNC:32443	MGI:2141485	-	-	no	no	no	no	NA
LRWD1	HGNC:21769	MGI:1918985	-	-	yes	no	no	no	NA
LSAMP	HGNC:6705	MGI:1261760	-	-	no	no	no	no	NA
LSG1	HGNC:25652	MGI:107236	-	-	yes	no	no	no	NA
LSM1	HGNC:20472	MGI:1914457	-	-	yes	no	no	no	NA
LSM10	HGNC:17562	MGI:2151045	-	-	yes	no	no	no	NA
LSM11	HGNC:30860	MGI:1919540	OMIM:619486|ORPHA:51	Aicardi-Goutieres Syndrome 8|Aicardi-Goutières Syndrome	yes	no	yes	no	NA
LSM12	HGNC:26407	MGI:1919592	-	-	no	no	no	no	NA
LSM14A	HGNC:24489	MGI:1914320	-	-	yes	no	no	no	NA
LSM14B	HGNC:15887	MGI:3040677	-	-	yes	no	no	no	NA
LSM2	HGNC:13940	MGI:90676	-	-	yes	no	no	no	NA
LSM3	HGNC:17874	MGI:1914928	-	-	no	no	no	no	NA
LSM4	HGNC:17259	MGI:1354692	-	-	no	no	no	no	NA
LSM5	HGNC:17162	MGI:1913623	-	-	no	no	no	no	NA
LSM6	HGNC:17017	MGI:1925901	-	-	no	no	no	no	NA
LSM7	HGNC:20470	MGI:1913344	-	-	no	no	no	no	NA
LSM8	HGNC:20471	MGI:1923772	-	-	yes	no	no	no	NA
LSMEM1	HGNC:22036	MGI:2685735	-	-	no	no	no	no	NA
LSMEM2	HGNC:26781	MGI:3612240	-	-	no	no	no	no	NA
LSP1	HGNC:6707	MGI:96832	-	-	no	no	no	no	NA
LSR	HGNC:29572	MGI:1927471	-	-	no	no	no	no	NA
LSS	HGNC:6708	MGI:1336155	OMIM:618840|OMIM:616509|OMIM:618275|ORPHA:1366|ORPHA:2850|ORPHA:55654|ORPHA:98994	Alopecia-Intellectual Disability Syndrome 4|Cataract 44|Hypotrichosis 14|Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia|Alopecia-Intellectual Disability Syndrome|Hypotrichosis Simplex|Total Early-Onset Cataract	yes	yes	yes	yes	65.75
LST1	HGNC:14189	MGI:1096324	-	-	yes	no	no	no	NA
LTA	HGNC:6709	MGI:104797	OMIM:610988|OMIM:608446|OMIM:607507	Leprosy, Susceptibility To, 4|Myocardial Infarction, Susceptibility To|Psoriatic Arthritis, Susceptibility To	yes	yes	no	no	NA
LTA4H	HGNC:6710	MGI:96836	-	-	yes	no	no	no	NA
LTB	HGNC:6711	MGI:104796	-	-	no	no	no	no	NA
LTB4R	HGNC:6713	MGI:1309472	-	-	no	no	no	no	NA
LTB4R2	HGNC:19260	MGI:1888501	-	-	no	no	no	no	NA
LTBP1	HGNC:6714	MGI:109151	OMIM:619451|ORPHA:90349	Cutis Laxa, Autosomal Recessive, Type Iie|Autosomal Recessive Cutis Laxa Type 1	yes	yes	yes	yes	46.48
LTBP2	HGNC:6715	MGI:99502	OMIM:614819|OMIM:613086|OMIM:251750|ORPHA:3449|ORPHA:238763|ORPHA:98976	Weill-Marchesani Syndrome 3|Glaucoma 3, Primary Congenital, D|Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma|Weill-Marchesani Syndrome|Glaucoma Secondary To Spherophakia/Ectopia Lentis And Megalocornea|Congenital Glaucoma	yes	yes	yes	no	NA
LTBP3	HGNC:6716	MGI:1101355	OMIM:601216|OMIM:617809|ORPHA:969|ORPHA:2227|ORPHA:2623|ORPHA:2899	Dental Anomalies And Short Stature|Geleophysic Dysplasia 3|Acromicric Dysplasia|Non Rare In Europe: Hypodontia|Geleophysic Dysplasia|Brachyolmia-Amelogenesis Imperfecta Syndrome	no	no	no	no	NA
LTBP4	HGNC:6717	MGI:1321395	OMIM:613177|ORPHA:221145|ORPHA:98896	Cutis Laxa, Autosomal Recessive, Type Ic|Cutis Laxa With Severe Pulmonary, Gastrointestinal And Urinary Anomalies|Duchenne Muscular Dystrophy	yes	yes	yes	yes	30.65
LTBR	HGNC:6718	MGI:104875	-	-	no	no	no	no	NA
LTC4S	HGNC:6719	MGI:107498	OMIM:614037	Leukotriene C4 Synthase Deficiency	no	no	no	no	NA
LTF	HGNC:6720	MGI:96837	-	-	no	no	no	no	NA
LTK	HGNC:6721	MGI:96840	-	-	yes	no	no	no	NA
LTN1	HGNC:13082	MGI:1926163	-	-	yes	no	no	no	NA
LTO1	HGNC:17589	MGI:1919534	-	-	no	no	no	no	NA
LTV1	HGNC:21173	MGI:2447810	OMIM:620199	Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses	yes	yes	yes	no	NA
LUC7L	HGNC:6723	MGI:1914228	-	-	yes	no	no	no	NA
LUC7L2	HGNC:21608	MGI:2183260	-	-	yes	no	no	no	NA
LUC7L3	HGNC:24309	MGI:1914934	-	-	yes	no	no	no	NA
LUM	HGNC:6724	MGI:109347	-	-	yes	no	no	no	NA
LURAP1	HGNC:32327	MGI:1915325	-	-	yes	no	no	no	NA
LURAP1L	HGNC:31452	MGI:106510	-	-	yes	no	no	no	NA
LUZP1	HGNC:14985	MGI:107629	ORPHA:1606	1P36 Deletion Syndrome	no	no	no	no	NA
LUZP2	HGNC:23206	MGI:1889615	-	-	no	no	no	no	NA
LVRN	HGNC:26904	MGI:1921824	-	-	no	no	no	no	NA
LXN	HGNC:13347	MGI:107633	-	-	no	no	no	no	NA
LY6D	HGNC:13348	MGI:96881	-	-	yes	no	no	no	NA
LY6E	HGNC:6727	MGI:106651	-	-	yes	no	no	no	NA
LY6G5B	HGNC:13931	MGI:2385809	-	-	yes	no	no	no	NA
LY6G5C	HGNC:13932	MGI:2148974	-	-	no	no	no	no	NA
LY6G6C	HGNC:13936	MGI:2148930	-	-	no	no	no	no	NA
LY6G6D	HGNC:13935	MGI:2148931	-	-	yes	no	no	no	NA
LY6G6E	HGNC:13934	MGI:1917524	-	-	no	no	no	no	NA
LY6G6F	HGNC:13933	MGI:3616082	-	-	yes	no	no	no	NA
LY6H	HGNC:6728	MGI:1346030	-	-	no	no	no	no	NA
LY6K	HGNC:24225	MGI:1923736	-	-	no	no	no	no	NA
LY6L	HGNC:52284	MGI:5313101	-	-	no	no	no	no	NA
LY75	HGNC:6729	MGI:106662	-	-	no	no	no	no	NA
LY86	HGNC:16837	MGI:1321404	-	-	yes	no	no	no	NA
LY9	HGNC:6730	MGI:96885	-	-	no	no	no	no	NA
LY96	HGNC:17156	MGI:1341909	-	-	no	no	no	no	NA
LYAR	HGNC:26021	MGI:107470	-	-	yes	no	no	no	NA
LYG1	HGNC:27014	MGI:1916791	-	-	no	no	no	no	NA
LYG2	HGNC:29615	MGI:2685622	-	-	no	no	no	no	NA
LYL1	HGNC:6734	MGI:96891	-	-	no	no	no	no	NA
LYN	HGNC:6735	MGI:96892	OMIM:620376	Autoinflammatory Disease, Systemic, With Vasculitis	yes	yes	no	no	NA
LYNX1	HGNC:29604	MGI:1345180	-	-	no	no	no	no	NA
LYPD1	HGNC:28431	MGI:1919835	-	-	no	no	no	no	NA
LYPD2	HGNC:25215	MGI:1915561	-	-	yes	no	no	no	NA
LYPD3	HGNC:24880	MGI:1919684	-	-	yes	no	no	no	NA
LYPD4	HGNC:28659	MGI:2687054	-	-	no	no	no	no	NA
LYPD5	HGNC:26397	MGI:1924192	-	-	yes	no	no	no	NA
LYPD6	HGNC:28751	MGI:2443848	-	-	yes	no	no	no	NA
LYPD6B	HGNC:27018	MGI:1919147	-	-	yes	no	no	no	NA
LYPD8	HGNC:44208	MGI:1917413	-	-	no	no	no	no	NA
LYPLA1	HGNC:6737	MGI:1344588	-	-	yes	no	no	no	NA
LYPLA2	HGNC:6738	MGI:1347000	-	-	no	no	no	no	NA
LYPLAL1	HGNC:20440	MGI:2385115	-	-	yes	no	no	no	NA
LYRM1	HGNC:25074	MGI:1921169	-	-	no	no	no	no	NA
LYRM2	HGNC:25229	MGI:1917573	-	-	no	no	no	no	NA
LYRM4	HGNC:21365	MGI:2683538	OMIM:615595|ORPHA:397593	Combined Oxidative Phosphorylation Deficiency 19|Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency	no	no	no	no	NA
LYRM7	HGNC:28072	MGI:1922780	OMIM:615838|ORPHA:1460	Mitochondrial Complex Iii Deficiency, Nuclear Type 8|Isolated Complex Iii Deficiency	yes	no	yes	no	NA
LYRM9	HGNC:27314	MGI:1913524	-	-	yes	no	no	no	NA
LYSET	HGNC:20218	MGI:2443862	OMIM:619345	Dysostosis Multiplex, Ain-Naz Type	no	no	no	no	NA
LYSMD1	HGNC:32070	MGI:1919409	-	-	yes	no	no	no	NA
LYSMD2	HGNC:28571	MGI:1917332	-	-	no	no	no	no	NA
LYSMD3	HGNC:26969	MGI:1915906	-	-	no	no	no	no	NA
LYSMD4	HGNC:26571	MGI:1922349	-	-	yes	no	no	no	NA
LYST	HGNC:1968	MGI:107448	OMIM:214500|ORPHA:167|ORPHA:352723	Chediak-Higashi Syndrome|Chédiak-Higashi Syndrome|Attenuated Chédiak-Higashi Syndrome	yes	yes	yes	yes	51.96
LYVE1	HGNC:14687	MGI:2136348	-	-	no	no	no	no	NA
LYZL4	HGNC:28387	MGI:1916282	-	-	no	no	no	no	NA
LYZL6	HGNC:29614	MGI:1916694	-	-	no	no	no	no	NA
LZIC	HGNC:17497	MGI:1916401	-	-	no	no	no	no	NA
LZTFL1	HGNC:6741	MGI:1934860	OMIM:615994|ORPHA:110	Bardet-Biedl Syndrome 17|Bardet-Biedl Syndrome	no	no	no	no	NA
LZTR1	HGNC:6742	MGI:1914113	OMIM:616564|OMIM:605275|OMIM:615670|ORPHA:648|ORPHA:251576|ORPHA:251579|ORPHA:93921	Noonan Syndrome 10|Noonan Syndrome 2|Schwannomatosis 2|Noonan Syndrome|Gliosarcoma|Giant Cell Glioblastoma|Full Schwannomatosis	yes	yes	yes	yes	14.26
LZTS1	HGNC:13861	MGI:2684762	OMIM:133239	Esophageal Cancer	yes	no	yes	no	NA
LZTS2	HGNC:29381	MGI:2385095	-	-	no	no	no	no	NA
LZTS3	HGNC:30139	MGI:2656976	-	-	no	no	no	no	NA
M1AP	HGNC:25183	MGI:1315200	OMIM:619108	Spermatogenic Failure 48	no	no	no	no	NA
M6PR	HGNC:6752	MGI:96904	-	-	yes	no	no	no	NA
MAB21L1	HGNC:6757	MGI:1333773	OMIM:618479	Cerebellar, Ocular, Craniofacial, And Genital Syndrome	no	no	no	no	NA
MAB21L2	HGNC:6758	MGI:1346022	OMIM:615877|ORPHA:424099	Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome|Colobomatous Microphthalmia-Rhizomelic Dysplasia Syndrome	yes	yes	yes	yes	46.655
MAB21L3	HGNC:26787	MGI:2446273	-	-	no	no	no	no	NA
MAB21L4	HGNC:26216	MGI:1919124	-	-	yes	no	no	no	NA
MACC1	HGNC:30215	MGI:2685113	-	-	no	no	no	no	NA
MACF1	HGNC:13664	MGI:108559	OMIM:618325|ORPHA:572013	Lissencephaly 9 With Complex Brainstem Malformation|Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	no	no	no	no	NA
MACIR	HGNC:25052	MGI:1277184	-	-	yes	no	no	no	NA
MACO1	HGNC:25572	MGI:1913396	-	-	yes	no	no	no	NA
MACROD1	HGNC:29598	MGI:2147583	-	-	yes	no	no	no	NA
MACROD2	HGNC:16126	MGI:1920149	-	-	yes	no	no	no	NA
MACROH2A1	HGNC:4740	MGI:1349392	ORPHA:1275	Brachydactyly-Elbow Wrist Dysplasia Syndrome	no	no	no	no	NA
MACROH2A2	HGNC:14453	MGI:3037658	-	-	no	no	no	no	NA
MAD1L1	HGNC:6762	MGI:1341857	OMIM:620189|OMIM:176807	Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition|Prostate Cancer	no	no	no	no	NA
MAD2L1	HGNC:6763	MGI:1860374	-	-	no	no	no	no	NA
MAD2L1BP	HGNC:21059	MGI:1913841	-	-	no	no	no	no	NA
MAD2L2	HGNC:6764	MGI:1919140	OMIM:617243|ORPHA:84	Fanconi Anemia, Complementation Group V|Fanconi Anemia	yes	yes	yes	yes	20.96
MADCAM1	HGNC:6765	MGI:103579	-	-	no	no	no	no	NA
MADD	HGNC:6766	MGI:2444672	OMIM:619004|OMIM:619005|ORPHA:528084	Deeah Syndrome|Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia|Non-Specific Syndromic Intellectual Disability	no	no	no	no	NA
MAEA	HGNC:13731	MGI:1891748	-	-	yes	no	no	no	NA
MAEL	HGNC:25929	MGI:2138453	-	-	no	no	no	no	NA
MAF	HGNC:6776	MGI:96909	OMIM:601088|OMIM:610202|ORPHA:1377|ORPHA:1272|ORPHA:98989|ORPHA:98984	Ayme-Gripp Syndrome|Cataract 21, Multiple Types|Cataract-Microcornea Syndrome|Aymé-Gripp Syndrome|Cerulean Cataract|Pulverulent Cataract	yes	yes	yes	yes	30.43
MAF1	HGNC:24966	MGI:1916127	-	-	no	no	no	no	NA
MAFA	HGNC:23145	MGI:2673307	OMIM:147630	Insulinomatosis And Diabetes Mellitus	no	no	no	no	NA
MAFB	HGNC:6408	MGI:104555	OMIM:617041|OMIM:166300|ORPHA:233|ORPHA:2774|ORPHA:529574	Duane Retraction Syndrome 3 With Or Without Deafness|Multicentric Carpotarsal Osteolysis Syndrome|Duane Retraction Syndrome|Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy|Duane Retraction Syndrome With Congenital Deafness	no	no	no	no	NA
MAFF	HGNC:6780	MGI:96910	-	-	no	no	no	no	NA
MAFG	HGNC:6781	MGI:96911	-	-	no	no	no	no	NA
MAFK	HGNC:6782	MGI:99951	-	-	no	no	no	no	NA
MAG	HGNC:6783	MGI:96912	OMIM:616680|ORPHA:459056	Spastic Paraplegia 75, Autosomal Recessive|Autosomal Recessive Spastic Paraplegia Type 75	yes	yes	yes	yes	31.22
MAGEB16	HGNC:21188	MGI:1919217	-	-	no	no	no	no	NA
MAGEB18	HGNC:28515	MGI:3045344	-	-	no	no	no	no	NA
MAGEB2	HGNC:6809	MGI:2148568	-	-	no	no	no	no	NA
MAGED1	HGNC:6813	MGI:1930187	-	-	yes	no	no	no	NA
MAGED2	HGNC:16353	MGI:1933391	OMIM:300971|ORPHA:570371	Bartter Syndrome, Type 5, Antenatal, Transient|Bartter Syndrome Type 5	no	no	no	no	NA
MAGEE1	HGNC:24934	MGI:2148149	-	-	no	no	no	no	NA
MAGEE2	HGNC:24935	MGI:2148316	-	-	yes	no	no	no	NA
MAGEH1	HGNC:24092	MGI:1922875	-	-	yes	no	no	no	NA
MAGEL2	HGNC:6814	MGI:1351648	OMIM:615547|ORPHA:177901|ORPHA:177904|ORPHA:177910|ORPHA:398069|ORPHA:98754	Schaaf-Yang Syndrome|Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1|Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2|Prader-Willi Syndrome Due To Imprinting Mutation|Magel2-Related Prader-Willi-Like Syndrome|Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	yes	yes	yes	yes	28.41
MAGI1	HGNC:946	MGI:1203522	-	-	no	no	no	no	NA
MAGI2	HGNC:18957	MGI:1354953	OMIM:617609|ORPHA:656	Nephrotic Syndrome, Type 15|Genetic Steroid-Resistant Nephrotic Syndrome	yes	yes	yes	no	NA
MAGI3	HGNC:29647	MGI:1923484	-	-	yes	no	no	no	NA
MAGIX	HGNC:30006	MGI:1859644	-	-	yes	no	no	no	NA
MAGOH	HGNC:6815	MGI:1330312	-	-	no	no	no	no	NA
MAGOHB	HGNC:25504	MGI:1913691	-	-	no	no	no	no	NA
MAGT1	HGNC:28880	MGI:1914325	OMIM:301031|OMIM:300853|ORPHA:317476	Congenital Disorder Of Glycosylation, Type Icc|Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia|X-Linked Immunodeficiency With Magnesium Defect, Epstein-Barr Virus Infection And Neoplasia	yes	yes	yes	no	NA
MAIP1	HGNC:26198	MGI:1915365	-	-	no	no	no	no	NA
MAJIN	HGNC:27441	MGI:1923913	-	-	no	no	no	no	NA
MAK	HGNC:6816	MGI:96913	OMIM:614181|ORPHA:791	Retinitis Pigmentosa 62|Retinitis Pigmentosa	no	no	no	no	NA
MAK16	HGNC:13703	MGI:1915170	-	-	yes	no	no	no	NA
MAL	HGNC:6817	MGI:892970	ORPHA:280270	Pelizaeus-Merzbacher-Like Disease	no	no	no	no	NA
MAL2	HGNC:13634	MGI:2146021	-	-	no	no	no	no	NA
MALL	HGNC:6818	MGI:2385152	-	-	no	no	no	no	NA
MALRD1	HGNC:24331	MGI:1928271	-	-	yes	no	no	no	NA
MALSU1	HGNC:21721	MGI:1922843	-	-	no	no	no	no	NA
MALT1	HGNC:6819	MGI:2445027	OMIM:615468|ORPHA:397964|ORPHA:52417	Immunodeficiency 12|Combined Immunodeficiency Due To Malt1 Deficiency|Malt Lymphoma	no	no	no	no	NA
MAMDC2	HGNC:23673	MGI:1918988	-	-	yes	no	no	no	NA
MAMDC4	HGNC:24083	MGI:2685841	-	-	yes	no	no	no	NA
MAML1	HGNC:13632	MGI:1890504	-	-	no	no	no	no	NA
MAML2	HGNC:16259	MGI:2389460	-	-	yes	no	no	no	NA
MAML3	HGNC:16272	MGI:2389461	-	-	no	no	no	no	NA
MAMLD1	HGNC:2568	MGI:3045303	OMIM:300758|ORPHA:456328|ORPHA:95706	Hypospadias 2, X-Linked|X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome|Non-Syndromic Posterior Hypospadias	yes	yes	yes	yes	20.33
MAMSTR	HGNC:26689	MGI:1921740	-	-	yes	no	no	no	NA
MAN1A1	HGNC:6821	MGI:104677	-	-	no	no	no	no	NA
MAN1A2	HGNC:6822	MGI:104676	-	-	no	no	no	no	NA
MAN1B1	HGNC:6823	MGI:2684954	OMIM:614202|ORPHA:397941|ORPHA:88616	Rafiq Syndrome|Man1B1-Cdg|Autosomal Recessive Non-Syndromic Intellectual Disability	yes	yes	yes	no	NA
MAN1C1	HGNC:19080	MGI:2446214	-	-	no	no	no	no	NA
MAN2A1	HGNC:6824	MGI:104669	-	-	yes	no	no	no	NA
MAN2A2	HGNC:6825	MGI:2150656	-	-	no	no	no	no	NA
MAN2B1	HGNC:6826	MGI:107286	OMIM:248500|ORPHA:309282|ORPHA:309288	Mannosidosis, Alpha B, Lysosomal|Alpha-Mannosidosis, Infantile Form|Alpha-Mannosidosis, Adult Form	yes	yes	yes	yes	24.435
MAN2B2	HGNC:29623	MGI:1195262	-	-	yes	no	no	no	NA
MAN2C1	HGNC:6827	MGI:1920994	OMIM:619775|ORPHA:528084	Congenital Disorder Of Deglycosylation 2|Non-Specific Syndromic Intellectual Disability	no	no	no	no	NA
MANBA	HGNC:6831	MGI:88175	OMIM:248510|ORPHA:118	Mannosidosis, Beta A, Lysosomal|Beta-Mannosidosis	no	no	no	no	NA
MANBAL	HGNC:15799	MGI:1916411	-	-	no	no	no	no	NA
MANEA	HGNC:21072	MGI:2444484	-	-	no	no	no	no	NA
MANEAL	HGNC:26452	MGI:2684896	-	-	yes	no	no	no	NA
MANF	HGNC:15461	MGI:1922090	-	-	no	no	no	no	NA
MANSC1	HGNC:25505	MGI:1914979	-	-	no	no	no	no	NA
MANSC4	HGNC:40023	MGI:3645619	-	-	yes	no	no	no	NA
MAOA	HGNC:6833	MGI:96915	OMIM:300615|ORPHA:3057	Brunner Syndrome|Monoamine Oxidase A Deficiency	no	no	no	no	NA
MAOB	HGNC:6834	MGI:96916	-	-	yes	no	no	no	NA
MAP10	HGNC:29265	MGI:1921643	-	-	no	no	no	no	NA
MAP1A	HGNC:6835	MGI:1306776	-	-	no	no	no	no	NA
MAP1B	HGNC:6836	MGI:1306778	OMIM:619808|OMIM:618918|ORPHA:90635|ORPHA:98892	Deafness, Autosomal Dominant 83|Periventricular Nodular Heterotopia 9|Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna|Periventricular Nodular Heterotopia	no	no	no	no	NA
MAP1LC3A	HGNC:6838	MGI:1915661	-	-	no	no	no	no	NA
MAP1LC3B	HGNC:13352	MGI:1914693	-	-	no	no	no	no	NA
MAP1S	HGNC:15715	MGI:2443304	-	-	no	no	no	no	NA
MAP2	HGNC:6839	MGI:97175	-	-	no	no	no	no	NA
MAP2K1	HGNC:6840	MGI:1346866	OMIM:615279|OMIM:155950|ORPHA:1340|ORPHA:389	Cardiofaciocutaneous Syndrome 3|Melorheostosis, Isolated|Cardiofaciocutaneous Syndrome|Langerhans Cell Histiocytosis	yes	yes	yes	no	NA
MAP2K2	HGNC:6842	MGI:1346867	OMIM:615280|ORPHA:638|ORPHA:1340	Cardiofaciocutaneous Syndrome 4|Neurofibromatosis-Noonan Syndrome|Cardiofaciocutaneous Syndrome	yes	yes	yes	yes	27.445
MAP2K3	HGNC:6843	MGI:1346868	-	-	no	no	no	no	NA
MAP2K4	HGNC:6844	MGI:1346869	-	-	no	no	no	no	NA
MAP2K5	HGNC:6845	MGI:1346345	-	-	no	no	no	no	NA
MAP2K6	HGNC:6846	MGI:1346870	-	-	no	no	no	no	NA
MAP2K7	HGNC:6847	MGI:1346871	-	-	yes	no	no	no	NA
MAP3K1	HGNC:6848	MGI:1346872	OMIM:613762|ORPHA:242|ORPHA:251510	46,Xy Sex Reversal 6|46,Xy Complete Gonadal Dysgenesis|46,Xy Partial Gonadal Dysgenesis	yes	yes	yes	yes	22.095
MAP3K10	HGNC:6849	MGI:1346879	-	-	yes	no	no	no	NA
MAP3K11	HGNC:6850	MGI:1346880	-	-	no	no	no	no	NA
MAP3K12	HGNC:6851	MGI:1346881	-	-	yes	no	no	no	NA
MAP3K13	HGNC:6852	MGI:2444243	-	-	yes	no	no	no	NA
MAP3K14	HGNC:6853	MGI:1858204	OMIM:620449|ORPHA:447731	Immunodeficiency 112|Nik Deficiency	no	no	no	no	NA
MAP3K15	HGNC:31689	MGI:2448588	-	-	no	no	no	no	NA
MAP3K19	HGNC:26249	MGI:1203481	-	-	no	no	no	no	NA
MAP3K2	HGNC:6854	MGI:1346873	-	-	no	no	no	no	NA
MAP3K20	HGNC:17797	MGI:2443258	OMIM:617760|OMIM:616890|ORPHA:2020|ORPHA:488232	Myopathy, Centronuclear, 6, With Fiber-Type Disproportion|Split-Foot Malformation With Mesoaxial Polydactyly|Congenital Fiber-Type Disproportion Myopathy|Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	yes	no	yes	no	NA
MAP3K21	HGNC:29798	MGI:2385307	-	-	no	no	no	no	NA
MAP3K3	HGNC:6855	MGI:1346874	-	-	no	no	no	no	NA
MAP3K4	HGNC:6856	MGI:1346875	-	-	no	no	no	no	NA
MAP3K5	HGNC:6857	MGI:1346876	-	-	no	no	no	no	NA
MAP3K6	HGNC:6858	MGI:1855691	ORPHA:26106	Hereditary Diffuse Gastric Cancer	no	no	no	no	NA
MAP3K7	HGNC:6859	MGI:1346877	OMIM:157800|OMIM:617137|ORPHA:1826|ORPHA:3238	Cardiospondylocarpofacial Syndrome|Frontometaphyseal Dysplasia 2|Frontometaphyseal Dysplasia	yes	yes	yes	yes	28.4
MAP3K7CL	HGNC:16457	MGI:2446584	-	-	no	no	no	no	NA
MAP3K8	HGNC:6860	MGI:1346878	OMIM:211980	Lung Cancer	yes	yes	yes	no	NA
MAP3K9	HGNC:6861	MGI:2449952	-	-	yes	no	no	no	NA
MAP4	HGNC:6862	MGI:97178	-	-	yes	no	no	no	NA
MAP4K1	HGNC:6863	MGI:1346882	-	-	no	no	no	no	NA
MAP4K2	HGNC:6864	MGI:1346883	-	-	no	no	no	no	NA
MAP4K3	HGNC:6865	MGI:2154405	-	-	no	no	no	no	NA
MAP4K4	HGNC:6866	MGI:1349394	-	-	no	no	no	no	NA
MAP4K5	HGNC:6867	MGI:1925503	-	-	yes	no	no	no	NA
MAP6	HGNC:6868	MGI:1201690	-	-	no	no	no	no	NA
MAP6D1	HGNC:25753	MGI:3607784	-	-	no	no	no	no	NA
MAP7	HGNC:6869	MGI:1328328	-	-	no	no	no	no	NA
MAP7D1	HGNC:25514	MGI:2384297	-	-	yes	no	no	no	NA
MAP7D2	HGNC:25899	MGI:1917474	-	-	no	no	no	no	NA
MAP7D3	HGNC:25742	MGI:2445051	-	-	yes	no	no	no	NA
MAP9	HGNC:26118	MGI:2442208	-	-	no	no	no	no	NA
MAPK1	HGNC:6871	MGI:1346858	OMIM:619087|ORPHA:261330	Noonan Syndrome 13|Distal 22Q11.2 Microdeletion Syndrome	yes	yes	yes	no	NA
MAPK10	HGNC:6872	MGI:1346863	ORPHA:2382	Lennox-Gastaut Syndrome	yes	no	yes	no	NA
MAPK11	HGNC:6873	MGI:1338024	-	-	yes	no	no	no	NA
MAPK12	HGNC:6874	MGI:1353438	-	-	no	no	no	no	NA
MAPK13	HGNC:6875	MGI:1346864	-	-	yes	no	no	no	NA
MAPK14	HGNC:6876	MGI:1346865	-	-	no	no	no	no	NA
MAPK15	HGNC:24667	MGI:2652894	-	-	yes	no	no	no	NA
MAPK1IP1L	HGNC:19840	MGI:2444022	-	-	no	no	no	no	NA
MAPK3	HGNC:6877	MGI:1346859	-	-	no	no	no	no	NA
MAPK4	HGNC:6878	MGI:2444559	-	-	no	no	no	no	NA
MAPK6	HGNC:6879	MGI:1354946	-	-	yes	no	no	no	NA
MAPK7	HGNC:6880	MGI:1346347	-	-	no	no	no	no	NA
MAPK8	HGNC:6881	MGI:1346861	-	-	no	no	no	no	NA
MAPK8IP1	HGNC:6882	MGI:1309464	OMIM:125853	Type 2 Diabetes Mellitus	no	no	no	no	NA
MAPK8IP2	HGNC:6883	MGI:1926555	-	-	no	no	no	no	NA
MAPK8IP3	HGNC:6884	MGI:1353598	OMIM:618443|ORPHA:528084	Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities|Non-Specific Syndromic Intellectual Disability	no	no	no	no	NA
MAPK9	HGNC:6886	MGI:1346862	-	-	no	no	no	no	NA
MAPKAP1	HGNC:18752	MGI:2444554	-	-	yes	no	no	no	NA
MAPKAPK2	HGNC:6887	MGI:109298	-	-	yes	no	no	no	NA
MAPKAPK3	HGNC:6888	MGI:2143163	OMIM:617111|ORPHA:466718	Macular Dystrophy, Patterned, 3|Martinique Crinkled Retinal Pigment Epitheliopathy	yes	yes	yes	no	NA
MAPKAPK5	HGNC:6889	MGI:1333110	OMIM:619869	Neurocardiofaciodigital Syndrome	yes	yes	yes	no	NA
MAPKBP1	HGNC:29536	MGI:1347004	OMIM:617271|ORPHA:93592|ORPHA:93589	Nephronophthisis 20|Juvenile Nephronophthisis|Late-Onset Nephronophthisis	yes	yes	yes	yes	42.975
MAPRE1	HGNC:6890	MGI:891995	-	-	no	no	no	no	NA
MAPRE2	HGNC:6891	MGI:106271	OMIM:616734|ORPHA:2505	Skin Creases, Congenital Symmetric Circumferential, 2|Multiple Benign Circumferential Skin Creases On Limbs	no	no	no	no	NA
MAPRE3	HGNC:6892	MGI:2140967	-	-	yes	no	no	no	NA
MAPT	HGNC:6893	MGI:97180	OMIM:600274|OMIM:172700|OMIM:260540|OMIM:601104|OMIM:168600|ORPHA:275864|ORPHA:240071|ORPHA:240112|ORPHA:240103|ORPHA:240094|ORPHA:240085|ORPHA:100069|ORPHA:100070	Frontotemporal Dementia|Pick Disease Of Brain|Parkinson-Dementia Syndrome|Supranuclear Palsy, Progressive, 1|Parkinson Disease, Late-Onset|Behavioral Variant Of Frontotemporal Dementia|Classic Progressive Supranuclear Palsy Syndrome|Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome|Progressive Supranuclear Palsy-Corticobasal Syndrome|Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome|Progressive Supranuclear Palsy-Parkinsonism Syndrome|Semantic Dementia|Progressive Non-Fluent Aphasia	yes	yes	yes	yes	46.465
MARCHF1	HGNC:26077	MGI:1920175	-	-	no	no	no	no	NA
MARCHF10	HGNC:26655	MGI:2443469	-	-	no	no	no	no	NA
MARCHF11	HGNC:33609	MGI:3608327	-	-	no	no	no	no	NA
MARCHF2	HGNC:28038	MGI:1925915	-	-	yes	no	no	no	NA
MARCHF3	HGNC:28728	MGI:2443667	-	-	yes	no	no	no	NA
MARCHF4	HGNC:29269	MGI:2683550	-	-	no	no	no	no	NA
MARCHF5	HGNC:26025	MGI:1915207	-	-	yes	no	no	no	NA
MARCHF6	HGNC:30550	MGI:2442773	OMIM:613608|ORPHA:86814	Epilepsy, Familial Adult Myoclonic, 3|Benign Adult Familial Myoclonic Epilepsy	yes	yes	yes	no	NA
MARCHF7	HGNC:17393	MGI:1931053	-	-	yes	no	no	no	NA
MARCHF8	HGNC:23356	MGI:1919029	-	-	yes	no	no	no	NA
MARCHF9	HGNC:25139	MGI:2446144	-	-	yes	no	no	no	NA
MARCKS	HGNC:6759	MGI:96907	-	-	yes	no	no	no	NA
MARCKSL1	HGNC:7142	MGI:97143	-	-	no	no	no	no	NA
MARCO	HGNC:6895	MGI:1309998	-	-	yes	no	no	no	NA
MARF1	HGNC:29562	MGI:2444505	-	-	yes	no	no	no	NA
MARK1	HGNC:6896	MGI:2664902	-	-	no	no	no	no	NA
MARK2	HGNC:3332	MGI:99638	-	-	no	no	no	no	NA
MARK3	HGNC:6897	MGI:1341865	OMIM:618283	Visual Impairment And Progressive Phthisis Bulbi	no	no	no	no	NA
MARK4	HGNC:13538	MGI:1920955	-	-	yes	no	no	no	NA
MARS1	HGNC:6898	MGI:1345633	OMIM:619692|OMIM:616280|OMIM:615486|OMIM:620323|ORPHA:401835|ORPHA:397735|ORPHA:440427	Trichothiodystrophy 9, Nonphotosensitive|Charcot-Marie-Tooth Disease, Axonal, Type 2U|Interstitial Lung And Liver Disease|Spastic Paraplegia 70, Autosomal Recessive|Autosomal Recessive Spastic Paraplegia Type 70|Autosomal Dominant Charcot-Marie-Tooth Disease Type 2U|Severe Early-Onset Pulmonary Alveolar Proteinosis Due To Mars Deficiency	no	no	no	no	NA
MARS2	HGNC:25133	MGI:2444136	OMIM:616430|OMIM:611390|ORPHA:314603|ORPHA:447954	Combined Oxidative Phosphorylation Deficiency 25|Spastic Ataxia 3, Autosomal Recessive|Autosomal Recessive Spastic Ataxia With Leukoencephalopathy|Combined Oxidative Phosphorylation Defect Type 25	yes	yes	yes	yes	24.7
MARVELD1	HGNC:28674	MGI:2147570	-	-	no	no	no	no	NA
MARVELD2	HGNC:26401	MGI:2446166	OMIM:610153|ORPHA:90636	Deafness, Autosomal Recessive 49|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	yes	yes	yes	yes	33.96
MARVELD3	HGNC:30525	MGI:1920858	-	-	yes	no	no	no	NA
MAS1	HGNC:6899	MGI:96918	-	-	yes	no	no	no	NA
MASP1	HGNC:6901	MGI:88492	OMIM:257920|ORPHA:293843	3Mc Syndrome 1|3Mc Syndrome	yes	yes	yes	yes	9.73
MASP2	HGNC:6902	MGI:1330832	OMIM:613791|ORPHA:331187	Masp2 Deficiency|Immunodeficiency Due To Masp-2 Deficiency	no	no	no	no	NA
MAST1	HGNC:19034	MGI:1861901	OMIM:618273	Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	yes	yes	yes	no	NA
MAST2	HGNC:19035	MGI:894676	-	-	yes	no	no	no	NA
MAST3	HGNC:19036	MGI:2683541	OMIM:620115	Developmental And Epileptic Encephalopathy 108	yes	yes	yes	no	NA
MAST4	HGNC:19037	MGI:1918885	-	-	no	no	no	no	NA
MASTL	HGNC:19042	MGI:1914371	ORPHA:168629	Autosomal Thrombocytopenia With Normal Platelets	no	no	no	no	NA
MAT1A	HGNC:6903	MGI:88017	OMIM:250850|ORPHA:168598	Methionine Adenosyltransferase I/Iii Deficiency	no	no	no	no	NA
MAT2A	HGNC:6904	MGI:2443731	ORPHA:91387	Familial Thoracic Aortic Aneurysm And Aortic Dissection	yes	yes	yes	no	NA
MAT2B	HGNC:6905	MGI:1913667	-	-	no	no	no	no	NA
MATCAP1	HGNC:34408	MGI:1921606	-	-	no	no	no	no	NA
MATCAP2	HGNC:22206	MGI:1915533	-	-	yes	no	no	no	NA
MATK	HGNC:6906	MGI:99259	-	-	no	no	no	no	NA
MATN1	HGNC:6907	MGI:106591	-	-	yes	no	no	no	NA
MATN2	HGNC:6908	MGI:109613	-	-	no	no	no	no	NA
MATN3	HGNC:6909	MGI:1328350	OMIM:607078|OMIM:608728|OMIM:140600|ORPHA:156728|ORPHA:93311	Epiphyseal Dysplasia, Multiple, 5|Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type|Osteoarthritis Susceptibility 2|Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type|Multiple Epiphyseal Dysplasia Type 5	yes	no	yes	no	NA
MATN4	HGNC:6910	MGI:1328314	-	-	yes	no	no	no	NA
MATR3	HGNC:6912	MGI:1298379	OMIM:606070|ORPHA:803|ORPHA:600	Amyotrophic Lateral Sclerosis 21|Amyotrophic Lateral Sclerosis|Vocal Cord And Pharyngeal Distal Myopathy	no	no	no	no	NA
MAU2	HGNC:29140	MGI:1921799	-	-	yes	no	no	no	NA
MAVS	HGNC:29233	MGI:2444773	-	-	yes	no	no	no	NA
MAX	HGNC:6913	MGI:96921	OMIM:171300|ORPHA:29072	Pheochromocytoma|Hereditary Pheochromocytoma-Paraganglioma	no	no	no	no	NA
MAZ	HGNC:6914	MGI:1338823	-	-	yes	no	no	no	NA
MB	HGNC:6915	MGI:96922	OMIM:620286	Myopathy, Sarcoplasmic Body	no	no	no	no	NA
MB21D2	HGNC:30438	MGI:1917028	-	-	yes	no	no	no	NA
MBD1	HGNC:6916	MGI:1333811	-	-	yes	no	no	no	NA
MBD2	HGNC:6917	MGI:1333813	-	-	yes	no	no	no	NA
MBD3	HGNC:6918	MGI:1333812	-	-	no	no	no	no	NA
MBD3L1	HGNC:15774	MGI:1920753	-	-	no	no	no	no	NA
MBD4	HGNC:6919	MGI:1333850	OMIM:619975|OMIM:606660	Tumor Predisposition Syndrome 2|Melanoma, Uveal, Susceptibility To, 1	no	no	no	no	NA
MBD5	HGNC:20444	MGI:2138934	OMIM:156200|ORPHA:178469|ORPHA:228402	Intellectual Developmental Disorder, Autosomal Dominant 1|Autosomal Dominant Non-Syndromic Intellectual Disability|2Q23.1 Microdeletion Syndrome	yes	yes	yes	yes	40.135
MBD6	HGNC:20445	MGI:106378	-	-	yes	no	no	no	NA
MBIP	HGNC:20427	MGI:1918320	-	-	yes	no	no	no	NA
MBL2	HGNC:6922	MGI:96924	OMIM:614372	Mannose-Binding Lectin Deficiency	yes	no	yes	no	NA
MBLAC1	HGNC:22180	MGI:2679717	-	-	no	no	no	no	NA
MBLAC2	HGNC:33711	MGI:1920102	-	-	no	no	no	no	NA
MBNL1	HGNC:6923	MGI:1928482	-	-	yes	no	no	no	NA
MBNL2	HGNC:16746	MGI:2145597	-	-	no	no	no	no	NA
MBNL3	HGNC:20564	MGI:2444912	-	-	no	no	no	no	NA
MBOAT1	HGNC:21579	MGI:2387184	-	-	yes	no	no	no	NA
MBOAT2	HGNC:25193	MGI:1914466	-	-	yes	no	no	no	NA
MBOAT4	HGNC:32311	MGI:2685017	-	-	yes	no	no	no	NA
MBOAT7	HGNC:15505	MGI:1924832	OMIM:617188|ORPHA:88616	Intellectual Developmental Disorder, Autosomal Recessive 57|Autosomal Recessive Non-Syndromic Intellectual Disability	yes	yes	yes	no	NA
MBP	HGNC:6925	MGI:96925	-	-	no	no	no	no	NA
MBTD1	HGNC:19866	MGI:2143977	-	-	yes	no	no	no	NA
MBTPS1	HGNC:15456	MGI:1927235	OMIM:618392	Spondyloepiphyseal Dysplasia, Kondo-Fu Type	no	no	no	no	NA
MBTPS2	HGNC:15455	MGI:2444506	OMIM:300918|OMIM:308205|OMIM:308800|OMIM:301014|ORPHA:2340|ORPHA:2273|ORPHA:216796|ORPHA:659|ORPHA:85284	Olmsted Syndrome, X-Linked|Ifap Syndrome 1, With Or Without Bresheck Syndrome|Keratosis Follicularis Spinulosa Decalvans, X-Linked|Osteogenesis Imperfecta, Type Xix|Keratosis Follicularis Spinulosa Decalvans|Ichthyosis Follicularis-Alopecia-Photophobia Syndrome|Osteogenesis Imperfecta Type 1|Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques|Bresek Syndrome	no	no	no	no	NA
MC1R	HGNC:6929	MGI:99456	OMIM:203200|OMIM:613098|OMIM:266300|OMIM:613099|ORPHA:626|ORPHA:618|ORPHA:79432	Albinism, Oculocutaneous, Type Ii|Increased Analgesia From Kappa-Opioid Receptor Agonist, Female-Specific|Skin/Hair/Eye Pigmentation, Variation In, 2|Melanoma, Cutaneous Malignant, Susceptibility To, 5|Large Congenital Melanocytic Nevus|Familial Melanoma|Oculocutaneous Albinism Type 2	yes	yes	yes	yes	57.395
MC2R	HGNC:6930	MGI:96928	OMIM:202200|ORPHA:361	Glucocorticoid Deficiency 1|Familial Glucocorticoid Deficiency	no	no	no	no	NA
MC3R	HGNC:6931	MGI:96929	OMIM:602025|ORPHA:217031	Body Mass Index Quantitative Trait Locus 9|Non Rare In Europe: Obesity Due To Mc3R Deficiency	yes	yes	no	no	NA
MC4R	HGNC:6932	MGI:99457	OMIM:618406|ORPHA:71529	Body Mass Index Quantitative Trait Locus 20|Obesity Due To Melanocortin 4 Receptor Deficiency	no	no	no	no	NA
MC5R	HGNC:6933	MGI:99420	-	-	yes	no	no	no	NA
MCAM	HGNC:6934	MGI:1933966	-	-	yes	no	no	no	NA
MCAT	HGNC:29622	MGI:2388651	ORPHA:98676	Autosomal Recessive Isolated Optic Atrophy	no	no	no	no	NA
MCC	HGNC:6935	MGI:96930	OMIM:114500	Colorectal Cancer	no	no	no	no	NA
MCCC1	HGNC:6936	MGI:1919289	OMIM:210200|ORPHA:6	3-Methylcrotonyl-Coa Carboxylase 1 Deficiency|3-Methylcrotonyl-Coa Carboxylase Deficiency	yes	yes	yes	no	NA
MCCC2	HGNC:6937	MGI:1925288	OMIM:210210|ORPHA:6	3-Methylcrotonyl-Coa Carboxylase 2 Deficiency|3-Methylcrotonyl-Coa Carboxylase Deficiency	yes	yes	yes	no	NA
MCEE	HGNC:16732	MGI:1920974	OMIM:251120|ORPHA:308425	Methylmalonyl-Coa Epimerase Deficiency|Methylmalonic Acidemia Due To Methylmalonyl-Coa Epimerase Deficiency	yes	no	yes	no	NA
MCEMP1	HGNC:27291	MGI:1916439	-	-	no	no	no	no	NA
MCF2	HGNC:6940	MGI:96932	-	-	no	no	no	no	NA
MCF2L	HGNC:14576	MGI:103263	-	-	yes	no	no	no	NA
MCFD2	HGNC:18451	MGI:2183439	OMIM:613625|ORPHA:35909	Factor V And Factor Viii, Combined Deficiency Of, 2|Combined Deficiency Of Factor V And Factor Viii	no	no	no	no	NA
MCHR1	HGNC:4479	MGI:2180756	-	-	yes	no	no	no	NA
MCIDAS	HGNC:40050	MGI:3648807	OMIM:618695|ORPHA:244	Ciliary Dyskinesia, Primary, 42|Primary Ciliary Dyskinesia	yes	yes	yes	yes	48.94
MCL1	HGNC:6943	MGI:101769	-	-	yes	no	no	no	NA
MCM10	HGNC:18043	MGI:1917274	OMIM:619313	Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	yes	yes	yes	yes	29.58
MCM2	HGNC:6944	MGI:105380	OMIM:616968|ORPHA:90635	Deafness, Autosomal Dominant 70|Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	no	no	no	no	NA
MCM3	HGNC:6945	MGI:101845	-	-	no	no	no	no	NA
MCM3AP	HGNC:6946	MGI:1930089	OMIM:618124	Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	no	no	no	no	NA
MCM4	HGNC:6947	MGI:103199	OMIM:609981|ORPHA:75391	Immunodeficiency 54|Primary Immunodeficiency With Natural-Killer Cell Deficiency And Adrenal Insufficiency	yes	yes	yes	no	NA
MCM5	HGNC:6948	MGI:103197	OMIM:617564	Meier-Gorlin Syndrome 8	no	no	no	no	NA
MCM6	HGNC:6949	MGI:1298227	OMIM:223100|ORPHA:319681	Lactose Intolerance, Adult Type|Non Rare In Europe: Lactase Non-Persistence In Adulthood	no	no	no	no	NA
MCM7	HGNC:6950	MGI:1298398	ORPHA:2512	Autosomal Recessive Primary Microcephaly	no	no	no	no	NA
MCM8	HGNC:16147	MGI:1913884	OMIM:612885|ORPHA:619	Premature Ovarian Failure 10|Non Rare In Europe: Primary Ovarian Failure	no	no	no	no	NA
MCM9	HGNC:21484	MGI:1918817	OMIM:616185|ORPHA:444048	Ovarian Dysgenesis 4|46,Xx Ovarian Dysgenesis-Short Stature Syndrome	no	no	no	no	NA
MCMBP	HGNC:25782	MGI:1920977	-	-	yes	no	no	no	NA
MCMDC2	HGNC:26368	MGI:3045334	-	-	no	no	no	no	NA
MCOLN1	HGNC:13356	MGI:1890498	OMIM:252650|ORPHA:578	Mucolipidosis Iv|Mucolipidosis Type Iv	no	no	no	no	NA
MCOLN2	HGNC:13357	MGI:1915529	-	-	no	no	no	no	NA
MCOLN3	HGNC:13358	MGI:1890500	-	-	no	no	no	no	NA
MCPH1	HGNC:6954	MGI:2443308	OMIM:251200|ORPHA:2512	Microcephaly 1, Primary, Autosomal Recessive|Autosomal Recessive Primary Microcephaly	yes	no	yes	no	NA
MCRIP1	HGNC:28007	MGI:2384752	-	-	no	no	no	no	NA
MCRIP2	HGNC:14142	MGI:1915491	-	-	no	no	no	no	NA
MCRS1	HGNC:6960	MGI:1858420	-	-	yes	no	no	no	NA
MCTP1	HGNC:26183	MGI:1926021	-	-	yes	no	no	no	NA
MCTP2	HGNC:25636	MGI:2685335	ORPHA:1596	Distal Deletion 15Q	yes	no	yes	no	NA
MCTS1	HGNC:23357	MGI:1916245	-	-	yes	no	no	no	NA
MCTS2	HGNC:49760	MGI:1913655	-	-	no	no	no	no	NA
MCU	HGNC:23526	MGI:3026965	-	-	yes	no	no	no	NA
MCUB	HGNC:26076	MGI:1914065	-	-	yes	no	no	no	NA
MCUR1	HGNC:21097	MGI:1923387	-	-	yes	no	no	no	NA
MDC1	HGNC:21163	MGI:3525201	-	-	yes	no	no	no	NA
MDFI	HGNC:6967	MGI:107687	-	-	no	no	no	no	NA
MDFIC	HGNC:28870	MGI:104611	OMIM:620014	Lymphatic Malformation 12	no	no	no	no	NA
MDGA1	HGNC:19267	MGI:1922012	-	-	no	no	no	no	NA
MDGA2	HGNC:19835	MGI:2444706	-	-	no	no	no	no	NA
MDH1	HGNC:6970	MGI:97051	OMIM:618959	Developmental And Epileptic Encephalopathy 88	yes	yes	yes	no	NA
MDH1B	HGNC:17836	MGI:1923918	-	-	yes	no	no	no	NA
MDH2	HGNC:6971	MGI:97050	OMIM:617339|ORPHA:29072	Developmental And Epileptic Encephalopathy 51|Hereditary Pheochromocytoma-Paraganglioma	yes	yes	yes	no	NA
MDK	HGNC:6972	MGI:96949	-	-	yes	no	no	no	NA
MDM1	HGNC:29917	MGI:96951	-	-	yes	no	no	no	NA
MDM2	HGNC:6973	MGI:96952	OMIM:618681|OMIM:614401|ORPHA:524|ORPHA:99971|ORPHA:99970	Lessel-Kubisch Syndrome|Accelerated Tumor Formation, Susceptibility To|Li-Fraumeni Syndrome|Well-Differentiated Liposarcoma|Dedifferentiated Liposarcoma	no	no	no	no	NA
MDM4	HGNC:6974	MGI:107934	OMIM:618849	Bone Marrow Failure Syndrome 6	no	no	no	no	NA
MDN1	HGNC:18302	MGI:1926159	-	-	yes	no	no	no	NA
MDP1	HGNC:28781	MGI:1915131	-	-	yes	no	no	no	NA
ME1	HGNC:6983	MGI:97043	-	-	yes	no	no	no	NA
ME2	HGNC:6984	MGI:2147351	-	-	yes	no	no	no	NA
ME3	HGNC:6985	MGI:1916679	-	-	yes	no	no	no	NA
MEA1	HGNC:6986	MGI:96957	-	-	no	no	no	no	NA
MEAF6	HGNC:25674	MGI:1917338	-	-	no	no	no	no	NA
MEAK7	HGNC:29325	MGI:1921597	-	-	yes	no	no	no	NA
MECOM	HGNC:3498	MGI:95457	OMIM:616738|ORPHA:402020|ORPHA:71289	Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2|Acute Myeloid Leukemia With Inv(3)(Q21Q26.2) Or T(3;3)(Q21;Q26.2)|Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	yes	yes	yes	yes	65.36
MECP2	HGNC:6990	MGI:99918	OMIM:300673|OMIM:300055|OMIM:300260|OMIM:312750|OMIM:300496|ORPHA:778|ORPHA:536|ORPHA:106|ORPHA:1762|ORPHA:3077|ORPHA:777|ORPHA:3095|ORPHA:209370	Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations|Intellectual Developmental Disorder, X-Linked, Syndromic 13|Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type|Rett Syndrome|Autism, Susceptibility To, X-Linked 3|Systemic Lupus Erythematosus|Non Rare In Europe: Autism|Proximal Xq28 Duplication Syndrome|X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome|X-Linked Non-Syndromic Intellectual Disability|Atypical Rett Syndrome|Severe Neonatal-Onset Encephalopathy With Microcephaly	no	no	no	no	NA
MECR	HGNC:19691	MGI:1349441	OMIM:617282|ORPHA:508093	Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities|Mepan Syndrome	yes	yes	yes	yes	44.57
MED1	HGNC:9234	MGI:1100846	-	-	yes	no	no	no	NA
MED10	HGNC:28760	MGI:106331	-	-	yes	no	no	no	NA
MED11	HGNC:32687	MGI:1913422	OMIM:620327	Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	yes	yes	yes	no	NA
MED12	HGNC:11957	MGI:1926212	OMIM:301068|OMIM:309520|OMIM:300895|OMIM:305450|ORPHA:776|ORPHA:2728|ORPHA:777|ORPHA:293707|ORPHA:93932	Hardikar Syndrome|Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type|Ohdo Syndrome, X-Linked|Opitz-Kaveggia Syndrome|Lujan-Fryns Syndrome|Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type|X-Linked Non-Syndromic Intellectual Disability|Blepharophimosis-Intellectual Disability Syndrome, Mkb Type|Fg Syndrome Type 1	no	no	no	no	NA
MED12L	HGNC:16050	MGI:2139916	OMIM:618872|ORPHA:178469	Nizon-Isidor Syndrome|Autosomal Dominant Non-Syndromic Intellectual Disability	yes	yes	yes	yes	35.445
MED13	HGNC:22474	MGI:3029632	OMIM:618009|ORPHA:528084	Intellectual Developmental Disorder, Autosomal Dominant 61|Non-Specific Syndromic Intellectual Disability	no	no	no	no	NA
MED13L	HGNC:22962	MGI:2670178	OMIM:616789|ORPHA:216718|ORPHA:369891	Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects|Isolated Congenitally Uncorrected Transposition Of The Great Arteries|Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	yes	yes	yes	yes	43.625
MED14	HGNC:2370	MGI:1349442	-	-	no	no	no	no	NA
MED15	HGNC:14248	MGI:2137379	-	-	no	no	no	no	NA
MED16	HGNC:17556	MGI:2158394	-	-	yes	no	no	no	NA
MED17	HGNC:2375	MGI:2182585	OMIM:613668|ORPHA:402364	Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy|Infantile Cerebral And Cerebellar Atrophy With Postnatal Progressive Microcephaly	yes	yes	yes	no	NA
MED18	HGNC:25944	MGI:1914469	-	-	yes	no	no	no	NA
MED19	HGNC:29600	MGI:1914234	-	-	yes	no	no	no	NA
MED20	HGNC:16840	MGI:1929648	-	-	yes	no	no	no	NA
MED21	HGNC:11473	MGI:1347064	-	-	no	no	no	no	NA
MED22	HGNC:11477	MGI:98446	-	-	yes	no	no	no	NA
MED23	HGNC:2372	MGI:1917458	OMIM:614249|ORPHA:88616	Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy|Autosomal Recessive Non-Syndromic Intellectual Disability	yes	yes	yes	no	NA
MED24	HGNC:22963	MGI:1344385	-	-	no	no	no	no	NA
MED25	HGNC:28845	MGI:1922863	OMIM:616449|ORPHA:464738|ORPHA:88616	Basel-Vanagaite-Smirin-Yosef Syndrome|Autosomal Recessive Non-Syndromic Intellectual Disability	yes	yes	yes	yes	29.395
MED26	HGNC:2376	MGI:1917875	-	-	no	no	no	no	NA
MED27	HGNC:2377	MGI:1916225	OMIM:619286|ORPHA:528084	Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia|Non-Specific Syndromic Intellectual Disability	yes	yes	yes	no	NA
MED28	HGNC:24628	MGI:1914249	-	-	yes	no	no	no	NA
MED29	HGNC:23074	MGI:1914474	-	-	no	no	no	no	NA
MED30	HGNC:23032	MGI:1917040	-	-	no	no	no	no	NA
MED31	HGNC:24260	MGI:1914529	-	-	no	no	no	no	NA
MED4	HGNC:17903	MGI:1914631	-	-	no	no	no	no	NA
MED6	HGNC:19970	MGI:1917042	-	-	no	no	no	no	NA
MED7	HGNC:2378	MGI:1913463	-	-	no	no	no	no	NA
MED8	HGNC:19971	MGI:1915269	-	-	no	no	no	no	NA
MED9	HGNC:25487	MGI:2183151	-	-	no	no	no	no	NA
MEDAG	HGNC:25926	MGI:1917967	-	-	yes	no	no	no	NA
MEF2A	HGNC:6993	MGI:99532	OMIM:608320|ORPHA:411969	Coronary Artery Disease, Autosomal Dominant, 1|Non Rare In Europe: Metabolic Syndrome	no	no	no	no	NA
MEF2B	HGNC:6995	MGI:5825566	-	-	no	no	no	no	NA
MEF2C	HGNC:6996	MGI:99458	OMIM:613443|ORPHA:228384|ORPHA:576227	Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language|5Q14.3 Microdeletion Syndrome|Complete Atrioventricular Septal Defect Without Ventricular Hypoplasia	no	no	no	no	NA
MEF2D	HGNC:6997	MGI:99533	-	-	no	no	no	no	NA
MEFV	HGNC:6998	MGI:1859396	OMIM:134610|OMIM:249100|OMIM:608068|ORPHA:117|ORPHA:342|ORPHA:3243|ORPHA:329967	Familial Mediterranean Fever, Autosomal Dominant|Familial Mediterranean Fever|Neutrophilic Dermatosis, Acute Febrile|Behçet Disease|Sweet Syndrome|Intermittent Hydrarthrosis	no	no	no	no	NA
MEGF10	HGNC:29634	MGI:2685177	OMIM:614399|OMIM:620249|ORPHA:439212	Congenital Myopathy 10A, Severe Variant|Congenital Myopathy 10B, Mild Variant|Early-Onset Myopathy-Areflexia-Respiratory Distress-Dysphagia Syndrome	no	no	no	no	NA
MEGF11	HGNC:29635	MGI:1920951	-	-	no	no	no	no	NA
MEGF6	HGNC:3232	MGI:1919351	-	-	no	no	no	no	NA
MEGF8	HGNC:3233	MGI:2446294	OMIM:614976|ORPHA:65759	Carpenter Syndrome 2|Carpenter Syndrome	no	no	no	no	NA
MEGF9	HGNC:3234	MGI:1918264	-	-	no	no	no	no	NA
MEI1	HGNC:28613	MGI:3028590	OMIM:618431|ORPHA:254688	Hydatidiform Mole, Recurrent, 3|Complete Hydatidiform Mole	no	no	no	no	NA
MEI4	HGNC:43638	MGI:1922283	-	-	yes	no	no	no	NA
MEIG1	HGNC:23429	MGI:1202878	-	-	no	no	no	no	NA
MEIKIN	HGNC:51253	MGI:1922097	-	-	no	no	no	no	NA
MEIOB	HGNC:28569	MGI:1922428	OMIM:617706|ORPHA:399805	Spermatogenic Failure 22|Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	no	no	no	no	NA
MEIOC	HGNC:26670	MGI:2686410	-	-	no	no	no	no	NA
MEIOSIN	HGNC:44318	MGI:3647482	-	-	no	no	no	no	NA
MEIS1	HGNC:7000	MGI:104717	-	-	yes	no	no	no	NA
MEIS2	HGNC:7001	MGI:108564	OMIM:600987|ORPHA:261190	Cleft Palate, Cardiac Defects, And Impaired Intellectual Development|15Q14 Microdeletion Syndrome	no	no	no	no	NA
MEIS3	HGNC:29537	MGI:108519	-	-	yes	no	no	no	NA
MELK	HGNC:16870	MGI:106924	-	-	yes	no	no	no	NA
MELTF	HGNC:7037	MGI:1353421	-	-	no	no	no	no	NA
MEMO1	HGNC:14014	MGI:1924140	-	-	yes	no	no	no	NA
MEN1	HGNC:7010	MGI:1316736	OMIM:131100|ORPHA:652|ORPHA:2965|ORPHA:314786|ORPHA:314790|ORPHA:97279|ORPHA:99725|ORPHA:99879	Multiple Endocrine Neoplasia, Type I|Multiple Endocrine Neoplasia Type 1|Prolactinoma|Silent Pituitary Adenoma|Null Pituitary Adenoma|Insulinoma|Pituitary Gigantism|Familial Isolated Hyperparathyroidism	no	no	no	no	NA
MEOX1	HGNC:7013	MGI:103220	OMIM:214300|ORPHA:2345	Klippel-Feil Syndrome 2, Autosomal Recessive|Isolated Klippel-Feil Syndrome	no	no	no	no	NA
MEOX2	HGNC:7014	MGI:103219	-	-	no	no	no	no	NA
MEP1A	HGNC:7015	MGI:96963	-	-	yes	no	no	no	NA
MEP1B	HGNC:7020	MGI:96964	-	-	yes	no	no	no	NA
MEPCE	HGNC:20247	MGI:106477	-	-	yes	no	no	no	NA
MEPE	HGNC:13361	MGI:2137384	-	-	no	no	no	no	NA
MERTK	HGNC:7027	MGI:96965	OMIM:613862|ORPHA:791	Retinitis Pigmentosa 38|Retinitis Pigmentosa	no	no	no	no	NA
MESD	HGNC:13520	MGI:1891421	OMIM:618644|ORPHA:216804	Osteogenesis Imperfecta, Type Xx|Osteogenesis Imperfecta Type 2	no	no	no	no	NA
MESP1	HGNC:29658	MGI:107785	-	-	no	no	no	no	NA
MESP2	HGNC:29659	MGI:1096325	OMIM:608681|ORPHA:2311	Spondylocostal Dysostosis 2, Autosomal Recessive|Autosomal Recessive Spondylocostal Dysostosis	no	no	no	no	NA
MEST	HGNC:7028	MGI:96968	-	-	no	no	no	no	NA
MET	HGNC:7029	MGI:96969	OMIM:620019|OMIM:616705|OMIM:114550|OMIM:605074|OMIM:607278|ORPHA:106|ORPHA:319298|ORPHA:488265|ORPHA:33402|ORPHA:47044|ORPHA:90636	Arthrogryposis, Distal, Type 11|Deafness, Autosomal Recessive 97|Hepatocellular Carcinoma|Renal Cell Carcinoma, Papillary, 1|Osteofibrous Dysplasia, Susceptibility To|Non Rare In Europe: Autism|Papillary Renal Cell Carcinoma|Osteofibrous Dysplasia|Pediatric Hepatocellular Carcinoma|Hereditary Papillary Renal Cell Carcinoma|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	no	no	no	no	NA
METAP1	HGNC:15789	MGI:1922874	-	-	no	no	no	no	NA
METAP1D	HGNC:32583	MGI:1913809	-	-	no	no	no	no	NA
METAP2	HGNC:16672	MGI:1929701	-	-	no	no	no	no	NA
METRN	HGNC:14151	MGI:1917333	-	-	yes	no	no	no	NA
METRNL	HGNC:27584	MGI:2384806	-	-	yes	no	no	no	NA
METTL1	HGNC:7030	MGI:1339986	-	-	no	no	no	no	NA
METTL13	HGNC:24248	MGI:1918699	OMIM:605429	Deafness, Autosomal Recessive 26, Modifier Of	no	no	no	no	NA
METTL14	HGNC:29330	MGI:2442926	-	-	yes	no	no	no	NA
METTL15	HGNC:26606	MGI:1924144	-	-	no	no	no	no	NA
METTL16	HGNC:28484	MGI:1914743	-	-	yes	no	no	no	NA
METTL17	HGNC:19280	MGI:1098577	-	-	no	no	no	no	NA
METTL18	HGNC:28793	MGI:1917212	-	-	yes	no	no	no	NA
METTL21A	HGNC:30476	MGI:1914349	-	-	no	no	no	no	NA
METTL21C	HGNC:33717	MGI:3611450	-	-	yes	no	no	no	NA
METTL21EP	HGNC:41948	MGI:2685837	-	-	no	no	no	no	NA
METTL22	HGNC:28368	MGI:2384301	-	-	yes	no	no	no	NA
METTL23	HGNC:26988	MGI:1921569	OMIM:615942|ORPHA:88616	Intellectual Developmental Disorder, Autosomal Recessive 44|Autosomal Recessive Non-Syndromic Intellectual Disability	yes	yes	yes	no	NA
METTL24	HGNC:21566	MGI:3045338	-	-	yes	no	no	no	NA
METTL25	HGNC:26228	MGI:3041259	-	-	yes	no	no	no	NA
METTL25B	HGNC:24273	MGI:2387197	-	-	no	no	no	no	NA
METTL26	HGNC:14141	MGI:1915597	-	-	yes	no	no	no	NA
METTL27	HGNC:19068	MGI:1933146	ORPHA:904	Williams Syndrome	no	no	no	no	NA
METTL3	HGNC:17563	MGI:1927165	-	-	yes	no	no	no	NA
METTL4	HGNC:24726	MGI:1924031	-	-	no	no	no	no	NA
METTL5	HGNC:25006	MGI:1922672	OMIM:618665|ORPHA:2512	Intellectual Developmental Disorder, Autosomal Recessive 72|Autosomal Recessive Primary Microcephaly	yes	yes	yes	yes	38.61
METTL6	HGNC:28343	MGI:1914261	-	-	yes	no	no	no	NA
METTL8	HGNC:25856	MGI:2385142	-	-	no	no	no	no	NA
METTL9	HGNC:24586	MGI:1914862	-	-	no	no	no	no	NA
MEX3A	HGNC:33482	MGI:1919890	-	-	no	no	no	no	NA
MEX3B	HGNC:25297	MGI:1918252	-	-	yes	no	no	no	NA
MEX3C	HGNC:28040	MGI:2652843	-	-	no	no	no	no	NA
MEX3D	HGNC:16734	MGI:2681847	-	-	no	no	no	no	NA
MFAP2	HGNC:7033	MGI:99559	-	-	no	no	no	no	NA
MFAP3	HGNC:7034	MGI:1924068	-	-	no	no	no	no	NA
MFAP3L	HGNC:29083	MGI:1918556	-	-	no	no	no	no	NA
MFAP4	HGNC:7035	MGI:1342276	-	-	yes	no	no	no	NA
MFAP5	HGNC:29673	MGI:1354387	OMIM:616166|ORPHA:91387	Aortic Aneurysm, Familial Thoracic 9|Familial Thoracic Aortic Aneurysm And Aortic Dissection	no	no	no	no	NA
MFF	HGNC:24858	MGI:1922984	OMIM:617086|ORPHA:485421	Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2|Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	no	no	no	no	NA
MFGE8	HGNC:7036	MGI:102768	-	-	no	no	no	no	NA
MFHAS1	HGNC:16982	MGI:1098644	-	-	no	no	no	no	NA
MFN1	HGNC:18262	MGI:1914664	-	-	yes	no	no	no	NA
MFN2	HGNC:16877	MGI:2442230	OMIM:609260|OMIM:617087|OMIM:601152|OMIM:151800|ORPHA:2398|ORPHA:64751|ORPHA:90118|ORPHA:90120|ORPHA:99947	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A|Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B|Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy|Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy|Multiple Symmetric Lipomatosis|Hereditary Motor And Sensory Neuropathy Type 5|Severe Early-Onset Axonal Neuropathy Due To Mfn2 Deficiency|Hereditary Motor And Sensory Neuropathy Type 6|Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	yes	yes	yes	yes	47.57
MFNG	HGNC:7038	MGI:1095404	-	-	yes	no	no	no	NA
MFRP	HGNC:18121	MGI:2385957	OMIM:611040|OMIM:609549|ORPHA:251279|ORPHA:35612	Microphthalmia, Isolated 5|Nanophthalmos 2|Microphthalmia-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome|Nanophthalmos	yes	yes	yes	no	NA
MFSD1	HGNC:25874	MGI:1914118	-	-	yes	no	no	no	NA
MFSD10	HGNC:16894	MGI:1915544	-	-	yes	no	no	no	NA
MFSD11	HGNC:25458	MGI:1917150	-	-	no	no	no	no	NA
MFSD12	HGNC:28299	MGI:3604804	-	-	no	no	no	no	NA
MFSD13A	HGNC:26196	MGI:1922396	-	-	no	no	no	no	NA
MFSD14A	HGNC:23363	MGI:1201609	-	-	no	no	no	no	NA
MFSD14B	HGNC:23376	MGI:1913881	-	-	no	no	no	no	NA
MFSD2A	HGNC:25897	MGI:1923824	OMIM:616486|ORPHA:2512	Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities|Autosomal Recessive Primary Microcephaly	yes	yes	yes	no	NA
MFSD2B	HGNC:37207	MGI:3583946	-	-	yes	no	no	no	NA
MFSD3	HGNC:25157	MGI:1916822	-	-	no	no	no	no	NA
MFSD4A	HGNC:25433	MGI:2442786	-	-	no	no	no	no	NA
MFSD5	HGNC:28156	MGI:2145901	-	-	no	no	no	no	NA
MFSD6	HGNC:24711	MGI:1922925	-	-	no	no	no	no	NA
MFSD6L	HGNC:26656	MGI:2384904	-	-	no	no	no	no	NA
MFSD8	HGNC:28486	MGI:1919425	OMIM:610951|OMIM:616170|ORPHA:228366	Ceroid Lipofuscinosis, Neuronal, 7|Macular Dystrophy With Central Cone Involvement|Cln7 Disease	yes	yes	yes	yes	48.635
MFSD9	HGNC:28158	MGI:2443548	-	-	no	no	no	no	NA
MGA	HGNC:14010	MGI:1352483	-	-	no	no	no	no	NA
MGAM	HGNC:7043	MGI:1203495	-	-	no	no	no	no	NA
MGARP	HGNC:29969	MGI:1914999	-	-	no	no	no	no	NA
MGAT1	HGNC:7044	MGI:96973	-	-	yes	no	no	no	NA
MGAT2	HGNC:7045	MGI:2384966	OMIM:212066|ORPHA:79329	Congenital Disorder Of Glycosylation, Type Iia|Mgat2-Cdg	no	no	no	no	NA
MGAT3	HGNC:7046	MGI:104532	-	-	no	no	no	no	NA
MGAT4A	HGNC:7047	MGI:2662992	-	-	no	no	no	no	NA
MGAT4B	HGNC:7048	MGI:2143974	-	-	no	no	no	no	NA
MGAT4C	HGNC:30871	MGI:1914819	-	-	yes	no	no	no	NA
MGAT4D	HGNC:43619	MGI:1914805	-	-	yes	no	no	no	NA
MGAT5	HGNC:7049	MGI:894701	-	-	no	no	no	no	NA
MGAT5B	HGNC:24140	MGI:3606200	-	-	no	no	no	no	NA
MGLL	HGNC:17038	MGI:1346042	-	-	yes	no	no	no	NA
MGME1	HGNC:16205	MGI:1921778	OMIM:615084|ORPHA:352447	Mitochondrial Dna Depletion Syndrome 11|Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	yes	yes	yes	no	NA
MGMT	HGNC:7059	MGI:96977	ORPHA:251576|ORPHA:251579|ORPHA:618	Gliosarcoma|Giant Cell Glioblastoma|Familial Melanoma	yes	yes	yes	no	NA
MGP	HGNC:7060	MGI:96976	OMIM:245150|ORPHA:85202	Keutel Syndrome	no	no	no	no	NA
MGRN1	HGNC:20254	MGI:2447670	-	-	yes	no	no	no	NA
MGST1	HGNC:7061	MGI:1913850	-	-	yes	no	no	no	NA
MGST2	HGNC:7063	MGI:2448481	-	-	yes	no	no	no	NA
MGST3	HGNC:7064	MGI:1913697	-	-	yes	no	no	no	NA
MIA	HGNC:7076	MGI:109615	-	-	no	no	no	no	NA
MIA2	HGNC:18432	MGI:2159614	-	-	no	no	no	no	NA
MIA3	HGNC:24008	MGI:2443183	OMIM:619269	Odontochondrodysplasia 2 With Hearing Loss And Diabetes	no	no	no	no	NA
MIB1	HGNC:21086	MGI:2443157	OMIM:615092|ORPHA:54260	Left Ventricular Noncompaction 7|Left Ventricular Noncompaction	no	no	no	no	NA
MIB2	HGNC:30577	MGI:2679684	ORPHA:54260	Left Ventricular Noncompaction	yes	yes	no	no	NA
MICAL1	HGNC:20619	MGI:2385847	-	-	no	no	no	no	NA
MICAL2	HGNC:24693	MGI:2444947	-	-	yes	no	no	no	NA
MICAL3	HGNC:24694	MGI:2442733	-	-	yes	no	no	no	NA
MICALL1	HGNC:29804	MGI:105870	-	-	yes	no	no	no	NA
MICALL2	HGNC:29672	MGI:2444818	-	-	no	no	no	no	NA
MICOS10	HGNC:32068	MGI:1913628	-	-	no	no	no	no	NA
MICOS13	HGNC:33702	MGI:2442174	OMIM:618329|ORPHA:67047	Combined Oxidative Phosphorylation Deficiency 37|3-Methylglutaconic Aciduria Type 3	yes	yes	yes	yes	23.455
MICU1	HGNC:1530	MGI:2384909	OMIM:615673|ORPHA:401768	Myopathy With Extrapyramidal Signs|Proximal Myopathy With Extrapyramidal Signs	yes	yes	yes	yes	45.32
MICU2	HGNC:31830	MGI:1915764	-	-	yes	no	no	no	NA
MICU3	HGNC:27820	MGI:1925756	-	-	yes	no	no	no	NA
MID1	HGNC:7095	MGI:1100537	OMIM:300000|ORPHA:2745	Opitz Gbbb Syndrome	yes	yes	yes	yes	27.77
MID1IP1	HGNC:20715	MGI:1915291	-	-	yes	no	no	no	NA
MID2	HGNC:7096	MGI:1344333	OMIM:300928|ORPHA:777	Intellectual Developmental Disorder, X-Linked 101|X-Linked Non-Syndromic Intellectual Disability	yes	yes	yes	no	NA
MIDEAS	HGNC:19853	MGI:2685106	-	-	no	no	no	no	NA
MIDN	HGNC:16298	MGI:1890222	-	-	yes	no	no	no	NA
MIEF1	HGNC:25979	MGI:2146020	OMIM:620550	Optic Atrophy 14	yes	yes	yes	no	NA
MIEF2	HGNC:17920	MGI:2144199	OMIM:619024	Combined Oxidative Phosphorylation Deficiency 49	no	no	no	no	NA
MIEN1	HGNC:28230	MGI:1913678	-	-	no	no	no	no	NA
MIER1	HGNC:29657	MGI:1918398	-	-	yes	no	no	no	NA
MIER2	HGNC:29210	MGI:1917677	-	-	no	no	no	no	NA
MIER3	HGNC:26678	MGI:2442317	-	-	no	no	no	no	NA
MIF	HGNC:7097	MGI:96982	OMIM:604302|ORPHA:586|ORPHA:85414	Rheumatoid Arthritis, Systemic Juvenile|Cystic Fibrosis|Systemic-Onset Juvenile Idiopathic Arthritis	no	no	no	no	NA
MIF4GD	HGNC:24030	MGI:1916924	-	-	yes	no	no	no	NA
MIGA1	HGNC:24741	MGI:1924567	-	-	yes	no	no	no	NA
MIGA2	HGNC:23621	MGI:1922035	-	-	yes	no	no	no	NA
MIIP	HGNC:25715	MGI:106506	-	-	no	no	no	no	NA
MILR1	HGNC:27570	MGI:2685731	-	-	yes	no	no	no	NA
MINAR1	HGNC:29172	MGI:2667167	-	-	yes	no	no	no	NA
MINAR2	HGNC:33914	MGI:2442934	OMIM:620238|ORPHA:90636	Deafness, Autosomal Recessive 120|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	yes	yes	yes	yes	28.04
MINDY1	HGNC:25648	MGI:1922257	-	-	yes	no	no	no	NA
MINDY2	HGNC:26954	MGI:2443086	-	-	yes	no	no	no	NA
MINDY3	HGNC:23578	MGI:1914210	-	-	yes	no	no	no	NA
MINDY4	HGNC:21916	MGI:3583959	-	-	yes	no	no	no	NA
MINK1	HGNC:17565	MGI:1355329	-	-	yes	no	no	no	NA
MINPP1	HGNC:7102	MGI:1336159	OMIM:619527|OMIM:188470|ORPHA:319487|ORPHA:284339	Pontocerebellar Hypoplasia, Type 16|Thyroid Cancer, Nonmedullary, 2|Familial Papillary Or Follicular Thyroid Carcinoma|Pontocerebellar Hypoplasia Type 7	no	no	no	no	NA
MIOS	HGNC:21905	MGI:2182066	-	-	no	no	no	no	NA
MIOX	HGNC:14522	MGI:1891725	-	-	no	no	no	no	NA
MIP	HGNC:7103	MGI:96990	OMIM:615274|ORPHA:441452|ORPHA:98989|ORPHA:98985|ORPHA:98991|ORPHA:98994|ORPHA:98993	Cataract 15, Multiple Types|Early-Onset Lamellar Cataract|Cerulean Cataract|Early-Onset Sutural Cataract|Early-Onset Nuclear Cataract|Total Early-Onset Cataract|Early-Onset Posterior Polar Cataract	no	no	no	no	NA
MIPEP	HGNC:7104	MGI:1917728	OMIM:617228|ORPHA:478049	Combined Oxidative Phosphorylation Deficiency 31|Lethal Left Ventricular Non-Compaction-Seizures-Hypotonia-Cataract-Developmental Delay Syndrome	yes	yes	yes	yes	21.64
MIPOL1	HGNC:21460	MGI:1920740	-	-	yes	no	no	no	NA
MIS12	HGNC:24967	MGI:1914389	-	-	no	no	no	no	NA
MIS18A	HGNC:1286	MGI:1913828	-	-	no	no	no	no	NA
MIS18BP1	HGNC:20190	MGI:2145099	-	-	yes	no	no	no	NA
MISP	HGNC:27000	MGI:1926156	-	-	no	no	no	no	NA
MISP3	HGNC:26963	MGI:1917384	-	-	no	no	no	no	NA
MITD1	HGNC:25207	MGI:1916278	-	-	no	no	no	no	NA
MITF	HGNC:7105	MGI:104554	OMIM:617306|OMIM:103500|OMIM:193510|OMIM:614456|ORPHA:895|ORPHA:897|ORPHA:618|ORPHA:319298|ORPHA:293822|ORPHA:404511|ORPHA:42665	Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness|Tietz Albinism-Deafness Syndrome|Waardenburg Syndrome, Type 2A|Melanoma, Cutaneous Malignant, Susceptibility To, 8|Waardenburg Syndrome Type 2|Waardenburg-Shah Syndrome|Familial Melanoma|Papillary Renal Cell Carcinoma|Mitf-Related Melanoma And Renal Cell Carcinoma Predisposition Syndrome|Clear Cell Papillary Renal Cell Carcinoma|Tietz Syndrome	no	no	no	no	NA
MIX23	HGNC:31136	MGI:2146423	-	-	no	no	no	no	NA
MIXL1	HGNC:13363	MGI:1351322	-	-	no	no	no	no	NA
MKI67	HGNC:7107	MGI:106035	-	-	no	no	no	no	NA
MKKS	HGNC:7108	MGI:1891836	OMIM:605231|OMIM:236700|ORPHA:2473|ORPHA:110	Bardet-Biedl Syndrome 6|Mckusick-Kaufman Syndrome|Bardet-Biedl Syndrome	no	no	no	no	NA
MKLN1	HGNC:7109	MGI:1351638	-	-	no	no	no	no	NA
MKNK1	HGNC:7110	MGI:894316	-	-	no	no	no	no	NA
MKNK2	HGNC:7111	MGI:894279	-	-	no	no	no	no	NA
MKRN1	HGNC:7112	MGI:1859353	-	-	no	no	no	no	NA
MKRN2	HGNC:7113	MGI:1914277	-	-	yes	no	no	no	NA
MKRN2OS	HGNC:40375	MGI:1917541	-	-	no	no	no	no	NA
MKRN3	HGNC:7114	MGI:2181178	OMIM:615346|ORPHA:650097|ORPHA:650077	Precocious Puberty, Central, 2|Genetic Central Precocious Puberty In Male|Genetic Central Precocious Puberty In Female	yes	yes	yes	no	NA
MKS1	HGNC:7121	MGI:3584243	OMIM:615990|OMIM:617121|OMIM:249000|ORPHA:564|ORPHA:475|ORPHA:110|ORPHA:220493	Bardet-Biedl Syndrome 13|Joubert Syndrome 28|Meckel Syndrome, Type 1|Meckel Syndrome|Joubert Syndrome|Bardet-Biedl Syndrome|Joubert Syndrome With Ocular Defect	yes	yes	yes	yes	23.57
MKX	HGNC:23729	MGI:2687286	-	-	no	no	no	no	NA
MLANA	HGNC:7124	MGI:108454	-	-	no	no	no	no	NA
MLC1	HGNC:17082	MGI:2157910	OMIM:604004|ORPHA:2478	Megalencephalic Leukoencephalopathy With Subcortical Cysts 1|Megalencephalic Leukoencephalopathy With Subcortical Cysts	yes	yes	yes	no	NA
MLEC	HGNC:28973	MGI:1924015	-	-	yes	no	no	no	NA
MLF1	HGNC:7125	MGI:1341819	-	-	no	no	no	no	NA
MLF2	HGNC:7126	MGI:1353554	-	-	no	no	no	no	NA
MLH1	HGNC:7127	MGI:101938	OMIM:609310|OMIM:276300|OMIM:158320|ORPHA:587|ORPHA:252202|ORPHA:144	Lynch Syndrome 2|Mismatch Repair Cancer Syndrome 1|Muir-Torre Syndrome|Constitutional Mismatch Repair Deficiency Syndrome|Lynch Syndrome	yes	yes	yes	yes	16.335
MLH3	HGNC:7128	MGI:1353455	OMIM:114500|OMIM:614385|OMIM:608089|ORPHA:144	Colorectal Cancer|Colorectal Cancer, Hereditary Nonpolyposis, Type 7|Endometrial Cancer|Lynch Syndrome	yes	yes	yes	no	NA
MLKL	HGNC:26617	MGI:1921818	-	-	no	no	no	no	NA
MLLT1	HGNC:7134	MGI:1927238	-	-	no	no	no	no	NA
MLLT10	HGNC:16063	MGI:1329038	OMIM:601626|ORPHA:99861	Leukemia, Acute Myeloid|Precursor T-Cell Acute Lymphoblastic Leukemia	yes	yes	yes	yes	26.84
MLLT11	HGNC:16997	MGI:1929671	-	-	no	no	no	no	NA
MLLT3	HGNC:7136	MGI:1917372	ORPHA:402017	Acute Myeloid Leukemia With T(9;11)(P22;Q23)	yes	yes	no	no	NA
MLLT6	HGNC:7138	MGI:1935145	-	-	yes	no	no	no	NA
MLPH	HGNC:29643	MGI:2176380	OMIM:609227|ORPHA:79478	Griscelli Syndrome, Type 3|Griscelli Syndrome Type 3	yes	no	yes	no	NA
MLST8	HGNC:24825	MGI:1929514	-	-	no	no	no	no	NA
MLX	HGNC:11645	MGI:108398	ORPHA:3287	Takayasu Arteritis	yes	yes	yes	yes	35.62
MLXIP	HGNC:17055	MGI:2141183	-	-	no	no	no	no	NA
MLXIPL	HGNC:12744	MGI:1927999	ORPHA:904	Williams Syndrome	no	no	no	no	NA
MLYCD	HGNC:7150	MGI:1928485	OMIM:248360|ORPHA:943	Malonyl-Coa Decarboxylase Deficiency|Malonic Aciduria	no	no	no	no	NA
MMAB	HGNC:19331	MGI:1924947	OMIM:251110|ORPHA:79311	Methylmalonic Aciduria, Cblb Type|Vitamin B12-Responsive Methylmalonic Acidemia Type Cblb	yes	yes	yes	yes	16.885
MMACHC	HGNC:24525	MGI:1914346	OMIM:277400|ORPHA:79282	Methylmalonic Aciduria And Homocystinuria, Cblc Type|Methylmalonic Acidemia With Homocystinuria, Type Cblc	yes	yes	yes	yes	30.28
MMADHC	HGNC:25221	MGI:1923786	OMIM:277410|ORPHA:308380|ORPHA:308442|ORPHA:79283	Methylmalonic Aciduria And Homocystinuria, Cbld Type|Methylcobalamin Deficiency Type Cbldv1|Vitamin B12-Responsive Methylmalonic Acidemia, Type Cbldv2|Methylmalonic Acidemia With Homocystinuria, Type Cbld	no	no	no	no	NA
MMD	HGNC:7153	MGI:1914718	-	-	yes	no	no	no	NA
MMD2	HGNC:30133	MGI:1922354	-	-	yes	no	no	no	NA
MME	HGNC:7154	MGI:97004	OMIM:617018|OMIM:617017|ORPHA:495274|ORPHA:497757|ORPHA:497764|ORPHA:69063	Spinocerebellar Ataxia 43|Charcot-Marie-Tooth Disease, Axonal, Type 2T|Charcot-Marie-Tooth Disease Type 2T|Mme-Related Autosomal Dominant Charcot Marie Tooth Disease Type 2|Spinocerebellar Ataxia Type 43|Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	yes	yes	yes	no	NA
MMEL1	HGNC:14668	MGI:1351603	ORPHA:186	Primary Biliary Cholangitis	no	no	no	no	NA
MMGT1	HGNC:28100	MGI:2384305	-	-	no	no	no	no	NA
MMP10	HGNC:7156	MGI:97007	-	-	no	no	no	no	NA
MMP11	HGNC:7157	MGI:97008	-	-	yes	no	no	no	NA
MMP12	HGNC:7158	MGI:97005	-	-	yes	no	no	no	NA
MMP13	HGNC:7159	MGI:1340026	OMIM:602111|OMIM:250400|ORPHA:1040|ORPHA:2501|ORPHA:93356	Spondyloepimetaphyseal Dysplasia, Missouri Type|Metaphyseal Dysplasia, Spahr Type|Metaphyseal Anadysplasia|Metaphyseal Chondrodysplasia, Spahr Type	yes	yes	yes	yes	65.44
MMP14	HGNC:7160	MGI:101900	OMIM:277950|ORPHA:371428	Winchester Syndrome|Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	no	no	no	no	NA
MMP15	HGNC:7161	MGI:109320	-	-	yes	no	no	no	NA
MMP16	HGNC:7162	MGI:1276107	-	-	yes	no	no	no	NA
MMP17	HGNC:7163	MGI:1346076	-	-	no	no	no	no	NA
MMP19	HGNC:7165	MGI:1927899	OMIM:611543|ORPHA:464760	Cavitary Optic Disc Anomalies|Familial Cavitary Optic Disc Anomaly	no	no	no	no	NA
MMP2	HGNC:7166	MGI:97009	OMIM:259600|ORPHA:371428	Multicentric Osteolysis, Nodulosis, And Arthropathy|Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	yes	yes	yes	yes	38.79
MMP20	HGNC:7167	MGI:1353466	OMIM:612529|ORPHA:100033	Amelogenesis Imperfecta, Hypomaturation Type, Iia2|Hypomaturation Amelogenesis Imperfecta	yes	yes	yes	yes	66.55
MMP21	HGNC:14357	MGI:2664387	OMIM:616749|ORPHA:157769|ORPHA:101063	Heterotaxy, Visceral, 7, Autosomal|Situs Ambiguus|Situs Inversus Totalis	no	no	no	no	NA
MMP23B	HGNC:7171	MGI:1347361	ORPHA:1606	1P36 Deletion Syndrome	yes	no	yes	no	NA
MMP24	HGNC:7172	MGI:1341867	-	-	no	no	no	no	NA
MMP25	HGNC:14246	MGI:2443938	-	-	no	no	no	no	NA
MMP27	HGNC:14250	MGI:3039232	-	-	no	no	no	no	NA
MMP28	HGNC:14366	MGI:2153062	-	-	no	no	no	no	NA
MMP3	HGNC:7173	MGI:97010	OMIM:614466	Coronary Heart Disease, Susceptibility To, 6	no	no	no	no	NA
MMP7	HGNC:7174	MGI:103189	-	-	no	no	no	no	NA
MMP8	HGNC:7175	MGI:1202395	-	-	yes	no	no	no	NA
MMP9	HGNC:7176	MGI:97011	OMIM:613073|ORPHA:1040	Metaphyseal Anadysplasia 2|Metaphyseal Anadysplasia	yes	yes	yes	yes	66.53
MMRN1	HGNC:7178	MGI:1918195	-	-	yes	no	no	no	NA
MMRN2	HGNC:19888	MGI:2385618	-	-	no	no	no	no	NA
MMS19	HGNC:13824	MGI:1919449	-	-	no	no	no	no	NA
MMS22L	HGNC:21475	MGI:2684980	-	-	yes	no	no	no	NA
MMUT	HGNC:7526	MGI:97239	OMIM:251000|ORPHA:289916|ORPHA:79312	Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency|Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0|Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	no	no	no	no	NA
MN1	HGNC:7180	MGI:1261813	OMIM:618774|OMIM:607174|ORPHA:263662	Cebalid Syndrome|Meningioma, Familial, Susceptibility To|Familial Multiple Meningioma	no	no	no	no	NA
MNAT1	HGNC:7181	MGI:106207	-	-	no	no	no	no	NA
MND1	HGNC:24839	MGI:1924165	-	-	no	no	no	no	NA
MNS1	HGNC:29636	MGI:107933	OMIM:618948	Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	no	no	no	no	NA
MNT	HGNC:7188	MGI:109150	-	-	no	no	no	no	NA
MNX1	HGNC:4979	MGI:109160	OMIM:176450|ORPHA:1552	Currarino Syndrome	no	no	no	no	NA
MOAP1	HGNC:16658	MGI:1915555	-	-	no	no	no	no	NA
MOB1A	HGNC:16015	MGI:2442631	-	-	yes	no	no	no	NA
MOB1B	HGNC:29801	MGI:1915723	-	-	no	no	no	no	NA
MOB2	HGNC:24904	MGI:1919891	-	-	yes	no	no	no	NA
MOB3A	HGNC:29802	MGI:3050117	-	-	no	no	no	no	NA
MOB3B	HGNC:23825	MGI:2664539	-	-	no	no	no	no	NA
MOB3C	HGNC:29800	MGI:2140623	-	-	no	no	no	no	NA
MOB4	HGNC:17261	MGI:104899	-	-	yes	no	no	no	NA
MOBP	HGNC:7189	MGI:108511	-	-	no	no	no	no	NA
MOCOS	HGNC:18234	MGI:1915841	OMIM:603592|ORPHA:93602	Xanthinuria, Type Ii|Xanthinuria Type Ii	yes	yes	yes	yes	25.405
MOCS1	HGNC:7190	MGI:1928904	OMIM:252150|ORPHA:308386	Molybdenum Cofactor Deficiency, Complementation Group A|Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type A	no	no	no	no	NA
MOCS2	HGNC:7193	MGI:1336894	OMIM:252160|ORPHA:308393	Molybdenum Cofactor Deficiency, Complementation Group B|Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type B	yes	yes	yes	yes	20.985
MOCS3	HGNC:15765	MGI:1916622	-	-	no	no	no	no	NA
MOG	HGNC:7197	MGI:97435	OMIM:614250|ORPHA:2073	Narcolepsy 7|Narcolepsy Type 1	no	no	no	no	NA
MOGAT1	HGNC:18210	MGI:1915643	-	-	yes	no	no	no	NA
MOGAT2	HGNC:23248	MGI:2663253	-	-	yes	no	no	no	NA
MOGS	HGNC:24862	MGI:1929872	OMIM:606056|ORPHA:79330	Congenital Disorder Of Glycosylation, Type Iib|Mogs-Cdg	yes	yes	yes	yes	33.025
MOK	HGNC:9833	MGI:1336881	-	-	yes	no	no	no	NA
MON1A	HGNC:28207	MGI:1920075	-	-	yes	no	no	no	NA
MON1B	HGNC:25020	MGI:1923231	-	-	yes	no	no	no	NA
MON2	HGNC:29177	MGI:1914324	-	-	yes	no	no	no	NA
MORC1	HGNC:7198	MGI:1316740	-	-	no	no	no	no	NA
MORC3	HGNC:23572	MGI:2136841	-	-	yes	no	no	no	NA
MORC4	HGNC:23485	MGI:1922996	-	-	yes	no	no	no	NA
MORF4L1	HGNC:16989	MGI:1096551	-	-	no	no	no	no	NA
MORF4L2	HGNC:16849	MGI:1927167	-	-	no	no	no	no	NA
MORN1	HGNC:25852	MGI:1924116	-	-	yes	no	no	no	NA
MORN2	HGNC:30166	MGI:2674071	-	-	no	no	no	no	NA
MORN3	HGNC:29807	MGI:1922140	-	-	yes	no	no	no	NA
MORN4	HGNC:24001	MGI:2449568	-	-	no	no	no	no	NA
MORN5	HGNC:17841	MGI:1922745	-	-	yes	no	no	no	NA
MOS	HGNC:7199	MGI:97052	OMIM:620383	Oocyte/Zygote/Embryo Maturation Arrest 20	yes	yes	yes	no	NA
MOSMO	HGNC:27087	MGI:2446240	-	-	no	no	no	no	NA
MOSPD1	HGNC:25235	MGI:1917630	-	-	yes	no	no	no	NA
MOSPD2	HGNC:28381	MGI:1924013	-	-	no	no	no	no	NA
MOSPD3	HGNC:25078	MGI:1916179	-	-	no	no	no	no	NA
MOV10	HGNC:7200	MGI:97054	-	-	yes	no	no	no	NA
MOV10L1	HGNC:7201	MGI:1891384	OMIM:619878|ORPHA:399805	Spermatogenic Failure 73|Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	no	no	no	no	NA
MOXD1	HGNC:21063	MGI:1921582	-	-	yes	no	no	no	NA
MPC1	HGNC:21606	MGI:1915240	OMIM:614741|ORPHA:447784	Mitochondrial Pyruvate Carrier Deficiency	no	no	no	no	NA
MPC2	HGNC:24515	MGI:1917706	-	-	no	no	no	no	NA
MPDU1	HGNC:7207	MGI:1346040	OMIM:609180|ORPHA:79323	Congenital Disorder Of Glycosylation, Type If|Mpdu1-Cdg	no	no	no	no	NA
MPDZ	HGNC:7208	MGI:1343489	OMIM:615219|ORPHA:269505	Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies|Congenital Communicating Hydrocephalus	yes	yes	yes	yes	31.365
MPG	HGNC:7211	MGI:97073	-	-	yes	no	no	no	NA
MPHOSPH10	HGNC:7213	MGI:1915223	-	-	yes	no	no	no	NA
MPHOSPH6	HGNC:7214	MGI:1915783	-	-	no	no	no	no	NA
MPHOSPH8	HGNC:29810	MGI:1922589	-	-	yes	no	no	no	NA
MPHOSPH9	HGNC:7215	MGI:2443138	-	-	yes	no	no	no	NA
MPI	HGNC:7216	MGI:97075	OMIM:602579|ORPHA:79319	Congenital Disorder Of Glycosylation, Type Ib|Mpi-Cdg	yes	yes	yes	yes	19.82
MPIG6B	HGNC:13937	MGI:2146995	OMIM:617441	Thrombocytopenia, Anemia, And Myelofibrosis	yes	yes	yes	yes	56.145
MPL	HGNC:7217	MGI:97076	OMIM:254450|OMIM:601977|OMIM:604498|ORPHA:3319|ORPHA:3318|ORPHA:397692|ORPHA:824|ORPHA:729|ORPHA:71493	Myelofibrosis|Thrombocythemia 2|Amegakaryocytic Thrombocytopenia, Congenital, 1|Congenital Amegakaryocytic Thrombocytopenia|Essential Thrombocythemia|Hereditary Isolated Aplastic Anemia|Primary Myelofibrosis|Polycythemia Vera|Familial Thrombocytosis	no	no	no	no	NA
MPND	HGNC:25934	MGI:1915297	-	-	no	no	no	no	NA
MPO	HGNC:7218	MGI:97137	OMIM:104300|OMIM:254600|ORPHA:2587	Alzheimer Disease, Familial, 1|Myeloperoxidase Deficiency	yes	no	yes	no	NA
MPP1	HGNC:7219	MGI:105941	-	-	no	no	no	no	NA
MPP2	HGNC:7220	MGI:1858257	-	-	yes	no	no	no	NA
MPP3	HGNC:7221	MGI:1328354	-	-	yes	no	no	no	NA
MPP4	HGNC:13680	MGI:2386681	-	-	no	no	no	no	NA
MPP7	HGNC:26542	MGI:1922989	-	-	no	no	no	no	NA
MPPE1	HGNC:15988	MGI:2661311	-	-	no	no	no	no	NA
MPPED1	HGNC:1306	MGI:106316	-	-	no	no	no	no	NA
MPPED2	HGNC:1180	MGI:1924265	-	-	yes	no	no	no	NA
MPRIP	HGNC:30321	MGI:1349438	-	-	yes	no	no	no	NA
MPST	HGNC:7223	MGI:2179733	-	-	yes	no	no	no	NA
MPV17	HGNC:7224	MGI:97138	OMIM:618400|OMIM:256810|ORPHA:255229	Charcot-Marie-Tooth Disease, Axonal, Type 2Ee|Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)|Navajo Neurohepatopathy	yes	yes	yes	yes	37.2
MPV17L	HGNC:26827	MGI:2135951	-	-	no	no	no	no	NA
MPV17L2	HGNC:28177	MGI:2681846	-	-	yes	no	no	no	NA
MPZ	HGNC:7225	MGI:103177	OMIM:607791|OMIM:118200|OMIM:607677|OMIM:607736|OMIM:145900|OMIM:618184|OMIM:180800|ORPHA:3115|ORPHA:324585|ORPHA:64748|ORPHA:538574|ORPHA:101082|ORPHA:100046|ORPHA:99942|ORPHA:99943	Charcot-Marie-Tooth Disease, Dominant Intermediate D|Charcot-Marie-Tooth Disease, Demyelinating, Type 1B|Charcot-Marie-Tooth Disease, Axonal, Type 2I|Charcot-Marie-Tooth Disease, Axonal, Type 2J|Hypertrophic Neuropathy Of Dejerine-Sottas|Neuropathy, Congenital Hypomyelinating, 2|Roussy-Levy Hereditary Areflexic Dystasia|Roussy-Lévy Syndrome|Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease With Neuropathic Pain|Dejerine-Sottas Syndrome|Palmoplantar Keratoderma-Hereditary Motor And Sensory Neuropathy Syndrome|Charcot-Marie-Tooth Disease Type 1B|Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type D|Autosomal Dominant Charcot-Marie-Tooth Disease Type 2I|Autosomal Dominant Charcot-Marie-Tooth Disease Type 2J	yes	yes	yes	yes	53.085
MPZL1	HGNC:7226	MGI:1915731	-	-	yes	no	no	no	NA
MPZL2	HGNC:3496	MGI:1289160	OMIM:618145|ORPHA:90636	Deafness, Autosomal Recessive 111|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	yes	yes	yes	yes	24.8
MPZL3	HGNC:27279	MGI:2442647	-	-	no	no	no	no	NA
MR1	HGNC:4975	MGI:1195463	-	-	yes	no	no	no	NA
MRAP	HGNC:1304	MGI:1924287	OMIM:607398|ORPHA:361	Glucocorticoid Deficiency 2|Familial Glucocorticoid Deficiency	yes	yes	yes	no	NA
MRAP2	HGNC:21232	MGI:3609239	OMIM:615457	Body Mass Index Quantitative Trait Locus 18	yes	yes	no	no	NA
MRAS	HGNC:7227	MGI:1100856	OMIM:618499|ORPHA:648	Noonan Syndrome 11|Noonan Syndrome	yes	yes	yes	no	NA
MRC1	HGNC:7228	MGI:97142	-	-	no	no	no	no	NA
MRC2	HGNC:16875	MGI:107818	-	-	no	no	no	no	NA
MRE11	HGNC:7230	MGI:1100512	OMIM:604391|ORPHA:251347|ORPHA:145|ORPHA:240760	Ataxia-Telangiectasia-Like Disorder 1|Ataxia-Telangiectasia-Like Disorder|Hereditary Breast And/Or Ovarian Cancer Syndrome|Nijmegen Breakage Syndrome-Like Disorder	no	no	no	no	NA
MREG	HGNC:25478	MGI:2151839	-	-	yes	no	no	no	NA
MRGBP	HGNC:15866	MGI:1920497	-	-	yes	no	no	no	NA
MRGPRD	HGNC:29626	MGI:3033142	-	-	yes	no	no	no	NA
MRGPRE	HGNC:30694	MGI:2441884	-	-	yes	no	no	no	NA
MRGPRF	HGNC:24828	MGI:2384823	-	-	no	no	no	no	NA
MRGPRG	HGNC:24829	MGI:3033145	-	-	yes	no	no	no	NA
MRI1	HGNC:28469	MGI:1915123	-	-	yes	no	no	no	NA
MRM1	HGNC:26202	MGI:2443470	-	-	yes	no	no	no	NA
MRM2	HGNC:16352	MGI:1915267	OMIM:618567	Mitochondrial Dna Depletion Syndrome 17	yes	yes	yes	no	NA
MRM3	HGNC:18485	MGI:1914640	-	-	yes	no	no	no	NA
MRNIP	HGNC:30817	MGI:1915317	-	-	yes	no	no	no	NA
MRO	HGNC:24121	MGI:2152817	-	-	yes	no	no	no	NA
MROH1	HGNC:26958	MGI:2442558	-	-	no	no	no	no	NA
MROH2A	HGNC:27936	MGI:3705228	-	-	no	no	no	no	NA
MROH2B	HGNC:26857	MGI:1921905	-	-	yes	no	no	no	NA
MROH5	HGNC:42976	MGI:2685474	-	-	no	no	no	no	NA
MROH6	HGNC:27814	MGI:5011755	-	-	no	no	no	no	NA
MROH7	HGNC:24802	MGI:2685873	-	-	yes	no	no	no	NA
MROH8	HGNC:16125	MGI:3603828	-	-	no	no	no	no	NA
MROH9	HGNC:26287	MGI:1925508	-	-	yes	no	no	no	NA
MRPL1	HGNC:14275	MGI:2137202	-	-	no	no	no	no	NA
MRPL10	HGNC:14055	MGI:1333801	-	-	yes	no	no	no	NA
MRPL11	HGNC:14042	MGI:2137215	-	-	no	no	no	no	NA
MRPL12	HGNC:10378	MGI:1926273	OMIM:618951	Combined Oxidative Phosphorylation Deficiency 45	yes	yes	yes	no	NA
MRPL13	HGNC:14278	MGI:2137218	-	-	no	no	no	no	NA
MRPL14	HGNC:14279	MGI:1333864	-	-	no	no	no	no	NA
MRPL15	HGNC:14054	MGI:1351639	-	-	no	no	no	no	NA
MRPL16	HGNC:14476	MGI:2137219	-	-	no	no	no	no	NA
MRPL17	HGNC:14053	MGI:1351608	-	-	no	no	no	no	NA
MRPL18	HGNC:14477	MGI:1914931	-	-	yes	no	no	no	NA
MRPL19	HGNC:14052	MGI:1926274	-	-	no	no	no	no	NA
MRPL2	HGNC:14056	MGI:1351622	-	-	no	no	no	no	NA
MRPL20	HGNC:14478	MGI:2137221	-	-	no	no	no	no	NA
MRPL21	HGNC:14479	MGI:2660674	-	-	no	no	no	no	NA
MRPL22	HGNC:14480	MGI:1333794	-	-	yes	no	no	no	NA
MRPL23	HGNC:10322	MGI:1196612	-	-	yes	no	no	no	NA
MRPL24	HGNC:14037	MGI:1914957	-	-	no	no	no	no	NA
MRPL27	HGNC:14483	MGI:2137224	-	-	no	no	no	no	NA
MRPL28	HGNC:14484	MGI:1915861	-	-	no	no	no	no	NA
MRPL3	HGNC:10379	MGI:2137204	OMIM:614582|ORPHA:319509	Combined Oxidative Phosphorylation Deficiency 9|Combined Oxidative Phosphorylation Defect Type 9	yes	yes	yes	no	NA
MRPL30	HGNC:14036	MGI:1333820	-	-	no	no	no	no	NA
MRPL32	HGNC:14035	MGI:2137226	-	-	no	no	no	no	NA
MRPL33	HGNC:14487	MGI:2137225	-	-	yes	no	no	no	NA
MRPL34	HGNC:14488	MGI:2137227	-	-	no	no	no	no	NA
MRPL35	HGNC:14489	MGI:1913473	-	-	no	no	no	no	NA
MRPL36	HGNC:14490	MGI:2137228	-	-	no	no	no	no	NA
MRPL37	HGNC:14034	MGI:1926268	-	-	no	no	no	no	NA
MRPL38	HGNC:14033	MGI:1926269	-	-	no	no	no	no	NA
MRPL39	HGNC:14027	MGI:1351620	-	-	yes	no	no	no	NA
MRPL4	HGNC:14276	MGI:2137210	-	-	no	no	no	no	NA
MRPL40	HGNC:14491	MGI:1332635	-	-	no	no	no	no	NA
MRPL41	HGNC:14492	MGI:1333816	-	-	yes	no	no	no	NA
MRPL42	HGNC:14493	MGI:1333774	-	-	no	no	no	no	NA
MRPL43	HGNC:14517	MGI:2137229	-	-	no	no	no	no	NA
MRPL44	HGNC:16650	MGI:1916413	OMIM:615395|ORPHA:352563	Combined Oxidative Phosphorylation Deficiency 16|Infantile Hypertrophic Cardiomyopathy Due To Mrpl44 Deficiency	yes	yes	yes	no	NA
MRPL45	HGNC:16651	MGI:1914286	-	-	no	no	no	no	NA
MRPL46	HGNC:1192	MGI:1914558	-	-	no	no	no	no	NA
MRPL47	HGNC:16652	MGI:1921850	-	-	yes	no	no	no	NA
MRPL48	HGNC:16653	MGI:1289321	-	-	no	no	no	no	NA
MRPL49	HGNC:1176	MGI:108180	-	-	no	no	no	no	NA
MRPL50	HGNC:16654	MGI:107329	-	-	no	no	no	no	NA
MRPL51	HGNC:14044	MGI:1913743	-	-	yes	no	no	no	NA
MRPL52	HGNC:16655	MGI:1916086	-	-	no	no	no	no	NA
MRPL53	HGNC:16684	MGI:1915749	-	-	no	no	no	no	NA
MRPL54	HGNC:16685	MGI:1913297	-	-	yes	no	no	no	NA
MRPL55	HGNC:16686	MGI:1914462	-	-	no	no	no	no	NA
MRPL57	HGNC:14514	MGI:1915090	-	-	no	no	no	no	NA
MRPL58	HGNC:5359	MGI:1915822	-	-	yes	no	no	no	NA
MRPL9	HGNC:14277	MGI:2137211	-	-	no	no	no	no	NA
MRPS10	HGNC:14502	MGI:1928139	-	-	no	no	no	no	NA
MRPS11	HGNC:14050	MGI:1915244	-	-	no	no	no	no	NA
MRPS12	HGNC:10380	MGI:1346333	-	-	yes	no	no	no	NA
MRPS14	HGNC:14049	MGI:1928141	OMIM:618378	Combined Oxidative Phosphorylation Deficiency 38	no	no	no	no	NA
MRPS15	HGNC:14504	MGI:1913657	-	-	no	no	no	no	NA
MRPS16	HGNC:14048	MGI:1913492	OMIM:610498|ORPHA:254920	Combined Oxidative Phosphorylation Deficiency 2|Combined Oxidative Phosphorylation Defect Type 2	no	no	no	no	NA
MRPS17	HGNC:14047	MGI:1913508	-	-	no	no	no	no	NA
MRPS18A	HGNC:14515	MGI:1915815	-	-	no	no	no	no	NA
MRPS18B	HGNC:14516	MGI:1914223	-	-	no	no	no	no	NA
MRPS18C	HGNC:16633	MGI:1915985	-	-	yes	no	no	no	NA
MRPS2	HGNC:14495	MGI:2153089	OMIM:617950	Combined Oxidative Phosphorylation Deficiency 36	no	no	no	no	NA
MRPS21	HGNC:14046	MGI:1913542	-	-	yes	no	no	no	NA
MRPS22	HGNC:14508	MGI:1928137	OMIM:611719|OMIM:618117|ORPHA:243|ORPHA:137908	Combined Oxidative Phosphorylation Deficiency 5|Ovarian Dysgenesis 7|46,Xx Gonadal Dysgenesis|Hypotonia With Lactic Acidemia And Hyperammonemia	yes	yes	yes	yes	40.015
MRPS23	HGNC:14509	MGI:1928138	OMIM:618952	Combined Oxidative Phosphorylation Deficiency 46	no	no	no	no	NA
MRPS24	HGNC:14510	MGI:1928142	-	-	no	no	no	no	NA
MRPS25	HGNC:14511	MGI:1928140	OMIM:619025	Combined Oxidative Phosphorylation Deficiency 50	yes	yes	yes	no	NA
MRPS26	HGNC:14045	MGI:1333830	-	-	no	no	no	no	NA
MRPS27	HGNC:14512	MGI:1919064	-	-	no	no	no	no	NA
MRPS28	HGNC:14513	MGI:1913480	OMIM:618958	Combined Oxidative Phosphorylation Deficiency 47	no	no	no	no	NA
MRPS30	HGNC:8769	MGI:1926237	-	-	no	no	no	no	NA
MRPS31	HGNC:16632	MGI:1913153	-	-	no	no	no	no	NA
MRPS33	HGNC:16634	MGI:1338046	-	-	no	no	no	no	NA
MRPS34	HGNC:16618	MGI:1930188	OMIM:617664	Combined Oxidative Phosphorylation Deficiency 32	no	no	no	no	NA
MRPS35	HGNC:16635	MGI:2385255	-	-	yes	no	no	no	NA
MRPS5	HGNC:14498	MGI:1924971	-	-	yes	no	no	no	NA
MRPS6	HGNC:14051	MGI:2153111	-	-	no	no	no	no	NA
MRPS7	HGNC:14499	MGI:1354367	OMIM:617872|ORPHA:457223	Combined Oxidative Phosphorylation Deficiency 34|Syndromic Sensorineural Deafness Due To Combined Oxidative Phosphorylation Defect	no	no	no	no	NA
MRPS9	HGNC:14501	MGI:1916777	-	-	no	no	no	no	NA
MRRF	HGNC:7234	MGI:1915121	-	-	no	no	no	no	NA
MRS2	HGNC:13785	MGI:2685748	-	-	yes	no	no	no	NA
MRTFA	HGNC:14334	MGI:2384495	OMIM:618847|ORPHA:402023|ORPHA:619941	Immunodeficiency 66|Megakaryoblastic Acute Myeloid Leukemia With T(1;22)(P13;Q13)|Immune Deficiency Due To Impaired Neutrophil Phagocytosis And Migration	no	no	no	no	NA
MRTFB	HGNC:29819	MGI:3050795	-	-	no	no	no	no	NA
MRTO4	HGNC:18477	MGI:1917152	-	-	no	no	no	no	NA
MS4A1	HGNC:7315	MGI:88321	OMIM:613495|ORPHA:1572	Immunodeficiency, Common Variable, 5|Common Variable Immunodeficiency	no	no	no	no	NA
MS4A10	HGNC:13368	MGI:1917076	-	-	yes	no	no	no	NA
MS4A12	HGNC:13370	MGI:2685812	-	-	yes	no	no	no	NA
MS4A13	HGNC:16674	MGI:1920716	-	-	no	no	no	no	NA
MS4A14	HGNC:30706	MGI:2686122	-	-	no	no	no	no	NA
MS4A15	HGNC:28573	MGI:3617853	-	-	no	no	no	no	NA
MS4A18	HGNC:37636	MGI:1923252	-	-	no	no	no	no	NA
MS4A2	HGNC:7316	MGI:95495	-	-	yes	no	no	no	NA
MS4A3	HGNC:7317	MGI:2158468	-	-	yes	no	no	no	NA
MS4A5	HGNC:13374	MGI:2670985	-	-	no	no	no	no	NA
MS4A7	HGNC:13378	MGI:1918846	-	-	no	no	no	no	NA
MS4A8	HGNC:13380	MGI:1927657	-	-	no	no	no	no	NA
MSANTD1	HGNC:33741	MGI:2684990	-	-	yes	no	no	no	NA
MSANTD2	HGNC:26266	MGI:2384579	-	-	yes	no	no	no	NA
MSANTD3	HGNC:23370	MGI:1913915	-	-	yes	no	no	no	NA
MSANTD4	HGNC:29383	MGI:1925350	-	-	no	no	no	no	NA
MSANTD5	HGNC:55184	MGI:3650740	-	-	no	no	no	no	NA
MSC	HGNC:7321	MGI:1333884	-	-	no	no	no	no	NA
MSGN1	HGNC:14907	MGI:1860483	-	-	no	no	no	no	NA
MSH2	HGNC:7325	MGI:101816	OMIM:120435|OMIM:619096|OMIM:158320|ORPHA:587|ORPHA:252202|ORPHA:144	Lynch Syndrome 1|Mismatch Repair Cancer Syndrome 2|Muir-Torre Syndrome|Constitutional Mismatch Repair Deficiency Syndrome|Lynch Syndrome	no	no	no	no	NA
MSH3	HGNC:7326	MGI:109519	OMIM:608089|OMIM:617100|ORPHA:480536	Endometrial Cancer|Familial Adenomatous Polyposis 4|Msh3-Related Attenuated Familial Adenomatous Polyposis	yes	yes	yes	yes	30.455
MSH4	HGNC:7327	MGI:1860077	OMIM:619938|OMIM:108420|ORPHA:243	Premature Ovarian Failure 20|Spermatogenic Failure 2|46,Xx Gonadal Dysgenesis	no	no	no	no	NA
MSH5	HGNC:7328	MGI:1329021	OMIM:617442|OMIM:619937|ORPHA:619|ORPHA:399805	Premature Ovarian Failure 13|Spermatogenic Failure 74|Non Rare In Europe: Primary Ovarian Failure|Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	yes	yes	yes	no	NA
MSH6	HGNC:7329	MGI:1343961	OMIM:608089|OMIM:614350|OMIM:619097|ORPHA:587|ORPHA:252202|ORPHA:144	Endometrial Cancer|Lynch Syndrome 5|Mismatch Repair Cancer Syndrome 3|Muir-Torre Syndrome|Constitutional Mismatch Repair Deficiency Syndrome|Lynch Syndrome	no	no	no	no	NA
MSI1	HGNC:7330	MGI:107376	-	-	no	no	no	no	NA
MSI2	HGNC:18585	MGI:1923876	-	-	yes	no	no	no	NA
MSL1	HGNC:27905	MGI:1921276	-	-	yes	no	no	no	NA
MSL2	HGNC:25544	MGI:1925103	-	-	no	no	no	no	NA
MSL3	HGNC:7370	MGI:1341851	OMIM:301032	Basilicata-Akhtar Syndrome	yes	yes	yes	no	NA
MSLN	HGNC:7371	MGI:1888992	-	-	no	no	no	no	NA
MSLNL	HGNC:14170	MGI:3607710	-	-	yes	no	no	no	NA
MSMB	HGNC:7372	MGI:97166	OMIM:611928|ORPHA:1331	Prostate Cancer, Hereditary, 13|Familial Prostate Cancer	yes	yes	no	no	NA
MSMO1	HGNC:10545	MGI:1913484	OMIM:616834|ORPHA:488168	Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis|Microcephaly-Congenital Cataract-Psoriasiform Dermatitis Syndrome	yes	no	yes	no	NA
MSMP	HGNC:29663	MGI:3652339	-	-	no	no	no	no	NA
MSN	HGNC:7373	MGI:97167	OMIM:300988|ORPHA:504530	Immunodeficiency 50|Combined Immunodeficiency Due To Moesin Deficiency	yes	yes	yes	yes	54.175
MSR1	HGNC:7376	MGI:98257	OMIM:614266|ORPHA:1331	Barrett Esophagus|Familial Prostate Cancer	no	no	no	no	NA
MSRA	HGNC:7377	MGI:106916	-	-	no	no	no	no	NA
MSRB1	HGNC:14133	MGI:1351642	-	-	no	no	no	no	NA
MSRB2	HGNC:17061	MGI:1923717	-	-	no	no	no	no	NA
MSRB3	HGNC:27375	MGI:2443538	OMIM:613718|ORPHA:90636	Deafness, Autosomal Recessive 74|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	no	no	no	no	NA
MSS51	HGNC:21000	MGI:1922093	-	-	no	no	no	no	NA
MST1	HGNC:7380	MGI:96080	ORPHA:171	Primary Sclerosing Cholangitis	yes	no	yes	no	NA
MST1R	HGNC:7381	MGI:99614	OMIM:617075	Nasopharyngeal Carcinoma, Susceptibility To, 3	no	no	no	no	NA
MSTN	HGNC:4223	MGI:95691	OMIM:614160	Muscle Hypertrophy	no	no	no	no	NA
MSTO1	HGNC:29678	MGI:2385175	OMIM:617675|ORPHA:502423	Myopathy, Mitochondrial, And Ataxia|Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	yes	yes	yes	yes	19.105
MSX1	HGNC:7391	MGI:97168	OMIM:189500|OMIM:608874|OMIM:106600|ORPHA:199302|ORPHA:199306|ORPHA:141291|ORPHA:2228|ORPHA:2227|ORPHA:99798	Witkop Syndrome|Orofacial Cleft 5|Tooth Agenesis, Selective, 1|Isolated Cleft Lip|Cleft Lip/Palate|Cleft Lip And Alveolus|Hypodontia-Dysplasia Of Nails Syndrome|Non Rare In Europe: Hypodontia|Oligodontia	yes	yes	yes	yes	66.815
MSX2	HGNC:7392	MGI:97169	OMIM:604757|OMIM:168500|OMIM:168550|ORPHA:251290|ORPHA:1541|ORPHA:60015	Craniosynostosis 2|Parietal Foramina 1|Parietal Foramina With Cleidocranial Dysplasia|Parietal Foramina With Clavicular Hypoplasia|Craniosynostosis, Boston Type|Enlarged Parietal Foramina	no	no	no	no	NA
MT-ATP6	HGNC:7414	MGI:99927	ORPHA:104|ORPHA:644|ORPHA:155|ORPHA:254913|ORPHA:255210|ORPHA:225154|ORPHA:320360|ORPHA:397750	Leber Hereditary Optic Neuropathy|Narp Syndrome|Non Rare In Europe: Familial Isolated Hypertrophic Cardiomyopathy|Isolated Atp Synthase Deficiency|Mitochondrial Dna-Associated Leigh Syndrome|Familial Infantile Bilateral Striatal Necrosis|Mt-Atp6-Related Mitochondrial Spastic Paraplegia|Periodic Paralysis With Later-Onset Distal Motor Neuropathy	no	no	no	no	NA
MT-ATP8	HGNC:7415	MGI:99926	ORPHA:480|ORPHA:254913|ORPHA:397750	Kearns-Sayre Syndrome|Isolated Atp Synthase Deficiency|Periodic Paralysis With Later-Onset Distal Motor Neuropathy	no	no	no	no	NA
MT-CO1	HGNC:7419	MGI:102504	ORPHA:550|ORPHA:104|ORPHA:254905|ORPHA:90641|ORPHA:99845	Melas|Leber Hereditary Optic Neuropathy|Isolated Cytochrome C Oxidase Deficiency|Rare Mitochondrial Non-Syndromic Sensorineural Deafness|Genetic Recurrent Myoglobinuria	no	no	no	no	NA
MT-CO2	HGNC:7421	MGI:102503	ORPHA:550|ORPHA:254905	Melas|Isolated Cytochrome C Oxidase Deficiency	no	no	no	no	NA
MT-CO3	HGNC:7422	MGI:102502	ORPHA:550|ORPHA:104|ORPHA:254905|ORPHA:99845	Melas|Leber Hereditary Optic Neuropathy|Isolated Cytochrome C Oxidase Deficiency|Genetic Recurrent Myoglobinuria	no	no	no	no	NA
MT-CYB	HGNC:7427	MGI:102501	ORPHA:104|ORPHA:137675|ORPHA:1460	Leber Hereditary Optic Neuropathy|Histiocytoid Cardiomyopathy|Isolated Complex Iii Deficiency	no	no	no	no	NA
MT-ND1	HGNC:7455	MGI:101787	ORPHA:550|ORPHA:104|ORPHA:2609|ORPHA:255210	Melas|Leber Hereditary Optic Neuropathy|Isolated Complex I Deficiency|Mitochondrial Dna-Associated Leigh Syndrome	no	no	no	no	NA
MT-ND2	HGNC:7456	MGI:102500	ORPHA:104|ORPHA:2609|ORPHA:255210	Leber Hereditary Optic Neuropathy|Isolated Complex I Deficiency|Mitochondrial Dna-Associated Leigh Syndrome	no	no	no	no	NA
MT-ND3	HGNC:7458	MGI:102499	ORPHA:2609|ORPHA:255210|ORPHA:99718	Isolated Complex I Deficiency|Mitochondrial Dna-Associated Leigh Syndrome|Leber Plus Disease	no	no	no	no	NA
MT-ND4	HGNC:7459	MGI:102498	ORPHA:550|ORPHA:104|ORPHA:255210|ORPHA:90641|ORPHA:99718	Melas|Leber Hereditary Optic Neuropathy|Mitochondrial Dna-Associated Leigh Syndrome|Rare Mitochondrial Non-Syndromic Sensorineural Deafness|Leber Plus Disease	no	no	no	no	NA
MT-ND4L	HGNC:7460	MGI:102497	ORPHA:104	Leber Hereditary Optic Neuropathy	no	no	no	no	NA
MT-ND5	HGNC:7461	MGI:102496	ORPHA:550|ORPHA:551|ORPHA:104|ORPHA:255210	Melas|Merrf|Leber Hereditary Optic Neuropathy|Mitochondrial Dna-Associated Leigh Syndrome	no	no	no	no	NA
MT-ND6	HGNC:7462	MGI:102495	ORPHA:550|ORPHA:104|ORPHA:255210|ORPHA:99718	Melas|Leber Hereditary Optic Neuropathy|Mitochondrial Dna-Associated Leigh Syndrome|Leber Plus Disease	no	no	no	no	NA
MT3	HGNC:7408	MGI:97173	-	-	no	no	no	no	NA
MT4	HGNC:18705	MGI:99692	-	-	no	no	no	no	NA
MTA1	HGNC:7410	MGI:2150037	-	-	yes	no	no	no	NA
MTA2	HGNC:7411	MGI:1346340	-	-	no	no	no	no	NA
MTA3	HGNC:23784	MGI:2151172	-	-	yes	no	no	no	NA
MTAP	HGNC:7413	MGI:1914152	OMIM:112250|ORPHA:85182	Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma|Diaphyseal Medullary Stenosis-Bone Malignancy Syndrome	yes	yes	yes	yes	36.17
MTARC1	HGNC:26189	MGI:1913362	-	-	yes	no	no	no	NA
MTARC2	HGNC:26064	MGI:1914497	-	-	yes	no	no	no	NA
MTBP	HGNC:7417	MGI:2146005	-	-	no	no	no	no	NA
MTCH1	HGNC:17586	MGI:1929261	-	-	no	no	no	no	NA
MTCH2	HGNC:17587	MGI:1929260	-	-	yes	no	no	no	NA
MTCL1	HGNC:29121	MGI:1915867	-	-	no	no	no	no	NA
MTCL2	HGNC:16111	MGI:2444575	-	-	yes	no	no	no	NA
MTCL3	HGNC:21494	MGI:1914662	-	-	no	no	no	no	NA
MTCP1	HGNC:7423	MGI:102699	-	-	yes	no	no	no	NA
MTDH	HGNC:29608	MGI:1914404	-	-	no	no	no	no	NA
MTERF2	HGNC:30779	MGI:1921488	-	-	no	no	no	no	NA
MTERF3	HGNC:24258	MGI:1913660	-	-	no	no	no	no	NA
MTERF4	HGNC:28785	MGI:1918355	-	-	no	no	no	no	NA
MTF1	HGNC:7428	MGI:101786	-	-	yes	no	no	no	NA
MTF2	HGNC:29535	MGI:105050	-	-	no	no	no	no	NA
MTFMT	HGNC:29666	MGI:1916856	OMIM:614947|OMIM:618248|ORPHA:319524	Combined Oxidative Phosphorylation Deficiency 15|Mitochondrial Complex I Deficiency, Nuclear Type 27|Combined Oxidative Phosphorylation Defect Type 15	no	no	no	no	NA
MTFP1	HGNC:26945	MGI:1916686	-	-	no	no	no	no	NA
MTFR1	HGNC:29510	MGI:1914722	-	-	no	no	no	no	NA
MTFR1L	HGNC:28836	MGI:1924074	-	-	no	no	no	no	NA
MTFR2	HGNC:21115	MGI:1919054	-	-	no	no	no	no	NA
MTG1	HGNC:32159	MGI:2685015	-	-	yes	no	no	no	NA
MTG2	HGNC:16239	MGI:106565	-	-	yes	no	no	no	NA
MTHFD1	HGNC:7432	MGI:1342005	OMIM:617780|OMIM:601634	Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia|Neural Tube Defects, Folate-Sensitive	yes	yes	yes	yes	20.06
MTHFD1L	HGNC:21055	MGI:1924836	-	-	yes	no	no	no	NA
MTHFD2	HGNC:7434	MGI:1338850	-	-	yes	no	no	no	NA
MTHFD2L	HGNC:31865	MGI:1915871	-	-	yes	no	no	no	NA
MTHFR	HGNC:7436	MGI:106639	OMIM:236250|OMIM:181500|OMIM:188050|OMIM:601634|ORPHA:395|ORPHA:64738|ORPHA:563612|ORPHA:563609	Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity|Schizophrenia|Thrombophilia Due To Thrombin Defect|Neural Tube Defects, Folate-Sensitive|Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency|Non Rare In Europe: Non Rare Thrombophilia|Isolated Exencephaly|Isolated Anencephaly	no	no	no	no	NA
MTHFSD	HGNC:25778	MGI:2679252	-	-	no	no	no	no	NA
MTIF2	HGNC:7441	MGI:1924034	-	-	no	no	no	no	NA
MTIF3	HGNC:29788	MGI:1923616	-	-	yes	no	no	no	NA
MTLN	HGNC:27339	MGI:1915135	-	-	no	no	no	no	NA
MTM1	HGNC:7448	MGI:1099452	OMIM:310400|ORPHA:596|ORPHA:456328	Myopathy, Centronuclear, X-Linked|X-Linked Centronuclear Myopathy|X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	no	no	no	no	NA
MTMR1	HGNC:7449	MGI:1858271	-	-	yes	no	no	no	NA
MTMR10	HGNC:25999	MGI:2142292	-	-	no	no	no	no	NA
MTMR11	HGNC:24307	MGI:2652817	-	-	yes	no	no	no	NA
MTMR12	HGNC:18191	MGI:2443034	-	-	yes	no	no	no	NA
MTMR14	HGNC:26190	MGI:1916075	OMIM:160150|ORPHA:169189	Myopathy, Centronuclear, 1|Autosomal Dominant Centronuclear Myopathy	yes	yes	yes	yes	44.19
MTMR2	HGNC:7450	MGI:1924366	OMIM:601382|ORPHA:99955	Charcot-Marie-Tooth Disease, Type 4B1|Charcot-Marie-Tooth Disease Type 4B1	yes	yes	yes	no	NA
MTMR3	HGNC:7451	MGI:1921552	-	-	yes	no	no	no	NA
MTMR4	HGNC:7452	MGI:2180699	-	-	yes	no	no	no	NA
MTMR6	HGNC:7453	MGI:2145637	-	-	no	no	no	no	NA
MTMR7	HGNC:7454	MGI:1891693	-	-	yes	no	no	no	NA
MTMR9	HGNC:14596	MGI:2442842	-	-	no	no	no	no	NA
MTNAP1	HGNC:29601	MGI:106356	-	-	no	no	no	no	NA
MTNR1A	HGNC:7463	MGI:102967	-	-	no	no	no	no	NA
MTNR1B	HGNC:7464	MGI:2181726	OMIM:125853	Type 2 Diabetes Mellitus	yes	yes	yes	yes	64.67
MTO1	HGNC:19261	MGI:1915541	OMIM:614702|ORPHA:314637	Combined Oxidative Phosphorylation Deficiency 10|Mitochondrial Hypertrophic Cardiomyopathy With Lactic Acidosis Due To Mto1 Deficiency	no	no	no	no	NA
MTOR	HGNC:3942	MGI:1928394	OMIM:607341|OMIM:616638|ORPHA:269008|ORPHA:269001|ORPHA:457485|ORPHA:99802	Focal Cortical Dysplasia, Type Ii|Smith-Kingsmore Syndrome|Isolated Focal Cortical Dysplasia Type Iib|Isolated Focal Cortical Dysplasia Type Iia|Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome|Hemimegalencephaly	yes	yes	yes	no	NA
MTPAP	HGNC:25532	MGI:1914690	OMIM:613672|ORPHA:254343	Spastic Ataxia 4, Autosomal Recessive|Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	yes	yes	yes	yes	35.035
MTPN	HGNC:15667	MGI:99445	-	-	no	no	no	no	NA
MTR	HGNC:7468	MGI:894292	OMIM:250940|OMIM:601634|ORPHA:2170	Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type|Neural Tube Defects, Folate-Sensitive|Methylcobalamin Deficiency Type Cblg	no	no	no	no	NA
MTRES1	HGNC:17971	MGI:1915101	-	-	no	no	no	no	NA
MTREX	HGNC:18734	MGI:1919448	-	-	no	no	no	no	NA
MTRF1	HGNC:7469	MGI:2384815	-	-	yes	no	no	no	NA
MTRF1L	HGNC:21051	MGI:1918830	-	-	yes	no	no	no	NA
MTRFR	HGNC:26784	MGI:1919900	OMIM:613559|OMIM:615035|ORPHA:254930|ORPHA:320375	Combined Oxidative Phosphorylation Deficiency 7|Spastic Paraplegia 55, Autosomal Recessive|Combined Oxidative Phosphorylation Defect Type 7|Autosomal Recessive Spastic Paraplegia Type 55	no	no	no	no	NA
MTRR	HGNC:7473	MGI:1891037	OMIM:236270|OMIM:601634|ORPHA:2169	Homocystinuria-Megaloblastic Anemia, Cble Complementation Type|Neural Tube Defects, Folate-Sensitive|Methylcobalamin Deficiency Type Cble	yes	yes	yes	no	NA
MTSS1	HGNC:20443	MGI:2384818	-	-	no	no	no	no	NA
MTSS2	HGNC:25094	MGI:3039591	OMIM:620086	Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	yes	yes	yes	no	NA
MTTP	HGNC:7467	MGI:106926	OMIM:200100|ORPHA:14|ORPHA:426	Abetalipoproteinemia|Non Rare In Europe: Familial Hypobetalipoproteinemia	no	no	no	no	NA
MTURN	HGNC:25457	MGI:1915485	-	-	yes	no	no	no	NA
MTUS1	HGNC:29789	MGI:2142572	-	-	no	no	no	no	NA
MTUS2	HGNC:20595	MGI:1915388	-	-	no	no	no	no	NA
MTX1	HGNC:7504	MGI:103025	-	-	no	no	no	no	NA
MTX2	HGNC:7506	MGI:1859652	OMIM:619127|ORPHA:647667	Mandibuloacral Dysplasia Progeroid Syndrome|Mandibuloacral Dysplasia Associated To Mtx2	yes	yes	yes	yes	33.99
MTX3	HGNC:24812	MGI:2686040	-	-	no	no	no	no	NA
MUC1	HGNC:7508	MGI:97231	OMIM:174000|ORPHA:88949	Tubulointerstitial Kidney Disease, Autosomal Dominant, 2|Muc1-Related Autosomal Dominant Tubulointerstitial Kidney Disease	no	no	no	no	NA
MUC13	HGNC:7511	MGI:103190	-	-	no	no	no	no	NA
MUC15	HGNC:14956	MGI:2442110	-	-	no	no	no	no	NA
MUC16	HGNC:15582	MGI:1920982	-	-	no	no	no	no	NA
MUC17	HGNC:16800	MGI:1203527	-	-	no	no	no	no	NA
MUC2	HGNC:7512	MGI:1339364	-	-	no	no	no	no	NA
MUC20	HGNC:23282	MGI:2385039	-	-	no	no	no	no	NA
MUC3A	HGNC:7513	MGI:3588263	-	-	yes	no	no	no	NA
MUC4	HGNC:7514	MGI:2153525	-	-	no	no	no	no	NA
MUC5AC	HGNC:7515	MGI:104697	-	-	yes	no	no	no	NA
MUC5B	HGNC:7516	MGI:1921430	OMIM:178500|ORPHA:171700|ORPHA:2032|ORPHA:31740	Interstitial Lung Disease 2|Diffuse Panbronchiolitis|Idiopathic Pulmonary Fibrosis|Hypersensitivity Pneumonitis	yes	yes	yes	yes	36.225
MUC6	HGNC:7517	MGI:2663233	-	-	no	no	no	no	NA
MUCL3	HGNC:21666	MGI:2685476	ORPHA:171700	Diffuse Panbronchiolitis	no	no	no	no	NA
MUL1	HGNC:25762	MGI:1915600	-	-	yes	no	no	no	NA
MUS81	HGNC:29814	MGI:1918961	-	-	no	no	no	no	NA
MUSK	HGNC:7525	MGI:103581	OMIM:208150|OMIM:616325|ORPHA:994|ORPHA:98913	Fetal Akinesia Deformation Sequence 1|Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency|Fetal Akinesia Deformation Sequence|Postsynaptic Congenital Myasthenic Syndromes	no	no	no	no	NA
MUSTN1	HGNC:22144	MGI:1913425	-	-	yes	no	no	no	NA
MUTYH	HGNC:7527	MGI:1917853	OMIM:608456|OMIM:613659|ORPHA:247798	Familial Adenomatous Polyposis 2|Gastric Cancer|Mutyh-Related Attenuated Familial Adenomatous Polyposis	no	no	no	no	NA
MVB12A	HGNC:25153	MGI:1920961	-	-	no	no	no	no	NA
MVB12B	HGNC:23368	MGI:1919793	-	-	no	no	no	no	NA
MVD	HGNC:7529	MGI:2179327	OMIM:614714|ORPHA:79152	Porokeratosis 7, Multiple Types|Disseminated Superficial Actinic Porokeratosis	yes	yes	yes	no	NA
MVK	HGNC:7530	MGI:107624	OMIM:260920|OMIM:610377|OMIM:175900|ORPHA:29|ORPHA:343|ORPHA:735|ORPHA:79152	Hyper-Igd Syndrome|Mevalonic Aciduria|Porokeratosis 3, Multiple Types|Hyperimmunoglobulinemia D With Periodic Fever|Porokeratosis Of Mibelli|Disseminated Superficial Actinic Porokeratosis	yes	yes	yes	no	NA
MVP	HGNC:7531	MGI:1925638	-	-	no	no	no	no	NA
MXD1	HGNC:6761	MGI:96908	-	-	no	no	no	no	NA
MXD3	HGNC:14008	MGI:104987	-	-	yes	no	no	no	NA
MXD4	HGNC:13906	MGI:104991	-	-	yes	no	no	no	NA
MXI1	HGNC:7534	MGI:97245	OMIM:176807	Prostate Cancer	no	no	no	no	NA
MXRA7	HGNC:7541	MGI:1914872	-	-	yes	no	no	no	NA
MXRA8	HGNC:7542	MGI:1922011	-	-	yes	no	no	no	NA
MYADM	HGNC:7544	MGI:1355332	-	-	no	no	no	no	NA
MYADML2	HGNC:34548	MGI:1915765	-	-	yes	no	no	no	NA
MYB	HGNC:7545	MGI:97249	ORPHA:251671|ORPHA:86849|ORPHA:99861	Angiocentric Glioma|Acute Basophilic Leukemia|Precursor T-Cell Acute Lymphoblastic Leukemia	yes	yes	no	no	NA
MYBBP1A	HGNC:7546	MGI:106181	-	-	yes	no	no	no	NA
MYBL1	HGNC:7547	MGI:99925	-	-	no	no	no	no	NA
MYBL2	HGNC:7548	MGI:101785	-	-	yes	no	no	no	NA
MYBPC1	HGNC:7549	MGI:1336213	OMIM:614335|OMIM:618524|OMIM:614915|ORPHA:1146|ORPHA:137783|ORPHA:498693	Arthrogryposis, Distal, Type 1B|Congenital Myopathy 16|Lethal Congenital Contracture Syndrome 4|Distal Arthrogryposis Type 1|Lethal Congenital Contracture Syndrome Type 3|Mybpc1-Related Autosomal Recessive Non-Lethal Arthrogryposis Multiplex Congenita Syndrome	no	no	no	no	NA
MYBPC2	HGNC:7550	MGI:1336170	-	-	no	no	no	no	NA
MYBPC3	HGNC:7551	MGI:102844	OMIM:615396|OMIM:115197|ORPHA:154|ORPHA:155|ORPHA:54260	Left Ventricular Noncompaction 10|Cardiomyopathy, Familial Hypertrophic, 4|Familial Isolated Dilated Cardiomyopathy|Non Rare In Europe: Familial Isolated Hypertrophic Cardiomyopathy|Left Ventricular Noncompaction	yes	yes	yes	yes	51.505
MYBPH	HGNC:7552	MGI:1858196	-	-	no	no	no	no	NA
MYBPHL	HGNC:30434	MGI:1916003	-	-	yes	no	no	no	NA
MYC	HGNC:7553	MGI:97250	OMIM:113970|ORPHA:543|ORPHA:480541|ORPHA:99861	Burkitt Lymphoma|High Grade B-Cell Lymphoma With Myc And/ Or Bcl2 And/Or Bcl6 Rearrangement|Precursor T-Cell Acute Lymphoblastic Leukemia	yes	yes	yes	no	NA
MYCBP	HGNC:7554	MGI:1891750	-	-	no	no	no	no	NA
MYCBP2	HGNC:23386	MGI:2179432	-	-	yes	no	no	no	NA
MYCBPAP	HGNC:19677	MGI:2388726	-	-	no	no	no	no	NA
MYCL	HGNC:7555	MGI:96799	-	-	no	no	no	no	NA
MYCT1	HGNC:23172	MGI:1915882	-	-	yes	no	no	no	NA
MYD88	HGNC:7562	MGI:108005	OMIM:612260|OMIM:153600|ORPHA:183713|ORPHA:33226	Immunodeficiency 68|Macroglobulinemia, Waldenstrom, Susceptibility To, 1|Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency|Waldenström Macroglobulinemia	yes	yes	yes	no	NA
MYDGF	HGNC:16948	MGI:2156020	-	-	yes	no	no	no	NA
MYEF2	HGNC:17940	MGI:104592	-	-	yes	no	no	no	NA
MYF5	HGNC:7565	MGI:97252	OMIM:618155	Ophthalmoplegia, External, With Rib And Vertebral Anomalies	no	no	no	no	NA
MYF6	HGNC:7566	MGI:97253	ORPHA:169189	Autosomal Dominant Centronuclear Myopathy	no	no	no	no	NA
MYG1	HGNC:17590	MGI:1929864	-	-	no	no	no	no	NA
MYH1	HGNC:7567	MGI:1339711	-	-	yes	no	no	no	NA
MYH10	HGNC:7568	MGI:1930780	-	-	yes	no	no	no	NA
MYH11	HGNC:7569	MGI:102643	OMIM:132900|OMIM:619351|OMIM:619350|ORPHA:2241|ORPHA:229|ORPHA:91387|ORPHA:98829	Aortic Aneurysm, Familial Thoracic 4|Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2|Visceral Myopathy 2|Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome|Familial Aortic Dissection|Familial Thoracic Aortic Aneurysm And Aortic Dissection|Acute Myeloid Leukemia With Abnormal Bone Marrow Eosinophils Inv(16)(P13Q22) Or T(16;16)(P13;Q22)	no	no	no	no	NA
MYH13	HGNC:7571	MGI:1339967	-	-	yes	no	no	no	NA
MYH14	HGNC:23212	MGI:1919210	OMIM:614369|OMIM:600652|ORPHA:397744|ORPHA:90635	Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss|Deafness, Autosomal Dominant 4A|Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome|Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	yes	no	yes	no	NA
MYH15	HGNC:31073	MGI:3643515	-	-	yes	no	no	no	NA
MYH2	HGNC:7572	MGI:1339710	OMIM:605637|ORPHA:363677|ORPHA:79091	Congenital Myopathy 6 With Ophthalmoplegia|Childhood-Onset Autosomal Recessive Myopathy With External Ophthalmoplegia|Hereditary Inclusion Body Myopathy-Joint Contractures-Ophthalmoplegia Syndrome	yes	yes	yes	no	NA
MYH3	HGNC:7573	MGI:1339709	OMIM:193700|OMIM:618436|OMIM:178110|OMIM:618469|ORPHA:1146|ORPHA:1147|ORPHA:2053|ORPHA:2990|ORPHA:3275|ORPHA:65743	Arthrogryposis, Distal, Type 2A|Arthrogryposis, Distal, Type 2B3|Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A|Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B|Distal Arthrogryposis Type 1|Sheldon-Hall Syndrome|Freeman-Sheldon Syndrome|Autosomal Recessive Multiple Pterygium Syndrome|Spondylocarpotarsal Synostosis|Autosomal Dominant Multiple Pterygium Syndrome	no	no	no	no	NA
MYH4	HGNC:7574	MGI:1339713	-	-	no	no	no	no	NA
MYH6	HGNC:7576	MGI:97255	OMIM:614089|OMIM:613252|OMIM:613251|OMIM:614090|ORPHA:166282|ORPHA:154|ORPHA:155|ORPHA:99103	Atrial Septal Defect 3|Cardiomyopathy, Dilated, 1Ee|Cardiomyopathy, Familial Hypertrophic, 14|Sick Sinus Syndrome 3, Susceptibility To|Familial Sick Sinus Syndrome|Familial Isolated Dilated Cardiomyopathy|Non Rare In Europe: Familial Isolated Hypertrophic Cardiomyopathy|Atrial Septal Defect, Ostium Secundum Type	no	no	no	no	NA
MYH7	HGNC:7577	MGI:2155600	OMIM:613426|OMIM:192600|OMIM:608358|OMIM:255160|OMIM:160500|ORPHA:1880|ORPHA:154|ORPHA:155|ORPHA:324604|ORPHA:59135|ORPHA:54260|ORPHA:636970|ORPHA:636965	Cardiomyopathy, Dilated, 1S|Cardiomyopathy, Familial Hypertrophic, 1|Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant|Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive|Myopathy, Distal, 1|Ebstein Malformation Of The Tricuspid Valve|Familial Isolated Dilated Cardiomyopathy|Non Rare In Europe: Familial Isolated Hypertrophic Cardiomyopathy|Classic Multiminicore Myopathy|Laing Early-Onset Distal Myopathy|Left Ventricular Noncompaction|Autosomal Recessive Myosin Storage Myopathy|Autosomal Dominant Myosin Storage Myopathy	no	no	no	no	NA
MYH7B	HGNC:15906	MGI:3710243	ORPHA:54260	Left Ventricular Noncompaction	yes	yes	no	no	NA
MYH8	HGNC:7578	MGI:1339712	OMIM:608837|OMIM:158300|ORPHA:3377|ORPHA:319340	Carney Complex Variant|Arthrogryposis, Distal, Type 7|Trismus-Pseudocamptodactyly Syndrome|Carney Complex-Trismus-Pseudocamptodactyly Syndrome	yes	yes	yes	yes	28.88
MYH9	HGNC:7579	MGI:107717	OMIM:603622|OMIM:155100|ORPHA:182050|ORPHA:477742|ORPHA:90635	Deafness, Autosomal Dominant 17|Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss|Myh9-Related Disease|Nodular Fasciitis|Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	yes	yes	yes	no	NA
MYL1	HGNC:7582	MGI:97269	OMIM:618414|ORPHA:544602	Congenital Myopathy 14|Congenital Myopathy With Reduced Type 2 Muscle Fibers	no	no	no	no	NA
MYL10	HGNC:29825	MGI:1891705	-	-	yes	no	no	no	NA
MYL11	HGNC:29824	MGI:97273	OMIM:619110	Arthrogryposis, Distal, Type 1C	no	no	no	no	NA
MYL12A	HGNC:16701	MGI:1914518	-	-	no	no	no	no	NA
MYL12B	HGNC:29827	MGI:107494	-	-	yes	no	no	no	NA
MYL2	HGNC:7583	MGI:97272	OMIM:608758|OMIM:619424|ORPHA:2020|ORPHA:155	Cardiomyopathy, Familial Hypertrophic, 10|Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy|Congenital Fiber-Type Disproportion Myopathy|Non Rare In Europe: Familial Isolated Hypertrophic Cardiomyopathy	yes	yes	yes	yes	34.33
MYL3	HGNC:7584	MGI:97268	OMIM:608751|ORPHA:155	Cardiomyopathy, Familial Hypertrophic, 8|Non Rare In Europe: Familial Isolated Hypertrophic Cardiomyopathy	yes	yes	yes	no	NA
MYL4	HGNC:7585	MGI:97267	OMIM:617280|ORPHA:334	Atrial Fibrillation, Familial, 18|Familial Atrial Fibrillation	yes	yes	yes	no	NA
MYL6	HGNC:7587	MGI:109318	-	-	no	no	no	no	NA
MYL6B	HGNC:29823	MGI:1917789	-	-	no	no	no	no	NA
MYL7	HGNC:21719	MGI:107495	-	-	no	no	no	no	NA
MYL9	HGNC:15754	MGI:2138915	OMIM:619365	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	no	no	no	no	NA
MYLIP	HGNC:21155	MGI:2388271	ORPHA:426	Non Rare In Europe: Familial Hypobetalipoproteinemia	yes	yes	no	no	NA
MYLK	HGNC:7590	MGI:894806	OMIM:613780|OMIM:249210|ORPHA:2241|ORPHA:91387	Aortic Aneurysm, Familial Thoracic 7|Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1|Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome|Familial Thoracic Aortic Aneurysm And Aortic Dissection	no	no	no	no	NA
MYLK2	HGNC:16243	MGI:2139434	OMIM:192600|ORPHA:155	Cardiomyopathy, Familial Hypertrophic, 1|Non Rare In Europe: Familial Isolated Hypertrophic Cardiomyopathy	no	no	no	no	NA
MYLK3	HGNC:29826	MGI:2443063	-	-	no	no	no	no	NA
MYLK4	HGNC:27972	MGI:3643758	-	-	yes	no	no	no	NA
MYMK	HGNC:33778	MGI:1913389	OMIM:254940|ORPHA:1358	Carey-Fineman-Ziter Syndrome 1|Carey-Fineman-Ziter Syndrome	no	no	no	no	NA
MYMX	HGNC:52391	MGI:3649059	OMIM:619941|ORPHA:1358	Carey-Fineman-Ziter Syndrome 2|Carey-Fineman-Ziter Syndrome	no	no	no	no	NA
MYNN	HGNC:14955	MGI:1931415	-	-	yes	no	no	no	NA
MYO10	HGNC:7593	MGI:107716	-	-	yes	no	no	no	NA
MYO15A	HGNC:7594	MGI:1261811	OMIM:600316|ORPHA:90636	Deafness, Autosomal Recessive 3|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	yes	yes	yes	no	NA
MYO15B	HGNC:14083	MGI:2685534	-	-	no	no	no	no	NA
MYO16	HGNC:29822	MGI:2685951	-	-	no	no	no	no	NA
MYO18A	HGNC:31104	MGI:2667185	-	-	yes	no	no	no	NA
MYO18B	HGNC:18150	MGI:1921626	OMIM:616549|ORPHA:447974	Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism|Klippel-Feil Anomaly-Myopathy-Facial Dysmorphism Syndrome	yes	yes	yes	yes	13.21
MYO19	HGNC:26234	MGI:1913446	-	-	no	no	no	no	NA
MYO1A	HGNC:7595	MGI:107732	ORPHA:90635	Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	yes	yes	no	no	NA
MYO1B	HGNC:7596	MGI:107752	-	-	no	no	no	no	NA
MYO1C	HGNC:7597	MGI:106612	ORPHA:90635	Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	no	no	no	no	NA
MYO1D	HGNC:7598	MGI:107728	-	-	yes	no	no	no	NA
MYO1E	HGNC:7599	MGI:106621	OMIM:614131|ORPHA:656	Focal Segmental Glomerulosclerosis 6|Genetic Steroid-Resistant Nephrotic Syndrome	no	no	no	no	NA
MYO1F	HGNC:7600	MGI:107711	-	-	no	no	no	no	NA
MYO1G	HGNC:13880	MGI:1927091	-	-	yes	no	no	no	NA
MYO1H	HGNC:13879	MGI:1914674	OMIM:619482|ORPHA:661	Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction|Congenital Central Hypoventilation Syndrome	yes	yes	yes	yes	16.87
MYO3A	HGNC:7601	MGI:2183924	OMIM:607101|ORPHA:90636	Deafness, Autosomal Recessive 30|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	yes	yes	yes	yes	39.495
MYO3B	HGNC:15576	MGI:2448580	-	-	yes	no	no	no	NA
MYO5A	HGNC:7602	MGI:105976	OMIM:214450|ORPHA:33445|ORPHA:79478|ORPHA:79476	Griscelli Syndrome, Type 1|Neuroectodermal Melanolysosomal Disease|Griscelli Syndrome Type 3|Griscelli Syndrome Type 1	yes	yes	yes	yes	72.49
MYO5B	HGNC:7603	MGI:106598	OMIM:619868|OMIM:251850|ORPHA:2290|ORPHA:480491|ORPHA:79306	Cholestasis, Progressive Familial Intrahepatic, 10|Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis|Microvillus Inclusion Disease|Myo5B-Related Progressive Familial Intrahepatic Cholestasis|Progressive Familial Intrahepatic Cholestasis Type 1	no	no	no	no	NA
MYO5C	HGNC:7604	MGI:2442485	-	-	yes	no	no	no	NA
MYO6	HGNC:7605	MGI:104785	OMIM:606346|OMIM:607821|ORPHA:228012|ORPHA:90635|ORPHA:90636	Deafness, Autosomal Dominant 22|Deafness, Autosomal Recessive 37|Progressive Sensorineural Hearing Loss-Hypertrophic Cardiomyopathy Syndrome|Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	yes	yes	yes	yes	25.84
MYO7A	HGNC:7606	MGI:104510	OMIM:601317|OMIM:600060|OMIM:276900|ORPHA:231178|ORPHA:231169|ORPHA:90635|ORPHA:90636	Deafness, Autosomal Dominant 11|Deafness, Autosomal Recessive 2|Usher Syndrome, Type I|Usher Syndrome Type 2|Usher Syndrome Type 1|Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	yes	yes	yes	yes	29.02
MYO7B	HGNC:7607	MGI:107709	-	-	yes	no	no	no	NA
MYO9A	HGNC:7608	MGI:107735	OMIM:618198|ORPHA:98914	Myasthenic Syndrome, Congenital, 24, Presynaptic|Presynaptic Congenital Myasthenic Syndromes	yes	no	yes	no	NA
MYO9B	HGNC:7609	MGI:106624	OMIM:609753	Celiac Disease, Susceptibility To, 4	no	no	no	no	NA
MYOC	HGNC:7610	MGI:1202864	OMIM:137750|ORPHA:98976|ORPHA:98977	Glaucoma 1, Open Angle, A|Congenital Glaucoma|Juvenile Glaucoma	no	no	no	no	NA
MYOCD	HGNC:16067	MGI:2137495	OMIM:618719	Megabladder, Congenital	no	no	no	no	NA
MYOD1	HGNC:7611	MGI:97275	OMIM:618975|ORPHA:994	Congenital Myopathy 17|Fetal Akinesia Deformation Sequence	no	no	no	no	NA
MYOF	HGNC:3656	MGI:1919192	OMIM:619366|ORPHA:599418	Angioedema, Hereditary, 7|Hereditary Angioedema With Normal C1Inh Not Related To F12 Or Plg Variant	yes	no	yes	no	NA
MYOG	HGNC:7612	MGI:97276	-	-	no	no	no	no	NA
MYOM1	HGNC:7613	MGI:1341430	-	-	yes	no	no	no	NA
MYOM2	HGNC:7614	MGI:1328358	-	-	yes	no	no	no	NA
MYOM3	HGNC:26679	MGI:2685280	-	-	yes	no	no	no	NA
MYORG	HGNC:19918	MGI:2140300	OMIM:618317|ORPHA:1980	Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive|Bilateral Striopallidodentate Calcinosis	yes	yes	yes	no	NA
MYOT	HGNC:12399	MGI:1889800	OMIM:609200|ORPHA:268129|ORPHA:266|ORPHA:98911	Myopathy, Myofibrillar, 3|Spheroid Body Myopathy|Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A|Distal Myotilinopathy	no	no	no	no	NA
MYOZ1	HGNC:13752	MGI:1929471	-	-	yes	no	no	no	NA
MYOZ2	HGNC:1330	MGI:1913063	OMIM:613838|ORPHA:155	Cardiomyopathy, Familial Hypertrophic, 16|Non Rare In Europe: Familial Isolated Hypertrophic Cardiomyopathy	no	no	no	no	NA
MYOZ3	HGNC:18565	MGI:2179296	-	-	no	no	no	no	NA
MYPN	HGNC:23246	MGI:1916052	OMIM:615248|OMIM:617336|ORPHA:171439|ORPHA:154|ORPHA:155|ORPHA:171881|ORPHA:75249	Cardiomyopathy, Dilated, 1Kk|Congenital Myopathy 24|Childhood-Onset Nemaline Myopathy|Familial Isolated Dilated Cardiomyopathy|Non Rare In Europe: Familial Isolated Hypertrophic Cardiomyopathy|Cap Myopathy|Familial Isolated Restrictive Cardiomyopathy	yes	yes	yes	yes	32.035
MYPOP	HGNC:20178	MGI:2446472	-	-	no	no	no	no	NA
MYRF	HGNC:1181	MGI:2684944	OMIM:618280|OMIM:618113|ORPHA:647811	Cardiac-Urogenital Syndrome|Encephalitis/Encephalopathy, Mild, With Reversible Myelin Vacuolization	yes	yes	yes	yes	12.785
MYRFL	HGNC:26316	MGI:2685085	-	-	yes	no	no	no	NA
MYRIP	HGNC:19156	MGI:2384407	-	-	yes	no	no	no	NA
MYSM1	HGNC:29401	MGI:2444584	OMIM:618116|ORPHA:508542	Bone Marrow Failure Syndrome 4|Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	yes	yes	yes	yes	48.685
MYT1	HGNC:7622	MGI:1100535	-	-	no	no	no	no	NA
MYT1L	HGNC:7623	MGI:1100511	OMIM:616521|ORPHA:647799	Intellectual Developmental Disorder, Autosomal Dominant 39|Myt1L-Related Developmental Delay-Intellectual Disability-Obesity Syndrome	yes	yes	yes	no	NA
MYZAP	HGNC:43444	MGI:2142908	-	-	yes	no	no	no	NA
MZB1	HGNC:30125	MGI:1917066	-	-	yes	no	no	no	NA
MZF1	HGNC:13108	MGI:107457	-	-	no	no	no	no	NA
MZT1	HGNC:33830	MGI:1924039	-	-	no	no	no	no	NA
N4BP1	HGNC:29850	MGI:2136825	-	-	no	no	no	no	NA
N4BP2	HGNC:29851	MGI:2684414	-	-	no	no	no	no	NA
N4BP2L1	HGNC:25037	MGI:2140872	-	-	no	no	no	no	NA
N4BP2L2	HGNC:26916	MGI:2687207	-	-	no	no	no	no	NA
N4BP3	HGNC:29852	MGI:2442218	-	-	yes	no	no	no	NA
N6AMT1	HGNC:16021	MGI:1915018	-	-	no	no	no	no	NA
NAA10	HGNC:18704	MGI:1915255	OMIM:309800|OMIM:300855|ORPHA:568|ORPHA:276432	Microphthalmia, Syndromic 1|Ogden Syndrome|Microphthalmia, Lenz Type	yes	yes	yes	yes	50.63
NAA15	HGNC:30782	MGI:1922088	OMIM:617787	Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	no	no	no	no	NA
NAA16	HGNC:26164	MGI:1914147	-	-	yes	no	no	no	NA
NAA20	HGNC:15908	MGI:1915127	OMIM:619717|ORPHA:88616	Intellectual Developmental Disorder, Autosomal Recessive 73|Autosomal Recessive Non-Syndromic Intellectual Disability	no	no	no	no	NA
NAA25	HGNC:25783	MGI:2442563	-	-	yes	no	no	no	NA
NAA30	HGNC:19844	MGI:1922259	-	-	no	no	no	no	NA
NAA35	HGNC:24340	MGI:1925939	-	-	yes	no	no	no	NA
NAA38	HGNC:28212	MGI:1925554	-	-	yes	no	no	no	NA
NAA40	HGNC:25845	MGI:1918249	-	-	no	no	no	no	NA
NAA50	HGNC:29533	MGI:1919367	-	-	yes	no	no	no	NA
NAA60	HGNC:25875	MGI:1922013	-	-	no	no	no	no	NA
NAA80	HGNC:30252	MGI:1888902	-	-	no	no	no	no	NA
NAAA	HGNC:736	MGI:1914361	-	-	yes	no	no	no	NA
NAALAD2	HGNC:14526	MGI:1919810	-	-	no	no	no	no	NA
NAALADL1	HGNC:23536	MGI:2685810	-	-	no	no	no	no	NA
NAALADL2	HGNC:23219	MGI:2685867	-	-	yes	no	no	no	NA
NAB1	HGNC:7626	MGI:107564	-	-	yes	no	no	no	NA
NAB2	HGNC:7627	MGI:107563	ORPHA:2126	Solitary Fibrous Tumor	yes	yes	yes	yes	29.19
NABP1	HGNC:26232	MGI:1923258	ORPHA:520	Acute Promyelocytic Leukemia	no	no	no	no	NA
NABP2	HGNC:28412	MGI:1917167	-	-	yes	no	no	no	NA
NACA	HGNC:7629	MGI:106095	-	-	no	no	no	no	NA
NACAD	HGNC:22196	MGI:3603030	-	-	yes	no	no	no	NA
NACC1	HGNC:20967	MGI:1914080	OMIM:617393|ORPHA:500545	Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination|Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract	yes	yes	yes	yes	30.425
NACC2	HGNC:23846	MGI:1915241	-	-	yes	no	no	no	NA
NADK	HGNC:29831	MGI:2183149	-	-	yes	no	no	no	NA
NADK2	HGNC:26404	MGI:1915896	OMIM:616034|ORPHA:431361	2,4-Dienoyl-Coa Reductase Deficiency|Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	yes	yes	yes	yes	21.605
NADSYN1	HGNC:29832	MGI:1926164	OMIM:618845|ORPHA:521438	Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3|Congenital Vertebral-Cardiac-Renal Anomalies Syndrome	yes	yes	yes	no	NA
NAE1	HGNC:621	MGI:2384561	OMIM:620210	Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	yes	yes	yes	yes	26.84
NAF1	HGNC:25126	MGI:2682306	OMIM:620365	Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	no	no	no	no	NA
NAGA	HGNC:7631	MGI:1261422	OMIM:609242|OMIM:609241|ORPHA:79279|ORPHA:79280|ORPHA:79281	Kanzaki Disease|Schindler Disease, Type I|Alpha-N-Acetylgalactosaminidase Deficiency Type 1|Alpha-N-Acetylgalactosaminidase Deficiency Type 2|Alpha-N-Acetylgalactosaminidase Deficiency Type 3	yes	yes	yes	no	NA
NAGK	HGNC:17174	MGI:1860418	-	-	yes	no	no	no	NA
NAGLU	HGNC:7632	MGI:1351641	OMIM:616491|OMIM:252920|ORPHA:447964|ORPHA:79270	Charcot-Marie-Tooth Disease, Axonal, Type 2V|Mucopolysaccharidosis, Type Iiib|Autosomal Dominant Charcot-Marie-Tooth Disease Type 2V|Sanfilippo Syndrome Type B	no	no	no	no	NA
NAGPA	HGNC:17378	MGI:1351598	-	-	no	no	no	no	NA
NAGS	HGNC:17996	MGI:2387600	OMIM:237310|ORPHA:927	N-Acetylglutamate Synthase Deficiency|Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	no	no	no	no	NA
NAIF1	HGNC:25446	MGI:1918504	-	-	no	no	no	no	NA
NALCN	HGNC:19082	MGI:2444306	OMIM:616266|OMIM:615419|ORPHA:1146|ORPHA:1147|ORPHA:2053|ORPHA:371364|ORPHA:562528	Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay|Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1|Distal Arthrogryposis Type 1|Sheldon-Hall Syndrome|Freeman-Sheldon Syndrome|Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome|Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	yes	yes	yes	yes	49.705
NALF1	HGNC:33877	MGI:2142765	-	-	yes	no	no	no	NA
NALF2	HGNC:30701	MGI:3648377	-	-	no	no	no	no	NA
NAMPT	HGNC:30092	MGI:1929865	-	-	yes	no	no	no	NA
NANOS1	HGNC:23044	MGI:2669254	OMIM:615413|ORPHA:399805	Spermatogenic Failure 12|Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	no	no	no	no	NA
NANOS2	HGNC:23292	MGI:2676627	-	-	yes	no	no	no	NA
NANOS3	HGNC:22048	MGI:2675387	-	-	no	no	no	no	NA
NANP	HGNC:16140	MGI:1914561	-	-	yes	no	no	no	NA
NANS	HGNC:19237	MGI:2149820	OMIM:610442|ORPHA:168454	Spondyloepimetaphyseal Dysplasia, Genevieve Type|Spondyloepimetaphyseal Dysplasia, Geneviève Type	yes	yes	yes	no	NA
NAP1L1	HGNC:7637	MGI:1855693	-	-	no	no	no	no	NA
NAP1L2	HGNC:7638	MGI:106654	-	-	no	no	no	no	NA
NAP1L3	HGNC:7639	MGI:1859565	-	-	yes	no	no	no	NA
NAP1L4	HGNC:7640	MGI:1316687	-	-	no	no	no	no	NA
NAP1L5	HGNC:19968	MGI:1923555	-	-	yes	no	no	no	NA
NAPA	HGNC:7641	MGI:104563	-	-	no	no	no	no	NA
NAPB	HGNC:15751	MGI:104562	OMIM:620033	Developmental And Epileptic Encephalopathy 107	yes	yes	yes	yes	39.325
NAPEPLD	HGNC:21683	MGI:2140885	-	-	no	no	no	no	NA
NAPG	HGNC:7642	MGI:104561	-	-	no	no	no	no	NA
NAPRT	HGNC:30450	MGI:2442664	-	-	no	no	no	no	NA
NAPSA	HGNC:13395	MGI:109365	-	-	no	no	no	no	NA
NARF	HGNC:29916	MGI:1914858	-	-	no	no	no	no	NA
NARS1	HGNC:7643	MGI:1917473	OMIM:619091|OMIM:619092	Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities|Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	yes	yes	yes	no	NA
NARS2	HGNC:26274	MGI:2142075	OMIM:618434|OMIM:616239|ORPHA:444458|ORPHA:79134|ORPHA:90636	Deafness, Autosomal Recessive 94|Combined Oxidative Phosphorylation Deficiency 24|Combined Oxidative Phosphorylation Defect Type 24|Dend Syndrome|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	yes	yes	yes	no	NA
NASP	HGNC:7644	MGI:1355328	-	-	no	no	no	no	NA
NAT10	HGNC:29830	MGI:2138939	-	-	yes	no	no	no	NA
NAT14	HGNC:28918	MGI:3039561	-	-	yes	no	no	no	NA
NAT8L	HGNC:26742	MGI:2447776	OMIM:614063	N-Acetylaspartate Deficiency	no	no	no	no	NA
NAT9	HGNC:23133	MGI:1913426	-	-	no	no	no	no	NA
NATD1	HGNC:30770	MGI:1344388	-	-	yes	no	no	no	NA
NAV1	HGNC:15989	MGI:2183683	-	-	yes	no	no	no	NA
NAV2	HGNC:15997	MGI:2183691	-	-	yes	no	no	no	NA
NAV3	HGNC:15998	MGI:2183703	-	-	yes	no	no	no	NA
NAXD	HGNC:25576	MGI:1913353	OMIM:618321|ORPHA:555402	Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2|Nad(P)Hx Dehydratase Deficiency	no	no	no	no	NA
NAXE	HGNC:18453	MGI:2180167	OMIM:617186|ORPHA:555407	Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1|Nad(P)Hx Epimerase Deficiency	yes	yes	yes	yes	27.23
NBAS	HGNC:15625	MGI:1918419	OMIM:616483|OMIM:614800|ORPHA:464724|ORPHA:391677	Infantile Liver Failure Syndrome 2|Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly|Fever-Associated Acute Infantile Liver Failure Syndrome|Short Stature-Optic Atrophy-Pelger-Huët Anomaly Syndrome	yes	yes	yes	yes	42.5
NBEA	HGNC:7648	MGI:1347075	OMIM:619157|ORPHA:178469	Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy|Autosomal Dominant Non-Syndromic Intellectual Disability	yes	yes	yes	no	NA
NBEAL1	HGNC:20681	MGI:2444343	-	-	yes	no	no	no	NA
NBEAL2	HGNC:31928	MGI:2448554	OMIM:139090|ORPHA:721	Gray Platelet Syndrome	yes	yes	yes	yes	59.715
NBL1	HGNC:7650	MGI:104591	-	-	no	no	no	no	NA
NBN	HGNC:7652	MGI:1351625	OMIM:609135|OMIM:613065|OMIM:251260|ORPHA:1331|ORPHA:647|ORPHA:145	Aplastic Anemia|Leukemia, Acute Lymphoblastic|Nijmegen Breakage Syndrome|Familial Prostate Cancer|Hereditary Breast And/Or Ovarian Cancer Syndrome	no	no	no	no	NA
NBR1	HGNC:6746	MGI:108498	-	-	yes	no	no	no	NA
NCALD	HGNC:7655	MGI:1196326	-	-	yes	no	no	no	NA
NCAM1	HGNC:7656	MGI:97281	-	-	yes	no	no	no	NA
NCAM2	HGNC:7657	MGI:97282	-	-	yes	no	no	no	NA
NCAN	HGNC:2465	MGI:104694	-	-	no	no	no	no	NA
NCAPD2	HGNC:24305	MGI:1915548	OMIM:617983	Microcephaly 21, Primary, Autosomal Recessive	yes	no	yes	no	NA
NCAPD3	HGNC:28952	MGI:2142989	OMIM:617984|ORPHA:2512	Microcephaly 22, Primary, Autosomal Recessive|Autosomal Recessive Primary Microcephaly	yes	yes	yes	no	NA
NCAPG	HGNC:24304	MGI:1930197	-	-	no	no	no	no	NA
NCAPG2	HGNC:21904	MGI:1923294	OMIM:618460	Khan-Khan-Katsanis Syndrome	no	no	no	no	NA
NCAPH	HGNC:1112	MGI:2444777	OMIM:617985	Microcephaly 23, Primary, Autosomal Recessive	yes	no	yes	no	NA
NCAPH2	HGNC:25071	MGI:1289164	-	-	yes	no	no	no	NA
NCBP1	HGNC:7658	MGI:1891840	-	-	yes	no	no	no	NA
NCBP2	HGNC:7659	MGI:1915342	-	-	yes	no	no	no	NA
NCBP2AS2	HGNC:25121	MGI:1913301	-	-	no	no	no	no	NA
NCBP3	HGNC:24612	MGI:1914124	-	-	yes	no	no	no	NA
NCCRP1	HGNC:33739	MGI:2685009	-	-	no	no	no	no	NA
NCDN	HGNC:17597	MGI:1347351	OMIM:619373|ORPHA:88616	Neurodevelopmental Disorder With Infantile Epileptic Spasms|Autosomal Recessive Non-Syndromic Intellectual Disability	no	no	no	no	NA
NCEH1	HGNC:29260	MGI:2443191	-	-	no	no	no	no	NA
NCF1	HGNC:7660	MGI:97283	OMIM:233700|ORPHA:904|ORPHA:379	Granulomatous Disease, Chronic, Autosomal Recessive, 1|Williams Syndrome|Chronic Granulomatous Disease	yes	yes	yes	yes	43.315
NCF2	HGNC:7661	MGI:97284	OMIM:233710|ORPHA:379	Granulomatous Disease, Chronic, Autosomal Recessive, 2|Chronic Granulomatous Disease	yes	yes	yes	yes	29.665
NCF4	HGNC:7662	MGI:109186	OMIM:613960|ORPHA:206|ORPHA:379	Granulomatous Disease, Chronic, Autosomal Recessive, 3|Non Rare In Europe: Crohn Disease|Chronic Granulomatous Disease	yes	yes	yes	yes	29.03
NCK1	HGNC:7664	MGI:109601	-	-	yes	no	no	no	NA
NCK2	HGNC:7665	MGI:1306821	-	-	no	no	no	no	NA
NCKAP1	HGNC:7666	MGI:1355333	-	-	no	no	no	no	NA
NCKAP1L	HGNC:4862	MGI:1926063	OMIM:618982|ORPHA:619953	Immunodeficiency 72 With Autoinflammation And Lymphoproliferation|Familial Hyperinflammatory Lymphoproliferative Immunodeficiency	no	no	no	no	NA
NCKAP5	HGNC:29847	MGI:2686394	-	-	yes	no	no	no	NA
NCKAP5L	HGNC:29321	MGI:3609653	-	-	no	no	no	no	NA
NCKIPSD	HGNC:15486	MGI:1931834	-	-	no	no	no	no	NA
NCL	HGNC:7667	MGI:97286	-	-	no	no	no	no	NA
NCLN	HGNC:26923	MGI:1926081	-	-	no	no	no	no	NA
NCMAP	HGNC:29332	MGI:2444888	-	-	yes	no	no	no	NA
NCOA1	HGNC:7668	MGI:1276523	-	-	yes	no	no	no	NA
NCOA2	HGNC:7669	MGI:1276533	-	-	yes	no	no	no	NA
NCOA3	HGNC:7670	MGI:1276535	-	-	yes	no	no	no	NA
NCOA4	HGNC:7671	MGI:1350932	ORPHA:146	Differentiated Thyroid Carcinoma	no	no	no	no	NA
NCOA5	HGNC:15909	MGI:2385165	-	-	yes	no	no	no	NA
NCOA6	HGNC:15936	MGI:1929915	-	-	yes	no	no	no	NA
NCOA7	HGNC:21081	MGI:2444847	-	-	yes	no	no	no	NA
NCOR1	HGNC:7672	MGI:1349717	-	-	no	no	no	no	NA
NCOR2	HGNC:7673	MGI:1337080	-	-	yes	no	no	no	NA
NCR1	HGNC:6731	MGI:1336212	-	-	no	no	no	no	NA
NCS1	HGNC:3953	MGI:109166	-	-	yes	no	no	no	NA
NCSTN	HGNC:17091	MGI:1891700	OMIM:142690|ORPHA:387	Acne Inversa, Familial, 1|Non Rare In Europe: Hidradenitis Suppurativa	no	no	no	no	NA
NDC1	HGNC:25525	MGI:1920037	-	-	no	no	no	no	NA
NDC80	HGNC:16909	MGI:1914302	-	-	yes	no	no	no	NA
NDE1	HGNC:17619	MGI:1914453	OMIM:614019|OMIM:605013|ORPHA:2177|ORPHA:443162|ORPHA:89844	Lissencephaly 4|Microhydranencephaly|Hydranencephaly|Nde1-Related Microhydranencephaly|Lissencephaly Syndrome, Norman-Roberts Type	no	no	no	no	NA
NDEL1	HGNC:17620	MGI:1932915	-	-	yes	no	no	no	NA
NDFIP1	HGNC:17592	MGI:1929601	-	-	no	no	no	no	NA
NDFIP2	HGNC:18537	MGI:1923523	-	-	yes	no	no	no	NA
NDN	HGNC:7675	MGI:97290	ORPHA:177901|ORPHA:177904|ORPHA:177910|ORPHA:98754	Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1|Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2|Prader-Willi Syndrome Due To Imprinting Mutation|Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	no	no	no	no	NA
NDNF	HGNC:26256	MGI:1915419	OMIM:618841|ORPHA:478	Hypogonadotropic Hypogonadism 25 With Anosmia|Kallmann Syndrome	no	no	no	no	NA
NDOR1	HGNC:29838	MGI:1926047	-	-	no	no	no	no	NA
NDP	HGNC:7678	MGI:102570	OMIM:305390|OMIM:310600|ORPHA:649|ORPHA:190|ORPHA:891|ORPHA:90050|ORPHA:91495	Exudative Vitreoretinopathy 2, X-Linked|Norrie Disease|Coats Disease|Familial Exudative Vitreoretinopathy|Retinopathy Of Prematurity|Persistent Hyperplastic Primary Vitreous	no	no	no	no	NA
NDRG1	HGNC:7679	MGI:1341799	OMIM:601455|ORPHA:99950	Charcot-Marie-Tooth Disease, Type 4D|Charcot-Marie-Tooth Disease Type 4D	yes	yes	yes	yes	46.56
NDRG2	HGNC:14460	MGI:1352498	-	-	no	no	no	no	NA
NDRG3	HGNC:14462	MGI:1352499	-	-	yes	no	no	no	NA
NDRG4	HGNC:14466	MGI:2384590	-	-	yes	no	no	no	NA
NDST1	HGNC:7680	MGI:104719	OMIM:616116|ORPHA:88616	Intellectual Developmental Disorder, Autosomal Recessive 46|Autosomal Recessive Non-Syndromic Intellectual Disability	no	no	no	no	NA
NDST2	HGNC:7681	MGI:97040	-	-	no	no	no	no	NA
NDST3	HGNC:7682	MGI:1932544	-	-	no	no	no	no	NA
NDST4	HGNC:20779	MGI:1932545	-	-	no	no	no	no	NA
NDUFA1	HGNC:7683	MGI:1929511	OMIM:301020|ORPHA:2609	Mitochondrial Complex I Deficiency, Nuclear Type 12|Isolated Complex I Deficiency	no	no	no	no	NA
NDUFA10	HGNC:7684	MGI:1914523	OMIM:618243	Mitochondrial Complex I Deficiency, Nuclear Type 22	yes	yes	yes	no	NA
NDUFA11	HGNC:20371	MGI:1917125	OMIM:618236|ORPHA:2609	Mitochondrial Complex I Deficiency, Nuclear Type 14|Isolated Complex I Deficiency	yes	yes	yes	no	NA
NDUFA12	HGNC:23987	MGI:1913664	OMIM:618244	Mitochondrial Complex I Deficiency, Nuclear Type 23	yes	no	yes	no	NA
NDUFA13	HGNC:17194	MGI:1914434	OMIM:618249|OMIM:607464|ORPHA:146	Mitochondrial Complex I Deficiency, Nuclear Type 28|Thyroid Carcinoma, Hurthle Cell|Differentiated Thyroid Carcinoma	no	no	no	no	NA
NDUFA2	HGNC:7685	MGI:1343103	OMIM:618235|ORPHA:85136	Mitochondrial Complex I Deficiency, Nuclear Type 13|Cystic Leukoencephalopathy Without Megalencephaly	no	no	no	no	NA
NDUFA3	HGNC:7686	MGI:1913341	-	-	no	no	no	no	NA
NDUFA4	HGNC:7687	MGI:107686	OMIM:619065	Mitochondrial Complex Iv Deficiency, Nuclear Type 21	no	no	no	no	NA
NDUFA4L2	HGNC:29836	MGI:3039567	-	-	no	no	no	no	NA
NDUFA5	HGNC:7688	MGI:1915452	-	-	no	no	no	no	NA
NDUFA6	HGNC:7690	MGI:1914380	OMIM:618253|ORPHA:2609	Mitochondrial Complex I Deficiency, Nuclear Type 33|Isolated Complex I Deficiency	yes	yes	yes	yes	19.8
NDUFA7	HGNC:7691	MGI:1913666	-	-	yes	no	no	no	NA
NDUFA8	HGNC:7692	MGI:1915625	OMIM:619272	Mitochondrial Complex I Deficiency, Nuclear Type 37	yes	yes	yes	yes	44.06
NDUFA9	HGNC:7693	MGI:1913358	OMIM:618247	Mitochondrial Complex I Deficiency, Nuclear Type 26	yes	yes	yes	no	NA
NDUFAB1	HGNC:7694	MGI:1917566	-	-	no	no	no	no	NA
NDUFAF1	HGNC:18828	MGI:1916952	OMIM:618234|ORPHA:2609	Mitochondrial Complex I Deficiency, Nuclear Type 11|Isolated Complex I Deficiency	no	no	no	no	NA
NDUFAF2	HGNC:28086	MGI:1922847	OMIM:618233|ORPHA:2609	Mitochondrial Complex I Deficiency, Nuclear Type 10|Isolated Complex I Deficiency	no	no	no	no	NA
NDUFAF3	HGNC:29918	MGI:1913956	OMIM:618240|ORPHA:2609	Mitochondrial Complex I Deficiency, Nuclear Type 18|Isolated Complex I Deficiency	no	no	no	no	NA
NDUFAF4	HGNC:21034	MGI:1915743	OMIM:618237|ORPHA:2609	Mitochondrial Complex I Deficiency, Nuclear Type 15|Isolated Complex I Deficiency	no	no	no	no	NA
NDUFAF5	HGNC:15899	MGI:1916737	OMIM:618238|ORPHA:2609	Mitochondrial Complex I Deficiency, Nuclear Type 16|Isolated Complex I Deficiency	no	no	no	no	NA
NDUFAF6	HGNC:28625	MGI:1924197	OMIM:618913|OMIM:618239|ORPHA:3337	Fanconi Renotubular Syndrome 5|Mitochondrial Complex I Deficiency, Nuclear Type 17|Primary Fanconi Renotubular Syndrome	yes	yes	yes	yes	20.135
NDUFAF7	HGNC:28816	MGI:1920944	-	-	no	no	no	no	NA
NDUFAF8	HGNC:33551	MGI:1913676	OMIM:618776|ORPHA:2609	Mitochondrial Complex I Deficiency, Nuclear Type 34|Isolated Complex I Deficiency	yes	yes	yes	yes	41
NDUFB1	HGNC:7695	MGI:3780865	-	-	no	no	no	no	NA
NDUFB10	HGNC:7696	MGI:1915592	OMIM:619003|ORPHA:2609	Mitochondrial Complex I Deficiency, Nuclear Type 35|Isolated Complex I Deficiency	no	no	no	no	NA
NDUFB2	HGNC:7697	MGI:1915448	-	-	no	no	no	no	NA
NDUFB3	HGNC:7698	MGI:1913745	OMIM:618246|ORPHA:2609	Mitochondrial Complex I Deficiency, Nuclear Type 25|Isolated Complex I Deficiency	no	no	no	no	NA
NDUFB4	HGNC:7699	MGI:1915444	-	-	no	no	no	no	NA
NDUFB5	HGNC:7700	MGI:1913296	-	-	yes	no	no	no	NA
NDUFB6	HGNC:7701	MGI:2684983	-	-	no	no	no	no	NA
NDUFB7	HGNC:7702	MGI:1914166	OMIM:620135	Mitochondrial Complex I Deficiency, Nuclear Type 39	no	no	no	no	NA
NDUFB8	HGNC:7703	MGI:1914514	OMIM:618252	Mitochondrial Complex I Deficiency, Nuclear Type 32	yes	yes	yes	no	NA
NDUFB9	HGNC:7704	MGI:1913468	OMIM:618245|ORPHA:2609	Mitochondrial Complex I Deficiency, Nuclear Type 24|Isolated Complex I Deficiency	yes	yes	yes	yes	27.62
NDUFC1	HGNC:7705	MGI:1913627	-	-	no	no	no	no	NA
NDUFS1	HGNC:7707	MGI:2443241	OMIM:618226|ORPHA:2609	Mitochondrial Complex I Deficiency, Nuclear Type 5|Isolated Complex I Deficiency	yes	yes	yes	yes	37.36
NDUFS2	HGNC:7708	MGI:2385112	OMIM:620569|OMIM:618228|ORPHA:104|ORPHA:2609	Leber Hereditary Optic Neuropathy, Autosomal Recessive 2|Mitochondrial Complex I Deficiency, Nuclear Type 6|Leber Hereditary Optic Neuropathy|Isolated Complex I Deficiency	yes	yes	yes	yes	17.895
NDUFS3	HGNC:7710	MGI:1915599	OMIM:618230|ORPHA:2609	Mitochondrial Complex I Deficiency, Nuclear Type 8|Isolated Complex I Deficiency	yes	yes	yes	yes	38.06
NDUFS4	HGNC:7711	MGI:1343135	OMIM:252010|ORPHA:2609	Mitochondrial Complex I Deficiency, Nuclear Type 1|Isolated Complex I Deficiency	no	no	no	no	NA
NDUFS5	HGNC:7712	MGI:1890889	-	-	yes	no	no	no	NA
NDUFS6	HGNC:7713	MGI:107932	OMIM:618232|ORPHA:2609	Mitochondrial Complex I Deficiency, Nuclear Type 9|Isolated Complex I Deficiency	yes	yes	yes	yes	25.105
NDUFS7	HGNC:7714	MGI:1922656	OMIM:618224|ORPHA:2609	Mitochondrial Complex I Deficiency, Nuclear Type 3|Isolated Complex I Deficiency	yes	yes	yes	yes	29.905
NDUFS8	HGNC:7715	MGI:2385079	OMIM:618222|ORPHA:2609	Mitochondrial Complex I Deficiency, Nuclear Type 2|Isolated Complex I Deficiency	yes	yes	yes	no	NA
NDUFV1	HGNC:7716	MGI:107851	OMIM:618225|ORPHA:2609	Mitochondrial Complex I Deficiency, Nuclear Type 4|Isolated Complex I Deficiency	yes	yes	yes	no	NA
NDUFV2	HGNC:7717	MGI:1920150	OMIM:618229|ORPHA:2609|ORPHA:139447	Mitochondrial Complex I Deficiency, Nuclear Type 7|Isolated Complex I Deficiency|Progressive Cavitating Leukoencephalopathy	yes	yes	yes	no	NA
NDUFV3	HGNC:7719	MGI:1890894	-	-	yes	no	no	no	NA
NEB	HGNC:7720	MGI:97292	OMIM:619334|OMIM:256030|ORPHA:171430|ORPHA:171433|ORPHA:171436|ORPHA:171439|ORPHA:399103|ORPHA:33108	Arthrogryposis Multiplex Congenita 6|Nemaline Myopathy 2|Severe Congenital Nemaline Myopathy|Intermediate Nemaline Myopathy|Typical Nemaline Myopathy|Childhood-Onset Nemaline Myopathy|Distal Nebulin Myopathy|Lethal Multiple Pterygium Syndrome	no	no	no	no	NA
NEBL	HGNC:16932	MGI:1921353	ORPHA:155	Non Rare In Europe: Familial Isolated Hypertrophic Cardiomyopathy	yes	yes	no	no	NA
NECAB1	HGNC:20983	MGI:1916602	-	-	no	no	no	no	NA
NECAB2	HGNC:23746	MGI:2152211	-	-	yes	no	no	no	NA
NECAB3	HGNC:15851	MGI:1861721	-	-	no	no	no	no	NA
NECAP1	HGNC:24539	MGI:1914852	OMIM:615833|ORPHA:442835	Developmental And Epileptic Encephalopathy 21|Non-Specific Early-Onset Epileptic Encephalopathy	yes	yes	yes	no	NA
NECAP2	HGNC:25528	MGI:1913397	-	-	yes	no	no	no	NA
NECTIN1	HGNC:9706	MGI:1926483	OMIM:225060|ORPHA:199302|ORPHA:199306|ORPHA:141291|ORPHA:3253	Cleft Lip/Palate-Ectodermal Dysplasia Syndrome|Isolated Cleft Lip|Cleft Lip/Palate|Cleft Lip And Alveolus	no	no	no	no	NA
NECTIN2	HGNC:9707	MGI:97822	-	-	no	no	no	no	NA
NECTIN3	HGNC:17664	MGI:1930171	-	-	no	no	no	no	NA
NECTIN4	HGNC:19688	MGI:1918990	OMIM:613573|ORPHA:247820	Ectodermal Dysplasia-Syndactyly Syndrome 1|Ectodermal Dysplasia-Pili Torti-Cutaneous Syndactyly Syndrome	yes	yes	yes	no	NA
NEDD1	HGNC:7723	MGI:97293	-	-	yes	no	no	no	NA
NEDD4	HGNC:7727	MGI:97297	-	-	yes	no	no	no	NA
NEDD4L	HGNC:7728	MGI:1933754	OMIM:617201|ORPHA:98892	Periventricular Nodular Heterotopia 7|Periventricular Nodular Heterotopia	yes	yes	yes	yes	30.59
NEDD8	HGNC:7732	MGI:97301	-	-	no	no	no	no	NA
NEDD9	HGNC:7733	MGI:97302	-	-	no	no	no	no	NA
NEFH	HGNC:7737	MGI:97309	OMIM:105400|OMIM:616924|ORPHA:803	Amyotrophic Lateral Sclerosis 1|Charcot-Marie-Tooth Disease, Axonal, Type 2Cc|Amyotrophic Lateral Sclerosis	yes	yes	yes	yes	38.165
NEFL	HGNC:7739	MGI:97313	OMIM:617882|OMIM:607734|OMIM:607684|ORPHA:228374|ORPHA:101085|ORPHA:99939	Charcot-Marie-Tooth Disease, Dominant Intermediate G|Charcot-Marie-Tooth Disease, Demyelinating, Type 1F|Charcot-Marie-Tooth Disease, Axonal, Type 2E|Charcot-Marie-Tooth Disease Type 2B5|Charcot-Marie-Tooth Disease Type 1F|Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E	no	no	no	no	NA
NEFM	HGNC:7734	MGI:97314	-	-	no	no	no	no	NA
NEGR1	HGNC:17302	MGI:2444846	-	-	yes	no	no	no	NA
NEIL1	HGNC:18448	MGI:1920024	-	-	yes	no	no	no	NA
NEIL2	HGNC:18956	MGI:2686058	-	-	yes	no	no	no	NA
NEIL3	HGNC:24573	MGI:2384588	-	-	no	no	no	no	NA
NEK1	HGNC:7744	MGI:97303	OMIM:263520|OMIM:617892|ORPHA:803|ORPHA:2751|ORPHA:93269	Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly|Amyotrophic Lateral Sclerosis, Susceptibility To, 24|Amyotrophic Lateral Sclerosis|Orofaciodigital Syndrome Type 2|Short Rib-Polydactyly Syndrome, Majewski Type	yes	yes	yes	yes	51
NEK10	HGNC:18592	MGI:2685128	OMIM:618781|ORPHA:244	Ciliary Dyskinesia, Primary, 44|Primary Ciliary Dyskinesia	yes	yes	yes	no	NA
NEK11	HGNC:18593	MGI:2442276	-	-	yes	no	no	no	NA
NEK2	HGNC:7745	MGI:109359	OMIM:615565|ORPHA:791	Retinitis Pigmentosa 67|Retinitis Pigmentosa	yes	yes	yes	yes	32.035
NEK3	HGNC:7746	MGI:1344371	-	-	yes	no	no	no	NA
NEK4	HGNC:11399	MGI:1344404	-	-	no	no	no	no	NA
NEK5	HGNC:7748	MGI:2142824	-	-	no	no	no	no	NA
NEK6	HGNC:7749	MGI:1891638	-	-	no	no	no	no	NA
NEK7	HGNC:13386	MGI:1890645	-	-	yes	no	no	no	NA
NEK8	HGNC:13387	MGI:1890646	OMIM:613824|OMIM:615415|ORPHA:294415|ORPHA:93591	Nephronophthisis 9|Renal-Hepatic-Pancreatic Dysplasia 2|Renal-Hepatic-Pancreatic Dysplasia|Infantile Nephronophthisis	no	no	no	no	NA
NEK9	HGNC:18591	MGI:2387995	OMIM:614262|OMIM:617022|OMIM:617025|ORPHA:464366|ORPHA:64754	Arthrogryposis, Perthes Disease, And Upward Gaze Palsy|Lethal Congenital Contracture Syndrome 10|Nevus Comedonicus|Nek9-Related Lethal Skeletal Dysplasia|Nevus Comedonicus Syndrome	yes	yes	yes	yes	13.545
NELFA	HGNC:12768	MGI:1346098	ORPHA:280	Wolf-Hirschhorn Syndrome	yes	yes	yes	yes	33.765
NELFB	HGNC:24324	MGI:1931035	-	-	no	no	no	no	NA
NELFCD	HGNC:15934	MGI:1926424	-	-	yes	no	no	no	NA
NELFE	HGNC:13974	MGI:102744	-	-	yes	no	no	no	NA
NELL1	HGNC:7750	MGI:2443902	-	-	yes	no	no	no	NA
NELL2	HGNC:7751	MGI:1858510	-	-	no	no	no	no	NA
NEMF	HGNC:10663	MGI:1918305	OMIM:619099|ORPHA:88616	Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy|Autosomal Recessive Non-Syndromic Intellectual Disability	yes	yes	yes	no	NA
NEMP1	HGNC:29001	MGI:2446113	-	-	yes	no	no	no	NA
NEMP2	HGNC:33700	MGI:2444113	-	-	yes	no	no	no	NA
NENF	HGNC:30384	MGI:1913458	-	-	no	no	no	no	NA
NEO1	HGNC:7754	MGI:1097159	-	-	no	no	no	no	NA
NEPRO	HGNC:24496	MGI:2384836	OMIM:618853|ORPHA:93347	Anauxetic Dysplasia 3|Anauxetic Dysplasia	yes	yes	yes	no	NA
NES	HGNC:7756	MGI:101784	-	-	yes	no	no	no	NA
NET1	HGNC:14592	MGI:1927138	-	-	no	no	no	no	NA
NETO1	HGNC:13823	MGI:2180216	-	-	no	no	no	no	NA
NETO2	HGNC:14644	MGI:1921763	-	-	yes	no	no	no	NA
NEU1	HGNC:7758	MGI:97305	OMIM:256550|ORPHA:812|ORPHA:93399|ORPHA:93400	Neuraminidase Deficiency|Sialidosis Type 1|Juvenile Sialidosis Type 2|Congenital Sialidosis Type 2	no	no	no	no	NA
NEU2	HGNC:7759	MGI:1344417	-	-	no	no	no	no	NA
NEU3	HGNC:7760	MGI:1355305	-	-	no	no	no	no	NA
NEU4	HGNC:21328	MGI:2661364	-	-	no	no	no	no	NA
NEURL1	HGNC:7761	MGI:1334263	-	-	no	no	no	no	NA
NEURL1B	HGNC:35422	MGI:3643092	-	-	yes	no	no	no	NA
NEURL2	HGNC:16156	MGI:3043305	-	-	yes	no	no	no	NA
NEURL3	HGNC:25162	MGI:2429944	-	-	no	no	no	no	NA
NEURL4	HGNC:34410	MGI:1921092	-	-	yes	no	no	no	NA
NEUROD1	HGNC:7762	MGI:1339708	OMIM:125853|OMIM:606394|ORPHA:552	Type 2 Diabetes Mellitus|Maturity-Onset Diabetes Of The Young, Type 6|Mody	no	no	no	no	NA
NEUROD2	HGNC:7763	MGI:107755	OMIM:618374|ORPHA:1934	Developmental And Epileptic Encephalopathy 72|Early Infantile Epileptic Encephalopathy	yes	yes	yes	yes	42.475
NEUROD4	HGNC:13802	MGI:108055	-	-	no	no	no	no	NA
NEUROD6	HGNC:13804	MGI:106593	-	-	no	no	no	no	NA
NEUROG1	HGNC:7764	MGI:107754	OMIM:620469	Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay	no	no	no	no	NA
NEUROG2	HGNC:13805	MGI:109619	-	-	no	no	no	no	NA
NEUROG3	HGNC:13806	MGI:893591	OMIM:610370|ORPHA:83620	Diarrhea 4, Malabsorptive, Congenital|Enteric Anendocrinosis	no	no	no	no	NA
NEXMIF	HGNC:29433	MGI:2148050	OMIM:300912|ORPHA:1942|ORPHA:85277	Intellectual Developmental Disorder, X-Linked 98|Myoclonic-Astatic Epilepsy|X-Linked Intellectual Disability, Cantagrel Type	yes	yes	yes	yes	44.445
NEXN	HGNC:29557	MGI:1916060	OMIM:613122|OMIM:613876|ORPHA:154|ORPHA:155	Cardiomyopathy, Dilated, 1Cc|Cardiomyopathy, Familial Hypertrophic, 20|Familial Isolated Dilated Cardiomyopathy|Non Rare In Europe: Familial Isolated Hypertrophic Cardiomyopathy	no	no	no	no	NA
NF1	HGNC:7765	MGI:97306	OMIM:607785|OMIM:162210|OMIM:162200|OMIM:601321|OMIM:193520|ORPHA:638|ORPHA:139474|ORPHA:363700|ORPHA:293199|ORPHA:29072|ORPHA:86834|ORPHA:97685|ORPHA:99757|ORPHA:99756	Juvenile Myelomonocytic Leukemia|Neurofibromatosis, Familial Spinal|Neurofibromatosis, Type I|Neurofibromatosis-Noonan Syndrome|Watson Syndrome|17Q11.2 Microduplication Syndrome|Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion|Pleomorphic Rhabdomyosarcoma|Hereditary Pheochromocytoma-Paraganglioma|17Q11 Microdeletion Syndrome|Embryonal Rhabdomyosarcoma|Alveolar Rhabdomyosarcoma	yes	yes	yes	no	NA
NF2	HGNC:7773	MGI:97307	OMIM:607174|OMIM:101000|ORPHA:637|ORPHA:2495|ORPHA:93921	Meningioma, Familial, Susceptibility To|Schwannomatosis, Vestibular|Full Nf2-Related Schwannomatosis|Meningioma|Full Schwannomatosis	no	no	no	no	NA
NFAM1	HGNC:29872	MGI:1921289	-	-	yes	no	no	no	NA
NFASC	HGNC:29866	MGI:104753	OMIM:618356	Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	yes	yes	yes	no	NA
NFAT5	HGNC:7774	MGI:1859333	ORPHA:529980	Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections Syndrome	yes	yes	no	no	NA
NFATC1	HGNC:7775	MGI:102469	-	-	no	no	no	no	NA
NFATC2	HGNC:7776	MGI:102463	OMIM:620232	Joint Contractures, Osteochondromas, And B-Cell Lymphoma	no	no	no	no	NA
NFATC2IP	HGNC:25906	MGI:1329015	-	-	yes	no	no	no	NA
NFATC3	HGNC:7777	MGI:103296	-	-	yes	no	no	no	NA
NFATC4	HGNC:7778	MGI:1920431	-	-	yes	no	no	no	NA
NFE2	HGNC:7780	MGI:97308	-	-	no	no	no	no	NA
NFE2L1	HGNC:7781	MGI:99421	-	-	no	no	no	no	NA
NFE2L2	HGNC:7782	MGI:108420	OMIM:617744|ORPHA:619979	Immunodeficiency, Developmental Delay, And Hypohomocysteinemia|Developmental Delay-Immunodeficiency-Leukoencephalopathy-Hypohomocysteinemia Syndrome	yes	yes	yes	yes	53.82
NFE2L3	HGNC:7783	MGI:1339958	-	-	no	no	no	no	NA
NFIA	HGNC:7784	MGI:108056	OMIM:613735|ORPHA:401986	Brain Malformations With Or Without Urinary Tract Defects|1P31P32 Microdeletion Syndrome	no	no	no	no	NA
NFIB	HGNC:7785	MGI:103188	OMIM:618286	Macrocephaly, Acquired, With Impaired Intellectual Development	no	no	no	no	NA
NFIC	HGNC:7786	MGI:109591	-	-	no	no	no	no	NA
NFIL3	HGNC:7787	MGI:109495	-	-	yes	no	no	no	NA
NFIX	HGNC:7788	MGI:97311	OMIM:614753|OMIM:602535|ORPHA:561|ORPHA:447980|ORPHA:420179	Malan Syndrome|Marshall-Smith Syndrome|19P13.3 Microduplication Syndrome|Malan Overgrowth Syndrome	yes	no	yes	no	NA
NFKB1	HGNC:7794	MGI:97312	OMIM:616576|ORPHA:1572	Immunodeficiency, Common Variable, 12, With Autoimmunity|Common Variable Immunodeficiency	yes	yes	yes	yes	33.76
NFKB2	HGNC:7795	MGI:1099800	OMIM:615577|ORPHA:1572|ORPHA:293978	Immunodeficiency, Common Variable, 10|Common Variable Immunodeficiency|Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	no	no	no	no	NA
NFKBIA	HGNC:7797	MGI:104741	OMIM:612132|ORPHA:150|ORPHA:251576|ORPHA:251579|ORPHA:98813	Ectodermal Dysplasia And Immunodeficiency 2|Nasopharyngeal Carcinoma|Gliosarcoma|Giant Cell Glioblastoma|Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	no	no	no	no	NA
NFKBIB	HGNC:7798	MGI:104752	-	-	no	no	no	no	NA
NFKBID	HGNC:15671	MGI:3041243	-	-	yes	no	no	no	NA
NFKBIE	HGNC:7799	MGI:1194908	-	-	no	no	no	no	NA
NFKBIL1	HGNC:7800	MGI:1340031	OMIM:180300	Rheumatoid Arthritis	yes	yes	yes	yes	31.015
NFKBIZ	HGNC:29805	MGI:1931595	-	-	no	no	no	no	NA
NFRKB	HGNC:7802	MGI:2442410	-	-	no	no	no	no	NA
NFS1	HGNC:15910	MGI:1316706	OMIM:619386|ORPHA:397593	Combined Oxidative Phosphorylation Deficiency 52|Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency	no	no	no	no	NA
NFU1	HGNC:16287	MGI:1913290	OMIM:605711|ORPHA:401869	Multiple Mitochondrial Dysfunctions Syndrome 1|Multiple Mitochondrial Dysfunctions Syndrome Type 1	no	no	no	no	NA
NFX1	HGNC:7803	MGI:1921414	-	-	no	no	no	no	NA
NFXL1	HGNC:18726	MGI:1923646	-	-	yes	no	no	no	NA
NFYA	HGNC:7804	MGI:97316	-	-	yes	no	no	no	NA
NFYB	HGNC:7805	MGI:97317	-	-	no	no	no	no	NA
NFYC	HGNC:7806	MGI:107901	-	-	no	no	no	no	NA
NGB	HGNC:14077	MGI:2151886	-	-	no	no	no	no	NA
NGDN	HGNC:20271	MGI:1916216	-	-	yes	no	no	no	NA
NGEF	HGNC:7807	MGI:1858414	-	-	no	no	no	no	NA
NGF	HGNC:7808	MGI:97321	OMIM:608654|ORPHA:64752	Neuropathy, Hereditary Sensory And Autonomic, Type V|Hereditary Sensory And Autonomic Neuropathy Type 5	no	no	no	no	NA
NGFR	HGNC:7809	MGI:97323	-	-	yes	no	no	no	NA
NGLY1	HGNC:17646	MGI:1913276	OMIM:615273|ORPHA:404454	Congenital Disorder Of Deglycosylation 1|Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	no	no	no	no	NA
NGRN	HGNC:18077	MGI:1933212	-	-	yes	no	no	no	NA
NHEJ1	HGNC:25737	MGI:1922820	OMIM:611291|ORPHA:169079	Severe Combined Immunodeficiency With Microcephaly, Growth Retardation, And Sensitivity To Ionizing Radiation|Cernunnos-Xlf Deficiency	no	no	no	no	NA
NHERF1	HGNC:11075	MGI:1349482	OMIM:612287|ORPHA:244305	Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2|Dominant Hypophosphatemia With Nephrolithiasis Or Osteoporosis	yes	yes	yes	yes	35.255
NHERF2	HGNC:11076	MGI:1890662	-	-	yes	no	no	no	NA
NHERF4	HGNC:19891	MGI:2429554	-	-	yes	no	no	no	NA
NHLH1	HGNC:7817	MGI:98481	-	-	yes	no	no	no	NA
NHLH2	HGNC:7818	MGI:97324	OMIM:619755|ORPHA:432	Hypogonadotropic Hypogonadism 27 Without Anosmia|Normosmic Congenital Hypogonadotropic Hypogonadism	yes	yes	yes	yes	64.07
NHLRC1	HGNC:21576	MGI:2145264	OMIM:254780|ORPHA:501	Myoclonic Epilepsy Of Lafora|Lafora Disease	no	no	no	no	NA
NHLRC2	HGNC:24731	MGI:1914116	OMIM:618278|ORPHA:621758	Fibrosis, Neurodegeneration, And Cerebral Angiomatosis|Fibrosis-Neurodegeneration-Cerebral Angiomatosis Syndrome	yes	yes	yes	no	NA
NHLRC3	HGNC:33751	MGI:2444520	-	-	yes	no	no	no	NA
NHLRC4	HGNC:26700	MGI:3687200	-	-	no	no	no	no	NA
NHP2	HGNC:14377	MGI:1098547	OMIM:613987|ORPHA:1775	Dyskeratosis Congenita, Autosomal Recessive 2|Dyskeratosis Congenita	yes	yes	yes	yes	33.86
NHS	HGNC:7820	MGI:2684894	OMIM:302200|OMIM:302350|ORPHA:627|ORPHA:98991|ORPHA:98994	Cataract 40|Nance-Horan Syndrome|Early-Onset Nuclear Cataract|Total Early-Onset Cataract	yes	yes	yes	no	NA
NHSL1	HGNC:21021	MGI:106390	-	-	yes	no	no	no	NA
NHSL2	HGNC:33737	MGI:3645090	-	-	yes	no	no	no	NA
NHSL3	HGNC:29301	MGI:2140651	-	-	no	no	no	no	NA
NIBAN1	HGNC:16784	MGI:2137237	-	-	yes	no	no	no	NA
NIBAN2	HGNC:25282	MGI:2442910	-	-	yes	no	no	no	NA
NIBAN3	HGNC:24130	MGI:3686743	-	-	yes	no	no	no	NA
NICN1	HGNC:18317	MGI:1913507	-	-	no	no	no	no	NA
NICOL1	HGNC:34437	MGI:2686519	-	-	no	no	no	no	NA
NID1	HGNC:7821	MGI:97342	ORPHA:269215	Isolated Dandy-Walker Malformation Without Hydrocephalus	no	no	no	no	NA
NID2	HGNC:13389	MGI:1298229	-	-	yes	no	no	no	NA
NIF3L1	HGNC:13390	MGI:1929485	-	-	no	no	no	no	NA
NIFK	HGNC:17838	MGI:1915199	-	-	yes	no	no	no	NA
NIM1K	HGNC:28646	MGI:2442399	-	-	yes	no	no	no	NA
NIN	HGNC:14906	MGI:105108	OMIM:614851|ORPHA:319675	Seckel Syndrome 7|Microcephalic Primordial Dwarfism, Dauber Type	yes	yes	yes	yes	12.555
NINJ1	HGNC:7824	MGI:1196617	-	-	no	no	no	no	NA
NINJ2	HGNC:7825	MGI:1352751	-	-	yes	no	no	no	NA
NINL	HGNC:29163	MGI:1925427	-	-	yes	no	no	no	NA
NIP7	HGNC:24328	MGI:1913414	-	-	no	no	no	no	NA
NIPA1	HGNC:17043	MGI:2442058	OMIM:600363|ORPHA:261183|ORPHA:100988	Spastic Paraplegia 6, Autosomal Dominant|15Q11.2 Microdeletion Syndrome|Autosomal Dominant Spastic Paraplegia Type 6	yes	yes	yes	no	NA
NIPA2	HGNC:17044	MGI:1913918	ORPHA:261183	15Q11.2 Microdeletion Syndrome	no	no	no	no	NA
NIPAL1	HGNC:27194	MGI:1917951	-	-	no	no	no	no	NA
NIPAL2	HGNC:25854	MGI:1924488	-	-	no	no	no	no	NA
NIPAL3	HGNC:25233	MGI:1921802	-	-	yes	no	no	no	NA
NIPAL4	HGNC:28018	MGI:2444671	OMIM:612281|ORPHA:313|ORPHA:79394	Ichthyosis, Congenital, Autosomal Recessive 6|Lamellar Ichthyosis|Congenital Ichthyosiform Erythroderma	no	no	no	no	NA
NIPBL	HGNC:28862	MGI:1913976	OMIM:122470|ORPHA:199|ORPHA:329802	Cornelia De Lange Syndrome 1|Cornelia De Lange Syndrome|5P13 Microduplication Syndrome	no	no	no	no	NA
NIPSNAP1	HGNC:7827	MGI:1278344	-	-	yes	no	no	no	NA
NIPSNAP2	HGNC:4179	MGI:1278343	-	-	yes	no	no	no	NA
NISCH	HGNC:18006	MGI:1928323	-	-	yes	no	no	no	NA
NIT1	HGNC:7828	MGI:1350916	-	-	no	no	no	no	NA
NIT2	HGNC:29878	MGI:1261838	-	-	no	no	no	no	NA
NKAIN1	HGNC:25743	MGI:1914399	-	-	no	no	no	no	NA
NKAIN2	HGNC:16443	MGI:1923447	-	-	no	no	no	no	NA
NKAIN3	HGNC:26829	MGI:2444830	-	-	no	no	no	no	NA
NKAIN4	HGNC:16191	MGI:1915372	-	-	yes	no	no	no	NA
NKAP	HGNC:29873	MGI:1914300	OMIM:301039	Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	no	no	no	no	NA
NKAPD1	HGNC:25569	MGI:2143205	-	-	yes	no	no	no	NA
NKAPL	HGNC:21584	MGI:1913957	-	-	no	no	no	no	NA
NKD1	HGNC:17045	MGI:2135954	-	-	no	no	no	no	NA
NKD2	HGNC:17046	MGI:1919543	-	-	no	no	no	no	NA
NKG7	HGNC:7830	MGI:1931250	-	-	yes	no	no	no	NA
NKIRAS1	HGNC:17899	MGI:1916971	-	-	yes	no	no	no	NA
NKIRAS2	HGNC:17898	MGI:1919216	-	-	yes	no	no	no	NA
NKPD1	HGNC:24739	MGI:1916797	-	-	yes	no	no	no	NA
NKRF	HGNC:19374	MGI:1924536	-	-	no	no	no	no	NA
NKTR	HGNC:7833	MGI:97346	-	-	no	no	no	no	NA
NKX1-1	HGNC:24975	MGI:109346	-	-	no	no	no	no	NA
NKX1-2	HGNC:31652	MGI:104806	-	-	no	no	no	no	NA
NKX2-1	HGNC:11825	MGI:108067	OMIM:118700|OMIM:610978|OMIM:188550|ORPHA:146|ORPHA:1429|ORPHA:209905|ORPHA:95713	Chorea, Benign Hereditary|Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction|Thyroid Cancer, Nonmedullary, 1|Differentiated Thyroid Carcinoma|Benign Hereditary Chorea|Brain-Lung-Thyroid Syndrome|Athyreosis	no	no	no	no	NA
NKX2-2	HGNC:7835	MGI:97347	-	-	no	no	no	no	NA
NKX2-3	HGNC:7836	MGI:97348	-	-	no	no	no	no	NA
NKX2-4	HGNC:7837	MGI:97349	-	-	no	no	no	no	NA
NKX2-5	HGNC:2488	MGI:97350	OMIM:108900|OMIM:217095|OMIM:614435|OMIM:225250|OMIM:187500|OMIM:614432|ORPHA:2248|ORPHA:3303|ORPHA:1480|ORPHA:871|ORPHA:1627|ORPHA:1479|ORPHA:402075|ORPHA:334|ORPHA:95713|ORPHA:95712|ORPHA:99103|ORPHA:101351	Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects|Conotruncal Heart Malformations|Hypoplastic Left Heart Syndrome 2|Hypothyroidism, Congenital, Nongoitrous, 5|Tetralogy Of Fallot|Ventricular Septal Defect 3|Hypoplastic Left Heart Syndrome|Non Rare In Europe: Ventricular Septal Defect|Familial Progressive Cardiac Conduction Defect|Deletion 5Q35|Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome|Familial Bicuspid Aortic Valve|Familial Atrial Fibrillation|Athyreosis|Thyroid Ectopia|Atrial Septal Defect, Ostium Secundum Type|Familial Isolated Congenital Asplenia	no	no	no	no	NA
NKX2-6	HGNC:32940	MGI:97351	OMIM:217095|ORPHA:3303|ORPHA:1480|ORPHA:3384|ORPHA:334	Conotruncal Heart Malformations|Tetralogy Of Fallot|Non Rare In Europe: Ventricular Septal Defect|Truncus Arteriosus|Familial Atrial Fibrillation	yes	yes	yes	no	NA
NKX2-8	HGNC:16364	MGI:1270158	-	-	no	no	no	no	NA
NKX3-1	HGNC:7838	MGI:97352	-	-	no	no	no	no	NA
NKX3-2	HGNC:951	MGI:108015	OMIM:613330|ORPHA:228387	Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	no	no	no	no	NA
NKX6-1	HGNC:7839	MGI:1206039	-	-	no	no	no	no	NA
NKX6-2	HGNC:19321	MGI:1352738	OMIM:617560|ORPHA:527497	Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy|Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy	yes	no	yes	no	NA
NKX6-3	HGNC:26328	MGI:1921811	-	-	no	no	no	no	NA
NLE1	HGNC:19889	MGI:2429770	-	-	no	no	no	no	NA
NLGN1	HGNC:14291	MGI:2179435	OMIM:618830	Autism, Susceptibility To, 20	no	no	no	no	NA
NLGN2	HGNC:14290	MGI:2681835	-	-	no	no	no	no	NA
NLGN3	HGNC:14289	MGI:2444609	OMIM:300425|ORPHA:106|ORPHA:1162	Autism, Susceptibility To, X-Linked 1|Non Rare In Europe: Autism|Non Rare In Europe: Asperger Syndrome	yes	yes	yes	yes	63.745
NLK	HGNC:29858	MGI:1201387	-	-	yes	no	no	no	NA
NLN	HGNC:16058	MGI:1923055	-	-	no	no	no	no	NA
NLRC3	HGNC:29889	MGI:2444070	-	-	no	no	no	no	NA
NLRC4	HGNC:16412	MGI:3036243	OMIM:616115|OMIM:616050|ORPHA:436166|ORPHA:576349	Familial Cold Autoinflammatory Syndrome 4|Autoinflammation With Infantile Enterocolitis|Periodic Fever-Infantile Enterocolitis-Autoinflammatory Syndrome|Nlrc4-Related Familial Cold Autoinflammatory Syndrome	no	no	no	no	NA
NLRC5	HGNC:29933	MGI:3612191	-	-	no	no	no	no	NA
NLRP10	HGNC:21464	MGI:2444084	-	-	no	no	no	no	NA
NLRP12	HGNC:22938	MGI:2676630	OMIM:611762|ORPHA:247868	Familial Cold Autoinflammatory Syndrome 2|Nlrp12-Associated Hereditary Periodic Fever Syndrome	no	no	no	no	NA
NLRP14	HGNC:22939	MGI:1924108	-	-	yes	no	no	no	NA
NLRP3	HGNC:16400	MGI:2653833	OMIM:607115|OMIM:617772|OMIM:120100|OMIM:148200|OMIM:191900|ORPHA:575|ORPHA:1451|ORPHA:47045|ORPHA:647815	Cinca Syndrome|Deafness, Autosomal Dominant 34, With Or Without Inflammation|Familial Cold Autoinflammatory Syndrome 1|Keratoendotheliitis Fugax Hereditaria|Muckle-Wells Syndrome|Familial Cold Urticaria	no	no	no	no	NA
NLRP5	HGNC:21269	MGI:1345193	OMIM:620333	Oocyte/Zygote/Embryo Maturation Arrest 19	no	no	no	no	NA
NLRP6	HGNC:22944	MGI:2141990	-	-	no	no	no	no	NA
NLRX1	HGNC:29890	MGI:2429611	-	-	yes	no	no	no	NA
NMB	HGNC:7842	MGI:1915289	-	-	yes	no	no	no	NA
NMBR	HGNC:7843	MGI:1100525	-	-	no	no	no	no	NA
NMD3	HGNC:24250	MGI:2140103	-	-	no	no	no	no	NA
NME1	HGNC:7849	MGI:97355	-	-	no	no	no	no	NA
NME2	HGNC:7850	MGI:97356	-	-	yes	no	no	no	NA
NME3	HGNC:7851	MGI:1930182	-	-	no	no	no	no	NA
NME4	HGNC:7852	MGI:1931148	-	-	yes	no	no	no	NA
NME5	HGNC:7853	MGI:1922783	OMIM:620032|ORPHA:244	Ciliary Dyskinesia, Primary, 48, Without Situs Inversus|Primary Ciliary Dyskinesia	no	no	no	no	NA
NME6	HGNC:20567	MGI:1861676	-	-	yes	no	no	no	NA
NME7	HGNC:20461	MGI:2449121	ORPHA:101063	Situs Inversus Totalis	yes	yes	no	no	NA
NME8	HGNC:16473	MGI:1920662	OMIM:610852|ORPHA:244	Ciliary Dyskinesia, Primary, 6|Primary Ciliary Dyskinesia	yes	no	yes	no	NA
NME9	HGNC:21343	MGI:4359686	-	-	no	no	no	no	NA
NMI	HGNC:7854	MGI:1928368	-	-	no	no	no	no	NA
NMNAT1	HGNC:17877	MGI:1913704	OMIM:608553|OMIM:619260|ORPHA:1872|ORPHA:65	Leber Congenital Amaurosis 9|Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis|Cone Rod Dystrophy|Leber Congenital Amaurosis	yes	yes	yes	no	NA
NMNAT2	HGNC:16789	MGI:2444155	-	-	yes	no	no	no	NA
NMNAT3	HGNC:20989	MGI:1921330	-	-	no	no	no	no	NA
NMRAL1	HGNC:24987	MGI:1915074	-	-	yes	no	no	no	NA
NMRK1	HGNC:26057	MGI:2147434	-	-	yes	no	no	no	NA
NMRK2	HGNC:17871	MGI:1916814	-	-	yes	no	no	no	NA
NMS	HGNC:32203	MGI:3583618	-	-	no	no	no	no	NA
NMT1	HGNC:7857	MGI:102579	-	-	no	no	no	no	NA
NMT2	HGNC:7858	MGI:1202298	-	-	yes	no	no	no	NA
NMU	HGNC:7859	MGI:1860476	-	-	yes	no	no	no	NA
NMUR1	HGNC:4518	MGI:1341898	-	-	yes	no	no	no	NA
NMUR2	HGNC:16454	MGI:2441765	-	-	no	no	no	no	NA
NNAT	HGNC:7860	MGI:104716	-	-	yes	no	no	no	NA
NNMT	HGNC:7861	MGI:1099443	-	-	yes	no	no	no	NA
NNT	HGNC:7863	MGI:109279	OMIM:614736|ORPHA:361	Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency|Familial Glucocorticoid Deficiency	yes	yes	yes	no	NA
NOA1	HGNC:28473	MGI:1914306	-	-	no	no	no	no	NA
NOB1	HGNC:29540	MGI:1914869	-	-	no	no	no	no	NA
NOBOX	HGNC:22448	MGI:108011	OMIM:611548|ORPHA:619	Premature Ovarian Failure 5|Non Rare In Europe: Primary Ovarian Failure	yes	yes	yes	yes	25.825
NOC2L	HGNC:24517	MGI:1931051	-	-	no	no	no	no	NA
NOC3L	HGNC:24034	MGI:1932610	-	-	no	no	no	no	NA
NOC4L	HGNC:28461	MGI:2140843	-	-	yes	no	no	no	NA
NOCT	HGNC:14254	MGI:109382	-	-	no	no	no	no	NA
NOD1	HGNC:16390	MGI:1341839	-	-	no	no	no	no	NA
NOD2	HGNC:5331	MGI:2429397	OMIM:186580|OMIM:266600|OMIM:617321|ORPHA:206|ORPHA:771|ORPHA:90340	Blau Syndrome|Inflammatory Bowel Disease (Crohn Disease) 1|Yao Syndrome|Non Rare In Europe: Crohn Disease|Non Rare In Europe: Ulcerative Colitis	yes	yes	yes	yes	37.4
NODAL	HGNC:7865	MGI:97359	OMIM:270100|ORPHA:157769|ORPHA:280200|ORPHA:280195|ORPHA:220386|ORPHA:93926|ORPHA:93924|ORPHA:93925|ORPHA:101063	Heterotaxy, Visceral, 5, Autosomal|Situs Ambiguus|Microform Holoprosencephaly|Septopreoptic Holoprosencephaly|Semilobar Holoprosencephaly|Midline Interhemispheric Variant Of Holoprosencephaly|Lobar Holoprosencephaly|Alobar Holoprosencephaly|Situs Inversus Totalis	yes	yes	yes	yes	28.815
NOG	HGNC:7866	MGI:104327	OMIM:611377|OMIM:186500|OMIM:184460|OMIM:185800|OMIM:186570|ORPHA:1412|ORPHA:140917|ORPHA:140908|ORPHA:3237|ORPHA:3250	Brachydactyly, Type B2|Multiple Synostoses Syndrome 1|Stapes Ankylosis With Broad Thumbs And Toes|Symphalangism, Proximal, 1A|Tarsal-Carpal Coalition Syndrome|Brachydactyly Type B2|Multiple Synostoses Syndrome|Proximal Symphalangism	yes	yes	yes	yes	34.175
NOL10	HGNC:25862	MGI:2684913	-	-	yes	no	no	no	NA
NOL11	HGNC:24557	MGI:1916229	-	-	no	no	no	no	NA
NOL12	HGNC:28585	MGI:2146285	-	-	no	no	no	no	NA
NOL3	HGNC:7869	MGI:1925938	OMIM:614937|ORPHA:319189	Myoclonus, Familial, 1|Familial Cortical Myoclonus	yes	yes	yes	no	NA
NOL4	HGNC:7870	MGI:2441684	-	-	yes	no	no	no	NA
NOL4L	HGNC:16106	MGI:1918765	-	-	no	no	no	no	NA
NOL6	HGNC:19910	MGI:2140151	-	-	no	no	no	no	NA
NOL7	HGNC:21040	MGI:1917328	-	-	no	no	no	no	NA
NOL8	HGNC:23387	MGI:1918180	-	-	yes	no	no	no	NA
NOL9	HGNC:26265	MGI:1921285	-	-	yes	no	no	no	NA
NOLC1	HGNC:15608	MGI:1918019	-	-	yes	no	no	no	NA
NOM1	HGNC:13244	MGI:1861749	-	-	yes	no	no	no	NA
NONO	HGNC:7871	MGI:1855692	OMIM:300967|ORPHA:319308|ORPHA:466791	Intellectual Developmental Disorder, X-Linked, Syndromic 34|Mit Family Translocation Renal Cell Carcinoma|Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	yes	yes	yes	no	NA
NOP10	HGNC:14378	MGI:1913431	OMIM:620425|OMIM:224230|OMIM:620400|ORPHA:1775	Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2|Dyskeratosis Congenita, Autosomal Recessive 1|Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9|Dyskeratosis Congenita	yes	yes	yes	no	NA
NOP14	HGNC:16821	MGI:1922666	-	-	no	no	no	no	NA
NOP16	HGNC:26934	MGI:107862	-	-	no	no	no	no	NA
NOP2	HGNC:7867	MGI:107891	-	-	no	no	no	no	NA
NOP53	HGNC:4333	MGI:2154441	-	-	no	no	no	no	NA
NOP56	HGNC:15911	MGI:1914384	OMIM:614153|ORPHA:276198	Spinocerebellar Ataxia 36|Spinocerebellar Ataxia Type 36	no	no	no	no	NA
NOP58	HGNC:29926	MGI:1933184	-	-	no	no	no	no	NA
NOP9	HGNC:19826	MGI:1915092	-	-	no	no	no	no	NA
NOPCHAP1	HGNC:28628	MGI:106381	-	-	no	no	no	no	NA
NOS1	HGNC:7872	MGI:97360	ORPHA:930	Idiopathic Achalasia	no	no	no	no	NA
NOS1AP	HGNC:16859	MGI:1917979	OMIM:619155|ORPHA:101016	Nephrotic Syndrome, Type 22|Romano-Ward Syndrome	yes	yes	yes	yes	34.925
NOS2	HGNC:7873	MGI:97361	OMIM:611162	Malaria, Susceptibility To	yes	yes	no	no	NA
NOS3	HGNC:7876	MGI:97362	OMIM:104300|OMIM:145500|OMIM:189800|OMIM:601367	Alzheimer Disease, Familial, 1|Hypertension, Essential|Preeclampsia/Eclampsia 1|Stroke, Ischemic	yes	yes	yes	yes	30.29
NOSIP	HGNC:17946	MGI:1913644	-	-	yes	no	no	no	NA
NOSTRIN	HGNC:20203	MGI:3606242	-	-	no	no	no	no	NA
NOTCH1	HGNC:7881	MGI:97363	OMIM:616028|OMIM:109730|ORPHA:974|ORPHA:402075	Adams-Oliver Syndrome 5|Aortic Valve Disease 1|Adams-Oliver Syndrome|Familial Bicuspid Aortic Valve	yes	yes	yes	no	NA
NOTCH2	HGNC:7882	MGI:97364	OMIM:610205|OMIM:102500|ORPHA:955|ORPHA:261629	Alagille Syndrome 2|Hajdu-Cheney Syndrome|Alagille Syndrome Due To A Notch2 Point Mutation	no	no	no	no	NA
NOTCH3	HGNC:7883	MGI:99460	OMIM:615293|OMIM:125310|OMIM:130720|ORPHA:136|ORPHA:2789|ORPHA:2591	Myofibromatosis, Infantile, 2|Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1|Lateral Meningocele Syndrome|Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy|Infantile Myofibromatosis	yes	yes	yes	yes	37.835
NOTCH4	HGNC:7884	MGI:107471	-	-	yes	no	no	no	NA
NOTO	HGNC:31839	MGI:3053002	-	-	no	no	no	no	NA
NOTUM	HGNC:27106	MGI:1924833	-	-	yes	no	no	no	NA
NOVA1	HGNC:7886	MGI:104297	-	-	no	no	no	no	NA
NOVA2	HGNC:7887	MGI:104296	OMIM:618859	Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	no	no	no	no	NA
NOX1	HGNC:7889	MGI:2450016	-	-	yes	no	no	no	NA
NOX3	HGNC:7890	MGI:2681162	-	-	no	no	no	no	NA
NOX4	HGNC:7891	MGI:1354184	-	-	yes	no	no	no	NA
NOXA1	HGNC:10668	MGI:2449980	-	-	no	no	no	no	NA
NOXO1	HGNC:19404	MGI:1919143	-	-	no	no	no	no	NA
NOXRED1	HGNC:20487	MGI:1918525	-	-	yes	no	no	no	NA
NPAS1	HGNC:7894	MGI:109205	-	-	no	no	no	no	NA
NPAS2	HGNC:7895	MGI:109232	-	-	yes	no	no	no	NA
NPAS3	HGNC:19311	MGI:1351610	-	-	yes	no	no	no	NA
NPAS4	HGNC:18983	MGI:2664186	-	-	yes	no	no	no	NA
NPAT	HGNC:7896	MGI:107605	-	-	yes	no	no	no	NA
NPB	HGNC:30099	MGI:2387153	-	-	no	no	no	no	NA
NPBWR1	HGNC:4522	MGI:891989	-	-	yes	no	no	no	NA
NPC1	HGNC:7897	MGI:1097712	OMIM:257220|ORPHA:216972|ORPHA:216978|ORPHA:216975|ORPHA:216986|ORPHA:216981	Niemann-Pick Disease, Type C1|Niemann-Pick Disease Type C, Severe Perinatal Form|Niemann-Pick Disease Type C, Late Infantile Neurologic Onset|Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset|Niemann-Pick Disease Type C, Adult Neurologic Onset|Niemann-Pick Disease Type C, Juvenile Neurologic Onset	yes	yes	yes	yes	36.595
NPC1L1	HGNC:7898	MGI:2685089	OMIM:617966|ORPHA:426	Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 7|Non Rare In Europe: Familial Hypobetalipoproteinemia	no	no	no	no	NA
NPC2	HGNC:14537	MGI:1915213	OMIM:607625|ORPHA:216972|ORPHA:216978|ORPHA:216975|ORPHA:216986|ORPHA:216981	Niemann-Pick Disease, Type C2|Niemann-Pick Disease Type C, Severe Perinatal Form|Niemann-Pick Disease Type C, Late Infantile Neurologic Onset|Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset|Niemann-Pick Disease Type C, Adult Neurologic Onset|Niemann-Pick Disease Type C, Juvenile Neurologic Onset	yes	yes	yes	no	NA
NPDC1	HGNC:7899	MGI:1099802	-	-	no	no	no	no	NA
NPEPL1	HGNC:16244	MGI:2448523	-	-	no	no	no	no	NA
NPEPPS	HGNC:7900	MGI:1101358	-	-	yes	no	no	no	NA
NPFF	HGNC:7901	MGI:1891708	-	-	yes	no	no	no	NA
NPFFR1	HGNC:17425	MGI:2685082	-	-	yes	no	no	no	NA
NPFFR2	HGNC:4525	MGI:1860130	-	-	yes	no	no	no	NA
NPHP1	HGNC:7905	MGI:1858233	OMIM:609583|OMIM:256100|OMIM:266900|ORPHA:3156|ORPHA:110|ORPHA:220497|ORPHA:93592	Joubert Syndrome 4|Nephronophthisis 1|Senior-Loken Syndrome 1|Senior-Loken Syndrome|Bardet-Biedl Syndrome|Joubert Syndrome With Renal Defect|Juvenile Nephronophthisis	yes	yes	yes	yes	42.405
NPHP3	HGNC:7907	MGI:1921275	OMIM:267010|OMIM:604387|OMIM:208540|ORPHA:3032|ORPHA:3156|ORPHA:294415|ORPHA:93591|ORPHA:93589	Meckel Syndrome, Type 7|Nephronophthisis 3|Renal-Hepatic-Pancreatic Dysplasia 1|Nphp3-Related Meckel-Like Syndrome|Senior-Loken Syndrome|Renal-Hepatic-Pancreatic Dysplasia|Infantile Nephronophthisis|Late-Onset Nephronophthisis	yes	yes	yes	yes	20.36
NPHP4	HGNC:19104	MGI:2384210	OMIM:606966|OMIM:606996|ORPHA:3156|ORPHA:93592	Nephronophthisis 4|Senior-Loken Syndrome 4|Senior-Loken Syndrome|Juvenile Nephronophthisis	yes	yes	yes	yes	24.365
NPHS1	HGNC:7908	MGI:1859637	OMIM:256300|ORPHA:656|ORPHA:839	Nephrotic Syndrome, Type 1|Genetic Steroid-Resistant Nephrotic Syndrome|Congenital Nephrotic Syndrome, Finnish Type	no	no	no	no	NA
NPHS2	HGNC:13394	MGI:2157018	OMIM:600995|ORPHA:656	Nephrotic Syndrome, Type 2|Genetic Steroid-Resistant Nephrotic Syndrome	no	no	no	no	NA
NPL	HGNC:16781	MGI:1921341	-	-	no	no	no	no	NA
NPLOC4	HGNC:18261	MGI:2679787	-	-	yes	no	no	no	NA
NPM1	HGNC:7910	MGI:106184	OMIM:601626|ORPHA:1775|ORPHA:300865|ORPHA:402026|ORPHA:520|ORPHA:98833|ORPHA:98834|ORPHA:98842	Leukemia, Acute Myeloid|Dyskeratosis Congenita|Primary Cutaneous Anaplastic Large Cell Lymphoma|Acute Myeloid Leukemia With Npm1 Somatic Mutations|Acute Promyelocytic Leukemia|Acute Myeloblastic Leukemia Without Maturation|Acute Myeloblastic Leukemia With Maturation|Lymphomatoid Papulosis	no	no	no	no	NA
NPM2	HGNC:7930	MGI:1890811	-	-	no	no	no	no	NA
NPM3	HGNC:7931	MGI:894653	-	-	yes	no	no	no	NA
NPNT	HGNC:27405	MGI:2148811	-	-	no	no	no	no	NA
NPPA	HGNC:7939	MGI:97367	OMIM:612201|OMIM:615745|ORPHA:1344|ORPHA:334	Atrial Fibrillation, Familial, 6|Atrial Standstill 2|Atrial Standstill|Familial Atrial Fibrillation	no	no	no	no	NA
NPPB	HGNC:7940	MGI:97368	-	-	no	no	no	no	NA
NPPC	HGNC:7941	MGI:97369	-	-	no	no	no	no	NA
NPR1	HGNC:7943	MGI:97371	-	-	no	no	no	no	NA
NPR2	HGNC:7944	MGI:97372	OMIM:602875|OMIM:615923|OMIM:616255|ORPHA:40|ORPHA:329191	Acromesomelic Dysplasia 1|Epiphyseal Chondrodysplasia, Miura Type|Short Stature With Nonspecific Skeletal Abnormalities|Acromesomelic Dysplasia, Maroteaux Type|Tall Stature-Long Halluces-Multiple Extra-Epiphyses Syndrome	yes	yes	yes	yes	36.67
NPR3	HGNC:7945	MGI:97373	OMIM:619543	Boudin-Mortier Syndrome	yes	yes	yes	yes	23.665
NPRL2	HGNC:24969	MGI:1914482	OMIM:617116|ORPHA:98820	Epilepsy, Familial Focal, With Variable Foci 2|Familial Focal Epilepsy With Variable Foci	no	no	no	no	NA
NPRL3	HGNC:14124	MGI:109258	OMIM:617118|ORPHA:98820	Epilepsy, Familial Focal, With Variable Foci 3|Familial Focal Epilepsy With Variable Foci	no	no	no	no	NA
NPS	HGNC:33940	MGI:3642232	-	-	no	no	no	no	NA
NPSR1	HGNC:23631	MGI:2441738	OMIM:608584	Asthma-Related Traits, Susceptibility To, 2	yes	yes	no	no	NA
NPTN	HGNC:17867	MGI:108077	-	-	yes	no	no	no	NA
NPTX1	HGNC:7952	MGI:107811	OMIM:620158	Spinocerebellar Ataxia 50	no	no	no	no	NA
NPTX2	HGNC:7953	MGI:1858209	-	-	no	no	no	no	NA
NPTXR	HGNC:7954	MGI:1920590	-	-	no	no	no	no	NA
NPVF	HGNC:13782	MGI:1926488	-	-	no	no	no	no	NA
NPW	HGNC:30509	MGI:2685781	-	-	no	no	no	no	NA
NPY	HGNC:7955	MGI:97374	-	-	no	no	no	no	NA
NPY1R	HGNC:7956	MGI:104963	-	-	no	no	no	no	NA
NPY2R	HGNC:7957	MGI:108418	-	-	yes	no	no	no	NA
NPY4R	HGNC:9329	MGI:105374	-	-	no	no	no	no	NA
NPY5R	HGNC:7958	MGI:108082	-	-	yes	no	no	no	NA
NQO1	HGNC:2874	MGI:103187	-	-	no	no	no	no	NA
NQO2	HGNC:7856	MGI:104513	OMIM:114480	Breast Cancer	no	no	no	no	NA
NR0B1	HGNC:7960	MGI:1352460	OMIM:300018|OMIM:300200|ORPHA:242|ORPHA:251510|ORPHA:393|ORPHA:95702	46,Xy Sex Reversal 2|Adrenal Hypoplasia, Congenital|46,Xy Complete Gonadal Dysgenesis|46,Xy Partial Gonadal Dysgenesis|46,Xx Testicular Difference Of Sex Development|X-Linked Adrenal Hypoplasia Congenita	yes	yes	yes	yes	41.535
NR0B2	HGNC:7961	MGI:1346344	OMIM:601665	Obesity	yes	yes	yes	no	NA
NR1D1	HGNC:7962	MGI:2444210	-	-	yes	no	no	no	NA
NR1D2	HGNC:7963	MGI:2449205	-	-	yes	no	no	no	NA
NR1H2	HGNC:7965	MGI:1352463	-	-	no	no	no	no	NA
NR1H3	HGNC:7966	MGI:1352462	-	-	yes	no	no	no	NA
NR1H4	HGNC:7967	MGI:1352464	OMIM:617049|ORPHA:480476|ORPHA:69665	Cholestasis, Progressive Familial Intrahepatic, 5|Progressive Familial Intrahepatic Cholestasis Type 5|Intrahepatic Cholestasis Of Pregnancy	yes	yes	yes	yes	37.3
NR1I2	HGNC:7968	MGI:1337040	-	-	yes	no	no	no	NA
NR1I3	HGNC:7969	MGI:1346307	-	-	no	no	no	no	NA
NR2C1	HGNC:7971	MGI:1352465	-	-	no	no	no	no	NA
NR2C2	HGNC:7972	MGI:1352466	-	-	yes	no	no	no	NA
NR2C2AP	HGNC:30763	MGI:1922942	-	-	no	no	no	no	NA
NR2E1	HGNC:7973	MGI:1100526	-	-	no	no	no	no	NA
NR2E3	HGNC:7974	MGI:1346317	OMIM:268100|OMIM:611131|ORPHA:791|ORPHA:53540	Enhanced S-Cone Syndrome|Retinitis Pigmentosa 37|Retinitis Pigmentosa|Goldmann-Favre Syndrome	no	no	no	no	NA
NR2F1	HGNC:7975	MGI:1352451	OMIM:615722|ORPHA:401777	Bosch-Boonstra-Schaaf Optic Atrophy Syndrome|Optic Atrophy-Intellectual Disability Syndrome	yes	yes	yes	yes	22.3
NR2F2	HGNC:7976	MGI:1352452	OMIM:618901|OMIM:615779|ORPHA:99068|ORPHA:99067	46,Xx Sex Reversal 5|Congenital Heart Defects, Multiple Types, 4|Complete Atrioventricular Septal Defect-Tetralogy Of Fallot|Complete Atrioventricular Septal Defect With Ventricular Hypoplasia	no	no	no	no	NA
NR2F6	HGNC:7977	MGI:1352453	-	-	yes	no	no	no	NA
NR3C1	HGNC:7978	MGI:95824	OMIM:615962|ORPHA:786|ORPHA:96253	Glucocorticoid Resistance, Generalized|Generalized Glucocorticoid Resistance Syndrome|Cushing Disease	no	no	no	no	NA
NR3C2	HGNC:7979	MGI:99459	OMIM:605115|OMIM:177735|ORPHA:171871	Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy|Pseudohypoaldosteronism, Type I, Autosomal Dominant|Renal Pseudohypoaldosteronism Type 1	yes	yes	yes	no	NA
NR4A1	HGNC:7980	MGI:1352454	-	-	no	no	no	no	NA
NR4A2	HGNC:7981	MGI:1352456	OMIM:619911|ORPHA:98808	Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism|Autosomal Dominant Dopa-Responsive Dystonia	no	no	no	no	NA
NR4A3	HGNC:7982	MGI:1352457	OMIM:612237|ORPHA:209916	Chondrosarcoma, Extraskeletal Myxoid|Extraskeletal Myxoid Chondrosarcoma	no	no	no	no	NA
NR5A1	HGNC:7983	MGI:1346833	OMIM:617480|OMIM:612965|OMIM:612964|OMIM:613957|ORPHA:243|ORPHA:242|ORPHA:2138|ORPHA:251510|ORPHA:619|ORPHA:393|ORPHA:399805	46,Xx Sex Reversal 4|46,Xy Sex Reversal 3|Premature Ovarian Failure 7|Spermatogenic Failure 8|46,Xx Gonadal Dysgenesis|46,Xy Complete Gonadal Dysgenesis|46,Xx Ovotesticular Difference Of Sex Development|46,Xy Partial Gonadal Dysgenesis|Non Rare In Europe: Primary Ovarian Failure|46,Xx Testicular Difference Of Sex Development|Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	no	no	no	no	NA
NR5A2	HGNC:7984	MGI:1346834	-	-	no	no	no	no	NA
NR6A1	HGNC:7985	MGI:1352459	-	-	yes	no	no	no	NA
NRAP	HGNC:7988	MGI:1098765	-	-	yes	no	no	no	NA
NRARP	HGNC:33843	MGI:1914372	-	-	no	no	no	no	NA
NRAS	HGNC:7989	MGI:97376	OMIM:614470|OMIM:114500|OMIM:162900|OMIM:137550|OMIM:249400|OMIM:613224|OMIM:163200|OMIM:188470|ORPHA:648|ORPHA:626|ORPHA:2612|ORPHA:146|ORPHA:268114|ORPHA:389|ORPHA:411533|ORPHA:86834	Ras-Associated Autoimmune Leukoproliferative Disorder|Colorectal Cancer|Nevus, Epidermal|Melanocytic Nevus Syndrome, Congenital|Melanosis, Neurocutaneous|Noonan Syndrome 6|Schimmelpenning-Feuerstein-Mims Syndrome|Thyroid Cancer, Nonmedullary, 2|Noonan Syndrome|Large Congenital Melanocytic Nevus|Linear Nevus Sebaceus Syndrome|Differentiated Thyroid Carcinoma|Ras-Associated Autoimmune Leukoproliferative Disease|Langerhans Cell Histiocytosis|Non Rare In Europe: Melanoma|Juvenile Myelomonocytic Leukemia	yes	yes	yes	yes	21.69
NRBF2	HGNC:19692	MGI:1354950	-	-	no	no	no	no	NA
NRBP1	HGNC:7993	MGI:2183436	-	-	yes	no	no	no	NA
NRBP2	HGNC:19339	MGI:2385017	-	-	yes	no	no	no	NA
NRCAM	HGNC:7994	MGI:104750	OMIM:619833|ORPHA:528084	Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities|Non-Specific Syndromic Intellectual Disability	yes	yes	yes	no	NA
NRDC	HGNC:7995	MGI:1201386	-	-	no	no	no	no	NA
NRDE2	HGNC:20186	MGI:2670969	-	-	yes	no	no	no	NA
NREP	HGNC:16834	MGI:99444	-	-	no	no	no	no	NA
NRF1	HGNC:7996	MGI:1332235	-	-	no	no	no	no	NA
NRG2	HGNC:7998	MGI:1098246	-	-	no	no	no	no	NA
NRG3	HGNC:7999	MGI:1097165	-	-	no	no	no	no	NA
NRG4	HGNC:29862	MGI:1933833	-	-	yes	no	no	no	NA
NRGN	HGNC:8000	MGI:1927184	-	-	yes	no	no	no	NA
NRIP1	HGNC:8001	MGI:1315213	OMIM:618270	Congenital Anomalies Of Kidney And Urinary Tract 3	no	no	no	no	NA
NRIP2	HGNC:23078	MGI:1891884	-	-	no	no	no	no	NA
NRIP3	HGNC:1167	MGI:1925843	-	-	no	no	no	no	NA
NRK	HGNC:25391	MGI:1351326	-	-	no	no	no	no	NA
NRL	HGNC:8002	MGI:102567	OMIM:613750|ORPHA:791	Retinitis Pigmentosa 27|Retinitis Pigmentosa	no	no	no	no	NA
NRM	HGNC:8003	MGI:2146855	-	-	no	no	no	no	NA
NRN1	HGNC:17972	MGI:1915654	-	-	no	no	no	no	NA
NRN1L	HGNC:29811	MGI:2443642	-	-	yes	no	no	no	NA
NRP1	HGNC:8004	MGI:106206	-	-	yes	no	no	no	NA
NRP2	HGNC:8005	MGI:1100492	-	-	no	no	no	no	NA
NRROS	HGNC:24613	MGI:2445095	OMIM:618875	Seizures, Early-Onset, With Neurodegeneration And Brain Calcifications	yes	yes	yes	no	NA
NRSN1	HGNC:17881	MGI:894662	-	-	yes	no	no	no	NA
NRSN2	HGNC:16229	MGI:2684969	-	-	yes	no	no	no	NA
NRTN	HGNC:8007	MGI:108417	ORPHA:388	Hirschsprung Disease	no	no	no	no	NA
NRXN1	HGNC:8008	MGI:1096391	OMIM:614325|OMIM:614332|ORPHA:106|ORPHA:600663	Pitt-Hopkins-Like Syndrome 2|Chromosome 2P16.3 Deletion Syndrome|Non Rare In Europe: Autism|Nrxn1-Related Severe Neurodevelopmental Disorder-Motor Stereotypies-Chronic Constipation-Sleep-Wake Cycle Disturbance	yes	yes	yes	yes	23.79
NRXN2	HGNC:8009	MGI:1096362	-	-	yes	no	no	no	NA
NRXN3	HGNC:8010	MGI:1096389	-	-	no	no	no	no	NA
NSA2	HGNC:30728	MGI:1913883	-	-	yes	no	no	no	NA
NSD1	HGNC:14234	MGI:1276545	OMIM:117550|ORPHA:821|ORPHA:3447|ORPHA:1627|ORPHA:228415|ORPHA:238613	Sotos Syndrome|Weaver Syndrome|Deletion 5Q35|5Q35 Microduplication Syndrome|Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation	no	no	no	no	NA
NSD2	HGNC:12766	MGI:1276574	OMIM:619695|ORPHA:280	Rauch-Steindl Syndrome|Wolf-Hirschhorn Syndrome	no	no	no	no	NA
NSD3	HGNC:12767	MGI:2142581	-	-	yes	no	no	no	NA
NSDHL	HGNC:13398	MGI:1099438	OMIM:308050|OMIM:300831|ORPHA:139|ORPHA:251383	Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects|Ck Syndrome|Child Syndrome	no	no	no	no	NA
NSF	HGNC:8016	MGI:104560	OMIM:619340	Developmental And Epileptic Encephalopathy 96	yes	yes	yes	no	NA
NSFL1C	HGNC:15912	MGI:3042273	-	-	no	no	no	no	NA
NSG1	HGNC:18790	MGI:109149	-	-	yes	no	no	no	NA
NSG2	HGNC:24955	MGI:1202070	-	-	yes	no	no	no	NA
NSL1	HGNC:24548	MGI:2685830	-	-	yes	no	no	no	NA
NSMAF	HGNC:8017	MGI:1341864	-	-	no	no	no	no	NA
NSMCE1	HGNC:29897	MGI:1914961	-	-	yes	no	no	no	NA
NSMCE2	HGNC:26513	MGI:1915751	OMIM:617253|ORPHA:436182	Seckel Syndrome 10|Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	yes	yes	yes	yes	20.48
NSMCE3	HGNC:7677	MGI:1913897	OMIM:617241	Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	no	no	no	no	NA
NSMCE4A	HGNC:25935	MGI:1915122	-	-	no	no	no	no	NA
NSMF	HGNC:29843	MGI:1861755	OMIM:614838|ORPHA:432	Hypogonadotropic Hypogonadism 9 With Or Without Anosmia|Normosmic Congenital Hypogonadotropic Hypogonadism	yes	no	yes	no	NA
NSRP1	HGNC:25305	MGI:2144305	OMIM:620001	Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	yes	no	yes	no	NA
NSUN2	HGNC:25994	MGI:107252	OMIM:611091|ORPHA:235|ORPHA:88616	Intellectual Developmental Disorder, Autosomal Recessive 5|Dubowitz Syndrome|Autosomal Recessive Non-Syndromic Intellectual Disability	yes	yes	yes	yes	43.465
NSUN3	HGNC:26208	MGI:2146565	OMIM:619012	Combined Oxidative Phosphorylation Deficiency 48	no	no	no	no	NA
NSUN4	HGNC:31802	MGI:1919431	-	-	no	no	no	no	NA
NSUN5	HGNC:16385	MGI:2140844	-	-	yes	no	no	no	NA
NSUN6	HGNC:23529	MGI:1921705	-	-	no	no	no	no	NA
NSUN7	HGNC:25857	MGI:1918168	-	-	yes	no	no	no	NA
NT5C	HGNC:17144	MGI:1354954	-	-	yes	no	no	no	NA
NT5C1A	HGNC:17819	MGI:2155700	-	-	no	no	no	no	NA
NT5C1B	HGNC:17818	MGI:1918131	-	-	yes	no	no	no	NA
NT5C2	HGNC:8022	MGI:2178563	OMIM:613162|ORPHA:320396	Spastic Paraplegia 45, Autosomal Recessive|Autosomal Recessive Spastic Paraplegia Type 45	yes	yes	yes	no	NA
NT5C3A	HGNC:17820	MGI:1927186	OMIM:266120|ORPHA:35120	Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To|Hemolytic Anemia Due To Pyrimidine 5' Nucleotidase Deficiency	yes	yes	yes	yes	32.43
NT5C3B	HGNC:28300	MGI:1915356	-	-	no	no	no	no	NA
NT5DC1	HGNC:21556	MGI:2442446	-	-	yes	no	no	no	NA
NT5DC2	HGNC:25717	MGI:1917271	-	-	yes	no	no	no	NA
NT5DC3	HGNC:30826	MGI:3513266	-	-	yes	no	no	no	NA
NT5E	HGNC:8021	MGI:99782	OMIM:211800|ORPHA:289601	Calcification Of Joints And Arteries|Hereditary Arterial And Articular Multiple Calcification Syndrome	yes	yes	yes	no	NA
NT5M	HGNC:15769	MGI:1917127	-	-	no	no	no	no	NA
NTAN1	HGNC:29909	MGI:108471	-	-	no	no	no	no	NA
NTAQ1	HGNC:25490	MGI:1924023	-	-	yes	no	no	no	NA
NTF3	HGNC:8023	MGI:97380	-	-	no	no	no	no	NA
NTF4	HGNC:8024	MGI:97381	OMIM:613100|ORPHA:353225	Glaucoma 1, Open Angle, O|Non Rare In Europe: Primary Adult Open-Angle Glaucoma	yes	yes	yes	no	NA
NTHL1	HGNC:8028	MGI:1313275	OMIM:616415|ORPHA:454840	Familial Adenomatous Polyposis 3|Nthl1-Related Attenuated Familial Adenomatous Polyposis	yes	yes	yes	yes	18.455
NTM	HGNC:17941	MGI:2446259	-	-	no	no	no	no	NA
NTMT1	HGNC:23373	MGI:1913867	-	-	no	no	no	no	NA
NTMT2	HGNC:31932	MGI:2685053	-	-	yes	no	no	no	NA
NTN1	HGNC:8029	MGI:105088	OMIM:618264|ORPHA:238722	Mirror Movements 4|Familial Congenital Mirror Movements	no	no	no	no	NA
NTN3	HGNC:8030	MGI:1341188	-	-	no	no	no	no	NA
NTN4	HGNC:13658	MGI:1888978	-	-	yes	no	no	no	NA
NTN5	HGNC:25208	MGI:2685330	-	-	no	no	no	no	NA
NTNG1	HGNC:23319	MGI:1934028	ORPHA:3095|ORPHA:528084	Atypical Rett Syndrome|Non-Specific Syndromic Intellectual Disability	no	no	no	no	NA
NTNG2	HGNC:14288	MGI:2159341	OMIM:618718|ORPHA:528084	Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia|Non-Specific Syndromic Intellectual Disability	no	no	no	no	NA
NTPCR	HGNC:28204	MGI:1913816	-	-	no	no	no	no	NA
NTRK1	HGNC:8031	MGI:97383	OMIM:256800|ORPHA:642|ORPHA:146|ORPHA:64752|ORPHA:99361	Insensitivity To Pain, Congenital, With Anhidrosis|Hereditary Sensory And Autonomic Neuropathy Type 4|Differentiated Thyroid Carcinoma|Hereditary Sensory And Autonomic Neuropathy Type 5|Familial Medullary Thyroid Carcinoma	yes	yes	yes	yes	15.45
NTRK2	HGNC:8032	MGI:97384	OMIM:617830|OMIM:613886|ORPHA:3451|ORPHA:251615|ORPHA:442835	Developmental And Epileptic Encephalopathy 58|Obesity, Hyperphagia, And Developmental Delay|Infantile Spasms Syndrome|Pilomyxoid Astrocytoma|Non-Specific Early-Onset Epileptic Encephalopathy	yes	yes	yes	yes	19.33
NTRK3	HGNC:8033	MGI:97385	ORPHA:2665|ORPHA:146|ORPHA:2030	Congenital Mesoblastic Nephroma|Differentiated Thyroid Carcinoma|Fibrosarcoma	no	no	no	no	NA
NTS	HGNC:8038	MGI:1328351	-	-	no	no	no	no	NA
NTSR1	HGNC:8039	MGI:97386	-	-	no	no	no	no	NA
NTSR2	HGNC:8040	MGI:108018	-	-	no	no	no	no	NA
NUAK1	HGNC:14311	MGI:1925226	-	-	no	no	no	no	NA
NUAK2	HGNC:29558	MGI:1921387	OMIM:619452|ORPHA:563609	Anencephaly 2|Isolated Anencephaly	no	no	no	no	NA
NUB1	HGNC:17623	MGI:1889001	-	-	yes	no	no	no	NA
NUBP1	HGNC:8041	MGI:1347073	-	-	no	no	no	no	NA
NUBP2	HGNC:8042	MGI:1347072	-	-	yes	no	no	no	NA
NUBPL	HGNC:20278	MGI:1924076	OMIM:618242|ORPHA:2609	Mitochondrial Complex I Deficiency, Nuclear Type 21|Isolated Complex I Deficiency	yes	yes	yes	no	NA
NUCB1	HGNC:8043	MGI:97388	-	-	yes	no	no	no	NA
NUCB2	HGNC:8044	MGI:1858179	-	-	no	no	no	no	NA
NUCKS1	HGNC:29923	MGI:1934811	-	-	yes	no	no	no	NA
NUDC	HGNC:8045	MGI:106014	-	-	yes	no	no	no	NA
NUDCD1	HGNC:24306	MGI:1914679	-	-	no	no	no	no	NA
NUDCD2	HGNC:30535	MGI:1277103	-	-	yes	no	no	no	NA
NUDCD3	HGNC:22208	MGI:2144158	-	-	yes	no	no	no	NA
NUDT1	HGNC:8048	MGI:109280	-	-	no	no	no	no	NA
NUDT12	HGNC:18826	MGI:1915243	-	-	yes	no	no	no	NA
NUDT13	HGNC:18827	MGI:1914975	-	-	yes	no	no	no	NA
NUDT14	HGNC:20141	MGI:1913424	-	-	yes	no	no	no	NA
NUDT15	HGNC:23063	MGI:2443366	OMIM:616903	Thiopurines, Poor Metabolism Of, 2	no	no	no	no	NA
NUDT16	HGNC:26442	MGI:1922936	-	-	no	no	no	no	NA
NUDT16L1	HGNC:28154	MGI:1914161	-	-	yes	no	no	no	NA
NUDT17	HGNC:26618	MGI:1925623	-	-	no	no	no	no	NA
NUDT18	HGNC:26194	MGI:2385853	-	-	no	no	no	no	NA
NUDT19	HGNC:32036	MGI:94203	-	-	yes	no	no	no	NA
NUDT2	HGNC:8049	MGI:1913651	OMIM:619844	Intellectual Developmental Disorder With Or Without Peripheral Neuropathy	no	no	no	no	NA
NUDT21	HGNC:13870	MGI:1915469	-	-	yes	no	no	no	NA
NUDT22	HGNC:28189	MGI:1915573	-	-	no	no	no	no	NA
NUDT3	HGNC:8050	MGI:1928484	-	-	no	no	no	no	NA
NUDT4	HGNC:8051	MGI:1918457	-	-	no	no	no	no	NA
NUDT5	HGNC:8052	MGI:1858232	-	-	yes	no	no	no	NA
NUDT6	HGNC:8053	MGI:2387618	-	-	yes	no	no	no	NA
NUDT7	HGNC:8054	MGI:1914778	-	-	no	no	no	no	NA
NUDT8	HGNC:8055	MGI:1913637	-	-	no	no	no	no	NA
NUDT9	HGNC:8056	MGI:1921417	-	-	no	no	no	no	NA
NUF2	HGNC:14621	MGI:1914227	-	-	no	no	no	no	NA
NUFIP1	HGNC:8057	MGI:1351474	-	-	yes	no	no	no	NA
NUFIP2	HGNC:17634	MGI:1915814	-	-	yes	no	no	no	NA
NUGGC	HGNC:33550	MGI:2685446	-	-	yes	no	no	no	NA
NUMA1	HGNC:8059	MGI:2443665	OMIM:612376|ORPHA:520	Acute Promyelocytic Leukemia	no	no	no	no	NA
NUMB	HGNC:8060	MGI:107423	-	-	no	no	no	no	NA
NUMBL	HGNC:8061	MGI:894702	-	-	no	no	no	no	NA
NUP107	HGNC:29914	MGI:2143854	OMIM:618078|OMIM:618348|OMIM:616730|ORPHA:243|ORPHA:2065|ORPHA:656	Ovarian Dysgenesis 6|Galloway-Mowat Syndrome 7|Nephrotic Syndrome, Type 11|46,Xx Gonadal Dysgenesis|Galloway-Mowat Syndrome|Genetic Steroid-Resistant Nephrotic Syndrome	no	no	no	no	NA
NUP133	HGNC:18016	MGI:2442620	OMIM:618349|OMIM:618177|ORPHA:2065|ORPHA:656	Galloway-Mowat Syndrome 8|Nephrotic Syndrome, Type 18|Galloway-Mowat Syndrome|Genetic Steroid-Resistant Nephrotic Syndrome	yes	yes	yes	no	NA
NUP153	HGNC:8062	MGI:2385621	-	-	yes	no	no	no	NA
NUP155	HGNC:8063	MGI:2181182	OMIM:615770|ORPHA:334	Atrial Fibrillation, Familial, 15|Familial Atrial Fibrillation	yes	yes	yes	no	NA
NUP160	HGNC:18017	MGI:1926227	OMIM:618178|ORPHA:656	Nephrotic Syndrome, Type 19|Genetic Steroid-Resistant Nephrotic Syndrome	no	no	no	no	NA
NUP188	HGNC:17859	MGI:2446190	OMIM:618804	Sandestig-Stefanova Syndrome	no	no	no	no	NA
NUP205	HGNC:18658	MGI:2141625	OMIM:616893|ORPHA:656	Nephrotic Syndrome, Type 13|Genetic Steroid-Resistant Nephrotic Syndrome	yes	yes	yes	yes	19.095
NUP210	HGNC:30052	MGI:1859555	-	-	yes	no	no	no	NA
NUP210L	HGNC:29915	MGI:1924845	-	-	no	no	no	no	NA
NUP214	HGNC:8064	MGI:1095411	OMIM:601626|OMIM:613065|OMIM:618426|ORPHA:402014|ORPHA:99861	Leukemia, Acute Myeloid|Leukemia, Acute Lymphoblastic|Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9|Acute Myeloid Leukemia With T(6;9)(P23;Q34)|Precursor T-Cell Acute Lymphoblastic Leukemia	no	no	no	no	NA
NUP35	HGNC:29797	MGI:1916732	-	-	yes	no	no	no	NA
NUP37	HGNC:29929	MGI:1919964	OMIM:618179|ORPHA:2512|ORPHA:656	Microcephaly 24, Primary, Autosomal Recessive|Autosomal Recessive Primary Microcephaly|Genetic Steroid-Resistant Nephrotic Syndrome	yes	yes	yes	no	NA
NUP42	HGNC:17010	MGI:2387631	-	-	no	no	no	no	NA
NUP43	HGNC:21182	MGI:1917162	-	-	no	no	no	no	NA
NUP50	HGNC:8065	MGI:1351502	-	-	no	no	no	no	NA
NUP54	HGNC:17359	MGI:1920460	OMIM:620427|ORPHA:225154	Dystonia 37, Early-Onset, With Striatal Lesions|Familial Infantile Bilateral Striatal Necrosis	yes	yes	yes	no	NA
NUP62	HGNC:8066	MGI:1351500	OMIM:271930|ORPHA:225154	Striatonigral Degeneration, Infantile|Familial Infantile Bilateral Striatal Necrosis	yes	yes	yes	yes	32.925
NUP62CL	HGNC:25960	MGI:2685565	-	-	yes	no	no	no	NA
NUP85	HGNC:8734	MGI:3046173	OMIM:618176|ORPHA:808|ORPHA:656	Nephrotic Syndrome, Type 17|Seckel Syndrome|Genetic Steroid-Resistant Nephrotic Syndrome	yes	yes	yes	no	NA
NUP88	HGNC:8067	MGI:104900	OMIM:618393|ORPHA:994	Fetal Akinesia Deformation Sequence 4|Fetal Akinesia Deformation Sequence	yes	no	yes	no	NA
NUP93	HGNC:28958	MGI:1919055	OMIM:616892|ORPHA:656	Nephrotic Syndrome, Type 12|Genetic Steroid-Resistant Nephrotic Syndrome	yes	yes	yes	no	NA
NUP98	HGNC:8068	MGI:109404	-	-	yes	no	no	no	NA
NUPR1	HGNC:29990	MGI:1891834	-	-	yes	no	no	no	NA
NUPR2	HGNC:44164	MGI:1923099	-	-	no	no	no	no	NA
NUS1	HGNC:21042	MGI:1196365	OMIM:617082|OMIM:617831|ORPHA:442835	Congenital Disorder Of Glycosylation, Type Iaa|Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures|Non-Specific Early-Onset Epileptic Encephalopathy	no	no	no	no	NA
NUSAP1	HGNC:18538	MGI:2675669	-	-	no	no	no	no	NA
NUTM1	HGNC:29919	MGI:2661384	ORPHA:443167	Nut Midline Carcinoma	yes	yes	yes	yes	16.895
NVL	HGNC:8070	MGI:1914709	-	-	no	no	no	no	NA
NWD1	HGNC:27619	MGI:2442268	-	-	no	no	no	no	NA
NWD2	HGNC:29229	MGI:1920464	-	-	yes	no	no	no	NA
NXF1	HGNC:8071	MGI:1858330	-	-	no	no	no	no	NA
NXF3	HGNC:8073	MGI:2685230	-	-	no	no	no	no	NA
NXN	HGNC:18008	MGI:109331	OMIM:618529|ORPHA:1507	Robinow Syndrome, Autosomal Recessive 2|Autosomal Recessive Robinow Syndrome	yes	yes	yes	yes	51.29
NXNL1	HGNC:25179	MGI:1924446	-	-	no	no	no	no	NA
NXNL2	HGNC:30482	MGI:1922374	-	-	yes	no	no	no	NA
NXPE2	HGNC:26331	MGI:1925502	-	-	no	no	no	no	NA
NXPE3	HGNC:28238	MGI:2686598	-	-	no	no	no	no	NA
NXPE4	HGNC:23117	MGI:1924792	-	-	no	no	no	no	NA
NXPH1	HGNC:20693	MGI:107492	-	-	no	no	no	no	NA
NXPH2	HGNC:8076	MGI:107491	-	-	no	no	no	no	NA
NXPH3	HGNC:8077	MGI:1336188	-	-	no	no	no	no	NA
NXPH4	HGNC:8078	MGI:1336197	-	-	no	no	no	no	NA
NXT1	HGNC:15913	MGI:1929619	-	-	no	no	no	no	NA
NXT2	HGNC:18151	MGI:2147914	-	-	no	no	no	no	NA
NYAP1	HGNC:22009	MGI:2443880	-	-	yes	no	no	no	NA
NYAP2	HGNC:29291	MGI:2443135	-	-	no	no	no	no	NA
NYNRIN	HGNC:20165	MGI:2652872	-	-	yes	no	no	no	NA
NYX	HGNC:8082	MGI:2448607	OMIM:310500|ORPHA:215	Night Blindness, Congenital Stationary, Type 1A|Congenital Stationary Night Blindness	no	no	no	no	NA
OAF	HGNC:28752	MGI:94852	-	-	yes	no	no	no	NA
OARD1	HGNC:21257	MGI:2146818	-	-	yes	no	no	no	NA
OAS2	HGNC:8087	MGI:2180852	-	-	no	no	no	no	NA
OAS3	HGNC:8088	MGI:2180850	-	-	yes	no	no	no	NA
OASL	HGNC:8090	MGI:2180849	-	-	yes	no	no	no	NA
OAT	HGNC:8091	MGI:97394	OMIM:258870|ORPHA:414	Gyrate Atrophy Of Choroid And Retina	no	no	no	no	NA
OAZ1	HGNC:8095	MGI:109433	-	-	no	no	no	no	NA
OAZ2	HGNC:8096	MGI:109492	-	-	yes	no	no	no	NA
OAZ3	HGNC:8097	MGI:1858170	-	-	no	no	no	no	NA
OBI1	HGNC:20308	MGI:1919736	-	-	no	no	no	no	NA
OBSCN	HGNC:15719	MGI:2681862	OMIM:620235|ORPHA:99845	Rhabdomyolysis, Susceptibility To, 1|Genetic Recurrent Myoglobinuria	no	no	no	no	NA
OBSL1	HGNC:29092	MGI:2138628	OMIM:612921|ORPHA:2616	Three M Syndrome 2|3M Syndrome	no	no	no	no	NA
OC90	HGNC:8100	MGI:1313269	-	-	no	no	no	no	NA
OCA2	HGNC:8101	MGI:97454	OMIM:203200|OMIM:227220|ORPHA:177901|ORPHA:177904|ORPHA:79432|ORPHA:98794|ORPHA:98754	Albinism, Oculocutaneous, Type Ii|Skin/Hair/Eye Pigmentation, Variation In, 1|Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1|Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2|Oculocutaneous Albinism Type 2|Angelman Syndrome Due To Maternal 15Q11Q13 Deletion|Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	no	no	no	no	NA
OCEL1	HGNC:26221	MGI:1924340	-	-	no	no	no	no	NA
OCIAD1	HGNC:16074	MGI:1915345	-	-	yes	no	no	no	NA
OCIAD2	HGNC:28685	MGI:1916377	-	-	yes	no	no	no	NA
OCLN	HGNC:8104	MGI:106183	OMIM:251290|ORPHA:1229	Pseudo-Torch Syndrome 1|Congenital Intrauterine Infection-Like Syndrome	no	no	no	no	NA
OCRL	HGNC:8108	MGI:109589	OMIM:300555|OMIM:309000|ORPHA:534|ORPHA:93623	Dent Disease 2|Lowe Oculocerebrorenal Syndrome|Oculocerebrorenal Syndrome Of Lowe|Dent Disease Type 2	no	no	no	no	NA
OCSTAMP	HGNC:16116	MGI:1921864	-	-	yes	no	no	no	NA
ODAD1	HGNC:26560	MGI:2446120	OMIM:615067|ORPHA:244	Ciliary Dyskinesia, Primary, 20|Primary Ciliary Dyskinesia	yes	yes	yes	no	NA
ODAD2	HGNC:25583	MGI:1922184	OMIM:615451|ORPHA:244	Ciliary Dyskinesia, Primary, 23|Primary Ciliary Dyskinesia	yes	yes	yes	yes	43.33
ODAD3	HGNC:28303	MGI:1924859	OMIM:616037|ORPHA:244	Ciliary Dyskinesia, Primary, 30|Primary Ciliary Dyskinesia	yes	yes	yes	no	NA
ODAD4	HGNC:25280	MGI:1921657	OMIM:617092|ORPHA:244	Ciliary Dyskinesia, Primary, 35|Primary Ciliary Dyskinesia	no	no	no	no	NA
ODAM	HGNC:26043	MGI:1916842	-	-	no	no	no	no	NA
ODAPH	HGNC:26300	MGI:2685891	OMIM:614832|ORPHA:100033	Amelogenesis Imperfecta, Hypomaturation Type, Iia4|Hypomaturation Amelogenesis Imperfecta	yes	yes	yes	yes	52.99
ODC1	HGNC:8109	MGI:97402	OMIM:619075|ORPHA:544488	Bachmann-Bupp Syndrome|Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	yes	yes	yes	no	NA
ODF1	HGNC:8113	MGI:97424	-	-	yes	no	no	no	NA
ODF2	HGNC:8114	MGI:1098824	-	-	no	no	no	no	NA
ODF2L	HGNC:29225	MGI:1098600	-	-	yes	no	no	no	NA
ODF4	HGNC:19056	MGI:2182079	-	-	yes	no	no	no	NA
ODR4	HGNC:24299	MGI:2385108	-	-	no	no	no	no	NA
OFD1	HGNC:2567	MGI:1350328	OMIM:300424|OMIM:300804|OMIM:311200|OMIM:300209|ORPHA:244|ORPHA:791|ORPHA:475|ORPHA:2754|ORPHA:2750	Retinitis Pigmentosa 23|Joubert Syndrome 10|Orofaciodigital Syndrome I|Simpson-Golabi-Behmel Syndrome, Type 2|Primary Ciliary Dyskinesia|Retinitis Pigmentosa|Joubert Syndrome|Orofaciodigital Syndrome Type 6|Orofaciodigital Syndrome Type 1	no	no	no	no	NA
OGA	HGNC:7056	MGI:1932139	-	-	no	no	no	no	NA
OGDH	HGNC:8124	MGI:1098267	OMIM:203740|ORPHA:31	Oxoglutarate Dehydrogenase Deficiency|Oxoglutaric Aciduria	yes	yes	yes	no	NA
OGDHL	HGNC:25590	MGI:3616088	OMIM:619701	Yoon-Bellen Neurodevelopmental Syndrome	yes	no	yes	no	NA
OGFOD1	HGNC:25585	MGI:2442978	-	-	yes	no	no	no	NA
OGFOD2	HGNC:25823	MGI:1913877	-	-	no	no	no	no	NA
OGFOD3	HGNC:26174	MGI:1913429	-	-	yes	no	no	no	NA
OGFR	HGNC:15768	MGI:1919325	-	-	yes	no	no	no	NA
OGFRL1	HGNC:21378	MGI:1917405	-	-	no	no	no	no	NA
OGG1	HGNC:8125	MGI:1097693	OMIM:144700|ORPHA:422526	Renal Cell Carcinoma, Nonpapillary|Hereditary Clear Cell Renal Cell Carcinoma	no	no	no	no	NA
OGN	HGNC:8126	MGI:109278	-	-	yes	no	no	no	NA
OGT	HGNC:8127	MGI:1339639	OMIM:300997	Intellectual Developmental Disorder, X-Linked 106	no	no	no	no	NA
OIP5	HGNC:20300	MGI:1917895	-	-	no	no	no	no	NA
OIT3	HGNC:29953	MGI:1201782	-	-	no	no	no	no	NA
OLA1	HGNC:28833	MGI:1914309	-	-	yes	no	no	no	NA
OLAH	HGNC:25625	MGI:2139018	-	-	yes	no	no	no	NA
OLFM1	HGNC:17187	MGI:1860437	-	-	no	no	no	no	NA
OLFM2	HGNC:17189	MGI:3045350	-	-	no	no	no	no	NA
OLFM3	HGNC:17990	MGI:2387329	-	-	no	no	no	no	NA
OLFM4	HGNC:17190	MGI:2685142	-	-	yes	no	no	no	NA
OLFML1	HGNC:24473	MGI:2679264	-	-	no	no	no	no	NA
OLFML2A	HGNC:27270	MGI:2444741	-	-	no	no	no	no	NA
OLFML2B	HGNC:24558	MGI:2443310	-	-	yes	no	no	no	NA
OLFML3	HGNC:24956	MGI:1914877	-	-	no	no	no	no	NA
OLIG1	HGNC:16983	MGI:1355334	-	-	yes	no	no	no	NA
OLIG2	HGNC:9398	MGI:1355331	-	-	no	no	no	no	NA
OLIG3	HGNC:18003	MGI:2149955	-	-	no	no	no	no	NA
OLR1	HGNC:8133	MGI:1261434	OMIM:608446	Myocardial Infarction, Susceptibility To	no	no	no	no	NA
OMA1	HGNC:29661	MGI:1914263	-	-	yes	no	no	no	NA
OMD	HGNC:8134	MGI:1350918	-	-	yes	no	no	no	NA
OMG	HGNC:8135	MGI:106586	-	-	no	no	no	no	NA
OMP	HGNC:8136	MGI:97436	-	-	no	no	no	no	NA
ONECUT1	HGNC:8138	MGI:1196423	-	-	no	no	no	no	NA
ONECUT2	HGNC:8139	MGI:1891408	-	-	no	no	no	no	NA
ONECUT3	HGNC:13399	MGI:1891409	-	-	no	no	no	no	NA
OOEP	HGNC:21382	MGI:1915218	-	-	no	no	no	no	NA
OOSP1	HGNC:49233	MGI:2149290	-	-	no	no	no	no	NA
OOSP2	HGNC:26699	MGI:2684945	-	-	no	no	no	no	NA
OPA1	HGNC:8140	MGI:1921393	OMIM:616896|OMIM:210000|OMIM:165500|OMIM:125250|OMIM:606657|ORPHA:1215|ORPHA:98673	Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)|Behr Syndrome|Optic Atrophy 1|Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy|Glaucoma, Normal Tension, Susceptibility To|Autosomal Dominant Optic Atrophy Plus Syndrome|Autosomal Dominant Optic Atrophy, Classic Form	yes	yes	yes	yes	23.28
OPA3	HGNC:8142	MGI:2686271	OMIM:258501|OMIM:165300|ORPHA:67047|ORPHA:67036	3-Methylglutaconic Aciduria, Type Iii|Optic Atrophy 3, Autosomal Dominant|3-Methylglutaconic Aciduria Type 3|Autosomal Dominant Optic Atrophy And Cataract	no	no	no	no	NA
OPALIN	HGNC:20707	MGI:2657025	-	-	no	no	no	no	NA
OPCML	HGNC:8143	MGI:97397	OMIM:167000	Ovarian Cancer	yes	no	yes	no	NA
OPHN1	HGNC:8148	MGI:2151070	OMIM:300486|ORPHA:137831	Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type|X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome	no	no	no	no	NA
OPLAH	HGNC:8149	MGI:1922725	OMIM:260005|ORPHA:33572	5-Oxoprolinase Deficiency	yes	yes	yes	no	NA
OPN1SW	HGNC:1012	MGI:99438	OMIM:190900|ORPHA:88629	Tritanopia	no	no	no	no	NA
OPN3	HGNC:14007	MGI:1338022	-	-	yes	no	no	no	NA
OPN4	HGNC:14449	MGI:1353425	-	-	no	no	no	no	NA
OPN5	HGNC:19992	MGI:2662912	-	-	no	no	no	no	NA
OPRD1	HGNC:8153	MGI:97438	-	-	no	no	no	no	NA
OPRK1	HGNC:8154	MGI:97439	-	-	no	no	no	no	NA
OPRL1	HGNC:8155	MGI:97440	-	-	yes	no	no	no	NA
OPRM1	HGNC:8156	MGI:97441	-	-	no	no	no	no	NA
OPTC	HGNC:8158	MGI:2151113	-	-	no	no	no	no	NA
OPTN	HGNC:17142	MGI:1918898	OMIM:613435|OMIM:137760|OMIM:606657|ORPHA:803|ORPHA:353225	Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia|Glaucoma, Primary Open Angle|Glaucoma, Normal Tension, Susceptibility To|Amyotrophic Lateral Sclerosis|Non Rare In Europe: Primary Adult Open-Angle Glaucoma	yes	yes	yes	no	NA
OR10A4	HGNC:15130	MGI:109148	-	-	no	no	no	no	NA
OR10C1	HGNC:8165	MGI:2177478	-	-	no	no	no	no	NA
OR10D3	HGNC:8168	MGI:3030792	-	-	no	no	no	no	NA
OR10G6	HGNC:14836	MGI:3030815	-	-	no	no	no	no	NA
OR10J5	HGNC:14993	MGI:106648	-	-	no	no	no	no	NA
OR10K2	HGNC:14826	MGI:3030204	-	-	no	no	no	no	NA
OR10P1	HGNC:15378	MGI:3030630	-	-	no	no	no	no	NA
OR10S1	HGNC:14807	MGI:3030816	-	-	no	no	no	no	NA
OR10V1	HGNC:15136	MGI:3031254	-	-	no	no	no	no	NA
OR10W1	HGNC:15139	MGI:3031324	-	-	no	no	no	no	NA
OR10Z1	HGNC:14996	MGI:3030253	-	-	no	no	no	no	NA
OR11A1	HGNC:8176	MGI:2177479	-	-	no	no	no	no	NA
OR11G2	HGNC:15346	MGI:3030578	-	-	no	no	no	no	NA
OR11H6	HGNC:15349	MGI:3030579	-	-	no	no	no	no	NA
OR11L1	HGNC:14998	MGI:3030157	-	-	no	no	no	no	NA
OR12D3	HGNC:13963	MGI:2177492	-	-	no	no	no	no	NA
OR13A1	HGNC:14772	MGI:3030045	-	-	no	no	no	no	NA
OR13C3	HGNC:14704	MGI:3030107	-	-	no	no	no	no	NA
OR13C8	HGNC:15103	MGI:3030106	-	-	no	no	no	no	NA
OR13D1	HGNC:14695	MGI:3030104	-	-	no	no	no	no	NA
OR13F1	HGNC:14723	MGI:3030109	-	-	no	no	no	no	NA
OR13G1	HGNC:14999	MGI:3030143	-	-	no	no	no	no	NA
OR13J1	HGNC:15108	MGI:1860080	-	-	no	no	no	no	NA
OR14J1	HGNC:13971	MGI:2177508	-	-	no	no	no	no	NA
OR1B1	HGNC:8181	MGI:3030196	-	-	no	no	no	no	NA
OR1D2	HGNC:8183	MGI:3030246	-	-	no	no	no	no	NA
OR1F1	HGNC:8194	MGI:3032605	-	-	no	no	no	no	NA
OR1I1	HGNC:8207	MGI:3031191	-	-	no	no	no	no	NA
OR1J1	HGNC:8208	MGI:102697	-	-	no	no	no	no	NA
OR1J4	HGNC:8211	MGI:3030184	-	-	no	no	no	no	NA
OR1L8	HGNC:15110	MGI:3030189	-	-	no	no	no	no	NA
OR1M1	HGNC:8220	MGI:109311	-	-	no	no	no	no	NA
OR1N2	HGNC:15111	MGI:3030188	-	-	no	no	no	no	NA
OR1P1	HGNC:8222	MGI:3030240	-	-	no	no	no	no	NA
OR1Q1	HGNC:8223	MGI:3030191	-	-	no	no	no	no	NA
OR2A12	HGNC:15082	MGI:3030280	-	-	no	no	no	no	NA
OR2A2	HGNC:8230	MGI:3030271	-	-	no	no	no	no	NA
OR2A25	HGNC:19562	MGI:3030281	-	-	no	no	no	no	NA
OR2A5	HGNC:8232	MGI:3030282	-	-	no	no	no	no	NA
OR2AT4	HGNC:19620	MGI:3030354	-	-	no	no	no	no	NA
OR2B11	HGNC:31249	MGI:3030056	-	-	no	no	no	no	NA
OR2B6	HGNC:8241	MGI:104715	-	-	no	no	no	no	NA
OR2C1	HGNC:8242	MGI:106182	-	-	no	no	no	no	NA
OR2D3	HGNC:15146	MGI:3030550	-	-	no	no	no	no	NA
OR2I1P	HGNC:8258	MGI:2177477	-	-	no	no	no	no	NA
OR2K2	HGNC:8264	MGI:3030101	-	-	no	no	no	no	NA
OR2T1	HGNC:8277	MGI:109304	-	-	no	no	no	no	NA
OR2T35	HGNC:31257	MGI:3030555	-	-	no	no	no	no	NA
OR2T6	HGNC:15018	MGI:3030554	-	-	no	no	no	no	NA
OR2V1	HGNC:8280	MGI:1333785	-	-	no	no	no	no	NA
OR2V2	HGNC:15341	MGI:3031230	-	-	no	no	no	no	NA
OR4A15	HGNC:15152	MGI:3031068	-	-	no	no	no	no	NA
OR4A47	HGNC:31266	MGI:3031090	-	-	no	no	no	no	NA
OR4C3	HGNC:14697	MGI:3031098	-	-	no	no	no	no	NA
OR4C45	HGNC:31270	MGI:3031097	-	-	no	no	no	no	NA
OR4C5	HGNC:14702	MGI:3031094	-	-	no	no	no	no	NA
OR4D1	HGNC:8293	MGI:3030298	-	-	no	no	no	no	NA
OR4D11	HGNC:15174	MGI:3031257	-	-	no	no	no	no	NA
OR4D5	HGNC:14852	MGI:3030818	-	-	no	no	no	no	NA
OR4D6	HGNC:15175	MGI:3031262	-	-	no	no	no	no	NA
OR4E2	HGNC:8297	MGI:3031343	-	-	no	no	no	no	NA
OR4F15	HGNC:15078	MGI:3031143	-	-	no	no	no	no	NA
OR4F6	HGNC:15372	MGI:3031144	-	-	no	no	no	no	NA
OR4K1	HGNC:14726	MGI:3030562	-	-	no	no	no	no	NA
OR4K2	HGNC:14728	MGI:3030564	-	-	no	no	no	no	NA
OR4K5	HGNC:14745	MGI:3030563	-	-	no	no	no	no	NA
OR4M1	HGNC:14735	MGI:3030568	-	-	no	no	no	no	NA
OR4N5	HGNC:15358	MGI:3030556	-	-	no	no	no	no	NA
OR4Q3	HGNC:15426	MGI:3030569	-	-	no	no	no	no	NA
OR4S2	HGNC:15183	MGI:3031027	-	-	no	no	no	no	NA
OR51A7	HGNC:15188	MGI:3030410	-	-	no	no	no	no	NA
OR51B2	HGNC:14703	MGI:1341900	-	-	no	no	no	no	NA
OR51B4	HGNC:14708	MGI:1341906	-	-	no	no	no	no	NA
OR51D1	HGNC:15193	MGI:3030391	-	-	no	no	no	no	NA
OR51E1	HGNC:15194	MGI:3030392	-	-	no	no	no	no	NA
OR51E2	HGNC:15195	MGI:2157548	-	-	no	no	no	no	NA
OR51F2	HGNC:15197	MGI:3030402	-	-	no	no	no	no	NA
OR51G1	HGNC:14738	MGI:3030412	-	-	no	no	no	no	NA
OR51G2	HGNC:15198	MGI:3030411	-	-	no	no	no	no	NA
OR51I1	HGNC:15200	MGI:3030474	-	-	no	no	no	no	NA
OR51I2	HGNC:15201	MGI:3030475	-	-	no	no	no	no	NA
OR51M1	HGNC:14847	MGI:3030465	-	-	no	no	no	no	NA
OR51S1	HGNC:15204	MGI:3030405	-	-	no	no	no	no	NA
OR51T1	HGNC:15205	MGI:3030408	-	-	no	no	no	no	NA
OR52B2	HGNC:15207	MGI:3030525	-	-	no	no	no	no	NA
OR52B4	HGNC:15209	MGI:3030381	-	-	no	no	no	no	NA
OR52D1	HGNC:15212	MGI:3030480	-	-	no	no	no	no	NA
OR52E2	HGNC:14769	MGI:3030423	-	-	no	no	no	no	NA
OR52E4	HGNC:15213	MGI:3030511	-	-	no	no	no	no	NA
OR52E5	HGNC:15214	MGI:3030512	-	-	no	no	no	no	NA
OR52H1	HGNC:15218	MGI:3030482	-	-	yes	no	no	no	NA
OR52J3	HGNC:14799	MGI:3030426	-	-	no	no	no	no	NA
OR52K2	HGNC:15223	MGI:3030386	-	-	no	no	no	no	NA
OR52L1	HGNC:14785	MGI:3030519	-	-	no	no	no	no	NA
OR52M1	HGNC:15225	MGI:3030388	-	-	no	no	no	no	NA
OR52N5	HGNC:15231	MGI:3030503	-	-	no	no	no	no	NA
OR52W1	HGNC:15239	MGI:3030526	-	-	no	no	no	no	NA
OR56A4	HGNC:14791	MGI:3030518	-	-	no	no	no	no	NA
OR56A5	HGNC:14792	MGI:3030517	-	-	no	no	no	no	NA
OR56B2P	HGNC:15246	MGI:3030495	-	-	no	no	no	no	NA
OR5A1	HGNC:8319	MGI:2153205	-	-	no	no	no	no	NA
OR5AP2	HGNC:15258	MGI:3030854	-	-	no	no	no	no	NA
OR5AR1	HGNC:15260	MGI:3030853	-	-	no	no	no	no	NA
OR5AS1	HGNC:15261	MGI:3030945	-	-	no	no	no	no	NA
OR5AU1	HGNC:15362	MGI:3030055	-	-	no	no	no	no	NA
OR5B2	HGNC:8323	MGI:3031285	-	-	no	no	no	no	NA
OR5B21	HGNC:19616	MGI:3031278	-	-	no	no	no	no	NA
OR5C1	HGNC:8331	MGI:3030202	-	-	no	no	no	no	NA
OR5D16	HGNC:15283	MGI:3030989	-	-	no	no	no	no	NA
OR5D18	HGNC:15285	MGI:2151908	-	-	no	no	no	no	NA
OR5I1	HGNC:8347	MGI:1313139	-	-	no	no	no	no	NA
OR5J2	HGNC:19612	MGI:3030886	-	-	no	no	no	no	NA
OR5M8	HGNC:14846	MGI:3030865	-	-	no	no	no	no	NA
OR5T2	HGNC:15296	MGI:3030920	-	-	no	no	no	no	NA
OR6A2	HGNC:15301	MGI:97432	-	-	no	no	no	no	NA
OR6B1	HGNC:8354	MGI:3030283	-	-	no	no	no	no	NA
OR6C2	HGNC:15436	MGI:3030625	-	-	no	no	no	no	NA
OR6C3	HGNC:15437	MGI:3030622	-	-	no	no	no	no	NA
OR6C65	HGNC:31295	MGI:3030642	-	-	no	no	no	no	NA
OR6C68	HGNC:31297	MGI:3030614	-	-	no	no	no	no	NA
OR6C74	HGNC:31303	MGI:3030655	-	-	no	no	no	no	NA
OR6C75	HGNC:31304	MGI:3030624	-	-	no	no	no	no	NA
OR6F1	HGNC:15027	MGI:3030142	-	-	no	no	no	no	NA
OR6K2	HGNC:15029	MGI:3030254	-	-	no	no	no	no	NA
OR6K6	HGNC:15033	MGI:3030065	-	-	no	no	no	no	NA
OR6N1	HGNC:15034	MGI:3030263	-	-	no	no	no	no	NA
OR6N2	HGNC:15035	MGI:3030264	-	-	no	no	no	no	NA
OR6P1	HGNC:15036	MGI:3030248	-	-	no	no	no	no	NA
OR6S1	HGNC:15363	MGI:3030584	-	-	no	no	no	no	NA
OR6X1	HGNC:14737	MGI:3030820	-	-	no	no	no	no	NA
OR6Y1	HGNC:14823	MGI:3030054	-	-	no	no	no	no	NA
OR7C2	HGNC:8374	MGI:3031190	-	-	no	no	no	no	NA
OR7G1	HGNC:8465	MGI:3030688	-	-	no	no	no	no	NA
OR7G2	HGNC:8466	MGI:3030679	-	-	no	no	no	no	NA
OR8B4	HGNC:8473	MGI:3030712	-	-	no	no	no	no	NA
OR8B8	HGNC:8477	MGI:2177528	-	-	no	no	no	no	NA
OR8D4	HGNC:14840	MGI:3030819	-	-	no	no	no	no	NA
OR8I2	HGNC:15310	MGI:3030938	-	-	no	no	no	no	NA
OR8K1	HGNC:14831	MGI:3030880	-	-	no	no	no	no	NA
OR9A2	HGNC:15093	MGI:3030293	-	-	no	no	no	no	NA
OR9A4	HGNC:15095	MGI:3030294	-	-	no	no	no	no	NA
OR9G1	HGNC:15319	MGI:3030850	-	-	no	no	no	no	NA
OR9G4	HGNC:15322	MGI:3030840	-	-	yes	no	no	no	NA
OR9Q1	HGNC:14724	MGI:3031334	-	-	no	no	no	no	NA
OR9Q2	HGNC:15328	MGI:3031331	-	-	no	no	no	no	NA
ORAI1	HGNC:25896	MGI:1925542	OMIM:612782|OMIM:615883|ORPHA:3204|ORPHA:2593|ORPHA:317428	Immunodeficiency 9|Myopathy, Tubular Aggregate, 2|Stormorken-Sjaastad-Langslet Syndrome|Tubular Aggregate Myopathy|Combined Immunodeficiency Due To Orai1 Deficiency	yes	yes	yes	no	NA
ORAI2	HGNC:21667	MGI:2443195	-	-	no	no	no	no	NA
ORAI3	HGNC:28185	MGI:3039586	-	-	yes	no	no	no	NA
ORC1	HGNC:8487	MGI:1328337	OMIM:224690|ORPHA:2554	Meier-Gorlin Syndrome 1|Ear-Patella-Short Stature Syndrome	yes	yes	yes	yes	26.05
ORC2	HGNC:8488	MGI:1328306	-	-	yes	no	no	no	NA
ORC3	HGNC:8489	MGI:1354944	-	-	yes	no	no	no	NA
ORC4	HGNC:8490	MGI:1347043	OMIM:613800|ORPHA:2554	Meier-Gorlin Syndrome 2|Ear-Patella-Short Stature Syndrome	yes	yes	yes	no	NA
ORC5	HGNC:8491	MGI:1347044	-	-	yes	no	no	no	NA
ORC6	HGNC:17151	MGI:1929285	OMIM:613803|ORPHA:2554	Meier-Gorlin Syndrome 3|Ear-Patella-Short Stature Syndrome	yes	yes	yes	no	NA
ORMDL1	HGNC:16036	MGI:2181669	-	-	yes	no	no	no	NA
ORMDL2	HGNC:16037	MGI:1914094	-	-	no	no	no	no	NA
ORMDL3	HGNC:16038	MGI:1913862	-	-	no	no	no	no	NA
OS9	HGNC:16994	MGI:1924301	-	-	yes	no	no	no	NA
OSBP	HGNC:8503	MGI:97447	-	-	yes	no	no	no	NA
OSBP2	HGNC:8504	MGI:1921559	-	-	no	no	no	no	NA
OSBPL10	HGNC:16395	MGI:1921736	-	-	yes	no	no	no	NA
OSBPL11	HGNC:16397	MGI:2146553	-	-	yes	no	no	no	NA
OSBPL1A	HGNC:16398	MGI:1927551	-	-	yes	no	no	no	NA
OSBPL2	HGNC:15761	MGI:2442832	OMIM:616340|ORPHA:90635	Deafness, Autosomal Dominant 67|Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	no	no	no	no	NA
OSBPL3	HGNC:16370	MGI:1918970	-	-	yes	no	no	no	NA
OSBPL5	HGNC:16392	MGI:1930265	-	-	yes	no	no	no	NA
OSBPL6	HGNC:16388	MGI:2139014	-	-	yes	no	no	no	NA
OSBPL7	HGNC:16387	MGI:1918490	-	-	no	no	no	no	NA
OSBPL8	HGNC:16396	MGI:2443807	-	-	yes	no	no	no	NA
OSBPL9	HGNC:16386	MGI:1923784	-	-	no	no	no	no	NA
OSCAR	HGNC:29960	MGI:2179720	-	-	yes	no	no	no	NA
OSCP1	HGNC:29971	MGI:1916308	-	-	yes	no	no	no	NA
OSER1	HGNC:16105	MGI:1913930	-	-	yes	no	no	no	NA
OSGEP	HGNC:18028	MGI:1913496	OMIM:617729|ORPHA:2065	Galloway-Mowat Syndrome 3|Galloway-Mowat Syndrome	yes	yes	yes	no	NA
OSGEPL1	HGNC:23075	MGI:1919335	-	-	no	no	no	no	NA
OSGIN1	HGNC:30093	MGI:1919089	-	-	no	no	no	no	NA
OSGIN2	HGNC:1355	MGI:2384798	-	-	no	no	no	no	NA
OSM	HGNC:8506	MGI:104749	-	-	yes	no	no	no	NA
OSMR	HGNC:8507	MGI:1330819	OMIM:105250|ORPHA:353220	Amyloidosis, Primary Localized Cutaneous, 1|Familial Primary Localized Cutaneous Amyloidosis	no	no	no	no	NA
OSR1	HGNC:8111	MGI:1344424	-	-	no	no	no	no	NA
OSR2	HGNC:15830	MGI:1930813	-	-	no	no	no	no	NA
OST4	HGNC:32483	MGI:1914945	-	-	no	no	no	no	NA
OSTC	HGNC:24448	MGI:1913607	-	-	no	no	no	no	NA
OSTF1	HGNC:8510	MGI:700012	-	-	yes	no	no	no	NA
OSTM1	HGNC:21652	MGI:2655574	OMIM:259720|ORPHA:85179	Osteopetrosis, Autosomal Recessive 5|Infantile Osteopetrosis With Neuroaxonal Dysplasia	no	no	no	no	NA
OSTN	HGNC:29961	MGI:2677164	-	-	yes	no	no	no	NA
OTC	HGNC:8512	MGI:97448	OMIM:311250|ORPHA:664	Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To|Ornithine Transcarbamylase Deficiency	yes	yes	yes	yes	30.845
OTOA	HGNC:16378	MGI:2149209	OMIM:607039|ORPHA:90636	Deafness, Autosomal Recessive 22|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	yes	yes	yes	yes	33.215
OTOF	HGNC:8515	MGI:1891247	OMIM:601071|ORPHA:90636	Deafness, Autosomal Recessive 9|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	yes	no	yes	no	NA
OTOG	HGNC:8516	MGI:1202064	OMIM:614945|ORPHA:90636	Deafness, Autosomal Recessive 18B|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	yes	yes	yes	yes	33.13
OTOGL	HGNC:26901	MGI:3647600	OMIM:614944|ORPHA:90636	Deafness, Autosomal Recessive 84B|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	yes	yes	yes	yes	33.13
OTOL1	HGNC:34071	MGI:2685260	-	-	yes	no	no	no	NA
OTOP1	HGNC:19656	MGI:2388363	-	-	yes	no	no	no	NA
OTOP2	HGNC:19657	MGI:2388365	-	-	yes	no	no	no	NA
OTOP3	HGNC:19658	MGI:1916852	-	-	yes	no	no	no	NA
OTOR	HGNC:8517	MGI:1888678	-	-	yes	no	no	no	NA
OTOS	HGNC:22644	MGI:2672814	-	-	no	no	no	no	NA
OTP	HGNC:8518	MGI:99835	-	-	yes	no	no	no	NA
OTUB1	HGNC:23077	MGI:2147616	-	-	yes	no	no	no	NA
OTUB2	HGNC:20351	MGI:1915399	-	-	yes	no	no	no	NA
OTUD1	HGNC:27346	MGI:1918448	-	-	yes	no	no	no	NA
OTUD3	HGNC:29038	MGI:1920412	-	-	yes	no	no	no	NA
OTUD4	HGNC:24949	MGI:1098801	-	-	yes	no	no	no	NA
OTUD5	HGNC:25402	MGI:1859615	OMIM:301056|ORPHA:528084	Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked|Non-Specific Syndromic Intellectual Disability	no	no	no	no	NA
OTUD6A	HGNC:32312	MGI:3644685	-	-	yes	no	no	no	NA
OTUD6B	HGNC:24281	MGI:1919451	OMIM:617452|ORPHA:505237	Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies|Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	yes	yes	yes	no	NA
OTUD7A	HGNC:20718	MGI:2158505	-	-	yes	no	no	no	NA
OTUD7B	HGNC:16683	MGI:2654703	-	-	yes	no	no	no	NA
OTULIN	HGNC:25118	MGI:3577015	OMIM:617099|OMIM:619986|ORPHA:500062	Autoinflammation, Panniculitis, And Dermatosis Syndrome|Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection|Infantile-Onset Periodic Fever-Panniculitis-Dermatosis Syndrome	yes	yes	yes	yes	29.87
OTULINL	HGNC:25629	MGI:2687281	-	-	no	no	no	no	NA
OTX1	HGNC:8521	MGI:97450	-	-	no	no	no	no	NA
OTX2	HGNC:8522	MGI:97451	OMIM:610125|OMIM:613986|ORPHA:178364|ORPHA:990|ORPHA:3157|ORPHA:35612|ORPHA:95494|ORPHA:98938|ORPHA:99001	Microphthalmia, Syndromic 5|Pituitary Hormone Deficiency, Combined, 6|Syndromic Microphthalmia Type 5|Agnathia-Holoprosencephaly-Situs Inversus Syndrome|Septo-Optic Dysplasia Spectrum|Nanophthalmos|Combined Pituitary Hormone Deficiencies, Genetic Forms|Colobomatous Microphthalmia|Butterfly-Shaped Pigment Dystrophy	no	no	no	no	NA
OVCA2	HGNC:24203	MGI:2179725	-	-	no	no	no	no	NA
OVCH2	HGNC:29970	MGI:3045251	-	-	yes	no	no	no	NA
OVGP1	HGNC:8524	MGI:106661	-	-	yes	no	no	no	NA
OVOL1	HGNC:8525	MGI:1330290	-	-	yes	no	no	no	NA
OVOL2	HGNC:15804	MGI:1338039	OMIM:122000|ORPHA:98973|ORPHA:98975	Corneal Dystrophy, Posterior Polymorphous, 1|Posterior Polymorphous Corneal Dystrophy|Congenital Hereditary Endothelial Dystrophy Type I	no	no	no	no	NA
OVOL3	HGNC:14186	MGI:2388075	-	-	no	no	no	no	NA
OXA1L	HGNC:8526	MGI:1916339	-	-	yes	no	no	no	NA
OXCT1	HGNC:8527	MGI:1914291	OMIM:245050|ORPHA:832	Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency|Succinyl-Coa:3-Oxoacid Coa Transferase Deficiency	no	no	no	no	NA
OXGR1	HGNC:4531	MGI:2685145	OMIM:620374	Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis	yes	no	yes	no	NA
OXLD1	HGNC:27901	MGI:1913681	-	-	no	no	no	no	NA
OXNAD1	HGNC:25128	MGI:1916953	-	-	no	no	no	no	NA
OXR1	HGNC:15822	MGI:2179326	OMIM:213000	Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	yes	yes	yes	no	NA
OXSM	HGNC:26063	MGI:1918397	-	-	yes	no	no	no	NA
OXSR1	HGNC:8508	MGI:1917378	-	-	no	no	no	no	NA
OXT	HGNC:8528	MGI:97453	-	-	no	no	no	no	NA
OXTR	HGNC:8529	MGI:109147	-	-	yes	no	no	no	NA
P2RX1	HGNC:8533	MGI:1098235	-	-	no	no	no	no	NA
P2RX2	HGNC:15459	MGI:2665170	OMIM:608224|ORPHA:90635	Deafness, Autosomal Dominant 41|Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	yes	yes	yes	no	NA
P2RX3	HGNC:8534	MGI:1097160	-	-	no	no	no	no	NA
P2RX4	HGNC:8535	MGI:1338859	-	-	yes	no	no	no	NA
P2RX5	HGNC:8536	MGI:2137026	-	-	yes	no	no	no	NA
P2RX6	HGNC:8538	MGI:1337113	-	-	yes	no	no	no	NA
P2RX7	HGNC:8537	MGI:1339957	ORPHA:67038	B-Cell Chronic Lymphocytic Leukemia	yes	yes	no	no	NA
P2RY1	HGNC:8539	MGI:105049	-	-	no	no	no	no	NA
P2RY10	HGNC:19906	MGI:1926076	-	-	no	no	no	no	NA
P2RY12	HGNC:18124	MGI:1918089	OMIM:609821|ORPHA:36355	Bleeding Disorder, Platelet-Type, 8|Bleeding Disorder Due To P2Y12 Defect	no	no	no	no	NA
P2RY13	HGNC:4537	MGI:1921441	-	-	yes	no	no	no	NA
P2RY14	HGNC:16442	MGI:2155705	-	-	yes	no	no	no	NA
P2RY2	HGNC:8541	MGI:105107	-	-	no	no	no	no	NA
P2RY4	HGNC:8542	MGI:1926594	-	-	no	no	no	no	NA
P2RY6	HGNC:8543	MGI:2673874	-	-	no	no	no	no	NA
P3H1	HGNC:19316	MGI:1888921	OMIM:610915|ORPHA:216804|ORPHA:216812	Osteogenesis Imperfecta, Type Viii|Osteogenesis Imperfecta Type 2|Osteogenesis Imperfecta Type 3	yes	yes	yes	yes	40.035
P3H2	HGNC:19317	MGI:2146663	OMIM:614292|ORPHA:98619	Myopia, High, With Cataract And Vitreoretinal Degeneration|Rare Isolated Myopia	yes	yes	yes	no	NA
P3H3	HGNC:19318	MGI:1315208	-	-	yes	no	no	no	NA
P3H4	HGNC:16946	MGI:1913430	-	-	no	no	no	no	NA
P3R3URF	HGNC:53451	MGI:1914573	-	-	no	no	no	no	NA
P4HA1	HGNC:8546	MGI:97463	-	-	no	no	no	no	NA
P4HA2	HGNC:8547	MGI:894286	OMIM:617238|ORPHA:397	Myopia 25, Autosomal Dominant|Giant Cell Arteritis	no	no	no	no	NA
P4HA3	HGNC:30135	MGI:2444049	-	-	yes	no	no	no	NA
P4HB	HGNC:8548	MGI:97464	OMIM:112240|ORPHA:2050|ORPHA:216796	Cole-Carpenter Syndrome 1|Cole-Carpenter Syndrome|Osteogenesis Imperfecta Type 1	yes	yes	yes	yes	31.8
P4HTM	HGNC:28858	MGI:1921693	OMIM:618493	Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	no	no	no	no	NA
PA2G4	HGNC:8550	MGI:894684	-	-	yes	no	no	no	NA
PABIR1	HGNC:23490	MGI:1915284	-	-	no	no	no	no	NA
PABIR2	HGNC:30490	MGI:1926005	-	-	yes	no	no	no	NA
PABIR3	HGNC:25202	MGI:1921116	-	-	yes	no	no	no	NA
PABPC1L	HGNC:15797	MGI:1922908	-	-	yes	no	no	no	NA
PABPC4	HGNC:8557	MGI:2385206	-	-	yes	no	no	no	NA
PABPC4L	HGNC:31955	MGI:3643087	-	-	yes	no	no	no	NA
PABPC5	HGNC:13629	MGI:2136401	-	-	yes	no	no	no	NA
PABPN1	HGNC:8565	MGI:1859158	OMIM:164300|ORPHA:270	Oculopharyngeal Muscular Dystrophy 1|Oculopharyngeal Muscular Dystrophy	no	no	no	no	NA
PABPN1L	HGNC:37237	MGI:2685954	-	-	yes	no	no	no	NA
PACC1	HGNC:25593	MGI:1914200	-	-	no	no	no	no	NA
PACRG	HGNC:19152	MGI:1916560	-	-	yes	no	no	no	NA
PACS1	HGNC:30032	MGI:1277113	OMIM:615009|ORPHA:329224	Schuurs-Hoeijmakers Syndrome|Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	yes	yes	yes	yes	24.59
PACS2	HGNC:23794	MGI:1924399	OMIM:618067|ORPHA:442835	Developmental And Epileptic Encephalopathy 66|Non-Specific Early-Onset Epileptic Encephalopathy	yes	yes	yes	yes	35.33
PACSIN1	HGNC:8570	MGI:1345181	-	-	yes	no	no	no	NA
PACSIN2	HGNC:8571	MGI:1345153	-	-	yes	no	no	no	NA
PACSIN3	HGNC:8572	MGI:1891410	-	-	yes	no	no	no	NA
PADI1	HGNC:18367	MGI:1338893	-	-	yes	no	no	no	NA
PADI2	HGNC:18341	MGI:1338892	-	-	yes	no	no	no	NA
PADI3	HGNC:18337	MGI:1338891	OMIM:191480|ORPHA:1410	Uncombable Hair Syndrome 1|Uncombable Hair Syndrome	yes	yes	yes	no	NA
PADI4	HGNC:18368	MGI:1338898	-	-	yes	no	no	no	NA
PADI6	HGNC:20449	MGI:2655198	OMIM:617234	Oocyte/Zygote/Embryo Maturation Arrest 16	yes	yes	yes	yes	81.72
PAF1	HGNC:25459	MGI:1923988	-	-	yes	no	no	no	NA
PAFAH1B1	HGNC:8574	MGI:109520	OMIM:607432|ORPHA:217385|ORPHA:531|ORPHA:95232|ORPHA:99796	Lissencephaly 1|17P13.3 Microduplication Syndrome|Miller-Dieker Syndrome|Lissencephaly Due To Lis1 Mutation|Subcortical Band Heterotopia	no	no	no	no	NA
PAFAH1B2	HGNC:8575	MGI:108415	-	-	no	no	no	no	NA
PAFAH1B3	HGNC:8576	MGI:108414	-	-	no	no	no	no	NA
PAFAH2	HGNC:8579	MGI:2140321	-	-	no	no	no	no	NA
PAG1	HGNC:30043	MGI:2443160	-	-	no	no	no	no	NA
PAGR1	HGNC:28707	MGI:1914528	-	-	no	no	no	no	NA
PAH	HGNC:8582	MGI:97473	OMIM:261600|ORPHA:2209|ORPHA:293284|ORPHA:79254|ORPHA:79253|ORPHA:79651	Phenylketonuria|Maternal Phenylketonuria|Tetrahydrobiopterin-Responsive Hyperphenylalaninemia/Phenylketonuria|Classic Phenylketonuria|Mild Phenylketonuria|Mild Hyperphenylalaninemia	yes	yes	yes	yes	47.785
PAICS	HGNC:8587	MGI:1914304	OMIM:619859	Phosphoribosylaminoimidazole Carboxylase Deficiency	yes	yes	yes	yes	22.385
PAIP1	HGNC:16945	MGI:2384993	-	-	yes	no	no	no	NA
PAIP2	HGNC:17970	MGI:1915119	-	-	no	no	no	no	NA
PAIP2B	HGNC:29200	MGI:2386865	-	-	no	no	no	no	NA
PAK1	HGNC:8590	MGI:1339975	OMIM:618158	Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	yes	yes	yes	no	NA
PAK1IP1	HGNC:20882	MGI:1915333	-	-	yes	no	no	no	NA
PAK2	HGNC:8591	MGI:1339984	OMIM:618458|ORPHA:1571	Knobloch Syndrome 2|Knobloch Syndrome	yes	yes	yes	no	NA
PAK3	HGNC:8592	MGI:1339656	OMIM:300558|ORPHA:777	Intellectual Developmental Disorder, X-Linked 30|X-Linked Non-Syndromic Intellectual Disability	no	no	no	no	NA
PAK4	HGNC:16059	MGI:1917834	-	-	no	no	no	no	NA
PAK5	HGNC:15916	MGI:1920334	-	-	yes	no	no	no	NA
PAK6	HGNC:16061	MGI:2679420	-	-	yes	no	no	no	NA
PALB2	HGNC:26144	MGI:3040695	OMIM:610832|OMIM:620442|OMIM:613348|ORPHA:84|ORPHA:145|ORPHA:227535|ORPHA:1333|ORPHA:178	Fanconi Anemia, Complementation Group N|Breast-Ovarian Cancer, Familial, Susceptibility To, 5|Pancreatic Cancer, Susceptibility To, 3|Fanconi Anemia|Hereditary Breast And/Or Ovarian Cancer Syndrome|Hereditary Breast Cancer|Familial Pancreatic Carcinoma|Chordoma	yes	yes	yes	yes	24.18
PALD1	HGNC:23530	MGI:1351623	-	-	yes	no	no	no	NA
PALLD	HGNC:17068	MGI:1919583	OMIM:606856|ORPHA:1333	Pancreatic Cancer, Susceptibility To, 1|Familial Pancreatic Carcinoma	no	no	no	no	NA
PALM	HGNC:8594	MGI:1261814	-	-	yes	no	no	no	NA
PALM2AKAP2	HGNC:33529	MGI:5141924	-	-	yes	no	no	no	NA
PALM3	HGNC:33274	MGI:1921587	-	-	yes	no	no	no	NA
PALMD	HGNC:15846	MGI:2148896	-	-	yes	no	no	no	NA
PALS1	HGNC:18669	MGI:1927339	ORPHA:528084	Non-Specific Syndromic Intellectual Disability	no	no	no	no	NA
PALS2	HGNC:18167	MGI:1927340	-	-	yes	no	no	no	NA
PAM	HGNC:8596	MGI:97475	-	-	yes	no	no	no	NA
PAMR1	HGNC:24554	MGI:2445082	-	-	no	no	no	no	NA
PAN2	HGNC:20074	MGI:1918984	-	-	yes	no	no	no	NA
PAN3	HGNC:29991	MGI:1919837	-	-	yes	no	no	no	NA
PANK1	HGNC:8598	MGI:1922985	-	-	yes	no	no	no	NA
PANK2	HGNC:15894	MGI:1921700	OMIM:607236|OMIM:234200|ORPHA:216866|ORPHA:216873	Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration|Neurodegeneration With Brain Iron Accumulation 1|Classic Pantothenate Kinase-Associated Neurodegeneration|Atypical Pantothenate Kinase-Associated Neurodegeneration	yes	yes	yes	yes	43.36
PANK3	HGNC:19365	MGI:2387464	-	-	yes	no	no	no	NA
PANK4	HGNC:19366	MGI:2387466	OMIM:619593|ORPHA:98993	Cataract 49|Early-Onset Posterior Polar Cataract	yes	yes	yes	no	NA
PANX1	HGNC:8599	MGI:1860055	OMIM:618550|ORPHA:488191	Oocyte/Zygote/Embryo Maturation Arrest 7|Female Infertility Due To Oocyte Meiotic Arrest	yes	yes	yes	no	NA
PANX2	HGNC:8600	MGI:1890615	-	-	yes	no	no	no	NA
PANX3	HGNC:20573	MGI:1918881	-	-	yes	no	no	no	NA
PAOX	HGNC:20837	MGI:1916983	-	-	yes	no	no	no	NA
PAPLN	HGNC:19262	MGI:2386139	-	-	yes	no	no	no	NA
PAPOLA	HGNC:14981	MGI:109301	-	-	yes	no	no	no	NA
PAPOLB	HGNC:15970	MGI:1932115	-	-	yes	no	no	no	NA
PAPOLG	HGNC:14982	MGI:2442119	-	-	yes	no	no	no	NA
PAPPA	HGNC:8602	MGI:97479	-	-	yes	no	no	no	NA
PAPPA2	HGNC:14615	MGI:3051647	OMIM:619489	Short Stature, Dauber-Argente Type	no	no	no	no	NA
PAPSS1	HGNC:8603	MGI:1330587	-	-	yes	no	no	no	NA
PAPSS2	HGNC:8604	MGI:1330223	OMIM:612847|ORPHA:448242|ORPHA:93282	Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes|Autosomal Recessive Brachyolmia|Spondyloepimetaphyseal Dysplasia, Papss2 Type	yes	yes	yes	yes	17.05
PAQR3	HGNC:30130	MGI:2679683	-	-	no	no	no	no	NA
PAQR4	HGNC:26386	MGI:1923748	-	-	no	no	no	no	NA
PAQR5	HGNC:29645	MGI:1921340	-	-	no	no	no	no	NA
PAQR6	HGNC:30132	MGI:1916207	-	-	yes	no	no	no	NA
PAQR7	HGNC:23146	MGI:1919154	-	-	yes	no	no	no	NA
PAQR8	HGNC:15708	MGI:1921479	-	-	yes	no	no	no	NA
PAQR9	HGNC:30131	MGI:1922802	-	-	no	no	no	no	NA
PARD3	HGNC:16051	MGI:2135608	-	-	yes	no	no	no	NA
PARD3B	HGNC:14446	MGI:1919301	-	-	yes	no	no	no	NA
PARD6A	HGNC:15943	MGI:1927223	-	-	yes	no	no	no	NA
PARD6B	HGNC:16245	MGI:2135605	-	-	no	no	no	no	NA
PARD6G	HGNC:16076	MGI:2135606	-	-	no	no	no	no	NA
PARG	HGNC:8605	MGI:1347094	-	-	yes	no	no	no	NA
PARK7	HGNC:16369	MGI:2135637	OMIM:606324|ORPHA:2828|ORPHA:90020	Parkinson Disease 7, Autosomal Recessive Early-Onset|Young-Onset Parkinson Disease|Parkinson-Dementia Complex Of Guam	yes	yes	yes	no	NA
PARL	HGNC:18253	MGI:1277152	-	-	yes	no	no	no	NA
PARM1	HGNC:24536	MGI:2443349	-	-	no	no	no	no	NA
PARN	HGNC:8609	MGI:1921358	OMIM:616353|OMIM:616371|ORPHA:1775|ORPHA:3322|ORPHA:2032	Dyskeratosis Congenita, Autosomal Recessive 6|Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4|Dyskeratosis Congenita|Hoyeraal-Hreidarsson Syndrome|Idiopathic Pulmonary Fibrosis	yes	no	yes	no	NA
PARP1	HGNC:270	MGI:1340806	-	-	yes	no	no	no	NA
PARP10	HGNC:25895	MGI:3712326	-	-	no	no	no	no	NA
PARP11	HGNC:1186	MGI:2141505	-	-	yes	no	no	no	NA
PARP12	HGNC:21919	MGI:2143990	-	-	yes	no	no	no	NA
PARP14	HGNC:29232	MGI:1919489	-	-	no	no	no	no	NA
PARP16	HGNC:26040	MGI:2446133	-	-	yes	no	no	no	NA
PARP2	HGNC:272	MGI:1341112	-	-	no	no	no	no	NA
PARP3	HGNC:273	MGI:1891258	-	-	no	no	no	no	NA
PARP4	HGNC:271	MGI:2685589	-	-	yes	no	no	no	NA
PARP6	HGNC:26921	MGI:1914537	-	-	no	no	no	no	NA
PARP8	HGNC:26124	MGI:1098713	-	-	yes	no	no	no	NA
PARP9	HGNC:24118	MGI:1933117	-	-	no	no	no	no	NA
PARPBP	HGNC:26074	MGI:1922567	-	-	yes	no	no	no	NA
PARS2	HGNC:30563	MGI:2386296	OMIM:618437|ORPHA:442835	Developmental And Epileptic Encephalopathy 75|Non-Specific Early-Onset Epileptic Encephalopathy	no	no	no	no	NA
PARVA	HGNC:14652	MGI:1931144	-	-	yes	no	no	no	NA
PARVB	HGNC:14653	MGI:2153063	-	-	yes	no	no	no	NA
PARVG	HGNC:14654	MGI:2158329	-	-	no	no	no	no	NA
PASK	HGNC:17270	MGI:2155936	-	-	no	no	no	no	NA
PATE1	HGNC:24664	MGI:4936886	-	-	no	no	no	no	NA
PATE2	HGNC:32249	MGI:2685692	-	-	yes	no	no	no	NA
PATE3	HGNC:35426	MGI:4936999	-	-	no	no	no	no	NA
PATE4	HGNC:35427	MGI:1930790	-	-	yes	no	no	no	NA
PATJ	HGNC:28881	MGI:1277960	-	-	yes	no	no	no	NA
PATL1	HGNC:26721	MGI:2147679	-	-	yes	no	no	no	NA
PATL2	HGNC:33630	MGI:1914828	OMIM:617743|ORPHA:488191	Oocyte/Zygote/Embryo Maturation Arrest 4|Female Infertility Due To Oocyte Meiotic Arrest	yes	yes	yes	no	NA
PATZ1	HGNC:13071	MGI:1891832	-	-	yes	no	no	no	NA
PAWR	HGNC:8614	MGI:2149961	-	-	yes	no	no	no	NA
PAX1	HGNC:8615	MGI:97485	OMIM:615560|ORPHA:2792	Otofaciocervical Syndrome 2, With T-Cell Deficiency|Otofaciocervical Syndrome	no	no	no	no	NA
PAX2	HGNC:8616	MGI:97486	OMIM:616002|OMIM:120330|ORPHA:1475|ORPHA:656|ORPHA:97362	Focal Segmental Glomerulosclerosis 7|Papillorenal Syndrome|Renal Coloboma Syndrome|Genetic Steroid-Resistant Nephrotic Syndrome|Renal Hypoplasia, Bilateral	no	no	no	no	NA
PAX3	HGNC:8617	MGI:97487	OMIM:122880|OMIM:268220|OMIM:193500|OMIM:148820|ORPHA:896|ORPHA:894|ORPHA:1529|ORPHA:99756	Craniofacial-Deafness-Hand Syndrome|Rhabdomyosarcoma 2|Waardenburg Syndrome, Type 1|Waardenburg Syndrome, Type 3|Waardenburg Syndrome Type 3|Waardenburg Syndrome Type 1|Alveolar Rhabdomyosarcoma	no	no	no	no	NA
PAX4	HGNC:8618	MGI:97488	OMIM:125853|OMIM:612225|OMIM:612227|ORPHA:552	Type 2 Diabetes Mellitus|Maturity-Onset Diabetes Of The Young, Type 9|Diabetes Mellitus, Ketosis-Prone|Mody	yes	yes	yes	yes	32.3
PAX5	HGNC:8619	MGI:97489	OMIM:615545|ORPHA:641372	Leukemia, Acute Lymphoblastic, Susceptibility To, 3|B-Lymphoblastic Leukemia/Lymphoma With T(7;9)(Q11.2;P13.2)	yes	yes	no	no	NA
PAX6	HGNC:8620	MGI:97490	OMIM:120430|OMIM:120200|OMIM:106210|OMIM:604229|OMIM:136520|OMIM:148190|OMIM:165550|ORPHA:893|ORPHA:1065|ORPHA:2253|ORPHA:2334|ORPHA:250923|ORPHA:708|ORPHA:35737|ORPHA:98942|ORPHA:98947|ORPHA:98945|ORPHA:98946|ORPHA:98943|ORPHA:98944	Coloboma Of Optic Nerve|Coloboma, Ocular, Autosomal Dominant|Aniridia 1|Anterior Segment Dysgenesis 5|Foveal Hypoplasia 1|Keratitis, Hereditary|Optic Nerve Hypoplasia, Bilateral|Wagr Syndrome|Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome|Foveal Hypoplasia-Presenile Cataract Syndrome|Autosomal Dominant Keratitis|Isolated Aniridia|Peters Anomaly|Morning Glory Disc Anomaly|Coloboma Of Choroid And Retina|Coloboma Of Optic Disc|Coloboma Of Macula|Coloboma Of Eyelid|Coloboma Of Eye Lens|Coloboma Of Iris	yes	yes	yes	yes	72.93
PAX7	HGNC:8621	MGI:97491	OMIM:618578|OMIM:268220|ORPHA:99756	Congenital Myopathy 19|Rhabdomyosarcoma 2|Alveolar Rhabdomyosarcoma	yes	yes	yes	no	NA
PAX8	HGNC:8622	MGI:97492	OMIM:218700|ORPHA:146|ORPHA:95713|ORPHA:95712|ORPHA:95720	Hypothyroidism, Congenital, Nongoitrous, 2|Differentiated Thyroid Carcinoma|Athyreosis|Thyroid Ectopia|Thyroid Hypoplasia	no	no	no	no	NA
PAX9	HGNC:8623	MGI:97493	OMIM:604625|ORPHA:2227|ORPHA:99798	Tooth Agenesis, Selective, 3|Non Rare In Europe: Hypodontia|Oligodontia	no	no	no	no	NA
PAXBP1	HGNC:13579	MGI:1914617	-	-	no	no	no	no	NA
PAXIP1	HGNC:8624	MGI:1890430	-	-	no	no	no	no	NA
PAXX	HGNC:27849	MGI:2442831	-	-	yes	no	no	no	NA
PBDC1	HGNC:28790	MGI:1914933	-	-	yes	no	no	no	NA
PBK	HGNC:18282	MGI:1289156	-	-	no	no	no	no	NA
PBRM1	HGNC:30064	MGI:1923998	OMIM:144700|ORPHA:404511	Renal Cell Carcinoma, Nonpapillary|Clear Cell Papillary Renal Cell Carcinoma	yes	yes	yes	no	NA
PBX1	HGNC:8632	MGI:97495	OMIM:617641|ORPHA:97362|ORPHA:585956	Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay|Renal Hypoplasia, Bilateral|B-Lymphoblastic Leukemia/Lymphoma With T(1;19)(Q23;P13.3)	no	no	no	no	NA
PBX2	HGNC:8633	MGI:1341793	-	-	no	no	no	no	NA
PBX3	HGNC:8634	MGI:97496	-	-	yes	no	no	no	NA
PBX4	HGNC:13403	MGI:1931321	-	-	no	no	no	no	NA
PBXIP1	HGNC:21199	MGI:2441670	-	-	no	no	no	no	NA
PC	HGNC:8636	MGI:97520	OMIM:266150|ORPHA:353320|ORPHA:353308|ORPHA:353314	Pyruvate Carboxylase Deficiency|Pyruvate Carboxylase Deficiency, Benign Type|Pyruvate Carboxylase Deficiency, Infantile Type|Pyruvate Carboxylase Deficiency, Severe Neonatal Type	yes	yes	yes	no	NA
PCARE	HGNC:34383	MGI:2385061	OMIM:613428|ORPHA:791	Retinitis Pigmentosa 54|Retinitis Pigmentosa	no	no	no	no	NA
PCBD1	HGNC:8646	MGI:94873	OMIM:264070|ORPHA:1578	Hyperphenylalaninemia, Bh4-Deficient, D|Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	no	no	no	no	NA
PCBD2	HGNC:24474	MGI:1919812	-	-	no	no	no	no	NA
PCBP1	HGNC:8647	MGI:1345635	-	-	no	no	no	no	NA
PCBP2	HGNC:8648	MGI:108202	-	-	no	no	no	no	NA
PCBP3	HGNC:8651	MGI:1890470	-	-	no	no	no	no	NA
PCBP4	HGNC:8652	MGI:1890471	-	-	no	no	no	no	NA
PCCA	HGNC:8653	MGI:97499	OMIM:606054|ORPHA:35	Propionic Acidemia	yes	yes	yes	yes	27
PCCB	HGNC:8654	MGI:1914154	OMIM:606054|ORPHA:35	Propionic Acidemia	yes	yes	yes	yes	27.375
PCDH1	HGNC:8655	MGI:104692	-	-	yes	no	no	no	NA
PCDH10	HGNC:13404	MGI:1338042	-	-	yes	no	no	no	NA
PCDH12	HGNC:8657	MGI:1855700	OMIM:251280|ORPHA:319192	Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1|Diencephalic-Mesencephalic Junction Dysplasia	yes	yes	yes	no	NA
PCDH15	HGNC:14674	MGI:1891428	OMIM:609533|OMIM:601067|OMIM:602083|ORPHA:231169|ORPHA:90636	Deafness, Autosomal Recessive 23|Usher Syndrome, Type Id|Usher Syndrome, Type If|Usher Syndrome Type 1|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	yes	yes	yes	no	NA
PCDH17	HGNC:14267	MGI:2684924	-	-	no	no	no	no	NA
PCDH18	HGNC:14268	MGI:1920423	-	-	yes	no	no	no	NA
PCDH19	HGNC:14270	MGI:2685563	OMIM:300088|ORPHA:33069|ORPHA:101039	Developmental And Epileptic Encephalopathy 9|Dravet Syndrome|Female Restricted Epilepsy With Intellectual Disability	no	no	no	no	NA
PCDH20	HGNC:14257	MGI:2443376	-	-	yes	no	no	no	NA
PCDH7	HGNC:8659	MGI:1860487	-	-	no	no	no	no	NA
PCDH8	HGNC:8660	MGI:1306800	-	-	yes	no	no	no	NA
PCDH9	HGNC:8661	MGI:1306801	-	-	yes	no	no	no	NA
PCDHA1	HGNC:8663	MGI:2150982	-	-	no	no	no	no	NA
PCDHA10	HGNC:8664	MGI:2447322	-	-	yes	no	no	no	NA
PCDHA11	HGNC:8665	MGI:1298372	-	-	no	no	no	no	NA
PCDHA13	HGNC:8667	MGI:1298370	-	-	yes	no	no	no	NA
PCDHA2	HGNC:8668	MGI:2681880	-	-	yes	no	no	no	NA
PCDHA3	HGNC:8669	MGI:2447313	-	-	no	no	no	no	NA
PCDHA4	HGNC:8670	MGI:1298406	-	-	no	no	no	no	NA
PCDHA5	HGNC:8671	MGI:1298371	-	-	no	no	no	no	NA
PCDHA6	HGNC:8672	MGI:1298367	-	-	no	no	no	no	NA
PCDHAC1	HGNC:8676	MGI:1891442	-	-	no	no	no	no	NA
PCDHAC2	HGNC:8677	MGI:1891443	-	-	no	no	no	no	NA
PCDHB1	HGNC:8680	MGI:2136730	-	-	no	no	no	no	NA
PCDHB14	HGNC:8685	MGI:2136758	-	-	no	no	no	no	NA
PCDHB15	HGNC:8686	MGI:2136760	-	-	yes	no	no	no	NA
PCDHB16	HGNC:14546	MGI:2136754	-	-	no	no	no	no	NA
PCDHB2	HGNC:8687	MGI:2136735	-	-	no	no	no	no	NA
PCDHB3	HGNC:8688	MGI:2136737	-	-	yes	no	no	no	NA
PCDHB6	HGNC:8691	MGI:2136748	-	-	yes	no	no	no	NA
PCDHB7	HGNC:8692	MGI:2136750	-	-	no	no	no	no	NA
PCDHGA1	HGNC:8696	MGI:1935212	-	-	yes	no	no	no	NA
PCDHGA10	HGNC:8697	MGI:1935227	-	-	no	no	no	no	NA
PCDHGA11	HGNC:8698	MGI:1935228	-	-	no	no	no	no	NA
PCDHGA12	HGNC:8699	MGI:1935229	-	-	no	no	no	no	NA
PCDHGA2	HGNC:8700	MGI:1935214	-	-	no	no	no	no	NA
PCDHGA3	HGNC:8701	MGI:1935215	-	-	no	no	no	no	NA
PCDHGA4	HGNC:8702	MGI:1935216	-	-	no	no	no	no	NA
PCDHGA5	HGNC:8703	MGI:1935217	-	-	no	no	no	no	NA
PCDHGA6	HGNC:8704	MGI:1935218	-	-	no	no	no	no	NA
PCDHGA7	HGNC:8705	MGI:1935219	-	-	yes	no	no	no	NA
PCDHGA8	HGNC:8706	MGI:1935221	-	-	no	no	no	no	NA
PCDHGA9	HGNC:8707	MGI:1935226	-	-	no	no	no	no	NA
PCDHGB1	HGNC:8708	MGI:1935169	-	-	yes	no	no	no	NA
PCDHGB2	HGNC:8709	MGI:1935170	-	-	yes	no	no	no	NA
PCDHGB4	HGNC:8711	MGI:1935173	-	-	no	no	no	no	NA
PCDHGB5	HGNC:8712	MGI:1935196	-	-	no	no	no	no	NA
PCDHGB6	HGNC:8713	MGI:1935197	-	-	no	no	no	no	NA
PCDHGB7	HGNC:8714	MGI:1935199	-	-	no	no	no	no	NA
PCDHGC3	HGNC:8716	MGI:1935201	-	-	yes	no	no	no	NA
PCDHGC4	HGNC:8717	MGI:1935203	-	-	no	no	no	no	NA
PCDHGC5	HGNC:8718	MGI:1935205	-	-	no	no	no	no	NA
PCED1A	HGNC:16212	MGI:2442177	-	-	yes	no	no	no	NA
PCED1B	HGNC:28255	MGI:2446270	-	-	no	no	no	no	NA
PCF11	HGNC:30097	MGI:1919579	-	-	no	no	no	no	NA
PCGF1	HGNC:17615	MGI:1917087	-	-	yes	no	no	no	NA
PCGF2	HGNC:12929	MGI:99161	OMIM:618371	Turnpenny-Fry Syndrome	yes	yes	yes	yes	23.065
PCGF3	HGNC:10066	MGI:1916837	-	-	yes	no	no	no	NA
PCGF5	HGNC:28264	MGI:1923505	-	-	no	no	no	no	NA
PCGF6	HGNC:21156	MGI:1918291	-	-	no	no	no	no	NA
PCID2	HGNC:25653	MGI:2443003	-	-	no	no	no	no	NA
PCIF1	HGNC:16200	MGI:2443858	-	-	yes	no	no	no	NA
PCK1	HGNC:8724	MGI:97501	OMIM:261680|ORPHA:2880	Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic|Phosphoenolpyruvate Carboxykinase Deficiency	no	no	no	no	NA
PCK2	HGNC:8725	MGI:1860456	OMIM:261650|ORPHA:2880	Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial|Phosphoenolpyruvate Carboxykinase Deficiency	yes	yes	yes	no	NA
PCLAF	HGNC:28961	MGI:1915276	-	-	yes	no	no	no	NA
PCLO	HGNC:13406	MGI:1349390	OMIM:608027|ORPHA:97249	Pontocerebellar Hypoplasia, Type 3|Pontocerebellar Hypoplasia Type 3	no	no	no	no	NA
PCM1	HGNC:8727	MGI:1277958	ORPHA:146	Differentiated Thyroid Carcinoma	yes	yes	no	no	NA
PCMT1	HGNC:8728	MGI:97502	-	-	no	no	no	no	NA
PCMTD1	HGNC:30483	MGI:2441773	-	-	no	no	no	no	NA
PCMTD2	HGNC:15882	MGI:1923927	-	-	no	no	no	no	NA
PCNA	HGNC:8729	MGI:97503	OMIM:615919|ORPHA:438134	Ataxia-Telangiectasia-Like Disorder 2|Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	no	no	no	no	NA
PCNP	HGNC:30023	MGI:1923552	-	-	yes	no	no	no	NA
PCNT	HGNC:16068	MGI:102722	OMIM:210720|ORPHA:808|ORPHA:2637	Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii|Seckel Syndrome|Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	yes	yes	yes	yes	30.625
PCNX1	HGNC:19740	MGI:1891924	-	-	no	no	no	no	NA
PCNX2	HGNC:8736	MGI:2445010	-	-	yes	no	no	no	NA
PCNX3	HGNC:18760	MGI:1861733	-	-	yes	no	no	no	NA
PCNX4	HGNC:20349	MGI:1914958	-	-	yes	no	no	no	NA
PCOLCE	HGNC:8738	MGI:105099	-	-	no	no	no	no	NA
PCOLCE2	HGNC:8739	MGI:1923727	-	-	no	no	no	no	NA
PCP2	HGNC:30209	MGI:97508	-	-	no	no	no	no	NA
PCP4	HGNC:8742	MGI:97509	-	-	no	no	no	no	NA
PCP4L1	HGNC:20448	MGI:1913675	-	-	yes	no	no	no	NA
PCSK1	HGNC:8743	MGI:97511	OMIM:600955|OMIM:612362|ORPHA:71528	Proprotein Convertase 1/3 Deficiency|Body Mass Index Quantitative Trait Locus 12|Obesity Due To Prohormone Convertase I Deficiency	yes	yes	yes	yes	26.745
PCSK1N	HGNC:17301	MGI:1353431	-	-	yes	no	no	no	NA
PCSK2	HGNC:8744	MGI:97512	-	-	yes	no	no	no	NA
PCSK4	HGNC:8746	MGI:97514	-	-	yes	no	no	no	NA
PCSK5	HGNC:8747	MGI:97515	-	-	yes	no	no	no	NA
PCSK6	HGNC:8569	MGI:102897	-	-	yes	no	no	no	NA
PCSK7	HGNC:8748	MGI:107421	-	-	no	no	no	no	NA
PCSK9	HGNC:20001	MGI:2140260	OMIM:603776|ORPHA:406|ORPHA:391665|ORPHA:426	Hypercholesterolemia, Familial, 3|Non Rare In Europe: Heterozygous Familial Hypercholesterolemia|Homozygous Familial Hypercholesterolemia|Non Rare In Europe: Familial Hypobetalipoproteinemia	yes	yes	yes	yes	54.79
PCTP	HGNC:8752	MGI:107375	-	-	no	no	no	no	NA
PCYOX1	HGNC:20588	MGI:1914131	-	-	no	no	no	no	NA
PCYOX1L	HGNC:28477	MGI:3606062	-	-	yes	no	no	no	NA
PCYT1A	HGNC:8754	MGI:88557	OMIM:608940|ORPHA:65|ORPHA:85167	Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy|Leber Congenital Amaurosis|Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	no	no	no	no	NA
PCYT1B	HGNC:8755	MGI:2147987	-	-	no	no	no	no	NA
PCYT2	HGNC:8756	MGI:1915921	OMIM:618770|ORPHA:631073	Spastic Paraplegia 82, Autosomal Recessive|Autosomal Recessive Spastic Paraplegia Type 82	no	no	no	no	NA
PDAP1	HGNC:14634	MGI:2448536	-	-	no	no	no	no	NA
PDC	HGNC:8759	MGI:98090	-	-	no	no	no	no	NA
PDCD1	HGNC:8760	MGI:104879	OMIM:126200|OMIM:605218|ORPHA:802|ORPHA:536	Multiple Sclerosis, Susceptibility To|Systemic Lupus Erythematosus, Susceptibility To, 2|Non Rare In Europe: Multiple Sclerosis|Systemic Lupus Erythematosus	no	no	no	no	NA
PDCD10	HGNC:8761	MGI:1928396	OMIM:603285|ORPHA:221061	Cerebral Cavernous Malformations 3|Familial Cerebral Cavernous Malformation	no	no	no	no	NA
PDCD11	HGNC:13408	MGI:1341788	-	-	no	no	no	no	NA
PDCD1LG2	HGNC:18731	MGI:1930125	-	-	no	no	no	no	NA
PDCD2	HGNC:8762	MGI:104643	-	-	yes	no	no	no	NA
PDCD2L	HGNC:28194	MGI:1915329	-	-	no	no	no	no	NA
PDCD4	HGNC:8763	MGI:107490	-	-	no	no	no	no	NA
PDCD5	HGNC:8764	MGI:1913538	-	-	yes	no	no	no	NA
PDCD6	HGNC:8765	MGI:109283	-	-	no	no	no	no	NA
PDCD6IP	HGNC:8766	MGI:1333753	OMIM:620047	Microcephaly 29, Primary, Autosomal Recessive	yes	yes	yes	yes	25.055
PDCD7	HGNC:8767	MGI:1859170	-	-	yes	no	no	no	NA
PDCL	HGNC:8770	MGI:1914716	-	-	no	no	no	no	NA
PDCL2	HGNC:29524	MGI:1890655	-	-	no	no	no	no	NA
PDCL3	HGNC:28860	MGI:1916083	-	-	no	no	no	no	NA
PDE10A	HGNC:8772	MGI:1345143	OMIM:616921|OMIM:616922|ORPHA:494541|ORPHA:494526	Dyskinesia, Limb And Orofacial, Infantile-Onset|Striatal Degeneration, Autosomal Dominant 2|Childhood-Onset Benign Chorea With Striatal Involvement|Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	yes	yes	yes	yes	32.915
PDE11A	HGNC:8773	MGI:3036251	OMIM:610475|ORPHA:1359	Pigmented Nodular Adrenocortical Disease, Primary, 2|Carney Complex	yes	yes	yes	yes	44.805
PDE12	HGNC:25386	MGI:2443226	-	-	yes	no	no	no	NA
PDE1A	HGNC:8774	MGI:1201792	-	-	yes	no	no	no	NA
PDE1B	HGNC:8775	MGI:97523	-	-	yes	no	no	no	NA
PDE1C	HGNC:8776	MGI:108413	OMIM:618140|ORPHA:90635	Deafness, Autosomal Dominant 74|Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	yes	yes	yes	no	NA
PDE2A	HGNC:8777	MGI:2446107	OMIM:619150|ORPHA:31709	Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures|Infantile Convulsions And Choreoathetosis	yes	yes	yes	no	NA
PDE3A	HGNC:8778	MGI:1860764	OMIM:112410|ORPHA:1276	Hypertension And Brachydactyly Syndrome|Brachydactyly-Arterial Hypertension Syndrome	no	no	no	no	NA
PDE3B	HGNC:8779	MGI:1333863	-	-	yes	no	no	no	NA
PDE4A	HGNC:8780	MGI:99558	-	-	no	no	no	no	NA
PDE4B	HGNC:8781	MGI:99557	-	-	no	no	no	no	NA
PDE4C	HGNC:8782	MGI:99556	-	-	yes	no	no	no	NA
PDE4D	HGNC:8783	MGI:99555	OMIM:614613|ORPHA:950|ORPHA:439822	Acrodysostosis 2 With Or Without Hormone Resistance|Acrodysostosis|Pde4D Haploinsufficiency Syndrome	no	no	no	no	NA
PDE4DIP	HGNC:15580	MGI:1891434	-	-	yes	no	no	no	NA
PDE5A	HGNC:8784	MGI:2651499	-	-	yes	no	no	no	NA
PDE6A	HGNC:8785	MGI:97524	OMIM:613810|ORPHA:791	Retinitis Pigmentosa 43|Retinitis Pigmentosa	yes	yes	yes	no	NA
PDE6B	HGNC:8786	MGI:97525	OMIM:163500|OMIM:613801|ORPHA:791|ORPHA:215	Night Blindness, Congenital Stationary, Autosomal Dominant 2|Retinitis Pigmentosa 40|Retinitis Pigmentosa|Congenital Stationary Night Blindness	yes	yes	yes	yes	25.475
PDE6C	HGNC:8787	MGI:105956	OMIM:613093|ORPHA:1871|ORPHA:49382	Cone Dystrophy 4|Progressive Cone Dystrophy|Achromatopsia	no	no	no	no	NA
PDE6D	HGNC:8788	MGI:1270843	OMIM:615665|ORPHA:475|ORPHA:2754	Joubert Syndrome 22|Joubert Syndrome|Orofaciodigital Syndrome Type 6	no	no	no	no	NA
PDE6G	HGNC:8789	MGI:97526	OMIM:613582|ORPHA:791	Retinitis Pigmentosa 57|Retinitis Pigmentosa	no	no	no	no	NA
PDE6H	HGNC:8790	MGI:1925850	OMIM:610024|ORPHA:49382	Retinal Cone Dystrophy 3A|Achromatopsia	no	no	no	no	NA
PDE7A	HGNC:8791	MGI:1202402	-	-	no	no	no	no	NA
PDE7B	HGNC:8792	MGI:1352752	-	-	yes	no	no	no	NA
PDE8A	HGNC:8793	MGI:1277116	-	-	yes	no	no	no	NA
PDE8B	HGNC:8794	MGI:2443999	OMIM:614190|OMIM:609161|ORPHA:228169	Pigmented Nodular Adrenocortical Disease, Primary, 3|Striatal Degeneration, Autosomal Dominant 1|Autosomal Dominant Striatal Neurodegeneration	no	no	no	no	NA
PDE9A	HGNC:8795	MGI:1277179	-	-	no	no	no	no	NA
PDF	HGNC:30012	MGI:1915273	-	-	yes	no	no	no	NA
PDGFA	HGNC:8799	MGI:97527	-	-	no	no	no	no	NA
PDGFB	HGNC:8800	MGI:97528	OMIM:615483|OMIM:607907|OMIM:607174|ORPHA:2495|ORPHA:1980|ORPHA:263662|ORPHA:31112	Basal Ganglia Calcification, Idiopathic, 5|Dermatofibrosarcoma Protuberans|Meningioma, Familial, Susceptibility To|Meningioma|Bilateral Striopallidodentate Calcinosis|Familial Multiple Meningioma	no	no	no	no	NA
PDGFC	HGNC:8801	MGI:1859631	-	-	yes	no	no	no	NA
PDGFD	HGNC:30620	MGI:1919035	-	-	yes	no	no	no	NA
PDGFRA	HGNC:8803	MGI:97530	OMIM:175510|OMIM:607685|ORPHA:168947|ORPHA:168940|ORPHA:199306|ORPHA:314950|ORPHA:44890|ORPHA:585877	Gist-Plus Syndrome|Hypereosinophilic Syndrome, Idiopathic|Myeloid/Lymphoid Neoplasm Associated With Pdgfra Rearrangement|Chronic Eosinophilic Leukemia|Cleft Lip/Palate|Primary Hypereosinophilic Syndrome|Gastrointestinal Stromal Tumor|B-Lymphoblastic Leukemia/Lymphoma With Recurrent Genetic Abnormality	no	no	no	no	NA
PDGFRB	HGNC:8804	MGI:97531	OMIM:615007|OMIM:616592|OMIM:131440|OMIM:228550|OMIM:601812|ORPHA:168950|ORPHA:1980|ORPHA:2591|ORPHA:314950|ORPHA:363665|ORPHA:477831|ORPHA:86830|ORPHA:98823	Basal Ganglia Calcification, Idiopathic, 4|Kosaki Overgrowth Syndrome|Myeloproliferative Disorder, Chronic, With Eosinophilia|Myofibromatosis, Infantile, 1|Premature Aging Syndrome, Penttinen Type|Myeloid/Lymphoid Neoplasm Associated With Pdgfrb Rearrangement|Bilateral Striopallidodentate Calcinosis|Infantile Myofibromatosis|Primary Hypereosinophilic Syndrome|Acroosteolysis-Keloid-Like Lesions-Premature Aging Syndrome|Chronic Myeloproliferative Disease, Unclassifiable|Chronic Myelomonocytic Leukemia	yes	yes	yes	yes	23.39
PDGFRL	HGNC:8805	MGI:1916047	OMIM:114500|OMIM:114550|ORPHA:210159	Colorectal Cancer|Hepatocellular Carcinoma|Adult Hepatocellular Carcinoma	yes	yes	yes	no	NA
PDHA1	HGNC:8806	MGI:97532	OMIM:312170|ORPHA:79243	Pyruvate Dehydrogenase E1-Alpha Deficiency	no	no	no	no	NA
PDHA2	HGNC:8807	MGI:97533	OMIM:619828|ORPHA:399805	Spermatogenic Failure 70|Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	yes	yes	yes	no	NA
PDHB	HGNC:8808	MGI:1915513	OMIM:614111|ORPHA:255138	Pyruvate Dehydrogenase E1-Beta Deficiency	yes	yes	yes	yes	32.575
PDHX	HGNC:21350	MGI:1351627	OMIM:245349|ORPHA:255182	Pyruvate Dehydrogenase E3-Binding Protein Deficiency	yes	yes	yes	yes	31.485
PDIA2	HGNC:14180	MGI:1916441	-	-	no	no	no	no	NA
PDIA3	HGNC:4606	MGI:95834	-	-	yes	no	no	no	NA
PDIA4	HGNC:30167	MGI:104864	-	-	yes	no	no	no	NA
PDIA5	HGNC:24811	MGI:1919849	-	-	no	no	no	no	NA
PDIA6	HGNC:30168	MGI:1919103	-	-	yes	no	no	no	NA
PDIK1L	HGNC:18981	MGI:2385213	-	-	yes	no	no	no	NA
PDILT	HGNC:27338	MGI:1919080	-	-	no	no	no	no	NA
PDK1	HGNC:8809	MGI:1926119	-	-	yes	no	no	no	NA
PDK2	HGNC:8810	MGI:1343087	-	-	yes	no	no	no	NA
PDK3	HGNC:8811	MGI:2384308	OMIM:300905|ORPHA:352675	Charcot-Marie-Tooth Disease, X-Linked Dominant, 6|X-Linked Charcot-Marie-Tooth Disease Type 6	yes	no	yes	no	NA
PDK4	HGNC:8812	MGI:1351481	-	-	yes	no	no	no	NA
PDLIM1	HGNC:2067	MGI:1860611	-	-	yes	no	no	no	NA
PDLIM2	HGNC:13992	MGI:2384850	-	-	no	no	no	no	NA
PDLIM3	HGNC:20767	MGI:1859274	-	-	no	no	no	no	NA
PDLIM4	HGNC:16501	MGI:1353470	OMIM:166710	Osteoporosis	yes	yes	yes	no	NA
PDLIM5	HGNC:17468	MGI:1927489	-	-	no	no	no	no	NA
PDLIM7	HGNC:22958	MGI:1914649	-	-	yes	no	no	no	NA
PDP1	HGNC:9279	MGI:2685870	OMIM:608782|ORPHA:79246	Pyruvate Dehydrogenase Phosphatase Deficiency	yes	yes	yes	no	NA
PDP2	HGNC:30263	MGI:1918878	-	-	yes	no	no	no	NA
PDPK1	HGNC:8816	MGI:1338068	-	-	no	no	no	no	NA
PDPN	HGNC:29602	MGI:103098	ORPHA:1606	1P36 Deletion Syndrome	yes	yes	yes	yes	13.77
PDPR	HGNC:30264	MGI:2442188	-	-	yes	no	no	no	NA
PDRG1	HGNC:16119	MGI:1915809	-	-	no	no	no	no	NA
PDS5A	HGNC:29088	MGI:1918771	-	-	no	no	no	no	NA
PDS5B	HGNC:20418	MGI:2140945	-	-	no	no	no	no	NA
PDSS1	HGNC:17759	MGI:1889278	OMIM:614651|ORPHA:254898	Coenzyme Q10 Deficiency, Primary, 2|Deafness-Encephaloneuropathy-Obesity-Valvulopathy Syndrome	yes	yes	yes	yes	26.535
PDSS2	HGNC:23041	MGI:1918615	OMIM:614652	Coenzyme Q10 Deficiency, Primary, 3	yes	yes	yes	yes	25.32
PDX1	HGNC:6107	MGI:102851	OMIM:125853|OMIM:606392|OMIM:260370|ORPHA:2805|ORPHA:552|ORPHA:99885	Type 2 Diabetes Mellitus|Maturity-Onset Diabetes Of The Young, Type 4|Pancreatic Agenesis 1|Partial Pancreatic Agenesis|Mody|Isolated Permanent Neonatal Diabetes Mellitus	yes	yes	yes	yes	96.08
PDXDC1	HGNC:28995	MGI:1920909	-	-	yes	no	no	no	NA
PDXK	HGNC:8819	MGI:1351869	OMIM:618511	Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy	yes	yes	yes	no	NA
PDXP	HGNC:30259	MGI:1919282	-	-	yes	no	no	no	NA
PDYN	HGNC:8820	MGI:97535	OMIM:610245|ORPHA:101108	Spinocerebellar Ataxia 23|Spinocerebellar Ataxia Type 23	yes	yes	yes	no	NA
PDZD11	HGNC:28034	MGI:1919871	-	-	no	no	no	no	NA
PDZD2	HGNC:18486	MGI:1922394	-	-	yes	no	no	no	NA
PDZD4	HGNC:21167	MGI:2443483	-	-	no	no	no	no	NA
PDZD7	HGNC:26257	MGI:3608325	OMIM:618003|OMIM:276901|OMIM:605472|ORPHA:231178	Deafness, Autosomal Recessive 57|Usher Syndrome, Type Iia|Usher Syndrome, Type Iic|Usher Syndrome Type 2	no	no	no	no	NA
PDZD8	HGNC:26974	MGI:2677270	OMIM:620021	Intellectual Developmental Disorder With Autism And Dysmorphic Facies	yes	yes	yes	yes	44.785
PDZD9	HGNC:28740	MGI:1915233	-	-	no	no	no	no	NA
PDZK1	HGNC:8821	MGI:1928901	-	-	yes	no	no	no	NA
PDZK1IP1	HGNC:16887	MGI:1914432	-	-	no	no	no	no	NA
PDZRN3	HGNC:17704	MGI:1933157	-	-	yes	no	no	no	NA
PDZRN4	HGNC:30552	MGI:3056996	-	-	no	no	no	no	NA
PEA15	HGNC:8822	MGI:104799	-	-	no	no	no	no	NA
PEAK1	HGNC:29431	MGI:2442366	-	-	yes	no	no	no	NA
PEAR1	HGNC:33631	MGI:1920432	-	-	yes	no	no	no	NA
PEBP4	HGNC:28319	MGI:1920773	-	-	yes	no	no	no	NA
PECAM1	HGNC:8823	MGI:97537	-	-	no	no	no	no	NA
PECR	HGNC:18281	MGI:2148199	-	-	no	no	no	no	NA
PEDS1	HGNC:16735	MGI:2142624	-	-	yes	no	no	no	NA
PEF1	HGNC:30009	MGI:1915148	-	-	yes	no	no	no	NA
PEG10	HGNC:14005	MGI:2157785	-	-	no	no	no	no	NA
PEG3	HGNC:8826	MGI:104748	-	-	no	no	no	no	NA
PELI1	HGNC:8827	MGI:1914495	-	-	yes	no	no	no	NA
PELI2	HGNC:8828	MGI:1891445	-	-	no	no	no	no	NA
PELI3	HGNC:30010	MGI:1924963	-	-	yes	no	no	no	NA
PELO	HGNC:8829	MGI:2145154	-	-	no	no	no	no	NA
PELP1	HGNC:30134	MGI:1922523	-	-	no	no	no	no	NA
PEMT	HGNC:8830	MGI:104535	-	-	no	no	no	no	NA
PENK	HGNC:8831	MGI:104629	-	-	yes	no	no	no	NA
PEPD	HGNC:8840	MGI:97542	OMIM:170100|ORPHA:742	Prolidase Deficiency	yes	yes	yes	yes	42.19
PER1	HGNC:8845	MGI:1098283	-	-	no	no	no	no	NA
PER2	HGNC:8846	MGI:1195265	OMIM:604348|ORPHA:164736	Advanced Sleep Phase Syndrome, Familial, 1|Familial Advanced Sleep-Phase Syndrome	yes	yes	yes	no	NA
PER3	HGNC:8847	MGI:1277134	OMIM:616882|ORPHA:164736	Advanced Sleep Phase Syndrome, Familial, 3|Familial Advanced Sleep-Phase Syndrome	no	no	no	no	NA
PERCC1	HGNC:52293	MGI:5621540	OMIM:618662|ORPHA:92050	Diarrhea 11, Malabsorptive, Congenital|Congenital Tufting Enteropathy	no	no	no	no	NA
PERM1	HGNC:28208	MGI:1921433	-	-	no	no	no	no	NA
PERP	HGNC:17637	MGI:1929938	OMIM:619209|OMIM:619208|ORPHA:659	Erythrokeratodermia Variabilis Et Progressiva 7|Olmsted Syndrome 2|Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	no	no	no	no	NA
PES1	HGNC:8848	MGI:1890613	-	-	yes	no	no	no	NA
PET100	HGNC:40038	MGI:3615306	OMIM:619055	Mitochondrial Complex Iv Deficiency, Nuclear Type 12	no	no	no	no	NA
PET117	HGNC:40045	MGI:5295678	OMIM:619063|ORPHA:254905	Mitochondrial Complex Iv Deficiency, Nuclear Type 19|Isolated Cytochrome C Oxidase Deficiency	no	no	no	no	NA
PEX1	HGNC:8850	MGI:1918632	OMIM:234580|OMIM:214100|OMIM:601539|ORPHA:912|ORPHA:44|ORPHA:3220|ORPHA:772	Heimler Syndrome 1|Peroxisome Biogenesis Disorder 1A (Zellweger)|Peroxisome Biogenesis Disorder 1B|Zellweger Syndrome|Neonatal Adrenoleukodystrophy|Deafness-Enamel Hypoplasia-Nail Defects Syndrome|Infantile Refsum Disease	yes	yes	yes	yes	44.4
PEX10	HGNC:8851	MGI:2684988	OMIM:614870|OMIM:614871|ORPHA:912|ORPHA:44|ORPHA:247815|ORPHA:772	Peroxisome Biogenesis Disorder 6A (Zellweger)|Peroxisome Biogenesis Disorder 6B|Zellweger Syndrome|Neonatal Adrenoleukodystrophy|Autosomal Recessive Ataxia Due To Pex10 Deficiency|Infantile Refsum Disease	no	no	no	no	NA
PEX11A	HGNC:8852	MGI:1338788	-	-	no	no	no	no	NA
PEX11B	HGNC:8853	MGI:1338882	OMIM:614920|ORPHA:912|ORPHA:44|ORPHA:772	Peroxisome Biogenesis Disorder 14B|Zellweger Syndrome|Neonatal Adrenoleukodystrophy|Infantile Refsum Disease	no	no	no	no	NA
PEX11G	HGNC:20208	MGI:1920905	-	-	yes	no	no	no	NA
PEX12	HGNC:8854	MGI:2144177	OMIM:614859|OMIM:266510|ORPHA:912|ORPHA:44|ORPHA:772	Peroxisome Biogenesis Disorder 3A (Zellweger)|Peroxisome Biogenesis Disorder 3B|Zellweger Syndrome|Neonatal Adrenoleukodystrophy|Infantile Refsum Disease	no	no	no	no	NA
PEX13	HGNC:8855	MGI:1919379	OMIM:614883|OMIM:614885|ORPHA:912|ORPHA:44|ORPHA:772	Peroxisome Biogenesis Disorder 11A (Zellweger)|Peroxisome Biogenesis Disorder 11B|Zellweger Syndrome|Neonatal Adrenoleukodystrophy|Infantile Refsum Disease	no	no	no	no	NA
PEX14	HGNC:8856	MGI:1927868	OMIM:614887|ORPHA:912|ORPHA:44|ORPHA:772	Peroxisome Biogenesis Disorder 13A (Zellweger)|Zellweger Syndrome|Neonatal Adrenoleukodystrophy|Infantile Refsum Disease	yes	yes	yes	yes	29.105
PEX16	HGNC:8857	MGI:1338829	OMIM:614876|OMIM:614877|ORPHA:912|ORPHA:44|ORPHA:772|ORPHA:642954	Peroxisome Biogenesis Disorder 8A (Zellweger)|Peroxisome Biogenesis Disorder 8B|Zellweger Syndrome|Neonatal Adrenoleukodystrophy|Infantile Refsum Disease|Autosomal Recessive Ataxia Due To Pex16 Deficiency	yes	yes	yes	no	NA
PEX19	HGNC:9713	MGI:1334458	OMIM:614886|ORPHA:912|ORPHA:44|ORPHA:772	Peroxisome Biogenesis Disorder 12A (Zellweger)|Zellweger Syndrome|Neonatal Adrenoleukodystrophy|Infantile Refsum Disease	yes	yes	yes	no	NA
PEX2	HGNC:9717	MGI:107486	OMIM:614866|OMIM:614867|ORPHA:912|ORPHA:44|ORPHA:772|ORPHA:642965	Peroxisome Biogenesis Disorder 5A (Zellweger)|Peroxisome Biogenesis Disorder 5B|Zellweger Syndrome|Neonatal Adrenoleukodystrophy|Infantile Refsum Disease|Autosomal Recessive Ataxia Due To Pex2 Deficiency	no	no	no	no	NA
PEX26	HGNC:22965	MGI:1921293	OMIM:614872|OMIM:614873|ORPHA:912|ORPHA:44|ORPHA:772	Peroxisome Biogenesis Disorder 7A (Zellweger)|Peroxisome Biogenesis Disorder 7B|Zellweger Syndrome|Neonatal Adrenoleukodystrophy|Infantile Refsum Disease	yes	yes	yes	yes	23.755
PEX3	HGNC:8858	MGI:1929646	OMIM:617370|OMIM:614882|ORPHA:912|ORPHA:44|ORPHA:772	Peroxisome Biogenesis Disorder 10B|Peroxisome Biogenesis Disorder 10A (Zellweger)|Zellweger Syndrome|Neonatal Adrenoleukodystrophy|Infantile Refsum Disease	yes	yes	yes	yes	43.305
PEX5	HGNC:9719	MGI:1098808	OMIM:214110|OMIM:202370|OMIM:616716|ORPHA:912|ORPHA:44|ORPHA:772|ORPHA:468717	Peroxisome Biogenesis Disorder 2A (Zellweger)|Peroxisome Biogenesis Disorder 2B|Rhizomelic Chondrodysplasia Punctata, Type 5|Zellweger Syndrome|Neonatal Adrenoleukodystrophy|Infantile Refsum Disease|Rhizomelic Chondrodysplasia Punctata Type 5	no	no	no	no	NA
PEX5L	HGNC:30024	MGI:1916672	-	-	no	no	no	no	NA
PEX6	HGNC:8859	MGI:2385054	OMIM:616617|OMIM:614862|OMIM:614863|ORPHA:912|ORPHA:44|ORPHA:3220|ORPHA:772|ORPHA:95433	Heimler Syndrome 2|Peroxisome Biogenesis Disorder 4A (Zellweger)|Peroxisome Biogenesis Disorder 4B|Zellweger Syndrome|Neonatal Adrenoleukodystrophy|Deafness-Enamel Hypoplasia-Nail Defects Syndrome|Infantile Refsum Disease|Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	yes	yes	yes	yes	54.37
PEX7	HGNC:8860	MGI:1321392	OMIM:614879|OMIM:215100|ORPHA:773|ORPHA:309789	Peroxisome Biogenesis Disorder 9B|Rhizomelic Chondrodysplasia Punctata, Type 1|Refsum Disease|Rhizomelic Chondrodysplasia Punctata Type 1	no	no	no	no	NA
PFAS	HGNC:8863	MGI:2684864	-	-	yes	no	no	no	NA
PFDN1	HGNC:8866	MGI:1914449	-	-	yes	no	no	no	NA
PFDN2	HGNC:8867	MGI:1276111	-	-	yes	no	no	no	NA
PFDN4	HGNC:8868	MGI:1923512	-	-	no	no	no	no	NA
PFDN5	HGNC:8869	MGI:1928753	-	-	yes	no	no	no	NA
PFDN6	HGNC:4926	MGI:95908	-	-	yes	no	no	no	NA
PFKFB1	HGNC:8872	MGI:107816	-	-	yes	no	no	no	NA
PFKFB2	HGNC:8873	MGI:107815	-	-	yes	no	no	no	NA
PFKFB3	HGNC:8874	MGI:2181202	-	-	yes	no	no	no	NA
PFKFB4	HGNC:8875	MGI:2687284	-	-	yes	no	no	no	NA
PFKL	HGNC:8876	MGI:97547	-	-	yes	no	no	no	NA
PFKM	HGNC:8877	MGI:97548	OMIM:232800|ORPHA:371	Glycogen Storage Disease Vii|Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	yes	yes	yes	yes	28.075
PFKP	HGNC:8878	MGI:1891833	-	-	no	no	no	no	NA
PFN1	HGNC:8881	MGI:97549	OMIM:614808|ORPHA:803	Amyotrophic Lateral Sclerosis 18|Amyotrophic Lateral Sclerosis	yes	yes	yes	no	NA
PFN2	HGNC:8882	MGI:97550	-	-	no	no	no	no	NA
PFN3	HGNC:18627	MGI:2178800	-	-	no	no	no	no	NA
PFN4	HGNC:31103	MGI:1920121	-	-	yes	no	no	no	NA
PGAM1	HGNC:8888	MGI:97552	-	-	no	no	no	no	NA
PGAM2	HGNC:8889	MGI:1933118	OMIM:261670|ORPHA:97234	Glycogen Storage Disease X|Glycogen Storage Disease Due To Phosphoglycerate Mutase Deficiency	yes	yes	yes	no	NA
PGAM5	HGNC:28763	MGI:1919792	-	-	yes	no	no	no	NA
PGAP1	HGNC:25712	MGI:2443342	OMIM:615802|ORPHA:401820|ORPHA:88616	Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities|Autosomal Recessive Spastic Paraplegia Type 67|Autosomal Recessive Non-Syndromic Intellectual Disability	yes	yes	yes	no	NA
PGAP2	HGNC:17893	MGI:2385286	OMIM:614207|ORPHA:247262	Hyperphosphatasia With Impaired Intellectual Development Syndrome 3|Hyperphosphatasia-Intellectual Disability Syndrome	yes	yes	yes	no	NA
PGAP3	HGNC:23719	MGI:2444461	OMIM:615716|ORPHA:247262	Hyperphosphatasia With Impaired Intellectual Development Syndrome 4|Hyperphosphatasia-Intellectual Disability Syndrome	no	no	no	no	NA
PGAP4	HGNC:28180	MGI:1914313	-	-	yes	no	no	no	NA
PGAP6	HGNC:17205	MGI:1926283	-	-	yes	no	no	no	NA
PGBD1	HGNC:19398	MGI:2441675	-	-	yes	no	no	no	NA
PGBD5	HGNC:19405	MGI:2429955	-	-	yes	no	no	no	NA
PGC	HGNC:8890	MGI:98909	-	-	yes	no	no	no	NA
PGD	HGNC:8891	MGI:97553	-	-	yes	no	no	no	NA
PGF	HGNC:8893	MGI:105095	-	-	no	no	no	no	NA
PGGHG	HGNC:26210	MGI:2444047	-	-	no	no	no	no	NA
PGGT1B	HGNC:8895	MGI:1917514	-	-	no	no	no	no	NA
PGK1	HGNC:8896	MGI:97555	OMIM:300653|ORPHA:713	Phosphoglycerate Kinase 1 Deficiency|Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	no	no	no	no	NA
PGK2	HGNC:8898	MGI:97563	-	-	no	no	no	no	NA
PGLS	HGNC:8903	MGI:1913421	-	-	yes	no	no	no	NA
PGLYRP1	HGNC:8904	MGI:1345092	-	-	no	no	no	no	NA
PGLYRP2	HGNC:30013	MGI:1928099	-	-	no	no	no	no	NA
PGLYRP3	HGNC:30014	MGI:2685266	-	-	no	no	no	no	NA
PGLYRP4	HGNC:30015	MGI:2686324	-	-	yes	no	no	no	NA
PGM1	HGNC:8905	MGI:97565	OMIM:614921|ORPHA:319646	Congenital Disorder Of Glycosylation, Type It|Pgm1-Cdg	yes	yes	yes	no	NA
PGM2	HGNC:8906	MGI:97564	-	-	no	no	no	no	NA
PGM2L1	HGNC:20898	MGI:1918224	OMIM:620191	Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	no	no	no	no	NA
PGM3	HGNC:8907	MGI:97566	OMIM:615816|ORPHA:443811|ORPHA:641368	Immunodeficiency 23|Pgm3-Cdg|Autosomal Recessive Hyper-Ige Syndrome	yes	yes	yes	no	NA
PGM5	HGNC:8908	MGI:1925668	-	-	no	no	no	no	NA
PGP	HGNC:8909	MGI:1914328	-	-	no	no	no	no	NA
PGPEP1	HGNC:13568	MGI:1913772	-	-	no	no	no	no	NA
PGPEP1L	HGNC:27080	MGI:1925694	-	-	no	no	no	no	NA
PGR	HGNC:8910	MGI:97567	OMIM:264080	Progesterone Resistance	no	no	no	no	NA
PGRMC1	HGNC:16090	MGI:1858305	ORPHA:619|ORPHA:98994	Non Rare In Europe: Primary Ovarian Failure|Total Early-Onset Cataract	no	no	no	no	NA
PGRMC2	HGNC:16089	MGI:1918054	-	-	no	no	no	no	NA
PGS1	HGNC:30029	MGI:1921701	-	-	yes	no	no	no	NA
PHACTR1	HGNC:20990	MGI:2659021	OMIM:618298|ORPHA:3451	Developmental And Epileptic Encephalopathy 70|Infantile Spasms Syndrome	yes	yes	yes	yes	28.445
PHACTR2	HGNC:20956	MGI:2446138	-	-	yes	no	no	no	NA
PHACTR3	HGNC:15833	MGI:1921439	-	-	yes	no	no	no	NA
PHACTR4	HGNC:25793	MGI:2140327	-	-	yes	no	no	no	NA
PHAF1	HGNC:29564	MGI:2443049	-	-	no	no	no	no	NA
PHAX	HGNC:10241	MGI:1891839	-	-	no	no	no	no	NA
PHB1	HGNC:8912	MGI:97572	OMIM:114480	Breast Cancer	yes	yes	yes	no	NA
PHB2	HGNC:30306	MGI:102520	-	-	no	no	no	no	NA
PHC1	HGNC:3182	MGI:103248	OMIM:615414|ORPHA:2512	Microcephaly 11, Primary, Autosomal Recessive|Autosomal Recessive Primary Microcephaly	no	no	no	no	NA
PHC2	HGNC:3183	MGI:1860454	-	-	no	no	no	no	NA
PHC3	HGNC:15682	MGI:2181434	-	-	yes	no	no	no	NA
PHETA1	HGNC:26509	MGI:2442708	-	-	yes	no	no	no	NA
PHETA2	HGNC:27161	MGI:2443609	-	-	yes	no	no	no	NA
PHEX	HGNC:8918	MGI:107489	OMIM:307800|ORPHA:89936	Hypophosphatemic Rickets, X-Linked Dominant|X-Linked Hypophosphatemia	yes	yes	yes	yes	70.2
PHF1	HGNC:8919	MGI:98647	-	-	yes	no	no	no	NA
PHF10	HGNC:18250	MGI:1919307	-	-	yes	no	no	no	NA
PHF12	HGNC:20816	MGI:1924057	-	-	no	no	no	no	NA
PHF13	HGNC:22983	MGI:2446217	-	-	no	no	no	no	NA
PHF14	HGNC:22203	MGI:1923539	-	-	yes	no	no	no	NA
PHF19	HGNC:24566	MGI:1921266	-	-	yes	no	no	no	NA
PHF2	HGNC:8920	MGI:1338034	-	-	no	no	no	no	NA
PHF20	HGNC:16098	MGI:2444148	-	-	yes	no	no	no	NA
PHF20L1	HGNC:24280	MGI:2444412	-	-	yes	no	no	no	NA
PHF21A	HGNC:24156	MGI:2384756	OMIM:618725|ORPHA:52022	Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures|Potocki-Shaffer Syndrome	no	no	no	no	NA
PHF21B	HGNC:25161	MGI:2443812	-	-	yes	no	no	no	NA
PHF23	HGNC:28428	MGI:1925496	-	-	no	no	no	no	NA
PHF24	HGNC:29180	MGI:2140712	-	-	yes	no	no	no	NA
PHF3	HGNC:8921	MGI:2446126	-	-	yes	no	no	no	NA
PHF5A	HGNC:18000	MGI:2156864	-	-	yes	no	no	no	NA
PHF6	HGNC:18145	MGI:1918248	OMIM:301900|ORPHA:127	Borjeson-Forssman-Lehmann Syndrome	yes	yes	yes	yes	33.835
PHF7	HGNC:18458	MGI:1919088	-	-	yes	no	no	no	NA
PHF8	HGNC:20672	MGI:2444341	OMIM:300263|ORPHA:85287	Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type|X-Linked Intellectual Disability, Siderius Type	yes	yes	yes	no	NA
PHGDH	HGNC:8923	MGI:1355330	OMIM:256520|OMIM:601815|ORPHA:79351|ORPHA:583607	Neu-Laxova Syndrome 1|Phosphoglycerate Dehydrogenase Deficiency|3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form|Neu-Laxova Syndrome Due To 3-Phosphoglycerate Dehydrogenase Deficiency	yes	yes	yes	yes	44.235
PHIP	HGNC:15673	MGI:1932404	OMIM:617991|ORPHA:589905	Chung-Jansen Syndrome|Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	yes	yes	yes	yes	42.735
PHKA1	HGNC:8925	MGI:97576	OMIM:300559|ORPHA:715	Glycogen Storage Disease Ixd|Glycogen Storage Disease Due To Muscle Phosphorylase Kinase Deficiency	yes	yes	yes	no	NA
PHKA2	HGNC:8926	MGI:97577	OMIM:306000|ORPHA:264580	Glycogen Storage Disease Ixa1|Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	yes	no	yes	no	NA
PHKB	HGNC:8927	MGI:97578	OMIM:261750|ORPHA:79240	Glycogen Storage Disease Ixb|Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	yes	yes	yes	yes	15.82
PHKG1	HGNC:8930	MGI:97579	ORPHA:715	Glycogen Storage Disease Due To Muscle Phosphorylase Kinase Deficiency	yes	yes	no	no	NA
PHKG2	HGNC:8931	MGI:1916211	OMIM:613027|ORPHA:264580	Glycogen Storage Disease Ixc|Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	yes	yes	yes	yes	32.27
PHLDA1	HGNC:8933	MGI:1096880	-	-	no	no	no	no	NA
PHLDA2	HGNC:12385	MGI:1202307	-	-	no	no	no	no	NA
PHLDA3	HGNC:8934	MGI:1351485	-	-	no	no	no	no	NA
PHLDB1	HGNC:23697	MGI:2143230	-	-	yes	no	no	no	NA
PHLDB2	HGNC:29573	MGI:2444981	-	-	yes	no	no	no	NA
PHLDB3	HGNC:30499	MGI:3642959	-	-	no	no	no	no	NA
PHLPP1	HGNC:20610	MGI:2138327	-	-	yes	no	no	no	NA
PHLPP2	HGNC:29149	MGI:2444928	-	-	yes	no	no	no	NA
PHOSPHO1	HGNC:16815	MGI:2447348	-	-	no	no	no	no	NA
PHOSPHO2	HGNC:28316	MGI:1920623	-	-	no	no	no	no	NA
PHOX2A	HGNC:691	MGI:106633	OMIM:602078|ORPHA:45358	Fibrosis Of Extraocular Muscles, Congenital, 2|Congenital Fibrosis Of Extraocular Muscles	no	no	no	no	NA
PHOX2B	HGNC:9143	MGI:1100882	OMIM:209880|OMIM:613013|ORPHA:635|ORPHA:661|ORPHA:2151|ORPHA:99803	Central Hypoventilation Syndrome, Congenital, 1|Neuroblastoma, Susceptibility To, 2|Neuroblastoma|Congenital Central Hypoventilation Syndrome|Hirschsprung Disease-Ganglioneuroblastoma Syndrome|Haddad Syndrome	no	no	no	no	NA
PHPT1	HGNC:30033	MGI:1922704	-	-	yes	no	no	no	NA
PHRF1	HGNC:24351	MGI:2141847	-	-	yes	no	no	no	NA
PHTF1	HGNC:8939	MGI:1332671	-	-	yes	no	no	no	NA
PHTF2	HGNC:13411	MGI:1916020	-	-	yes	no	no	no	NA
PHYH	HGNC:8940	MGI:891978	OMIM:266500|ORPHA:773	Refsum Disease, Classic|Refsum Disease	yes	yes	yes	yes	13.635
PHYHD1	HGNC:23396	MGI:3612860	-	-	no	no	no	no	NA
PHYHIP	HGNC:16865	MGI:1860417	-	-	no	no	no	no	NA
PHYHIPL	HGNC:29378	MGI:1918161	-	-	no	no	no	no	NA
PHYKPL	HGNC:28249	MGI:1920197	OMIM:615011	Phosphohydroxylysinuria	yes	yes	yes	yes	31.395
PI15	HGNC:8946	MGI:1934659	-	-	yes	no	no	no	NA
PI16	HGNC:21245	MGI:1921366	-	-	yes	no	no	no	NA
PI4K2A	HGNC:30031	MGI:1934031	-	-	no	no	no	no	NA
PI4K2B	HGNC:18215	MGI:1914323	-	-	no	no	no	no	NA
PI4KA	HGNC:8983	MGI:2448506	OMIM:619708|OMIM:616531|OMIM:619621|ORPHA:436252|ORPHA:98889|ORPHA:631079	Gastrointestinal Defects And Immunodeficiency Syndrome 2|Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities|Spastic Paraplegia 84, Autosomal Recessive|Combined Immunodeficiency-Enteropathy Spectrum|Bilateral Perisylvian Polymicrogyria|Autosomal Recessive Spastic Paraplegia Type 84	yes	yes	yes	yes	28.175
PI4KB	HGNC:8984	MGI:1334433	OMIM:620281	Deafness, Autosomal Dominant 87	no	no	no	no	NA
PIANP	HGNC:25338	MGI:2441908	-	-	no	no	no	no	NA
PIAS1	HGNC:2752	MGI:1913125	-	-	no	no	no	no	NA
PIAS2	HGNC:17311	MGI:1096566	-	-	yes	no	no	no	NA
PIAS3	HGNC:16861	MGI:1913126	-	-	no	no	no	no	NA
PIAS4	HGNC:17002	MGI:2136940	-	-	no	no	no	no	NA
PIBF1	HGNC:23352	MGI:1261910	OMIM:617767|ORPHA:475	Joubert Syndrome 33|Joubert Syndrome	yes	yes	yes	yes	34.08
PICALM	HGNC:15514	MGI:2385902	OMIM:601626|ORPHA:99861	Leukemia, Acute Myeloid|Precursor T-Cell Acute Lymphoblastic Leukemia	no	no	no	no	NA
PICK1	HGNC:9394	MGI:894645	ORPHA:171709	Male Infertility Due To Globozoospermia	no	no	no	no	NA
PID1	HGNC:26084	MGI:2138391	-	-	no	no	no	no	NA
PIDD1	HGNC:16491	MGI:1889507	OMIM:619827	Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	no	no	no	no	NA
PIERCE1	HGNC:28435	MGI:1916577	-	-	yes	no	no	no	NA
PIERCE2	HGNC:44654	MGI:3648770	-	-	yes	no	no	no	NA
PIEZO1	HGNC:28993	MGI:3603204	OMIM:194380|OMIM:616843|OMIM:620207|ORPHA:3202|ORPHA:79452	Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema|Lymphatic Malformation 6|Blood Group, Er|Dehydrated Hereditary Stomatocytosis|Milroy Disease	yes	yes	yes	yes	44.155
PIEZO2	HGNC:26270	MGI:1918781	OMIM:248700|OMIM:114300|OMIM:108145|OMIM:617146|ORPHA:1154|ORPHA:376|ORPHA:2461	Marden-Walker Syndrome|Arthrogryposis, Distal, Type 3|Arthrogryposis, Distal, Type 5|Arthrogryposis, Distal, With Impaired Proprioception And Touch|Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome|Gordon Syndrome	yes	yes	yes	yes	29.335
PIF1	HGNC:26220	MGI:2143057	-	-	no	no	no	no	NA
PIGA	HGNC:8957	MGI:99461	OMIM:300868|OMIM:301072|OMIM:300818|ORPHA:447|ORPHA:3451|ORPHA:293181|ORPHA:300496|ORPHA:397922	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2|Neurodevelopmental Disorder With Epilepsy And Hemochromatosis|Paroxysmal Nocturnal Hemoglobinuria 1|Paroxysmal Nocturnal Hemoglobinuria|Infantile Spasms Syndrome|Malignant Migrating Focal Seizures Of Infancy|Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 2|Ferro-Cerebro-Cutaneous Syndrome	no	no	no	no	NA
PIGB	HGNC:8959	MGI:1891825	OMIM:618580	Developmental And Epileptic Encephalopathy 80	no	no	no	no	NA
PIGC	HGNC:8960	MGI:1914542	OMIM:617816|ORPHA:88616	Glycosylphosphatidylinositol Biosynthesis Defect 16|Autosomal Recessive Non-Syndromic Intellectual Disability	yes	yes	yes	no	NA
PIGF	HGNC:8962	MGI:99462	OMIM:619356	Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	yes	yes	yes	no	NA
PIGG	HGNC:25985	MGI:3576484	OMIM:616917|OMIM:619812|ORPHA:280|ORPHA:488635	Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy|Blood Group, Emm System|Wolf-Hirschhorn Syndrome|Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	no	no	no	no	NA
PIGH	HGNC:8964	MGI:99463	OMIM:618010	Glycosylphosphatidylinositol Biosynthesis Defect 17	yes	yes	yes	yes	21.865
PIGK	HGNC:8965	MGI:1913863	OMIM:618879	Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	yes	yes	yes	no	NA
PIGL	HGNC:8966	MGI:2681271	OMIM:280000|ORPHA:247262|ORPHA:3474	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome|Hyperphosphatasia-Intellectual Disability Syndrome|Chime Syndrome	yes	yes	yes	yes	15.435
PIGM	HGNC:18858	MGI:1914806	OMIM:610293|ORPHA:83639	Glycosylphosphatidylinositol Biosynthesis Defect 1|Hypercoagulability Syndrome Due To Glycosylphosphatidylinositol Deficiency	yes	yes	yes	no	NA
PIGN	HGNC:8967	MGI:1351629	OMIM:614080|ORPHA:2059|ORPHA:280633	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1|Fryns Syndrome|Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	yes	yes	yes	yes	35.905
PIGO	HGNC:23215	MGI:1861452	OMIM:614749|ORPHA:247262	Hyperphosphatasia With Impaired Intellectual Development Syndrome 2|Hyperphosphatasia-Intellectual Disability Syndrome	yes	yes	yes	yes	14.595
PIGP	HGNC:3046	MGI:1860433	OMIM:617599|ORPHA:1934	Developmental And Epileptic Encephalopathy 55|Early Infantile Epileptic Encephalopathy	no	no	no	no	NA
PIGQ	HGNC:14135	MGI:1333114	OMIM:618548|ORPHA:1934	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4|Early Infantile Epileptic Encephalopathy	yes	yes	yes	yes	28.695
PIGR	HGNC:8968	MGI:103080	-	-	no	no	no	no	NA
PIGS	HGNC:14937	MGI:2687325	OMIM:618143	Developmental And Epileptic Encephalopathy 95	no	no	no	no	NA
PIGT	HGNC:14938	MGI:1926178	OMIM:615399|OMIM:615398|ORPHA:369837	Paroxysmal Nocturnal Hemoglobinuria 2|Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3|Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	no	no	no	no	NA
PIGU	HGNC:15791	MGI:3039607	OMIM:618590	Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	yes	yes	yes	yes	41.22
PIGV	HGNC:26031	MGI:2442480	OMIM:239300|ORPHA:247262	Hyperphosphatasia With Impaired Intellectual Development Syndrome 1|Hyperphosphatasia-Intellectual Disability Syndrome	no	no	no	no	NA
PIGW	HGNC:23213	MGI:1917575	OMIM:616025|ORPHA:247262|ORPHA:83639	Glycosylphosphatidylinositol Biosynthesis Defect 11|Hyperphosphatasia-Intellectual Disability Syndrome|Hypercoagulability Syndrome Due To Glycosylphosphatidylinositol Deficiency	no	no	no	no	NA
PIGX	HGNC:26046	MGI:1919334	-	-	yes	no	no	no	NA
PIGY	HGNC:28213	MGI:1913518	OMIM:616809|ORPHA:247262	Hyperphosphatasia With Impaired Intellectual Development Syndrome 6|Hyperphosphatasia-Intellectual Disability Syndrome	no	no	no	no	NA
PIGZ	HGNC:30596	MGI:2443822	-	-	yes	no	no	no	NA
PIH1D1	HGNC:26075	MGI:1916095	-	-	no	no	no	no	NA
PIH1D2	HGNC:25210	MGI:1919864	-	-	no	no	no	no	NA
PIK3AP1	HGNC:30034	MGI:1933177	-	-	yes	no	no	no	NA
PIK3C2A	HGNC:8971	MGI:1203729	OMIM:618440|ORPHA:557003	Oculoskeletodental Syndrome	yes	yes	yes	yes	25.38
PIK3C2B	HGNC:8972	MGI:2685045	-	-	no	no	no	no	NA
PIK3C2G	HGNC:8973	MGI:1203730	-	-	no	no	no	no	NA
PIK3C3	HGNC:8974	MGI:2445019	-	-	yes	no	no	no	NA
PIK3CA	HGNC:8975	MGI:1206581	OMIM:211980|OMIM:114480|OMIM:613089|OMIM:612918|OMIM:619538|OMIM:114500|OMIM:615108|OMIM:162900|OMIM:613659|OMIM:114550|OMIM:182000|OMIM:155500|OMIM:602501|OMIM:167000|ORPHA:201|ORPHA:2495|ORPHA:140944|ORPHA:276280|ORPHA:144|ORPHA:210159|ORPHA:221061|ORPHA:314662|ORPHA:295239|ORPHA:295243|ORPHA:60040|ORPHA:99802	Lung Cancer|Breast Cancer|Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth|Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi|Cerebral Cavernous Malformations 4|Colorectal Cancer|Cowden Syndrome 5|Nevus, Epidermal|Gastric Cancer|Hepatocellular Carcinoma|Keratosis, Seborrheic|Macrodactyly|Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome|Ovarian Cancer|Cowden Syndrome|Meningioma|Cloves Syndrome|Hemihyperplasia-Multiple Lipomatosis Syndrome|Lynch Syndrome|Adult Hepatocellular Carcinoma|Familial Cerebral Cavernous Malformation|Segmental Progressive Overgrowth Syndrome With Fibroadipose Hyperplasia|Macrodactyly Of Fingers, Unilateral|Macrodactyly Of Toes, Unilateral|Hemimegalencephaly	no	no	no	no	NA
PIK3CB	HGNC:8976	MGI:1922019	-	-	yes	no	no	no	NA
PIK3CD	HGNC:8977	MGI:1098211	OMIM:613328|OMIM:615513|OMIM:619281|ORPHA:221139|ORPHA:397596	Roifman-Chitayat Syndrome|Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant|Immunodeficiency 14B, Autosomal Recessive|Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies|Activated Pi3K-Delta Syndrome	no	no	no	no	NA
PIK3CG	HGNC:8978	MGI:1353576	OMIM:619802	Immunodeficiency 97 With Autoinflammation	yes	yes	yes	yes	20.09
PIK3IP1	HGNC:24942	MGI:1917016	-	-	no	no	no	no	NA
PIK3R1	HGNC:8979	MGI:97583	OMIM:615214|OMIM:616005|OMIM:269880|ORPHA:3163|ORPHA:397596|ORPHA:33110	Agammaglobulinemia 7, Autosomal Recessive|Immunodeficiency 36 With Lymphoproliferation|Short Syndrome|Activated Pi3K-Delta Syndrome|Autosomal Agammaglobulinemia	no	no	no	no	NA
PIK3R2	HGNC:8980	MGI:1098772	OMIM:603387|ORPHA:83473	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1|Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	yes	yes	yes	no	NA
PIK3R3	HGNC:8981	MGI:109277	-	-	no	no	no	no	NA
PIK3R4	HGNC:8982	MGI:1922919	-	-	no	no	no	no	NA
PIK3R5	HGNC:30035	MGI:2443588	OMIM:615217|ORPHA:64753	Ataxia-Oculomotor Apraxia 3|Spinocerebellar Ataxia With Axonal Neuropathy Type 2	no	no	no	no	NA
PIK3R6	HGNC:27101	MGI:2144613	-	-	yes	no	no	no	NA
PIKFYVE	HGNC:23785	MGI:1335106	OMIM:121850|ORPHA:98970	Corneal Dystrophy, Fleck|Fleck Corneal Dystrophy	no	no	no	no	NA
PIM1	HGNC:8986	MGI:97584	-	-	no	no	no	no	NA
PIM2	HGNC:8987	MGI:97587	-	-	no	no	no	no	NA
PIM3	HGNC:19310	MGI:1355297	-	-	no	no	no	no	NA
PIMREG	HGNC:25483	MGI:1924434	-	-	yes	no	no	no	NA
PIN4	HGNC:8992	MGI:1916963	-	-	no	no	no	no	NA
PINK1	HGNC:14581	MGI:1916193	OMIM:605909|ORPHA:2828	Parkinson Disease 6, Autosomal Recessive Early-Onset|Young-Onset Parkinson Disease	yes	yes	yes	no	NA
PINLYP	HGNC:44206	MGI:3615324	-	-	no	no	no	no	NA
PINX1	HGNC:30046	MGI:1919650	-	-	no	no	no	no	NA
PIP	HGNC:8993	MGI:102696	-	-	yes	no	no	no	NA
PIP4K2A	HGNC:8997	MGI:1298206	ORPHA:585936	B-Lymphoblastic Leukemia/Lymphoma With Hyperdiploidy	no	no	no	no	NA
PIP4K2B	HGNC:8998	MGI:1934234	-	-	no	no	no	no	NA
PIP4K2C	HGNC:23786	MGI:2152214	-	-	yes	no	no	no	NA
PIP4P1	HGNC:19299	MGI:2448501	-	-	yes	no	no	no	NA
PIP4P2	HGNC:25452	MGI:1919769	-	-	no	no	no	no	NA
PIP5K1A	HGNC:8994	MGI:107929	-	-	no	no	no	no	NA
PIP5K1B	HGNC:8995	MGI:107930	-	-	no	no	no	no	NA
PIP5K1C	HGNC:8996	MGI:1298224	OMIM:611369|ORPHA:137783	Lethal Congenital Contracture Syndrome 3|Lethal Congenital Contracture Syndrome Type 3	yes	yes	yes	yes	37.84
PIP5KL1	HGNC:28711	MGI:2448520	-	-	no	no	no	no	NA
PIPOX	HGNC:17804	MGI:1197006	-	-	yes	no	no	no	NA
PIR	HGNC:30048	MGI:1916906	-	-	no	no	no	no	NA
PIRT	HGNC:37239	MGI:2443635	-	-	no	no	no	no	NA
PISD	HGNC:8999	MGI:2445114	OMIM:618889|ORPHA:589442	Liberfarb Syndrome|Short Stature-Skeletal Dysplasia-Retinal Degeneration-Intellectual Disability-Sensorineural Hearing Loss Syndrome	no	no	no	no	NA
PITHD1	HGNC:25022	MGI:1913443	-	-	no	no	no	no	NA
PITPNA	HGNC:9001	MGI:99887	-	-	yes	no	no	no	NA
PITPNB	HGNC:9002	MGI:1927542	-	-	no	no	no	no	NA
PITPNC1	HGNC:21045	MGI:1919045	-	-	yes	no	no	no	NA
PITPNM1	HGNC:9003	MGI:1197524	-	-	yes	no	no	no	NA
PITPNM2	HGNC:21044	MGI:1336192	-	-	no	no	no	no	NA
PITPNM3	HGNC:21043	MGI:2685726	OMIM:600977|ORPHA:1872	Cone-Rod Dystrophy 5|Cone Rod Dystrophy	yes	yes	yes	no	NA
PITRM1	HGNC:17663	MGI:1916867	OMIM:619405	Spinocerebellar Ataxia, Autosomal Recessive 30	yes	yes	yes	no	NA
PITX1	HGNC:9004	MGI:107374	OMIM:119800|ORPHA:1275|ORPHA:293150|ORPHA:293144|ORPHA:498494	Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly|Brachydactyly-Elbow Wrist Dysplasia Syndrome|Familial Clubfoot Due To Pitx1 Point Mutation|Familial Clubfoot Due To 5Q31 Microdeletion|Mirror-Image Polydactyly	yes	yes	yes	yes	54.605
PITX2	HGNC:9005	MGI:109340	OMIM:137600|OMIM:180500|OMIM:180550|ORPHA:708|ORPHA:782|ORPHA:334|ORPHA:91481|ORPHA:91483|ORPHA:98978	Anterior Segment Dysgenesis 4|Axenfeld-Rieger Syndrome, Type 1|Ring Dermoid Of Cornea|Peters Anomaly|Axenfeld-Rieger Syndrome|Familial Atrial Fibrillation|Rieger Anomaly|Axenfeld Anomaly	yes	yes	yes	yes	58.82
PITX3	HGNC:9006	MGI:1100498	OMIM:107250|OMIM:610623|ORPHA:162|ORPHA:98993	Anterior Segment Dysgenesis 1|Cataract 11, Multiple Types|Cataract-Glaucoma Syndrome|Early-Onset Posterior Polar Cataract	yes	yes	yes	yes	48.005
PIWIL1	HGNC:9007	MGI:1928897	-	-	no	no	no	no	NA
PIWIL2	HGNC:17644	MGI:1930036	-	-	no	no	no	no	NA
PIWIL4	HGNC:18444	MGI:3041167	-	-	no	no	no	no	NA
PJA1	HGNC:16648	MGI:1101765	-	-	yes	no	no	no	NA
PJA2	HGNC:17481	MGI:2159342	-	-	yes	no	no	no	NA
PJVK	HGNC:29502	MGI:2685847	OMIM:610220|ORPHA:90636	Deafness, Autosomal Recessive 59|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	yes	yes	yes	yes	31.635
PKD1	HGNC:9008	MGI:97603	OMIM:173900|ORPHA:730|ORPHA:88924	Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease|Autosomal Dominant Polycystic Kidney Disease|Autosomal Dominant Polycystic Kidney Disease Type 1 With Tuberous Sclerosis	yes	yes	yes	yes	20.365
PKD1L1	HGNC:18053	MGI:2156538	OMIM:617205|ORPHA:157769|ORPHA:101063	Heterotaxy, Visceral, 8, Autosomal|Situs Ambiguus|Situs Inversus Totalis	no	no	no	no	NA
PKD1L2	HGNC:21715	MGI:2664668	-	-	yes	no	no	no	NA
PKD1L3	HGNC:21716	MGI:2664670	-	-	no	no	no	no	NA
PKD2	HGNC:9009	MGI:1099818	OMIM:613095|ORPHA:730	Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease|Autosomal Dominant Polycystic Kidney Disease	no	no	no	no	NA
PKD2L1	HGNC:9011	MGI:1352448	-	-	no	no	no	no	NA
PKD2L2	HGNC:9012	MGI:1858231	-	-	yes	no	no	no	NA
PKDCC	HGNC:25123	MGI:2147077	OMIM:618821	Rhizomelic Limb Shortening With Dysmorphic Features	yes	yes	yes	yes	46.48
PKDREJ	HGNC:9015	MGI:1338786	-	-	no	no	no	no	NA
PKHD1	HGNC:9016	MGI:2155808	OMIM:263200|ORPHA:731|ORPHA:53035	Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease|Autosomal Recessive Polycystic Kidney Disease|Caroli Disease	no	no	no	no	NA
PKHD1L1	HGNC:20313	MGI:2183153	-	-	yes	no	no	no	NA
PKIA	HGNC:9017	MGI:104747	-	-	yes	no	no	no	NA
PKIB	HGNC:9018	MGI:101937	-	-	no	no	no	no	NA
PKIG	HGNC:9019	MGI:1343086	-	-	yes	no	no	no	NA
PKLR	HGNC:9020	MGI:97604	OMIM:102900|OMIM:266200|ORPHA:766	Adenosine Triphosphate, Elevated, Of Erythrocytes|Pyruvate Kinase Deficiency Of Red Cells|Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	no	no	no	no	NA
PKM	HGNC:9021	MGI:97591	-	-	yes	no	no	no	NA
PKMYT1	HGNC:29650	MGI:2137630	-	-	yes	no	no	no	NA
PKN1	HGNC:9405	MGI:108022	-	-	yes	no	no	no	NA
PKN2	HGNC:9406	MGI:109211	-	-	yes	no	no	no	NA
PKN3	HGNC:17999	MGI:2388285	-	-	yes	no	no	no	NA
PKNOX1	HGNC:9022	MGI:1201409	-	-	yes	no	no	no	NA
PKNOX2	HGNC:16714	MGI:2445415	-	-	yes	no	no	no	NA
PKP1	HGNC:9023	MGI:1328359	OMIM:604536|ORPHA:158668	Ectodermal Dysplasia/Skin Fragility Syndrome|Ectodermal Dysplasia-Skin Fragility Syndrome	no	no	no	no	NA
PKP2	HGNC:9024	MGI:1914701	OMIM:609040|ORPHA:293910|ORPHA:293899|ORPHA:293888|ORPHA:130|ORPHA:54260	Arrhythmogenic Right Ventricular Dysplasia, Familial, 9|Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form|Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form|Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form|Brugada Syndrome|Left Ventricular Noncompaction	no	no	no	no	NA
PKP3	HGNC:9025	MGI:1891830	-	-	no	no	no	no	NA
PKP4	HGNC:9026	MGI:109281	-	-	yes	no	no	no	NA
PLA1A	HGNC:17661	MGI:1934677	-	-	no	no	no	no	NA
PLA2G10	HGNC:9029	MGI:1347522	-	-	yes	no	no	no	NA
PLA2G12A	HGNC:18554	MGI:1913600	-	-	no	no	no	no	NA
PLA2G12B	HGNC:18555	MGI:1917086	-	-	no	no	no	no	NA
PLA2G15	HGNC:17163	MGI:2178076	-	-	no	no	no	no	NA
PLA2G1B	HGNC:9030	MGI:101842	-	-	no	no	no	no	NA
PLA2G2C	HGNC:9032	MGI:106638	-	-	yes	no	no	no	NA
PLA2G2D	HGNC:9033	MGI:1341796	-	-	yes	no	no	no	NA
PLA2G2E	HGNC:13414	MGI:1349660	-	-	yes	no	no	no	NA
PLA2G2F	HGNC:30040	MGI:1349661	-	-	yes	no	no	no	NA
PLA2G3	HGNC:17934	MGI:2444945	-	-	no	no	no	no	NA
PLA2G4A	HGNC:9035	MGI:1195256	OMIM:618372|ORPHA:468635|ORPHA:477787	Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets|Cryptogenic Multifocal Ulcerous Stenosing Enteritis|Cytosolic Phospholipase-A2 Alpha Deficiency Associated Bleeding Disorder	no	no	no	no	NA
PLA2G4B	HGNC:9036	MGI:2384819	-	-	yes	no	no	no	NA
PLA2G4C	HGNC:9037	MGI:1196403	-	-	no	no	no	no	NA
PLA2G4D	HGNC:30038	MGI:1925640	-	-	yes	no	no	no	NA
PLA2G4E	HGNC:24791	MGI:1919144	-	-	yes	no	no	no	NA
PLA2G4F	HGNC:27396	MGI:2685493	-	-	no	no	no	no	NA
PLA2G5	HGNC:9038	MGI:101899	OMIM:228980|ORPHA:363989	Fleck Retina, Familial Benign|Familial Benign Flecked Retina	yes	no	yes	no	NA
PLA2G6	HGNC:9039	MGI:1859152	OMIM:256600|OMIM:610217|OMIM:612953|ORPHA:199351|ORPHA:35069	Neurodegeneration With Brain Iron Accumulation 2A|Neurodegeneration With Brain Iron Accumulation 2B|Parkinson Disease 14, Autosomal Recessive|Adult-Onset Dystonia-Parkinsonism|Infantile Neuroaxonal Dystrophy	yes	yes	yes	no	NA
PLA2G7	HGNC:9040	MGI:1351327	OMIM:614278	Platelet-Activating Factor Acetylhydrolase Deficiency	yes	yes	yes	no	NA
PLA2R1	HGNC:9042	MGI:102468	-	-	no	no	no	no	NA
PLAA	HGNC:9043	MGI:104810	OMIM:617527|ORPHA:521426	Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies|Plaa-Associated Neurodevelopmental Disorder	no	no	no	no	NA
PLAAT1	HGNC:14922	MGI:1351473	-	-	no	no	no	no	NA
PLAAT3	HGNC:17825	MGI:2179715	-	-	yes	no	no	no	NA
PLAAT5	HGNC:24978	MGI:1913977	-	-	yes	no	no	no	NA
PLAC1	HGNC:9044	MGI:1926287	-	-	no	no	no	no	NA
PLAC8	HGNC:19254	MGI:2445289	-	-	yes	no	no	no	NA
PLAC8L1	HGNC:31746	MGI:1916651	-	-	no	no	no	no	NA
PLAC9	HGNC:19255	MGI:2663998	-	-	yes	no	no	no	NA
PLAG1	HGNC:9045	MGI:1891916	OMIM:181030|OMIM:618907|ORPHA:454821|ORPHA:397590	Salivary Gland Adenoma, Pleomorphic|Silver-Russell Syndrome 4|Pleomorphic Salivary Gland Adenoma|Silver-Russell Syndrome Due To A Point Mutation	yes	yes	yes	yes	27.13
PLAGL1	HGNC:9046	MGI:1100874	ORPHA:96191|ORPHA:99886	Paternal Uniparental Disomy Of Chromosome 6|Transient Neonatal Diabetes Mellitus	no	no	no	no	NA
PLAGL2	HGNC:9047	MGI:1933165	-	-	no	no	no	no	NA
PLAT	HGNC:9051	MGI:97610	ORPHA:480528|ORPHA:64738	Lethal Hydranencephaly-Diaphragmatic Hernia Syndrome|Non Rare In Europe: Non Rare Thrombophilia	yes	yes	no	no	NA
PLAU	HGNC:9052	MGI:97611	OMIM:104300|OMIM:601709|ORPHA:220436	Alzheimer Disease, Familial, 1|Quebec Platelet Disorder	yes	yes	yes	yes	31.905
PLAUR	HGNC:9053	MGI:97612	-	-	yes	no	no	no	NA
PLB1	HGNC:30041	MGI:1922406	-	-	yes	no	no	no	NA
PLBD1	HGNC:26215	MGI:1914107	-	-	yes	no	no	no	NA
PLBD2	HGNC:27283	MGI:1919022	-	-	yes	no	no	no	NA
PLCB1	HGNC:15917	MGI:97613	OMIM:613722|ORPHA:3451|ORPHA:293181	Developmental And Epileptic Encephalopathy 12|Infantile Spasms Syndrome|Malignant Migrating Focal Seizures Of Infancy	yes	yes	yes	yes	18.615
PLCB2	HGNC:9055	MGI:107465	-	-	yes	no	no	no	NA
PLCB3	HGNC:9056	MGI:104778	OMIM:618961|ORPHA:589435	Spondylometaphyseal Dysplasia With Corneal Dystrophy|Spondylometaphyseal Dysplasia-Corneal Dystrophy Syndrome	no	no	no	no	NA
PLCB4	HGNC:9059	MGI:107464	OMIM:614669|OMIM:620458|ORPHA:137888	Auriculocondylar Syndrome 2A|Auriculocondylar Syndrome 2B|Auriculocondylar Syndrome	yes	yes	yes	yes	23.325
PLCD1	HGNC:9060	MGI:97614	OMIM:151600|ORPHA:2387	Nail Disorder, Nonsyndromic Congenital, 3|Leukonychia Totalis	no	no	no	no	NA
PLCD3	HGNC:9061	MGI:107451	-	-	no	no	no	no	NA
PLCD4	HGNC:9062	MGI:107469	-	-	yes	no	no	no	NA
PLCE1	HGNC:17175	MGI:1921305	OMIM:610725|ORPHA:656	Nephrotic Syndrome, Type 3|Genetic Steroid-Resistant Nephrotic Syndrome	yes	yes	yes	yes	18.025
PLCG1	HGNC:9065	MGI:97615	OMIM:620514	Immune Dysregulation, Autoimmunity, And Autoinflammation	no	no	no	no	NA
PLCG2	HGNC:9066	MGI:97616	OMIM:614878|OMIM:614468|ORPHA:324530|ORPHA:300359	Autoinflammation, Antibody Deficiency, And Immune Dysregulation|Familial Cold Autoinflammatory Syndrome 3|Autoinflammation-Plcg2-Associated Antibody Deficiency-Immune Dysregulation|Plcg2-Associated Antibody Deficiency And Immune Dysregulation	yes	yes	yes	yes	53.945
PLCH1	HGNC:29185	MGI:2683547	OMIM:619895|ORPHA:93925	Holoprosencephaly 14|Alobar Holoprosencephaly	no	no	no	no	NA
PLCH2	HGNC:29037	MGI:2443078	-	-	no	no	no	no	NA
PLCL1	HGNC:9063	MGI:3036262	-	-	no	no	no	no	NA
PLCL2	HGNC:9064	MGI:1352756	-	-	no	no	no	no	NA
PLCXD1	HGNC:23148	MGI:2685422	-	-	no	no	no	no	NA
PLCXD2	HGNC:26462	MGI:3647874	-	-	no	no	no	no	NA
PLCXD3	HGNC:31822	MGI:2442605	-	-	no	no	no	no	NA
PLCZ1	HGNC:19218	MGI:2150308	OMIM:617214	Spermatogenic Failure 17	yes	yes	yes	no	NA
PLD1	HGNC:9067	MGI:109585	OMIM:212093	Cardiac Valvular Dysplasia 1	yes	yes	yes	yes	27.655
PLD2	HGNC:9068	MGI:892877	-	-	no	no	no	no	NA
PLD3	HGNC:17158	MGI:1333782	OMIM:617770|ORPHA:589522	Spinocerebellar Ataxia 46|Spinocerebellar Ataxia Type 46	yes	yes	yes	no	NA
PLD4	HGNC:23792	MGI:2144765	-	-	yes	no	no	no	NA
PLD5	HGNC:26879	MGI:2442056	-	-	yes	no	no	no	NA
PLD6	HGNC:30447	MGI:2687283	-	-	no	no	no	no	NA
PLEC	HGNC:9069	MGI:1277961	OMIM:616487|OMIM:131950|OMIM:226670|OMIM:612138|OMIM:613723|ORPHA:158684|ORPHA:254361|ORPHA:1114|ORPHA:257|ORPHA:79401	Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive|Epidermolysis Bullosa Simplex 5A, Ogna Type|Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy|Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia|Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17|Epidermolysis Bullosa Simplex With Pyloric Atresia|Plectin-Related Limb-Girdle Muscular Dystrophy R17|Aplasia Cutis Congenita|Epidermolysis Bullosa Simplex With Muscular Dystrophy|Plec-Related Intermediate Epidermolysis Bullosa Simplex Without Extracutaneous Involvement	yes	yes	yes	yes	36.06
PLEK	HGNC:9070	MGI:1860485	-	-	no	no	no	no	NA
PLEK2	HGNC:19238	MGI:1351466	-	-	yes	no	no	no	NA
PLEKHA1	HGNC:14335	MGI:2442213	-	-	yes	no	no	no	NA
PLEKHA2	HGNC:14336	MGI:1928144	-	-	no	no	no	no	NA
PLEKHA3	HGNC:14338	MGI:1932515	-	-	yes	no	no	no	NA
PLEKHA4	HGNC:14339	MGI:1916467	-	-	no	no	no	no	NA
PLEKHA5	HGNC:30036	MGI:1923802	-	-	yes	no	no	no	NA
PLEKHA6	HGNC:17053	MGI:2388662	-	-	no	no	no	no	NA
PLEKHA7	HGNC:27049	MGI:2445094	-	-	no	no	no	no	NA
PLEKHA8	HGNC:30037	MGI:2681164	-	-	yes	no	no	no	NA
PLEKHB1	HGNC:19079	MGI:1351469	-	-	no	no	no	no	NA
PLEKHB2	HGNC:19236	MGI:2385825	-	-	no	no	no	no	NA
PLEKHD1	HGNC:20148	MGI:3036228	-	-	yes	no	no	no	NA
PLEKHF1	HGNC:20764	MGI:1919537	-	-	yes	no	no	no	NA
PLEKHF2	HGNC:20757	MGI:1919051	-	-	yes	no	no	no	NA
PLEKHG1	HGNC:20884	MGI:2676551	-	-	yes	no	no	no	NA
PLEKHG2	HGNC:29515	MGI:2141874	OMIM:616763	Leukodystrophy And Acquired Microcephaly With Or Without Dystonia	yes	yes	yes	no	NA
PLEKHG3	HGNC:20364	MGI:2388284	-	-	yes	no	no	no	NA
PLEKHG4	HGNC:24501	MGI:2142544	ORPHA:98765	Spinocerebellar Ataxia Type 4	no	no	no	no	NA
PLEKHG5	HGNC:29105	MGI:2652860	OMIM:615376|OMIM:611067|ORPHA:206580|ORPHA:369867	Charcot-Marie-Tooth Disease, Recessive Intermediate C|Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4|Autosomal Recessive Lower Motor Neuron Disease With Childhood Onset|Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type C	no	no	no	no	NA
PLEKHG6	HGNC:25562	MGI:2682298	-	-	no	no	no	no	NA
PLEKHH1	HGNC:17733	MGI:2144989	-	-	yes	no	no	no	NA
PLEKHH2	HGNC:30506	MGI:2146813	-	-	yes	no	no	no	NA
PLEKHH3	HGNC:26105	MGI:2384950	-	-	no	no	no	no	NA
PLEKHJ1	HGNC:18211	MGI:1925920	-	-	yes	no	no	no	NA
PLEKHM1	HGNC:29017	MGI:2443207	OMIM:611497|OMIM:618107|ORPHA:210110	Osteopetrosis, Autosomal Recessive 6|Osteopetrosis, Autosomal Dominant 3|Intermediate Osteopetrosis	yes	yes	yes	yes	65.225
PLEKHM2	HGNC:29131	MGI:1916832	ORPHA:54260	Left Ventricular Noncompaction	yes	yes	no	no	NA
PLEKHM3	HGNC:34006	MGI:2443627	-	-	no	no	no	no	NA
PLEKHN1	HGNC:25284	MGI:2387630	-	-	no	no	no	no	NA
PLEKHO1	HGNC:24310	MGI:1914470	-	-	no	no	no	no	NA
PLEKHO2	HGNC:30026	MGI:2143132	-	-	yes	no	no	no	NA
PLEKHS1	HGNC:26285	MGI:2443041	-	-	no	no	no	no	NA
PLET1	HGNC:30053	MGI:1923759	-	-	yes	no	no	no	NA
PLG	HGNC:9071	MGI:97620	OMIM:619360|OMIM:217090|ORPHA:722|ORPHA:537072	Angioedema, Hereditary, 4|Plasminogen Deficiency, Type I|Hypoplasminogenemia|Plg-Related Hereditary Angioedema With Normal C1Inh	no	no	no	no	NA
PLGRKT	HGNC:23633	MGI:1915009	-	-	no	no	no	no	NA
PLIN1	HGNC:9076	MGI:1890505	OMIM:613877|ORPHA:280356	Lipodystrophy, Familial Partial, Type 4|Plin1-Related Familial Partial Lipodystrophy	no	no	no	no	NA
PLIN2	HGNC:248	MGI:87920	-	-	yes	no	no	no	NA
PLIN3	HGNC:16893	MGI:1914155	-	-	no	no	no	no	NA
PLIN4	HGNC:29393	MGI:1929709	OMIM:601846	Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant	yes	yes	yes	yes	23.37
PLIN5	HGNC:33196	MGI:1914218	-	-	no	no	no	no	NA
PLK1	HGNC:9077	MGI:97621	-	-	yes	no	no	no	NA
PLK2	HGNC:19699	MGI:1099790	-	-	no	no	no	no	NA
PLK3	HGNC:2154	MGI:109604	-	-	no	no	no	no	NA
PLK4	HGNC:11397	MGI:101783	OMIM:616171|ORPHA:808|ORPHA:2518	Microcephaly And Chorioretinopathy, Autosomal Recessive, 2|Seckel Syndrome|Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	no	no	no	no	NA
PLK5	HGNC:27001	MGI:3026984	-	-	yes	no	no	no	NA
PLLP	HGNC:18553	MGI:1915051	-	-	yes	no	no	no	NA
PLN	HGNC:9080	MGI:97622	OMIM:609909|OMIM:613874|ORPHA:154|ORPHA:155	Cardiomyopathy, Dilated, 1P|Cardiomyopathy, Familial Hypertrophic, 18|Familial Isolated Dilated Cardiomyopathy|Non Rare In Europe: Familial Isolated Hypertrophic Cardiomyopathy	no	no	no	no	NA
PLOD1	HGNC:9081	MGI:99907	OMIM:225400|ORPHA:1900	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1|Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	yes	yes	yes	no	NA
PLOD2	HGNC:9082	MGI:1347007	OMIM:609220|ORPHA:2771	Bruck Syndrome 2|Bruck Syndrome	yes	yes	yes	yes	16.365
PLOD3	HGNC:9083	MGI:1347008	OMIM:612394|ORPHA:300284	Bone Fragility With Contractures, Arterial Rupture, And Deafness|Connective Tissue Disorder Due To Lysyl Hydroxylase-3 Deficiency	yes	yes	yes	yes	31.605
PLP1	HGNC:9086	MGI:97623	OMIM:312080|OMIM:312920|ORPHA:280210|ORPHA:280219|ORPHA:280234|ORPHA:280224|ORPHA:280229|ORPHA:599376|ORPHA:99015	Pelizaeus-Merzbacher Disease|Spastic Paraplegia 2, X-Linked|Pelizaeus-Merzbacher Disease, Connatal Form|Pelizaeus-Merzbacher Disease, Classic Form|Null Syndrome|Pelizaeus-Merzbacher Disease, Transitional Form|Pelizaeus-Merzbacher Disease In Female Carriers|Hypomyelination Of Early Myelinating Structures|Spastic Paraplegia Type 2	no	no	no	no	NA
PLPBP	HGNC:9457	MGI:1891207	OMIM:617290|ORPHA:3006	Epilepsy, Early-Onset, 1, Vitamin B6-Dependent|Pyridoxine-Dependent Epilepsy	no	no	no	no	NA
PLPP1	HGNC:9228	MGI:108412	-	-	no	no	no	no	NA
PLPP2	HGNC:9230	MGI:1354945	-	-	no	no	no	no	NA
PLPP3	HGNC:9229	MGI:1915166	-	-	yes	no	no	no	NA
PLPP4	HGNC:23531	MGI:2685936	-	-	yes	no	no	no	NA
PLPP5	HGNC:25026	MGI:1919160	-	-	no	no	no	no	NA
PLPP6	HGNC:23682	MGI:1921661	-	-	yes	no	no	no	NA
PLPP7	HGNC:28174	MGI:2445183	-	-	no	no	no	no	NA
PLPPR1	HGNC:25993	MGI:2445015	-	-	no	no	no	no	NA
PLPPR2	HGNC:29566	MGI:2384575	-	-	no	no	no	no	NA
PLPPR3	HGNC:23497	MGI:2388640	-	-	no	no	no	no	NA
PLPPR4	HGNC:23496	MGI:106530	-	-	no	no	no	no	NA
PLPPR5	HGNC:31703	MGI:1923019	-	-	yes	no	no	no	NA
PLRG1	HGNC:9089	MGI:1858197	-	-	no	no	no	no	NA
PLS1	HGNC:9090	MGI:104809	OMIM:618787|ORPHA:90635	Deafness, Autosomal Dominant 76|Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	no	no	no	no	NA
PLS3	HGNC:9091	MGI:104807	OMIM:300910|ORPHA:391330	Bone Mineral Density Quantitative Trait Locus 18|X-Linked Osteoporosis With Fractures	yes	yes	yes	no	NA
PLSCR3	HGNC:16495	MGI:1917560	-	-	yes	no	no	no	NA
PLSCR4	HGNC:16497	MGI:2143267	-	-	no	no	no	no	NA
PLSCR5	HGNC:19952	MGI:3779462	-	-	yes	no	no	no	NA
PLTP	HGNC:9093	MGI:103151	-	-	no	no	no	no	NA
PLVAP	HGNC:13635	MGI:1890497	OMIM:618183|ORPHA:329242	Diarrhea 10, Protein-Losing Enteropathy Type|Congenital Chronic Diarrhea With Protein-Losing Enteropathy	no	no	no	no	NA
PLXDC1	HGNC:20945	MGI:1919574	-	-	no	no	no	no	NA
PLXDC2	HGNC:21013	MGI:1914698	-	-	no	no	no	no	NA
PLXNA1	HGNC:9099	MGI:107685	OMIM:619955|ORPHA:528084	Dworschak-Punetha Neurodevelopmental Syndrome|Non-Specific Syndromic Intellectual Disability	no	no	no	no	NA
PLXNA2	HGNC:9100	MGI:107684	-	-	yes	no	no	no	NA
PLXNA3	HGNC:9101	MGI:107683	-	-	no	no	no	no	NA
PLXNA4	HGNC:9102	MGI:2179061	-	-	yes	no	no	no	NA
PLXNB1	HGNC:9103	MGI:2154238	-	-	yes	no	no	no	NA
PLXNB2	HGNC:9104	MGI:2154239	-	-	yes	no	no	no	NA
PLXNB3	HGNC:9105	MGI:2154240	-	-	yes	no	no	no	NA
PLXNC1	HGNC:9106	MGI:1890127	-	-	yes	no	no	no	NA
PLXND1	HGNC:9107	MGI:2154244	OMIM:620294|ORPHA:570|ORPHA:3384	Congenital Heart Defects, Multiple Types, 9|Moebius Syndrome|Truncus Arteriosus	no	no	no	no	NA
PM20D1	HGNC:26518	MGI:2442939	-	-	yes	no	no	no	NA
PM20D2	HGNC:21408	MGI:2685270	-	-	no	no	no	no	NA
PMAIP1	HGNC:9108	MGI:1930146	-	-	no	no	no	no	NA
PMCH	HGNC:9109	MGI:97629	-	-	yes	no	no	no	NA
PMEL	HGNC:10880	MGI:98301	-	-	yes	no	no	no	NA
PMEPA1	HGNC:14107	MGI:1929600	-	-	yes	no	no	no	NA
PMF1	HGNC:9112	MGI:1914287	-	-	no	no	no	no	NA
PMFBP1	HGNC:17728	MGI:1930136	OMIM:618112|ORPHA:529970	Spermatogenic Failure 31|Male Infertility Due To Acephalic Spermatozoa	no	no	no	no	NA
PML	HGNC:9113	MGI:104662	ORPHA:520	Acute Promyelocytic Leukemia	yes	yes	yes	no	NA
PMM1	HGNC:9114	MGI:1353418	-	-	no	no	no	no	NA
PMM2	HGNC:9115	MGI:1859214	OMIM:212065|ORPHA:79318	Congenital Disorder Of Glycosylation, Type Ia|Pmm2-Cdg	yes	yes	yes	yes	21.28
PMP2	HGNC:9117	MGI:102667	OMIM:618279|ORPHA:476394	Charcot-Marie-Tooth Disease, Demyelinating, Type 1G|Pmp2-Related Charcot-Marie-Tooth Disease Type 1	no	no	no	no	NA
PMP22	HGNC:9118	MGI:97631	OMIM:139393|OMIM:118220|OMIM:118300|OMIM:145900|OMIM:162500|OMIM:180800|ORPHA:640|ORPHA:3115|ORPHA:64748|ORPHA:90658|ORPHA:98916|ORPHA:101081	Guillain-Barre Syndrome, Familial|Charcot-Marie-Tooth Disease, Demyelinating, Type 1A|Charcot-Marie-Tooth Disease And Deafness|Hypertrophic Neuropathy Of Dejerine-Sottas|Neuropathy, Hereditary, With Liability To Pressure Palsies|Roussy-Levy Hereditary Areflexic Dystasia|Hereditary Neuropathy With Liability To Pressure Palsies|Roussy-Lévy Syndrome|Dejerine-Sottas Syndrome|Charcot-Marie-Tooth Disease Type 1E|Acute Inflammatory Demyelinating Polyradiculoneuropathy|Charcot-Marie-Tooth Disease Type 1A	no	no	no	no	NA
PMPCA	HGNC:18667	MGI:1918568	OMIM:213200|ORPHA:1170	Spinocerebellar Ataxia, Autosomal Recessive 2|Autosomal Recessive Cerebelloparenchymal Disorder Type 3	yes	yes	yes	no	NA
PMPCB	HGNC:9119	MGI:1920328	OMIM:617954|ORPHA:569290	Multiple Mitochondrial Dysfunctions Syndrome 6|Multiple Mitochondrial Dysfunctions Syndrome Type 6	yes	yes	yes	no	NA
PMS1	HGNC:9121	MGI:1202302	ORPHA:144	Lynch Syndrome	yes	yes	yes	yes	26.7
PMS2	HGNC:9122	MGI:104288	OMIM:614337|OMIM:619101|ORPHA:252202|ORPHA:144	Lynch Syndrome 4|Mismatch Repair Cancer Syndrome 4|Constitutional Mismatch Repair Deficiency Syndrome|Lynch Syndrome	no	no	no	no	NA
PMVK	HGNC:9141	MGI:1915853	OMIM:175800|ORPHA:735	Porokeratosis 1, Multiple Types|Porokeratosis Of Mibelli	no	no	no	no	NA
PNCK	HGNC:13415	MGI:1347357	-	-	yes	no	no	no	NA
PNISR	HGNC:21222	MGI:1913875	-	-	no	no	no	no	NA
PNKD	HGNC:9153	MGI:1930773	OMIM:118800|ORPHA:98810	Paroxysmal Nonkinesigenic Dyskinesia 1|Paroxysmal Non-Kinesigenic Dyskinesia	yes	no	yes	no	NA
PNKP	HGNC:9154	MGI:1891698	OMIM:605589|OMIM:616267|OMIM:613402|ORPHA:1934|ORPHA:459033|ORPHA:101101	Charcot-Marie-Tooth Disease, Axonal, Type 2B2|Ataxia-Oculomotor Apraxia 4|Microcephaly, Seizures, And Developmental Delay|Early Infantile Epileptic Encephalopathy|Ataxia-Oculomotor Apraxia Type 4|Charcot-Marie-Tooth Disease Type 2B2	yes	yes	yes	yes	23.98
PNLDC1	HGNC:21185	MGI:2685159	OMIM:619528|ORPHA:399805	Spermatogenic Failure 57|Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	yes	yes	yes	yes	76.595
PNLIP	HGNC:9155	MGI:97722	OMIM:614338	Pancreatic Lipase Deficiency	no	no	no	no	NA
PNLIPRP1	HGNC:9156	MGI:97723	-	-	no	no	no	no	NA
PNLIPRP2	HGNC:9157	MGI:1336202	-	-	no	no	no	no	NA
PNMA1	HGNC:9158	MGI:2180564	-	-	yes	no	no	no	NA
PNMA2	HGNC:9159	MGI:2444129	-	-	yes	no	no	no	NA
PNMA3	HGNC:18742	MGI:2180565	-	-	yes	no	no	no	NA
PNMA5	HGNC:18743	MGI:2180566	-	-	no	no	no	no	NA
PNMA8A	HGNC:25578	MGI:1918941	-	-	no	no	no	no	NA
PNMA8B	HGNC:29206	MGI:3645856	-	-	no	no	no	no	NA
PNMT	HGNC:9160	MGI:97724	ORPHA:243761	Non Rare In Europe: Essential Hypertension	yes	yes	no	no	NA
PNN	HGNC:9162	MGI:1100514	-	-	yes	no	no	no	NA
PNO1	HGNC:32790	MGI:1913499	-	-	no	no	no	no	NA
PNOC	HGNC:9163	MGI:105308	-	-	no	no	no	no	NA
PNPLA1	HGNC:21246	MGI:3617850	OMIM:615024|ORPHA:79394	Ichthyosis, Congenital, Autosomal Recessive 10|Congenital Ichthyosiform Erythroderma	yes	yes	yes	no	NA
PNPLA2	HGNC:30802	MGI:1914103	OMIM:610717|ORPHA:565612|ORPHA:98908	Neutral Lipid Storage Disease With Myopathy|Primary Triglyceride Deposit Cardiomyovasculopathy|Neutral Lipid Storage Myopathy	no	no	no	no	NA
PNPLA3	HGNC:18590	MGI:2151796	ORPHA:33271	Non Rare In Europe: Non-Alcoholic Fatty Liver Disease	no	no	no	no	NA
PNPLA5	HGNC:24888	MGI:1923022	-	-	yes	no	no	no	NA
PNPLA6	HGNC:16268	MGI:1354723	OMIM:245800|OMIM:215470|OMIM:275400|OMIM:612020|ORPHA:2377|ORPHA:1180|ORPHA:1173|ORPHA:139480|ORPHA:3363	Laurence-Moon Syndrome|Boucher-Neuhauser Syndrome|Oliver-Mcfarlane Syndrome|Spastic Paraplegia 39, Autosomal Recessive|Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome|Cerebellar Ataxia-Hypogonadism Syndrome|Autosomal Recessive Spastic Paraplegia Type 39|Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	no	no	no	no	NA
PNPLA7	HGNC:24768	MGI:2385325	-	-	no	no	no	no	NA
PNPLA8	HGNC:28900	MGI:1914702	OMIM:251950	Mitochondrial Myopathy With Lactic Acidosis	no	no	no	no	NA
PNPO	HGNC:30260	MGI:2144151	OMIM:610090|ORPHA:79096	Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency|Pyridoxal Phosphate-Responsive Seizures	yes	no	yes	no	NA
PNPT1	HGNC:23166	MGI:1918951	OMIM:614932|OMIM:614934|OMIM:608703|ORPHA:319514|ORPHA:90636|ORPHA:101111	Combined Oxidative Phosphorylation Deficiency 13|Deafness, Autosomal Recessive 70, With Or Without Adult-Onset Neurodegeneration|Spinocerebellar Ataxia 25|Combined Oxidative Phosphorylation Defect Type 13|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb|Spinocerebellar Ataxia Type 25	yes	yes	yes	yes	38.915
PNRC1	HGNC:17278	MGI:1917838	-	-	no	no	no	no	NA
PNRC2	HGNC:23158	MGI:106512	-	-	no	no	no	no	NA
POC1A	HGNC:24488	MGI:1917485	OMIM:614813|ORPHA:314394	Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis|Short Stature-Onychodysplasia-Facial Dysmorphism-Hypotrichosis Syndrome	yes	yes	yes	yes	23.975
POC1B	HGNC:30836	MGI:1918511	OMIM:615973|ORPHA:1872	Cone-Rod Dystrophy 20|Cone Rod Dystrophy	yes	yes	yes	no	NA
POC5	HGNC:26658	MGI:1914713	-	-	yes	no	no	no	NA
PODN	HGNC:23174	MGI:2674939	-	-	yes	no	no	no	NA
PODNL1	HGNC:26275	MGI:2685352	-	-	no	no	no	no	NA
PODXL	HGNC:9171	MGI:1351317	ORPHA:2828|ORPHA:391411	Young-Onset Parkinson Disease|Atypical Juvenile Parkinsonism	yes	yes	yes	no	NA
PODXL2	HGNC:17936	MGI:2442488	-	-	yes	no	no	no	NA
POF1B	HGNC:13711	MGI:1916943	OMIM:300604|ORPHA:619	Premature Ovarian Failure 2B|Non Rare In Europe: Primary Ovarian Failure	yes	yes	yes	no	NA
POFUT1	HGNC:14988	MGI:2153207	OMIM:615327|ORPHA:79145	Dowling-Degos Disease 2|Dowling-Degos Disease	no	no	no	no	NA
POFUT2	HGNC:14683	MGI:1916863	-	-	no	no	no	no	NA
POGK	HGNC:18800	MGI:1918842	-	-	no	no	no	no	NA
POGLUT1	HGNC:22954	MGI:2444232	OMIM:615696|OMIM:617232|ORPHA:480682|ORPHA:79145	Dowling-Degos Disease 4|Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21|Poglut1-Related Limb-Girdle Muscular Dystrophy R21|Dowling-Degos Disease	yes	yes	yes	no	NA
POGLUT2	HGNC:19350	MGI:1919300	-	-	no	no	no	no	NA
POGLUT3	HGNC:28496	MGI:1923765	-	-	yes	no	no	no	NA
POGZ	HGNC:18801	MGI:2442117	OMIM:616364|ORPHA:468678	White-Sutton Syndrome	no	no	no	no	NA
POLA1	HGNC:9173	MGI:99660	OMIM:301220|OMIM:301030|ORPHA:163976|ORPHA:85453	Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked|Van Esch-O'Driscoll Syndrome|X-Linked Intellectual Disability, Van Esch Type|X-Linked Reticulate Pigmentary Disorder	no	no	no	no	NA
POLA2	HGNC:30073	MGI:99690	-	-	yes	no	no	no	NA
POLB	HGNC:9174	MGI:97740	-	-	yes	no	no	no	NA
POLD1	HGNC:9175	MGI:97741	OMIM:615381|OMIM:612591|ORPHA:363649|ORPHA:447877	Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome|Colorectal Cancer, Susceptibility To, 10|Mandibular Hypoplasia-Deafness-Progeroid Features-Lipodystrophy Syndrome|Polymerase Proofreading-Related Adenomatous Polyposis	no	no	no	no	NA
POLD2	HGNC:9176	MGI:1097163	-	-	yes	no	no	no	NA
POLD3	HGNC:20932	MGI:1915217	-	-	yes	no	no	no	NA
POLD4	HGNC:14106	MGI:1916995	-	-	yes	no	no	no	NA
POLDIP2	HGNC:23781	MGI:1915061	-	-	no	no	no	no	NA
POLDIP3	HGNC:23782	MGI:1921076	-	-	yes	no	no	no	NA
POLE	HGNC:9177	MGI:1196391	OMIM:615139|OMIM:618336|OMIM:615083|ORPHA:352712|ORPHA:447877|ORPHA:85173	Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature|Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency|Colorectal Cancer, Susceptibility To, 12|Facial Dysmorphism-Immunodeficiency-Livedo-Short Stature Syndrome|Polymerase Proofreading-Related Adenomatous Polyposis|Image Syndrome	no	no	no	no	NA
POLE2	HGNC:9178	MGI:1197514	-	-	yes	no	no	no	NA
POLE3	HGNC:13546	MGI:1933378	-	-	yes	no	no	no	NA
POLE4	HGNC:18755	MGI:1914229	-	-	no	no	no	no	NA
POLG	HGNC:9179	MGI:1196389	OMIM:203700|OMIM:613662|OMIM:607459|OMIM:157640|OMIM:258450|ORPHA:726|ORPHA:254886|ORPHA:254881|ORPHA:254892|ORPHA:402082|ORPHA:298|ORPHA:70595|ORPHA:94125	Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)|Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)|Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis|Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1|Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1|Alpers-Huttenlocher Syndrome|Autosomal Recessive Progressive External Ophthalmoplegia|Spinocerebellar Ataxia With Epilepsy|Autosomal Dominant Progressive External Ophthalmoplegia|Progressive Myoclonic Epilepsy Type 5|Mitochondrial Neurogastrointestinal Encephalomyopathy|Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome|Recessive Mitochondrial Ataxia Syndrome	no	no	no	no	NA
POLG2	HGNC:9180	MGI:1354947	OMIM:618528|OMIM:619425|OMIM:610131|ORPHA:254892	Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)|Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)|Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4|Autosomal Dominant Progressive External Ophthalmoplegia	yes	yes	yes	no	NA
POLH	HGNC:9181	MGI:1891457	OMIM:278750|ORPHA:90342	Xeroderma Pigmentosum, Variant Type|Xeroderma Pigmentosum Variant	no	no	no	no	NA
POLI	HGNC:9182	MGI:1347081	-	-	yes	no	no	no	NA
POLK	HGNC:9183	MGI:1349767	-	-	no	no	no	no	NA
POLL	HGNC:9184	MGI:1889000	-	-	no	no	no	no	NA
POLM	HGNC:9185	MGI:1860191	-	-	yes	no	no	no	NA
POLN	HGNC:18870	MGI:2675617	-	-	yes	no	no	no	NA
POLQ	HGNC:9186	MGI:2155399	-	-	yes	no	no	no	NA
POLR1A	HGNC:17264	MGI:1096397	OMIM:616462|ORPHA:1200	Acrofacial Dysostosis, Cincinnati Type|Burn-Mckeown Syndrome	yes	yes	yes	no	NA
POLR1B	HGNC:20454	MGI:108014	OMIM:618939|ORPHA:861	Treacher Collins Syndrome 4|Treacher-Collins Syndrome	yes	yes	yes	yes	43.74
POLR1C	HGNC:20194	MGI:103288	OMIM:616494|OMIM:248390|ORPHA:861|ORPHA:88637	Leukodystrophy, Hypomyelinating, 11|Treacher Collins Syndrome 3|Treacher-Collins Syndrome|Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome	yes	yes	yes	yes	36.505
POLR1D	HGNC:20422	MGI:108403	OMIM:613717|ORPHA:861	Treacher Collins Syndrome 2|Treacher-Collins Syndrome	yes	yes	yes	no	NA
POLR1E	HGNC:17631	MGI:1929022	-	-	yes	no	no	no	NA
POLR1F	HGNC:18027	MGI:106292	-	-	no	no	no	no	NA
POLR1G	HGNC:24219	MGI:1917583	-	-	yes	no	no	no	NA
POLR1H	HGNC:13182	MGI:1913386	-	-	no	no	no	no	NA
POLR2A	HGNC:9187	MGI:98086	OMIM:618603	Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	no	no	no	no	NA
POLR2B	HGNC:9188	MGI:2388280	-	-	yes	no	no	no	NA
POLR2C	HGNC:9189	MGI:109299	-	-	no	no	no	no	NA
POLR2D	HGNC:9191	MGI:1916491	-	-	no	no	no	no	NA
POLR2E	HGNC:9192	MGI:1913670	-	-	no	no	no	no	NA
POLR2F	HGNC:9193	MGI:1349393	-	-	yes	no	no	no	NA
POLR2G	HGNC:9194	MGI:1914960	-	-	yes	no	no	no	NA
POLR2H	HGNC:9195	MGI:2384309	-	-	yes	no	no	no	NA
POLR2I	HGNC:9196	MGI:1917170	-	-	no	no	no	no	NA
POLR2K	HGNC:9198	MGI:102725	-	-	no	no	no	no	NA
POLR2L	HGNC:9199	MGI:1913741	-	-	yes	no	no	no	NA
POLR2M	HGNC:14862	MGI:107282	-	-	no	no	no	no	NA
POLR3A	HGNC:30074	MGI:2681836	OMIM:607694|OMIM:264090|ORPHA:137639|ORPHA:3455|ORPHA:447896|ORPHA:447893|ORPHA:77295|ORPHA:88637	Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism|Wiedemann-Rautenstrauch Syndrome|Hypomyelinating Leukodystrophy-Ataxia-Hypodontia-Hypomyelination Syndrome|Tremor-Ataxia-Central Hypomyelination Syndrome|Hypomyelination-Cerebellar Atrophy-Hypoplasia Of The Corpus Callosum Syndrome|Odontoleukodystrophy|Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome	yes	yes	yes	yes	23.34
POLR3B	HGNC:30348	MGI:1917678	OMIM:619742|OMIM:614381|ORPHA:88637|ORPHA:85186	Charcot-Marie-Tooth Disease, Demyelinating, Type 1I|Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism|Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome|Endosteal Sclerosis-Cerebellar Hypoplasia Syndrome	yes	yes	yes	no	NA
POLR3C	HGNC:30076	MGI:1921664	-	-	no	no	no	no	NA
POLR3D	HGNC:1080	MGI:1914315	-	-	yes	no	no	no	NA
POLR3E	HGNC:30347	MGI:1349452	-	-	no	no	no	no	NA
POLR3F	HGNC:15763	MGI:1924086	OMIM:619872	Immunodeficiency 101 (Varicella Zoster Virus-Specific)	yes	yes	yes	no	NA
POLR3G	HGNC:30075	MGI:1914736	-	-	yes	no	no	no	NA
POLR3GL	HGNC:28466	MGI:1917120	OMIM:619234	Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	yes	yes	yes	yes	12.15
POLR3H	HGNC:30349	MGI:1926179	ORPHA:243	46,Xx Gonadal Dysgenesis	no	no	no	no	NA
POLR3K	HGNC:14121	MGI:1914255	OMIM:619310	Leukodystrophy, Hypomyelinating, 21	no	no	no	no	NA
POLRMT	HGNC:9200	MGI:1915843	OMIM:619743	Combined Oxidative Phosphorylation Deficiency 55	yes	yes	yes	yes	28.795
POM121L2	HGNC:13973	MGI:2684870	-	-	yes	no	no	no	NA
POMC	HGNC:9201	MGI:97742	OMIM:609734|OMIM:601665|ORPHA:71526	Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair|Obesity|Obesity Due To Pro-Opiomelanocortin Deficiency	yes	yes	yes	yes	29.665
POMGNT1	HGNC:19139	MGI:1915523	OMIM:253280|OMIM:613151|OMIM:613157|OMIM:617123|ORPHA:791|ORPHA:206564|ORPHA:370959|ORPHA:588|ORPHA:899	Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3|Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3|Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3|Retinitis Pigmentosa 76|Retinitis Pigmentosa|Pomgnt1-Related Limb-Girdle Muscular Dystrophy R15|Congenital Muscular Dystrophy With Cerebellar Involvement|Muscle-Eye-Brain Disease|Walker-Warburg Syndrome	no	no	no	no	NA
POMGNT2	HGNC:25902	MGI:2143424	OMIM:614830|OMIM:618135|ORPHA:899	Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8|Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 8|Walker-Warburg Syndrome	no	no	no	no	NA
POMK	HGNC:26267	MGI:1921903	OMIM:616094|OMIM:615249|ORPHA:370959|ORPHA:445110|ORPHA:899	Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12|Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12|Congenital Muscular Dystrophy With Cerebellar Involvement|Limb-Girdle Muscular Dystrophy Due To Pomk Deficiency|Walker-Warburg Syndrome	yes	yes	yes	yes	18.96
POMP	HGNC:20330	MGI:1913787	OMIM:601952|OMIM:618048|ORPHA:281201	Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma|Proteasome-Associated Autoinflammatory Syndrome 2|Keratosis Linearis-Ichthyosis Congenita-Sclerosing Keratoderma Syndrome	no	no	no	no	NA
POMT1	HGNC:9202	MGI:2138994	OMIM:236670|OMIM:613155|OMIM:609308|ORPHA:370959|ORPHA:370968|ORPHA:370980|ORPHA:588|ORPHA:899|ORPHA:86812	Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1|Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1|Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1|Congenital Muscular Dystrophy With Cerebellar Involvement|Congenital Muscular Dystrophy With Intellectual Disability|Congenital Muscular Dystrophy Without Intellectual Disability|Muscle-Eye-Brain Disease|Walker-Warburg Syndrome|Pomt1-Related Limb-Girdle Muscular Dystrophy R11	no	no	no	no	NA
POMT2	HGNC:19743	MGI:2444430	OMIM:613150|OMIM:613156|OMIM:613158|ORPHA:206559|ORPHA:370959|ORPHA:370968|ORPHA:588|ORPHA:899	Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2|Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2|Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2|Pomt2-Related Limb-Girdle Muscular Dystrophy R14|Congenital Muscular Dystrophy With Cerebellar Involvement|Congenital Muscular Dystrophy With Intellectual Disability|Muscle-Eye-Brain Disease|Walker-Warburg Syndrome	no	no	no	no	NA
PON1	HGNC:9204	MGI:103295	OMIM:612633|ORPHA:803	Microvascular Complications Of Diabetes, Susceptibility To, 5|Amyotrophic Lateral Sclerosis	no	no	no	no	NA
PON2	HGNC:9205	MGI:106687	ORPHA:803	Amyotrophic Lateral Sclerosis	yes	yes	yes	no	NA
PON3	HGNC:9206	MGI:106686	ORPHA:803	Amyotrophic Lateral Sclerosis	yes	yes	yes	no	NA
POP1	HGNC:30129	MGI:1914974	OMIM:617396|ORPHA:93347	Anauxetic Dysplasia 2|Anauxetic Dysplasia	yes	yes	yes	no	NA
POP4	HGNC:30081	MGI:1913411	-	-	yes	no	no	no	NA
POP5	HGNC:17689	MGI:2151221	-	-	yes	no	no	no	NA
POP7	HGNC:19949	MGI:1921347	-	-	yes	no	no	no	NA
POPDC2	HGNC:17648	MGI:1930150	-	-	no	no	no	no	NA
POPDC3	HGNC:17649	MGI:1930153	OMIM:618848	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	yes	no	yes	no	NA
POR	HGNC:9208	MGI:97744	OMIM:201750|OMIM:613571|ORPHA:63269|ORPHA:95699	Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis|Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency|Antley-Bixler Syndrome With Genital Anomaly And Disorder Of Steroidogenesis|Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	no	no	no	no	NA
PORCN	HGNC:17652	MGI:1890212	OMIM:305600|ORPHA:2092|ORPHA:98938	Focal Dermal Hypoplasia|Colobomatous Microphthalmia	no	no	no	no	NA
POSTN	HGNC:16953	MGI:1926321	-	-	yes	no	no	no	NA
POU1F1	HGNC:9210	MGI:97588	OMIM:613038|ORPHA:226307|ORPHA:231679|ORPHA:95494	Pituitary Hormone Deficiency, Combined Or Isolated, 1|Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function|Isolated Growth Hormone Deficiency Type Ii|Combined Pituitary Hormone Deficiencies, Genetic Forms	yes	yes	yes	no	NA
POU2AF1	HGNC:9211	MGI:105086	ORPHA:186	Primary Biliary Cholangitis	yes	yes	yes	yes	17.955
POU2AF2	HGNC:30527	MGI:1917059	-	-	no	no	no	no	NA
POU2AF3	HGNC:26978	MGI:2685530	-	-	yes	no	no	no	NA
POU2F1	HGNC:9212	MGI:101898	-	-	no	no	no	no	NA
POU2F2	HGNC:9213	MGI:101897	-	-	no	no	no	no	NA
POU2F3	HGNC:19864	MGI:102565	-	-	yes	no	no	no	NA
POU3F1	HGNC:9214	MGI:101896	-	-	no	no	no	no	NA
POU3F2	HGNC:9215	MGI:101895	-	-	no	no	no	no	NA
POU3F3	HGNC:9216	MGI:102564	OMIM:618604	Snijders Blok-Fisher Syndrome	no	no	no	no	NA
POU3F4	HGNC:9217	MGI:101894	OMIM:304400|ORPHA:1435|ORPHA:90641	Deafness, X-Linked 2|Xq21 Microdeletion Syndrome|Rare Mitochondrial Non-Syndromic Sensorineural Deafness	no	no	no	no	NA
POU4F1	HGNC:9218	MGI:102525	OMIM:619352|ORPHA:314647	Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset|Non-Progressive Cerebellar Ataxia With Intellectual Disability	no	no	no	no	NA
POU4F2	HGNC:9219	MGI:102524	-	-	no	no	no	no	NA
POU4F3	HGNC:9220	MGI:102523	OMIM:602459|ORPHA:90635	Deafness, Autosomal Dominant 15|Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	no	no	no	no	NA
POU5F2	HGNC:26367	MGI:1922757	-	-	no	no	no	no	NA
POU6F1	HGNC:9224	MGI:102935	-	-	no	no	no	no	NA
POU6F2	HGNC:21694	MGI:2443631	OMIM:601583|ORPHA:654	Wilms Tumor 5|Nephroblastoma	no	no	no	no	NA
PP2D1	HGNC:28406	MGI:3612067	-	-	no	no	no	no	NA
PPA1	HGNC:9226	MGI:97831	-	-	no	no	no	no	NA
PPA2	HGNC:28883	MGI:1922026	OMIM:617223|OMIM:617222	Sudden Cardiac Failure, Alcohol-Induced|Sudden Cardiac Failure, Infantile	yes	yes	yes	no	NA
PPAN	HGNC:9227	MGI:2178445	-	-	no	no	no	no	NA
PPARA	HGNC:9232	MGI:104740	-	-	yes	no	no	no	NA
PPARD	HGNC:9235	MGI:101884	-	-	no	no	no	no	NA
PPARG	HGNC:9236	MGI:97747	OMIM:609338|OMIM:125853|OMIM:604367|OMIM:601665|ORPHA:146|ORPHA:528|ORPHA:251576|ORPHA:251579|ORPHA:79083	Carotid Intimal Medial Thickness 1|Type 2 Diabetes Mellitus|Lipodystrophy, Familial Partial, Type 3|Obesity|Differentiated Thyroid Carcinoma|Congenital Generalized Lipodystrophy|Gliosarcoma|Giant Cell Glioblastoma|Pparg-Related Familial Partial Lipodystrophy	yes	yes	yes	yes	53.23
PPARGC1A	HGNC:9237	MGI:1342774	ORPHA:803	Amyotrophic Lateral Sclerosis	yes	yes	yes	no	NA
PPARGC1B	HGNC:30022	MGI:2444934	-	-	no	no	no	no	NA
PPAT	HGNC:9238	MGI:2387203	-	-	yes	no	no	no	NA
PPBP	HGNC:9240	MGI:1888712	-	-	yes	no	no	no	NA
PPCDC	HGNC:28107	MGI:1914062	-	-	no	no	no	no	NA
PPCS	HGNC:25686	MGI:1915237	OMIM:618189|ORPHA:154	Cardiomyopathy, Dilated, 2C|Familial Isolated Dilated Cardiomyopathy	no	no	no	no	NA
PPDPF	HGNC:16142	MGI:1913746	-	-	yes	no	no	no	NA
PPEF1	HGNC:9243	MGI:1097157	-	-	yes	no	no	no	NA
PPEF2	HGNC:9244	MGI:1342304	-	-	no	no	no	no	NA
PPFIA1	HGNC:9245	MGI:1924750	-	-	yes	no	no	no	NA
PPFIA2	HGNC:9246	MGI:2443834	-	-	yes	no	no	no	NA
PPFIA3	HGNC:9247	MGI:1924037	-	-	yes	no	no	no	NA
PPFIA4	HGNC:9248	MGI:1915757	-	-	yes	no	no	no	NA
PPFIBP1	HGNC:9249	MGI:1914783	OMIM:620024	Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	no	no	no	no	NA
PPFIBP2	HGNC:9250	MGI:894649	-	-	yes	no	no	no	NA
PPHLN1	HGNC:19369	MGI:1917029	-	-	no	no	no	no	NA
PPIA	HGNC:9253	MGI:97749	-	-	yes	no	no	no	NA
PPIB	HGNC:9255	MGI:97750	OMIM:259440|ORPHA:216804|ORPHA:216812|ORPHA:216820	Osteogenesis Imperfecta, Type Ix|Osteogenesis Imperfecta Type 2|Osteogenesis Imperfecta Type 3|Osteogenesis Imperfecta Type 4	no	no	no	no	NA
PPIC	HGNC:9256	MGI:97751	-	-	no	no	no	no	NA
PPID	HGNC:9257	MGI:1914988	-	-	no	no	no	no	NA
PPIE	HGNC:9258	MGI:1917118	-	-	yes	no	no	no	NA
PPIF	HGNC:9259	MGI:2145814	-	-	no	no	no	no	NA
PPIG	HGNC:14650	MGI:2445173	-	-	yes	no	no	no	NA
PPIH	HGNC:14651	MGI:106499	-	-	no	no	no	no	NA
PPIL1	HGNC:9260	MGI:1916066	OMIM:619301	Pontocerebellar Hypoplasia, Type 14	yes	yes	yes	yes	32.25
PPIL2	HGNC:9261	MGI:2447857	-	-	no	no	no	no	NA
PPIL3	HGNC:9262	MGI:1917475	-	-	yes	no	no	no	NA
PPIL4	HGNC:15702	MGI:1914668	-	-	no	no	no	no	NA
PPIL6	HGNC:21557	MGI:1920325	-	-	no	no	no	no	NA
PPIP5K1	HGNC:29023	MGI:2443281	-	-	no	no	no	no	NA
PPIP5K2	HGNC:29035	MGI:2142810	OMIM:618422|ORPHA:90636	Deafness, Autosomal Recessive 100|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	yes	yes	yes	no	NA
PPL	HGNC:9273	MGI:1194898	-	-	yes	no	no	no	NA
PPM1A	HGNC:9275	MGI:99878	-	-	yes	no	no	no	NA
PPM1B	HGNC:9276	MGI:101841	ORPHA:163693	2P21 Microdeletion Syndrome	no	no	no	no	NA
PPM1D	HGNC:9277	MGI:1858214	OMIM:114480|OMIM:617450|ORPHA:227535	Breast Cancer|Jansen-De Vries Syndrome|Hereditary Breast Cancer	yes	no	yes	no	NA
PPM1E	HGNC:19322	MGI:2444096	-	-	no	no	no	no	NA
PPM1F	HGNC:19388	MGI:1918464	-	-	no	no	no	no	NA
PPM1G	HGNC:9278	MGI:106065	-	-	no	no	no	no	NA
PPM1H	HGNC:18583	MGI:2442087	-	-	no	no	no	no	NA
PPM1J	HGNC:20785	MGI:1919137	-	-	yes	no	no	no	NA
PPM1K	HGNC:25415	MGI:2442111	OMIM:615135|ORPHA:268162	Maple Syrup Urine Disease, Mild Variant|Intermediate Maple Syrup Urine Disease	no	no	no	no	NA
PPM1L	HGNC:16381	MGI:2139740	-	-	no	no	no	no	NA
PPM1M	HGNC:26506	MGI:1915155	-	-	yes	no	no	no	NA
PPM1N	HGNC:26845	MGI:2142330	-	-	yes	no	no	no	NA
PPME1	HGNC:30178	MGI:1919840	-	-	yes	no	no	no	NA
PPOX	HGNC:9280	MGI:104968	OMIM:176200|OMIM:620483|ORPHA:79473	Variegate Porphyria|Variegate Porphyria, Childhood-Onset|Porphyria Variegata	yes	yes	yes	yes	32.97
PPP1CA	HGNC:9281	MGI:103016	-	-	no	no	no	no	NA
PPP1CB	HGNC:9282	MGI:104871	OMIM:617506|ORPHA:2701	Noonan Syndrome-Like Disorder With Loose Anagen Hair 2|Noonan Syndrome-Like Disorder With Loose Anagen Hair	yes	yes	yes	no	NA
PPP1CC	HGNC:9283	MGI:104872	-	-	yes	no	no	no	NA
PPP1R10	HGNC:9284	MGI:1289273	-	-	no	no	no	no	NA
PPP1R11	HGNC:9285	MGI:1923747	-	-	no	no	no	no	NA
PPP1R12A	HGNC:7618	MGI:1309528	OMIM:618820	Genitourinary And/Or Brain Malformation Syndrome	no	no	no	no	NA
PPP1R12B	HGNC:7619	MGI:1916417	-	-	yes	no	no	no	NA
PPP1R12C	HGNC:14947	MGI:1924258	-	-	yes	no	no	no	NA
PPP1R13B	HGNC:14950	MGI:1336199	-	-	no	no	no	no	NA
PPP1R13L	HGNC:18838	MGI:3525053	OMIM:620519	Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	no	no	no	no	NA
PPP1R14A	HGNC:14871	MGI:1931139	-	-	yes	no	no	no	NA
PPP1R14C	HGNC:14952	MGI:1923392	-	-	no	no	no	no	NA
PPP1R14D	HGNC:14953	MGI:1919362	-	-	yes	no	no	no	NA
PPP1R15A	HGNC:14375	MGI:1927072	-	-	yes	no	no	no	NA
PPP1R15B	HGNC:14951	MGI:2444211	OMIM:616817|ORPHA:391408	Microcephaly, Short Stature, And Impaired Glucose Metabolism 2|Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	no	no	no	no	NA
PPP1R16A	HGNC:14941	MGI:1920312	-	-	no	no	no	no	NA
PPP1R16B	HGNC:15850	MGI:2151841	-	-	no	no	no	no	NA
PPP1R17	HGNC:16973	MGI:1333876	OMIM:143890	Hypercholesterolemia, Familial, 1	yes	yes	yes	yes	20.31
PPP1R18	HGNC:29413	MGI:1923698	-	-	no	no	no	no	NA
PPP1R1A	HGNC:9286	MGI:1889595	-	-	yes	no	no	no	NA
PPP1R1B	HGNC:9287	MGI:94860	-	-	no	no	no	no	NA
PPP1R1C	HGNC:14940	MGI:1923185	-	-	no	no	no	no	NA
PPP1R2	HGNC:9288	MGI:1914099	-	-	no	no	no	no	NA
PPP1R21	HGNC:30595	MGI:1921075	OMIM:619383	Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	yes	yes	yes	no	NA
PPP1R26	HGNC:29089	MGI:2685193	-	-	yes	no	no	no	NA
PPP1R27	HGNC:16813	MGI:1915951	-	-	no	no	no	no	NA
PPP1R35	HGNC:28320	MGI:1922853	-	-	yes	no	no	no	NA
PPP1R36	HGNC:20097	MGI:2684916	-	-	no	no	no	no	NA
PPP1R37	HGNC:27607	MGI:2687042	-	-	no	no	no	no	NA
PPP1R3A	HGNC:9291	MGI:2153588	OMIM:125853	Type 2 Diabetes Mellitus	yes	no	yes	no	NA
PPP1R3B	HGNC:14942	MGI:2177268	-	-	no	no	no	no	NA
PPP1R3C	HGNC:9293	MGI:1858229	-	-	no	no	no	no	NA
PPP1R3D	HGNC:9294	MGI:1917664	-	-	no	no	no	no	NA
PPP1R3E	HGNC:14943	MGI:2145790	-	-	no	no	no	no	NA
PPP1R3F	HGNC:14944	MGI:1859617	-	-	yes	no	no	no	NA
PPP1R3G	HGNC:14945	MGI:1923737	-	-	no	no	no	no	NA
PPP1R42	HGNC:33732	MGI:1921138	-	-	yes	no	no	no	NA
PPP1R7	HGNC:9295	MGI:1913635	-	-	no	no	no	no	NA
PPP1R8	HGNC:9296	MGI:2140494	-	-	no	no	no	no	NA
PPP1R9A	HGNC:14946	MGI:2442401	-	-	no	no	no	no	NA
PPP1R9B	HGNC:9298	MGI:2387581	-	-	yes	no	no	no	NA
PPP2CA	HGNC:9299	MGI:1321159	OMIM:618354|ORPHA:528084	Houge-Janssens Syndrome 3|Non-Specific Syndromic Intellectual Disability	no	no	no	no	NA
PPP2CB	HGNC:9300	MGI:1321161	-	-	yes	no	no	no	NA
PPP2R1A	HGNC:9302	MGI:1926334	OMIM:616362|ORPHA:457284	Hogue-Janssen Syndrome 2|Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	no	no	no	no	NA
PPP2R1B	HGNC:9303	MGI:1920949	OMIM:211980	Lung Cancer	yes	yes	yes	no	NA
PPP2R2A	HGNC:9304	MGI:1919228	-	-	yes	no	no	no	NA
PPP2R2B	HGNC:9305	MGI:1920180	OMIM:604326|ORPHA:98762	Spinocerebellar Ataxia 12|Spinocerebellar Ataxia Type 12	yes	yes	yes	no	NA
PPP2R2C	HGNC:9306	MGI:2442660	-	-	yes	no	no	no	NA
PPP2R2D	HGNC:23732	MGI:1289252	-	-	yes	no	no	no	NA
PPP2R3A	HGNC:9307	MGI:2442104	-	-	yes	no	no	no	NA
PPP2R3C	HGNC:17485	MGI:1930009	OMIM:618419|OMIM:618420	Myoectodermal Gonadal Dysgenesis Syndrome|Spermatogenic Failure 36	yes	yes	yes	yes	12.315
PPP2R5A	HGNC:9309	MGI:2388479	-	-	yes	no	no	no	NA
PPP2R5B	HGNC:9310	MGI:2388480	-	-	no	no	no	no	NA
PPP2R5C	HGNC:9311	MGI:1349475	-	-	yes	no	no	no	NA
PPP2R5D	HGNC:9312	MGI:2388481	OMIM:616355|ORPHA:457279	Houge-Janssens Syndrome 1|Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	yes	yes	yes	no	NA
PPP2R5E	HGNC:9313	MGI:1349473	-	-	yes	no	no	no	NA
PPP3CA	HGNC:9314	MGI:107164	OMIM:618265|OMIM:617711|ORPHA:178469|ORPHA:442835|ORPHA:565858	Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development|Developmental And Epileptic Encephalopathy 91|Autosomal Dominant Non-Syndromic Intellectual Disability|Non-Specific Early-Onset Epileptic Encephalopathy|Craniosynostosis-Microretrognathia-Severe Intellectual Disability Syndrome	yes	yes	yes	yes	25.845
PPP3CB	HGNC:9315	MGI:107163	-	-	yes	no	no	no	NA
PPP3CC	HGNC:9316	MGI:107162	-	-	yes	no	no	no	NA
PPP3R1	HGNC:9317	MGI:107172	-	-	no	no	no	no	NA
PPP3R2	HGNC:9318	MGI:107171	-	-	yes	no	no	no	NA
PPP4C	HGNC:9319	MGI:1891763	-	-	yes	no	no	no	NA
PPP4R1	HGNC:9320	MGI:1917601	-	-	yes	no	no	no	NA
PPP4R2	HGNC:18296	MGI:3027896	-	-	yes	no	no	no	NA
PPP4R3A	HGNC:20219	MGI:1915984	-	-	no	no	no	no	NA
PPP4R3B	HGNC:29267	MGI:2144474	-	-	yes	no	no	no	NA
PPP4R4	HGNC:23788	MGI:1921771	-	-	no	no	no	no	NA
PPP5C	HGNC:9322	MGI:102666	-	-	yes	no	no	no	NA
PPP6C	HGNC:9323	MGI:1915107	-	-	yes	no	no	no	NA
PPP6R1	HGNC:29195	MGI:2442163	-	-	no	no	no	no	NA
PPP6R2	HGNC:19253	MGI:1918724	-	-	yes	no	no	no	NA
PPP6R3	HGNC:1173	MGI:1921807	-	-	no	no	no	no	NA
PPRC1	HGNC:30025	MGI:2385096	-	-	no	no	no	no	NA
PPT1	HGNC:9325	MGI:1298204	OMIM:256730|ORPHA:228329	Ceroid Lipofuscinosis, Neuronal, 1|Cln1 Disease	no	no	no	no	NA
PPT2	HGNC:9326	MGI:1860075	-	-	yes	no	no	no	NA
PPTC7	HGNC:30695	MGI:2444593	-	-	yes	no	no	no	NA
PPWD1	HGNC:28954	MGI:2443069	-	-	no	no	no	no	NA
PPY	HGNC:9327	MGI:97753	-	-	yes	no	no	no	NA
PQBP1	HGNC:9330	MGI:1859638	OMIM:309500|ORPHA:93950|ORPHA:93947|ORPHA:93946|ORPHA:93945	Renpenning Syndrome 1|X-Linked Intellectual Disability, Sutherland-Haan Type|X-Linked Intellectual Disability, Golabi-Ito-Hall Type|Hamel Cerebro-Palato-Cardiac Syndrome|X-Linked Intellectual Disability, Porteous Type	yes	yes	yes	no	NA
PRADC1	HGNC:16047	MGI:1920577	-	-	no	no	no	no	NA
PRAF2	HGNC:28911	MGI:1859607	-	-	yes	no	no	no	NA
PRAG1	HGNC:25438	MGI:1196223	-	-	yes	no	no	no	NA
PRAM1	HGNC:30091	MGI:3576625	-	-	yes	no	no	no	NA
PRAP1	HGNC:23304	MGI:893573	-	-	no	no	no	no	NA
PRC1	HGNC:9341	MGI:1858961	-	-	yes	no	no	no	NA
PRCC	HGNC:9343	MGI:2137738	OMIM:605074|ORPHA:319308	Renal Cell Carcinoma, Papillary, 1|Mit Family Translocation Renal Cell Carcinoma	no	no	no	no	NA
PRCD	HGNC:32528	MGI:3649529	OMIM:610599|ORPHA:791	Retinitis Pigmentosa 36|Retinitis Pigmentosa	no	no	no	no	NA
PRCP	HGNC:9344	MGI:1919711	-	-	no	no	no	no	NA
PRDM1	HGNC:9346	MGI:99655	-	-	yes	no	no	no	NA
PRDM10	HGNC:13995	MGI:2682952	OMIM:620459	Birt-Hogg-Dube Syndrome 2	yes	yes	no	no	NA
PRDM11	HGNC:13996	MGI:2685553	-	-	no	no	no	no	NA
PRDM12	HGNC:13997	MGI:2685844	OMIM:616488|ORPHA:478664	Neuropathy, Hereditary Sensory And Autonomic, Type Viii|Hereditary Sensory And Autonomic Neuropathy Type 8	yes	yes	yes	no	NA
PRDM13	HGNC:13998	MGI:2448528	OMIM:619761|OMIM:619909	Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism|Pontocerebellar Hypoplasia, Type 17	yes	yes	yes	no	NA
PRDM14	HGNC:14001	MGI:3588194	-	-	yes	no	no	no	NA
PRDM15	HGNC:13999	MGI:1930121	-	-	yes	no	no	no	NA
PRDM16	HGNC:14000	MGI:1917923	OMIM:615373|ORPHA:154|ORPHA:1606|ORPHA:54260	Left Ventricular Noncompaction 8|Familial Isolated Dilated Cardiomyopathy|1P36 Deletion Syndrome|Left Ventricular Noncompaction	no	no	no	no	NA
PRDM2	HGNC:9347	MGI:107628	-	-	yes	no	no	no	NA
PRDM4	HGNC:9348	MGI:1920093	-	-	yes	no	no	no	NA
PRDM5	HGNC:9349	MGI:1918029	OMIM:614170|ORPHA:90354	Brittle Cornea Syndrome 2|Brittle Cornea Syndrome	yes	yes	yes	yes	24.025
PRDM6	HGNC:9350	MGI:2684938	OMIM:617039|ORPHA:466729	Patent Ductus Arteriosus 3|Familial Patent Arterial Duct	no	no	no	no	NA
PRDM8	HGNC:13993	MGI:1924880	OMIM:616640|ORPHA:324290	Epilepsy, Progressive Myoclonic, 10|Early-Onset Lafora Body Disease	yes	yes	yes	yes	22.96
PRDX1	HGNC:9352	MGI:99523	OMIM:277400	Methylmalonic Aciduria And Homocystinuria, Cblc Type	no	no	no	no	NA
PRDX2	HGNC:9353	MGI:109486	-	-	no	no	no	no	NA
PRDX3	HGNC:9354	MGI:88034	OMIM:619871|OMIM:619862	Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet|Spinocerebellar Ataxia, Autosomal Recessive 32	no	no	no	no	NA
PRDX4	HGNC:17169	MGI:1859815	-	-	no	no	no	no	NA
PRDX5	HGNC:9355	MGI:1859821	-	-	no	no	no	no	NA
PREB	HGNC:9356	MGI:1355326	-	-	yes	no	no	no	NA
PRELID1	HGNC:30255	MGI:1913744	-	-	no	no	no	no	NA
PRELID2	HGNC:28306	MGI:1924869	-	-	yes	no	no	no	NA
PRELID3A	HGNC:24639	MGI:2442865	-	-	no	no	no	no	NA
PRELID3B	HGNC:15892	MGI:1913640	-	-	no	no	no	no	NA
PRELP	HGNC:9357	MGI:2151110	-	-	yes	no	no	no	NA
PREP	HGNC:9358	MGI:1270863	-	-	yes	no	no	no	NA
PREPL	HGNC:30228	MGI:2441932	OMIM:616224|ORPHA:163693|ORPHA:163690|ORPHA:238523|ORPHA:369881	Myasthenic Syndrome, Congenital, 22|2P21 Microdeletion Syndrome|Hypotonia-Cystinuria Syndrome|Atypical Hypotonia-Cystinuria Syndrome|2P21 Microdeletion Syndrome Without Cystinuria	yes	yes	yes	yes	46.35
PREX1	HGNC:32594	MGI:3040696	-	-	no	no	no	no	NA
PREX2	HGNC:22950	MGI:1923385	-	-	yes	no	no	no	NA
PRF1	HGNC:9360	MGI:97551	OMIM:609135|OMIM:603553|OMIM:605027|ORPHA:540|ORPHA:391343|ORPHA:88	Aplastic Anemia|Hemophagocytic Lymphohistiocytosis, Familial, 2|Lymphoma, Non-Hodgkin, Familial|Familial Hemophagocytic Lymphohistiocytosis|Fatal Post-Viral Neurodegenerative Disorder|Idiopathic Aplastic Anemia	yes	yes	yes	yes	39.075
PRG2	HGNC:9362	MGI:103294	-	-	yes	no	no	no	NA
PRG3	HGNC:9363	MGI:1858200	-	-	yes	no	no	no	NA
PRG4	HGNC:9364	MGI:1891344	OMIM:208250|ORPHA:2848	Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome|Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	yes	yes	yes	yes	40.07
PRICKLE1	HGNC:17019	MGI:1916034	OMIM:612437|ORPHA:308	Epilepsy, Progressive Myoclonic, 1B|Progressive Myoclonic Epilepsy Type 1	no	no	no	no	NA
PRICKLE2	HGNC:20340	MGI:1925144	ORPHA:178469|ORPHA:402082	Autosomal Dominant Non-Syndromic Intellectual Disability|Progressive Myoclonic Epilepsy Type 5	no	no	no	no	NA
PRICKLE3	HGNC:6645	MGI:1859635	OMIM:308905	Leber Hereditary Optic Neuropathy, Modifier Of	no	no	no	no	NA
PRICKLE4	HGNC:16805	MGI:2685785	-	-	yes	no	no	no	NA
PRIM1	HGNC:9369	MGI:97757	OMIM:620005	Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	yes	yes	yes	no	NA
PRIM2	HGNC:9370	MGI:97758	-	-	no	no	no	no	NA
PRIMA1	HGNC:18319	MGI:1926097	-	-	no	no	no	no	NA
PRIMPOL	HGNC:26575	MGI:3603756	OMIM:615420	Myopia 22, Autosomal Dominant	yes	yes	yes	no	NA
PRKAA1	HGNC:9376	MGI:2145955	-	-	no	no	no	no	NA
PRKAA2	HGNC:9377	MGI:1336173	-	-	yes	no	no	no	NA
PRKAB1	HGNC:9378	MGI:1336167	-	-	yes	no	no	no	NA
PRKAB2	HGNC:9379	MGI:1336185	-	-	yes	no	no	no	NA
PRKACA	HGNC:9380	MGI:97592	OMIM:619142|OMIM:615830|ORPHA:289|ORPHA:401920	Cardioacrofacial Dysplasia 1|Pigmented Nodular Adrenocortical Disease, Primary, 4|Ellis Van Creveld Syndrome|Fibrolamellar Hepatocellular Carcinoma	no	no	no	no	NA
PRKACB	HGNC:9381	MGI:97594	OMIM:619143|ORPHA:289	Cardioacrofacial Dysplasia 2|Ellis Van Creveld Syndrome	yes	yes	yes	no	NA
PRKAG1	HGNC:9385	MGI:108411	-	-	no	no	no	no	NA
PRKAG2	HGNC:9386	MGI:1336153	OMIM:600858|OMIM:261740|OMIM:194200|ORPHA:155|ORPHA:907|ORPHA:439854	Cardiomyopathy, Familial Hypertrophic, 6|Glycogen Storage Disease Of Heart, Lethal Congenital|Wolff-Parkinson-White Syndrome|Non Rare In Europe: Familial Isolated Hypertrophic Cardiomyopathy|Non Rare In Europe: Wolff-Parkinson-White Syndrome|Fatal Congenital Hypertrophic Cardiomyopathy Due To Glycogen Storage Disease	yes	yes	yes	no	NA
PRKAG3	HGNC:9387	MGI:1891343	OMIM:619030	Skeletal Muscle Glycogen Content And Metabolism Quantitative Trait Locus	no	no	no	no	NA
PRKAR1A	HGNC:9388	MGI:104878	OMIM:101800|OMIM:160980|OMIM:255960|OMIM:610489|ORPHA:950|ORPHA:1359|ORPHA:1501|ORPHA:520|ORPHA:615	Acrodysostosis 1 With Or Without Hormone Resistance|Carney Complex, Type 1|Myxoma, Intracardiac|Pigmented Nodular Adrenocortical Disease, Primary, 1|Acrodysostosis|Carney Complex|Adrenocortical Carcinoma|Acute Promyelocytic Leukemia|Familial Atrial Myxoma	no	no	no	no	NA
PRKAR1B	HGNC:9390	MGI:97759	OMIM:619680|ORPHA:412066	Marbach-Schaaf Neurodevelopmental Syndrome|Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	no	no	no	no	NA
PRKAR2A	HGNC:9391	MGI:108025	-	-	no	no	no	no	NA
PRKAR2B	HGNC:9392	MGI:97760	-	-	no	no	no	no	NA
PRKCA	HGNC:9393	MGI:97595	-	-	no	no	no	no	NA
PRKCB	HGNC:9395	MGI:97596	-	-	no	no	no	no	NA
PRKCD	HGNC:9399	MGI:97598	OMIM:615559|ORPHA:1572|ORPHA:3261|ORPHA:300345	Autoimmune Lymphoproliferative Syndrome, Type Iii|Common Variable Immunodeficiency|Autoimmune Lymphoproliferative Syndrome|Autosomal Systemic Lupus Erythematosus	no	no	no	no	NA
PRKCE	HGNC:9401	MGI:97599	-	-	no	no	no	no	NA
PRKCG	HGNC:9402	MGI:97597	OMIM:605361|ORPHA:98763	Spinocerebellar Ataxia 14|Spinocerebellar Ataxia Type 14	no	no	no	no	NA
PRKCH	HGNC:9403	MGI:97600	OMIM:601367	Stroke, Ischemic	yes	yes	yes	no	NA
PRKCI	HGNC:9404	MGI:99260	-	-	no	no	no	no	NA
PRKCQ	HGNC:9410	MGI:97601	-	-	yes	no	no	no	NA
PRKCSH	HGNC:9411	MGI:107877	OMIM:174050|ORPHA:2924	Polycystic Liver Disease 1 With Or Without Kidney Cysts|Isolated Polycystic Liver Disease	yes	yes	yes	no	NA
PRKCZ	HGNC:9412	MGI:97602	ORPHA:1606	1P36 Deletion Syndrome	yes	yes	yes	no	NA
PRKD1	HGNC:9407	MGI:99879	OMIM:617364|ORPHA:500481	Congenital Heart Defects And Ectodermal Dysplasia|Squamous Cell Carcinoma Of Salivary Glands	yes	yes	yes	no	NA
PRKD2	HGNC:17293	MGI:2141917	-	-	yes	no	no	no	NA
PRKD3	HGNC:9408	MGI:1922542	-	-	yes	no	no	no	NA
PRKDC	HGNC:9413	MGI:104779	OMIM:615966|ORPHA:317425	Immunodeficiency 26 With Or Without Neurologic Abnormalities|Severe Combined Immunodeficiency Due To Dna-Pkcs Deficiency	yes	yes	yes	yes	45.375
PRKG1	HGNC:9414	MGI:108174	OMIM:615436|ORPHA:91387	Aortic Aneurysm, Familial Thoracic 8|Familial Thoracic Aortic Aneurysm And Aortic Dissection	yes	yes	yes	yes	39.015
PRKG2	HGNC:9416	MGI:108173	OMIM:619636|OMIM:619638	Acromesomelic Dysplasia 4|Spondylometaphyseal Dysplasia, Pagnamenta Type	no	no	no	no	NA
PRKN	HGNC:8607	MGI:1355296	OMIM:211980|OMIM:167000|OMIM:600116|ORPHA:2828	Lung Cancer|Ovarian Cancer|Parkinson Disease 2, Autosomal Recessive Juvenile|Young-Onset Parkinson Disease	no	no	no	no	NA
PRKRA	HGNC:9438	MGI:1344375	OMIM:612067|ORPHA:210571	Dystonia 16	yes	yes	yes	yes	24.46
PRKRIP1	HGNC:21894	MGI:1914051	-	-	no	no	no	no	NA
PRKX	HGNC:9441	MGI:1309999	-	-	yes	no	no	no	NA
PRLH	HGNC:17945	MGI:3644668	-	-	no	no	no	no	NA
PRLHR	HGNC:4464	MGI:2135956	-	-	no	no	no	no	NA
PRLR	HGNC:9446	MGI:97763	OMIM:615555|OMIM:615554|ORPHA:397685	Hyperprolactinemia|Multiple Fibroadenomas Of The Breast|Familial Hyperprolactinemia	no	no	no	no	NA
PRM2	HGNC:9448	MGI:97766	-	-	no	no	no	no	NA
PRM3	HGNC:13732	MGI:106601	-	-	no	no	no	no	NA
PRMT1	HGNC:5187	MGI:107846	-	-	yes	no	no	no	NA
PRMT2	HGNC:5186	MGI:1316652	-	-	yes	no	no	no	NA
PRMT3	HGNC:30163	MGI:1919224	-	-	yes	no	no	no	NA
PRMT5	HGNC:10894	MGI:1351645	-	-	yes	no	no	no	NA
PRMT6	HGNC:18241	MGI:2139971	-	-	yes	no	no	no	NA
PRMT7	HGNC:25557	MGI:2384879	OMIM:617157|ORPHA:464288	Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures|Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	yes	yes	yes	yes	16.98
PRMT8	HGNC:5188	MGI:3043083	-	-	yes	no	no	no	NA
PRMT9	HGNC:25099	MGI:2142651	-	-	yes	no	no	no	NA
PRND	HGNC:15748	MGI:1346999	-	-	no	no	no	no	NA
PRNP	HGNC:9449	MGI:97769	OMIM:137440|OMIM:123400|OMIM:603218|OMIM:600072|OMIM:606688|OMIM:245300|ORPHA:356|ORPHA:466|ORPHA:157941|ORPHA:280397|ORPHA:282166|ORPHA:454745|ORPHA:397606	Gerstmann-Straussler Disease|Creutzfeldt-Jakob Disease|Huntington Disease-Like 1|Fatal Familial Insomnia|Spongiform Encephalopathy With Neuropsychiatric Features|Kuru, Susceptibility To|Gerstmann-Straussler-Scheinker Syndrome|Familial Alzheimer-Like Prion Disease|Inherited Creutzfeldt-Jakob Disease|Kuru|Prp Systemic Amyloidosis	no	no	no	no	NA
PROB1	HGNC:41906	MGI:2686460	-	-	yes	no	no	no	NA
PROC	HGNC:9451	MGI:97771	OMIM:176860|OMIM:612304|ORPHA:745|ORPHA:64738	Thrombophilia Due To Protein C Deficiency, Autosomal Dominant|Thrombophilia Due To Protein C Deficiency, Autosomal Recessive|Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency|Non Rare In Europe: Non Rare Thrombophilia	no	no	no	no	NA
PROCA1	HGNC:28600	MGI:1918274	-	-	no	no	no	no	NA
PROCR	HGNC:9452	MGI:104596	ORPHA:64738	Non Rare In Europe: Non Rare Thrombophilia	no	no	no	no	NA
PRODH	HGNC:9453	MGI:97770	OMIM:239500|OMIM:600850|ORPHA:419	Hyperprolinemia, Type I|Schizophrenia 4|Hyperprolinemia Type 1	yes	yes	yes	no	NA
PRODH2	HGNC:17325	MGI:1929093	-	-	no	no	no	no	NA
PROK1	HGNC:18454	MGI:2180370	-	-	yes	no	no	no	NA
PROK2	HGNC:18455	MGI:1354178	OMIM:610628|ORPHA:478|ORPHA:432	Hypogonadotropic Hypogonadism 4 With Or Without Anosmia|Kallmann Syndrome|Normosmic Congenital Hypogonadotropic Hypogonadism	no	no	no	no	NA
PROKR1	HGNC:4524	MGI:1929676	-	-	yes	no	no	no	NA
PROKR2	HGNC:15836	MGI:2181363	OMIM:244200|ORPHA:3157|ORPHA:478|ORPHA:432|ORPHA:95496	Hypogonadotropic Hypogonadism 3 With Or Without Anosmia|Septo-Optic Dysplasia Spectrum|Kallmann Syndrome|Normosmic Congenital Hypogonadotropic Hypogonadism|Pituitary Stalk Interruption Syndrome	no	no	no	no	NA
PROM1	HGNC:9454	MGI:1100886	OMIM:612657|OMIM:608051|OMIM:612095|OMIM:603786|ORPHA:827|ORPHA:791|ORPHA:1872|ORPHA:319640	Cone-Rod Dystrophy 12|Macular Dystrophy, Retinal, 2|Retinitis Pigmentosa 41|Stargardt Disease 4|Stargardt Disease|Retinitis Pigmentosa|Cone Rod Dystrophy|Retinal Macular Dystrophy Type 2	no	no	no	no	NA
PROM2	HGNC:20685	MGI:2138997	-	-	yes	no	no	no	NA
PROP1	HGNC:9455	MGI:109330	OMIM:262600|ORPHA:226307|ORPHA:90695|ORPHA:95494	Pituitary Hormone Deficiency, Combined, 2|Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function|Non-Acquired Panhypopituitarism|Combined Pituitary Hormone Deficiencies, Genetic Forms	no	no	no	no	NA
PRORP	HGNC:19958	MGI:1913382	OMIM:619737	Combined Oxidative Phosphorylation Deficiency 54	no	no	no	no	NA
PROS1	HGNC:9456	MGI:1095733	OMIM:612336|OMIM:614514|ORPHA:743|ORPHA:64738	Thrombophilia Due To Protein S Deficiency, Autosomal Dominant|Thrombophilia Due To Protein S Deficiency, Autosomal Recessive|Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency|Non Rare In Europe: Non Rare Thrombophilia	no	no	no	no	NA
PROSER1	HGNC:20291	MGI:1919933	-	-	no	no	no	no	NA
PROSER2	HGNC:23728	MGI:2442238	-	-	yes	no	no	no	NA
PROSER3	HGNC:25204	MGI:2681861	-	-	no	no	no	no	NA
PROX1	HGNC:9459	MGI:97772	-	-	no	no	no	no	NA
PROX2	HGNC:26715	MGI:1920672	-	-	yes	no	no	no	NA
PROZ	HGNC:9460	MGI:1860488	OMIM:614024|ORPHA:329217|ORPHA:64738	Protein Z Deficiency|Cerebral Sinovenous Thrombosis|Non Rare In Europe: Non Rare Thrombophilia	no	no	no	no	NA
PRP4K	HGNC:17346	MGI:109584	-	-	yes	no	no	no	NA
PRPF18	HGNC:17351	MGI:1914479	-	-	yes	no	no	no	NA
PRPF19	HGNC:17896	MGI:106247	-	-	no	no	no	no	NA
PRPF3	HGNC:17348	MGI:1918017	OMIM:601414|ORPHA:791	Retinitis Pigmentosa 18|Retinitis Pigmentosa	yes	yes	yes	no	NA
PRPF31	HGNC:15446	MGI:1916238	OMIM:600138|ORPHA:791	Retinitis Pigmentosa 11|Retinitis Pigmentosa	yes	yes	yes	yes	22.495
PRPF38A	HGNC:25930	MGI:1916962	-	-	no	no	no	no	NA
PRPF38B	HGNC:25512	MGI:1914171	-	-	yes	no	no	no	NA
PRPF39	HGNC:20314	MGI:104602	-	-	yes	no	no	no	NA
PRPF4	HGNC:17349	MGI:1917302	OMIM:615922|ORPHA:791	Retinitis Pigmentosa 70|Retinitis Pigmentosa	no	no	no	no	NA
PRPF40A	HGNC:16463	MGI:1860512	-	-	yes	no	no	no	NA
PRPF40B	HGNC:25031	MGI:1925583	-	-	yes	no	no	no	NA
PRPF6	HGNC:15860	MGI:1922946	OMIM:613983|ORPHA:791	Retinitis Pigmentosa 60|Retinitis Pigmentosa	yes	yes	yes	yes	30.46
PRPF8	HGNC:17340	MGI:2179381	OMIM:600059|ORPHA:791|ORPHA:528084	Retinitis Pigmentosa 13|Retinitis Pigmentosa|Non-Specific Syndromic Intellectual Disability	yes	yes	yes	no	NA
PRPH	HGNC:9461	MGI:97774	OMIM:105400|ORPHA:803	Amyotrophic Lateral Sclerosis 1|Amyotrophic Lateral Sclerosis	no	no	no	no	NA
PRPH2	HGNC:9942	MGI:102791	OMIM:613105|OMIM:136880|OMIM:608133|OMIM:169150|OMIM:608161|ORPHA:827|ORPHA:791|ORPHA:1872|ORPHA:227796|ORPHA:75377|ORPHA:52427|ORPHA:99001|ORPHA:99000|ORPHA:99003	Choroidal Dystrophy, Central Areolar 2|Fundus Albipunctatus|Retinitis Pigmentosa 7|Macular Dystrophy, Patterned, 1|Macular Dystrophy, Vitelliform, 3|Stargardt Disease|Retinitis Pigmentosa|Cone Rod Dystrophy|Central Areolar Choroidal Dystrophy|Retinitis Punctata Albescens|Butterfly-Shaped Pigment Dystrophy|Adult-Onset Foveomacular Vitelliform Dystrophy|Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus	no	no	no	no	NA
PRPS1L1	HGNC:9463	MGI:1922706	-	-	no	no	no	no	NA
PRPS2	HGNC:9465	MGI:97776	-	-	no	no	no	no	NA
PRPSAP1	HGNC:9466	MGI:1915013	-	-	no	no	no	no	NA
PRPSAP2	HGNC:9467	MGI:2384838	-	-	yes	no	no	no	NA
PRR11	HGNC:25619	MGI:2444496	-	-	no	no	no	no	NA
PRR12	HGNC:29217	MGI:2679002	OMIM:619539	Neuroocular Syndrome	no	no	no	no	NA
PRR13	HGNC:24528	MGI:1913401	-	-	no	no	no	no	NA
PRR14	HGNC:28458	MGI:2384565	-	-	no	no	no	no	NA
PRR14L	HGNC:28738	MGI:2443658	-	-	no	no	no	no	NA
PRR15	HGNC:22310	MGI:1925254	-	-	no	no	no	no	NA
PRR15L	HGNC:28149	MGI:2387599	-	-	yes	no	no	no	NA
PRR16	HGNC:29654	MGI:1918623	-	-	no	no	no	no	NA
PRR18	HGNC:28574	MGI:2443403	-	-	no	no	no	no	NA
PRR19	HGNC:33728	MGI:3648539	-	-	no	no	no	no	NA
PRR22	HGNC:28354	MGI:2685392	-	-	no	no	no	no	NA
PRR27	HGNC:33193	MGI:1921029	-	-	yes	no	no	no	NA
PRR29	HGNC:25673	MGI:1922823	-	-	no	no	no	no	NA
PRR3	HGNC:21149	MGI:1922460	-	-	no	no	no	no	NA
PRR30	HGNC:28677	MGI:1923877	-	-	no	no	no	no	NA
PRR32	HGNC:34498	MGI:1916050	-	-	no	no	no	no	NA
PRR35	HGNC:14139	MGI:2442713	-	-	yes	no	no	no	NA
PRR36	HGNC:26172	MGI:3605626	-	-	no	no	no	no	NA
PRR5	HGNC:31682	MGI:1924714	-	-	yes	no	no	no	NA
PRR5L	HGNC:25878	MGI:1919696	-	-	no	no	no	no	NA
PRR7	HGNC:28130	MGI:3487246	-	-	no	no	no	no	NA
PRR9	HGNC:32057	MGI:1925680	-	-	yes	no	no	no	NA
PRRC1	HGNC:28164	MGI:1916106	-	-	no	no	no	no	NA
PRRC2A	HGNC:13918	MGI:1915467	-	-	no	no	no	no	NA
PRRC2B	HGNC:28121	MGI:1923304	-	-	yes	no	no	no	NA
PRRC2C	HGNC:24903	MGI:1913754	-	-	yes	no	no	no	NA
PRRG1	HGNC:9469	MGI:1917364	-	-	no	no	no	no	NA
PRRG2	HGNC:9470	MGI:1929596	-	-	yes	no	no	no	NA
PRRG3	HGNC:30798	MGI:2685214	-	-	no	no	no	no	NA
PRRG4	HGNC:30799	MGI:2442211	-	-	yes	no	no	no	NA
PRRT1	HGNC:13943	MGI:1932118	-	-	no	no	no	no	NA
PRRT1B	HGNC:53642	MGI:3649917	-	-	no	no	no	no	NA
PRRT2	HGNC:30500	MGI:1916267	OMIM:602066|OMIM:128200|OMIM:605751|ORPHA:569|ORPHA:306|ORPHA:31709|ORPHA:98811|ORPHA:98810|ORPHA:98809	Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis|Episodic Kinesigenic Dyskinesia 1|Seizures, Benign Familial Infantile, 2|Familial Or Sporadic Hemiplegic Migraine|Benign Familial Infantile Epilepsy|Infantile Convulsions And Choreoathetosis|Paroxysmal Exertion-Induced Dyskinesia|Paroxysmal Non-Kinesigenic Dyskinesia|Paroxysmal Kinesigenic Dyskinesia	yes	yes	yes	yes	38.82
PRRT3	HGNC:26591	MGI:2444810	-	-	no	no	no	no	NA
PRRT4	HGNC:37280	MGI:2141677	-	-	no	no	no	no	NA
PRRX1	HGNC:9142	MGI:97712	OMIM:202650|ORPHA:990	Agnathia-Otocephaly Complex|Agnathia-Holoprosencephaly-Situs Inversus Syndrome	no	no	no	no	NA
PRRX2	HGNC:21338	MGI:98218	-	-	no	no	no	no	NA
PRSS12	HGNC:9477	MGI:1100881	OMIM:249500|ORPHA:88616	Intellectual Developmental Disorder, Autosomal Recessive 1|Autosomal Recessive Non-Syndromic Intellectual Disability	yes	yes	yes	no	NA
PRSS16	HGNC:9480	MGI:1859181	-	-	yes	no	no	no	NA
PRSS21	HGNC:9485	MGI:1916698	-	-	yes	no	no	no	NA
PRSS22	HGNC:14368	MGI:1918085	-	-	no	no	no	no	NA
PRSS23	HGNC:14370	MGI:1923703	-	-	no	no	no	no	NA
PRSS27	HGNC:15475	MGI:2450123	-	-	yes	no	no	no	NA
PRSS33	HGNC:30405	MGI:2661234	-	-	yes	no	no	no	NA
PRSS35	HGNC:21387	MGI:2444800	-	-	yes	no	no	no	NA
PRSS36	HGNC:26906	MGI:1924863	-	-	yes	no	no	no	NA
PRSS37	HGNC:29211	MGI:1914940	-	-	no	no	no	no	NA
PRSS38	HGNC:29625	MGI:2685095	-	-	no	no	no	no	NA
PRSS41	HGNC:30715	MGI:1918253	-	-	no	no	no	no	NA
PRSS42P	HGNC:30716	MGI:2665280	-	-	no	no	no	no	NA
PRSS45P	HGNC:30717	MGI:3605764	-	-	yes	no	no	no	NA
PRSS48	HGNC:24635	MGI:2685865	-	-	yes	no	no	no	NA
PRSS50	HGNC:17910	MGI:2447303	-	-	yes	no	no	no	NA
PRSS53	HGNC:34407	MGI:2652890	-	-	yes	no	no	no	NA
PRSS54	HGNC:26336	MGI:1918243	-	-	yes	no	no	no	NA
PRSS55	HGNC:30824	MGI:1918287	-	-	yes	no	no	no	NA
PRSS56	HGNC:39433	MGI:1916703	OMIM:613517|ORPHA:35612	Microphthalmia, Isolated 6|Nanophthalmos	yes	yes	yes	yes	21.595
PRSS57	HGNC:31397	MGI:1920356	-	-	yes	no	no	no	NA
PRSS58	HGNC:39125	MGI:3608323	-	-	no	no	no	no	NA
PRSS8	HGNC:9491	MGI:1923810	-	-	yes	no	no	no	NA
PRTG	HGNC:26373	MGI:2444710	-	-	yes	no	no	no	NA
PRTN3	HGNC:9495	MGI:893580	ORPHA:900	Granulomatosis With Polyangiitis	no	no	no	no	NA
PRUNE1	HGNC:13420	MGI:1925152	OMIM:617481|ORPHA:544469	Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies|Prune1-Related Neurological Syndrome	yes	yes	yes	no	NA
PRUNE2	HGNC:25209	MGI:1925004	-	-	yes	no	no	no	NA
PRX	HGNC:13797	MGI:108176	OMIM:614895|OMIM:145900|ORPHA:64748|ORPHA:99952	Charcot-Marie-Tooth Disease, Demyelinating, Type 4F|Hypertrophic Neuropathy Of Dejerine-Sottas|Dejerine-Sottas Syndrome|Charcot-Marie-Tooth Disease Type 4F	no	no	no	no	NA
PRXL2A	HGNC:28651	MGI:1917814	-	-	yes	no	no	no	NA
PRXL2B	HGNC:28390	MGI:1913719	-	-	yes	no	no	no	NA
PRXL2C	HGNC:16881	MGI:1913379	-	-	no	no	no	no	NA
PSAP	HGNC:9498	MGI:97783	OMIM:611721|OMIM:610539|OMIM:611722|OMIM:249900|OMIM:619491|ORPHA:139406|ORPHA:206436|ORPHA:309271|ORPHA:309252|ORPHA:309256|ORPHA:309263	Combined Saposin Deficiency|Gaucher Disease, Atypical, Due To Saposin C Deficiency|Krabbe Disease, Atypical, Due To Saposin A Deficiency|Metachromatic Leukodystrophy Due To Saposin B Deficiency|Parkinson Disease 24, Autosomal Dominant, Susceptibility To|Encephalopathy Due To Prosaposin Deficiency|Infantile Krabbe Disease|Metachromatic Leukodystrophy, Adult Form|Atypical Gaucher Disease Due To Saposin C Deficiency|Metachromatic Leukodystrophy, Late Infantile Form|Metachromatic Leukodystrophy, Juvenile Form	no	no	no	no	NA
PSAPL1	HGNC:33131	MGI:1924193	-	-	no	no	no	no	NA
PSAT1	HGNC:19129	MGI:2183441	OMIM:610992|OMIM:616038|ORPHA:284417|ORPHA:583602	Phosphoserine Aminotransferase Deficiency|Neu-Laxova Syndrome 2|Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form|Neu-Laxova Syndrome Due To Phosphoserine Aminotransferase Deficiency	yes	yes	yes	yes	23.54
PSCA	HGNC:9500	MGI:1919623	-	-	yes	no	no	no	NA
PSD	HGNC:9507	MGI:1920978	-	-	yes	no	no	no	NA
PSD2	HGNC:19092	MGI:1921252	-	-	yes	no	no	no	NA
PSD3	HGNC:19093	MGI:1918215	-	-	yes	no	no	no	NA
PSD4	HGNC:19096	MGI:2674093	-	-	yes	no	no	no	NA
PSEN1	HGNC:9508	MGI:1202717	OMIM:613737|OMIM:607822|OMIM:613694|OMIM:600274|OMIM:172700|ORPHA:1020|ORPHA:154|ORPHA:387|ORPHA:275864|ORPHA:100069|ORPHA:100070	Acne Inversa, Familial, 3|Alzheimer Disease 3|Cardiomyopathy, Dilated, 1U|Frontotemporal Dementia|Pick Disease Of Brain|Early-Onset Autosomal Dominant Alzheimer Disease|Familial Isolated Dilated Cardiomyopathy|Non Rare In Europe: Hidradenitis Suppurativa|Behavioral Variant Of Frontotemporal Dementia|Semantic Dementia|Progressive Non-Fluent Aphasia	yes	yes	yes	yes	40.105
PSEN2	HGNC:9509	MGI:109284	OMIM:606889|OMIM:613697|ORPHA:1020|ORPHA:154	Alzheimer Disease 4|Cardiomyopathy, Dilated, 1V|Early-Onset Autosomal Dominant Alzheimer Disease|Familial Isolated Dilated Cardiomyopathy	yes	yes	yes	yes	32.585
PSENEN	HGNC:30100	MGI:1913590	OMIM:613736|ORPHA:387|ORPHA:79145	Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease|Non Rare In Europe: Hidradenitis Suppurativa|Dowling-Degos Disease	no	no	no	no	NA
PSIP1	HGNC:9527	MGI:2142116	-	-	yes	no	no	no	NA
PSKH1	HGNC:9529	MGI:3528383	-	-	yes	no	no	no	NA
PSMA1	HGNC:9530	MGI:1347005	-	-	no	no	no	no	NA
PSMA2	HGNC:9531	MGI:104885	-	-	no	no	no	no	NA
PSMA3	HGNC:9532	MGI:104883	-	-	no	no	no	no	NA
PSMA4	HGNC:9533	MGI:1347060	-	-	no	no	no	no	NA
PSMA5	HGNC:9534	MGI:1347009	-	-	no	no	no	no	NA
PSMA6	HGNC:9535	MGI:1347006	OMIM:608446	Myocardial Infarction, Susceptibility To	no	no	no	no	NA
PSMA7	HGNC:9536	MGI:1347070	-	-	no	no	no	no	NA
PSMA8	HGNC:22985	MGI:1920927	-	-	yes	no	no	no	NA
PSMB1	HGNC:9537	MGI:104884	OMIM:620038	Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Absent Language	no	no	no	no	NA
PSMB10	HGNC:9538	MGI:1096380	OMIM:619175	Proteasome-Associated Autoinflammatory Syndrome 5	no	no	no	no	NA
PSMB11	HGNC:31963	MGI:1921152	-	-	yes	no	no	no	NA
PSMB2	HGNC:9539	MGI:1347045	-	-	no	no	no	no	NA
PSMB3	HGNC:9540	MGI:1347014	-	-	no	no	no	no	NA
PSMB4	HGNC:9541	MGI:1098257	OMIM:617591	Proteasome-Associated Autoinflammatory Syndrome 3	no	no	no	no	NA
PSMB5	HGNC:9542	MGI:1194513	-	-	no	no	no	no	NA
PSMB6	HGNC:9543	MGI:104880	-	-	no	no	no	no	NA
PSMB7	HGNC:9544	MGI:107637	-	-	no	no	no	no	NA
PSMB8	HGNC:9545	MGI:1346527	OMIM:256040|ORPHA:324977	Proteasome-Associated Autoinflammatory Syndrome 1|Proteasome-Associated Autoinflammatory Syndrome	no	no	no	no	NA
PSMB9	HGNC:9546	MGI:1346526	OMIM:617591	Proteasome-Associated Autoinflammatory Syndrome 3	no	no	no	no	NA
PSMC1	HGNC:9547	MGI:106054	OMIM:620071	Birk-Aharoni Syndrome	no	no	no	no	NA
PSMC2	HGNC:9548	MGI:109555	-	-	yes	no	no	no	NA
PSMC3	HGNC:9549	MGI:1098754	OMIM:619354	Deafness, Cataract, Impaired Intellectual Development, And Polyneuropathy	no	no	no	no	NA
PSMC3IP	HGNC:17928	MGI:1098610	OMIM:614324|ORPHA:243	Ovarian Dysgenesis 3|46,Xx Gonadal Dysgenesis	no	no	no	no	NA
PSMC4	HGNC:9551	MGI:1346093	-	-	no	no	no	no	NA
PSMC5	HGNC:9552	MGI:105047	-	-	no	no	no	no	NA
PSMC6	HGNC:9553	MGI:1914339	-	-	yes	no	no	no	NA
PSMD1	HGNC:9554	MGI:1917497	-	-	no	no	no	no	NA
PSMD10	HGNC:9555	MGI:1858898	-	-	no	no	no	no	NA
PSMD11	HGNC:9556	MGI:1916327	-	-	no	no	no	no	NA
PSMD12	HGNC:9557	MGI:1914247	OMIM:617516|ORPHA:528084|ORPHA:529962	Stankiewicz-Isidor Syndrome|Non-Specific Syndromic Intellectual Disability|17Q24.2 Microdeletion Syndrome	no	no	no	no	NA
PSMD13	HGNC:9558	MGI:1345192	-	-	yes	no	no	no	NA
PSMD14	HGNC:16889	MGI:1913284	-	-	yes	no	no	no	NA
PSMD2	HGNC:9559	MGI:1096584	-	-	yes	no	no	no	NA
PSMD3	HGNC:9560	MGI:98858	-	-	no	no	no	no	NA
PSMD4	HGNC:9561	MGI:1201670	-	-	no	no	no	no	NA
PSMD5	HGNC:9563	MGI:1914248	-	-	yes	no	no	no	NA
PSMD6	HGNC:9564	MGI:1913663	-	-	yes	no	no	no	NA
PSMD7	HGNC:9565	MGI:1351511	-	-	no	no	no	no	NA
PSMD8	HGNC:9566	MGI:1888669	-	-	no	no	no	no	NA
PSMD9	HGNC:9567	MGI:1914401	-	-	no	no	no	no	NA
PSME1	HGNC:9568	MGI:1096367	-	-	yes	no	no	no	NA
PSME3	HGNC:9570	MGI:1096366	-	-	no	no	no	no	NA
PSME3IP1	HGNC:29856	MGI:1919637	-	-	yes	no	no	no	NA
PSME4	HGNC:20635	MGI:2143994	-	-	no	no	no	no	NA
PSMF1	HGNC:9571	MGI:1346072	-	-	yes	no	no	no	NA
PSMG1	HGNC:3043	MGI:1860263	-	-	yes	no	no	no	NA
PSMG2	HGNC:24929	MGI:1922901	OMIM:619183	Proteasome-Associated Autoinflammatory Syndrome 4	no	no	no	no	NA
PSMG3	HGNC:22420	MGI:1913756	-	-	no	no	no	no	NA
PSMG4	HGNC:21108	MGI:1916916	-	-	no	no	no	no	NA
PSORS1C2	HGNC:17199	MGI:1930025	-	-	yes	no	no	no	NA
PSPC1	HGNC:20320	MGI:1913895	-	-	yes	no	no	no	NA
PSPH	HGNC:9577	MGI:97788	OMIM:614023|ORPHA:79350	Phosphoserine Phosphatase Deficiency|3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	yes	yes	yes	yes	27.88
PSPN	HGNC:9579	MGI:1201684	-	-	no	no	no	no	NA
PSRC1	HGNC:24472	MGI:1913099	-	-	no	no	no	no	NA
PSTK	HGNC:28578	MGI:2685945	-	-	no	no	no	no	NA
PSTPIP1	HGNC:9580	MGI:1321396	OMIM:604416|ORPHA:251523|ORPHA:69126	Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne|Hyperzincemia And Hypercalprotectinemia|Papa Syndrome	yes	yes	yes	yes	50.215
PSTPIP2	HGNC:9581	MGI:1335088	-	-	yes	no	no	no	NA
PTAFR	HGNC:9582	MGI:106066	-	-	yes	no	no	no	NA
PTAR1	HGNC:30449	MGI:1921875	-	-	no	no	no	no	NA
PTBP1	HGNC:9583	MGI:97791	-	-	no	no	no	no	NA
PTBP2	HGNC:17662	MGI:1860489	-	-	yes	no	no	no	NA
PTBP3	HGNC:10253	MGI:1923334	-	-	no	no	no	no	NA
PTCD2	HGNC:25734	MGI:1916177	-	-	no	no	no	no	NA
PTCD3	HGNC:24717	MGI:1917206	OMIM:619057	Combined Oxidative Phosphorylation Deficiency 51	yes	yes	yes	yes	27.76
PTCH1	HGNC:9585	MGI:105373	OMIM:605462|OMIM:109400|OMIM:610828|ORPHA:377|ORPHA:2353|ORPHA:280200|ORPHA:280195|ORPHA:220386|ORPHA:77301|ORPHA:93926|ORPHA:93924|ORPHA:93925	Basal Cell Carcinoma, Susceptibility To, 1|Basal Cell Nevus Syndrome 1|Holoprosencephaly 7|Gorlin Syndrome|Schilbach-Rott Syndrome|Microform Holoprosencephaly|Septopreoptic Holoprosencephaly|Semilobar Holoprosencephaly|Monosomy 9Q22.3|Midline Interhemispheric Variant Of Holoprosencephaly|Lobar Holoprosencephaly|Alobar Holoprosencephaly	yes	no	yes	no	NA
PTCH2	HGNC:9586	MGI:1095405	OMIM:605462|OMIM:155255|ORPHA:377|ORPHA:141276	Basal Cell Carcinoma, Susceptibility To, 1|Medulloblastoma|Gorlin Syndrome|Tessier Number 7 Facial Cleft	yes	yes	yes	no	NA
PTCHD1	HGNC:26392	MGI:2685233	OMIM:300830|ORPHA:106|ORPHA:777	Autism, Susceptibility To, X-Linked 4|Non Rare In Europe: Autism|X-Linked Non-Syndromic Intellectual Disability	yes	yes	yes	yes	79.775
PTCHD3	HGNC:24776	MGI:1921925	-	-	yes	no	no	no	NA
PTCHD4	HGNC:21345	MGI:1920485	-	-	yes	no	no	no	NA
PTCRA	HGNC:21290	MGI:104857	-	-	no	no	no	no	NA
PTDSS1	HGNC:9587	MGI:1276575	OMIM:151050|ORPHA:2658	Lenz-Majewski Hyperostotic Dwarfism	yes	yes	yes	no	NA
PTDSS2	HGNC:15463	MGI:1351664	-	-	no	no	no	no	NA
PTEN	HGNC:9588	MGI:109583	OMIM:158350|OMIM:605309|OMIM:607174|OMIM:176807|OMIM:613028|ORPHA:201|ORPHA:744|ORPHA:109|ORPHA:137608|ORPHA:2969|ORPHA:210548|ORPHA:145|ORPHA:397596|ORPHA:494547|ORPHA:494550|ORPHA:500478|ORPHA:500481|ORPHA:500464|ORPHA:502363|ORPHA:502366|ORPHA:65285|ORPHA:79076|ORPHA:101070	Cowden Syndrome 1|Macrocephaly/Autism Syndrome|Meningioma, Familial, Susceptibility To|Prostate Cancer|Glioma Susceptibility 2|Cowden Syndrome|Proteus Syndrome|Bannayan-Riley-Ruvalcaba Syndrome|Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome|Proteus-Like Syndrome|Macrocephaly-Intellectual Disability-Autism Syndrome|Hereditary Breast And/Or Ovarian Cancer Syndrome|Activated Pi3K-Delta Syndrome|Squamous Cell Carcinoma Of The Hypopharynx|Squamous Cell Carcinoma Of The Larynx|Squamous Cell Carcinoma Of The Oropharynx|Squamous Cell Carcinoma Of Salivary Glands|Squamous Cell Carcinoma Of The Nasal Cavity And Paranasal Sinuses|Squamous Cell Carcinoma Of The Oral Cavity|Squamous Cell Carcinoma Of The Lip|Lhermitte-Duclos Disease|Juvenile Polyposis Of Infancy|Bilateral Frontoparietal Polymicrogyria	no	no	no	no	NA
PTER	HGNC:9590	MGI:107372	-	-	yes	no	no	no	NA
PTF1A	HGNC:23734	MGI:1328312	OMIM:615935|OMIM:609069|ORPHA:2805|ORPHA:65288	Pancreatic Agenesis 2|Pancreatic And Cerebellar Agenesis|Partial Pancreatic Agenesis|Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	no	no	no	no	NA
PTGDR	HGNC:9591	MGI:102966	OMIM:607277	Asthma-Related Traits, Susceptibility To, 1	yes	no	no	no	NA
PTGDR2	HGNC:4502	MGI:1330275	-	-	no	no	no	no	NA
PTGDS	HGNC:9592	MGI:99261	-	-	no	no	no	no	NA
PTGER1	HGNC:9593	MGI:97793	-	-	no	no	no	no	NA
PTGER2	HGNC:9594	MGI:97794	OMIM:208550	Asthma, Nasal Polyps, And Aspirin Intolerance	yes	yes	yes	no	NA
PTGER3	HGNC:9595	MGI:97795	-	-	no	no	no	no	NA
PTGER4	HGNC:9596	MGI:104311	-	-	no	no	no	no	NA
PTGES	HGNC:9599	MGI:1927593	-	-	no	no	no	no	NA
PTGES2	HGNC:17822	MGI:1917592	-	-	yes	no	no	no	NA
PTGES3	HGNC:16049	MGI:1929282	-	-	no	no	no	no	NA
PTGES3L	HGNC:43943	MGI:1916146	-	-	no	no	no	no	NA
PTGFR	HGNC:9600	MGI:97796	-	-	no	no	no	no	NA
PTGFRN	HGNC:9601	MGI:1277114	-	-	no	no	no	no	NA
PTGIR	HGNC:9602	MGI:99535	-	-	no	no	no	no	NA
PTGIS	HGNC:9603	MGI:1097156	OMIM:145500	Hypertension, Essential	yes	yes	yes	no	NA
PTGR1	HGNC:18429	MGI:1914353	-	-	yes	no	no	no	NA
PTGR2	HGNC:20149	MGI:1916372	-	-	no	no	no	no	NA
PTGR3	HGNC:28697	MGI:2444835	-	-	no	no	no	no	NA
PTGS1	HGNC:9604	MGI:97797	-	-	yes	no	no	no	NA
PTGS2	HGNC:9605	MGI:97798	-	-	no	no	no	no	NA
PTH	HGNC:9606	MGI:97799	OMIM:146200|ORPHA:189466	Hypoparathyroidism, Familial Isolated, 1|Familial Isolated Hypoparathyroidism Due To Impaired Pth Secretion	yes	yes	yes	yes	61.045
PTH1R	HGNC:9608	MGI:97801	OMIM:215045|OMIM:600002|OMIM:125350|OMIM:156400|ORPHA:296|ORPHA:412206|ORPHA:79106|ORPHA:33067|ORPHA:50945	Chondrodysplasia, Blomstrand Type|Eiken Syndrome|Failure Of Tooth Eruption, Primary|Metaphyseal Chondrodysplasia, Jansen Type|Ollier Disease|Primary Failure Of Tooth Eruption|Blomstrand Lethal Chondrodysplasia	yes	yes	yes	yes	36.27
PTH2	HGNC:30828	MGI:2152297	-	-	no	no	no	no	NA
PTH2R	HGNC:9609	MGI:2180917	-	-	yes	no	no	no	NA
PTHLH	HGNC:9607	MGI:97800	OMIM:613382|ORPHA:93387	Brachydactyly, Type E2|Brachydactyly Type E	yes	yes	yes	no	NA
PTK2	HGNC:9611	MGI:95481	-	-	no	no	no	no	NA
PTK2B	HGNC:9612	MGI:104908	-	-	no	no	no	no	NA
PTK6	HGNC:9617	MGI:99683	-	-	yes	no	no	no	NA
PTK7	HGNC:9618	MGI:1918711	-	-	yes	no	no	no	NA
PTMA	HGNC:9623	MGI:97803	-	-	yes	no	no	no	NA
PTMS	HGNC:9629	MGI:1916452	-	-	yes	no	no	no	NA
PTN	HGNC:9630	MGI:97804	-	-	no	no	no	no	NA
PTOV1	HGNC:9632	MGI:1933946	-	-	yes	no	no	no	NA
PTP4A1	HGNC:9634	MGI:1277096	-	-	yes	no	no	no	NA
PTP4A2	HGNC:9635	MGI:1277117	-	-	yes	no	no	no	NA
PTP4A3	HGNC:9636	MGI:1277098	-	-	yes	no	no	no	NA
PTPA	HGNC:9308	MGI:1346006	OMIM:620482	Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development	yes	no	yes	no	NA
PTPDC1	HGNC:30184	MGI:2145430	-	-	yes	no	no	no	NA
PTPMT1	HGNC:26965	MGI:1913711	-	-	yes	no	no	no	NA
PTPN1	HGNC:9642	MGI:97805	OMIM:125853	Type 2 Diabetes Mellitus	no	no	no	no	NA
PTPN11	HGNC:9644	MGI:99511	OMIM:607785|OMIM:151100|OMIM:156250|OMIM:163950|ORPHA:648|ORPHA:500|ORPHA:2499|ORPHA:86834	Juvenile Myelomonocytic Leukemia|Leopard Syndrome 1|Metachondromatosis|Noonan Syndrome 1|Noonan Syndrome|Noonan Syndrome With Multiple Lentigines	no	no	no	no	NA
PTPN12	HGNC:9645	MGI:104673	OMIM:114500	Colorectal Cancer	yes	yes	yes	no	NA
PTPN13	HGNC:9646	MGI:103293	-	-	no	no	no	no	NA
PTPN14	HGNC:9647	MGI:102467	OMIM:613611|ORPHA:99141	Choanal Atresia And Lymphedema|Lymphedema-Posterior Choanal Atresia Syndrome	yes	yes	yes	yes	25.7
PTPN18	HGNC:9649	MGI:108410	-	-	yes	no	no	no	NA
PTPN2	HGNC:9650	MGI:97806	ORPHA:206|ORPHA:771|ORPHA:85410|ORPHA:85408	Non Rare In Europe: Crohn Disease|Non Rare In Europe: Ulcerative Colitis|Oligoarticular Juvenile Idiopathic Arthritis|Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	yes	yes	yes	yes	28.39
PTPN20	HGNC:23423	MGI:1196295	-	-	yes	no	no	no	NA
PTPN21	HGNC:9651	MGI:1344406	-	-	no	no	no	no	NA
PTPN22	HGNC:9652	MGI:107170	OMIM:222100|OMIM:152700|OMIM:180300|ORPHA:536|ORPHA:900|ORPHA:397|ORPHA:3437|ORPHA:85410|ORPHA:85408	Type 1 Diabetes Mellitus|Systemic Lupus Erythematosus|Rheumatoid Arthritis|Granulomatosis With Polyangiitis|Giant Cell Arteritis|Vogt-Koyanagi-Harada Disease|Oligoarticular Juvenile Idiopathic Arthritis|Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	no	no	no	no	NA
PTPN23	HGNC:14406	MGI:2144837	OMIM:618890|ORPHA:528084	Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity|Non-Specific Syndromic Intellectual Disability	yes	yes	yes	no	NA
PTPN3	HGNC:9655	MGI:105307	ORPHA:70567	Cholangiocarcinoma	no	no	no	no	NA
PTPN4	HGNC:9656	MGI:1099792	-	-	no	no	no	no	NA
PTPN5	HGNC:9657	MGI:97807	-	-	yes	no	no	no	NA
PTPN6	HGNC:9658	MGI:96055	-	-	no	no	no	no	NA
PTPN7	HGNC:9659	MGI:2156893	-	-	no	no	no	no	NA
PTPN9	HGNC:9661	MGI:1928376	-	-	no	no	no	no	NA
PTPRA	HGNC:9664	MGI:97808	-	-	yes	no	no	no	NA
PTPRB	HGNC:9665	MGI:97809	-	-	no	no	no	no	NA
PTPRC	HGNC:9666	MGI:97810	OMIM:619924|ORPHA:169157	Immunodeficiency 105|T-B+ Severe Combined Immunodeficiency Due To Cd45 Deficiency	no	no	no	no	NA
PTPRCAP	HGNC:9667	MGI:97811	-	-	no	no	no	no	NA
PTPRD	HGNC:9668	MGI:97812	-	-	yes	no	no	no	NA
PTPRE	HGNC:9669	MGI:97813	-	-	no	no	no	no	NA
PTPRF	HGNC:9670	MGI:102695	OMIM:616001|ORPHA:180188	Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2|Isolated Congenital Breast Hypoplasia/Aplasia	no	no	no	no	NA
PTPRG	HGNC:9671	MGI:97814	-	-	no	no	no	no	NA
PTPRH	HGNC:9672	MGI:3026877	-	-	no	no	no	no	NA
PTPRJ	HGNC:9673	MGI:104574	OMIM:114500|OMIM:620484	Colorectal Cancer|Thrombocytopenia 10	no	no	no	no	NA
PTPRK	HGNC:9674	MGI:103310	-	-	yes	no	no	no	NA
PTPRM	HGNC:9675	MGI:102694	-	-	yes	no	no	no	NA
PTPRN	HGNC:9676	MGI:102765	-	-	no	no	no	no	NA
PTPRN2	HGNC:9677	MGI:107418	-	-	no	no	no	no	NA
PTPRO	HGNC:9678	MGI:1097152	OMIM:614196|ORPHA:656	Nephrotic Syndrome, Type 6|Genetic Steroid-Resistant Nephrotic Syndrome	no	no	no	no	NA
PTPRQ	HGNC:9679	MGI:1096349	OMIM:617663|OMIM:613391|ORPHA:90635|ORPHA:90636	Deafness, Autosomal Dominant 73|Deafness, Autosomal Recessive 84A|Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	no	no	no	no	NA
PTPRR	HGNC:9680	MGI:109559	-	-	no	no	no	no	NA
PTPRS	HGNC:9681	MGI:97815	-	-	yes	no	no	no	NA
PTPRT	HGNC:9682	MGI:1321152	-	-	no	no	no	no	NA
PTPRU	HGNC:9683	MGI:1321151	-	-	yes	no	no	no	NA
PTPRZ1	HGNC:9685	MGI:97816	-	-	no	no	no	no	NA
PTRH1	HGNC:27039	MGI:1913779	-	-	no	no	no	no	NA
PTRH2	HGNC:24265	MGI:2444848	OMIM:616263|ORPHA:456312	Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1|Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	no	no	no	no	NA
PTRHD1	HGNC:33782	MGI:1916959	-	-	no	no	no	no	NA
PTS	HGNC:9689	MGI:1338783	OMIM:261640|ORPHA:13	Hyperphenylalaninemia, Bh4-Deficient, A|6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	yes	yes	yes	no	NA
PTTG1IP	HGNC:13524	MGI:2652132	-	-	yes	no	no	no	NA
PTTG1IP2	HGNC:55318	MGI:2686532	-	-	no	no	no	no	NA
PTX3	HGNC:9692	MGI:104641	-	-	no	no	no	no	NA
PTX4	HGNC:14171	MGI:1915759	-	-	no	no	no	no	NA
PUDP	HGNC:16818	MGI:1914615	-	-	yes	no	no	no	NA
PUF60	HGNC:17042	MGI:1915209	OMIM:615583|ORPHA:508488|ORPHA:508498	Verheij Syndrome|8Q24.3 Microdeletion Syndrome|Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	yes	yes	yes	yes	20.42
PUM1	HGNC:14957	MGI:1931749	OMIM:617931|ORPHA:589515|ORPHA:642747	Spinocerebellar Ataxia 47|Pum1-Associated Developmental Disability-Ataxia-Seizure Syndrome|Pum1-Related Cerebellar Ataxia	yes	yes	yes	no	NA
PUM2	HGNC:14958	MGI:1931751	-	-	yes	no	no	no	NA
PUM3	HGNC:29676	MGI:106253	-	-	no	no	no	no	NA
PURA	HGNC:9701	MGI:103079	OMIM:616158|ORPHA:314655|ORPHA:438216	Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties|Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion|Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	no	no	no	no	NA
PURB	HGNC:9702	MGI:1338779	-	-	no	no	no	no	NA
PURG	HGNC:17930	MGI:1922279	-	-	yes	no	no	no	NA
PUS1	HGNC:15508	MGI:1929237	OMIM:600462|ORPHA:2598	Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1|Mitochondrial Myopathy And Sideroblastic Anemia	yes	yes	yes	yes	37.53
PUS10	HGNC:26505	MGI:1921717	-	-	yes	no	no	no	NA
PUS3	HGNC:25461	MGI:1914299	OMIM:617051|ORPHA:488627	Neurodevelopmental Disorder With Microcephaly And Gray Sclerae|Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	no	no	no	no	NA
PUS7	HGNC:26033	MGI:1925947	OMIM:618342|ORPHA:528084	Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature|Non-Specific Syndromic Intellectual Disability	yes	yes	yes	no	NA
PUS7L	HGNC:25276	MGI:1926145	-	-	yes	no	no	no	NA
PUSL1	HGNC:26914	MGI:3047787	-	-	no	no	no	no	NA
PVALB	HGNC:9704	MGI:97821	-	-	no	no	no	no	NA
PVR	HGNC:9705	MGI:107741	-	-	yes	no	no	no	NA
PVRIG	HGNC:32190	MGI:5596028	-	-	yes	no	no	no	NA
PWP1	HGNC:17015	MGI:1914735	-	-	yes	no	no	no	NA
PWP2	HGNC:9711	MGI:1341200	-	-	no	no	no	no	NA
PWWP2A	HGNC:29406	MGI:1918052	-	-	yes	no	no	no	NA
PWWP2B	HGNC:25150	MGI:2142008	-	-	yes	no	no	no	NA
PWWP3A	HGNC:29641	MGI:1915364	-	-	yes	no	no	no	NA
PWWP3B	HGNC:26583	MGI:2445062	-	-	no	no	no	no	NA
PXDC1	HGNC:21361	MGI:1914145	-	-	yes	no	no	no	NA
PXDN	HGNC:14966	MGI:1916925	OMIM:269400|ORPHA:289499	Anterior Segment Dysgenesis 7|Congenital Cataract Microcornea With Corneal Opacity	yes	yes	yes	no	NA
PXK	HGNC:23326	MGI:1289230	ORPHA:536	Systemic Lupus Erythematosus	yes	yes	yes	yes	26.495
PXMP2	HGNC:9716	MGI:107487	-	-	no	no	no	no	NA
PXMP4	HGNC:15920	MGI:1891701	-	-	yes	no	no	no	NA
PXN	HGNC:9718	MGI:108295	-	-	no	no	no	no	NA
PXT1	HGNC:18312	MGI:1916557	-	-	yes	no	no	no	NA
PXYLP1	HGNC:26303	MGI:2442444	-	-	yes	no	no	no	NA
PYCARD	HGNC:16608	MGI:1931465	-	-	no	no	no	no	NA
PYCR1	HGNC:9721	MGI:2384795	OMIM:612940|OMIM:614438|ORPHA:2078|ORPHA:357064|ORPHA:293633	Cutis Laxa, Autosomal Recessive, Type Iib|Cutis Laxa, Autosomal Recessive, Type Iiib|Geroderma Osteodysplastica|Autosomal Recessive Cutis Laxa Type 2B|Pycr1-Related De Barsy Syndrome	yes	yes	yes	no	NA
PYCR2	HGNC:30262	MGI:1277956	OMIM:616420|ORPHA:2512|ORPHA:481152	Leukodystrophy, Hypomyelinating, 10|Autosomal Recessive Primary Microcephaly|Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	yes	yes	yes	yes	31.755
PYCR3	HGNC:25846	MGI:1913444	-	-	yes	no	no	no	NA
PYGB	HGNC:9723	MGI:97828	-	-	no	no	no	no	NA
PYGL	HGNC:9725	MGI:97829	OMIM:232700|ORPHA:369	Glycogen Storage Disease Vi|Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	yes	no	yes	no	NA
PYGM	HGNC:9726	MGI:97830	OMIM:232600|ORPHA:368	Glycogen Storage Disease V|Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	yes	yes	yes	yes	36.34
PYGO1	HGNC:30256	MGI:1919385	-	-	no	no	no	no	NA
PYGO2	HGNC:30257	MGI:1916161	-	-	yes	no	no	no	NA
PYM1	HGNC:30258	MGI:1925678	-	-	no	no	no	no	NA
PYROXD1	HGNC:26162	MGI:2676395	OMIM:617258	Myopathy, Myofibrillar, 8	yes	yes	yes	yes	20.185
PYROXD2	HGNC:23517	MGI:1921830	-	-	yes	no	no	no	NA
PYURF	HGNC:44317	MGI:1913709	-	-	no	no	no	no	NA
PYY	HGNC:9748	MGI:99924	-	-	no	no	no	no	NA
QARS1	HGNC:9751	MGI:1915851	OMIM:615760|ORPHA:404437|ORPHA:423306	Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy|Diffuse Cerebral And Cerebellar Atrophy-Intractable Seizures-Progressive Microcephaly Syndrome|Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome	yes	yes	yes	no	NA
QDPR	HGNC:9752	MGI:97836	OMIM:261630|ORPHA:226	Hyperphenylalaninemia, Bh4-Deficient, C|Dihydropteridine Reductase Deficiency	no	no	no	no	NA
QKI	HGNC:21100	MGI:97837	ORPHA:251671	Angiocentric Glioma	no	no	no	no	NA
QNG1	HGNC:28144	MGI:1917403	-	-	no	no	no	no	NA
QPCT	HGNC:9753	MGI:1917786	-	-	no	no	no	no	NA
QPCTL	HGNC:25952	MGI:1914619	-	-	no	no	no	no	NA
QPRT	HGNC:9755	MGI:1914625	-	-	no	no	no	no	NA
QRFP	HGNC:29982	MGI:3630329	-	-	no	no	no	no	NA
QRICH1	HGNC:24713	MGI:1916482	OMIM:617982|ORPHA:580940	Ververi-Brady Syndrome|Qrich1-Related Intellectual Disability-Chondrodysplasia Syndrome	no	no	no	no	NA
QRICH2	HGNC:25326	MGI:2684912	OMIM:618341	Spermatogenic Failure 35	no	no	no	no	NA
QRSL1	HGNC:21020	MGI:1923813	OMIM:618835|ORPHA:570491	Combined Oxidative Phosphorylation Deficiency 40|Qrsl1-Related Combined Oxidative Phosphorylation Defect	yes	yes	yes	yes	23.06
QSER1	HGNC:26154	MGI:2138986	-	-	yes	no	no	no	NA
QSOX1	HGNC:9756	MGI:1330818	-	-	yes	no	no	no	NA
QSOX2	HGNC:30249	MGI:2387194	-	-	yes	no	no	no	NA
QTRT1	HGNC:23797	MGI:1931441	-	-	no	no	no	no	NA
QTRT2	HGNC:25771	MGI:1922194	-	-	no	no	no	no	NA
R3HCC1	HGNC:27329	MGI:1919093	-	-	no	no	no	no	NA
R3HCC1L	HGNC:23512	MGI:1196316	-	-	yes	no	no	no	NA
R3HDM1	HGNC:9757	MGI:2448514	-	-	yes	no	no	no	NA
R3HDM2	HGNC:29167	MGI:1919000	-	-	no	no	no	no	NA
R3HDM4	HGNC:28270	MGI:1924814	-	-	no	no	no	no	NA
R3HDML	HGNC:16249	MGI:3650937	-	-	no	no	no	no	NA
RAB10	HGNC:9759	MGI:105066	-	-	yes	no	no	no	NA
RAB11A	HGNC:9760	MGI:1858202	ORPHA:178469	Autosomal Dominant Non-Syndromic Intellectual Disability	yes	yes	no	no	NA
RAB11B	HGNC:9761	MGI:99425	OMIM:617807	Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	yes	yes	yes	no	NA
RAB11FIP1	HGNC:30265	MGI:1923017	-	-	yes	no	no	no	NA
RAB11FIP2	HGNC:29152	MGI:1922248	-	-	yes	no	no	no	NA
RAB11FIP3	HGNC:17224	MGI:2444431	-	-	yes	no	no	no	NA
RAB11FIP4	HGNC:30267	MGI:2442920	-	-	yes	no	no	no	NA
RAB11FIP5	HGNC:24845	MGI:1098586	-	-	yes	no	no	no	NA
RAB12	HGNC:31332	MGI:894284	-	-	yes	no	no	no	NA
RAB13	HGNC:9762	MGI:1927232	-	-	yes	no	no	no	NA
RAB14	HGNC:16524	MGI:1915615	-	-	no	no	no	no	NA
RAB15	HGNC:20150	MGI:1916865	-	-	yes	no	no	no	NA
RAB17	HGNC:16523	MGI:104640	-	-	yes	no	no	no	NA
RAB18	HGNC:14244	MGI:102790	OMIM:614222|ORPHA:2510	Warburg Micro Syndrome 3|Micro Syndrome	yes	yes	yes	yes	24.155
RAB19	HGNC:19982	MGI:103292	-	-	yes	no	no	no	NA
RAB1A	HGNC:9758	MGI:97842	-	-	yes	no	no	no	NA
RAB1B	HGNC:18370	MGI:1923558	-	-	no	no	no	no	NA
RAB20	HGNC:18260	MGI:102789	-	-	yes	no	no	no	NA
RAB21	HGNC:18263	MGI:894308	-	-	yes	no	no	no	NA
RAB22A	HGNC:9764	MGI:105072	-	-	yes	no	no	no	NA
RAB23	HGNC:14263	MGI:99833	OMIM:201000|ORPHA:65759	Carpenter Syndrome 1|Carpenter Syndrome	yes	yes	yes	yes	22.36
RAB24	HGNC:9765	MGI:105065	-	-	yes	no	no	no	NA
RAB25	HGNC:18238	MGI:1858203	-	-	no	no	no	no	NA
RAB26	HGNC:14259	MGI:2443284	-	-	yes	no	no	no	NA
RAB27A	HGNC:9766	MGI:1861441	OMIM:607624|ORPHA:79477	Griscelli Syndrome, Type 2|Griscelli Syndrome Type 2	yes	yes	yes	yes	58.335
RAB27B	HGNC:9767	MGI:1931295	-	-	yes	no	no	no	NA
RAB28	HGNC:9768	MGI:1917285	OMIM:615374|ORPHA:1872	Cone-Rod Dystrophy 18|Cone Rod Dystrophy	yes	yes	yes	no	NA
RAB29	HGNC:9789	MGI:2385107	-	-	yes	no	no	no	NA
RAB2A	HGNC:9763	MGI:1928750	-	-	yes	no	no	no	NA
RAB2B	HGNC:20246	MGI:1923588	-	-	no	no	no	no	NA
RAB30	HGNC:9770	MGI:1923235	-	-	no	no	no	no	NA
RAB31	HGNC:9771	MGI:1914603	-	-	yes	no	no	no	NA
RAB32	HGNC:9772	MGI:1915094	-	-	yes	no	no	no	NA
RAB33A	HGNC:9773	MGI:109493	-	-	yes	no	no	no	NA
RAB33B	HGNC:16075	MGI:1330805	OMIM:615222|ORPHA:178355	Smith-Mccort Dysplasia 2|Smith-Mccort Dysplasia	yes	yes	yes	no	NA
RAB34	HGNC:16519	MGI:104606	-	-	yes	no	no	no	NA
RAB35	HGNC:9774	MGI:1924657	-	-	yes	no	no	no	NA
RAB36	HGNC:9775	MGI:1924127	-	-	yes	no	no	no	NA
RAB37	HGNC:30268	MGI:1929945	-	-	no	no	no	no	NA
RAB38	HGNC:9776	MGI:1919683	-	-	no	no	no	no	NA
RAB39A	HGNC:16521	MGI:2442855	-	-	yes	no	no	no	NA
RAB39B	HGNC:16499	MGI:1915040	OMIM:300271|OMIM:311510|ORPHA:106|ORPHA:2379|ORPHA:777	Intellectual Developmental Disorder, X-Linked 72|Waisman Syndrome|Non Rare In Europe: Autism|Early-Onset Parkinsonism-Intellectual Disability Syndrome|X-Linked Non-Syndromic Intellectual Disability	yes	yes	yes	yes	41.535
RAB3A	HGNC:9777	MGI:97843	-	-	no	no	no	no	NA
RAB3B	HGNC:9778	MGI:1917158	-	-	no	no	no	no	NA
RAB3C	HGNC:30269	MGI:1914545	-	-	yes	no	no	no	NA
RAB3D	HGNC:9779	MGI:97844	-	-	no	no	no	no	NA
RAB3GAP1	HGNC:17063	MGI:2445001	OMIM:619420|OMIM:600118|ORPHA:1387|ORPHA:2510	Martsolf Syndrome 2|Warburg Micro Syndrome 1|Cataract-Intellectual Disability-Hypogonadism Syndrome|Micro Syndrome	yes	yes	yes	no	NA
RAB3GAP2	HGNC:17168	MGI:1916043	OMIM:212720|OMIM:614225|ORPHA:1387|ORPHA:2510|ORPHA:401830	Martsolf Syndrome 1|Warburg Micro Syndrome 2|Cataract-Intellectual Disability-Hypogonadism Syndrome|Micro Syndrome|Autosomal Recessive Spastic Paraplegia Type 69	yes	yes	yes	yes	41.935
RAB3IL1	HGNC:9780	MGI:1922010	-	-	yes	no	no	no	NA
RAB3IP	HGNC:16508	MGI:105933	-	-	yes	no	no	no	NA
RAB40B	HGNC:18284	MGI:2183451	-	-	yes	no	no	no	NA
RAB40C	HGNC:18285	MGI:2183454	-	-	yes	no	no	no	NA
RAB42	HGNC:28702	MGI:2441753	-	-	no	no	no	no	NA
RAB43	HGNC:19983	MGI:1917084	-	-	yes	no	no	no	NA
RAB44	HGNC:21068	MGI:3045302	-	-	no	no	no	no	NA
RAB4A	HGNC:9781	MGI:105069	-	-	yes	no	no	no	NA
RAB4B	HGNC:9782	MGI:105071	-	-	yes	no	no	no	NA
RAB5A	HGNC:9783	MGI:105926	-	-	yes	no	no	no	NA
RAB5B	HGNC:9784	MGI:105938	-	-	yes	no	no	no	NA
RAB5C	HGNC:9785	MGI:105306	-	-	yes	no	no	no	NA
RAB5IF	HGNC:15870	MGI:1914638	OMIM:616994	Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2	no	no	no	no	NA
RAB6A	HGNC:9786	MGI:894313	-	-	no	no	no	no	NA
RAB6B	HGNC:14902	MGI:107283	-	-	yes	no	no	no	NA
RAB7A	HGNC:9788	MGI:105068	OMIM:600882|ORPHA:99936	Charcot-Marie-Tooth Disease, Axonal, Type 2B|Autosomal Dominant Charcot-Marie-Tooth Disease Type 2B	no	no	no	no	NA
RAB7B	HGNC:30513	MGI:2442295	-	-	no	no	no	no	NA
RAB8A	HGNC:7007	MGI:96960	-	-	yes	no	no	no	NA
RAB8B	HGNC:30273	MGI:2442982	-	-	no	no	no	no	NA
RAB9A	HGNC:9792	MGI:1890695	-	-	yes	no	no	no	NA
RAB9B	HGNC:14090	MGI:2442454	-	-	no	no	no	no	NA
RABAC1	HGNC:9794	MGI:1201692	-	-	yes	no	no	no	NA
RABEP1	HGNC:17677	MGI:1860236	-	-	no	no	no	no	NA
RABEP2	HGNC:24817	MGI:1917564	-	-	no	no	no	no	NA
RABEPK	HGNC:16896	MGI:2139530	-	-	no	no	no	no	NA
RABGAP1	HGNC:17155	MGI:2385139	-	-	yes	no	no	no	NA
RABGAP1L	HGNC:24663	MGI:1352507	-	-	no	no	no	no	NA
RABGEF1	HGNC:17676	MGI:1929459	-	-	no	no	no	no	NA
RABGGTA	HGNC:9795	MGI:1860443	-	-	yes	no	no	no	NA
RABGGTB	HGNC:9796	MGI:99537	-	-	no	no	no	no	NA
RABIF	HGNC:9797	MGI:2138605	-	-	no	no	no	no	NA
RABL3	HGNC:18072	MGI:1914907	OMIM:618680|ORPHA:1333	Pancreatic Cancer, Susceptibility To, 5|Familial Pancreatic Carcinoma	no	no	no	no	NA
RABL6	HGNC:24703	MGI:2442633	-	-	yes	no	no	no	NA
RAC1	HGNC:9801	MGI:97845	OMIM:617751|ORPHA:500159	Intellectual Developmental Disorder, Autosomal Dominant 48|Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	yes	yes	yes	yes	45.445
RAC2	HGNC:9802	MGI:97846	OMIM:618987|OMIM:608203|OMIM:618986|ORPHA:183707	Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia|Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis|Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia|Neutrophil Immunodeficiency Syndrome	yes	yes	yes	yes	17.315
RAC3	HGNC:9803	MGI:2180784	OMIM:618577|ORPHA:528084	Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies|Non-Specific Syndromic Intellectual Disability	no	no	no	no	NA
RACGAP1	HGNC:9804	MGI:1349423	OMIM:619789|ORPHA:98870	Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive|Congenital Dyserythropoietic Anemia Type Iii	no	no	no	no	NA
RACK1	HGNC:4399	MGI:101849	-	-	no	no	no	no	NA
RAD1	HGNC:9806	MGI:1316678	-	-	yes	no	no	no	NA
RAD17	HGNC:9807	MGI:1333807	-	-	no	no	no	no	NA
RAD18	HGNC:18278	MGI:1890476	-	-	yes	no	no	no	NA
RAD21	HGNC:9811	MGI:108016	OMIM:611376|OMIM:614701|ORPHA:199|ORPHA:502	Mungan Syndrome|Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects|Cornelia De Lange Syndrome|Trichorhinophalangeal Syndrome Type 2	no	no	no	no	NA
RAD21L1	HGNC:16271	MGI:3652039	-	-	yes	no	no	no	NA
RAD23A	HGNC:9812	MGI:105126	-	-	no	no	no	no	NA
RAD23B	HGNC:9813	MGI:105128	-	-	no	no	no	no	NA
RAD50	HGNC:9816	MGI:109292	OMIM:613078|ORPHA:145|ORPHA:240760	Nijmegen Breakage Syndrome-Like Disorder|Hereditary Breast And/Or Ovarian Cancer Syndrome	no	no	no	no	NA
RAD51	HGNC:9817	MGI:97890	OMIM:114480|OMIM:617244|OMIM:614508|ORPHA:84|ORPHA:145|ORPHA:238722	Breast Cancer|Fanconi Anemia, Complementation Group R|Mirror Movements 2|Fanconi Anemia|Hereditary Breast And/Or Ovarian Cancer Syndrome|Familial Congenital Mirror Movements	no	no	no	no	NA
RAD51AP1	HGNC:16956	MGI:1098224	-	-	yes	no	no	no	NA
RAD51AP2	HGNC:34417	MGI:3644580	-	-	yes	no	no	no	NA
RAD51B	HGNC:9822	MGI:1099436	-	-	no	no	no	no	NA
RAD51C	HGNC:9820	MGI:2150020	OMIM:613390|OMIM:613399|ORPHA:84|ORPHA:145	Fanconi Anemia, Complementation Group O|Breast-Ovarian Cancer, Familial, Susceptibility To, 3|Fanconi Anemia|Hereditary Breast And/Or Ovarian Cancer Syndrome	no	no	no	no	NA
RAD51D	HGNC:9823	MGI:1261809	OMIM:614291|ORPHA:1331|ORPHA:145	Breast-Ovarian Cancer, Familial, Susceptibility To, 4|Familial Prostate Cancer|Hereditary Breast And/Or Ovarian Cancer Syndrome	no	no	no	no	NA
RAD52	HGNC:9824	MGI:101949	-	-	no	no	no	no	NA
RAD54B	HGNC:17228	MGI:3605986	OMIM:114500|OMIM:605027	Colorectal Cancer|Lymphoma, Non-Hodgkin, Familial	no	no	no	no	NA
RAD54L	HGNC:9826	MGI:894697	OMIM:114480|OMIM:605027|ORPHA:227535	Breast Cancer|Lymphoma, Non-Hodgkin, Familial|Hereditary Breast Cancer	yes	yes	yes	no	NA
RAD54L2	HGNC:29123	MGI:1933196	-	-	yes	no	no	no	NA
RAD9A	HGNC:9827	MGI:1328356	-	-	yes	no	no	no	NA
RAD9B	HGNC:21700	MGI:2385231	-	-	no	no	no	no	NA
RADIL	HGNC:22226	MGI:2443088	-	-	yes	no	no	no	NA
RADX	HGNC:25486	MGI:2147848	-	-	no	no	no	no	NA
RAE1	HGNC:9828	MGI:1913929	-	-	no	no	no	no	NA
RAET1E	HGNC:16793	MGI:2675273	-	-	no	no	no	no	NA
RAF1	HGNC:9829	MGI:97847	OMIM:615916|OMIM:611554|OMIM:611553|ORPHA:648|ORPHA:154|ORPHA:500|ORPHA:251615	Cardiomyopathy, Dilated, 1Nn|Leopard Syndrome 2|Noonan Syndrome 5|Noonan Syndrome|Familial Isolated Dilated Cardiomyopathy|Noonan Syndrome With Multiple Lentigines|Pilomyxoid Astrocytoma	yes	yes	yes	no	NA
RAG1	HGNC:9831	MGI:97848	OMIM:609889|OMIM:233650|OMIM:603554|OMIM:601457|ORPHA:157949|ORPHA:231154|ORPHA:331206|ORPHA:39041	Alpha/Beta T-Cell Lymphopenia With Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, And Autoimmunity|Combined Cellular And Humoral Immune Defects With Granulomas|Omenn Syndrome|Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive|Combined Immunodeficiency With Granulomatosis|Combined Immunodeficiency Due To Partial Rag1 Deficiency|Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	no	no	no	no	NA
RAG2	HGNC:9832	MGI:97849	OMIM:233650|OMIM:603554|OMIM:601457|ORPHA:157949|ORPHA:331206|ORPHA:39041	Combined Cellular And Humoral Immune Defects With Granulomas|Omenn Syndrome|Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive|Combined Immunodeficiency With Granulomatosis|Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	no	no	no	no	NA
RAI1	HGNC:9834	MGI:103291	OMIM:182290|ORPHA:819|ORPHA:1713|ORPHA:477817	Smith-Magenis Syndrome|17P11.2 Microduplication Syndrome|Pmp22-Rai1 Contiguous Gene Duplication Syndrome	no	no	no	no	NA
RAI14	HGNC:14873	MGI:1922896	-	-	yes	no	no	no	NA
RAI2	HGNC:9835	MGI:1344378	-	-	yes	no	no	no	NA
RALA	HGNC:9839	MGI:1927243	OMIM:619311	Hiatt-Neu-Cooper Neurodevelopmental Syndrome	yes	yes	yes	no	NA
RALB	HGNC:9840	MGI:1927244	-	-	yes	no	no	no	NA
RALBP1	HGNC:9841	MGI:108466	-	-	no	no	no	no	NA
RALGAPA1	HGNC:17770	MGI:1931050	OMIM:618797	Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	yes	yes	yes	no	NA
RALGAPA2	HGNC:16207	MGI:3036245	-	-	no	no	no	no	NA
RALGAPB	HGNC:29221	MGI:2444531	-	-	yes	no	no	no	NA
RALGDS	HGNC:9842	MGI:107485	-	-	no	no	no	no	NA
RALGPS1	HGNC:16851	MGI:1922008	-	-	yes	no	no	no	NA
RALGPS2	HGNC:30279	MGI:1925505	-	-	yes	no	no	no	NA
RALY	HGNC:15921	MGI:97850	-	-	yes	no	no	no	NA
RALYL	HGNC:27036	MGI:1924147	-	-	no	no	no	no	NA
RAMAC	HGNC:31022	MGI:1914398	-	-	yes	no	no	no	NA
RAMP1	HGNC:9843	MGI:1858418	-	-	yes	no	no	no	NA
RAMP2	HGNC:9844	MGI:1859650	-	-	no	no	no	no	NA
RAMP3	HGNC:9845	MGI:1860292	-	-	no	no	no	no	NA
RANBP1	HGNC:9847	MGI:96269	-	-	yes	no	no	no	NA
RANBP10	HGNC:29285	MGI:1921584	-	-	yes	no	no	no	NA
RANBP17	HGNC:14428	MGI:1929706	-	-	yes	no	no	no	NA
RANBP2	HGNC:9848	MGI:894323	OMIM:608033|ORPHA:178342|ORPHA:263524|ORPHA:88619	Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3|Inflammatory Myofibroblastic Tumor|Acute Necrotizing Encephalopathy Of Childhood|Familial Acute Necrotizing Encephalopathy	yes	yes	yes	no	NA
RANBP3	HGNC:9850	MGI:1919060	-	-	no	no	no	no	NA
RANBP3L	HGNC:26353	MGI:2444654	-	-	no	no	no	no	NA
RANBP6	HGNC:9851	MGI:2683212	-	-	no	no	no	no	NA
RANBP9	HGNC:13727	MGI:1928741	-	-	no	no	no	no	NA
RANGAP1	HGNC:9854	MGI:103071	-	-	no	no	no	no	NA
RANGRF	HGNC:17679	MGI:1889073	ORPHA:130	Brugada Syndrome	no	no	no	no	NA
RAP1A	HGNC:9855	MGI:97852	-	-	no	no	no	no	NA
RAP1B	HGNC:9857	MGI:894315	-	-	no	no	no	no	NA
RAP1GAP	HGNC:9858	MGI:109338	-	-	yes	no	no	no	NA
RAP1GAP2	HGNC:29176	MGI:3028623	-	-	yes	no	no	no	NA
RAP1GDS1	HGNC:9859	MGI:2385189	-	-	no	no	no	no	NA
RAP2A	HGNC:9861	MGI:97855	-	-	no	no	no	no	NA
RAP2B	HGNC:9862	MGI:1921262	-	-	yes	no	no	no	NA
RAP2C	HGNC:21165	MGI:1919315	-	-	no	no	no	no	NA
RAPGEF1	HGNC:4568	MGI:104580	-	-	yes	no	no	no	NA
RAPGEF2	HGNC:16854	MGI:2659071	OMIM:618075	Epilepsy, Familial Adult Myoclonic, 7	yes	yes	yes	no	NA
RAPGEF3	HGNC:16629	MGI:2441741	-	-	no	no	no	no	NA
RAPGEF4	HGNC:16626	MGI:1917723	-	-	yes	no	no	no	NA
RAPGEF5	HGNC:16862	MGI:2444365	-	-	yes	no	no	no	NA
RAPGEF6	HGNC:20655	MGI:2384761	-	-	no	no	no	no	NA
RAPGEFL1	HGNC:17428	MGI:3611446	-	-	yes	no	no	no	NA
RAPH1	HGNC:14436	MGI:1924550	-	-	yes	no	no	no	NA
RAPSN	HGNC:9863	MGI:99422	OMIM:618388|OMIM:616326|ORPHA:994|ORPHA:33108|ORPHA:98913	Fetal Akinesia Deformation Sequence 2|Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency|Fetal Akinesia Deformation Sequence|Lethal Multiple Pterygium Syndrome|Postsynaptic Congenital Myasthenic Syndromes	yes	yes	yes	no	NA
RARA	HGNC:9864	MGI:97856	OMIM:612376|ORPHA:520	Acute Promyelocytic Leukemia	no	no	no	no	NA
RARB	HGNC:9865	MGI:97857	OMIM:615524|ORPHA:2470	Microphthalmia, Syndromic 12|Matthew-Wood Syndrome	no	no	no	no	NA
RARG	HGNC:9866	MGI:97858	-	-	no	no	no	no	NA
RARRES1	HGNC:9867	MGI:1924461	-	-	no	no	no	no	NA
RARRES2	HGNC:9868	MGI:1918910	-	-	no	no	no	no	NA
RARS1	HGNC:9870	MGI:1914297	OMIM:616140|ORPHA:438114	Leukodystrophy, Hypomyelinating, 9|Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy	yes	yes	yes	no	NA
RARS2	HGNC:21406	MGI:1923596	OMIM:611523|ORPHA:166073	Pontocerebellar Hypoplasia, Type 6|Pontocerebellar Hypoplasia Type 6	yes	no	yes	no	NA
RASA1	HGNC:9871	MGI:97860	OMIM:605462|OMIM:608354|ORPHA:137667|ORPHA:90307	Basal Cell Carcinoma, Susceptibility To, 1|Capillary Malformation-Arteriovenous Malformation 1|Capillary Malformation-Arteriovenous Malformation|Parkes Weber Syndrome	yes	yes	yes	yes	20.88
RASA2	HGNC:9872	MGI:2149960	ORPHA:648	Noonan Syndrome	no	no	no	no	NA
RASA3	HGNC:20331	MGI:1197013	-	-	yes	no	no	no	NA
RASAL1	HGNC:9873	MGI:1330842	-	-	yes	no	no	no	NA
RASAL2	HGNC:9874	MGI:2443881	-	-	yes	no	no	no	NA
RASAL3	HGNC:26129	MGI:2444128	-	-	yes	no	no	no	NA
RASD1	HGNC:15828	MGI:1270848	-	-	yes	no	no	no	NA
RASD2	HGNC:18229	MGI:1922391	-	-	no	no	no	no	NA
RASEF	HGNC:26464	MGI:2448565	-	-	no	no	no	no	NA
RASGEF1A	HGNC:24246	MGI:1917977	-	-	yes	no	no	no	NA
RASGEF1B	HGNC:24881	MGI:2443755	-	-	yes	no	no	no	NA
RASGEF1C	HGNC:27400	MGI:1921813	-	-	yes	no	no	no	NA
RASGRF1	HGNC:9875	MGI:99694	-	-	yes	no	no	no	NA
RASGRF2	HGNC:9876	MGI:109137	-	-	no	no	no	no	NA
RASGRP1	HGNC:9878	MGI:1314635	OMIM:618534|ORPHA:3261	Immunodeficiency 64 With Lymphoproliferation|Autoimmune Lymphoproliferative Syndrome	no	no	no	no	NA
RASGRP2	HGNC:9879	MGI:1333849	OMIM:615888|ORPHA:420566	Bleeding Disorder, Platelet-Type, 18|Bleeding Disorder Due To Caldag-Gefi Deficiency	no	no	no	no	NA
RASGRP3	HGNC:14545	MGI:3028579	-	-	yes	no	no	no	NA
RASGRP4	HGNC:18958	MGI:2386851	-	-	yes	no	no	no	NA
RASIP1	HGNC:24716	MGI:1917153	-	-	no	no	no	no	NA
RASL10A	HGNC:16954	MGI:1922918	-	-	no	no	no	no	NA
RASL10B	HGNC:30295	MGI:2685575	-	-	no	no	no	no	NA
RASL11A	HGNC:23802	MGI:1916145	-	-	no	no	no	no	NA
RASL11B	HGNC:23804	MGI:1916189	-	-	no	no	no	no	NA
RASL12	HGNC:30289	MGI:1918034	-	-	no	no	no	no	NA
RASSF1	HGNC:9882	MGI:1928386	-	-	yes	no	no	no	NA
RASSF10	HGNC:33984	MGI:1925998	-	-	yes	no	no	no	NA
RASSF2	HGNC:9883	MGI:2442060	-	-	no	no	no	no	NA
RASSF3	HGNC:14271	MGI:2179722	-	-	no	no	no	no	NA
RASSF4	HGNC:20793	MGI:2386853	-	-	no	no	no	no	NA
RASSF5	HGNC:17609	MGI:1926375	-	-	no	no	no	no	NA
RASSF6	HGNC:20796	MGI:1920496	-	-	no	no	no	no	NA
RASSF7	HGNC:1166	MGI:1914235	-	-	no	no	no	no	NA
RASSF8	HGNC:13232	MGI:1918573	-	-	yes	no	no	no	NA
RASSF9	HGNC:15739	MGI:2384307	-	-	no	no	no	no	NA
RAVER1	HGNC:30296	MGI:1919016	-	-	yes	no	no	no	NA
RAVER2	HGNC:25577	MGI:2443623	-	-	yes	no	no	no	NA
RAX	HGNC:18662	MGI:109632	OMIM:611038|ORPHA:35612|ORPHA:98938	Microphthalmia, Syndromic 16|Nanophthalmos|Colobomatous Microphthalmia	no	no	no	no	NA
RB1	HGNC:9884	MGI:97874	OMIM:109800|OMIM:259500|OMIM:180200|OMIM:182280|ORPHA:1587|ORPHA:668|ORPHA:357034|ORPHA:357027|ORPHA:70573	Bladder Cancer|Osteogenic Sarcoma|Retinoblastoma|Small Cell Cancer Of The Lung|Monosomy 13Q14|Osteosarcoma|Non-Hereditary Retinoblastoma|Hereditary Retinoblastoma|Small Cell Lung Cancer	no	no	no	no	NA
RB1CC1	HGNC:15574	MGI:1341850	OMIM:114480	Breast Cancer	yes	yes	yes	no	NA
RBAK	HGNC:17680	MGI:1927369	-	-	yes	no	no	no	NA
RBBP4	HGNC:9887	MGI:1194912	-	-	yes	no	no	no	NA
RBBP5	HGNC:9888	MGI:1918367	-	-	no	no	no	no	NA
RBBP6	HGNC:9889	MGI:894835	-	-	no	no	no	no	NA
RBBP7	HGNC:9890	MGI:1194910	-	-	no	no	no	no	NA
RBBP8	HGNC:9891	MGI:2442995	OMIM:251255|OMIM:606744|ORPHA:808|ORPHA:313795	Jawad Syndrome|Seckel Syndrome 2|Seckel Syndrome	no	no	no	no	NA
RBBP8NL	HGNC:16144	MGI:3606212	-	-	yes	no	no	no	NA
RBBP9	HGNC:9892	MGI:1347074	-	-	no	no	no	no	NA
RBCK1	HGNC:15864	MGI:1344372	OMIM:615895|ORPHA:329173|ORPHA:397937	Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency|Autoinflammatory Syndrome With Pyogenic Bacterial Infection And Amylopectinosis|Polyglucosan Body Myopathy Type 1	yes	yes	yes	no	NA
RBFA	HGNC:26120	MGI:1915981	-	-	no	no	no	no	NA
RBFOX1	HGNC:18222	MGI:1926224	-	-	yes	no	no	no	NA
RBFOX2	HGNC:9906	MGI:1933973	-	-	no	no	no	no	NA
RBFOX3	HGNC:27097	MGI:106368	-	-	yes	no	no	no	NA
RBIS	HGNC:32235	MGI:1916376	-	-	no	no	no	no	NA
RBKS	HGNC:30325	MGI:1918586	-	-	no	no	no	no	NA
RBL1	HGNC:9893	MGI:103300	-	-	yes	no	no	no	NA
RBL2	HGNC:9894	MGI:105085	OMIM:619690	Brunet-Wagner Neurodevelopmental Syndrome	yes	yes	yes	yes	29.255
RBM10	HGNC:9896	MGI:2384310	OMIM:311900|ORPHA:2886	Tarp Syndrome	yes	yes	yes	yes	23.35
RBM11	HGNC:9897	MGI:2447622	-	-	yes	no	no	no	NA
RBM12	HGNC:9898	MGI:1922960	OMIM:617629	Schizophrenia 19	no	no	no	no	NA
RBM14	HGNC:14219	MGI:1929092	-	-	yes	no	no	no	NA
RBM15	HGNC:14959	MGI:2443205	ORPHA:402023	Megakaryoblastic Acute Myeloid Leukemia With T(1;22)(P13;Q13)	no	no	no	no	NA
RBM15B	HGNC:24303	MGI:1923598	-	-	no	no	no	no	NA
RBM17	HGNC:16944	MGI:1924188	-	-	no	no	no	no	NA
RBM18	HGNC:28413	MGI:1915139	-	-	no	no	no	no	NA
RBM19	HGNC:29098	MGI:1921361	-	-	no	no	no	no	NA
RBM20	HGNC:27424	MGI:1920963	OMIM:613172|ORPHA:154	Cardiomyopathy, Dilated, 1Dd|Familial Isolated Dilated Cardiomyopathy	yes	yes	yes	yes	30.545
RBM22	HGNC:25503	MGI:1914060	-	-	yes	no	no	no	NA
RBM24	HGNC:21539	MGI:3610364	-	-	no	no	no	no	NA
RBM25	HGNC:23244	MGI:1914289	-	-	yes	no	no	no	NA
RBM26	HGNC:20327	MGI:1921463	-	-	yes	no	no	no	NA
RBM27	HGNC:29243	MGI:2147194	-	-	no	no	no	no	NA
RBM28	HGNC:21863	MGI:2655711	OMIM:612079|ORPHA:157954	Alopecia, Neurologic Defects, And Endocrinopathy Syndrome|Ane Syndrome	no	no	no	no	NA
RBM3	HGNC:9900	MGI:1099460	-	-	yes	no	no	no	NA
RBM33	HGNC:27223	MGI:1919670	-	-	yes	no	no	no	NA
RBM34	HGNC:28965	MGI:1098653	-	-	yes	no	no	no	NA
RBM38	HGNC:15818	MGI:1889294	-	-	no	no	no	no	NA
RBM39	HGNC:15923	MGI:2157953	-	-	no	no	no	no	NA
RBM4	HGNC:9901	MGI:1100865	-	-	yes	no	no	no	NA
RBM41	HGNC:25617	MGI:2444923	-	-	no	no	no	no	NA
RBM42	HGNC:28117	MGI:1915285	-	-	no	no	no	no	NA
RBM43	HGNC:24790	MGI:1918934	-	-	no	no	no	no	NA
RBM44	HGNC:24756	MGI:2685663	-	-	no	no	no	no	NA
RBM45	HGNC:24468	MGI:2387367	-	-	yes	no	no	no	NA
RBM46	HGNC:28401	MGI:3645057	-	-	no	no	no	no	NA
RBM47	HGNC:30358	MGI:2384294	-	-	yes	no	no	no	NA
RBM48	HGNC:21785	MGI:2442653	-	-	yes	no	no	no	NA
RBM4B	HGNC:28842	MGI:1913954	-	-	yes	no	no	no	NA
RBM5	HGNC:9902	MGI:1933204	-	-	no	no	no	no	NA
RBM6	HGNC:9903	MGI:1338037	-	-	yes	no	no	no	NA
RBM7	HGNC:9904	MGI:1914260	-	-	no	no	no	no	NA
RBM8A	HGNC:9905	MGI:1913129	OMIM:274000|ORPHA:3320	Thrombocytopenia-Absent Radius Syndrome	no	no	no	no	NA
RBMS1	HGNC:9907	MGI:1861774	-	-	yes	no	no	no	NA
RBMS2	HGNC:9909	MGI:1861776	-	-	no	no	no	no	NA
RBMS3	HGNC:13427	MGI:2444477	-	-	no	no	no	no	NA
RBMX	HGNC:9910	MGI:1343044	OMIM:300238	Intellectual Developmental Disorder, X-Linked, Syndromic 11	yes	yes	yes	no	NA
RBMX2	HGNC:24282	MGI:1919414	-	-	no	no	no	no	NA
RBMXL2	HGNC:17886	MGI:1923822	-	-	no	no	no	no	NA
RBP1	HGNC:9919	MGI:97876	-	-	yes	no	no	no	NA
RBP2	HGNC:9920	MGI:97877	-	-	no	no	no	no	NA
RBP3	HGNC:9921	MGI:97878	OMIM:615233|ORPHA:791	Retinitis Pigmentosa 66|Retinitis Pigmentosa	no	no	no	no	NA
RBP4	HGNC:9922	MGI:97879	OMIM:616428|OMIM:615147|ORPHA:352718|ORPHA:98938	Microphthalmia, Isolated, With Coloboma 10|Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome|Progressive Retinal Dystrophy Due To Retinol Transport Defect|Colobomatous Microphthalmia	yes	yes	yes	yes	38.86
RBP7	HGNC:30316	MGI:1890409	-	-	no	no	no	no	NA
RBPJ	HGNC:5724	MGI:96522	OMIM:614814|ORPHA:974	Adams-Oliver Syndrome 3|Adams-Oliver Syndrome	yes	yes	yes	no	NA
RBPJL	HGNC:13761	MGI:1196616	-	-	yes	no	no	no	NA
RBPMS	HGNC:19097	MGI:1334446	-	-	yes	no	no	no	NA
RBPMS2	HGNC:19098	MGI:1919223	-	-	yes	no	no	no	NA
RBSN	HGNC:20759	MGI:1925537	ORPHA:369852	Congenital Neutropenia-Myelofibrosis-Nephromegaly Syndrome	yes	yes	no	no	NA
RBX1	HGNC:9928	MGI:1891829	-	-	no	no	no	no	NA
RC3H1	HGNC:29434	MGI:2685397	OMIM:618998	Immune Dysregulation And Systemic Hyperinflammation Syndrome	no	no	no	no	NA
RC3H2	HGNC:21461	MGI:2442789	-	-	yes	no	no	no	NA
RCAN1	HGNC:3040	MGI:1890564	-	-	yes	no	no	no	NA
RCAN2	HGNC:3041	MGI:1858219	-	-	no	no	no	no	NA
RCAN3	HGNC:3042	MGI:1858220	-	-	yes	no	no	no	NA
RCBTB1	HGNC:18243	MGI:1918580	OMIM:617175|ORPHA:99002	Retinal Dystrophy With Or Without Extraocular Anomalies|Reticular Dystrophy Of The Retinal Pigment Epithelium	no	no	no	no	NA
RCBTB2	HGNC:1914	MGI:1917200	-	-	no	no	no	no	NA
RCC1	HGNC:1913	MGI:1913989	-	-	yes	no	no	no	NA
RCC1L	HGNC:14948	MGI:2137600	-	-	yes	no	no	no	NA
RCC2	HGNC:30297	MGI:1919784	-	-	yes	no	no	no	NA
RCCD1	HGNC:30457	MGI:2444156	-	-	yes	no	no	no	NA
RCE1	HGNC:13721	MGI:1336895	-	-	no	no	no	no	NA
RCHY1	HGNC:17479	MGI:1915348	-	-	no	no	no	no	NA
RCL1	HGNC:17687	MGI:1913275	-	-	no	no	no	no	NA
RCN1	HGNC:9934	MGI:104559	-	-	yes	no	no	no	NA
RCN2	HGNC:9935	MGI:1349765	-	-	yes	no	no	no	NA
RCN3	HGNC:21145	MGI:1277122	-	-	yes	no	no	no	NA
RCOR1	HGNC:17441	MGI:106340	-	-	no	no	no	no	NA
RCOR2	HGNC:27455	MGI:1859854	-	-	yes	no	no	no	NA
RCOR3	HGNC:25594	MGI:2441920	-	-	yes	no	no	no	NA
RCSD1	HGNC:28310	MGI:2676394	-	-	no	no	no	no	NA
RCVRN	HGNC:9937	MGI:97883	-	-	no	no	no	no	NA
RD3	HGNC:19689	MGI:1921273	OMIM:610612|ORPHA:65	Leber Congenital Amaurosis 12|Leber Congenital Amaurosis	yes	yes	yes	yes	63.17
RD3L	HGNC:40912	MGI:2675860	-	-	no	no	no	no	NA
RDH10	HGNC:19975	MGI:1924238	-	-	no	no	no	no	NA
RDH11	HGNC:17964	MGI:102581	OMIM:616108|ORPHA:436245	Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome|Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	no	no	no	no	NA
RDH12	HGNC:19977	MGI:1925224	OMIM:612712|ORPHA:791|ORPHA:65	Leber Congenital Amaurosis 13|Retinitis Pigmentosa|Leber Congenital Amaurosis	no	no	no	no	NA
RDH13	HGNC:19978	MGI:1918732	-	-	no	no	no	no	NA
RDH14	HGNC:19979	MGI:1920402	-	-	no	no	no	no	NA
RDH5	HGNC:9940	MGI:1201412	OMIM:136880|ORPHA:227796|ORPHA:52427	Fundus Albipunctatus|Retinitis Punctata Albescens	no	no	no	no	NA
RDH8	HGNC:14423	MGI:2685028	-	-	no	no	no	no	NA
RDM1	HGNC:19950	MGI:1913849	-	-	no	no	no	no	NA
RDX	HGNC:9944	MGI:97887	OMIM:611022|ORPHA:90636	Deafness, Autosomal Recessive 24|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	yes	yes	yes	no	NA
REC114	HGNC:25065	MGI:1920923	OMIM:619176	Oocyte/Zygote/Embryo Maturation Arrest 10	no	no	no	no	NA
REC8	HGNC:16879	MGI:1929645	-	-	yes	no	no	no	NA
RECK	HGNC:11345	MGI:1855698	-	-	no	no	no	no	NA
RECQL	HGNC:9948	MGI:103021	OMIM:620370	Recon Progeroid Syndrome	no	no	no	no	NA
RECQL4	HGNC:9949	MGI:1931028	OMIM:218600|OMIM:266280|OMIM:268400|ORPHA:1225|ORPHA:3021|ORPHA:221016	Baller-Gerold Syndrome|Rapadilino Syndrome|Rothmund-Thomson Syndrome, Type 2|Rothmund-Thomson Syndrome Type 2	yes	yes	yes	yes	19.735
RECQL5	HGNC:9950	MGI:2156841	-	-	no	no	no	no	NA
REDIC1	HGNC:26846	MGI:3613655	-	-	no	no	no	no	NA
REEP1	HGNC:25786	MGI:1098827	OMIM:614751|OMIM:620011|OMIM:610250|ORPHA:139536|ORPHA:101011	Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12|Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6|Spastic Paraplegia 31, Autosomal Dominant|Distal Hereditary Motor Neuropathy Type 5|Autosomal Dominant Spastic Paraplegia Type 31	no	no	no	no	NA
REEP2	HGNC:17975	MGI:2385070	OMIM:615625|ORPHA:401849	Spastic Paraplegia 72, Autosomal Recessive|Autosomal Spastic Paraplegia Type 72	no	no	no	no	NA
REEP3	HGNC:23711	MGI:88930	-	-	no	no	no	no	NA
REEP4	HGNC:26176	MGI:1919799	-	-	no	no	no	no	NA
REEP5	HGNC:30077	MGI:1270152	-	-	no	no	no	no	NA
REEP6	HGNC:30078	MGI:1917585	OMIM:617304|ORPHA:791	Retinitis Pigmentosa 77|Retinitis Pigmentosa	no	no	no	no	NA
REG3G	HGNC:29595	MGI:109406	-	-	yes	no	no	no	NA
REG4	HGNC:22977	MGI:1914959	-	-	yes	no	no	no	NA
REL	HGNC:9954	MGI:97897	OMIM:619652	Immunodeficiency 92	yes	yes	yes	yes	28.655
RELA	HGNC:9955	MGI:103290	OMIM:618287|ORPHA:251636|ORPHA:476102|ORPHA:530792	Autoinflammatory Disease, Familial, Behcet-Like 3|Ependymoma|Hereditary Pediatric Behçet-Like Disease|Rela Fusion-Positive Ependymoma	no	no	no	no	NA
RELB	HGNC:9956	MGI:103289	OMIM:617585	Immunodeficiency 53	no	no	no	no	NA
RELCH	HGNC:29289	MGI:1922832	-	-	yes	no	no	no	NA
RELL1	HGNC:27379	MGI:2140767	-	-	yes	no	no	no	NA
RELL2	HGNC:26902	MGI:1918044	-	-	no	no	no	no	NA
RELN	HGNC:9957	MGI:103022	OMIM:257320|OMIM:616436|ORPHA:89844|ORPHA:101046	Lissencephaly 2|Epilepsy, Familial Temporal Lobe, 7|Lissencephaly Syndrome, Norman-Roberts Type|Autosomal Dominant Epilepsy With Auditory Features	yes	yes	yes	yes	37.675
RELT	HGNC:13764	MGI:2443373	OMIM:618386|ORPHA:100031	Amelogenesis Imperfecta, Type Iiic|Hypoplastic Amelogenesis Imperfecta	no	no	no	no	NA
REM1	HGNC:15922	MGI:1097696	-	-	no	no	no	no	NA
REM2	HGNC:20248	MGI:2155260	-	-	no	no	no	no	NA
REN	HGNC:9958	MGI:97898	OMIM:267430|OMIM:613092|ORPHA:217330|ORPHA:97369	Renal Tubular Dysgenesis|Tubulointerstitial Kidney Disease, Autosomal Dominant, 4|Ren-Related Autosomal Dominant Tubulointerstitial Kidney Disease|Renal Tubular Dysgenesis Of Genetic Origin	yes	no	yes	no	NA
RENBP	HGNC:9959	MGI:105940	-	-	no	no	no	no	NA
REP15	HGNC:33748	MGI:1913782	-	-	yes	no	no	no	NA
REPIN1	HGNC:17922	MGI:1889817	-	-	yes	no	no	no	NA
REPS1	HGNC:15578	MGI:1196373	OMIM:617916	Neurodegeneration With Brain Iron Accumulation 7	no	no	no	no	NA
REPS2	HGNC:9963	MGI:2663511	-	-	yes	no	no	no	NA
RER1	HGNC:30309	MGI:1915080	-	-	yes	no	no	no	NA
RERE	HGNC:9965	MGI:2683486	OMIM:616975|ORPHA:1606|ORPHA:494344	Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart|1P36 Deletion Syndrome|Rere-Related Neurodevelopmental Syndrome	yes	yes	yes	no	NA
RERG	HGNC:15980	MGI:2665139	-	-	no	no	no	no	NA
RERGL	HGNC:26213	MGI:3642998	-	-	yes	no	no	no	NA
RESF1	HGNC:25559	MGI:1914496	-	-	yes	no	no	no	NA
RESP18	HGNC:33762	MGI:1098222	-	-	yes	no	no	no	NA
REST	HGNC:9966	MGI:104897	OMIM:612431|OMIM:617626|OMIM:616806|ORPHA:654|ORPHA:2024	Deafness, Autosomal Dominant 27|Fibromatosis, Gingival, 5|Wilms Tumor 6|Nephroblastoma|Hereditary Gingival Fibromatosis	yes	yes	yes	yes	35.585
RET	HGNC:9967	MGI:97902	OMIM:155240|OMIM:171400|OMIM:162300|OMIM:171300|OMIM:142623|ORPHA:388|ORPHA:146|ORPHA:247709|ORPHA:247698|ORPHA:1848|ORPHA:276621|ORPHA:29072|ORPHA:93100|ORPHA:99361|ORPHA:99803	Thyroid Carcinoma, Familial Medullary|Multiple Endocrine Neoplasia, Type Iia|Multiple Endocrine Neoplasia, Type Iib|Pheochromocytoma|Hirschsprung Disease, Susceptibility To, 1|Hirschsprung Disease|Differentiated Thyroid Carcinoma|Multiple Endocrine Neoplasia Type 2B|Multiple Endocrine Neoplasia Type 2A|Renal Agenesis, Bilateral|Sporadic Pheochromocytoma/Secreting Paraganglioma|Hereditary Pheochromocytoma-Paraganglioma|Renal Agenesis, Unilateral|Familial Medullary Thyroid Carcinoma|Haddad Syndrome	no	no	no	no	NA
RETN	HGNC:20389	MGI:1888506	OMIM:125853	Type 2 Diabetes Mellitus	no	no	no	no	NA
RETREG1	HGNC:25964	MGI:1913520	OMIM:613115|ORPHA:970	Neuropathy, Hereditary Sensory And Autonomic, Type Iib|Hereditary Sensory And Autonomic Neuropathy Type 2	yes	yes	yes	no	NA
RETREG2	HGNC:28450	MGI:2388278	-	-	yes	no	no	no	NA
RETREG3	HGNC:27258	MGI:1915248	-	-	yes	no	no	no	NA
RETSAT	HGNC:25991	MGI:1914692	-	-	yes	no	no	no	NA
REV1	HGNC:14060	MGI:1929074	-	-	no	no	no	no	NA
REV3L	HGNC:9968	MGI:1337131	ORPHA:570	Moebius Syndrome	yes	yes	yes	yes	27.535
REX1BD	HGNC:26098	MGI:1913712	-	-	yes	no	no	no	NA
REXO1	HGNC:24616	MGI:1914182	-	-	yes	no	no	no	NA
REXO2	HGNC:17851	MGI:1888981	-	-	yes	no	no	no	NA
REXO4	HGNC:12820	MGI:2684957	-	-	yes	no	no	no	NA
REXO5	HGNC:24661	MGI:1919402	-	-	no	no	no	no	NA
RFC1	HGNC:9969	MGI:97891	OMIM:614575|ORPHA:504476	Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome|Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	yes	yes	yes	no	NA
RFC2	HGNC:9970	MGI:1341868	ORPHA:904	Williams Syndrome	yes	yes	yes	no	NA
RFC3	HGNC:9971	MGI:1916513	-	-	no	no	no	no	NA
RFC4	HGNC:9972	MGI:2146571	-	-	no	no	no	no	NA
RFC5	HGNC:9973	MGI:1919401	-	-	yes	no	no	no	NA
RFESD	HGNC:29587	MGI:2145198	-	-	no	no	no	no	NA
RFFL	HGNC:24821	MGI:1914588	-	-	yes	no	no	no	NA
RFK	HGNC:30324	MGI:1914688	-	-	yes	no	no	no	NA
RFLNA	HGNC:27051	MGI:1920371	-	-	no	no	no	no	NA
RFLNB	HGNC:28705	MGI:1923816	-	-	no	no	no	no	NA
RFNG	HGNC:9974	MGI:894275	-	-	no	no	no	no	NA
RFPL4B	HGNC:33264	MGI:2684908	-	-	no	no	no	no	NA
RFT1	HGNC:30220	MGI:3607791	OMIM:612015|ORPHA:244310	Congenital Disorder Of Glycosylation, Type In|Rft1-Cdg	yes	yes	yes	yes	26.11
RFTN1	HGNC:30278	MGI:1923688	-	-	no	no	no	no	NA
RFTN2	HGNC:26402	MGI:1921263	-	-	yes	no	no	no	NA
RFWD3	HGNC:25539	MGI:2384584	OMIM:617784|ORPHA:84	Fanconi Anemia, Complementation Group W|Fanconi Anemia	no	no	no	no	NA
RFX1	HGNC:9982	MGI:105982	-	-	no	no	no	no	NA
RFX2	HGNC:9983	MGI:106583	-	-	no	no	no	no	NA
RFX3	HGNC:9984	MGI:106582	-	-	no	no	no	no	NA
RFX4	HGNC:9985	MGI:1918387	-	-	no	no	no	no	NA
RFX5	HGNC:9986	MGI:1858421	OMIM:209920|ORPHA:572	Bare Lymphocyte Syndrome, Type Ii|Immunodeficiency By Defective Expression Of Mhc Class Ii	no	no	no	no	NA
RFX6	HGNC:21478	MGI:2445208	OMIM:615710|ORPHA:293864	Mitchell-Riley Syndrome|Hypoplastic Pancreas-Intestinal Atresia-Hypoplastic Gallbladder Syndrome	yes	yes	yes	yes	34.685
RFX7	HGNC:25777	MGI:2442675	OMIM:620330	Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	yes	yes	yes	yes	30.38
RFX8	HGNC:37253	MGI:3588206	-	-	yes	no	no	no	NA
RFXANK	HGNC:9987	MGI:1333865	OMIM:209920|ORPHA:572	Bare Lymphocyte Syndrome, Type Ii|Immunodeficiency By Defective Expression Of Mhc Class Ii	yes	yes	yes	yes	26.77
RFXAP	HGNC:9988	MGI:2180854	OMIM:209920|ORPHA:572	Bare Lymphocyte Syndrome, Type Ii|Immunodeficiency By Defective Expression Of Mhc Class Ii	yes	yes	yes	no	NA
RGCC	HGNC:20369	MGI:1913464	-	-	yes	no	no	no	NA
RGL1	HGNC:30281	MGI:107484	-	-	yes	no	no	no	NA
RGL2	HGNC:9769	MGI:107483	-	-	no	no	no	no	NA
RGL3	HGNC:30282	MGI:1918996	-	-	yes	no	no	no	NA
RGMA	HGNC:30308	MGI:2679262	-	-	no	no	no	no	NA
RGMB	HGNC:26896	MGI:1916049	-	-	no	no	no	no	NA
RGN	HGNC:9989	MGI:108024	-	-	no	no	no	no	NA
RGP1	HGNC:21965	MGI:1915956	-	-	yes	no	no	no	NA
RGR	HGNC:9990	MGI:1929473	OMIM:613769|ORPHA:791	Retinitis Pigmentosa 44|Retinitis Pigmentosa	no	no	no	no	NA
RGS1	HGNC:9991	MGI:1354694	-	-	no	no	no	no	NA
RGS10	HGNC:9992	MGI:1915115	-	-	no	no	no	no	NA
RGS11	HGNC:9993	MGI:1354739	-	-	no	no	no	no	NA
RGS12	HGNC:9994	MGI:1918979	-	-	no	no	no	no	NA
RGS13	HGNC:9995	MGI:2180585	-	-	no	no	no	no	NA
RGS14	HGNC:9996	MGI:1859709	-	-	no	no	no	no	NA
RGS16	HGNC:9997	MGI:108407	-	-	no	no	no	no	NA
RGS17	HGNC:14088	MGI:1927469	-	-	no	no	no	no	NA
RGS18	HGNC:14261	MGI:1927498	-	-	no	no	no	no	NA
RGS19	HGNC:13735	MGI:1915153	-	-	yes	no	no	no	NA
RGS2	HGNC:9998	MGI:1098271	-	-	yes	no	no	no	NA
RGS20	HGNC:14600	MGI:1929866	-	-	yes	no	no	no	NA
RGS21	HGNC:26839	MGI:3645243	-	-	no	no	no	no	NA
RGS22	HGNC:24499	MGI:3613651	-	-	yes	no	no	no	NA
RGS3	HGNC:9999	MGI:1354734	-	-	no	no	no	no	NA
RGS4	HGNC:10000	MGI:108409	-	-	yes	no	no	no	NA
RGS5	HGNC:10001	MGI:1098434	OMIM:145500	Hypertension, Essential	yes	no	yes	no	NA
RGS6	HGNC:10002	MGI:1354730	-	-	no	no	no	no	NA
RGS7	HGNC:10003	MGI:1346089	-	-	no	no	no	no	NA
RGS7BP	HGNC:23271	MGI:106334	-	-	no	no	no	no	NA
RGS8	HGNC:16810	MGI:108408	-	-	yes	no	no	no	NA
RGS9	HGNC:10004	MGI:1338824	OMIM:608415|ORPHA:75374	Prolonged Electroretinal Response Suppression 1|Bradyopsia	no	no	no	no	NA
RGS9BP	HGNC:30304	MGI:2384418	OMIM:620344|ORPHA:75374	Prolonged Electroretinal Response Suppression 2|Bradyopsia	no	no	no	no	NA
RGSL1	HGNC:18636	MGI:2685048	-	-	yes	no	no	no	NA
RHAG	HGNC:10006	MGI:1202713	OMIM:268150|OMIM:185000|ORPHA:3203|ORPHA:71275	Rh-Null, Regulator Type|Overhydrated Hereditary Stomatocytosis|Rh Deficiency Syndrome	yes	yes	yes	yes	46.985
RHBDD1	HGNC:23081	MGI:1924117	-	-	yes	no	no	no	NA
RHBDD2	HGNC:23082	MGI:1915612	-	-	no	no	no	no	NA
RHBDD3	HGNC:1308	MGI:2444684	-	-	no	no	no	no	NA
RHBDF1	HGNC:20561	MGI:104328	-	-	yes	no	no	no	NA
RHBDF2	HGNC:20788	MGI:2442473	OMIM:148500|ORPHA:2198	Tylosis With Esophageal Cancer|Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	yes	yes	yes	no	NA
RHBDL1	HGNC:10007	MGI:2384891	-	-	yes	no	no	no	NA
RHBDL2	HGNC:16083	MGI:3608413	-	-	yes	no	no	no	NA
RHBDL3	HGNC:16502	MGI:2179276	-	-	yes	no	no	no	NA
RHBG	HGNC:14572	MGI:1927379	-	-	yes	no	no	no	NA
RHCG	HGNC:18140	MGI:1888517	-	-	no	no	no	no	NA
RHEB	HGNC:10011	MGI:97912	-	-	no	no	no	no	NA
RHEBL1	HGNC:21166	MGI:1916409	-	-	no	no	no	no	NA
RHNO1	HGNC:28206	MGI:1915315	-	-	no	no	no	no	NA
RHO	HGNC:10012	MGI:97914	OMIM:136880|OMIM:610445|OMIM:613731|ORPHA:791|ORPHA:215|ORPHA:52427	Fundus Albipunctatus|Night Blindness, Congenital Stationary, Autosomal Dominant 1|Retinitis Pigmentosa 4|Retinitis Pigmentosa|Congenital Stationary Night Blindness|Retinitis Punctata Albescens	no	no	no	no	NA
RHOA	HGNC:667	MGI:1096342	OMIM:618727|ORPHA:589608	Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies|Linear Hypopigmentation And Craniofacial Asymmetry With Acral, Ocular And Brain Anomalies	no	no	no	no	NA
RHOB	HGNC:668	MGI:107949	-	-	no	no	no	no	NA
RHOBTB1	HGNC:18738	MGI:1916538	-	-	yes	no	no	no	NA
RHOBTB2	HGNC:18756	MGI:2180557	OMIM:618004	Developmental And Epileptic Encephalopathy 64	no	no	no	no	NA
RHOBTB3	HGNC:18757	MGI:1920546	-	-	yes	no	no	no	NA
RHOC	HGNC:669	MGI:106028	-	-	no	no	no	no	NA
RHOD	HGNC:670	MGI:108446	-	-	no	no	no	no	NA
RHOF	HGNC:15703	MGI:1345629	-	-	no	no	no	no	NA
RHOG	HGNC:672	MGI:1928370	-	-	no	no	no	no	NA
RHOH	HGNC:686	MGI:1921984	OMIM:618307|ORPHA:324294	Epidermodysplasia Verruciformis, Susceptibility To, 4|T-Cell Immunodeficiency With Epidermodysplasia Verruciformis	yes	no	yes	no	NA
RHOJ	HGNC:688	MGI:1931551	-	-	no	no	no	no	NA
RHOQ	HGNC:17736	MGI:1931553	-	-	yes	no	no	no	NA
RHOT1	HGNC:21168	MGI:1926078	-	-	yes	no	no	no	NA
RHOT2	HGNC:21169	MGI:2384892	-	-	yes	no	no	no	NA
RHOU	HGNC:17794	MGI:1916831	-	-	yes	no	no	no	NA
RHOV	HGNC:18313	MGI:2444227	-	-	no	no	no	no	NA
RHPN1	HGNC:19973	MGI:1098783	-	-	yes	no	no	no	NA
RHPN2	HGNC:19974	MGI:1289234	-	-	no	no	no	no	NA
RIBC1	HGNC:26537	MGI:1913861	-	-	no	no	no	no	NA
RIBC2	HGNC:13241	MGI:1914997	-	-	yes	no	no	no	NA
RIC1	HGNC:17686	MGI:1924893	OMIM:618761|ORPHA:199306	Catifa Syndrome|Cleft Lip/Palate	yes	yes	yes	no	NA
RIC3	HGNC:30338	MGI:2443887	-	-	no	no	no	no	NA
RIC8A	HGNC:29550	MGI:2141866	-	-	yes	no	no	no	NA
RIC8B	HGNC:25555	MGI:2682307	-	-	yes	no	no	no	NA
RICTOR	HGNC:28611	MGI:1926007	-	-	no	no	no	no	NA
RIDA	HGNC:16897	MGI:1095401	-	-	yes	no	no	no	NA
RIF1	HGNC:23207	MGI:1098622	-	-	no	no	no	no	NA
RIGI	HGNC:19102	MGI:2442858	OMIM:616298|ORPHA:85191	Singleton-Merten Syndrome 2|Singleton-Merten Dysplasia	yes	yes	yes	no	NA
RIIAD1	HGNC:26686	MGI:1913603	-	-	yes	no	no	no	NA
RILP	HGNC:30266	MGI:2144271	-	-	yes	no	no	no	NA
RILPL1	HGNC:26814	MGI:1922945	OMIM:619790|ORPHA:98897	Oculopharyngodistal Myopathy 4|Oculopharyngodistal Myopathy	yes	yes	yes	yes	32.03
RILPL2	HGNC:28787	MGI:1933112	-	-	yes	no	no	no	NA
RIMBP2	HGNC:30339	MGI:2443235	-	-	yes	no	no	no	NA
RIMKLA	HGNC:28725	MGI:3040686	-	-	no	no	no	no	NA
RIMKLB	HGNC:29228	MGI:1918325	-	-	yes	no	no	no	NA
RIMOC1	HGNC:27750	MGI:2146232	-	-	yes	no	no	no	NA
RIMS1	HGNC:17282	MGI:2152971	ORPHA:1872	Cone Rod Dystrophy	no	no	no	no	NA
RIMS2	HGNC:17283	MGI:2152972	OMIM:618970	Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	no	no	no	no	NA
RIMS3	HGNC:21292	MGI:2443331	-	-	yes	no	no	no	NA
RIMS4	HGNC:16183	MGI:2674366	-	-	no	no	no	no	NA
RIN1	HGNC:18749	MGI:2385695	-	-	yes	no	no	no	NA
RIN2	HGNC:18750	MGI:1921280	OMIM:613075|ORPHA:217335	Macs Syndrome|Rin2 Syndrome	yes	yes	yes	yes	29.465
RIN3	HGNC:18751	MGI:2385708	-	-	yes	no	no	no	NA
RING1	HGNC:10018	MGI:1101770	-	-	no	no	no	no	NA
RINL	HGNC:24795	MGI:2444024	-	-	yes	no	no	no	NA
RINT1	HGNC:21876	MGI:1916233	OMIM:618641|ORPHA:464724	Infantile Liver Failure Syndrome 3|Fever-Associated Acute Infantile Liver Failure Syndrome	yes	yes	yes	yes	24.555
RIOK1	HGNC:18656	MGI:1918590	-	-	yes	no	no	no	NA
RIOK2	HGNC:18999	MGI:1914295	-	-	yes	no	no	no	NA
RIOK3	HGNC:11451	MGI:1914128	-	-	yes	no	no	no	NA
RIOX1	HGNC:20968	MGI:1919202	-	-	no	no	no	no	NA
RIOX2	HGNC:19441	MGI:1914264	-	-	no	no	no	no	NA
RIPK1	HGNC:10019	MGI:108212	OMIM:618852|OMIM:618108|ORPHA:529977	Autoinflammation With Episodic Fever And Lymphadenopathy|Immunodeficiency 57 With Autoinflammation|Immune Dysregulation-Inflammatory Bowel Disease-Arthritis-Recurrent Infections-Lymphopenia Syndrome	no	no	no	no	NA
RIPK2	HGNC:10020	MGI:1891456	-	-	no	no	no	no	NA
RIPK3	HGNC:10021	MGI:2154952	-	-	yes	no	no	no	NA
RIPK4	HGNC:496	MGI:1919638	OMIM:214350|OMIM:263650|ORPHA:1234|ORPHA:1401	Chand Syndrome|Bartsocas-Papas Syndrome 1|Bartsocas-Papas Syndrome	yes	no	yes	no	NA
RIPOR1	HGNC:25836	MGI:1922937	-	-	no	no	no	no	NA
RIPOR2	HGNC:13872	MGI:2444879	OMIM:616515|OMIM:607017|ORPHA:90636	Deafness, Autosomal Recessive 104|Deafness, Autosomal Dominant 21|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	no	no	no	no	NA
RIPOR3	HGNC:16168	MGI:1916803	-	-	no	no	no	no	NA
RIPPLY1	HGNC:25117	MGI:3614797	-	-	no	no	no	no	NA
RIPPLY2	HGNC:21390	MGI:2685968	OMIM:616566|ORPHA:2311	Spondylocostal Dysostosis 6, Autosomal Recessive|Autosomal Recessive Spondylocostal Dysostosis	no	no	no	no	NA
RIPPLY3	HGNC:3047	MGI:2181192	-	-	yes	no	no	no	NA
RIT1	HGNC:10023	MGI:108053	OMIM:615355|ORPHA:648	Noonan Syndrome 8|Noonan Syndrome	yes	yes	yes	yes	21.39
RIT2	HGNC:10017	MGI:108054	-	-	no	no	no	no	NA
RITA1	HGNC:25925	MGI:1922021	-	-	no	no	no	no	NA
RLBP1	HGNC:10024	MGI:97930	OMIM:607475|OMIM:136880|OMIM:607476|ORPHA:791|ORPHA:227796|ORPHA:52427|ORPHA:85128	Bothnia Retinal Dystrophy|Fundus Albipunctatus|Newfoundland Rod-Cone Dystrophy|Retinitis Pigmentosa|Retinitis Punctata Albescens	yes	yes	yes	yes	18.005
RLF	HGNC:10025	MGI:1924705	-	-	no	no	no	no	NA
RLIG1	HGNC:25322	MGI:1921197	-	-	no	no	no	no	NA
RLIM	HGNC:13429	MGI:1342291	OMIM:300978|ORPHA:528084	Tonne-Kalscheuer Syndrome|Non-Specific Syndromic Intellectual Disability	yes	yes	yes	yes	35.095
RLN3	HGNC:17135	MGI:2158015	-	-	yes	no	no	no	NA
RMC1	HGNC:24326	MGI:1916528	-	-	no	no	no	no	NA
RMDN1	HGNC:24285	MGI:1913552	-	-	no	no	no	no	NA
RMDN2	HGNC:26567	MGI:2147043	-	-	no	no	no	no	NA
RMDN3	HGNC:25550	MGI:1915059	-	-	no	no	no	no	NA
RMI1	HGNC:25764	MGI:1921636	-	-	no	no	no	no	NA
RMI2	HGNC:28349	MGI:2685383	ORPHA:508512	Intrauterine Growth Restriction-Congenital Multiple Café-Au-Lait Macules-Increased Sister Chromatid Exchange Syndrome	no	no	no	no	NA
RMND1	HGNC:21176	MGI:1913334	OMIM:614922|ORPHA:324535|ORPHA:642976|ORPHA:642945	Combined Oxidative Phosphorylation Deficiency 11|Combined Oxidative Phosphorylation Defect Type 11|Perrault Syndrome Type 2|Perrault Syndrome Type 1	no	no	no	no	NA
RMND5A	HGNC:25850	MGI:1915727	-	-	no	no	no	no	NA
RMND5B	HGNC:26181	MGI:1913339	-	-	yes	no	no	no	NA
RNASE1	HGNC:10044	MGI:97919	-	-	yes	no	no	no	NA
RNASE10	HGNC:19275	MGI:1922269	-	-	yes	no	no	no	NA
RNASE11	HGNC:19269	MGI:3528583	-	-	yes	no	no	no	NA
RNASE12	HGNC:24211	MGI:3528588	-	-	yes	no	no	no	NA
RNASE13	HGNC:25285	MGI:3528592	-	-	yes	no	no	no	NA
RNASE4	HGNC:10047	MGI:1926217	-	-	no	no	no	no	NA
RNASE6	HGNC:10048	MGI:1925666	-	-	yes	no	no	no	NA
RNASE9	HGNC:20673	MGI:3057273	-	-	yes	no	no	no	NA
RNASEH1	HGNC:18466	MGI:1335073	OMIM:616479|ORPHA:329336	Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2|Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	no	no	no	no	NA
RNASEH2A	HGNC:18518	MGI:1916974	OMIM:610333|ORPHA:51	Aicardi-Goutieres Syndrome 4|Aicardi-Goutières Syndrome	yes	yes	yes	yes	54.38
RNASEH2B	HGNC:25671	MGI:1914403	OMIM:610181|ORPHA:51	Aicardi-Goutieres Syndrome 2|Aicardi-Goutières Syndrome	yes	no	yes	no	NA
RNASEH2C	HGNC:24116	MGI:1915459	OMIM:610329|ORPHA:51	Aicardi-Goutieres Syndrome 3|Aicardi-Goutières Syndrome	yes	yes	yes	no	NA
RNASEK	HGNC:33911	MGI:106369	-	-	yes	no	no	no	NA
RNASEL	HGNC:10050	MGI:1098272	OMIM:601518|ORPHA:1331	Prostate Cancer, Hereditary, 1|Familial Prostate Cancer	no	no	no	no	NA
RND1	HGNC:18314	MGI:2444878	-	-	no	no	no	no	NA
RND2	HGNC:18315	MGI:1338755	-	-	yes	no	no	no	NA
RND3	HGNC:671	MGI:1921444	-	-	yes	no	no	no	NA
RNF10	HGNC:10055	MGI:1859162	-	-	yes	no	no	no	NA
RNF103	HGNC:12859	MGI:109483	-	-	no	no	no	no	NA
RNF11	HGNC:10056	MGI:1352759	-	-	no	no	no	no	NA
RNF111	HGNC:17384	MGI:1934919	-	-	no	no	no	no	NA
RNF112	HGNC:12968	MGI:106611	-	-	yes	no	no	no	NA
RNF114	HGNC:13094	MGI:1933159	-	-	yes	no	no	no	NA
RNF115	HGNC:18154	MGI:1915095	-	-	yes	no	no	no	NA
RNF121	HGNC:21070	MGI:1922462	-	-	yes	no	no	no	NA
RNF122	HGNC:21147	MGI:1916117	-	-	no	no	no	no	NA
RNF123	HGNC:21148	MGI:2148796	-	-	yes	no	no	no	NA
RNF125	HGNC:21150	MGI:1914914	OMIM:616260	Tenorio Syndrome	yes	yes	yes	no	NA
RNF126	HGNC:21151	MGI:1917544	-	-	yes	no	no	no	NA
RNF128	HGNC:21153	MGI:1914139	-	-	yes	no	no	no	NA
RNF13	HGNC:10057	MGI:1346341	OMIM:618379|ORPHA:544503	Developmental And Epileptic Encephalopathy 73|Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	yes	yes	yes	no	NA
RNF130	HGNC:18280	MGI:1891717	-	-	no	no	no	no	NA
RNF133	HGNC:21154	MGI:2677436	-	-	yes	no	no	no	NA
RNF135	HGNC:21158	MGI:1919206	ORPHA:137634	Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	yes	yes	yes	yes	19.43
RNF138	HGNC:17765	MGI:1929211	-	-	yes	no	no	no	NA
RNF139	HGNC:17023	MGI:1923091	OMIM:144700|ORPHA:422526	Renal Cell Carcinoma, Nonpapillary|Hereditary Clear Cell Renal Cell Carcinoma	no	no	no	no	NA
RNF14	HGNC:10058	MGI:1929668	-	-	yes	no	no	no	NA
RNF141	HGNC:21159	MGI:1914400	-	-	no	no	no	no	NA
RNF144A	HGNC:20457	MGI:1344401	-	-	yes	no	no	no	NA
RNF144B	HGNC:21578	MGI:2384986	-	-	yes	no	no	no	NA
RNF145	HGNC:20853	MGI:1921565	-	-	yes	no	no	no	NA
RNF146	HGNC:21336	MGI:1915281	-	-	no	no	no	no	NA
RNF148	HGNC:22411	MGI:1918550	-	-	yes	no	no	no	NA
RNF149	HGNC:23137	MGI:2677438	-	-	no	no	no	no	NA
RNF150	HGNC:23138	MGI:2443860	-	-	no	no	no	no	NA
RNF151	HGNC:23235	MGI:1914754	-	-	no	no	no	no	NA
RNF152	HGNC:26811	MGI:2443787	-	-	no	no	no	no	NA
RNF157	HGNC:29402	MGI:2442484	-	-	yes	no	no	no	NA
RNF166	HGNC:28856	MGI:1915968	-	-	yes	no	no	no	NA
RNF167	HGNC:24544	MGI:1917760	-	-	no	no	no	no	NA
RNF168	HGNC:26661	MGI:1917488	OMIM:611943|ORPHA:420741	Riddle Syndrome	yes	yes	yes	yes	33.615
RNF169	HGNC:26961	MGI:1920257	-	-	yes	no	no	no	NA
RNF17	HGNC:10060	MGI:1353419	-	-	no	no	no	no	NA
RNF170	HGNC:25358	MGI:1924983	OMIM:608984|OMIM:619686|ORPHA:631082	Ataxia, Sensory, 1, Autosomal Dominant|Spastic Paraplegia 85, Autosomal Recessive|Autosomal Recessive Spastic Paraplegia Type 85	no	no	no	no	NA
RNF180	HGNC:27752	MGI:1919066	-	-	yes	no	no	no	NA
RNF181	HGNC:28037	MGI:1913760	-	-	no	no	no	no	NA
RNF182	HGNC:28522	MGI:3045355	-	-	no	no	no	no	NA
RNF183	HGNC:28721	MGI:1923322	-	-	yes	no	no	no	NA
RNF185	HGNC:26783	MGI:1922078	-	-	no	no	no	no	NA
RNF186	HGNC:25978	MGI:1914075	-	-	no	no	no	no	NA
RNF187	HGNC:27146	MGI:1914224	-	-	yes	no	no	no	NA
RNF19A	HGNC:13432	MGI:1353623	-	-	no	no	no	no	NA
RNF19B	HGNC:26886	MGI:1922484	-	-	yes	no	no	no	NA
RNF2	HGNC:10061	MGI:1101759	OMIM:619460|ORPHA:528084	Luo-Schoch-Yamamoto Syndrome|Non-Specific Syndromic Intellectual Disability	no	no	no	no	NA
RNF20	HGNC:10062	MGI:1925927	-	-	yes	no	no	no	NA
RNF207	HGNC:32947	MGI:2684989	-	-	yes	no	no	no	NA
RNF208	HGNC:25420	MGI:1916096	-	-	yes	no	no	no	NA
RNF212	HGNC:27729	MGI:3645767	OMIM:619673|OMIM:612042|ORPHA:399805	Spermatogenic Failure 62|Recombination Rate Quantitative Trait Locus 1|Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	no	no	no	no	NA
RNF212B	HGNC:20438	MGI:5589964	-	-	no	no	no	no	NA
RNF213	HGNC:14539	MGI:1289196	OMIM:607151|ORPHA:2573	Moyamoya Disease 2|Moyamoya Disease	no	no	no	no	NA
RNF214	HGNC:25335	MGI:2444451	-	-	yes	no	no	no	NA
RNF215	HGNC:33434	MGI:1918923	-	-	no	no	no	no	NA
RNF216	HGNC:21698	MGI:1344349	OMIM:212840|ORPHA:1173	Gordon Holmes Syndrome|Cerebellar Ataxia-Hypogonadism Syndrome	yes	yes	yes	yes	33.715
RNF217	HGNC:21487	MGI:3610311	-	-	yes	no	no	no	NA
RNF220	HGNC:25552	MGI:1913993	OMIM:619688	Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	yes	yes	yes	yes	28.035
RNF222	HGNC:34517	MGI:2443227	-	-	no	no	no	no	NA
RNF223	HGNC:40020	MGI:3588193	-	-	yes	no	no	no	NA
RNF224	HGNC:41912	MGI:2685603	-	-	no	no	no	no	NA
RNF225	HGNC:51249	MGI:1924198	-	-	yes	no	no	no	NA
RNF24	HGNC:13779	MGI:1261771	-	-	yes	no	no	no	NA
RNF25	HGNC:14662	MGI:1890215	-	-	yes	no	no	no	NA
RNF31	HGNC:16031	MGI:1934704	ORPHA:329173	Autoinflammatory Syndrome With Pyogenic Bacterial Infection And Amylopectinosis	yes	yes	no	no	NA
RNF32	HGNC:17118	MGI:1861747	-	-	yes	no	no	no	NA
RNF34	HGNC:17297	MGI:2153340	-	-	no	no	no	no	NA
RNF38	HGNC:18052	MGI:1920719	-	-	yes	no	no	no	NA
RNF39	HGNC:18064	MGI:2156378	-	-	no	no	no	no	NA
RNF4	HGNC:10067	MGI:1201691	-	-	yes	no	no	no	NA
RNF40	HGNC:16867	MGI:2142048	-	-	yes	no	no	no	NA
RNF41	HGNC:18401	MGI:1914838	-	-	yes	no	no	no	NA
RNF43	HGNC:18505	MGI:2442609	OMIM:617108|ORPHA:157798	Sessile Serrated Polyposis Cancer Syndrome|Serrated Polyposis Syndrome	yes	yes	yes	yes	14.13
RNF44	HGNC:19180	MGI:2145310	-	-	yes	no	no	no	NA
RNF5	HGNC:10068	MGI:1860076	-	-	yes	no	no	no	NA
RNF6	HGNC:10069	MGI:1921382	OMIM:133239|ORPHA:99977	Esophageal Cancer|Squamous Cell Carcinoma Of The Esophagus	no	no	no	no	NA
RNF7	HGNC:10070	MGI:1337096	-	-	yes	no	no	no	NA
RNF8	HGNC:10071	MGI:1929069	-	-	no	no	no	no	NA
RNFT1	HGNC:30206	MGI:1924142	-	-	yes	no	no	no	NA
RNFT2	HGNC:25905	MGI:2442859	-	-	yes	no	no	no	NA
RNGTT	HGNC:10073	MGI:1329041	-	-	no	no	no	no	NA
RNH1	HGNC:10074	MGI:1195456	OMIM:620461	Encephalitis, Acute, Infection-Induced, Susceptibility To, 12	no	no	no	no	NA
RNMT	HGNC:10075	MGI:1915147	-	-	yes	no	no	no	NA
RNPC3	HGNC:18666	MGI:1914475	OMIM:618160|ORPHA:231662	Pituitary Hormone Deficiency, Combined Or Isolated, 7|Isolated Growth Hormone Deficiency Type Ia	yes	yes	yes	no	NA
RNPEP	HGNC:10078	MGI:2384902	-	-	yes	no	no	no	NA
RNPEPL1	HGNC:10079	MGI:1914170	-	-	yes	no	no	no	NA
RNPS1	HGNC:10080	MGI:97960	-	-	no	no	no	no	NA
RO60	HGNC:11313	MGI:106652	-	-	no	no	no	no	NA
ROBO1	HGNC:10249	MGI:1274781	OMIM:257400|OMIM:620305|OMIM:620303|ORPHA:95496	Nystagmus 8, Congenital, Autosomal Recessive|Neurooculorenal Syndrome|Pituitary Hormone Deficiency, Combined Or Isolated, 8|Pituitary Stalk Interruption Syndrome	yes	yes	yes	no	NA
ROBO2	HGNC:10250	MGI:1890110	OMIM:610878|ORPHA:289365	Vesicoureteral Reflux 2|Familial Vesicoureteral Reflux	yes	yes	yes	yes	60.275
ROBO3	HGNC:13433	MGI:1343102	OMIM:607313|ORPHA:2744	Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1|Horizontal Gaze Palsy With Progressive Scoliosis	yes	yes	yes	no	NA
ROBO4	HGNC:17985	MGI:1921394	OMIM:618496	Aortic Valve Disease 3	yes	yes	yes	no	NA
ROCK1	HGNC:10251	MGI:107927	-	-	yes	no	no	no	NA
ROCK2	HGNC:10252	MGI:107926	-	-	no	no	no	no	NA
ROGDI	HGNC:29478	MGI:1913299	OMIM:226750|ORPHA:1946	Kohlschutter-Tonz Syndrome|Amelocerebrohypohidrotic Syndrome	no	no	no	no	NA
ROM1	HGNC:10254	MGI:97998	OMIM:608133|ORPHA:791	Retinitis Pigmentosa 7|Retinitis Pigmentosa	no	no	no	no	NA
ROMO1	HGNC:16185	MGI:1914317	-	-	yes	no	no	no	NA
ROPN1L	HGNC:24060	MGI:2182357	-	-	yes	no	no	no	NA
ROR1	HGNC:10256	MGI:1347520	OMIM:617654|ORPHA:90636	Deafness, Autosomal Recessive 108|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	yes	yes	yes	no	NA
ROR2	HGNC:10257	MGI:1347521	OMIM:113000|OMIM:268310|ORPHA:1507|ORPHA:572385	Brachydactyly, Type B1|Robinow Syndrome, Autosomal Recessive 1|Autosomal Recessive Robinow Syndrome|Brachydactyly Type B1	yes	yes	yes	yes	42.85
RORA	HGNC:10258	MGI:104661	OMIM:618060	Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	yes	yes	yes	no	NA
RORB	HGNC:10259	MGI:1343464	OMIM:618357	Epilepsy, Idiopathic Generalized, Susceptibility To, 15	no	no	no	no	NA
RORC	HGNC:10260	MGI:104856	OMIM:616622|ORPHA:477857	Immunodeficiency 42|Autosomal Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Rorgamma Receptor Deficiency	no	no	no	no	NA
ROS1	HGNC:10261	MGI:97999	-	-	no	no	no	no	NA
RP1	HGNC:10263	MGI:1341105	OMIM:180100|ORPHA:791	Retinitis Pigmentosa 1|Retinitis Pigmentosa	no	no	no	no	NA
RP1L1	HGNC:15946	MGI:2384303	OMIM:613587|OMIM:618826|ORPHA:791|ORPHA:247834	Occult Macular Dystrophy|Retinitis Pigmentosa 88|Retinitis Pigmentosa	no	no	no	no	NA
RP2	HGNC:10274	MGI:1277953	OMIM:312600|ORPHA:791	Retinitis Pigmentosa 2|Retinitis Pigmentosa	no	no	no	no	NA
RP9	HGNC:10288	MGI:2157166	OMIM:180104|ORPHA:791	Retinitis Pigmentosa 9|Retinitis Pigmentosa	yes	yes	yes	yes	23.795
RPA1	HGNC:10289	MGI:1915525	OMIM:619767	Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	yes	yes	yes	yes	30.42
RPA2	HGNC:10290	MGI:1339939	-	-	no	no	no	no	NA
RPA3	HGNC:10291	MGI:1915490	-	-	no	no	no	no	NA
RPAIN	HGNC:28641	MGI:1916973	-	-	yes	no	no	no	NA
RPAP1	HGNC:24567	MGI:1916175	-	-	no	no	no	no	NA
RPAP2	HGNC:25791	MGI:2141142	-	-	yes	no	no	no	NA
RPAP3	HGNC:26151	MGI:1277218	-	-	yes	no	no	no	NA
RPE	HGNC:10293	MGI:1913896	-	-	yes	no	no	no	NA
RPE65	HGNC:10294	MGI:98001	OMIM:204100|OMIM:613794|OMIM:618697|ORPHA:791|ORPHA:65|ORPHA:364055	Leber Congenital Amaurosis 2|Retinitis Pigmentosa 20|Retinitis Pigmentosa 87 With Choroidal Involvement|Retinitis Pigmentosa|Leber Congenital Amaurosis|Severe Early-Childhood-Onset Retinal Dystrophy	yes	yes	yes	yes	50.075
RPF1	HGNC:30350	MGI:1917535	-	-	no	no	no	no	NA
RPF2	HGNC:20870	MGI:1914489	-	-	no	no	no	no	NA
RPGR	HGNC:10295	MGI:1344037	OMIM:304020|OMIM:300834|OMIM:300029|OMIM:300455|ORPHA:244|ORPHA:791|ORPHA:1872|ORPHA:247522|ORPHA:49382	Cone-Rod Dystrophy, X-Linked, 1|Macular Degeneration, Atrophic, X-Linked|Retinitis Pigmentosa 3|Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness|Primary Ciliary Dyskinesia|Retinitis Pigmentosa|Cone Rod Dystrophy|Primary Ciliary Dyskinesia-Retinitis Pigmentosa Syndrome|Achromatopsia	no	no	no	no	NA
RPGRIP1	HGNC:13436	MGI:1932134	OMIM:608194|OMIM:613826|ORPHA:564|ORPHA:1872|ORPHA:65	Cone-Rod Dystrophy 13|Leber Congenital Amaurosis 6|Meckel Syndrome|Cone Rod Dystrophy|Leber Congenital Amaurosis	no	no	no	no	NA
RPGRIP1L	HGNC:29168	MGI:1920563	OMIM:619113|OMIM:611560|OMIM:611561|ORPHA:564|ORPHA:1454|ORPHA:220497	Coach Syndrome 3|Joubert Syndrome 7|Meckel Syndrome, Type 5|Meckel Syndrome|Joubert Syndrome With Hepatic Defect|Joubert Syndrome With Renal Defect	yes	yes	yes	no	NA
RPH3A	HGNC:17056	MGI:102788	-	-	yes	no	no	no	NA
RPH3AL	HGNC:10296	MGI:1923492	-	-	no	no	no	no	NA
RPIA	HGNC:10297	MGI:103254	OMIM:608611|ORPHA:440706	Ribose 5-Phosphate Isomerase Deficiency|Ribose-5-P Isomerase Deficiency	yes	yes	yes	yes	26.82
RPL10	HGNC:10298	MGI:105943	OMIM:300998|OMIM:300847|ORPHA:459070|ORPHA:435938	Intellectual Developmental Disorder, X-Linked, Syndromic, 35|Autism, Susceptibility To, X-Linked 5|X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome|X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	no	no	no	no	NA
RPL10A	HGNC:10299	MGI:1343877	-	-	no	no	no	no	NA
RPL10L	HGNC:17976	MGI:3647985	OMIM:619689|ORPHA:399805	Spermatogenic Failure 63|Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	no	no	no	no	NA
RPL12	HGNC:10302	MGI:98002	-	-	yes	no	no	no	NA
RPL13	HGNC:10303	MGI:105922	OMIM:618728	Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	no	no	no	no	NA
RPL13A	HGNC:10304	MGI:1351455	-	-	no	no	no	no	NA
RPL14	HGNC:10305	MGI:1914365	-	-	no	no	no	no	NA
RPL15	HGNC:10306	MGI:1913730	OMIM:615550|ORPHA:124	Diamond-Blackfan Anemia 12|Diamond-Blackfan Anemia	no	no	no	no	NA
RPL17	HGNC:10307	MGI:2448270	-	-	no	no	no	no	NA
RPL18	HGNC:10310	MGI:98003	OMIM:618310|ORPHA:124	Diamond-Blackfan Anemia 18|Diamond-Blackfan Anemia	no	no	no	no	NA
RPL18A	HGNC:10311	MGI:1924058	-	-	no	no	no	no	NA
RPL19	HGNC:10312	MGI:98020	-	-	no	no	no	no	NA
RPL21	HGNC:10313	MGI:1278340	OMIM:615885|ORPHA:55654	Hypotrichosis 12|Hypotrichosis Simplex	no	no	no	no	NA
RPL22	HGNC:10315	MGI:99262	-	-	no	no	no	no	NA
RPL22L1	HGNC:27610	MGI:1915278	-	-	no	no	no	no	NA
RPL23	HGNC:10316	MGI:1929455	-	-	no	no	no	no	NA
RPL23A	HGNC:10317	MGI:3040672	-	-	no	no	no	no	NA
RPL24	HGNC:10325	MGI:1915443	-	-	no	no	no	no	NA
RPL26	HGNC:10327	MGI:106022	OMIM:614900|ORPHA:124	Diamond-Blackfan Anemia 11|Diamond-Blackfan Anemia	no	no	no	no	NA
RPL27	HGNC:10328	MGI:98036	OMIM:617408|ORPHA:124	Diamond-Blackfan Anemia 16|Diamond-Blackfan Anemia	no	no	no	no	NA
RPL27A	HGNC:10329	MGI:1347076	-	-	no	no	no	no	NA
RPL28	HGNC:10330	MGI:101839	-	-	no	no	no	no	NA
RPL3	HGNC:10332	MGI:1351605	-	-	no	no	no	no	NA
RPL30	HGNC:10333	MGI:98037	-	-	no	no	no	no	NA
RPL31	HGNC:10334	MGI:2149632	ORPHA:124	Diamond-Blackfan Anemia	no	no	no	no	NA
RPL32	HGNC:10336	MGI:98038	-	-	yes	no	no	no	NA
RPL34	HGNC:10340	MGI:1915686	-	-	no	no	no	no	NA
RPL35	HGNC:10344	MGI:1913739	OMIM:618312|ORPHA:124	Diamond-Blackfan Anemia 19|Diamond-Blackfan Anemia	no	no	no	no	NA
RPL35A	HGNC:10345	MGI:1928894	OMIM:612528|ORPHA:124	Diamond-Blackfan Anemia 5|Diamond-Blackfan Anemia	no	no	no	no	NA
RPL36	HGNC:13631	MGI:1860603	-	-	no	no	no	no	NA
RPL37	HGNC:10347	MGI:1914531	-	-	no	no	no	no	NA
RPL37A	HGNC:10348	MGI:98068	-	-	no	no	no	no	NA
RPL38	HGNC:10349	MGI:1914921	-	-	no	no	no	no	NA
RPL39	HGNC:10350	MGI:1914498	-	-	no	no	no	no	NA
RPL3L	HGNC:10351	MGI:1913461	OMIM:619371|ORPHA:154	Cardiomyopathy, Dilated, 2D|Familial Isolated Dilated Cardiomyopathy	no	no	no	no	NA
RPL4	HGNC:10353	MGI:1915141	-	-	no	no	no	no	NA
RPL5	HGNC:10360	MGI:102854	OMIM:612561|ORPHA:124	Diamond-Blackfan Anemia 6|Diamond-Blackfan Anemia	no	no	no	no	NA
RPL6	HGNC:10362	MGI:108057	-	-	no	no	no	no	NA
RPL7	HGNC:10363	MGI:98073	-	-	no	no	no	no	NA
RPL7A	HGNC:10364	MGI:1353472	-	-	no	no	no	no	NA
RPL7L1	HGNC:21370	MGI:1913479	-	-	yes	no	no	no	NA
RPL8	HGNC:10368	MGI:1350927	ORPHA:124	Diamond-Blackfan Anemia	no	no	no	no	NA
RPLP0	HGNC:10371	MGI:1927636	-	-	no	no	no	no	NA
RPLP1	HGNC:10372	MGI:1927099	-	-	no	no	no	no	NA
RPLP2	HGNC:10377	MGI:1914436	-	-	no	no	no	no	NA
RPN1	HGNC:10381	MGI:98084	ORPHA:402020	Acute Myeloid Leukemia With Inv(3)(Q21Q26.2) Or T(3;3)(Q21;Q26.2)	no	no	no	no	NA
RPN2	HGNC:10382	MGI:98085	-	-	yes	no	no	no	NA
RPP14	HGNC:30327	MGI:1914303	-	-	no	no	no	no	NA
RPP21	HGNC:21300	MGI:1914926	-	-	no	no	no	no	NA
RPP25	HGNC:30361	MGI:2143151	-	-	no	no	no	no	NA
RPP25L	HGNC:19909	MGI:1917211	-	-	no	no	no	no	NA
RPP30	HGNC:17688	MGI:1859683	-	-	no	no	no	no	NA
RPP38	HGNC:30329	MGI:2443607	-	-	no	no	no	no	NA
RPP40	HGNC:20992	MGI:1346084	-	-	no	no	no	no	NA
RPRD1A	HGNC:25560	MGI:2385066	-	-	yes	no	no	no	NA
RPRD1B	HGNC:16209	MGI:1917720	-	-	yes	no	no	no	NA
RPRD2	HGNC:29039	MGI:1922387	-	-	yes	no	no	no	NA
RPRM	HGNC:24201	MGI:1915124	-	-	no	no	no	no	NA
RPRML	HGNC:32422	MGI:2144486	-	-	no	no	no	no	NA
RPS10	HGNC:10383	MGI:1914347	OMIM:613308|ORPHA:124	Diamond-Blackfan Anemia 9|Diamond-Blackfan Anemia	no	no	no	no	NA
RPS11	HGNC:10384	MGI:1351329	-	-	no	no	no	no	NA
RPS12	HGNC:10385	MGI:98105	-	-	yes	no	no	no	NA
RPS13	HGNC:10386	MGI:1915302	-	-	no	no	no	no	NA
RPS14	HGNC:10387	MGI:98107	OMIM:153550|ORPHA:86841	Chromosome 5Q Deletion Syndrome|Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	no	no	no	no	NA
RPS15	HGNC:10388	MGI:98117	ORPHA:67038	B-Cell Chronic Lymphocytic Leukemia	no	no	no	no	NA
RPS15A	HGNC:10389	MGI:2389091	OMIM:618313|ORPHA:124	Diamond-Blackfan Anemia 20|Diamond-Blackfan Anemia	no	no	no	no	NA
RPS16	HGNC:10396	MGI:98118	-	-	no	no	no	no	NA
RPS17	HGNC:10397	MGI:1309526	OMIM:612527|ORPHA:124	Diamond-Blackfan Anemia 4|Diamond-Blackfan Anemia	no	no	no	no	NA
RPS18	HGNC:10401	MGI:98146	-	-	no	no	no	no	NA
RPS19	HGNC:10402	MGI:1333780	OMIM:105650|ORPHA:124	Diamond-Blackfan Anemia 1|Diamond-Blackfan Anemia	no	no	no	no	NA
RPS19BP1	HGNC:28749	MGI:1913788	-	-	yes	no	no	no	NA
RPS2	HGNC:10404	MGI:105110	-	-	no	no	no	no	NA
RPS20	HGNC:10405	MGI:1914677	ORPHA:124|ORPHA:440437	Diamond-Blackfan Anemia|Familial Colorectal Cancer Type X	yes	yes	yes	yes	30.58
RPS21	HGNC:10409	MGI:1913731	-	-	no	no	no	no	NA
RPS23	HGNC:10410	MGI:1913725	OMIM:617412	Brachycephaly, Trichomegaly, And Developmental Delay	no	no	no	no	NA
RPS24	HGNC:10411	MGI:98147	OMIM:610629|ORPHA:124	Diamond-Blackfan Anemia 3|Diamond-Blackfan Anemia	no	no	no	no	NA
RPS25	HGNC:10413	MGI:1922867	-	-	no	no	no	no	NA
RPS26	HGNC:10414	MGI:1351628	OMIM:613309|ORPHA:124	Diamond-Blackfan Anemia 10|Diamond-Blackfan Anemia	yes	yes	yes	no	NA
RPS27A	HGNC:10417	MGI:1925544	-	-	no	no	no	no	NA
RPS27L	HGNC:18476	MGI:1915191	-	-	no	no	no	no	NA
RPS28	HGNC:10418	MGI:1859516	OMIM:606164|ORPHA:124	Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis|Diamond-Blackfan Anemia	no	no	no	no	NA
RPS29	HGNC:10419	MGI:107681	OMIM:615909|ORPHA:124	Diamond-Blackfan Anemia 13|Diamond-Blackfan Anemia	no	no	no	no	NA
RPS3	HGNC:10420	MGI:1350917	-	-	no	no	no	no	NA
RPS3A	HGNC:10421	MGI:1202063	-	-	no	no	no	no	NA
RPS4X	HGNC:10424	MGI:98158	-	-	no	no	no	no	NA
RPS5	HGNC:10426	MGI:1097682	-	-	no	no	no	no	NA
RPS6	HGNC:10429	MGI:98159	-	-	no	no	no	no	NA
RPS6KA1	HGNC:10430	MGI:104558	-	-	yes	no	no	no	NA
RPS6KA2	HGNC:10431	MGI:1342290	-	-	no	no	no	no	NA
RPS6KA3	HGNC:10432	MGI:104557	OMIM:303600|OMIM:300844|ORPHA:192|ORPHA:276630|ORPHA:777	Coffin-Lowry Syndrome|Intellectual Developmental Disorder, X-Linked 19|Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers|X-Linked Non-Syndromic Intellectual Disability	yes	no	yes	no	NA
RPS6KA4	HGNC:10433	MGI:1930076	-	-	no	no	no	no	NA
RPS6KA5	HGNC:10434	MGI:1920336	-	-	no	no	no	no	NA
RPS6KA6	HGNC:10435	MGI:1914321	-	-	no	no	no	no	NA
RPS6KB1	HGNC:10436	MGI:1270849	-	-	no	no	no	no	NA
RPS6KB2	HGNC:10437	MGI:1927343	-	-	no	no	no	no	NA
RPS6KC1	HGNC:10439	MGI:2443419	-	-	yes	no	no	no	NA
RPS6KL1	HGNC:20222	MGI:2443413	-	-	yes	no	no	no	NA
RPS7	HGNC:10440	MGI:1333818	OMIM:612563|ORPHA:124	Diamond-Blackfan Anemia 8|Diamond-Blackfan Anemia	no	no	no	no	NA
RPS8	HGNC:10441	MGI:98166	-	-	no	no	no	no	NA
RPS9	HGNC:10442	MGI:1924096	-	-	no	no	no	no	NA
RPSA	HGNC:6502	MGI:105381	OMIM:271400|ORPHA:101351	Asplenia, Isolated Congenital|Familial Isolated Congenital Asplenia	no	no	no	no	NA
RPTN	HGNC:26809	MGI:1099055	-	-	no	no	no	no	NA
RPTOR	HGNC:30287	MGI:1921620	-	-	yes	no	no	no	NA
RPUSD1	HGNC:14173	MGI:1919186	-	-	no	no	no	no	NA
RPUSD2	HGNC:24180	MGI:1918066	-	-	yes	no	no	no	NA
RPUSD3	HGNC:28437	MGI:2141440	-	-	yes	no	no	no	NA
RPUSD4	HGNC:25898	MGI:1919239	-	-	no	no	no	no	NA
RRAD	HGNC:10446	MGI:1930943	-	-	yes	no	no	no	NA
RRAGA	HGNC:16963	MGI:1915691	-	-	no	no	no	no	NA
RRAGB	HGNC:19901	MGI:3038613	-	-	no	no	no	no	NA
RRAGC	HGNC:19902	MGI:1858751	-	-	no	no	no	no	NA
RRAGD	HGNC:19903	MGI:1098604	OMIM:620152	Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	yes	no	yes	no	NA
RRAS	HGNC:10447	MGI:98179	ORPHA:648|ORPHA:86834	Noonan Syndrome|Juvenile Myelomonocytic Leukemia	yes	yes	yes	no	NA
RRAS2	HGNC:17271	MGI:1914172	OMIM:618624|ORPHA:648	Noonan Syndrome 12|Noonan Syndrome	yes	yes	yes	yes	40
RRBP1	HGNC:10448	MGI:1932395	-	-	yes	no	no	no	NA
RREB1	HGNC:10449	MGI:2443664	ORPHA:567	22Q11.2 Deletion Syndrome	yes	yes	yes	yes	47.605
RRH	HGNC:10450	MGI:1097709	-	-	no	no	no	no	NA
RRM1	HGNC:10451	MGI:98180	-	-	yes	no	no	no	NA
RRM2	HGNC:10452	MGI:98181	-	-	yes	no	no	no	NA
RRM2B	HGNC:17296	MGI:2155865	OMIM:612075|OMIM:613077|OMIM:268315|ORPHA:480|ORPHA:254892|ORPHA:255235|ORPHA:329336|ORPHA:298	Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)|Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5|Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction|Kearns-Sayre Syndrome|Autosomal Dominant Progressive External Ophthalmoplegia|Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Renal Tubulopathy|Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy|Mitochondrial Neurogastrointestinal Encephalomyopathy	no	no	no	no	NA
RRN3	HGNC:30346	MGI:1925255	-	-	no	no	no	no	NA
RRP1	HGNC:18785	MGI:1203500	-	-	yes	no	no	no	NA
RRP12	HGNC:29100	MGI:2147437	-	-	no	no	no	no	NA
RRP15	HGNC:24255	MGI:1914473	-	-	no	no	no	no	NA
RRP1B	HGNC:23818	MGI:1919712	-	-	yes	no	no	no	NA
RRP36	HGNC:21374	MGI:2385053	-	-	no	no	no	no	NA
RRP7A	HGNC:24286	MGI:1922028	OMIM:619453	Microcephaly 28, Primary, Autosomal Recessive	no	no	no	no	NA
RRP8	HGNC:29030	MGI:1914251	-	-	yes	no	no	no	NA
RRP9	HGNC:16829	MGI:2384313	-	-	no	no	no	no	NA
RRS1	HGNC:17083	MGI:1929721	-	-	yes	no	no	no	NA
RS1	HGNC:10457	MGI:1336189	OMIM:312700|ORPHA:792	Retinoschisis 1, X-Linked, Juvenile|X-Linked Retinoschisis	no	no	no	no	NA
RSAD1	HGNC:25634	MGI:3039628	-	-	yes	no	no	no	NA
RSAD2	HGNC:30908	MGI:1929628	-	-	yes	no	no	no	NA
RSBN1	HGNC:25642	MGI:2444993	-	-	yes	no	no	no	NA
RSBN1L	HGNC:24765	MGI:3036237	-	-	no	no	no	no	NA
RSC1A1	HGNC:10458	MGI:3526447	-	-	no	no	no	no	NA
RSF1	HGNC:18118	MGI:2682305	-	-	yes	no	no	no	NA
RSKR	HGNC:26314	MGI:2652869	-	-	yes	no	no	no	NA
RSL1D1	HGNC:24534	MGI:1913659	-	-	no	no	no	no	NA
RSL24D1	HGNC:18479	MGI:2681840	-	-	no	no	no	no	NA
RSPH1	HGNC:12371	MGI:1194909	OMIM:615481|ORPHA:244	Ciliary Dyskinesia, Primary, 24|Primary Ciliary Dyskinesia	yes	no	yes	no	NA
RSPH10B	HGNC:27362	MGI:1922386	-	-	no	no	no	no	NA
RSPH14	HGNC:13437	MGI:1918486	-	-	no	no	no	no	NA
RSPH4A	HGNC:21558	MGI:3027894	OMIM:612649|ORPHA:244	Ciliary Dyskinesia, Primary, 11|Primary Ciliary Dyskinesia	no	no	no	no	NA
RSPH6A	HGNC:14241	MGI:1927643	-	-	no	no	no	no	NA
RSPH9	HGNC:21057	MGI:1922814	OMIM:612650|ORPHA:244	Ciliary Dyskinesia, Primary, 12|Primary Ciliary Dyskinesia	yes	yes	yes	no	NA
RSPO1	HGNC:21679	MGI:2183426	OMIM:610644|ORPHA:85112	Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal|Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome	yes	yes	yes	yes	41.085
RSPO2	HGNC:28583	MGI:1922667	OMIM:618022|OMIM:618021|ORPHA:3301	Humerofemoral Hypoplasia With Radiotibial Ray Deficiency|Tetraamelia Syndrome 2|Tetraamelia-Multiple Malformations Syndrome	no	no	no	no	NA
RSPO3	HGNC:20866	MGI:1920030	-	-	no	no	no	no	NA
RSPO4	HGNC:16175	MGI:1924467	OMIM:206800|ORPHA:94150	Nail Disorder, Nonsyndromic Congenital, 4|Anonychia Congenita Totalis	yes	yes	yes	no	NA
RSPRY1	HGNC:29420	MGI:1914860	OMIM:616723|ORPHA:457395	Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type|Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	no	no	no	no	NA
RSRC1	HGNC:24152	MGI:1914130	OMIM:618402|ORPHA:88616	Intellectual Developmental Disorder, Autosomal Recessive 70|Autosomal Recessive Non-Syndromic Intellectual Disability	no	no	no	no	NA
RSRC2	HGNC:30559	MGI:1913489	-	-	yes	no	no	no	NA
RSRP1	HGNC:25234	MGI:106498	-	-	no	no	no	no	NA
RSU1	HGNC:10464	MGI:103040	-	-	yes	no	no	no	NA
RTBDN	HGNC:30310	MGI:2443686	-	-	yes	no	no	no	NA
RTCA	HGNC:17981	MGI:1913618	-	-	no	no	no	no	NA
RTCB	HGNC:26935	MGI:106379	-	-	no	no	no	no	NA
RTEL1	HGNC:15888	MGI:2139369	OMIM:615190|OMIM:616373|ORPHA:1775|ORPHA:3322|ORPHA:2032	Dyskeratosis Congenita, Autosomal Recessive 5|Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3|Dyskeratosis Congenita|Hoyeraal-Hreidarsson Syndrome|Idiopathic Pulmonary Fibrosis	no	no	no	no	NA
RTF1	HGNC:28996	MGI:1309480	-	-	yes	no	no	no	NA
RTF2	HGNC:15890	MGI:1913654	-	-	no	no	no	no	NA
RTKN	HGNC:10466	MGI:107371	-	-	no	no	no	no	NA
RTKN2	HGNC:19364	MGI:2158417	-	-	no	no	no	no	NA
RTL1	HGNC:14665	MGI:2656842	ORPHA:254525|ORPHA:254528|ORPHA:254534|ORPHA:254531|ORPHA:96184|ORPHA:96334	Temple Syndrome Due To Paternal 14Q32.2 Microdeletion|Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion|Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation|Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation|Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14|Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	no	no	no	no	NA
RTL3	HGNC:22997	MGI:2685221	-	-	yes	no	no	no	NA
RTL4	HGNC:25214	MGI:3588192	-	-	yes	no	no	no	NA
RTL5	HGNC:29430	MGI:3045324	-	-	yes	no	no	no	NA
RTL6	HGNC:13343	MGI:2675858	-	-	no	no	no	no	NA
RTL9	HGNC:29245	MGI:2685231	-	-	no	no	no	no	NA
RTN1	HGNC:10467	MGI:1933947	-	-	yes	no	no	no	NA
RTN2	HGNC:10468	MGI:107612	OMIM:604805|ORPHA:100993	Spastic Paraplegia 12, Autosomal Dominant|Autosomal Dominant Spastic Paraplegia Type 12	no	no	no	no	NA
RTN3	HGNC:10469	MGI:1339970	-	-	no	no	no	no	NA
RTN4	HGNC:14085	MGI:1915835	-	-	yes	no	no	no	NA
RTN4IP1	HGNC:18647	MGI:2178759	OMIM:616732|ORPHA:98676	Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures|Autosomal Recessive Isolated Optic Atrophy	yes	yes	yes	no	NA
RTN4R	HGNC:18601	MGI:2136886	OMIM:181500	Schizophrenia	yes	no	yes	no	NA
RTN4RL1	HGNC:21329	MGI:2661375	-	-	no	no	no	no	NA
RTN4RL2	HGNC:23053	MGI:2669796	-	-	yes	no	no	no	NA
RTP1	HGNC:28580	MGI:2685450	-	-	no	no	no	no	NA
RTP2	HGNC:32486	MGI:2685451	-	-	no	no	no	no	NA
RTP3	HGNC:15572	MGI:2446841	-	-	no	no	no	no	NA
RTP4	HGNC:23992	MGI:1915025	-	-	yes	no	no	no	NA
RTRAF	HGNC:23169	MGI:1915295	-	-	yes	no	no	no	NA
RTTN	HGNC:18654	MGI:2179288	OMIM:614833|ORPHA:468631	Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures|Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	yes	yes	yes	yes	29.34
RUBCN	HGNC:28991	MGI:1915160	OMIM:615705|ORPHA:404499	Spinocerebellar Ataxia, Autosomal Recessive 15|Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency	no	no	no	no	NA
RUBCNL	HGNC:20420	MGI:2685590	-	-	no	no	no	no	NA
RUFY1	HGNC:19760	MGI:2429762	-	-	yes	no	no	no	NA
RUFY2	HGNC:19761	MGI:1917682	-	-	yes	no	no	no	NA
RUFY3	HGNC:30285	MGI:106484	-	-	yes	no	no	no	NA
RUFY4	HGNC:24804	MGI:3588214	-	-	yes	no	no	no	NA
RUNDC1	HGNC:25418	MGI:2144506	-	-	yes	no	no	no	NA
RUNDC3A	HGNC:16984	MGI:1858752	-	-	yes	no	no	no	NA
RUNDC3B	HGNC:30286	MGI:2685286	-	-	yes	no	no	no	NA
RUNX1	HGNC:10471	MGI:99852	OMIM:601626|OMIM:601399|ORPHA:521|ORPHA:71290|ORPHA:98850|ORPHA:102724	Leukemia, Acute Myeloid|Platelet Disorder, Familial, With Associated Myeloid Malignancy|Chronic Myeloid Leukemia|Familial Platelet Disorder With Associated Myeloid Malignancy|Aggressive Systemic Mastocytosis|Acute Myeloid Leukemia With T(8;21)(Q22;Q22) Translocation	no	no	no	no	NA
RUNX1T1	HGNC:1535	MGI:104793	ORPHA:102724	Acute Myeloid Leukemia With T(8;21)(Q22;Q22) Translocation	yes	yes	no	no	NA
RUNX2	HGNC:10472	MGI:99829	OMIM:119600|OMIM:156510|ORPHA:1452|ORPHA:2504	Cleidocranial Dysplasia 1|Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly|Cleidocranial Dysplasia|Metaphyseal Dysplasia-Maxillary Hypoplasia-Brachydacty Syndrome	yes	yes	yes	yes	63.29
RUNX3	HGNC:10473	MGI:102672	-	-	yes	no	no	no	NA
RUSC1	HGNC:17153	MGI:1919546	-	-	yes	no	no	no	NA
RUSC2	HGNC:23625	MGI:2140371	OMIM:617773	Intellectual Developmental Disorder, Autosomal Recessive 61	yes	yes	yes	no	NA
RUSF1	HGNC:25848	MGI:2384572	-	-	no	no	no	no	NA
RUVBL1	HGNC:10474	MGI:1928760	-	-	yes	no	no	no	NA
RUVBL2	HGNC:10475	MGI:1342299	-	-	no	no	no	no	NA
RWDD1	HGNC:20993	MGI:1913771	-	-	yes	no	no	no	NA
RWDD2A	HGNC:21385	MGI:1916769	-	-	yes	no	no	no	NA
RWDD2B	HGNC:1302	MGI:1858215	-	-	yes	no	no	no	NA
RWDD3	HGNC:21393	MGI:1920420	-	-	yes	no	no	no	NA
RWDD4	HGNC:23750	MGI:2681000	-	-	no	no	no	no	NA
RXFP1	HGNC:19718	MGI:2682211	-	-	no	no	no	no	NA
RXFP2	HGNC:17318	MGI:2153463	-	-	yes	no	no	no	NA
RXFP3	HGNC:24883	MGI:2441827	-	-	yes	no	no	no	NA
RXFP4	HGNC:14666	MGI:2182926	-	-	yes	no	no	no	NA
RXRA	HGNC:10477	MGI:98214	-	-	no	no	no	no	NA
RXRB	HGNC:10478	MGI:98215	-	-	no	no	no	no	NA
RXRG	HGNC:10479	MGI:98216	-	-	yes	no	no	no	NA
RXYLT1	HGNC:13530	MGI:2384919	OMIM:615041|ORPHA:899	Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10|Walker-Warburg Syndrome	yes	yes	yes	no	NA
RYBP	HGNC:10480	MGI:1929059	-	-	no	no	no	no	NA
RYK	HGNC:10481	MGI:101766	-	-	yes	no	no	no	NA
RYR1	HGNC:10483	MGI:99659	OMIM:117000|OMIM:255320|OMIM:619542|OMIM:145600|ORPHA:597|ORPHA:169186|ORPHA:169189|ORPHA:423|ORPHA:178145|ORPHA:324581|ORPHA:466650|ORPHA:424107|ORPHA:33108|ORPHA:99741|ORPHA:98905	Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia|Congenital Myopathy 1B, Autosomal Recessive|King-Denborough Syndrome|Malignant Hyperthermia, Susceptibility To, 1|Central Core Disease|Autosomal Recessive Centronuclear Myopathy|Autosomal Dominant Centronuclear Myopathy|Malignant Hyperthermia Of Anesthesia|Moderate Multiminicore Disease With Hand Involvement|Benign Samaritan Congenital Myopathy|Exercise-Induced Malignant Hyperthermia|Congenital Myopathy With Myasthenic-Like Onset|Lethal Multiple Pterygium Syndrome|Congenital Multicore Myopathy With External Ophthalmoplegia	yes	yes	yes	yes	24.53
RYR2	HGNC:10484	MGI:99685	OMIM:115000|OMIM:604772|ORPHA:3286|ORPHA:293910|ORPHA:293899|ORPHA:293888	Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome|Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy|Catecholaminergic Polymorphic Ventricular Tachycardia|Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form|Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form|Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form	yes	yes	yes	no	NA
RYR3	HGNC:10485	MGI:99684	OMIM:620310	Congenital Myopathy 20	no	no	no	no	NA
S100A1	HGNC:10486	MGI:1338917	-	-	yes	no	no	no	NA
S100A10	HGNC:10487	MGI:1339468	-	-	no	no	no	no	NA
S100A11	HGNC:10488	MGI:1338798	-	-	no	no	no	no	NA
S100A13	HGNC:10490	MGI:109581	-	-	no	no	no	no	NA
S100A14	HGNC:18901	MGI:1913416	-	-	yes	no	no	no	NA
S100A16	HGNC:20441	MGI:1915110	-	-	yes	no	no	no	NA
S100A3	HGNC:10493	MGI:1338849	-	-	yes	no	no	no	NA
S100A4	HGNC:10494	MGI:1330282	-	-	no	no	no	no	NA
S100A5	HGNC:10495	MGI:1338915	-	-	no	no	no	no	NA
S100A6	HGNC:10496	MGI:1339467	-	-	yes	no	no	no	NA
S100A8	HGNC:10498	MGI:88244	-	-	no	no	no	no	NA
S100A9	HGNC:10499	MGI:1338947	-	-	no	no	no	no	NA
S100B	HGNC:10500	MGI:98217	-	-	yes	no	no	no	NA
S100G	HGNC:1436	MGI:104528	-	-	no	no	no	no	NA
S100PBP	HGNC:25768	MGI:1921898	-	-	no	no	no	no	NA
S100Z	HGNC:30367	MGI:2685471	-	-	no	no	no	no	NA
S1PR1	HGNC:3165	MGI:1096355	-	-	no	no	no	no	NA
S1PR2	HGNC:3169	MGI:99569	OMIM:610419|ORPHA:90636	Deafness, Autosomal Recessive 68|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	no	no	no	no	NA
S1PR3	HGNC:3167	MGI:1339365	-	-	yes	no	no	no	NA
S1PR4	HGNC:3170	MGI:1333809	-	-	no	no	no	no	NA
S1PR5	HGNC:14299	MGI:2150641	-	-	no	no	no	no	NA
SAA4	HGNC:10516	MGI:98224	-	-	yes	no	no	no	NA
SAAL1	HGNC:25158	MGI:1926185	-	-	no	no	no	no	NA
SAC3D1	HGNC:30179	MGI:1913656	-	-	no	no	no	no	NA
SACM1L	HGNC:17059	MGI:1933169	-	-	yes	no	no	no	NA
SACS	HGNC:10519	MGI:1354724	OMIM:270550|ORPHA:98	Spastic Ataxia, Charlevoix-Saguenay Type|Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	yes	yes	yes	yes	18.695
SAE1	HGNC:30660	MGI:1929264	-	-	yes	no	no	no	NA
SAFB	HGNC:10520	MGI:2146974	-	-	no	no	no	no	NA
SAFB2	HGNC:21605	MGI:2146808	-	-	yes	no	no	no	NA
SAG	HGNC:10521	MGI:98227	OMIM:258100|OMIM:613758|OMIM:620228|ORPHA:791|ORPHA:215|ORPHA:75382	Oguchi Disease 1|Retinitis Pigmentosa 47|Retinitis Pigmentosa 96|Retinitis Pigmentosa|Congenital Stationary Night Blindness|Oguchi Disease	yes	yes	yes	yes	32.445
SALL1	HGNC:10524	MGI:1889585	OMIM:107480|ORPHA:857	Townes-Brocks Syndrome 1|Townes-Brocks Syndrome	no	no	no	no	NA
SALL2	HGNC:10526	MGI:1354373	OMIM:216820|ORPHA:98942|ORPHA:98947|ORPHA:98945|ORPHA:98946|ORPHA:98943|ORPHA:98944|ORPHA:99861	Coloboma, Ocular, Autosomal Recessive|Coloboma Of Choroid And Retina|Coloboma Of Optic Disc|Coloboma Of Macula|Coloboma Of Eyelid|Coloboma Of Eye Lens|Coloboma Of Iris|Precursor T-Cell Acute Lymphoblastic Leukemia	no	no	no	no	NA
SALL3	HGNC:10527	MGI:109295	-	-	yes	no	no	no	NA
SALL4	HGNC:15924	MGI:2139360	OMIM:147750|OMIM:607323|ORPHA:233|ORPHA:959|ORPHA:2307|ORPHA:261638|ORPHA:261647	Ivic Syndrome|Duane-Radial Ray Syndrome|Duane Retraction Syndrome|Acro-Renal-Ocular Syndrome|Okihiro Syndrome Due To 20Q13 Microdeletion|Okihiro Syndrome Due To A Point Mutation	no	no	no	no	NA
SAMD1	HGNC:17958	MGI:2142433	-	-	no	no	no	no	NA
SAMD10	HGNC:16129	MGI:2443872	-	-	no	no	no	no	NA
SAMD11	HGNC:28706	MGI:2446220	-	-	yes	no	no	no	NA
SAMD12	HGNC:31750	MGI:2444518	OMIM:601068|ORPHA:86814	Epilepsy, Familial Adult Myoclonic, 1|Benign Adult Familial Myoclonic Epilepsy	no	no	no	no	NA
SAMD13	HGNC:24582	MGI:2686498	-	-	no	no	no	no	NA
SAMD14	HGNC:27312	MGI:2384945	-	-	no	no	no	no	NA
SAMD15	HGNC:18631	MGI:2685109	-	-	no	no	no	no	NA
SAMD3	HGNC:21574	MGI:2685469	-	-	yes	no	no	no	NA
SAMD4A	HGNC:23023	MGI:1921730	-	-	no	no	no	no	NA
SAMD4B	HGNC:25492	MGI:2448542	-	-	no	no	no	no	NA
SAMD5	HGNC:21180	MGI:2444815	-	-	no	no	no	no	NA
SAMD7	HGNC:25394	MGI:1923203	-	-	yes	no	no	no	NA
SAMD8	HGNC:26320	MGI:1914880	-	-	no	no	no	no	NA
SAMD9L	HGNC:1349	MGI:1343184	OMIM:159550|OMIM:252270|OMIM:619806|ORPHA:2585|ORPHA:631106|ORPHA:619367	Ataxia-Pancytopenia Syndrome|Monosomy 7 Myelodysplasia And Leukemia Syndrome 1|Spinocerebellar Ataxia 49|Spinocerebellar Ataxia Type 49|Samd9L-Associated Autoinflammatory Syndrome	yes	yes	yes	no	NA
SAMHD1	HGNC:15925	MGI:1927468	OMIM:614415|OMIM:612952|ORPHA:51|ORPHA:481662	Chilblain Lupus 2|Aicardi-Goutieres Syndrome 5|Aicardi-Goutières Syndrome|Familial Chilblain Lupus	no	no	no	no	NA
SAMM50	HGNC:24276	MGI:1915903	-	-	yes	no	no	no	NA
SAMSN1	HGNC:10528	MGI:1914992	-	-	no	no	no	no	NA
SANBR	HGNC:29387	MGI:1918925	-	-	no	no	no	no	NA
SAP130	HGNC:29813	MGI:1919782	-	-	yes	no	no	no	NA
SAP25	HGNC:41908	MGI:3802945	-	-	yes	no	no	no	NA
SAP30	HGNC:10532	MGI:1929129	-	-	yes	no	no	no	NA
SAP30BP	HGNC:30785	MGI:1927479	-	-	no	no	no	no	NA
SAP30L	HGNC:25663	MGI:1354709	-	-	no	no	no	no	NA
SAPCD1	HGNC:13938	MGI:2388100	-	-	yes	no	no	no	NA
SAPCD2	HGNC:28055	MGI:1919330	-	-	no	no	no	no	NA
SAR1A	HGNC:10534	MGI:98230	-	-	no	no	no	no	NA
SAR1B	HGNC:10535	MGI:1913647	OMIM:246700|ORPHA:71	Chylomicron Retention Disease	yes	yes	yes	yes	68.23
SARAF	HGNC:28789	MGI:1915137	-	-	yes	no	no	no	NA
SARDH	HGNC:10536	MGI:2183102	OMIM:268900|ORPHA:3129	Sarcosinemia	yes	no	yes	no	NA
SARM1	HGNC:17074	MGI:2136419	-	-	no	no	no	no	NA
SARNP	HGNC:24432	MGI:1913368	-	-	yes	no	no	no	NA
SARS1	HGNC:10537	MGI:102809	OMIM:617709|ORPHA:2512|ORPHA:88616	Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures|Autosomal Recessive Primary Microcephaly|Autosomal Recessive Non-Syndromic Intellectual Disability	yes	yes	yes	no	NA
SARS2	HGNC:17697	MGI:1919234	OMIM:613845|ORPHA:363694	Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome|Hyperuricemia-Pulmonary Hypertension-Renal Failure-Alkalosis Syndrome	no	no	no	no	NA
SART1	HGNC:10538	MGI:1309453	-	-	yes	no	no	no	NA
SART3	HGNC:16860	MGI:1858230	-	-	yes	no	no	no	NA
SASH1	HGNC:19182	MGI:1917347	OMIM:618373|OMIM:127500|ORPHA:231040|ORPHA:447961	Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma|Dyschromatosis Universalis Hereditaria 1|Familial Generalized Lentiginosis|Pigmentation Defects-Palmoplantar Keratoderma-Skin Carcinoma Syndrome	yes	yes	yes	yes	12.78
SASH3	HGNC:15975	MGI:1921381	OMIM:301082	Immunodeficiency 102	no	no	no	no	NA
SASS6	HGNC:25403	MGI:1920026	OMIM:616402|ORPHA:2512	Microcephaly 14, Primary, Autosomal Recessive|Autosomal Recessive Primary Microcephaly	no	no	no	no	NA
SAT1	HGNC:10540	MGI:98233	ORPHA:2340|ORPHA:93552	Keratosis Follicularis Spinulosa Decalvans|Pediatric Systemic Lupus Erythematosus	no	no	no	no	NA
SAT2	HGNC:23160	MGI:1916465	-	-	no	no	no	no	NA
SATB1	HGNC:10541	MGI:105084	OMIM:619228|OMIM:619229|ORPHA:528084	Developmental Delay With Dysmorphic Facies And Dental Anomalies|Den Hoed-De Boer-Voisin Syndrome|Non-Specific Syndromic Intellectual Disability	yes	yes	yes	yes	44.88
SATB2	HGNC:21637	MGI:2679336	OMIM:612313|ORPHA:251019|ORPHA:251028|ORPHA:576283	Glass Syndrome|2Q32Q33 Microdeletion Syndrome|Satb2-Associated Syndrome Due To A Chromosomal Rearrangement|Satb2-Associated Syndrome Due To A Pathogenic Variant	yes	yes	yes	yes	21.92
SATL1	HGNC:27992	MGI:1921059	-	-	no	no	no	no	NA
SAV1	HGNC:17795	MGI:1927144	-	-	no	no	no	no	NA
SAXO1	HGNC:28566	MGI:1923061	-	-	yes	no	no	no	NA
SAXO2	HGNC:33727	MGI:1914618	-	-	no	no	no	no	NA
SAXO4	HGNC:28869	MGI:1915002	-	-	yes	no	no	no	NA
SAXO5	HGNC:24745	MGI:1923656	-	-	yes	no	no	no	NA
SAYSD1	HGNC:21025	MGI:1914759	-	-	yes	no	no	no	NA
SBDS	HGNC:19440	MGI:1913961	OMIM:609135|OMIM:260400|ORPHA:811|ORPHA:88|ORPHA:622934	Aplastic Anemia|Shwachman-Diamond Syndrome 1|Shwachman-Diamond Syndrome|Idiopathic Aplastic Anemia|Sbds-Related Severe Neonatal Spondylometaphyseal Dysplasia	no	no	no	no	NA
SBF1	HGNC:10542	MGI:1925230	OMIM:615284|ORPHA:363981	Charcot-Marie-Tooth Disease, Type 4B3|Charcot-Marie-Tooth Disease Type 4B3	yes	yes	yes	yes	17.98
SBF2	HGNC:2135	MGI:1921831	OMIM:604563|ORPHA:99956	Charcot-Marie-Tooth Disease, Type 4B2|Charcot-Marie-Tooth Disease Type 4B2	no	no	no	no	NA
SBK1	HGNC:17699	MGI:2135937	-	-	yes	no	no	no	NA
SBK2	HGNC:34416	MGI:2685925	-	-	yes	no	no	no	NA
SBK3	HGNC:44121	MGI:2685924	-	-	no	no	no	no	NA
SBNO1	HGNC:22973	MGI:2384298	-	-	yes	no	no	no	NA
SBNO2	HGNC:29158	MGI:2448490	-	-	no	no	no	no	NA
SBSN	HGNC:24950	MGI:2446326	-	-	yes	no	no	no	NA
SBSPON	HGNC:30362	MGI:2684952	-	-	yes	no	no	no	NA
SC5D	HGNC:10547	MGI:1353611	OMIM:607330|ORPHA:46059	Lathosterolosis	no	no	no	no	NA
SCAF1	HGNC:30403	MGI:2141980	-	-	no	no	no	no	NA
SCAF11	HGNC:10784	MGI:1919443	-	-	yes	no	no	no	NA
SCAF4	HGNC:19304	MGI:2146350	OMIM:620511|ORPHA:528084	Fliedner-Zweier Syndrome|Non-Specific Syndromic Intellectual Disability	no	no	no	no	NA
SCAF8	HGNC:20959	MGI:1925212	-	-	no	no	no	no	NA
SCAI	HGNC:26709	MGI:2443716	-	-	no	no	no	no	NA
SCAMP1	HGNC:10563	MGI:1349480	-	-	no	no	no	no	NA
SCAMP2	HGNC:10564	MGI:1346518	-	-	yes	no	no	no	NA
SCAMP3	HGNC:10565	MGI:1346346	-	-	no	no	no	no	NA
SCAMP4	HGNC:30385	MGI:1928947	-	-	yes	no	no	no	NA
SCAMP5	HGNC:30386	MGI:1928948	-	-	yes	no	no	no	NA
SCAND1	HGNC:10566	MGI:1343132	-	-	yes	no	no	no	NA
SCAP	HGNC:30634	MGI:2135958	-	-	no	no	no	no	NA
SCAPER	HGNC:13081	MGI:1925976	OMIM:618195|ORPHA:791|ORPHA:110	Intellectual Developmental Disorder And Retinitis Pigmentosa|Retinitis Pigmentosa|Bardet-Biedl Syndrome	yes	yes	yes	yes	21.92
SCARA3	HGNC:19000	MGI:2444418	-	-	yes	no	no	no	NA
SCARA5	HGNC:28701	MGI:1918395	-	-	no	no	no	no	NA
SCARB1	HGNC:1664	MGI:893578	OMIM:610762	High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6	yes	yes	no	no	NA
SCARB2	HGNC:1665	MGI:1196458	OMIM:254900|ORPHA:163696|ORPHA:308|ORPHA:77259	Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure|Action Myoclonus-Renal Failure Syndrome|Progressive Myoclonic Epilepsy Type 1|Gaucher Disease Type 1	yes	yes	yes	yes	46.315
SCARF1	HGNC:16820	MGI:2449455	-	-	no	no	no	no	NA
SCARF2	HGNC:19869	MGI:1858430	OMIM:600920|ORPHA:2460	Van Den Ende-Gupta Syndrome	yes	yes	yes	yes	36.545
SCCPDH	HGNC:24275	MGI:1924486	-	-	yes	no	no	no	NA
SCEL	HGNC:10573	MGI:1891228	-	-	yes	no	no	no	NA
SCFD1	HGNC:20726	MGI:1924233	-	-	yes	no	no	no	NA
SCFD2	HGNC:30676	MGI:2443446	-	-	yes	no	no	no	NA
SCG2	HGNC:10575	MGI:103033	-	-	yes	no	no	no	NA
SCG3	HGNC:13707	MGI:103032	-	-	yes	no	no	no	NA
SCG5	HGNC:10816	MGI:98289	-	-	yes	no	no	no	NA
SCGB1A1	HGNC:12523	MGI:98919	-	-	no	no	no	no	NA
SCGB3A1	HGNC:18384	MGI:1915912	-	-	yes	no	no	no	NA
SCGB3A2	HGNC:18391	MGI:2153470	OMIM:600807	Asthma, Susceptibility To	no	no	no	no	NA
SCGN	HGNC:16941	MGI:2384873	-	-	no	no	no	no	NA
SCHIP1	HGNC:15678	MGI:1353557	-	-	no	no	no	no	NA
SCIMP	HGNC:33504	MGI:3610314	-	-	yes	no	no	no	NA
SCIN	HGNC:21695	MGI:1306794	-	-	yes	no	no	no	NA
SCLT1	HGNC:26406	MGI:1914411	ORPHA:110	Bardet-Biedl Syndrome	yes	yes	yes	yes	37.395
SCLY	HGNC:18161	MGI:1355310	-	-	no	no	no	no	NA
SCMH1	HGNC:19003	MGI:1352762	-	-	yes	no	no	no	NA
SCML2	HGNC:10581	MGI:1340042	-	-	yes	no	no	no	NA
SCML4	HGNC:21397	MGI:2446140	-	-	yes	no	no	no	NA
SCN10A	HGNC:10582	MGI:108029	OMIM:615551|ORPHA:306577|ORPHA:130|ORPHA:46348|ORPHA:90026|ORPHA:88642|ORPHA:101016	Episodic Pain Syndrome, Familial, 2|Sodium Channelopathy-Related Small Fiber Neuropathy|Brugada Syndrome|Paroxysmal Extreme Pain Disorder|Primary Erythromelalgia|Congenital Insensitivity To Pain-Anosmia-Neuropathic Arthropathy|Romano-Ward Syndrome	no	no	no	no	NA
SCN11A	HGNC:10583	MGI:1345149	OMIM:615552|OMIM:615548|ORPHA:306577|ORPHA:391392|ORPHA:391397|ORPHA:46348|ORPHA:90026|ORPHA:88642	Episodic Pain Syndrome, Familial, 3|Neuropathy, Hereditary Sensory And Autonomic, Type Vii|Sodium Channelopathy-Related Small Fiber Neuropathy|Familial Episodic Pain Syndrome With Predominantly Lower Limb Involvement|Hereditary Sensory And Autonomic Neuropathy Type 7|Paroxysmal Extreme Pain Disorder|Primary Erythromelalgia|Congenital Insensitivity To Pain-Anosmia-Neuropathic Arthropathy	yes	yes	yes	no	NA
SCN1A	HGNC:10585	MGI:98246	OMIM:619317|OMIM:607208|OMIM:604403|OMIM:609634|ORPHA:2382|ORPHA:1942|ORPHA:569|ORPHA:293181|ORPHA:36387|ORPHA:33069	Developmental And Epileptic Encephalopathy 6B|Dravet Syndrome|Generalized Epilepsy With Febrile Seizures Plus, Type 2|Migraine, Familial Hemiplegic, 3|Lennox-Gastaut Syndrome|Myoclonic-Astatic Epilepsy|Familial Or Sporadic Hemiplegic Migraine|Malignant Migrating Focal Seizures Of Infancy|Generalized Epilepsy With Febrile Seizures-Plus	no	no	no	no	NA
SCN1B	HGNC:10586	MGI:98247	OMIM:615377|OMIM:612838|OMIM:617350|OMIM:604233|ORPHA:1934|ORPHA:871|ORPHA:130|ORPHA:334|ORPHA:36387|ORPHA:33069	Atrial Fibrillation, Familial, 13|Brugada Syndrome 5|Developmental And Epileptic Encephalopathy 52|Generalized Epilepsy With Febrile Seizures Plus, Type 1|Early Infantile Epileptic Encephalopathy|Familial Progressive Cardiac Conduction Defect|Brugada Syndrome|Familial Atrial Fibrillation|Generalized Epilepsy With Febrile Seizures-Plus|Dravet Syndrome	yes	yes	yes	no	NA
SCN2A	HGNC:10588	MGI:98248	OMIM:613721|OMIM:618924|OMIM:607745|ORPHA:1934|ORPHA:3451|ORPHA:140927|ORPHA:306|ORPHA:293181|ORPHA:36387|ORPHA:33069	Developmental And Epileptic Encephalopathy 11|Episodic Ataxia, Type 9|Seizures, Benign Familial Infantile, 3|Early Infantile Epileptic Encephalopathy|Infantile Spasms Syndrome|Benign Familial Neonatal-Infantile Seizures|Benign Familial Infantile Epilepsy|Malignant Migrating Focal Seizures Of Infancy|Generalized Epilepsy With Febrile Seizures-Plus|Dravet Syndrome	no	no	no	no	NA
SCN2B	HGNC:10589	MGI:106921	OMIM:615378|ORPHA:130|ORPHA:334	Atrial Fibrillation, Familial, 14|Brugada Syndrome|Familial Atrial Fibrillation	yes	yes	yes	no	NA
SCN3A	HGNC:10590	MGI:98249	OMIM:617938|OMIM:617935|ORPHA:442835	Developmental And Epileptic Encephalopathy 62|Epilepsy, Familial Focal, With Variable Foci 4|Non-Specific Early-Onset Epileptic Encephalopathy	no	no	no	no	NA
SCN3B	HGNC:20665	MGI:1918882	OMIM:613120|ORPHA:130|ORPHA:334	Brugada Syndrome 7|Brugada Syndrome|Familial Atrial Fibrillation	yes	yes	yes	no	NA
SCN4A	HGNC:10591	MGI:98250	OMIM:620351|OMIM:620369|OMIM:170500|OMIM:613345|OMIM:614198|OMIM:608390|OMIM:168300|ORPHA:684|ORPHA:682|ORPHA:681|ORPHA:99734|ORPHA:99735|ORPHA:99736|ORPHA:98913	Congenital Myopathy 22A, Classic|Congenital Myopathy 22B, Severe Fetal|Hyperkalemic Periodic Paralysis|Hypokalemic Periodic Paralysis, Type 2|Myasthenic Syndrome, Congenital, 16|Myotonia, Potassium-Aggravated|Paramyotonia Congenita|Paramyotonia Congenita Of Von Eulenburg|Hypokalemic Periodic Paralysis|Myotonia Fluctuans|Myotonia Permanens|Acetazolamide-Responsive Myotonia|Postsynaptic Congenital Myasthenic Syndromes	yes	yes	yes	yes	41.45
SCN4B	HGNC:10592	MGI:2687406	OMIM:611819|ORPHA:334|ORPHA:101016	Long Qt Syndrome 10|Familial Atrial Fibrillation|Romano-Ward Syndrome	yes	yes	yes	no	NA
SCN5A	HGNC:10593	MGI:98251	OMIM:614022|OMIM:601144|OMIM:601154|OMIM:113900|OMIM:603830|OMIM:608567|OMIM:603829|OMIM:272120|ORPHA:166282|ORPHA:154|ORPHA:1344|ORPHA:871|ORPHA:228140|ORPHA:130|ORPHA:334|ORPHA:101016	Atrial Fibrillation, Familial, 10|Brugada Syndrome 1|Cardiomyopathy, Dilated, 1E|Progressive Familial Heart Block, Type Ia|Long Qt Syndrome 3|Sick Sinus Syndrome 1|Ventricular Fibrillation, Paroxysmal Familial, 1|Sudden Infant Death Syndrome|Familial Sick Sinus Syndrome|Familial Isolated Dilated Cardiomyopathy|Atrial Standstill|Familial Progressive Cardiac Conduction Defect|Idiopathic Ventricular Fibrillation, Non Brugada Type|Brugada Syndrome|Familial Atrial Fibrillation|Romano-Ward Syndrome	no	no	no	no	NA
SCN7A	HGNC:10594	MGI:102965	-	-	no	no	no	no	NA
SCN8A	HGNC:10596	MGI:103169	OMIM:618364|OMIM:614306|OMIM:614558|OMIM:617080|ORPHA:178469|ORPHA:306|ORPHA:442835|ORPHA:31709	Myoclonus, Familial, 2|Cognitive Impairment With Or Without Cerebellar Ataxia|Developmental And Epileptic Encephalopathy 13|Seizures, Benign Familial Infantile, 5|Autosomal Dominant Non-Syndromic Intellectual Disability|Benign Familial Infantile Epilepsy|Non-Specific Early-Onset Epileptic Encephalopathy|Infantile Convulsions And Choreoathetosis	yes	yes	yes	no	NA
SCN9A	HGNC:10597	MGI:107636	OMIM:133020|OMIM:243000|OMIM:167400|ORPHA:970|ORPHA:306577|ORPHA:36387|ORPHA:33069|ORPHA:46348|ORPHA:90026|ORPHA:88642	Erythermalgia, Primary|Indifference To Pain, Congenital, Autosomal Recessive|Paroxysmal Extreme Pain Disorder|Hereditary Sensory And Autonomic Neuropathy Type 2|Sodium Channelopathy-Related Small Fiber Neuropathy|Generalized Epilepsy With Febrile Seizures-Plus|Dravet Syndrome|Primary Erythromelalgia|Congenital Insensitivity To Pain-Anosmia-Neuropathic Arthropathy	no	no	no	no	NA
SCNM1	HGNC:23136	MGI:1341284	OMIM:620107	Orofaciodigital Syndrome Xix	no	no	no	no	NA
SCNN1A	HGNC:10599	MGI:101782	OMIM:618126|OMIM:613021|OMIM:264350|ORPHA:171876|ORPHA:526|ORPHA:130|ORPHA:60033	Liddle Syndrome 3|Bronchiectasis With Or Without Elevated Sweat Chloride 2|Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive|Generalized Pseudohypoaldosteronism Type 1|Liddle Syndrome|Brugada Syndrome|Idiopathic Bronchiectasis	no	no	no	no	NA
SCNN1B	HGNC:10600	MGI:104696	OMIM:211400|OMIM:177200|OMIM:620125|ORPHA:171876|ORPHA:526|ORPHA:60033	Bronchiectasis With Or Without Elevated Sweat Chloride 1|Liddle Syndrome 1|Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive|Generalized Pseudohypoaldosteronism Type 1|Liddle Syndrome|Idiopathic Bronchiectasis	yes	yes	yes	yes	21.95
SCNN1G	HGNC:10602	MGI:104695	OMIM:613071|OMIM:618114|OMIM:620126|ORPHA:171876|ORPHA:526|ORPHA:60033	Bronchiectasis With Or Without Elevated Sweat Chloride 3|Liddle Syndrome 2|Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive|Generalized Pseudohypoaldosteronism Type 1|Liddle Syndrome|Idiopathic Bronchiectasis	no	no	no	no	NA
SCO1	HGNC:10603	MGI:106362	OMIM:619048|ORPHA:1561	Mitochondrial Complex Iv Deficiency, Nuclear Type 4|Fatal Infantile Cytochrome C Oxidase Deficiency	yes	no	yes	no	NA
SCO2	HGNC:10604	MGI:3818630	OMIM:604377|OMIM:608908|ORPHA:1561|ORPHA:521411|ORPHA:98619	Mitochondrial Complex Iv Deficiency, Nuclear Type 2|Myopia 6|Fatal Infantile Cytochrome C Oxidase Deficiency|Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect|Rare Isolated Myopia	no	no	no	no	NA
SCOC	HGNC:20335	MGI:1927654	-	-	yes	no	no	no	NA
SCP2	HGNC:10606	MGI:98254	OMIM:613724|ORPHA:163684	Leukoencephalopathy With Dystonia And Motor Neuropathy|Leukoencephalopathy-Dystonia-Motor Neuropathy Syndrome	no	no	no	no	NA
SCP2D1	HGNC:16211	MGI:1913578	-	-	no	no	no	no	NA
SCPEP1	HGNC:29507	MGI:1921867	-	-	no	no	no	no	NA
SCRG1	HGNC:17036	MGI:1328308	-	-	no	no	no	no	NA
SCRIB	HGNC:30377	MGI:2145950	-	-	yes	no	no	no	NA
SCRN1	HGNC:22192	MGI:1917188	-	-	yes	no	no	no	NA
SCRN2	HGNC:30381	MGI:1343092	-	-	yes	no	no	no	NA
SCRN3	HGNC:30382	MGI:1921866	-	-	yes	no	no	no	NA
SCRT1	HGNC:15950	MGI:2176606	-	-	no	no	no	no	NA
SCRT2	HGNC:15952	MGI:2139287	-	-	no	no	no	no	NA
SCT	HGNC:10607	MGI:99466	-	-	no	no	no	no	NA
SCTR	HGNC:10608	MGI:2441720	-	-	no	no	no	no	NA
SCUBE1	HGNC:13441	MGI:1890616	-	-	yes	no	no	no	NA
SCUBE2	HGNC:30425	MGI:1928765	-	-	no	no	no	no	NA
SCUBE3	HGNC:13655	MGI:3045253	OMIM:619184	Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	no	no	no	no	NA
SCX	HGNC:32322	MGI:102934	-	-	yes	no	no	no	NA
SCYL1	HGNC:14372	MGI:1931787	OMIM:616719|ORPHA:466794	Spinocerebellar Ataxia, Autosomal Recessive 21|Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	no	no	no	no	NA
SCYL2	HGNC:19286	MGI:1289172	OMIM:618766|ORPHA:1143	Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum|Neurogenic Arthrogryposis Multiplex Congenita	no	no	no	no	NA
SCYL3	HGNC:19285	MGI:1921385	-	-	no	no	no	no	NA
SDAD1	HGNC:25537	MGI:2140779	-	-	no	no	no	no	NA
SDC1	HGNC:10658	MGI:1349162	-	-	yes	no	no	no	NA
SDC2	HGNC:10659	MGI:1349165	-	-	yes	no	no	no	NA
SDC3	HGNC:10660	MGI:1349163	OMIM:601665	Obesity	yes	yes	yes	no	NA
SDC4	HGNC:10661	MGI:1349164	-	-	yes	no	no	no	NA
SDCBP	HGNC:10662	MGI:1337026	-	-	no	no	no	no	NA
SDCBP2	HGNC:15756	MGI:2385156	-	-	yes	no	no	no	NA
SDCCAG8	HGNC:10671	MGI:1924066	OMIM:615993|OMIM:613615|ORPHA:3156|ORPHA:110	Bardet-Biedl Syndrome 16|Senior-Loken Syndrome 7|Senior-Loken Syndrome|Bardet-Biedl Syndrome	no	no	no	no	NA
SDE2	HGNC:26643	MGI:2384788	-	-	no	no	no	no	NA
SDF2	HGNC:10675	MGI:108019	-	-	no	no	no	no	NA
SDF2L1	HGNC:10676	MGI:2149842	-	-	yes	no	no	no	NA
SDF4	HGNC:24188	MGI:108079	-	-	no	no	no	no	NA
SDHA	HGNC:10680	MGI:1914195	OMIM:613642|OMIM:252011|OMIM:619259|OMIM:614165|ORPHA:154|ORPHA:3208|ORPHA:29072|ORPHA:44890	Cardiomyopathy, Dilated, 1Gg|Mitochondrial Complex Ii Deficiency, Nuclear Type 1|Neurodegeneration With Ataxia And Late-Onset Optic Atrophy|Pheochromocytoma/Paraganglioma Syndrome 5|Familial Isolated Dilated Cardiomyopathy|Isolated Succinate-Coq Reductase Deficiency|Hereditary Pheochromocytoma-Paraganglioma|Gastrointestinal Stromal Tumor	yes	yes	yes	yes	32.57
SDHAF1	HGNC:33867	MGI:1915582	OMIM:619166|ORPHA:3208	Mitochondrial Complex Ii Deficiency, Nuclear Type 2|Isolated Succinate-Coq Reductase Deficiency	yes	no	yes	no	NA
SDHAF2	HGNC:26034	MGI:1913322	OMIM:601650|ORPHA:29072	Pheochromocytoma/Paraganglioma Syndrome 2|Hereditary Pheochromocytoma-Paraganglioma	yes	yes	yes	no	NA
SDHAF3	HGNC:21752	MGI:1913288	-	-	yes	no	no	no	NA
SDHAF4	HGNC:20957	MGI:1915252	-	-	no	no	no	no	NA
SDHB	HGNC:10681	MGI:1914930	OMIM:606764|OMIM:619224|OMIM:606864|OMIM:115310|ORPHA:201|ORPHA:276621|ORPHA:3208|ORPHA:29072|ORPHA:44890|ORPHA:97286	Gastrointestinal Stromal Tumor|Mitochondrial Complex Ii Deficiency, Nuclear Type 4|Paraganglioma And Gastric Stromal Sarcoma|Pheochromocytoma/Paraganglioma Syndrome 4|Cowden Syndrome|Sporadic Pheochromocytoma/Secreting Paraganglioma|Isolated Succinate-Coq Reductase Deficiency|Hereditary Pheochromocytoma-Paraganglioma|Carney-Stratakis Syndrome	yes	yes	yes	yes	31.145
SDHC	HGNC:10682	MGI:1913302	OMIM:606764|OMIM:606864|OMIM:605373|ORPHA:201|ORPHA:29072|ORPHA:44890|ORPHA:97286	Gastrointestinal Stromal Tumor|Paraganglioma And Gastric Stromal Sarcoma|Pheochromocytoma/Paraganglioma Syndrome 3|Cowden Syndrome|Hereditary Pheochromocytoma-Paraganglioma|Carney-Stratakis Syndrome	yes	yes	yes	yes	23.305
SDHD	HGNC:10683	MGI:1914175	OMIM:619167|OMIM:606864|OMIM:168000|ORPHA:201|ORPHA:276621|ORPHA:3208|ORPHA:29072|ORPHA:97286|ORPHA:100093	Mitochondrial Complex Ii Deficiency, Nuclear Type 3|Paraganglioma And Gastric Stromal Sarcoma|Pheochromocytoma/Paraganglioma Syndrome 1|Cowden Syndrome|Sporadic Pheochromocytoma/Secreting Paraganglioma|Isolated Succinate-Coq Reductase Deficiency|Hereditary Pheochromocytoma-Paraganglioma|Carney-Stratakis Syndrome|Carcinoid Syndrome	no	no	no	no	NA
SDK1	HGNC:19307	MGI:2444413	-	-	yes	no	no	no	NA
SDK2	HGNC:19308	MGI:2443847	-	-	no	no	no	no	NA
SDR16C5	HGNC:30311	MGI:2668443	-	-	no	no	no	no	NA
SDR39U1	HGNC:20275	MGI:1916876	-	-	no	no	no	no	NA
SDR42E1	HGNC:29834	MGI:1921282	-	-	yes	no	no	no	NA
SDR42E2	HGNC:35414	MGI:3645276	-	-	no	no	no	no	NA
SDR9C7	HGNC:29958	MGI:1917311	OMIM:617574|ORPHA:313|ORPHA:79394	Ichthyosis, Congenital, Autosomal Recessive 13|Lamellar Ichthyosis|Congenital Ichthyosiform Erythroderma	yes	no	yes	no	NA
SDS	HGNC:10691	MGI:98270	-	-	no	no	no	no	NA
SDSL	HGNC:30404	MGI:2182607	-	-	yes	no	no	no	NA
SEBOX	HGNC:32942	MGI:108012	-	-	yes	no	no	no	NA
SEC11A	HGNC:17718	MGI:1929464	-	-	no	no	no	no	NA
SEC11C	HGNC:23400	MGI:1913536	-	-	yes	no	no	no	NA
SEC13	HGNC:10697	MGI:99832	-	-	yes	no	no	no	NA
SEC14L1	HGNC:10698	MGI:1921386	-	-	yes	no	no	no	NA
SEC14L2	HGNC:10699	MGI:1915065	-	-	no	no	no	no	NA
SEC14L3	HGNC:18655	MGI:3617848	-	-	no	no	no	no	NA
SEC14L4	HGNC:20627	MGI:2144095	-	-	yes	no	no	no	NA
SEC14L5	HGNC:29032	MGI:3616084	-	-	yes	no	no	no	NA
SEC16A	HGNC:29006	MGI:2139207	-	-	no	no	no	no	NA
SEC16B	HGNC:30301	MGI:2148802	-	-	yes	no	no	no	NA
SEC22A	HGNC:20260	MGI:2447876	-	-	no	no	no	no	NA
SEC22B	HGNC:10700	MGI:1338759	-	-	yes	no	no	no	NA
SEC22C	HGNC:16828	MGI:2447871	-	-	no	no	no	no	NA
SEC23A	HGNC:10701	MGI:1349635	OMIM:607812|ORPHA:50814	Craniolenticulosutural Dysplasia	yes	yes	yes	no	NA
SEC23B	HGNC:10702	MGI:1350925	OMIM:616858|OMIM:224100|ORPHA:201|ORPHA:98873	Cowden Syndrome 7|Anemia, Congenital Dyserythropoietic, Type Ii|Cowden Syndrome|Congenital Dyserythropoietic Anemia Type Ii	no	no	no	no	NA
SEC23IP	HGNC:17018	MGI:2450915	-	-	no	no	no	no	NA
SEC24A	HGNC:10703	MGI:1924621	-	-	yes	no	no	no	NA
SEC24B	HGNC:10704	MGI:2139764	-	-	yes	no	no	no	NA
SEC24C	HGNC:10705	MGI:1919746	ORPHA:567	22Q11.2 Deletion Syndrome	no	no	no	no	NA
SEC24D	HGNC:10706	MGI:1916858	OMIM:616294|ORPHA:2050|ORPHA:216796	Cole-Carpenter Syndrome 2|Cole-Carpenter Syndrome|Osteogenesis Imperfecta Type 1	yes	yes	yes	yes	14.995
SEC31A	HGNC:17052	MGI:1916412	OMIM:618651	Halperin-Birk Syndrome	yes	yes	yes	yes	25.385
SEC31B	HGNC:23197	MGI:2685187	-	-	yes	no	no	no	NA
SEC61A1	HGNC:18276	MGI:1858417	OMIM:617056	Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	no	no	no	no	NA
SEC61A2	HGNC:17702	MGI:1931071	-	-	yes	no	no	no	NA
SEC61B	HGNC:16993	MGI:1913462	-	-	yes	no	no	no	NA
SEC61G	HGNC:18277	MGI:1202066	-	-	no	no	no	no	NA
SEC62	HGNC:11846	MGI:1916526	-	-	yes	no	no	no	NA
SEC63	HGNC:21082	MGI:2155302	OMIM:617004|ORPHA:2924	Polycystic Liver Disease 2 With Or Without Kidney Cysts|Isolated Polycystic Liver Disease	yes	yes	yes	yes	23.685
SECISBP2	HGNC:30972	MGI:1922670	OMIM:609698|ORPHA:171706	Thyroid Hormone Metabolism, Abnormal, 1|Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	yes	yes	yes	yes	23.095
SECISBP2L	HGNC:28997	MGI:1917604	-	-	yes	no	no	no	NA
SEH1L	HGNC:30379	MGI:1919374	-	-	yes	no	no	no	NA
SEL1L	HGNC:10717	MGI:1329016	-	-	yes	no	no	no	NA
SEL1L2	HGNC:15897	MGI:2684964	-	-	no	no	no	no	NA
SEL1L3	HGNC:29108	MGI:1916941	-	-	yes	no	no	no	NA
SELE	HGNC:10718	MGI:98278	-	-	no	no	no	no	NA
SELENOF	HGNC:17705	MGI:1927947	-	-	no	no	no	no	NA
SELENOH	HGNC:18251	MGI:1919907	-	-	no	no	no	no	NA
SELENOI	HGNC:29361	MGI:107898	OMIM:618768|ORPHA:506353	Spastic Paraplegia 81, Autosomal Recessive|Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	no	no	no	no	NA
SELENOK	HGNC:30394	MGI:1931466	-	-	yes	no	no	no	NA
SELENOM	HGNC:30397	MGI:2149786	-	-	no	no	no	no	NA
SELENON	HGNC:15999	MGI:2151208	OMIM:602771|ORPHA:2020|ORPHA:324604|ORPHA:84132|ORPHA:97244	Congenital Myopathy 3 With Rigid Spine|Congenital Fiber-Type Disproportion Myopathy|Classic Multiminicore Myopathy|Desmin-Related Myopathy With Mallory Body-Like Inclusions|Rigid Spine Syndrome	yes	yes	yes	yes	35.3
SELENOO	HGNC:30395	MGI:1919007	-	-	no	no	no	no	NA
SELENOP	HGNC:10751	MGI:894288	-	-	no	no	no	no	NA
SELENOS	HGNC:30396	MGI:95994	-	-	no	no	no	no	NA
SELENOT	HGNC:18136	MGI:1916477	-	-	yes	no	no	no	NA
SELENOV	HGNC:30399	MGI:3608324	-	-	no	no	no	no	NA
SELENOW	HGNC:10752	MGI:1100878	-	-	yes	no	no	no	NA
SELL	HGNC:10720	MGI:98279	-	-	yes	no	no	no	NA
SELP	HGNC:10721	MGI:98280	-	-	no	no	no	no	NA
SELPLG	HGNC:10722	MGI:106689	-	-	no	no	no	no	NA
SEM1	HGNC:10845	MGI:109238	ORPHA:2440	Isolated Split Hand-Split Foot Malformation	no	no	no	no	NA
SEMA3A	HGNC:10723	MGI:107558	OMIM:614897|ORPHA:478|ORPHA:130	Hypogonadotropic Hypogonadism 16 With Or Without Anosmia|Kallmann Syndrome|Brugada Syndrome	no	no	no	no	NA
SEMA3B	HGNC:10724	MGI:107561	-	-	no	no	no	no	NA
SEMA3C	HGNC:10725	MGI:107557	ORPHA:388	Hirschsprung Disease	no	no	no	no	NA
SEMA3D	HGNC:10726	MGI:1860118	ORPHA:388	Hirschsprung Disease	yes	yes	yes	no	NA
SEMA3E	HGNC:10727	MGI:1340034	ORPHA:138	Charge Syndrome	yes	yes	yes	yes	32.805
SEMA3F	HGNC:10728	MGI:1096347	-	-	yes	no	no	no	NA
SEMA3G	HGNC:30400	MGI:3041242	-	-	no	no	no	no	NA
SEMA4A	HGNC:10729	MGI:107560	OMIM:610283|OMIM:610282|ORPHA:791|ORPHA:1872|ORPHA:440437	Cone-Rod Dystrophy 10|Retinitis Pigmentosa 35|Retinitis Pigmentosa|Cone Rod Dystrophy|Familial Colorectal Cancer Type X	no	no	no	no	NA
SEMA4B	HGNC:10730	MGI:107559	-	-	no	no	no	no	NA
SEMA4C	HGNC:10731	MGI:109252	-	-	no	no	no	no	NA
SEMA4D	HGNC:10732	MGI:109244	ORPHA:171	Primary Sclerosing Cholangitis	yes	yes	yes	yes	42.57
SEMA4F	HGNC:10734	MGI:1340055	-	-	no	no	no	no	NA
SEMA4G	HGNC:10735	MGI:1347047	-	-	no	no	no	no	NA
SEMA5A	HGNC:10736	MGI:107556	ORPHA:281	Monosomy 5P	no	no	no	no	NA
SEMA5B	HGNC:10737	MGI:107555	-	-	yes	no	no	no	NA
SEMA6A	HGNC:10738	MGI:1203727	-	-	yes	no	no	no	NA
SEMA6B	HGNC:10739	MGI:1202889	OMIM:618876|ORPHA:178469	Epilepsy, Progressive Myoclonic, 11|Autosomal Dominant Non-Syndromic Intellectual Disability	no	no	no	no	NA
SEMA6C	HGNC:10740	MGI:1338032	-	-	yes	no	no	no	NA
SEMA6D	HGNC:16770	MGI:2387661	-	-	no	no	no	no	NA
SEMA7A	HGNC:10741	MGI:1306826	OMIM:619874|OMIM:614745	Cholestasis, Progressive Familial Intrahepatic, 11|Blood Group, John Milton Hagen System	no	no	no	no	NA
SENP1	HGNC:17927	MGI:2445054	-	-	yes	no	no	no	NA
SENP2	HGNC:23116	MGI:1923076	-	-	no	no	no	no	NA
SENP3	HGNC:17862	MGI:2158736	-	-	yes	no	no	no	NA
SENP5	HGNC:28407	MGI:2443596	-	-	yes	no	no	no	NA
SENP6	HGNC:20944	MGI:1922075	-	-	yes	no	no	no	NA
SENP7	HGNC:30402	MGI:1913565	-	-	yes	no	no	no	NA
SENP8	HGNC:22992	MGI:1918849	-	-	yes	no	no	no	NA
SEPHS1	HGNC:19685	MGI:1923580	-	-	no	no	no	no	NA
SEPHS2	HGNC:19686	MGI:108388	-	-	yes	no	no	no	NA
SEPSECS	HGNC:30605	MGI:1098791	OMIM:613811|ORPHA:247198|ORPHA:2524	Pontocerebellar Hypoplasia, Type 2D|Progressive Cerebello-Cerebral Atrophy|Pontocerebellar Hypoplasia Type 2	yes	yes	yes	no	NA
SEPTIN1	HGNC:2879	MGI:1858916	-	-	no	no	no	no	NA
SEPTIN10	HGNC:14349	MGI:1918110	-	-	yes	no	no	no	NA
SEPTIN11	HGNC:25589	MGI:1277214	-	-	yes	no	no	no	NA
SEPTIN12	HGNC:26348	MGI:1918339	OMIM:614822|ORPHA:276234	Spermatogenic Failure 10|Non-Syndromic Male Infertility Due To Sperm Motility Disorder	no	no	no	no	NA
SEPTIN14	HGNC:33280	MGI:1921472	ORPHA:251576|ORPHA:251579	Gliosarcoma|Giant Cell Glioblastoma	yes	yes	no	no	NA
SEPTIN2	HGNC:7729	MGI:97298	-	-	yes	no	no	no	NA
SEPTIN3	HGNC:10750	MGI:1345148	-	-	yes	no	no	no	NA
SEPTIN4	HGNC:9165	MGI:1270156	ORPHA:171709	Male Infertility Due To Globozoospermia	no	no	no	no	NA
SEPTIN5	HGNC:9164	MGI:1195461	-	-	yes	no	no	no	NA
SEPTIN6	HGNC:15848	MGI:1888939	-	-	yes	no	no	no	NA
SEPTIN7	HGNC:1717	MGI:1335094	-	-	no	no	no	no	NA
SEPTIN8	HGNC:16511	MGI:894310	-	-	yes	no	no	no	NA
SEPTIN9	HGNC:7323	MGI:1858222	OMIM:162100|ORPHA:2901	Amyotrophy, Hereditary Neuralgic|Neuralgic Amyotrophy	no	no	no	no	NA
SERAC1	HGNC:21061	MGI:2447813	OMIM:614739|ORPHA:352328	3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome|Megdel Syndrome	yes	yes	yes	yes	27.585
SERBP1	HGNC:17860	MGI:1914120	-	-	no	no	no	no	NA
SERF1A	HGNC:10755	MGI:1337114	-	-	yes	no	no	no	NA
SERF2	HGNC:10757	MGI:1337041	-	-	yes	no	no	no	NA
SERGEF	HGNC:17499	MGI:1351630	-	-	no	no	no	no	NA
SERHL2	HGNC:29446	MGI:1890404	-	-	no	no	no	no	NA
SERINC1	HGNC:13464	MGI:1926228	-	-	no	no	no	no	NA
SERINC2	HGNC:23231	MGI:1919132	-	-	yes	no	no	no	NA
SERINC3	HGNC:11699	MGI:1349457	-	-	yes	no	no	no	NA
SERINC4	HGNC:32237	MGI:2441842	-	-	no	no	no	no	NA
SERINC5	HGNC:18825	MGI:2444223	-	-	yes	no	no	no	NA
SERP1	HGNC:10759	MGI:92638	-	-	no	no	no	no	NA
SERP2	HGNC:20607	MGI:1919911	-	-	yes	no	no	no	NA
SERPINA10	HGNC:15996	MGI:2667725	ORPHA:64738	Non Rare In Europe: Non Rare Thrombophilia	no	no	no	no	NA
SERPINA11	HGNC:19193	MGI:2685741	-	-	no	no	no	no	NA
SERPINA12	HGNC:18359	MGI:1915304	ORPHA:86923	Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	no	no	no	no	NA
SERPINA5	HGNC:8723	MGI:107817	-	-	yes	no	no	no	NA
SERPINA6	HGNC:1540	MGI:88278	OMIM:611489|ORPHA:199247	Corticosteroid-Binding Globulin Deficiency	no	no	no	no	NA
SERPINA7	HGNC:11583	MGI:3041197	OMIM:300932|ORPHA:209893	Thyroxine-Binding Globulin Quantitative Trait Locus|Non Rare In Europe: Congenital Isolated Thyroxine-Binding Globulin Deficiency	yes	no	no	no	NA
SERPINA9	HGNC:15995	MGI:1919157	-	-	no	no	no	no	NA
SERPINB11	HGNC:14221	MGI:1914207	-	-	no	no	no	no	NA
SERPINB12	HGNC:14220	MGI:1919119	-	-	yes	no	no	no	NA
SERPINB13	HGNC:8944	MGI:3042250	-	-	no	no	no	no	NA
SERPINB2	HGNC:8584	MGI:97609	-	-	yes	no	no	no	NA
SERPINB5	HGNC:8949	MGI:109579	-	-	yes	no	no	no	NA
SERPINB7	HGNC:13902	MGI:2151053	OMIM:615598|ORPHA:140966	Palmoplantar Keratoderma, Nagashima Type	no	no	no	no	NA
SERPINB8	HGNC:8952	MGI:894657	OMIM:617115|ORPHA:263548|ORPHA:289586	Peeling Skin Syndrome 5|Peeling Skin Syndrome Type A|Exfoliative Ichthyosis	no	no	no	no	NA
SERPINC1	HGNC:775	MGI:88095	OMIM:613118|ORPHA:82	Antithrombin Iii Deficiency|Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency	no	no	no	no	NA
SERPIND1	HGNC:4838	MGI:96051	OMIM:612356	Heparin Cofactor Ii Deficiency	no	no	no	no	NA
SERPINE1	HGNC:8583	MGI:97608	OMIM:613329|ORPHA:465	Plasminogen Activator Inhibitor-1 Deficiency|Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	yes	yes	yes	no	NA
SERPINE2	HGNC:8951	MGI:101780	-	-	no	no	no	no	NA
SERPINE3	HGNC:24774	MGI:2442020	-	-	yes	no	no	no	NA
SERPINF1	HGNC:8824	MGI:108080	OMIM:613982|ORPHA:216812|ORPHA:216820	Osteogenesis Imperfecta, Type Vi|Osteogenesis Imperfecta Type 3|Osteogenesis Imperfecta Type 4	yes	yes	yes	no	NA
SERPINF2	HGNC:9075	MGI:107173	OMIM:262850|ORPHA:79	Alpha-2-Plasmin Inhibitor Deficiency|Congenital Alpha2-Antiplasmin Deficiency	no	no	no	no	NA
SERPING1	HGNC:1228	MGI:894696	OMIM:106100|OMIM:120790|ORPHA:100051|ORPHA:100050	Angioedema, Hereditary, 1|Complement Component 4, Partial Deficiency Of|Hereditary Angioedema Type 2|Hereditary Angioedema Type 1	yes	yes	yes	yes	25.31
SERPINH1	HGNC:1546	MGI:88283	OMIM:613848|OMIM:610504|ORPHA:216812	Osteogenesis Imperfecta, Type X|Preterm Premature Rupture Of The Membranes|Osteogenesis Imperfecta Type 3	no	no	no	no	NA
SERPINI1	HGNC:8943	MGI:1194506	OMIM:604218|ORPHA:530303	Encephalopathy, Familial, With Neuroserpin Inclusion Bodies|Progressive Dementia With Neuroserpin Inclusion Bodies	no	no	no	no	NA
SERPINI2	HGNC:8945	MGI:1915181	-	-	no	no	no	no	NA
SERTAD1	HGNC:17932	MGI:1913438	-	-	no	no	no	no	NA
SERTAD2	HGNC:30784	MGI:1931026	-	-	no	no	no	no	NA
SERTAD3	HGNC:17931	MGI:2180697	-	-	yes	no	no	no	NA
SERTAD4	HGNC:25236	MGI:2443496	-	-	no	no	no	no	NA
SERTM1	HGNC:33792	MGI:3607715	-	-	no	no	no	no	NA
SERTM2	HGNC:48576	MGI:2442684	-	-	no	no	no	no	NA
SESN1	HGNC:21595	MGI:2155278	-	-	yes	no	no	no	NA
SESN2	HGNC:20746	MGI:2651874	-	-	no	no	no	no	NA
SESN3	HGNC:23060	MGI:1922997	-	-	yes	no	no	no	NA
SESTD1	HGNC:18379	MGI:1916262	-	-	no	no	no	no	NA
SETBP1	HGNC:15573	MGI:1933199	OMIM:616078|OMIM:269150|ORPHA:798|ORPHA:436151	Intellectual Developmental Disorder, Autosomal Dominant 29|Schinzel-Giedion Midface Retraction Syndrome|Schinzel-Giedion Syndrome|Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	yes	yes	yes	no	NA
SETD1A	HGNC:29010	MGI:2446244	OMIM:618832|OMIM:619056|ORPHA:528084	Epilepsy, Early-Onset, 2, With Or Without Developmental Delay|Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies|Non-Specific Syndromic Intellectual Disability	yes	yes	yes	yes	23.145
SETD1B	HGNC:29187	MGI:2652820	OMIM:619000|ORPHA:178469	Intellectual Developmental Disorder With Seizures And Language Delay|Autosomal Dominant Non-Syndromic Intellectual Disability	yes	yes	yes	no	NA
SETD2	HGNC:18420	MGI:1918177	OMIM:620157|OMIM:616831|OMIM:620155|ORPHA:821|ORPHA:597738|ORPHA:597743	Intellectual Developmental Disorder, Autosomal Dominant 70|Luscan-Lumish Syndrome|Rabin-Pappas Syndrome|Sotos Syndrome|Setd2-Related Microcephaly-Severe Intellectual Disability-Multiple Congenital Anomalies Syndrome	yes	yes	yes	yes	17.865
SETD3	HGNC:20493	MGI:1289184	-	-	yes	no	no	no	NA
SETD4	HGNC:1258	MGI:2136890	-	-	yes	no	no	no	NA
SETD5	HGNC:25566	MGI:1920145	OMIM:615761|ORPHA:404440	Intellectual Developmental Disorder, Autosomal Dominant 23|Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	yes	yes	yes	yes	43.865
SETD6	HGNC:26116	MGI:1913333	-	-	yes	no	no	no	NA
SETD7	HGNC:30412	MGI:1920501	-	-	no	no	no	no	NA
SETDB1	HGNC:10761	MGI:1934229	-	-	yes	no	no	no	NA
SETDB2	HGNC:20263	MGI:2685139	-	-	yes	no	no	no	NA
SETMAR	HGNC:10762	MGI:1921979	-	-	yes	no	no	no	NA
SETX	HGNC:445	MGI:2443480	OMIM:602433|OMIM:606002|ORPHA:357043|ORPHA:64753	Amyotrophic Lateral Sclerosis 4, Juvenile|Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2|Amyotrophic Lateral Sclerosis Type 4|Spinocerebellar Ataxia With Axonal Neuropathy Type 2	yes	yes	yes	no	NA
SEZ6	HGNC:15955	MGI:104745	-	-	yes	no	no	no	NA
SEZ6L	HGNC:10763	MGI:1935121	-	-	yes	no	no	no	NA
SEZ6L2	HGNC:30844	MGI:2385295	-	-	yes	no	no	no	NA
SF1	HGNC:12950	MGI:1095403	-	-	no	no	no	no	NA
SF3A1	HGNC:10765	MGI:1914715	-	-	no	no	no	no	NA
SF3A2	HGNC:10766	MGI:104912	-	-	no	no	no	no	NA
SF3A3	HGNC:10767	MGI:1922312	-	-	no	no	no	no	NA
SF3B1	HGNC:10768	MGI:1932339	OMIM:614286|ORPHA:75564|ORPHA:39044	Myelodysplastic Syndrome|Acquired Idiopathic Sideroblastic Anemia|Uveal Melanoma	no	no	no	no	NA
SF3B2	HGNC:10769	MGI:2441856	OMIM:164210	Craniofacial Microsomia 1	no	no	no	no	NA
SF3B3	HGNC:10770	MGI:1289341	-	-	yes	no	no	no	NA
SF3B4	HGNC:10771	MGI:109580	OMIM:154400|ORPHA:245|ORPHA:1788	Acrofacial Dysostosis 1, Nager Type|Nager Syndrome|Acrofacial Dysostosis, Rodríguez Type	no	no	no	no	NA
SF3B5	HGNC:21083	MGI:1913375	-	-	no	no	no	no	NA
SF3B6	HGNC:30096	MGI:1913305	-	-	no	no	no	no	NA
SFI1	HGNC:29064	MGI:1926137	-	-	no	no	no	no	NA
SFMBT1	HGNC:20255	MGI:1859609	-	-	yes	no	no	no	NA
SFMBT2	HGNC:20256	MGI:2447794	-	-	yes	no	no	no	NA
SFN	HGNC:10773	MGI:1891831	-	-	no	no	no	no	NA
SFPQ	HGNC:10774	MGI:1918764	ORPHA:319308	Mit Family Translocation Renal Cell Carcinoma	yes	yes	no	no	NA
SFR1	HGNC:29574	MGI:1915038	-	-	yes	no	no	no	NA
SFRP1	HGNC:10776	MGI:892014	-	-	yes	no	no	no	NA
SFRP2	HGNC:10777	MGI:108078	-	-	yes	no	no	no	NA
SFRP4	HGNC:10778	MGI:892010	OMIM:265900|ORPHA:3005	Pyle Disease	no	no	no	no	NA
SFRP5	HGNC:10779	MGI:1860298	-	-	yes	no	no	no	NA
SFSWAP	HGNC:10790	MGI:101760	-	-	yes	no	no	no	NA
SFT2D2	HGNC:25140	MGI:1917362	-	-	yes	no	no	no	NA
SFT2D3	HGNC:28767	MGI:1914408	-	-	no	no	no	no	NA
SFTA2	HGNC:18386	MGI:3643293	-	-	no	no	no	no	NA
SFTPB	HGNC:10801	MGI:109516	OMIM:265120|ORPHA:217563|ORPHA:70587	Surfactant Metabolism Dysfunction, Pulmonary, 1|Neonatal Acute Respiratory Distress Due To Sp-B Deficiency|Infant Acute Respiratory Distress Syndrome	no	no	no	no	NA
SFTPC	HGNC:10802	MGI:109517	OMIM:610913|ORPHA:217566|ORPHA:2032|ORPHA:440392|ORPHA:70587	Surfactant Metabolism Dysfunction, Pulmonary, 2|Chronic Respiratory Distress With Surfactant Metabolism Deficiency|Idiopathic Pulmonary Fibrosis|Interstitial Lung Disease Due To Sp-C Deficiency|Infant Acute Respiratory Distress Syndrome	no	no	no	no	NA
SFTPD	HGNC:10803	MGI:109515	-	-	no	no	no	no	NA
SFXN1	HGNC:16085	MGI:2137677	-	-	yes	no	no	no	NA
SFXN2	HGNC:16086	MGI:2137678	-	-	no	no	no	no	NA
SFXN3	HGNC:16087	MGI:2137679	-	-	yes	no	no	no	NA
SFXN4	HGNC:16088	MGI:2137680	OMIM:615578|ORPHA:391348	Combined Oxidative Phosphorylation Deficiency 18|Growth And Developmental Delay-Hypotonia-Vision Impairment-Lactic Acidosis Syndrome	yes	yes	yes	yes	27.74
SFXN5	HGNC:16073	MGI:2137681	-	-	yes	no	no	no	NA
SGCA	HGNC:10805	MGI:894698	OMIM:608099|ORPHA:62	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3|Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3	no	no	no	no	NA
SGCB	HGNC:10806	MGI:1346523	OMIM:604286|ORPHA:119	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4|Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	no	no	no	no	NA
SGCD	HGNC:10807	MGI:1346525	OMIM:606685|OMIM:601287|ORPHA:154|ORPHA:219	Cardiomyopathy, Dilated, 1L|Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6|Familial Isolated Dilated Cardiomyopathy|Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6	no	no	no	no	NA
SGCE	HGNC:10808	MGI:1329042	OMIM:159900|ORPHA:36899	Dystonia 11, Myoclonic|Myoclonus-Dystonia Syndrome	yes	yes	yes	no	NA
SGCG	HGNC:10809	MGI:1346524	OMIM:253700|ORPHA:353	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5|Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	no	no	no	no	NA
SGCZ	HGNC:14075	MGI:2388820	-	-	no	no	no	no	NA
SGF29	HGNC:25156	MGI:1922815	-	-	yes	no	no	no	NA
SGIP1	HGNC:25412	MGI:1920344	-	-	yes	no	no	no	NA
SGK1	HGNC:10810	MGI:1340062	-	-	no	no	no	no	NA
SGK2	HGNC:13900	MGI:1351318	-	-	yes	no	no	no	NA
SGK3	HGNC:10812	MGI:2182368	-	-	no	no	no	no	NA
SGMS1	HGNC:29799	MGI:2444110	-	-	yes	no	no	no	NA
SGMS2	HGNC:28395	MGI:1921692	OMIM:126550	Calvarial Doughnut Lesions With Bone Fragility	no	no	no	no	NA
SGO1	HGNC:25088	MGI:1919665	OMIM:616201|ORPHA:435988	Chronic Atrial And Intestinal Dysrhythmia|Chronic Atrial And Intestinal Dysrhythmia Syndrome	yes	yes	yes	no	NA
SGPL1	HGNC:10817	MGI:1261415	OMIM:617575|ORPHA:506334	Reni Syndrome|Familial Steroid-Resistant Nephrotic Syndrome With Adrenal Insufficiency	yes	yes	yes	yes	40.895
SGPP1	HGNC:17720	MGI:2135760	-	-	no	no	no	no	NA
SGPP2	HGNC:19953	MGI:3589109	-	-	no	no	no	no	NA
SGSH	HGNC:10818	MGI:1350341	OMIM:252900|ORPHA:79269	Mucopolysaccharidosis, Type Iiia|Sanfilippo Syndrome Type A	yes	yes	yes	yes	41.445
SGSM1	HGNC:29410	MGI:107320	-	-	yes	no	no	no	NA
SGSM2	HGNC:29026	MGI:2144695	-	-	yes	no	no	no	NA
SGSM3	HGNC:25228	MGI:1916329	-	-	yes	no	no	no	NA
SGTA	HGNC:10819	MGI:1098703	-	-	yes	no	no	no	NA
SGTB	HGNC:23567	MGI:2444615	-	-	yes	no	no	no	NA
SH2B1	HGNC:30417	MGI:1201407	ORPHA:261222|ORPHA:261197|ORPHA:329249	Distal 16P11.2 Microdeletion Syndrome|Proximal 16P11.2 Microdeletion Syndrome|Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	yes	yes	yes	yes	35.6
SH2B2	HGNC:17381	MGI:1345171	-	-	no	no	no	no	NA
SH2B3	HGNC:29605	MGI:893598	OMIM:133100|OMIM:254450|OMIM:187950|ORPHA:3318|ORPHA:391366	Erythrocytosis, Familial, 1|Myelofibrosis|Thrombocythemia 1|Essential Thrombocythemia|Growth Retardation-Mild Developmental Delay-Chronic Hepatitis Syndrome	no	no	no	no	NA
SH2D1A	HGNC:10820	MGI:1328352	OMIM:308240|ORPHA:538931	Lymphoproliferative Syndrome, X-Linked, 1|X-Linked Lymphoproliferative Disease Due To Sh2D1A Deficiency	no	no	no	no	NA
SH2D2A	HGNC:10821	MGI:1351596	-	-	no	no	no	no	NA
SH2D3C	HGNC:16884	MGI:1351631	-	-	no	no	no	no	NA
SH2D4A	HGNC:26102	MGI:1919531	-	-	no	no	no	no	NA
SH2D4B	HGNC:31440	MGI:1925182	-	-	no	no	no	no	NA
SH2D5	HGNC:28819	MGI:2446215	-	-	yes	no	no	no	NA
SH2D6	HGNC:30439	MGI:1918380	-	-	no	no	no	no	NA
SH2D7	HGNC:34549	MGI:2441692	-	-	yes	no	no	no	NA
SH3BGR	HGNC:10822	MGI:1354740	-	-	no	no	no	no	NA
SH3BGRL	HGNC:10823	MGI:1930849	-	-	no	no	no	no	NA
SH3BGRL2	HGNC:15567	MGI:1915350	-	-	no	no	no	no	NA
SH3BGRL3	HGNC:15568	MGI:1920973	-	-	yes	no	no	no	NA
SH3BP1	HGNC:10824	MGI:104603	-	-	no	no	no	no	NA
SH3BP2	HGNC:10825	MGI:1346349	OMIM:118400|ORPHA:184	Cherubism	yes	yes	yes	no	NA
SH3BP4	HGNC:10826	MGI:2138297	-	-	yes	no	no	no	NA
SH3BP5	HGNC:10827	MGI:1344391	-	-	yes	no	no	no	NA
SH3BP5L	HGNC:29360	MGI:1933124	-	-	no	no	no	no	NA
SH3D19	HGNC:30418	MGI:1350923	-	-	yes	no	no	no	NA
SH3D21	HGNC:26236	MGI:1914188	-	-	no	no	no	no	NA
SH3GL1	HGNC:10830	MGI:700010	OMIM:601626	Leukemia, Acute Myeloid	no	no	no	no	NA
SH3GL2	HGNC:10831	MGI:700009	-	-	yes	no	no	no	NA
SH3GL3	HGNC:10832	MGI:700011	-	-	no	no	no	no	NA
SH3GLB1	HGNC:10833	MGI:1859730	-	-	no	no	no	no	NA
SH3GLB2	HGNC:10834	MGI:2385131	-	-	no	no	no	no	NA
SH3KBP1	HGNC:13867	MGI:1889583	OMIM:300310	Immunodeficiency 61	yes	yes	yes	no	NA
SH3PXD2A	HGNC:23664	MGI:1298393	ORPHA:252128|ORPHA:252212	Malignant Peripheral Nerve Sheath Tumor With Perineurial Differentiation|Malignant Triton Tumor	yes	yes	no	no	NA
SH3PXD2B	HGNC:29242	MGI:2442062	OMIM:249420|ORPHA:137834	Frank-Ter Haar Syndrome	no	no	no	no	NA
SH3RF1	HGNC:17650	MGI:1913066	-	-	yes	no	no	no	NA
SH3RF2	HGNC:26299	MGI:2444628	-	-	yes	no	no	no	NA
SH3RF3	HGNC:24699	MGI:2444637	-	-	yes	no	no	no	NA
SH3TC1	HGNC:26009	MGI:2678949	-	-	yes	no	no	no	NA
SH3TC2	HGNC:29427	MGI:2444417	OMIM:601596|OMIM:613353|ORPHA:99949	Charcot-Marie-Tooth Disease, Type 4C|Mononeuropathy Of The Median Nerve, Mild|Charcot-Marie-Tooth Disease Type 4C	yes	yes	yes	no	NA
SH3YL1	HGNC:29546	MGI:1346118	-	-	no	no	no	no	NA
SHANK1	HGNC:15474	MGI:3613677	-	-	yes	no	no	no	NA
SHANK2	HGNC:14295	MGI:2671987	OMIM:613436|ORPHA:106	Autism, Susceptibility To, 17|Non Rare In Europe: Autism	yes	yes	no	no	NA
SHANK3	HGNC:14294	MGI:1930016	OMIM:606232|OMIM:613950|ORPHA:106|ORPHA:48652	Phelan-Mcdermid Syndrome|Schizophrenia 15|Non Rare In Europe: Autism|Monosomy 22Q13.3	yes	yes	yes	no	NA
SHARPIN	HGNC:25321	MGI:1913331	-	-	no	no	no	no	NA
SHB	HGNC:10838	MGI:98294	-	-	no	no	no	no	NA
SHBG	HGNC:10839	MGI:98295	-	-	no	no	no	no	NA
SHC1	HGNC:10840	MGI:98296	-	-	no	no	no	no	NA
SHC2	HGNC:29869	MGI:106180	-	-	no	no	no	no	NA
SHC3	HGNC:18181	MGI:106179	-	-	no	no	no	no	NA
SHC4	HGNC:16743	MGI:2655364	-	-	yes	no	no	no	NA
SHCBP1	HGNC:29547	MGI:1338802	-	-	no	no	no	no	NA
SHCBP1L	HGNC:16788	MGI:1919086	-	-	no	no	no	no	NA
SHD	HGNC:30633	MGI:1099461	-	-	no	no	no	no	NA
SHE	HGNC:27004	MGI:1099462	-	-	no	no	no	no	NA
SHF	HGNC:25116	MGI:3613669	-	-	yes	no	no	no	NA
SHFL	HGNC:25649	MGI:2441788	-	-	yes	no	no	no	NA
SHH	HGNC:10848	MGI:98297	OMIM:142945|OMIM:611638|OMIM:269160|OMIM:147250|ORPHA:988|ORPHA:280200|ORPHA:280195|ORPHA:220386|ORPHA:485275|ORPHA:476119|ORPHA:93321|ORPHA:93336|ORPHA:93405|ORPHA:93926|ORPHA:93924|ORPHA:93925|ORPHA:98938	Holoprosencephaly 3|Microphthalmia, Isolated, With Coloboma 5|Schizencephaly|Solitary Median Maxillary Central Incisor|Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome|Microform Holoprosencephaly|Septopreoptic Holoprosencephaly|Semilobar Holoprosencephaly|Acquired Schizencephaly|Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome|Radial Hemimelia|Polydactyly Of A Triphalangeal Thumb|Syndactyly Type 4|Midline Interhemispheric Variant Of Holoprosencephaly|Lobar Holoprosencephaly|Alobar Holoprosencephaly|Colobomatous Microphthalmia	yes	yes	yes	yes	29.93
SHISA2	HGNC:20366	MGI:2444716	-	-	no	no	no	no	NA
SHISA3	HGNC:25159	MGI:3041225	-	-	no	no	no	no	NA
SHISA4	HGNC:27139	MGI:1924802	-	-	yes	no	no	no	NA
SHISA5	HGNC:30376	MGI:1915044	-	-	no	no	no	no	NA
SHISA6	HGNC:34491	MGI:2685725	-	-	yes	no	no	no	NA
SHISA7	HGNC:35409	MGI:3605641	-	-	yes	no	no	no	NA
SHISA8	HGNC:18351	MGI:2146080	-	-	yes	no	no	no	NA
SHISA9	HGNC:37231	MGI:1919805	-	-	yes	no	no	no	NA
SHISAL1	HGNC:29335	MGI:1919551	-	-	yes	no	no	no	NA
SHISAL2A	HGNC:28757	MGI:3651644	-	-	yes	no	no	no	NA
SHISAL2B	HGNC:34236	MGI:1925053	-	-	no	no	no	no	NA
SHKBP1	HGNC:19214	MGI:2385803	-	-	no	no	no	no	NA
SHLD1	HGNC:26318	MGI:1920997	-	-	yes	no	no	no	NA
SHLD2	HGNC:28773	MGI:1922948	-	-	no	no	no	no	NA
SHLD3	HGNC:53826	MGI:6194609	-	-	no	no	no	no	NA
SHMT1	HGNC:10850	MGI:98299	-	-	yes	no	no	no	NA
SHMT2	HGNC:10852	MGI:1277989	OMIM:619121	Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	yes	yes	yes	yes	22.645
SHOC1	HGNC:26535	MGI:2140313	OMIM:619949|ORPHA:399805	Spermatogenic Failure 75|Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	no	no	no	no	NA
SHOC2	HGNC:15454	MGI:1927197	OMIM:607721|ORPHA:2701	Noonan Syndrome-Like Disorder With Loose Anagen Hair 1|Noonan Syndrome-Like Disorder With Loose Anagen Hair	no	no	no	no	NA
SHOX2	HGNC:10854	MGI:1201673	-	-	yes	no	no	no	NA
SHPK	HGNC:1492	MGI:1921887	OMIM:617213|ORPHA:440713	Sedoheptulokinase Deficiency|Isolated Sedoheptulokinase Deficiency	yes	no	yes	no	NA
SHPRH	HGNC:19336	MGI:1917581	-	-	yes	no	no	no	NA
SHQ1	HGNC:25543	MGI:1919421	OMIM:619921|OMIM:619922|ORPHA:256	Dystonia 35, Childhood-Onset|Neurodevelopmental Disorder With Dystonia And Seizures|Early-Onset Generalized Limb-Onset Dystonia	no	no	no	no	NA
SHROOM1	HGNC:24084	MGI:1919024	-	-	no	no	no	no	NA
SHROOM2	HGNC:630	MGI:107194	-	-	yes	no	no	no	NA
SHROOM3	HGNC:30422	MGI:1351655	-	-	yes	no	no	no	NA
SHROOM4	HGNC:29215	MGI:2685570	ORPHA:85288	X-Linked Intellectual Disability, Stocco Dos Santos Type	yes	yes	yes	yes	37.91
SHTN1	HGNC:29319	MGI:1918903	-	-	yes	no	no	no	NA
SI	HGNC:10856	MGI:1917233	OMIM:222900|ORPHA:35122	Sucrase-Isomaltase Deficiency, Congenital|Congenital Sucrase-Isomaltase Deficiency	yes	no	yes	no	NA
SIAE	HGNC:18187	MGI:104803	OMIM:613551	Autoimmune Disease, Susceptibility To, 6	no	no	no	no	NA
SIAH2	HGNC:10858	MGI:108062	-	-	no	no	no	no	NA
SIAH3	HGNC:30553	MGI:2685758	-	-	no	no	no	no	NA
SIDT1	HGNC:25967	MGI:2443155	-	-	yes	no	no	no	NA
SIDT2	HGNC:24272	MGI:2446134	-	-	yes	no	no	no	NA
SIGIRR	HGNC:30575	MGI:1344402	-	-	no	no	no	no	NA
SIGLEC1	HGNC:11127	MGI:99668	-	-	yes	no	no	no	NA
SIGLEC15	HGNC:27596	MGI:3646642	-	-	no	no	no	no	NA
SIGLECL1	HGNC:26856	MGI:1921304	-	-	no	no	no	no	NA
SIGMAR1	HGNC:8157	MGI:1195268	OMIM:614373|OMIM:605726|ORPHA:139552|ORPHA:300605	Amyotrophic Lateral Sclerosis 16, Juvenile|Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2|Distal Hereditary Motor Neuropathy, Jerash Type|Juvenile Amyotrophic Lateral Sclerosis	yes	yes	yes	yes	20.55
SIK1	HGNC:11142	MGI:104754	OMIM:616341|ORPHA:1934|ORPHA:1935|ORPHA:3451	Developmental And Epileptic Encephalopathy 30|Early Infantile Epileptic Encephalopathy|Early Myoclonic Encephalopathy|Infantile Spasms Syndrome	yes	yes	yes	yes	23.405
SIK2	HGNC:21680	MGI:2445031	-	-	yes	no	no	no	NA
SIK3	HGNC:29165	MGI:2446296	OMIM:618162	Spondyloepimetaphyseal Dysplasia, Krakow Type	yes	yes	yes	yes	32.83
SIKE1	HGNC:26119	MGI:1913891	-	-	yes	no	no	no	NA
SIL1	HGNC:24624	MGI:1932040	OMIM:248800|ORPHA:559	Marinesco-Sjogren Syndrome|Marinesco-Sjögren Syndrome	no	no	no	no	NA
SIM1	HGNC:10882	MGI:98306	ORPHA:171829|ORPHA:369873|ORPHA:398079	6Q16 Microdeletion Syndrome|Obesity Due To Sim1 Deficiency|Sim1-Related Prader-Willi-Like Syndrome	no	no	no	no	NA
SIM2	HGNC:10883	MGI:98307	-	-	no	no	no	no	NA
SIMC1	HGNC:24779	MGI:2442599	-	-	no	no	no	no	NA
SIN3A	HGNC:19353	MGI:107157	OMIM:613406|ORPHA:500166|ORPHA:94065	Witteveen-Kolk Syndrome|Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation|15Q24 Microdeletion Syndrome	no	no	no	no	NA
SIN3B	HGNC:19354	MGI:107158	ORPHA:500166	Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	no	no	no	no	NA
SINHCAF	HGNC:30702	MGI:1929091	-	-	yes	no	no	no	NA
SIPA1	HGNC:10885	MGI:107576	-	-	yes	no	no	no	NA
SIPA1L1	HGNC:20284	MGI:2443679	-	-	yes	no	no	no	NA
SIPA1L2	HGNC:23800	MGI:2676970	-	-	no	no	no	no	NA
SIPA1L3	HGNC:23801	MGI:1921456	OMIM:616851|ORPHA:98994	Cataract 45|Total Early-Onset Cataract	no	no	no	no	NA
SIRT1	HGNC:14929	MGI:2135607	-	-	yes	no	no	no	NA
SIRT2	HGNC:10886	MGI:1927664	-	-	yes	no	no	no	NA
SIRT3	HGNC:14931	MGI:1927665	-	-	yes	no	no	no	NA
SIRT4	HGNC:14932	MGI:1922637	-	-	yes	no	no	no	NA
SIRT5	HGNC:14933	MGI:1915596	-	-	yes	no	no	no	NA
SIRT6	HGNC:14934	MGI:1354161	ORPHA:580933	Lethal Brain And Heart Developmental Defects	yes	yes	no	no	NA
SIRT7	HGNC:14935	MGI:2385849	-	-	no	no	no	no	NA
SIT1	HGNC:17710	MGI:1889342	-	-	no	no	no	no	NA
SIVA1	HGNC:17712	MGI:1353606	-	-	yes	no	no	no	NA
SIX1	HGNC:10887	MGI:102780	OMIM:608389|OMIM:605192|ORPHA:107|ORPHA:52429|ORPHA:90635	Branchiootic Syndrome 3|Deafness, Autosomal Dominant 23|Bor Syndrome|Branchiootic Syndrome|Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	yes	yes	yes	yes	33.61
SIX2	HGNC:10888	MGI:102778	ORPHA:488437	Six2-Related Frontonasal Dysplasia	no	no	no	no	NA
SIX3	HGNC:10889	MGI:102764	OMIM:157170|OMIM:269160|ORPHA:280200|ORPHA:280195|ORPHA:220386|ORPHA:485275|ORPHA:93926|ORPHA:93924|ORPHA:93925	Holoprosencephaly 2|Schizencephaly|Microform Holoprosencephaly|Septopreoptic Holoprosencephaly|Semilobar Holoprosencephaly|Acquired Schizencephaly|Midline Interhemispheric Variant Of Holoprosencephaly|Lobar Holoprosencephaly|Alobar Holoprosencephaly	no	no	no	no	NA
SIX4	HGNC:10890	MGI:106034	-	-	no	no	no	no	NA
SIX5	HGNC:10891	MGI:106220	OMIM:610896|ORPHA:107	Branchiootorenal Syndrome 2|Bor Syndrome	no	no	no	no	NA
SIX6	HGNC:10892	MGI:1341840	OMIM:212550|ORPHA:435930|ORPHA:35612|ORPHA:98938	Optic Disc Anomalies With Retinal And/Or Macular Dystrophy|Colobomatous Optic Disc-Macular Atrophy-Chorioretinopathy Syndrome|Nanophthalmos|Colobomatous Microphthalmia	no	no	no	no	NA
SKA1	HGNC:28109	MGI:1913718	-	-	no	no	no	no	NA
SKA2	HGNC:28006	MGI:1913390	-	-	yes	no	no	no	NA
SKA3	HGNC:20262	MGI:3041235	-	-	no	no	no	no	NA
SKAP1	HGNC:15605	MGI:1925723	-	-	no	no	no	no	NA
SKAP2	HGNC:15687	MGI:1889206	-	-	no	no	no	no	NA
SKI	HGNC:10896	MGI:98310	OMIM:182212|ORPHA:1606|ORPHA:2462	Shprintzen-Goldberg Craniosynostosis Syndrome|1P36 Deletion Syndrome|Shprintzen-Goldberg Syndrome	yes	yes	yes	no	NA
SKIC2	HGNC:10898	MGI:1099835	OMIM:614602|ORPHA:84064	Trichohepatoenteric Syndrome 2|Syndromic Diarrhea	yes	yes	yes	yes	29.83
SKIC3	HGNC:23639	MGI:2679923	OMIM:222470|ORPHA:84064	Trichohepatoenteric Syndrome 1|Syndromic Diarrhea	yes	yes	yes	yes	31.045
SKIC8	HGNC:30300	MGI:1917493	-	-	no	no	no	no	NA
SKIDA1	HGNC:32697	MGI:1919918	-	-	yes	no	no	no	NA
SKIL	HGNC:10897	MGI:106203	-	-	yes	no	no	no	NA
SKOR1	HGNC:21326	MGI:2443473	-	-	yes	no	no	no	NA
SKOR2	HGNC:32695	MGI:3645984	-	-	no	no	no	no	NA
SKP1	HGNC:10899	MGI:103575	-	-	no	no	no	no	NA
SKP2	HGNC:10901	MGI:1351663	-	-	yes	no	no	no	NA
SLA	HGNC:10902	MGI:104295	-	-	no	no	no	no	NA
SLA2	HGNC:17329	MGI:1925049	-	-	yes	no	no	no	NA
SLAIN1	HGNC:26387	MGI:2145578	-	-	no	no	no	no	NA
SLAIN2	HGNC:29282	MGI:1923241	-	-	yes	no	no	no	NA
SLAMF1	HGNC:10903	MGI:1351314	-	-	no	no	no	no	NA
SLAMF6	HGNC:21392	MGI:1353620	-	-	no	no	no	no	NA
SLAMF7	HGNC:21394	MGI:1922595	-	-	no	no	no	no	NA
SLAMF8	HGNC:21391	MGI:1921998	-	-	no	no	no	no	NA
SLAMF9	HGNC:18430	MGI:1923692	-	-	yes	no	no	no	NA
SLBP	HGNC:10904	MGI:108402	-	-	yes	no	no	no	NA
SLC10A1	HGNC:10905	MGI:97379	OMIM:619256|ORPHA:238475	Hypercholanemia, Familial, 2|Familial Hypercholanemia	yes	yes	yes	yes	32.065
SLC10A2	HGNC:10906	MGI:1201406	OMIM:613291|ORPHA:449262	Bile Acid Malabsorption, Primary, 1|Non Rare In Europe: Primary Bile Acid Malabsorption	yes	yes	yes	no	NA
SLC10A3	HGNC:22979	MGI:95048	-	-	yes	no	no	no	NA
SLC10A4	HGNC:22980	MGI:3606480	-	-	yes	no	no	no	NA
SLC10A5	HGNC:22981	MGI:2685251	-	-	no	no	no	no	NA
SLC10A6	HGNC:30603	MGI:1923000	-	-	no	no	no	no	NA
SLC10A7	HGNC:23088	MGI:1924025	OMIM:618363	Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	no	no	no	no	NA
SLC11A1	HGNC:10907	MGI:1345275	OMIM:610446|OMIM:607948|ORPHA:586|ORPHA:3389	Buruli Ulcer, Susceptibility To|Mycobacterium Tuberculosis, Susceptibility To|Cystic Fibrosis|Tuberculosis	yes	yes	yes	yes	15.775
SLC11A2	HGNC:10908	MGI:1345279	OMIM:206100|ORPHA:83642	Anemia, Hypochromic Microcytic, With Iron Overload 1|Microcytic Anemia With Liver Iron Overload	no	no	no	no	NA
SLC12A1	HGNC:10910	MGI:103150	OMIM:601678	Bartter Syndrome, Type 1, Antenatal	yes	yes	yes	yes	60.735
SLC12A2	HGNC:10911	MGI:101924	OMIM:619081|OMIM:619083|OMIM:619080|ORPHA:633021|ORPHA:633024	Deafness, Autosomal Dominant 78|Delpire-Mcneill Syndrome|Kilquist Syndrome|Slc12A2-Related Autosomal Recessive Neonatal-Developmental Delay-Intellectual Disability-Feeding Difficulty-Sensorineural Deafness Syndrome|Slc12A2-Related Autosomal Dominant Infantile-Developmental Delay-Intellectual Disability-Sensorineural Deafness Syndrome	no	no	no	no	NA
SLC12A3	HGNC:10912	MGI:108114	OMIM:263800|ORPHA:358	Gitelman Syndrome	no	no	no	no	NA
SLC12A4	HGNC:10913	MGI:1309465	-	-	no	no	no	no	NA
SLC12A5	HGNC:13818	MGI:1862037	OMIM:616645|OMIM:616685|ORPHA:293181	Developmental And Epileptic Encephalopathy 34|Epilepsy, Idiopathic Generalized, Susceptibility To, 14|Malignant Migrating Focal Seizures Of Infancy	yes	yes	yes	no	NA
SLC12A6	HGNC:10914	MGI:2135960	OMIM:218000|OMIM:620068|ORPHA:1496	Agenesis Of The Corpus Callosum With Peripheral Neuropathy|Charcot-Marie-Tooth Disease, Axonal, Type 2Ii|Corpus Callosum Agenesis-Neuronopathy Syndrome	no	no	no	no	NA
SLC12A7	HGNC:10915	MGI:1342283	-	-	yes	no	no	no	NA
SLC12A8	HGNC:15595	MGI:2443672	-	-	no	no	no	no	NA
SLC12A9	HGNC:17435	MGI:1933532	-	-	no	no	no	no	NA
SLC13A1	HGNC:10916	MGI:1859937	-	-	no	no	no	no	NA
SLC13A2	HGNC:10917	MGI:1276558	-	-	no	no	no	no	NA
SLC13A3	HGNC:14430	MGI:2149635	OMIM:618384	Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate	yes	yes	yes	yes	26.3
SLC13A4	HGNC:15827	MGI:2442367	-	-	yes	no	no	no	NA
SLC13A5	HGNC:23089	MGI:3037150	OMIM:615905|ORPHA:1946|ORPHA:442835	Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta|Amelocerebrohypohidrotic Syndrome|Non-Specific Early-Onset Epileptic Encephalopathy	yes	yes	yes	no	NA
SLC14A1	HGNC:10918	MGI:1351654	OMIM:111000	Blood Group, Kidd System	no	no	no	no	NA
SLC14A2	HGNC:10919	MGI:1351653	-	-	no	no	no	no	NA
SLC15A1	HGNC:10920	MGI:1861376	-	-	no	no	no	no	NA
SLC15A2	HGNC:10921	MGI:1890457	-	-	no	no	no	no	NA
SLC15A3	HGNC:18068	MGI:1929691	-	-	yes	no	no	no	NA
SLC15A4	HGNC:23090	MGI:2140796	-	-	no	no	no	no	NA
SLC15A5	HGNC:33455	MGI:3607714	-	-	yes	no	no	no	NA
SLC16A1	HGNC:10922	MGI:106013	OMIM:245340|OMIM:610021|OMIM:616095|ORPHA:165991|ORPHA:171690|ORPHA:438075	Erythrocyte Lactate Transporter Defect|Hyperinsulinemic Hypoglycemia, Familial, 7|Monocarboxylate Transporter 1 Deficiency|Exercise-Induced Hyperinsulinism|Metabolic Myopathy Due To Lactate Transporter Defect|Ketoacidosis Due To Monocarboxylate Transporter-1 Deficiency	no	no	no	no	NA
SLC16A10	HGNC:17027	MGI:1919722	-	-	no	no	no	no	NA
SLC16A11	HGNC:23093	MGI:2663709	-	-	no	no	no	no	NA
SLC16A12	HGNC:23094	MGI:2147716	OMIM:612018|ORPHA:247794	Cataract 47|Juvenile Cataract-Microcornea-Renal Glucosuria Syndrome	no	no	no	no	NA
SLC16A13	HGNC:31037	MGI:1916559	-	-	no	no	no	no	NA
SLC16A14	HGNC:26417	MGI:1919031	-	-	no	no	no	no	NA
SLC16A2	HGNC:10923	MGI:1203732	OMIM:300523|ORPHA:59	Allan-Herndon-Dudley Syndrome	yes	yes	yes	no	NA
SLC16A3	HGNC:10924	MGI:1933438	-	-	yes	no	no	no	NA
SLC16A4	HGNC:10925	MGI:2385183	-	-	yes	no	no	no	NA
SLC16A5	HGNC:10926	MGI:2443515	-	-	no	no	no	no	NA
SLC16A6	HGNC:10927	MGI:2144585	-	-	yes	no	no	no	NA
SLC16A7	HGNC:10928	MGI:1330284	-	-	no	no	no	no	NA
SLC16A8	HGNC:16270	MGI:1929519	-	-	no	no	no	no	NA
SLC16A9	HGNC:23520	MGI:1914109	-	-	yes	no	no	no	NA
SLC17A1	HGNC:10929	MGI:103209	-	-	yes	no	no	no	NA
SLC17A2	HGNC:10930	MGI:2443098	-	-	yes	no	no	no	NA
SLC17A3	HGNC:10931	MGI:2389216	OMIM:612671	Uric Acid Concentration, Serum, Quantitative Trait Locus 4	yes	no	no	no	NA
SLC17A4	HGNC:10932	MGI:2442850	-	-	no	no	no	no	NA
SLC17A5	HGNC:10933	MGI:1924105	OMIM:604369|OMIM:269920|ORPHA:309324|ORPHA:309331|ORPHA:309334	Salla Disease|Infantile Sialic Acid Storage Disease|Free Sialic Acid Storage Disease, Infantile Form|Intermediate Severe Salla Disease	no	no	no	no	NA
SLC17A6	HGNC:16703	MGI:2156052	-	-	yes	no	no	no	NA
SLC17A7	HGNC:16704	MGI:1920211	-	-	yes	no	no	no	NA
SLC17A8	HGNC:20151	MGI:3039629	OMIM:605583|ORPHA:90635	Deafness, Autosomal Dominant 25|Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	yes	yes	yes	yes	26.89
SLC17A9	HGNC:16192	MGI:1919107	OMIM:616063|ORPHA:79152	Porokeratosis 8, Disseminated Superficial Actinic Type|Disseminated Superficial Actinic Porokeratosis	yes	yes	yes	no	NA
SLC18A1	HGNC:10934	MGI:106684	-	-	no	no	no	no	NA
SLC18A2	HGNC:10935	MGI:106677	OMIM:618049|ORPHA:352649	Parkinsonism-Dystonia 2, Infantile-Onset|Brain Dopamine-Serotonin Vesicular Transport Disease	no	no	no	no	NA
SLC18A3	HGNC:10936	MGI:1101061	OMIM:617239|ORPHA:994|ORPHA:98914	Myasthenic Syndrome, Congenital, 21, Presynaptic|Fetal Akinesia Deformation Sequence|Presynaptic Congenital Myasthenic Syndromes	no	no	no	no	NA
SLC18B1	HGNC:21573	MGI:1923556	-	-	yes	no	no	no	NA
SLC19A1	HGNC:10937	MGI:103182	OMIM:601775	Megaloblastic Anemia, Folate-Responsive	no	no	no	no	NA
SLC19A2	HGNC:10938	MGI:1928761	OMIM:249270|ORPHA:49827	Thiamine-Responsive Megaloblastic Anemia Syndrome	no	no	no	no	NA
SLC19A3	HGNC:16266	MGI:1931307	OMIM:607483|ORPHA:199348|ORPHA:263410|ORPHA:65284	Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)|Thiamine-Responsive Encephalopathy|Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome|Biotin-Thiamine-Responsive Basal Ganglia Disease	no	no	no	no	NA
SLC1A1	HGNC:10939	MGI:105083	OMIM:222730|OMIM:615232|ORPHA:166412|ORPHA:2195	Dicarboxylic Aminoaciduria|Schizophrenia 18|Hot Water Reflex Epilepsy	yes	yes	yes	no	NA
SLC1A2	HGNC:10940	MGI:101931	OMIM:617105|ORPHA:442835	Developmental And Epileptic Encephalopathy 41|Non-Specific Early-Onset Epileptic Encephalopathy	no	no	no	no	NA
SLC1A3	HGNC:10941	MGI:99917	OMIM:612656|ORPHA:2131|ORPHA:209967	Episodic Ataxia, Type 6|Alternating Hemiplegia Of Childhood|Episodic Ataxia Type 6	yes	yes	yes	yes	31.48
SLC1A4	HGNC:10942	MGI:2135601	OMIM:616657|ORPHA:447997	Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly|Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	yes	yes	yes	no	NA
SLC1A5	HGNC:10943	MGI:105305	-	-	no	no	no	no	NA
SLC1A6	HGNC:10944	MGI:1096331	-	-	no	no	no	no	NA
SLC1A7	HGNC:10945	MGI:2444087	-	-	yes	no	no	no	NA
SLC20A1	HGNC:10946	MGI:108392	-	-	no	no	no	no	NA
SLC20A2	HGNC:10947	MGI:97851	OMIM:213600|ORPHA:1980	Basal Ganglia Calcification, Idiopathic, 1|Bilateral Striopallidodentate Calcinosis	yes	yes	yes	yes	40.73
SLC22A1	HGNC:10963	MGI:108111	-	-	no	no	no	no	NA
SLC22A12	HGNC:17989	MGI:1195269	OMIM:220150|ORPHA:94088	Hypouricemia, Renal, 1|Hereditary Renal Hypouricemia	no	no	no	no	NA
SLC22A13	HGNC:8494	MGI:2143107	-	-	no	no	no	no	NA
SLC22A14	HGNC:8495	MGI:2685974	-	-	no	no	no	no	NA
SLC22A15	HGNC:20301	MGI:3607704	-	-	yes	no	no	no	NA
SLC22A16	HGNC:20302	MGI:1918090	-	-	no	no	no	no	NA
SLC22A17	HGNC:23095	MGI:1926225	-	-	yes	no	no	no	NA
SLC22A18	HGNC:10964	MGI:1336884	OMIM:211980|OMIM:114480|OMIM:268210|ORPHA:227535|ORPHA:99757	Lung Cancer|Breast Cancer|Rhabdomyosarcoma, Embryonal, 1|Hereditary Breast Cancer|Embryonal Rhabdomyosarcoma	no	no	no	no	NA
SLC22A2	HGNC:10966	MGI:1335072	-	-	no	no	no	no	NA
SLC22A23	HGNC:21106	MGI:1920352	-	-	no	no	no	no	NA
SLC22A3	HGNC:10967	MGI:1333817	-	-	yes	no	no	no	NA
SLC22A4	HGNC:10968	MGI:1353479	OMIM:180300	Rheumatoid Arthritis	yes	yes	yes	no	NA
SLC22A6	HGNC:10970	MGI:892001	-	-	no	no	no	no	NA
SLC22A7	HGNC:10971	MGI:1859559	-	-	yes	no	no	no	NA
SLC22A8	HGNC:10972	MGI:1336187	-	-	yes	no	no	no	NA
SLC23A1	HGNC:10974	MGI:1341903	-	-	no	no	no	no	NA
SLC23A2	HGNC:10973	MGI:1859682	-	-	no	no	no	no	NA
SLC23A3	HGNC:20601	MGI:104516	-	-	yes	no	no	no	NA
SLC24A1	HGNC:10975	MGI:2384871	OMIM:613830|ORPHA:215	Night Blindness, Congenital Stationary, Type 1D|Congenital Stationary Night Blindness	no	no	no	no	NA
SLC24A2	HGNC:10976	MGI:1923626	-	-	no	no	no	no	NA
SLC24A3	HGNC:10977	MGI:2137513	-	-	yes	no	no	no	NA
SLC24A4	HGNC:10978	MGI:2447362	OMIM:615887|OMIM:210750|ORPHA:100032|ORPHA:100033	Amelogenesis Imperfecta, Hypomaturation Type, Iia5|Skin/Hair/Eye Pigmentation, Variation In, 6|Hypocalcified Amelogenesis Imperfecta|Hypomaturation Amelogenesis Imperfecta	yes	yes	yes	no	NA
SLC24A5	HGNC:20611	MGI:2677271	OMIM:113750|ORPHA:370097	Albinism, Oculocutaneous, Type Vi|Oculocutaneous Albinism Type 6	yes	yes	yes	yes	54.105
SLC25A1	HGNC:10979	MGI:1345283	OMIM:615182|OMIM:618197|ORPHA:356978|ORPHA:98914	Combined D-2- And L-2-Hydroxyglutaric Aciduria|Myasthenic Syndrome, Congenital, 23, Presynaptic|D,L-2-Hydroxyglutaric Aciduria|Presynaptic Congenital Myasthenic Syndromes	yes	yes	yes	yes	31.615
SLC25A10	HGNC:10980	MGI:1353497	OMIM:618972	Mitochondrial Dna Depletion Syndrome 19	yes	yes	yes	no	NA
SLC25A11	HGNC:10981	MGI:1915113	OMIM:618464|ORPHA:29072	Pheochromocytoma/Paraganglioma Syndrome 6|Hereditary Pheochromocytoma-Paraganglioma	no	no	no	no	NA
SLC25A12	HGNC:10982	MGI:1926080	OMIM:612949|ORPHA:353217	Developmental And Epileptic Encephalopathy 39 With Leukodystrophy|Epileptic Encephalopathy With Global Cerebral Demyelination	yes	yes	yes	no	NA
SLC25A13	HGNC:10983	MGI:1354721	OMIM:603471|OMIM:605814|ORPHA:247585|ORPHA:247598	Citrullinemia, Type Ii, Adult-Onset|Citrullinemia, Type Ii, Neonatal-Onset|Citrullinemia Type Ii|Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	yes	no	yes	no	NA
SLC25A14	HGNC:10984	MGI:1330823	-	-	yes	no	no	no	NA
SLC25A15	HGNC:10985	MGI:1342274	OMIM:238970|ORPHA:415	Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	yes	yes	yes	yes	30.22
SLC25A16	HGNC:10986	MGI:1920382	-	-	no	no	no	no	NA
SLC25A17	HGNC:10987	MGI:1342248	-	-	no	no	no	no	NA
SLC25A18	HGNC:10988	MGI:1919053	-	-	yes	no	no	no	NA
SLC25A19	HGNC:14409	MGI:1914533	OMIM:607196|OMIM:613710|ORPHA:217396|ORPHA:99742	Microcephaly, Amish Type|Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)|Progressive Polyneuropathy With Bilateral Striatal Necrosis|Amish Lethal Microcephaly	no	no	no	no	NA
SLC25A2	HGNC:22921	MGI:2137907	-	-	no	no	no	no	NA
SLC25A20	HGNC:1421	MGI:1928738	OMIM:212138|ORPHA:159	Carnitine-Acylcarnitine Translocase Deficiency	yes	yes	yes	no	NA
SLC25A21	HGNC:14411	MGI:2445059	OMIM:618811	Mitochondrial Dna Depletion Syndrome 18	yes	yes	yes	yes	37.255
SLC25A22	HGNC:19954	MGI:1915517	OMIM:609304|ORPHA:1934|ORPHA:1935|ORPHA:293181	Developmental And Epileptic Encephalopathy 3|Early Infantile Epileptic Encephalopathy|Early Myoclonic Encephalopathy|Malignant Migrating Focal Seizures Of Infancy	no	no	no	no	NA
SLC25A23	HGNC:19375	MGI:1914222	-	-	no	no	no	no	NA
SLC25A24	HGNC:20662	MGI:1917160	OMIM:612289|ORPHA:2095|ORPHA:2963	Fontaine Progeroid Syndrome|Gorlin-Chaudhry-Moss Syndrome|Progeroid Syndrome, Petty Type	yes	yes	yes	no	NA
SLC25A25	HGNC:20663	MGI:1915913	-	-	yes	no	no	no	NA
SLC25A26	HGNC:20661	MGI:1914832	OMIM:616794|ORPHA:466784	Combined Oxidative Phosphorylation Deficiency 28|Neonatal Severe Cardiopulmonary Failure Due To Mitochondrial Methylation Defect	no	no	no	no	NA
SLC25A27	HGNC:21065	MGI:1921261	-	-	no	no	no	no	NA
SLC25A28	HGNC:23472	MGI:2180509	-	-	yes	no	no	no	NA
SLC25A29	HGNC:20116	MGI:2444911	-	-	yes	no	no	no	NA
SLC25A3	HGNC:10989	MGI:1353498	OMIM:610773|ORPHA:91130	Mitochondrial Phosphate Carrier Deficiency|Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	yes	yes	yes	yes	28.97
SLC25A30	HGNC:27371	MGI:1914804	-	-	yes	no	no	no	NA
SLC25A31	HGNC:25319	MGI:1920583	-	-	no	no	no	no	NA
SLC25A32	HGNC:29683	MGI:1917156	OMIM:616839|ORPHA:394532	Exercise Intolerance, Riboflavin-Responsive|Multiple Acyl-Coa Dehydrogenase Deficiency, Mild Type	no	no	no	no	NA
SLC25A33	HGNC:29681	MGI:1917806	-	-	no	no	no	no	NA
SLC25A34	HGNC:27653	MGI:2686215	-	-	no	no	no	no	NA
SLC25A35	HGNC:31921	MGI:1919248	-	-	yes	no	no	no	NA
SLC25A36	HGNC:25554	MGI:1924909	OMIM:620211	Hyperinsulinemic Hypoglycemia, Familial, 8	no	no	no	no	NA
SLC25A37	HGNC:29786	MGI:1914962	-	-	no	no	no	no	NA
SLC25A38	HGNC:26054	MGI:2384782	OMIM:205950|ORPHA:260305	Anemia, Sideroblastic, 2, Pyridoxine-Refractory|Autosomal Recessive Sideroblastic Anemia	yes	yes	yes	no	NA
SLC25A39	HGNC:24279	MGI:1196386	-	-	yes	no	no	no	NA
SLC25A4	HGNC:10990	MGI:1353495	OMIM:617184|OMIM:615418|OMIM:609283|ORPHA:1369|ORPHA:254892	Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant|Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive|Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2|Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome|Autosomal Dominant Progressive External Ophthalmoplegia	yes	yes	yes	yes	44.595
SLC25A40	HGNC:29680	MGI:2442486	-	-	yes	no	no	no	NA
SLC25A41	HGNC:28533	MGI:2144215	-	-	no	no	no	no	NA
SLC25A42	HGNC:28380	MGI:1920345	OMIM:618416	Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	yes	yes	yes	no	NA
SLC25A43	HGNC:30557	MGI:2684854	-	-	yes	no	no	no	NA
SLC25A44	HGNC:29036	MGI:2444391	-	-	yes	no	no	no	NA
SLC25A45	HGNC:27442	MGI:2147731	-	-	no	no	no	no	NA
SLC25A46	HGNC:25198	MGI:1914703	OMIM:616505|OMIM:619303|ORPHA:2254|ORPHA:90120	Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy|Pontocerebellar Hypoplasia, Type 1E|Pontocerebellar Hypoplasia Type 1|Hereditary Motor And Sensory Neuropathy Type 6	yes	yes	yes	no	NA
SLC25A47	HGNC:20115	MGI:2144766	-	-	yes	no	no	no	NA
SLC25A48	HGNC:30451	MGI:2145373	-	-	yes	no	no	no	NA
SLC25A5	HGNC:10991	MGI:1353496	-	-	yes	no	no	no	NA
SLC25A53	HGNC:31894	MGI:1914312	-	-	no	no	no	no	NA
SLC26A1	HGNC:10993	MGI:2385894	OMIM:620372|OMIM:167030	Hypersulfaturia|Nephrolithiasis, Calcium Oxalate, 1	no	no	no	no	NA
SLC26A11	HGNC:14471	MGI:2444589	-	-	no	no	no	no	NA
SLC26A2	HGNC:10994	MGI:892977	OMIM:600972|OMIM:256050|OMIM:222600|OMIM:226900|ORPHA:628|ORPHA:56304|ORPHA:93298|ORPHA:93307	Achondrogenesis, Type Ib|Atelosteogenesis, Type Ii|Diastrophic Dysplasia|Epiphyseal Dysplasia, Multiple, 4|Atelosteogenesis Type Ii|Achondrogenesis Type 1B|Multiple Epiphyseal Dysplasia Type 4	yes	yes	yes	yes	31.685
SLC26A3	HGNC:3018	MGI:107181	OMIM:214700|ORPHA:53689	Diarrhea 1, Secretory Chloride, Congenital|Congenital Chloride Diarrhea	no	no	no	no	NA
SLC26A4	HGNC:8818	MGI:1346029	OMIM:600791|OMIM:274600|ORPHA:705|ORPHA:90636|ORPHA:95713|ORPHA:95720	Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct|Pendred Syndrome|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb|Athyreosis|Thyroid Hypoplasia	no	no	no	no	NA
SLC26A5	HGNC:9359	MGI:1933154	OMIM:613865|ORPHA:90636	Deafness, Autosomal Recessive 61|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	no	no	no	no	NA
SLC26A6	HGNC:14472	MGI:2159728	-	-	no	no	no	no	NA
SLC26A7	HGNC:14467	MGI:2384791	-	-	no	no	no	no	NA
SLC26A8	HGNC:14468	MGI:2385046	OMIM:606766|ORPHA:276234	Spermatogenic Failure 3|Non-Syndromic Male Infertility Due To Sperm Motility Disorder	no	no	no	no	NA
SLC26A9	HGNC:14469	MGI:2444594	ORPHA:586	Cystic Fibrosis	yes	yes	yes	yes	25.87
SLC27A1	HGNC:10995	MGI:1347098	-	-	no	no	no	no	NA
SLC27A2	HGNC:10996	MGI:1347099	-	-	no	no	no	no	NA
SLC27A3	HGNC:10997	MGI:1347358	-	-	yes	no	no	no	NA
SLC27A4	HGNC:10998	MGI:1347347	OMIM:608649|ORPHA:88621	Ichthyosis Prematurity Syndrome|Ichthyosis-Prematurity Syndrome	no	no	no	no	NA
SLC27A5	HGNC:10999	MGI:1347100	ORPHA:276066	Bile Acid Coa Ligase Deficiency And Defective Amidation	no	no	no	no	NA
SLC27A6	HGNC:11000	MGI:3036230	-	-	yes	no	no	no	NA
SLC28A1	HGNC:11001	MGI:3605073	OMIM:618477	Uridine-Cytidineuria	no	no	no	no	NA
SLC28A3	HGNC:16484	MGI:2137361	-	-	yes	no	no	no	NA
SLC29A1	HGNC:11003	MGI:1927073	-	-	yes	no	no	no	NA
SLC29A2	HGNC:11004	MGI:1345278	-	-	no	no	no	no	NA
SLC29A3	HGNC:23096	MGI:1918529	OMIM:602782|ORPHA:168569|ORPHA:1782	Histiocytosis-Lymphadenopathy Plus Syndrome|H Syndrome|Dysosteosclerosis	yes	yes	yes	yes	52.625
SLC29A4	HGNC:23097	MGI:2385330	-	-	yes	no	no	no	NA
SLC2A1	HGNC:11005	MGI:95755	OMIM:601042|OMIM:606777|OMIM:612126|OMIM:608885|OMIM:614847|ORPHA:168577|ORPHA:1942|ORPHA:71277|ORPHA:64280|ORPHA:53583|ORPHA:86911|ORPHA:98811	Dystonia 9|Glut1 Deficiency Syndrome 1|Glut1 Deficiency Syndrome 2|Stomatin-Deficient Cryohydrocytosis With Neurologic Defects|Epilepsy, Idiopathic Generalized, Susceptibility To, 12|Hereditary Cryohydrocytosis With Reduced Stomatin|Myoclonic-Astatic Epilepsy|Classic Glucose Transporter Type 1 Deficiency Syndrome|Childhood Absence Epilepsy|Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity|Epilepsy With Myoclonic Absences|Paroxysmal Exertion-Induced Dyskinesia	no	no	no	no	NA
SLC2A10	HGNC:13444	MGI:2156687	OMIM:208050|ORPHA:3342	Arterial Tortuosity Syndrome	yes	no	yes	no	NA
SLC2A12	HGNC:18067	MGI:3052471	-	-	yes	no	no	no	NA
SLC2A13	HGNC:15956	MGI:2146030	-	-	yes	no	no	no	NA
SLC2A2	HGNC:11006	MGI:1095438	OMIM:125853|OMIM:227810|ORPHA:2088	Type 2 Diabetes Mellitus|Fanconi-Bickel Syndrome	yes	yes	yes	yes	51.135
SLC2A4	HGNC:11009	MGI:95758	-	-	no	no	no	no	NA
SLC2A5	HGNC:11010	MGI:1928369	-	-	yes	no	no	no	NA
SLC2A6	HGNC:11011	MGI:2443286	-	-	no	no	no	no	NA
SLC2A7	HGNC:13445	MGI:3650865	-	-	yes	no	no	no	NA
SLC2A8	HGNC:13812	MGI:1860103	-	-	yes	no	no	no	NA
SLC2A9	HGNC:13446	MGI:2152844	OMIM:612076|ORPHA:94088	Hypouricemia, Renal, 2|Hereditary Renal Hypouricemia	no	no	no	no	NA
SLC30A1	HGNC:11012	MGI:1345281	-	-	no	no	no	no	NA
SLC30A10	HGNC:25355	MGI:2685058	OMIM:613280|ORPHA:309854	Hypermanganesemia With Dystonia 1|Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	no	no	no	no	NA
SLC30A2	HGNC:11013	MGI:106637	OMIM:608118	Zinc Deficiency, Transient Neonatal	yes	yes	yes	no	NA
SLC30A3	HGNC:11014	MGI:1345280	-	-	no	no	no	no	NA
SLC30A4	HGNC:11015	MGI:1345282	-	-	yes	no	no	no	NA
SLC30A5	HGNC:19089	MGI:1916298	-	-	no	no	no	no	NA
SLC30A6	HGNC:19305	MGI:2386741	-	-	yes	no	no	no	NA
SLC30A7	HGNC:19306	MGI:1913750	OMIM:620501	Ziegler-Huang Syndrome	yes	yes	yes	no	NA
SLC30A8	HGNC:20303	MGI:2442682	OMIM:125853	Type 2 Diabetes Mellitus	yes	yes	yes	no	NA
SLC30A9	HGNC:1329	MGI:1923690	OMIM:617595|ORPHA:505242	Birk-Landau-Perez Syndrome|Psychomotor Regression-Oculomotor Apraxia-Movement Disorder-Nephropathy Syndrome	yes	yes	yes	yes	32.54
SLC31A1	HGNC:11016	MGI:1333843	OMIM:620306	Neurodegeneration And Seizures Due To Copper Transport Defect	no	no	no	no	NA
SLC31A2	HGNC:11017	MGI:1333844	-	-	no	no	no	no	NA
SLC32A1	HGNC:11018	MGI:1194488	ORPHA:1934	Early Infantile Epileptic Encephalopathy	no	no	no	no	NA
SLC33A1	HGNC:95	MGI:1332247	OMIM:614482|OMIM:612539|ORPHA:171863|ORPHA:300313	Huppke-Brendel Syndrome|Spastic Paraplegia 42, Autosomal Dominant|Autosomal Dominant Spastic Paraplegia Type 42|Congenital Cataract-Hearing Loss-Severe Developmental Delay Syndrome	no	no	no	no	NA
SLC34A1	HGNC:11019	MGI:1345284	OMIM:613388|OMIM:616963|OMIM:612286|ORPHA:157215|ORPHA:244305|ORPHA:3337|ORPHA:300547	Fanconi Renotubular Syndrome 2|Hypercalcemia, Infantile, 2|Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1|Hereditary Hypophosphatemic Rickets With Hypercalciuria|Dominant Hypophosphatemia With Nephrolithiasis Or Osteoporosis|Primary Fanconi Renotubular Syndrome|Autosomal Recessive Infantile Hypercalcemia	no	no	no	no	NA
SLC34A2	HGNC:11020	MGI:1342284	OMIM:265100|ORPHA:60025	Pulmonary Alveolar Microlithiasis	no	no	no	no	NA
SLC34A3	HGNC:20305	MGI:2159410	OMIM:241530|ORPHA:157215	Hypophosphatemic Rickets With Hypercalciuria, Hereditary|Hereditary Hypophosphatemic Rickets With Hypercalciuria	no	no	no	no	NA
SLC35A1	HGNC:11021	MGI:1345622	OMIM:603585|ORPHA:238459	Congenital Disorder Of Glycosylation, Type Iif|Slc35A1-Cdg	no	no	no	no	NA
SLC35A2	HGNC:11022	MGI:1345297	OMIM:300896|ORPHA:268973|ORPHA:356961	Congenital Disorder Of Glycosylation, Type Iim|Isolated Focal Cortical Dysplasia Type Ia|Slc35A2-Cdg	no	no	no	no	NA
SLC35A3	HGNC:11023	MGI:1917648	OMIM:615553|ORPHA:370943	Arthrogryposis, Impaired Intellectual Development, And Seizures|Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome	yes	yes	yes	no	NA
SLC35A4	HGNC:20753	MGI:1915093	-	-	no	no	no	no	NA
SLC35A5	HGNC:20792	MGI:1921352	-	-	no	no	no	no	NA
SLC35B1	HGNC:20798	MGI:1343133	-	-	no	no	no	no	NA
SLC35B2	HGNC:16872	MGI:1921086	OMIM:620269	Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	no	no	no	no	NA
SLC35B3	HGNC:21601	MGI:1913978	-	-	no	no	no	no	NA
SLC35B4	HGNC:20584	MGI:1931249	-	-	yes	no	no	no	NA
SLC35C1	HGNC:20197	MGI:2443301	OMIM:266265|ORPHA:99843	Congenital Disorder Of Glycosylation, Type Iic|Leukocyte Adhesion Deficiency Type Ii	no	no	no	no	NA
SLC35C2	HGNC:17117	MGI:2385166	-	-	yes	no	no	no	NA
SLC35D1	HGNC:20800	MGI:2140361	OMIM:269250|ORPHA:3144	Schneckenbecken Dysplasia	yes	yes	yes	yes	47.82
SLC35D2	HGNC:20799	MGI:1917734	-	-	no	no	no	no	NA
SLC35D3	HGNC:15621	MGI:1923407	-	-	no	no	no	no	NA
SLC35E1	HGNC:20803	MGI:2142403	-	-	no	no	no	no	NA
SLC35E2B	HGNC:33941	MGI:2444240	-	-	yes	no	no	no	NA
SLC35E3	HGNC:20864	MGI:2448489	-	-	no	no	no	no	NA
SLC35E4	HGNC:17058	MGI:2144150	-	-	no	no	no	no	NA
SLC35F1	HGNC:21483	MGI:2139810	-	-	yes	no	no	no	NA
SLC35F2	HGNC:23615	MGI:1919272	-	-	no	no	no	no	NA
SLC35F3	HGNC:23616	MGI:2444426	-	-	no	no	no	no	NA
SLC35F4	HGNC:19845	MGI:1922538	-	-	no	no	no	no	NA
SLC35F5	HGNC:23617	MGI:1921400	-	-	yes	no	no	no	NA
SLC35F6	HGNC:26055	MGI:1922169	-	-	yes	no	no	no	NA
SLC35G1	HGNC:26607	MGI:2444789	-	-	yes	no	no	no	NA
SLC35G2	HGNC:28480	MGI:2685365	-	-	no	no	no	no	NA
SLC36A1	HGNC:18761	MGI:2445299	-	-	yes	no	no	no	NA
SLC36A2	HGNC:18762	MGI:1891430	OMIM:138500|OMIM:242600|ORPHA:42062	Hyperglycinuria|Iminoglycinuria	yes	yes	yes	no	NA
SLC36A3	HGNC:19659	MGI:2665001	-	-	no	no	no	no	NA
SLC36A4	HGNC:19660	MGI:2442595	-	-	yes	no	no	no	NA
SLC37A1	HGNC:11024	MGI:2446181	-	-	yes	no	no	no	NA
SLC37A2	HGNC:20644	MGI:1929693	-	-	yes	no	no	no	NA
SLC37A3	HGNC:20651	MGI:1919394	-	-	yes	no	no	no	NA
SLC37A4	HGNC:4061	MGI:1316650	OMIM:619525|OMIM:232220|OMIM:232240|ORPHA:79259	Congenital Disorder Of Glycosylation, Type Iiw|Glycogen Storage Disease Ib|Glycogen Storage Disease Ic|Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	no	no	no	no	NA
SLC38A1	HGNC:13447	MGI:2145895	-	-	yes	no	no	no	NA
SLC38A10	HGNC:28237	MGI:1919305	-	-	yes	no	no	no	NA
SLC38A11	HGNC:26836	MGI:2443383	-	-	yes	no	no	no	NA
SLC38A2	HGNC:13448	MGI:1915010	-	-	yes	no	no	no	NA
SLC38A3	HGNC:18044	MGI:1923507	OMIM:619881|ORPHA:442835	Developmental And Epileptic Encephalopathy 102|Non-Specific Early-Onset Epileptic Encephalopathy	yes	yes	yes	no	NA
SLC38A4	HGNC:14679	MGI:1916604	-	-	no	no	no	no	NA
SLC38A5	HGNC:18070	MGI:2148066	-	-	no	no	no	no	NA
SLC38A6	HGNC:19863	MGI:3648156	-	-	yes	no	no	no	NA
SLC38A7	HGNC:25582	MGI:2679005	-	-	yes	no	no	no	NA
SLC38A8	HGNC:32434	MGI:2685433	OMIM:609218|ORPHA:397618	Foveal Hypoplasia 2|Foveal Hypoplasia-Optic Nerve Decussation Defect-Anterior Segment Dysgenesis Syndrome	yes	yes	yes	no	NA
SLC38A9	HGNC:26907	MGI:1918839	-	-	no	no	no	no	NA
SLC39A1	HGNC:12876	MGI:1353474	-	-	no	no	no	no	NA
SLC39A10	HGNC:20861	MGI:1914515	-	-	yes	no	no	no	NA
SLC39A11	HGNC:14463	MGI:1917056	-	-	no	no	no	no	NA
SLC39A12	HGNC:20860	MGI:2139274	-	-	no	no	no	no	NA
SLC39A13	HGNC:20859	MGI:1915677	OMIM:612350|ORPHA:157965	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3|Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	no	no	no	no	NA
SLC39A14	HGNC:20858	MGI:2384851	OMIM:144755|OMIM:617013|ORPHA:521406	Hyperostosis Cranialis Interna|Hypermanganesemia With Dystonia 2|Dystonia-Parkinsonism-Hypermanganesemia Syndrome	yes	yes	yes	no	NA
SLC39A2	HGNC:17127	MGI:2684326	-	-	no	no	no	no	NA
SLC39A3	HGNC:17128	MGI:2147269	-	-	no	no	no	no	NA
SLC39A4	HGNC:17129	MGI:1919277	OMIM:201100|ORPHA:37	Acrodermatitis Enteropathica, Zinc-Deficiency Type|Acrodermatitis Enteropathica	yes	yes	yes	no	NA
SLC39A5	HGNC:20502	MGI:1919336	OMIM:615946	Myopia 24, Autosomal Dominant	yes	yes	yes	no	NA
SLC39A6	HGNC:18607	MGI:2147279	-	-	no	no	no	no	NA
SLC39A7	HGNC:4927	MGI:95909	OMIM:619693|ORPHA:33110	Agammaglobulinemia 9, Autosomal Recessive|Autosomal Agammaglobulinemia	yes	yes	yes	no	NA
SLC39A8	HGNC:20862	MGI:1914797	OMIM:616721|ORPHA:468699	Congenital Disorder Of Glycosylation, Type Iin|Slc39A8-Cdg	yes	yes	yes	yes	17.375
SLC39A9	HGNC:20182	MGI:1914820	-	-	no	no	no	no	NA
SLC3A1	HGNC:11025	MGI:1195264	OMIM:220100|ORPHA:163693|ORPHA:163690|ORPHA:238523|ORPHA:93612	Cystinuria|2P21 Microdeletion Syndrome|Hypotonia-Cystinuria Syndrome|Atypical Hypotonia-Cystinuria Syndrome|Cystinuria Type A	yes	yes	yes	yes	37.315
SLC3A2	HGNC:11026	MGI:96955	-	-	no	no	no	no	NA
SLC40A1	HGNC:10909	MGI:1315204	OMIM:606069|ORPHA:648562|ORPHA:647834	Hemochromatosis, Type 4|Ferroportin Disease|Slc40A1-Related Hemochromatosis	yes	yes	yes	yes	24.45
SLC41A1	HGNC:19429	MGI:2444823	OMIM:619468	Nephronophthisis-Like Nephropathy 2	yes	no	yes	no	NA
SLC41A2	HGNC:31045	MGI:2442940	-	-	yes	no	no	no	NA
SLC41A3	HGNC:31046	MGI:1918949	-	-	yes	no	no	no	NA
SLC43A1	HGNC:9225	MGI:1931352	-	-	no	no	no	no	NA
SLC43A2	HGNC:23087	MGI:2442746	-	-	no	no	no	no	NA
SLC43A3	HGNC:17466	MGI:1931054	-	-	yes	no	no	no	NA
SLC44A1	HGNC:18798	MGI:2140592	OMIM:618868	Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline	yes	yes	yes	yes	28.77
SLC44A2	HGNC:17292	MGI:1915932	-	-	yes	no	no	no	NA
SLC44A3	HGNC:28689	MGI:2384860	-	-	yes	no	no	no	NA
SLC44A4	HGNC:13941	MGI:1917379	OMIM:617606|ORPHA:90635	Deafness, Autosomal Dominant 72|Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	yes	yes	yes	no	NA
SLC44A5	HGNC:28524	MGI:3035141	-	-	yes	no	no	no	NA
SLC45A1	HGNC:17939	MGI:2653235	OMIM:617532|ORPHA:88616	Intellectual Developmental Disorder With Neuropsychiatric Features|Autosomal Recessive Non-Syndromic Intellectual Disability	no	no	no	no	NA
SLC45A2	HGNC:16472	MGI:2153040	OMIM:606574|OMIM:227240|ORPHA:79435	Albinism, Oculocutaneous, Type Iv|Skin/Hair/Eye Pigmentation, Variation In, 5|Oculocutaneous Albinism Type 4	no	no	no	no	NA
SLC45A3	HGNC:8642	MGI:1922082	-	-	yes	no	no	no	NA
SLC45A4	HGNC:29196	MGI:2146236	-	-	no	no	no	no	NA
SLC46A1	HGNC:30521	MGI:1098733	OMIM:229050|ORPHA:90045	Folate Malabsorption, Hereditary|Hereditary Folate Malabsorption	yes	yes	yes	yes	29.595
SLC46A2	HGNC:16055	MGI:1353616	-	-	no	no	no	no	NA
SLC46A3	HGNC:27501	MGI:1918956	-	-	yes	no	no	no	NA
SLC47A1	HGNC:25588	MGI:1914723	-	-	yes	no	no	no	NA
SLC48A1	HGNC:26035	MGI:1914989	-	-	yes	no	no	no	NA
SLC49A3	HGNC:26177	MGI:2442629	-	-	no	no	no	no	NA
SLC49A4	HGNC:16628	MGI:2387188	ORPHA:422526	Hereditary Clear Cell Renal Cell Carcinoma	yes	yes	no	no	NA
SLC4A1	HGNC:11027	MGI:109393	OMIM:185020|OMIM:179800|OMIM:611590|OMIM:166900|OMIM:612653|OMIM:110500|OMIM:601551|OMIM:601550|OMIM:112010|OMIM:112050|OMIM:611162|ORPHA:822|ORPHA:3202|ORPHA:398088|ORPHA:93610|ORPHA:93608|ORPHA:98868	Cryohydrocytosis|Renal Tubular Acidosis, Distal, 1|Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia|Ovalocytosis, Southeast Asian|Spherocytosis, Type 4|Blood Group, Diego System|Blood Group--Froese|Blood Group--Swann System|Blood Group--Waldner Type|Blood Group--Wright Antigen|Malaria, Susceptibility To|Hereditary Spherocytosis|Dehydrated Hereditary Stomatocytosis|Hereditary Cryohydrocytosis With Normal Stomatin|Distal Renal Tubular Acidosis With Anemia|Autosomal Dominant Distal Renal Tubular Acidosis|Southeast Asian Ovalocytosis	no	no	no	no	NA
SLC4A10	HGNC:13811	MGI:2150150	-	-	yes	no	no	no	NA
SLC4A11	HGNC:16438	MGI:2138987	OMIM:613268|OMIM:217400|OMIM:217700|ORPHA:1490|ORPHA:293603|ORPHA:98974	Corneal Dystrophy, Fuchs Endothelial, 4|Corneal Dystrophy And Perceptive Deafness|Corneal Endothelial Dystrophy|Corneal Dystrophy-Perceptive Deafness Syndrome|Congenital Hereditary Endothelial Dystrophy Type Ii|Fuchs Endothelial Corneal Dystrophy	no	no	no	no	NA
SLC4A1AP	HGNC:13813	MGI:1196608	-	-	yes	no	no	no	NA
SLC4A2	HGNC:11028	MGI:109351	OMIM:620366	Osteopetrosis, Autosomal Recessive 9	no	no	no	no	NA
SLC4A3	HGNC:11029	MGI:109350	OMIM:620231|ORPHA:51083	Short Qt Syndrome 7|Familial Short Qt Syndrome	no	no	no	no	NA
SLC4A4	HGNC:11030	MGI:1927555	OMIM:604278|ORPHA:93607	Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development|Autosomal Recessive Proximal Renal Tubular Acidosis	no	no	no	no	NA
SLC4A5	HGNC:18168	MGI:2443220	-	-	no	no	no	no	NA
SLC4A7	HGNC:11033	MGI:2443878	-	-	no	no	no	no	NA
SLC4A8	HGNC:11034	MGI:1928745	-	-	yes	no	no	no	NA
SLC4A9	HGNC:11035	MGI:2443384	-	-	no	no	no	no	NA
SLC50A1	HGNC:30657	MGI:107417	-	-	yes	no	no	no	NA
SLC51A	HGNC:29955	MGI:2146634	OMIM:619484	Cholestasis, Progressive Familial Intrahepatic, 6	no	no	no	no	NA
SLC51B	HGNC:29956	MGI:3582052	OMIM:619481	Bile Acid Malabsorption, Primary, 2	yes	yes	yes	yes	22.925
SLC52A3	HGNC:16187	MGI:1916948	OMIM:211500|OMIM:211530|ORPHA:572550	Fazio-Londe Disease|Brown-Vialetto-Van Laere Syndrome 1|Rfvt3-Related Riboflavin Transporter Deficiency	yes	yes	yes	no	NA
SLC5A1	HGNC:11036	MGI:107678	OMIM:606824|ORPHA:35710	Glucose/Galactose Malabsorption|Glucose-Galactose Malabsorption	no	no	no	no	NA
SLC5A10	HGNC:23155	MGI:1926089	-	-	yes	no	no	no	NA
SLC5A11	HGNC:23091	MGI:1919316	-	-	no	no	no	no	NA
SLC5A12	HGNC:28750	MGI:2138890	-	-	no	no	no	no	NA
SLC5A2	HGNC:11037	MGI:2181411	OMIM:233100|ORPHA:69076	Renal Glucosuria|Familial Renal Glucosuria	yes	no	yes	no	NA
SLC5A3	HGNC:11038	MGI:1858226	-	-	no	no	no	no	NA
SLC5A5	HGNC:11040	MGI:2149330	OMIM:274400|ORPHA:95716	Thyroid Dyshormonogenesis 1|Familial Thyroid Dyshormonogenesis	yes	yes	yes	yes	34.485
SLC5A6	HGNC:11041	MGI:2660847	OMIM:619903|OMIM:618973	Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive|Sodium-Dependent Multivitamin Transporter Deficiency	yes	yes	yes	no	NA
SLC5A7	HGNC:14025	MGI:1927126	OMIM:617143|OMIM:158580|ORPHA:139589|ORPHA:98914	Myasthenic Syndrome, Congenital, 20, Presynaptic|Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7|Distal Hereditary Motor Neuropathy Type 7|Presynaptic Congenital Myasthenic Syndromes	yes	yes	yes	yes	15.075
SLC5A8	HGNC:19119	MGI:2384916	-	-	no	no	no	no	NA
SLC5A9	HGNC:22146	MGI:2140201	-	-	yes	no	no	no	NA
SLC66A1	HGNC:26001	MGI:2384837	-	-	no	no	no	no	NA
SLC66A2	HGNC:26188	MGI:1914193	-	-	no	no	no	no	NA
SLC66A3	HGNC:28503	MGI:2444067	-	-	yes	no	no	no	NA
SLC6A1	HGNC:11042	MGI:95627	OMIM:616421|ORPHA:178469|ORPHA:1942	Myoclonic-Atonic Epilepsy|Autosomal Dominant Non-Syndromic Intellectual Disability|Myoclonic-Astatic Epilepsy	no	no	no	no	NA
SLC6A11	HGNC:11044	MGI:95630	-	-	no	no	no	no	NA
SLC6A12	HGNC:11045	MGI:95628	-	-	no	no	no	no	NA
SLC6A13	HGNC:11046	MGI:95629	-	-	no	no	no	no	NA
SLC6A14	HGNC:11047	MGI:1890216	ORPHA:586	Cystic Fibrosis	yes	yes	yes	yes	27.66
SLC6A15	HGNC:13621	MGI:2143484	-	-	yes	no	no	no	NA
SLC6A16	HGNC:13622	MGI:2685930	-	-	yes	no	no	no	NA
SLC6A17	HGNC:31399	MGI:2442535	OMIM:616269|ORPHA:457212	Intellectual Developmental Disorder, Autosomal Recessive 48|Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome	no	no	no	no	NA
SLC6A18	HGNC:26441	MGI:1336892	ORPHA:42062	Iminoglycinuria	no	no	no	no	NA
SLC6A19	HGNC:27960	MGI:1921588	OMIM:234500|ORPHA:2116|ORPHA:42062	Hartnup Disorder|Hartnup Disease|Iminoglycinuria	no	no	no	no	NA
SLC6A2	HGNC:11048	MGI:1270850	OMIM:604715|ORPHA:443236	Orthostatic Intolerance|Postural Orthostatic Tachycardia Syndrome Due To Net Deficiency	yes	yes	yes	no	NA
SLC6A3	HGNC:11049	MGI:94862	OMIM:613135|OMIM:188890|ORPHA:238455	Parkinsonism-Dystonia 1, Infantile-Onset|Tobacco Addiction, Susceptibility To|Infantile Dystonia-Parkinsonism	yes	yes	yes	yes	19.845
SLC6A4	HGNC:11050	MGI:96285	OMIM:607834|OMIM:164230	Anxiety|Obsessive-Compulsive Disorder	no	no	no	no	NA
SLC6A5	HGNC:11051	MGI:105090	OMIM:614618|ORPHA:3197	Hyperekplexia 3|Hereditary Hyperekplexia	yes	yes	yes	no	NA
SLC6A6	HGNC:11052	MGI:98488	OMIM:145350	Hypotaurinemic Retinal Degeneration And Cardiomyopathy	yes	yes	yes	yes	30.885
SLC6A7	HGNC:11054	MGI:2147363	-	-	yes	no	no	no	NA
SLC6A8	HGNC:11055	MGI:2147834	OMIM:300352|ORPHA:52503	Cerebral Creatine Deficiency Syndrome 1|X-Linked Creatine Transporter Deficiency	no	no	no	no	NA
SLC6A9	HGNC:11056	MGI:95760	OMIM:617301|ORPHA:289863|ORPHA:289860	Glycine Encephalopathy With Normal Serum Glycine|Atypical Glycine Encephalopathy|Infantile Glycine Encephalopathy	no	no	no	no	NA
SLC7A1	HGNC:11057	MGI:88117	-	-	no	no	no	no	NA
SLC7A10	HGNC:11058	MGI:1858261	-	-	no	no	no	no	NA
SLC7A11	HGNC:11059	MGI:1347355	-	-	yes	no	no	no	NA
SLC7A13	HGNC:23092	MGI:1921337	-	-	yes	no	no	no	NA
SLC7A14	HGNC:29326	MGI:3040688	OMIM:615725|ORPHA:791	Retinitis Pigmentosa 68|Retinitis Pigmentosa	yes	no	yes	no	NA
SLC7A2	HGNC:11060	MGI:99828	-	-	yes	no	no	no	NA
SLC7A3	HGNC:11061	MGI:1100521	-	-	yes	no	no	no	NA
SLC7A4	HGNC:11062	MGI:2146512	-	-	no	no	no	no	NA
SLC7A5	HGNC:11063	MGI:1298205	-	-	yes	no	no	no	NA
SLC7A6	HGNC:11064	MGI:2142598	-	-	no	no	no	no	NA
SLC7A6OS	HGNC:25807	MGI:1916951	OMIM:619191	Epilepsy, Progressive Myoclonic, 12	yes	yes	yes	no	NA
SLC7A7	HGNC:11065	MGI:1337120	OMIM:222700|ORPHA:470	Lysinuric Protein Intolerance	yes	yes	yes	yes	16.19
SLC7A8	HGNC:11066	MGI:1355323	-	-	yes	no	no	no	NA
SLC7A9	HGNC:11067	MGI:1353656	OMIM:220100|ORPHA:93613	Cystinuria|Cystinuria Type B	no	no	no	no	NA
SLC8A1	HGNC:11068	MGI:107956	-	-	no	no	no	no	NA
SLC8A2	HGNC:11069	MGI:107996	-	-	no	no	no	no	NA
SLC8A3	HGNC:11070	MGI:107976	-	-	yes	no	no	no	NA
SLC8B1	HGNC:26175	MGI:2180781	-	-	yes	no	no	no	NA
SLC9A1	HGNC:11071	MGI:102462	OMIM:616291|ORPHA:448251	Lichtenstein-Knorr Syndrome|Progressive Autosomal Recessive Ataxia-Deafness Syndrome	yes	yes	yes	no	NA
SLC9A2	HGNC:11072	MGI:105075	-	-	no	no	no	no	NA
SLC9A3	HGNC:11073	MGI:105064	OMIM:616868|ORPHA:586|ORPHA:103908	Diarrhea 8, Secretory Sodium, Congenital|Cystic Fibrosis|Congenital Sodium Diarrhea	yes	yes	yes	no	NA
SLC9A4	HGNC:11077	MGI:105074	-	-	yes	no	no	no	NA
SLC9A5	HGNC:11078	MGI:2685542	-	-	yes	no	no	no	NA
SLC9A6	HGNC:11079	MGI:2443511	OMIM:300243|ORPHA:85278	Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type|Christianson Syndrome	no	no	no	no	NA
SLC9A7	HGNC:17123	MGI:2444530	OMIM:301024|ORPHA:777	Intellectual Developmental Disorder, X-Linked 108|X-Linked Non-Syndromic Intellectual Disability	yes	no	yes	no	NA
SLC9A8	HGNC:20728	MGI:1924281	-	-	yes	no	no	no	NA
SLC9A9	HGNC:20653	MGI:2679732	OMIM:613410|ORPHA:106	Autism, Susceptibility To, 16|Non Rare In Europe: Autism	yes	yes	no	no	NA
SLC9B1	HGNC:24244	MGI:1921696	-	-	yes	no	no	no	NA
SLC9B2	HGNC:25143	MGI:2140077	-	-	yes	no	no	no	NA
SLC9C1	HGNC:31401	MGI:2685456	-	-	no	no	no	no	NA
SLCO1C1	HGNC:13819	MGI:1889679	-	-	no	no	no	no	NA
SLCO2A1	HGNC:10955	MGI:1346021	OMIM:167100|OMIM:614441|ORPHA:2796|ORPHA:468641	Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant|Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2|Pachydermoperiostosis|Chronic Enteropathy Associated With Slco2A1 Gene	no	no	no	no	NA
SLCO2B1	HGNC:10962	MGI:1351872	-	-	yes	no	no	no	NA
SLCO3A1	HGNC:10952	MGI:1351867	-	-	no	no	no	no	NA
SLCO4A1	HGNC:10953	MGI:1351866	-	-	no	no	no	no	NA
SLCO4C1	HGNC:23612	MGI:2442784	-	-	no	no	no	no	NA
SLCO5A1	HGNC:19046	MGI:2443431	-	-	no	no	no	no	NA
SLF1	HGNC:25408	MGI:2145448	-	-	yes	no	no	no	NA
SLF2	HGNC:17814	MGI:1924968	OMIM:620184	Atelis Syndrome 1	no	no	no	no	NA
SLFN14	HGNC:32689	MGI:2684866	OMIM:616913|ORPHA:466806	Bleeding Disorder, Platelet-Type, 20|Autosomal Dominant Thrombocytopenia With Platelet Secretion Defect	yes	yes	yes	yes	44.57
SLFN5	HGNC:28286	MGI:1329004	-	-	yes	no	no	no	NA
SLFNL1	HGNC:26313	MGI:3045330	-	-	no	no	no	no	NA
SLIRP	HGNC:20495	MGI:1916394	-	-	no	no	no	no	NA
SLIT1	HGNC:11085	MGI:1315203	-	-	yes	no	no	no	NA
SLIT2	HGNC:11086	MGI:1315205	-	-	yes	no	no	no	NA
SLIT3	HGNC:11087	MGI:1315202	-	-	no	no	no	no	NA
SLITRK1	HGNC:20297	MGI:2679446	OMIM:613229|OMIM:137580|ORPHA:856	Trichotillomania|Gilles De La Tourette Syndrome|Non Rare In Europe: Tourette Syndrome	yes	yes	yes	no	NA
SLITRK2	HGNC:13449	MGI:2679449	OMIM:301107	Intellectual Developmental Disorder, X-Linked 111	yes	yes	yes	yes	36.97
SLITRK3	HGNC:23501	MGI:2679447	-	-	no	no	no	no	NA
SLITRK4	HGNC:23502	MGI:2442509	-	-	yes	no	no	no	NA
SLITRK5	HGNC:20295	MGI:2679448	-	-	yes	no	no	no	NA
SLITRK6	HGNC:23503	MGI:2443198	OMIM:221200|ORPHA:363396|ORPHA:90636	Deafness And Myopia|High Myopia-Sensorineural Deafness Syndrome|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	no	no	no	no	NA
SLK	HGNC:11088	MGI:103241	-	-	yes	no	no	no	NA
SLMAP	HGNC:16643	MGI:1933549	ORPHA:130	Brugada Syndrome	yes	yes	yes	no	NA
SLN	HGNC:11089	MGI:1913652	-	-	no	no	no	no	NA
SLPI	HGNC:11092	MGI:109297	-	-	no	no	no	no	NA
SLTM	HGNC:20709	MGI:1913910	-	-	no	no	no	no	NA
SLU7	HGNC:16939	MGI:2385598	-	-	yes	no	no	no	NA
SLURP1	HGNC:18746	MGI:1930923	OMIM:248300|ORPHA:87503|ORPHA:86923	Mal De Meleda|Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	yes	yes	yes	no	NA
SLX4	HGNC:23845	MGI:106299	OMIM:613951|ORPHA:84	Fanconi Anemia, Complementation Group P|Fanconi Anemia	yes	no	yes	no	NA
SLX4IP	HGNC:16225	MGI:1921493	-	-	yes	no	no	no	NA
SLX9	HGNC:15811	MGI:1916334	-	-	yes	no	no	no	NA
SMAD1	HGNC:6767	MGI:109452	-	-	no	no	no	no	NA
SMAD2	HGNC:6768	MGI:108051	OMIM:619657|OMIM:619656|ORPHA:91387	Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy|Loeys-Dietz Syndrome 6|Familial Thoracic Aortic Aneurysm And Aortic Dissection	no	no	no	no	NA
SMAD3	HGNC:6769	MGI:1201674	OMIM:613795|ORPHA:284984|ORPHA:91387	Loeys-Dietz Syndrome 3|Aneurysm-Osteoarthritis Syndrome|Familial Thoracic Aortic Aneurysm And Aortic Dissection	yes	yes	yes	no	NA
SMAD4	HGNC:6770	MGI:894293	OMIM:175050|OMIM:139210|OMIM:260350|OMIM:174900|ORPHA:774|ORPHA:2588|ORPHA:1333|ORPHA:329971|ORPHA:91387	Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome|Myhre Syndrome|Pancreatic Cancer|Juvenile Polyposis Syndrome|Hereditary Hemorrhagic Telangiectasia|Familial Pancreatic Carcinoma|Generalized Juvenile Polyposis/Juvenile Polyposis Coli|Familial Thoracic Aortic Aneurysm And Aortic Dissection	no	no	no	no	NA
SMAD5	HGNC:6771	MGI:1328787	-	-	no	no	no	no	NA
SMAD6	HGNC:6772	MGI:1336883	OMIM:614823|OMIM:617439|OMIM:179300|ORPHA:402075	Aortic Valve Disease 2|Craniosynostosis 7|Radioulnar Synostosis, Nonsyndromic, Susceptibility To|Familial Bicuspid Aortic Valve	no	no	no	no	NA
SMAD7	HGNC:6773	MGI:1100518	OMIM:612229	Colorectal Cancer, Susceptibility To, 3	no	no	no	no	NA
SMAD9	HGNC:6774	MGI:1859993	OMIM:615342|ORPHA:275777	Pulmonary Hypertension, Primary, 2|Heritable Pulmonary Arterial Hypertension	no	no	no	no	NA
SMAGP	HGNC:26918	MGI:2448476	-	-	yes	no	no	no	NA
SMAP1	HGNC:19651	MGI:2138261	-	-	no	no	no	no	NA
SMAP2	HGNC:25082	MGI:1917030	-	-	no	no	no	no	NA
SMARCA1	HGNC:11097	MGI:1935127	-	-	no	no	no	no	NA
SMARCA2	HGNC:11098	MGI:99603	OMIM:619293|OMIM:601358|ORPHA:3051|ORPHA:637013	Blepharophimosis-Impaired Intellectual Development Syndrome|Nicolaides-Baraitser Syndrome|Smarca2-Related Blepharophimosis-Intellectual Disability Syndrome	yes	yes	yes	yes	37.995
SMARCA4	HGNC:11100	MGI:88192	OMIM:614609|OMIM:613325|ORPHA:1465|ORPHA:231108|ORPHA:370396|ORPHA:466962	Coffin-Siris Syndrome 4|Rhabdoid Tumor Predisposition Syndrome 2|Coffin-Siris Syndrome|Rhabdoid Tumor Predisposition Syndrome|Small Cell Carcinoma Of The Ovary|Smarca4-Deficient Sarcoma Of Thorax	no	no	no	no	NA
SMARCA5	HGNC:11101	MGI:1935129	ORPHA:370334	Extraskeletal Ewing Sarcoma	no	no	no	no	NA
SMARCAD1	HGNC:18398	MGI:95453	OMIM:136000|OMIM:129200|OMIM:181600|ORPHA:1658|ORPHA:289465|ORPHA:384	Adermatoglyphia|Basan Syndrome|Huriez Syndrome|Absence Of Fingerprints-Congenital Milia Syndrome|Isolated Congenital Adermatoglyphia	yes	yes	yes	no	NA
SMARCAL1	HGNC:11102	MGI:1859183	OMIM:242900|ORPHA:1830	Schimke Immunoosseous Dysplasia|Schimke Immuno-Osseous Dysplasia	yes	yes	yes	yes	32.745
SMARCB1	HGNC:11103	MGI:1328366	OMIM:614608|OMIM:609322|OMIM:162091|ORPHA:1465|ORPHA:2495|ORPHA:263662|ORPHA:231108|ORPHA:93921|ORPHA:99966	Coffin-Siris Syndrome 3|Rhabdoid Tumor Predisposition Syndrome 1|Schwannomatosis 1|Coffin-Siris Syndrome|Meningioma|Familial Multiple Meningioma|Rhabdoid Tumor Predisposition Syndrome|Full Schwannomatosis|Atypical Teratoid Rhabdoid Tumor	yes	yes	yes	yes	29
SMARCC1	HGNC:11104	MGI:1203524	OMIM:620241	Hydrocephalus, Congenital, 5, Susceptibility To	no	no	no	no	NA
SMARCC2	HGNC:11105	MGI:1915344	OMIM:618362|ORPHA:1465	Coffin-Siris Syndrome 8|Coffin-Siris Syndrome	yes	yes	yes	yes	33.28
SMARCD1	HGNC:11106	MGI:1933623	OMIM:618779|ORPHA:1465	Coffin-Siris Syndrome 11|Coffin-Siris Syndrome	no	no	no	no	NA
SMARCD2	HGNC:11107	MGI:1933621	OMIM:617475|ORPHA:169142	Specific Granule Deficiency 2|Recurrent Infection Due To Specific Granule Deficiency	yes	yes	yes	yes	35.96
SMARCD3	HGNC:11108	MGI:1914243	-	-	yes	no	no	no	NA
SMARCE1	HGNC:11109	MGI:1927347	OMIM:616938|OMIM:607174|ORPHA:1465|ORPHA:2495|ORPHA:263662	Coffin-Siris Syndrome 5|Meningioma, Familial, Susceptibility To|Coffin-Siris Syndrome|Meningioma|Familial Multiple Meningioma	yes	yes	yes	yes	21.695
SMC1A	HGNC:11111	MGI:1344345	OMIM:300590|OMIM:301044|ORPHA:199|ORPHA:3095|ORPHA:220386	Cornelia De Lange Syndrome 2|Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects|Cornelia De Lange Syndrome|Atypical Rett Syndrome|Semilobar Holoprosencephaly	no	no	no	no	NA
SMC1B	HGNC:11112	MGI:2154049	-	-	no	no	no	no	NA
SMC2	HGNC:14011	MGI:106067	-	-	no	no	no	no	NA
SMC3	HGNC:2468	MGI:1339795	OMIM:610759|ORPHA:199	Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects|Cornelia De Lange Syndrome	yes	yes	yes	yes	29.1
SMC4	HGNC:14013	MGI:1917349	-	-	no	no	no	no	NA
SMC5	HGNC:20465	MGI:2385088	OMIM:620185	Atelis Syndrome 2	yes	yes	yes	yes	45.575
SMC6	HGNC:20466	MGI:1914491	-	-	yes	no	no	no	NA
SMCHD1	HGNC:29090	MGI:1921605	OMIM:603457|OMIM:158901|ORPHA:269|ORPHA:2250	Bosma Arhinia Microphthalmia Syndrome|Facioscapulohumeral Muscular Dystrophy 2, Digenic|Facioscapulohumeral Dystrophy|Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	yes	yes	yes	yes	20.87
SMCO1	HGNC:27407	MGI:1916826	-	-	no	no	no	no	NA
SMCO2	HGNC:34448	MGI:1916621	-	-	yes	no	no	no	NA
SMCO3	HGNC:34401	MGI:2443451	-	-	no	no	no	no	NA
SMCO4	HGNC:24810	MGI:3039636	-	-	no	no	no	no	NA
SMCR8	HGNC:17921	MGI:2444720	-	-	no	no	no	no	NA
SMDT1	HGNC:25055	MGI:1916279	-	-	yes	no	no	no	NA
SMG1	HGNC:30045	MGI:1919742	-	-	yes	no	no	no	NA
SMG5	HGNC:24644	MGI:2447364	-	-	yes	no	no	no	NA
SMG6	HGNC:17809	MGI:2144117	-	-	yes	no	no	no	NA
SMG7	HGNC:16792	MGI:2682334	-	-	no	no	no	no	NA
SMG8	HGNC:25551	MGI:1921383	OMIM:619268	Alzahrani-Kuwahara Syndrome	yes	yes	yes	no	NA
SMG9	HGNC:25763	MGI:1919247	OMIM:616920|OMIM:619995	Heart And Brain Malformation Syndrome|Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	yes	yes	yes	no	NA
SMIM1	HGNC:44204	MGI:1916109	OMIM:615264	Blood Group, Vel System	yes	no	no	no	NA
SMIM10L1	HGNC:49847	MGI:1914379	-	-	no	no	no	no	NA
SMIM10L2A	HGNC:34499	MGI:2443645	-	-	no	no	no	no	NA
SMIM11	HGNC:1293	MGI:1916186	-	-	yes	no	no	no	NA
SMIM12	HGNC:25154	MGI:1933141	-	-	no	no	no	no	NA
SMIM13	HGNC:27356	MGI:2652854	-	-	no	no	no	no	NA
SMIM14	HGNC:27321	MGI:1915802	-	-	no	no	no	no	NA
SMIM15	HGNC:33861	MGI:1922866	-	-	no	no	no	no	NA
SMIM17	HGNC:27114	MGI:4365374	-	-	yes	no	no	no	NA
SMIM18	HGNC:42973	MGI:1919882	-	-	no	no	no	no	NA
SMIM19	HGNC:25166	MGI:2142501	-	-	no	no	no	no	NA
SMIM20	HGNC:37260	MGI:1913528	-	-	yes	no	no	no	NA
SMIM22	HGNC:48329	MGI:3643379	-	-	yes	no	no	no	NA
SMIM23	HGNC:34440	MGI:1916601	-	-	yes	no	no	no	NA
SMIM24	HGNC:37244	MGI:1919523	-	-	no	no	no	no	NA
SMIM26	HGNC:43430	MGI:2685407	-	-	no	no	no	no	NA
SMIM29	HGNC:1340	MGI:2146839	-	-	no	no	no	no	NA
SMIM3	HGNC:30248	MGI:1917088	-	-	no	no	no	no	NA
SMIM30	HGNC:48953	MGI:1913770	-	-	no	no	no	no	NA
SMIM32	HGNC:53640	MGI:5791459	-	-	no	no	no	no	NA
SMIM33	HGNC:53645	MGI:1920699	-	-	no	no	no	no	NA
SMIM5	HGNC:40030	MGI:1913778	-	-	no	no	no	no	NA
SMIM6	HGNC:40032	MGI:1915778	-	-	yes	no	no	no	NA
SMIM7	HGNC:28419	MGI:1914068	-	-	no	no	no	no	NA
SMIM8	HGNC:21401	MGI:1913541	-	-	yes	no	no	no	NA
SMIM9	HGNC:41915	MGI:3588243	-	-	no	no	no	no	NA
SMLR1	HGNC:44670	MGI:1922856	-	-	no	no	no	no	NA
SMNDC1	HGNC:16900	MGI:1923729	-	-	no	no	no	no	NA
SMO	HGNC:11119	MGI:108075	OMIM:605462|OMIM:601707|OMIM:241800|ORPHA:388|ORPHA:2495|ORPHA:1553	Basal Cell Carcinoma, Susceptibility To, 1|Curry-Jones Syndrome|Pallister-Hall-Like Syndrome|Hirschsprung Disease|Meningioma	yes	yes	yes	yes	21.01
SMOC1	HGNC:20318	MGI:1929878	OMIM:206920|ORPHA:1106	Microphthalmia With Limb Anomalies	yes	yes	yes	yes	62.985
SMOC2	HGNC:20323	MGI:1929881	OMIM:125400|ORPHA:314721	Dentin Dysplasia, Type I|Atypical Dentin Dysplasia Due To Smoc2 Deficiency	yes	yes	yes	no	NA
SMOX	HGNC:15862	MGI:2445356	-	-	no	no	no	no	NA
SMPD1	HGNC:11120	MGI:98325	OMIM:257200|OMIM:607616|ORPHA:77293|ORPHA:77292	Niemann-Pick Disease, Type A|Niemann-Pick Disease, Type B|Chronic Visceral Acid Sphingomyelinase Deficiency|Infantile Neurovisceral Acid Sphingomyelinase Deficiency	no	no	no	no	NA
SMPD2	HGNC:11121	MGI:1278330	-	-	no	no	no	no	NA
SMPD3	HGNC:14240	MGI:1927578	-	-	no	no	no	no	NA
SMPD4	HGNC:32949	MGI:1924876	OMIM:618622	Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	yes	yes	yes	no	NA
SMPDL3A	HGNC:17389	MGI:1931437	-	-	yes	no	no	no	NA
SMPDL3B	HGNC:21416	MGI:1916022	-	-	yes	no	no	no	NA
SMPX	HGNC:11122	MGI:1913356	OMIM:300066|OMIM:301075|ORPHA:90625	Deafness, X-Linked 4|Myopathy, Distal, 7, Adult-Onset, X-Linked|Rare X-Linked Non-Syndromic Sensorineural Deafness Type Dfn	no	no	no	no	NA
SMS	HGNC:11123	MGI:109490	OMIM:309583|ORPHA:3063	Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type|X-Linked Intellectual Disability, Snyder Type	yes	yes	yes	yes	34.13
SMTN	HGNC:11126	MGI:1354727	-	-	no	no	no	no	NA
SMTNL1	HGNC:32394	MGI:1915928	-	-	no	no	no	no	NA
SMTNL2	HGNC:24764	MGI:2442764	-	-	no	no	no	no	NA
SMU1	HGNC:18247	MGI:1915546	-	-	no	no	no	no	NA
SMUG1	HGNC:17148	MGI:1918976	-	-	no	no	no	no	NA
SMURF1	HGNC:16807	MGI:1923038	-	-	yes	no	no	no	NA
SMURF2	HGNC:16809	MGI:1913563	-	-	yes	no	no	no	NA
SMYD1	HGNC:20986	MGI:104790	-	-	no	no	no	no	NA
SMYD2	HGNC:20982	MGI:1915889	-	-	yes	no	no	no	NA
SMYD3	HGNC:15513	MGI:1916976	-	-	yes	no	no	no	NA
SMYD4	HGNC:21067	MGI:2442796	-	-	yes	no	no	no	NA
SMYD5	HGNC:16258	MGI:108048	-	-	yes	no	no	no	NA
SNAI1	HGNC:11128	MGI:98330	-	-	no	no	no	no	NA
SNAI2	HGNC:11094	MGI:1096393	ORPHA:895|ORPHA:2884	Waardenburg Syndrome Type 2|Piebaldism	yes	yes	yes	yes	57.885
SNAI3	HGNC:18411	MGI:1353563	-	-	yes	no	no	no	NA
SNAP23	HGNC:11131	MGI:109356	-	-	yes	no	no	no	NA
SNAP25	HGNC:11132	MGI:98331	OMIM:616330|ORPHA:98914	Myasthenic Syndrome, Congenital, 18|Presynaptic Congenital Myasthenic Syndromes	no	no	no	no	NA
SNAP29	HGNC:11133	MGI:1914724	OMIM:609528|ORPHA:66631	Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome|Cednik Syndrome	yes	yes	yes	yes	20.765
SNAP47	HGNC:30669	MGI:1915076	-	-	yes	no	no	no	NA
SNAP91	HGNC:14986	MGI:109132	-	-	yes	no	no	no	NA
SNAPC1	HGNC:11134	MGI:1922877	-	-	yes	no	no	no	NA
SNAPC2	HGNC:11135	MGI:1914861	-	-	yes	no	no	no	NA
SNAPC3	HGNC:11136	MGI:1916338	-	-	no	no	no	no	NA
SNAPC4	HGNC:11137	MGI:2443935	OMIM:620515	Neurodevelopmental Disorder With Motor Regression, Progressive Spastic Paraplegia, And Oromotor Dysfunction	yes	yes	no	no	NA
SNAPC5	HGNC:15484	MGI:1914282	-	-	no	no	no	no	NA
SNAPIN	HGNC:17145	MGI:1333745	-	-	yes	no	no	no	NA
SNCA	HGNC:11138	MGI:1277151	OMIM:127750|OMIM:168601|OMIM:605543|ORPHA:171695|ORPHA:2828|ORPHA:1648|ORPHA:411602	Dementia, Lewy Body|Parkinson Disease 1, Autosomal Dominant|Parkinson Disease 4, Autosomal Dominant|Parkinsonian-Pyramidal Syndrome|Young-Onset Parkinson Disease|Non Rare In Europe: Dementia With Lewy Body|Hereditary Late-Onset Parkinson Disease	yes	yes	yes	yes	29.975
SNCAIP	HGNC:11139	MGI:1915097	-	-	no	no	no	no	NA
SNCB	HGNC:11140	MGI:1889011	OMIM:127750|ORPHA:1648	Dementia, Lewy Body|Non Rare In Europe: Dementia With Lewy Body	yes	yes	yes	no	NA
SNCG	HGNC:11141	MGI:1298397	-	-	yes	no	no	no	NA
SND1	HGNC:30646	MGI:1929266	-	-	yes	no	no	no	NA
SNED1	HGNC:24696	MGI:3045960	-	-	no	no	no	no	NA
SNF8	HGNC:17028	MGI:1343161	-	-	yes	no	no	no	NA
SNIP1	HGNC:30587	MGI:2156003	OMIM:614501	Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	yes	yes	yes	no	NA
SNN	HGNC:11149	MGI:1276549	-	-	no	no	no	no	NA
SNORC	HGNC:33763	MGI:1920484	-	-	yes	no	no	no	NA
SNPH	HGNC:15931	MGI:2139270	-	-	yes	no	no	no	NA
SNRK	HGNC:30598	MGI:108104	-	-	no	no	no	no	NA
SNRNP200	HGNC:30859	MGI:2444401	OMIM:610359|ORPHA:791	Retinitis Pigmentosa 33|Retinitis Pigmentosa	yes	yes	yes	yes	38.045
SNRNP25	HGNC:14161	MGI:1925622	-	-	no	no	no	no	NA
SNRNP27	HGNC:30240	MGI:1913868	-	-	yes	no	no	no	NA
SNRNP35	HGNC:30852	MGI:1923417	-	-	no	no	no	no	NA
SNRNP40	HGNC:30857	MGI:1913835	-	-	yes	no	no	no	NA
SNRNP48	HGNC:21368	MGI:1915047	-	-	no	no	no	no	NA
SNRNP70	HGNC:11150	MGI:98341	-	-	yes	no	no	no	NA
SNRPA	HGNC:11151	MGI:1855690	-	-	no	no	no	no	NA
SNRPA1	HGNC:11152	MGI:1916231	-	-	no	no	no	no	NA
SNRPB	HGNC:11153	MGI:98342	OMIM:117650|ORPHA:1393	Cerebrocostomandibular Syndrome	no	no	no	no	NA
SNRPB2	HGNC:11155	MGI:104805	-	-	yes	no	no	no	NA
SNRPC	HGNC:11157	MGI:109489	-	-	no	no	no	no	NA
SNRPD1	HGNC:11158	MGI:98344	-	-	no	no	no	no	NA
SNRPD2	HGNC:11159	MGI:98345	-	-	no	no	no	no	NA
SNRPD3	HGNC:11160	MGI:1914582	-	-	no	no	no	no	NA
SNRPE	HGNC:11161	MGI:98346	OMIM:615059|ORPHA:55654	Hypotrichosis 11|Hypotrichosis Simplex	no	no	no	no	NA
SNRPF	HGNC:11162	MGI:1917128	-	-	no	no	no	no	NA
SNRPG	HGNC:11163	MGI:1915261	-	-	no	no	no	no	NA
SNRPN	HGNC:11164	MGI:98347	ORPHA:177901|ORPHA:177904|ORPHA:177907|ORPHA:177910|ORPHA:411515|ORPHA:98754	Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1|Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2|Prader-Willi Syndrome Due To Translocation|Prader-Willi Syndrome Due To Imprinting Mutation|Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13|Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	no	no	no	no	NA
SNTA1	HGNC:11167	MGI:101772	OMIM:612955|ORPHA:101016	Long Qt Syndrome 12|Romano-Ward Syndrome	no	no	no	no	NA
SNTB1	HGNC:11168	MGI:101781	-	-	no	no	no	no	NA
SNTB2	HGNC:11169	MGI:101771	-	-	no	no	no	no	NA
SNTG1	HGNC:13740	MGI:1918346	-	-	no	no	no	no	NA
SNTG2	HGNC:13741	MGI:1919541	-	-	yes	no	no	no	NA
SNTN	HGNC:33706	MGI:3045373	-	-	yes	no	no	no	NA
SNU13	HGNC:7819	MGI:893586	-	-	no	no	no	no	NA
SNUPN	HGNC:14245	MGI:1913319	-	-	no	no	no	no	NA
SNURF	HGNC:11171	MGI:1891236	-	-	no	no	no	no	NA
SNW1	HGNC:16696	MGI:1913604	-	-	no	no	no	no	NA
SNX1	HGNC:11172	MGI:1928395	-	-	no	no	no	no	NA
SNX10	HGNC:14974	MGI:1919232	OMIM:615085|ORPHA:667	Osteopetrosis, Autosomal Recessive 8|Autosomal Recessive Malignant Osteopetrosis	yes	yes	yes	no	NA
SNX11	HGNC:14975	MGI:1921729	-	-	no	no	no	no	NA
SNX12	HGNC:14976	MGI:1919331	-	-	yes	no	no	no	NA
SNX13	HGNC:21335	MGI:2661416	-	-	yes	no	no	no	NA
SNX14	HGNC:14977	MGI:2155664	OMIM:616354|ORPHA:397709	Spinocerebellar Ataxia, Autosomal Recessive 20|Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	yes	yes	yes	yes	13.315
SNX15	HGNC:14978	MGI:1916274	-	-	yes	no	no	no	NA
SNX16	HGNC:14980	MGI:1921968	-	-	no	no	no	no	NA
SNX17	HGNC:14979	MGI:2387801	-	-	no	no	no	no	NA
SNX18	HGNC:19245	MGI:2137642	-	-	yes	no	no	no	NA
SNX19	HGNC:21532	MGI:1921581	-	-	yes	no	no	no	NA
SNX2	HGNC:11173	MGI:1915054	-	-	no	no	no	no	NA
SNX20	HGNC:30390	MGI:1918857	-	-	no	no	no	no	NA
SNX21	HGNC:16154	MGI:1917729	-	-	yes	no	no	no	NA
SNX22	HGNC:16315	MGI:2685966	-	-	yes	no	no	no	NA
SNX24	HGNC:21533	MGI:1916476	-	-	no	no	no	no	NA
SNX25	HGNC:21883	MGI:2142610	-	-	yes	no	no	no	NA
SNX27	HGNC:20073	MGI:1923992	-	-	yes	no	no	no	NA
SNX29	HGNC:30542	MGI:1921728	-	-	yes	no	no	no	NA
SNX3	HGNC:11174	MGI:1860188	-	-	yes	no	no	no	NA
SNX30	HGNC:23685	MGI:2443882	-	-	no	no	no	no	NA
SNX31	HGNC:28605	MGI:1913946	-	-	yes	no	no	no	NA
SNX32	HGNC:26423	MGI:2444704	-	-	yes	no	no	no	NA
SNX33	HGNC:28468	MGI:2443239	-	-	yes	no	no	no	NA
SNX4	HGNC:11175	MGI:1916400	-	-	no	no	no	no	NA
SNX5	HGNC:14969	MGI:1916428	-	-	yes	no	no	no	NA
SNX6	HGNC:14970	MGI:1919433	-	-	yes	no	no	no	NA
SNX7	HGNC:14971	MGI:1923811	-	-	no	no	no	no	NA
SNX8	HGNC:14972	MGI:2443816	-	-	yes	no	no	no	NA
SNX9	HGNC:14973	MGI:1913866	-	-	no	no	no	no	NA
SOAT1	HGNC:11177	MGI:104665	-	-	no	no	no	no	NA
SOAT2	HGNC:11178	MGI:1332226	-	-	no	no	no	no	NA
SOBP	HGNC:29256	MGI:1924427	OMIM:613671|ORPHA:562559	Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus|Anterior Maxillary Protrusion-Strabismus-Intellectual Disability Syndrome	no	no	no	no	NA
SOCS1	HGNC:19383	MGI:1354910	OMIM:619375|ORPHA:619948	Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency|Early-Onset Autoimmunity-Autoinflammation-Immunodeficiency Syndrome	yes	yes	yes	no	NA
SOCS2	HGNC:19382	MGI:1201787	-	-	yes	no	no	no	NA
SOCS3	HGNC:19391	MGI:1201791	-	-	no	no	no	no	NA
SOCS4	HGNC:19392	MGI:1914546	-	-	no	no	no	no	NA
SOCS5	HGNC:16852	MGI:2385459	-	-	no	no	no	no	NA
SOCS6	HGNC:16833	MGI:1924885	-	-	no	no	no	no	NA
SOCS7	HGNC:29846	MGI:2651588	-	-	yes	no	no	no	NA
SOD1	HGNC:11179	MGI:98351	OMIM:105400|OMIM:618598|ORPHA:803	Amyotrophic Lateral Sclerosis 1|Spastic Tetraplegia And Axial Hypotonia, Progressive|Amyotrophic Lateral Sclerosis	no	no	no	no	NA
SOD2	HGNC:11180	MGI:98352	OMIM:612634	Microvascular Complications Of Diabetes, Susceptibility To, 6	no	no	no	no	NA
SOD3	HGNC:11181	MGI:103181	-	-	no	no	no	no	NA
SOHLH1	HGNC:27845	MGI:2684956	OMIM:617690|OMIM:618115|ORPHA:399805	Ovarian Dysgenesis 5|Spermatogenic Failure 32|Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	no	no	no	no	NA
SON	HGNC:11183	MGI:98353	OMIM:617140|ORPHA:500150	Zttk Syndrome|Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	yes	yes	yes	no	NA
SORBS1	HGNC:14565	MGI:700014	-	-	no	no	no	no	NA
SORBS2	HGNC:24098	MGI:1924574	-	-	yes	no	no	no	NA
SORBS3	HGNC:30907	MGI:700013	-	-	no	no	no	no	NA
SORCS1	HGNC:16697	MGI:1929666	-	-	no	no	no	no	NA
SORCS2	HGNC:16698	MGI:1932289	-	-	yes	no	no	no	NA
SORCS3	HGNC:16699	MGI:1913923	-	-	no	no	no	no	NA
SORD	HGNC:11184	MGI:98266	OMIM:618912	Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8	no	no	no	no	NA
SORL1	HGNC:11185	MGI:1202296	ORPHA:1020|ORPHA:238616	Early-Onset Autosomal Dominant Alzheimer Disease|Non Rare In Europe: Alzheimer Disease	yes	yes	yes	yes	25.98
SORT1	HGNC:11186	MGI:1338015	OMIM:613589	Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6	yes	yes	no	no	NA
SOS1	HGNC:11187	MGI:98354	OMIM:135300|OMIM:610733|ORPHA:648|ORPHA:2024	Fibromatosis, Gingival, 1|Noonan Syndrome 4|Noonan Syndrome|Hereditary Gingival Fibromatosis	no	no	no	no	NA
SOS2	HGNC:11188	MGI:98355	OMIM:616559|ORPHA:648	Noonan Syndrome 9|Noonan Syndrome	no	no	no	no	NA
SOST	HGNC:13771	MGI:1921749	OMIM:122860|OMIM:269500|ORPHA:1513|ORPHA:3416|ORPHA:3152	Craniodiaphyseal Dysplasia, Autosomal Dominant|Sclerosteosis 1|Craniodiaphyseal Dysplasia|Hyperostosis Corticalis Generalisata|Sclerosteosis	no	no	no	no	NA
SOSTDC1	HGNC:21748	MGI:1913292	-	-	yes	no	no	no	NA
SOWAHA	HGNC:27033	MGI:2687280	-	-	yes	no	no	no	NA
SOWAHB	HGNC:32958	MGI:1925338	-	-	no	no	no	no	NA
SOWAHC	HGNC:26149	MGI:3606051	-	-	no	no	no	no	NA
SOWAHD	HGNC:32960	MGI:3045274	-	-	no	no	no	no	NA
SOX1	HGNC:11189	MGI:98357	-	-	no	no	no	no	NA
SOX10	HGNC:11190	MGI:98358	OMIM:609136|OMIM:611584|OMIM:613266|ORPHA:163746|ORPHA:895|ORPHA:897|ORPHA:478	Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease|Waardenburg Syndrome, Type 2E|Waardenburg Syndrome, Type 4C|Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease|Waardenburg Syndrome Type 2|Waardenburg-Shah Syndrome|Kallmann Syndrome	no	no	no	no	NA
SOX11	HGNC:11191	MGI:98359	OMIM:615866|ORPHA:1465	Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism|Coffin-Siris Syndrome	no	no	no	no	NA
SOX12	HGNC:11198	MGI:98360	-	-	no	no	no	no	NA
SOX13	HGNC:11192	MGI:98361	-	-	yes	no	no	no	NA
SOX14	HGNC:11193	MGI:98362	-	-	yes	no	no	no	NA
SOX15	HGNC:11196	MGI:98363	-	-	no	no	no	no	NA
SOX17	HGNC:18122	MGI:107543	OMIM:613674|ORPHA:289365	Vesicoureteral Reflux 3|Familial Vesicoureteral Reflux	no	no	no	no	NA
SOX18	HGNC:11194	MGI:103559	OMIM:607823|OMIM:137940|ORPHA:69735	Hypotrichosis-Lymphedema-Telangiectasia Syndrome|Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	yes	yes	yes	no	NA
SOX2	HGNC:11195	MGI:98364	OMIM:206900|ORPHA:3157|ORPHA:77298|ORPHA:35612|ORPHA:98938	Microphthalmia, Syndromic 3|Septo-Optic Dysplasia Spectrum|Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome|Nanophthalmos|Colobomatous Microphthalmia	yes	yes	yes	yes	42.885
SOX21	HGNC:11197	MGI:2654070	-	-	yes	no	no	no	NA
SOX3	HGNC:11199	MGI:98365	OMIM:300123|OMIM:312000|ORPHA:3157|ORPHA:393|ORPHA:67045|ORPHA:90695|ORPHA:79495	Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism|Panhypopituitarism, X-Linked|Septo-Optic Dysplasia Spectrum|46,Xx Testicular Difference Of Sex Development|X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency|Non-Acquired Panhypopituitarism|X-Linked Congenital Generalized Hypertrichosis	no	no	no	no	NA
SOX30	HGNC:30635	MGI:1341157	-	-	yes	no	no	no	NA
SOX4	HGNC:11200	MGI:98366	OMIM:618506|ORPHA:1465	Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies|Coffin-Siris Syndrome	yes	yes	yes	yes	28.89
SOX5	HGNC:11201	MGI:98367	OMIM:616803|ORPHA:313892|ORPHA:313884	Lamb-Shaffer Syndrome|Developmental And Speech Delay Due To Sox5 Deficiency|12P12.1 Microdeletion Syndrome	no	no	no	no	NA
SOX6	HGNC:16421	MGI:98368	OMIM:618971	Tolchin-Le Caignec Syndrome	no	no	no	no	NA
SOX7	HGNC:18196	MGI:98369	-	-	no	no	no	no	NA
SOX8	HGNC:11203	MGI:98370	-	-	no	no	no	no	NA
SOX9	HGNC:11204	MGI:98371	OMIM:114290|ORPHA:718|ORPHA:140|ORPHA:242|ORPHA:2138|ORPHA:251510|ORPHA:393	Campomelic Dysplasia|Isolated Pierre Robin Syndrome|46,Xy Complete Gonadal Dysgenesis|46,Xx Ovotesticular Difference Of Sex Development|46,Xy Partial Gonadal Dysgenesis|46,Xx Testicular Difference Of Sex Development	no	no	no	no	NA
SP1	HGNC:11205	MGI:98372	-	-	no	no	no	no	NA
SP100	HGNC:11206	MGI:109561	-	-	no	no	no	no	NA
SP110	HGNC:5401	MGI:1923364	OMIM:235550|OMIM:607948|ORPHA:79124	Hepatic Venoocclusive Disease With Immunodeficiency|Mycobacterium Tuberculosis, Susceptibility To|Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	no	no	no	no	NA
SP2	HGNC:11207	MGI:1926162	-	-	no	no	no	no	NA
SP3	HGNC:11208	MGI:1277166	-	-	no	no	no	no	NA
SP4	HGNC:11209	MGI:107595	-	-	no	no	no	no	NA
SP5	HGNC:14529	MGI:1927715	-	-	yes	no	no	no	NA
SP6	HGNC:14530	MGI:1932575	OMIM:620104	Amelogenesis Imperfecta, Type Ik	no	no	no	no	NA
SP7	HGNC:17321	MGI:2153568	OMIM:613849|ORPHA:1513|ORPHA:216820	Osteogenesis Imperfecta, Type Xii|Craniodiaphyseal Dysplasia|Osteogenesis Imperfecta Type 4	no	no	no	no	NA
SP8	HGNC:19196	MGI:2443471	-	-	no	no	no	no	NA
SP9	HGNC:30690	MGI:3574660	-	-	no	no	no	no	NA
SPA17	HGNC:11210	MGI:1333778	-	-	yes	no	no	no	NA
SPAAR	HGNC:27244	MGI:1918656	-	-	no	no	no	no	NA
SPACA1	HGNC:14967	MGI:1914902	OMIM:620490	Spermatogenic Failure 85	no	no	no	no	NA
SPACA3	HGNC:16260	MGI:1922872	-	-	no	no	no	no	NA
SPACA4	HGNC:16441	MGI:1916613	-	-	no	no	no	no	NA
SPACA6	HGNC:27113	MGI:1922452	-	-	no	no	no	no	NA
SPACA7	HGNC:29575	MGI:1925884	-	-	no	no	no	no	NA
SPACA9	HGNC:1367	MGI:1917237	-	-	yes	no	no	no	NA
SPAG1	HGNC:11212	MGI:1349387	OMIM:615505|ORPHA:244	Ciliary Dyskinesia, Primary, 28|Primary Ciliary Dyskinesia	no	no	no	no	NA
SPAG11B	HGNC:14534	MGI:3647173	-	-	no	no	no	no	NA
SPAG16	HGNC:23225	MGI:1913972	-	-	no	no	no	no	NA
SPAG17	HGNC:26620	MGI:1921612	OMIM:619380|ORPHA:276234|ORPHA:399805	Spermatogenic Failure 55|Non-Syndromic Male Infertility Due To Sperm Motility Disorder|Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	yes	yes	yes	yes	76.405
SPAG4	HGNC:11214	MGI:2444120	-	-	yes	no	no	no	NA
SPAG5	HGNC:13452	MGI:1927470	-	-	no	no	no	no	NA
SPAG7	HGNC:11216	MGI:107380	-	-	no	no	no	no	NA
SPAG8	HGNC:14105	MGI:3056295	-	-	no	no	no	no	NA
SPAG9	HGNC:14524	MGI:1918084	-	-	no	no	no	no	NA
SPARC	HGNC:11219	MGI:98373	OMIM:616507|ORPHA:216820	Osteogenesis Imperfecta, Type Xvii|Osteogenesis Imperfecta Type 4	yes	yes	yes	yes	49.945
SPARCL1	HGNC:11220	MGI:108110	-	-	yes	no	no	no	NA
SPART	HGNC:18514	MGI:2139806	OMIM:275900|ORPHA:101000	Spastic Paraplegia 20, Autosomal Recessive|Autosomal Recessive Spastic Paraplegia Type 20	yes	yes	yes	yes	30.55
SPAST	HGNC:11233	MGI:1858896	OMIM:182601|ORPHA:100985	Spastic Paraplegia 4, Autosomal Dominant|Autosomal Dominant Spastic Paraplegia Type 4	yes	yes	yes	no	NA
SPATA1	HGNC:14682	MGI:1918201	-	-	no	no	no	no	NA
SPATA13	HGNC:23222	MGI:104838	-	-	yes	no	no	no	NA
SPATA16	HGNC:29935	MGI:1918112	OMIM:102530|ORPHA:171709	Spermatogenic Failure 6|Male Infertility Due To Globozoospermia	yes	yes	yes	yes	60.83
SPATA17	HGNC:25184	MGI:1921967	-	-	no	no	no	no	NA
SPATA18	HGNC:29579	MGI:1920722	-	-	no	no	no	no	NA
SPATA19	HGNC:30614	MGI:1922719	-	-	no	no	no	no	NA
SPATA2	HGNC:14681	MGI:2146885	-	-	yes	no	no	no	NA
SPATA20	HGNC:26125	MGI:2183449	-	-	no	no	no	no	NA
SPATA21	HGNC:28026	MGI:3607787	-	-	yes	no	no	no	NA
SPATA22	HGNC:30705	MGI:2685728	-	-	yes	no	no	no	NA
SPATA24	HGNC:27322	MGI:1918492	-	-	yes	no	no	no	NA
SPATA25	HGNC:16158	MGI:1922892	-	-	yes	no	no	no	NA
SPATA2L	HGNC:28393	MGI:1926029	-	-	no	no	no	no	NA
SPATA3	HGNC:17884	MGI:1917310	-	-	yes	no	no	no	NA
SPATA31F3	HGNC:42673	MGI:2679716	-	-	yes	no	no	no	NA
SPATA31G1	HGNC:31418	MGI:1914567	-	-	no	no	no	no	NA
SPATA31H1	HGNC:25275	MGI:3045298	-	-	no	no	no	no	NA
SPATA32	HGNC:26349	MGI:3045340	-	-	yes	no	no	no	NA
SPATA33	HGNC:26463	MGI:2444920	-	-	no	no	no	no	NA
SPATA4	HGNC:17333	MGI:1916531	-	-	no	no	no	no	NA
SPATA45	HGNC:33709	MGI:1922808	-	-	no	no	no	no	NA
SPATA46	HGNC:27648	MGI:1924175	-	-	yes	no	no	no	NA
SPATA6	HGNC:18309	MGI:1915196	-	-	yes	no	no	no	NA
SPATA6L	HGNC:25472	MGI:1918036	-	-	no	no	no	no	NA
SPATA7	HGNC:20423	MGI:2144877	OMIM:604232|ORPHA:791|ORPHA:65|ORPHA:364055	Leber Congenital Amaurosis 3|Retinitis Pigmentosa|Leber Congenital Amaurosis|Severe Early-Childhood-Onset Retinal Dystrophy	yes	yes	yes	yes	46.755
SPATA9	HGNC:22988	MGI:1922821	-	-	no	no	no	no	NA
SPATC1	HGNC:30510	MGI:1921531	-	-	yes	no	no	no	NA
SPATC1L	HGNC:1298	MGI:1923823	-	-	yes	no	no	no	NA
SPATS1	HGNC:22957	MGI:1918270	-	-	yes	no	no	no	NA
SPATS2	HGNC:18650	MGI:1919822	-	-	yes	no	no	no	NA
SPATS2L	HGNC:24574	MGI:1914448	-	-	no	no	no	no	NA
SPC24	HGNC:26913	MGI:1914879	-	-	no	no	no	no	NA
SPC25	HGNC:24031	MGI:1913692	-	-	yes	no	no	no	NA
SPCS1	HGNC:23401	MGI:1916269	-	-	no	no	no	no	NA
SPCS2	HGNC:28962	MGI:1913874	-	-	no	no	no	no	NA
SPCS3	HGNC:26212	MGI:1923937	-	-	no	no	no	no	NA
SPDEF	HGNC:17257	MGI:1353422	-	-	no	no	no	no	NA
SPDL1	HGNC:26010	MGI:1917635	-	-	no	no	no	no	NA
SPDYA	HGNC:30613	MGI:1918141	-	-	no	no	no	no	NA
SPECC1	HGNC:30615	MGI:2442356	-	-	yes	no	no	no	NA
SPECC1L	HGNC:29022	MGI:1921642	OMIM:600251|OMIM:145420|ORPHA:141258|ORPHA:141276|ORPHA:1519	Facial Clefting, Oblique, 1|Teebi Hypertelorism Syndrome 1|Tessier Number 4 Facial Cleft|Tessier Number 7 Facial Cleft|Specc1L-Related Hypertelorism Syndrome	yes	yes	yes	no	NA
SPEF1	HGNC:15874	MGI:3513546	-	-	yes	no	no	no	NA
SPEF2	HGNC:26293	MGI:2443727	OMIM:618751|ORPHA:244|ORPHA:276234	Spermatogenic Failure 43|Primary Ciliary Dyskinesia|Non-Syndromic Male Infertility Due To Sperm Motility Disorder	no	no	no	no	NA
SPEG	HGNC:16901	MGI:109282	OMIM:615959|ORPHA:169186	Myopathy, Centronuclear, 5|Autosomal Recessive Centronuclear Myopathy	yes	yes	yes	no	NA
SPEM1	HGNC:32429	MGI:1921538	-	-	no	no	no	no	NA
SPEM2	HGNC:27315	MGI:1918293	-	-	no	no	no	no	NA
SPEM3	HGNC:53651	MGI:5622451	-	-	no	no	no	no	NA
SPEN	HGNC:17575	MGI:1891706	OMIM:619312|ORPHA:1606	Radio-Tartaglia Syndrome|1P36 Deletion Syndrome	no	no	no	no	NA
SPESP1	HGNC:15570	MGI:1913962	-	-	no	no	no	no	NA
SPG11	HGNC:11226	MGI:2444989	OMIM:602099|OMIM:616668|OMIM:604360|ORPHA:2822|ORPHA:300605|ORPHA:466775	Amyotrophic Lateral Sclerosis 5, Juvenile|Charcot-Marie-Tooth Disease, Axonal, Type 2X|Spastic Paraplegia 11, Autosomal Recessive|Autosomal Recessive Spastic Paraplegia Type 11|Juvenile Amyotrophic Lateral Sclerosis|Autosomal Recessive Charcot-Marie-Tooth Disease Type 2X	yes	yes	yes	yes	34.565
SPG21	HGNC:20373	MGI:106403	OMIM:248900|ORPHA:101001	Mast Syndrome|Autosomal Recessive Spastic Paraplegia Type 21	no	no	no	no	NA
SPG7	HGNC:11237	MGI:2385906	OMIM:607259|ORPHA:35689|ORPHA:99013	Spastic Paraplegia 7, Autosomal Recessive|Primary Lateral Sclerosis|Spastic Paraplegia Type 7	no	no	no	no	NA
SPHK1	HGNC:11240	MGI:1316649	-	-	yes	no	no	no	NA
SPHK2	HGNC:18859	MGI:1861380	-	-	no	no	no	no	NA
SPHKAP	HGNC:30619	MGI:1924879	-	-	no	no	no	no	NA
SPI1	HGNC:11241	MGI:98282	OMIM:619707|ORPHA:33110	Agammaglobulinemia 10, Autosomal Dominant|Autosomal Agammaglobulinemia	yes	yes	yes	yes	27.36
SPIB	HGNC:11242	MGI:892986	ORPHA:186	Primary Biliary Cholangitis	no	no	no	no	NA
SPIC	HGNC:29549	MGI:1341168	-	-	no	no	no	no	NA
SPICE1	HGNC:25083	MGI:1196252	-	-	yes	no	no	no	NA
SPIDR	HGNC:28971	MGI:1924834	OMIM:619665|ORPHA:243	Ovarian Dysgenesis 9|46,Xx Gonadal Dysgenesis	yes	yes	yes	yes	47.54
SPIN1	HGNC:11243	MGI:109242	-	-	yes	no	no	no	NA
SPIN4	HGNC:27040	MGI:2444925	-	-	no	no	no	no	NA
SPINDOC	HGNC:25115	MGI:2147611	-	-	no	no	no	no	NA
SPINK1	HGNC:11244	MGI:106202	OMIM:167800|OMIM:608189|ORPHA:676|ORPHA:64740|ORPHA:103918	Pancreatitis, Hereditary|Tropical Calcific Pancreatitis|Hereditary Chronic Pancreatitis|Non Rare In Europe: Recurrent Acute Pancreatitis|Tropical Pancreatitis	no	no	no	no	NA
SPINK13	HGNC:27200	MGI:3642511	-	-	yes	no	no	no	NA
SPINK14	HGNC:33825	MGI:3646952	-	-	yes	no	no	no	NA
SPINK2	HGNC:11245	MGI:1917232	OMIM:618091	Spermatogenic Failure 29	yes	yes	yes	yes	70.85
SPINK4	HGNC:16646	MGI:1341848	-	-	no	no	no	no	NA
SPINK5	HGNC:15464	MGI:1919682	OMIM:256500|ORPHA:634	Netherton Syndrome	yes	yes	yes	no	NA
SPINK6	HGNC:29486	MGI:3648654	-	-	yes	no	no	no	NA
SPINK7	HGNC:24643	MGI:3644691	-	-	no	no	no	no	NA
SPINK8	HGNC:33160	MGI:1925959	-	-	no	no	no	no	NA
SPINT1	HGNC:11246	MGI:1338033	-	-	yes	no	no	no	NA
SPINT2	HGNC:11247	MGI:1338031	OMIM:270420|ORPHA:563708	Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies|Syndromic Congenital Sodium Diarrhea	no	no	no	no	NA
SPINT3	HGNC:11248	MGI:3651470	-	-	no	no	no	no	NA
SPINT4	HGNC:16130	MGI:1925489	-	-	no	no	no	no	NA
SPIRE1	HGNC:30622	MGI:1915416	-	-	no	no	no	no	NA
SPIRE2	HGNC:30623	MGI:2446256	-	-	yes	no	no	no	NA
SPMAP1	HGNC:34492	MGI:1919465	-	-	no	no	no	no	NA
SPMAP2	HGNC:13706	MGI:1338756	-	-	yes	no	no	no	NA
SPMAP2L	HGNC:43771	MGI:1919118	-	-	yes	no	no	no	NA
SPMIP1	HGNC:52392	MGI:3644212	-	-	no	no	no	no	NA
SPMIP10	HGNC:33767	MGI:1914593	-	-	no	no	no	no	NA
SPMIP11	HGNC:48628	MGI:1921113	-	-	no	no	no	no	NA
SPMIP2	HGNC:26342	MGI:4936993	-	-	yes	no	no	no	NA
SPMIP3	HGNC:30435	MGI:1916678	-	-	yes	no	no	no	NA
SPMIP4	HGNC:21722	MGI:1918071	-	-	no	no	no	no	NA
SPMIP5	HGNC:28500	MGI:1914757	-	-	no	no	no	no	NA
SPMIP6	HGNC:19919	MGI:1920971	-	-	yes	no	no	no	NA
SPMIP7	HGNC:22564	MGI:1921112	-	-	no	no	no	no	NA
SPMIP8	HGNC:33745	MGI:1920657	-	-	no	no	no	no	NA
SPMIP9	HGNC:26341	MGI:1921471	-	-	yes	no	no	no	NA
SPN	HGNC:11249	MGI:98384	-	-	yes	no	no	no	NA
SPNS1	HGNC:30621	MGI:1920908	-	-	yes	no	no	no	NA
SPNS2	HGNC:26992	MGI:2384936	OMIM:618457	Deafness, Autosomal Recessive 115	yes	yes	yes	no	NA
SPNS3	HGNC:28433	MGI:1924827	-	-	yes	no	no	no	NA
SPO11	HGNC:11250	MGI:1349669	-	-	yes	no	no	no	NA
SPOCD1	HGNC:26338	MGI:3652045	-	-	no	no	no	no	NA
SPOCK1	HGNC:11251	MGI:105371	-	-	yes	no	no	no	NA
SPOCK2	HGNC:13564	MGI:1891351	-	-	no	no	no	no	NA
SPOCK3	HGNC:13565	MGI:1920152	-	-	no	no	no	no	NA
SPON1	HGNC:11252	MGI:2385287	-	-	no	no	no	no	NA
SPON2	HGNC:11253	MGI:1923724	-	-	no	no	no	no	NA
SPOP	HGNC:11254	MGI:1343085	OMIM:618828|OMIM:618829	Nabais Sa-De Vries Syndrome, Type 1|Nabais Sa-De Vries Syndrome, Type 2	yes	yes	yes	yes	27.545
SPOPL	HGNC:27934	MGI:1924107	-	-	yes	no	no	no	NA
SPOUT1	HGNC:26933	MGI:106544	-	-	no	no	no	no	NA
SPP1	HGNC:11255	MGI:98389	ORPHA:536|ORPHA:93552	Systemic Lupus Erythematosus|Pediatric Systemic Lupus Erythematosus	yes	yes	yes	yes	16.705
SPP2	HGNC:11256	MGI:1922646	-	-	no	no	no	no	NA
SPPL2A	HGNC:30227	MGI:1913802	OMIM:619549	Immunodeficiency 86	no	no	no	no	NA
SPPL2B	HGNC:30627	MGI:1920468	-	-	no	no	no	no	NA
SPPL2C	HGNC:28902	MGI:3045264	-	-	no	no	no	no	NA
SPPL3	HGNC:30424	MGI:1891433	-	-	yes	no	no	no	NA
SPR	HGNC:11257	MGI:103078	OMIM:612716|ORPHA:70594	Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency|Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	yes	yes	yes	no	NA
SPRED1	HGNC:20249	MGI:2150016	OMIM:611431|ORPHA:137605	Legius Syndrome	yes	yes	yes	yes	46.36
SPRED2	HGNC:17722	MGI:2150019	OMIM:619745|ORPHA:648	Noonan Syndrome 14|Noonan Syndrome	yes	yes	yes	yes	38.15
SPRED3	HGNC:31041	MGI:2142186	-	-	yes	no	no	no	NA
SPRING1	HGNC:26128	MGI:1924042	-	-	no	no	no	no	NA
SPRN	HGNC:16871	MGI:3582583	-	-	no	no	no	no	NA
SPRR1A	HGNC:11259	MGI:106660	-	-	yes	no	no	no	NA
SPRR1B	HGNC:11260	MGI:106659	-	-	yes	no	no	no	NA
SPRR3	HGNC:11268	MGI:1330237	-	-	yes	no	no	no	NA
SPRR4	HGNC:23173	MGI:2654508	-	-	no	no	no	no	NA
SPRTN	HGNC:25356	MGI:2685351	OMIM:616200|ORPHA:435953	Ruijs-Aalfs Syndrome|Progeroid Features-Hepatocellular Carcinoma Predisposition Syndrome	no	no	no	no	NA
SPRY1	HGNC:11269	MGI:1345139	-	-	no	no	no	no	NA
SPRY2	HGNC:11270	MGI:1345138	OMIM:616818	Iga Nephropathy, Susceptibility To, 3	no	no	no	no	NA
SPRY4	HGNC:15533	MGI:1345144	OMIM:615266|ORPHA:478|ORPHA:363494|ORPHA:432	Hypogonadotropic Hypogonadism 17 With Or Without Anosmia|Kallmann Syndrome|Non-Seminomatous Germ Cell Tumor Of Testis|Normosmic Congenital Hypogonadotropic Hypogonadism	yes	yes	yes	yes	29.455
SPRYD3	HGNC:25920	MGI:2446175	-	-	yes	no	no	no	NA
SPRYD4	HGNC:27468	MGI:1913951	-	-	yes	no	no	no	NA
SPRYD7	HGNC:14297	MGI:1913924	-	-	no	no	no	no	NA
SPSB1	HGNC:30628	MGI:1921896	-	-	no	no	no	no	NA
SPSB2	HGNC:29522	MGI:1315199	-	-	no	no	no	no	NA
SPSB3	HGNC:30629	MGI:1891471	-	-	no	no	no	no	NA
SPSB4	HGNC:30630	MGI:2183445	-	-	no	no	no	no	NA
SPTA1	HGNC:11272	MGI:98385	OMIM:130600|OMIM:266140|OMIM:270970|ORPHA:822|ORPHA:288	Elliptocytosis 2|Pyropoikilocytosis, Hereditary|Spherocytosis, Type 3|Hereditary Spherocytosis|Hereditary Elliptocytosis	yes	yes	yes	no	NA
SPTAN1	HGNC:11273	MGI:98386	OMIM:613477|OMIM:620540|OMIM:620528|OMIM:620538|ORPHA:3451	Developmental And Epileptic Encephalopathy 5|Developmental Delay With Or Without Epilepsy|Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 11|Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia|Infantile Spasms Syndrome	yes	yes	yes	yes	43.88
SPTB	HGNC:11274	MGI:98387	OMIM:617948|OMIM:616649|ORPHA:822|ORPHA:288	Elliptocytosis 3|Spherocytosis, Type 2|Hereditary Spherocytosis|Hereditary Elliptocytosis	yes	yes	yes	yes	57.125
SPTBN1	HGNC:11275	MGI:98388	OMIM:619475|ORPHA:528084	Developmental Delay, Impaired Speech, And Behavioral Abnormalities|Non-Specific Syndromic Intellectual Disability	yes	yes	yes	yes	28.855
SPTBN2	HGNC:11276	MGI:1313261	OMIM:600224|OMIM:615386|ORPHA:352403|ORPHA:98766	Spinocerebellar Ataxia 5|Spinocerebellar Ataxia, Autosomal Recessive 14|Spectrin-Associated Autosomal Recessive Cerebellar Ataxia|Spinocerebellar Ataxia Type 5	yes	yes	yes	yes	14.94
SPTBN4	HGNC:14896	MGI:1890574	OMIM:617519	Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	no	no	no	no	NA
SPTBN5	HGNC:15680	MGI:2685200	-	-	no	no	no	no	NA
SPTLC1	HGNC:11277	MGI:1099431	OMIM:620285|OMIM:162400|ORPHA:300605|ORPHA:36386	Amyotrophic Lateral Sclerosis 27, Juvenile|Neuropathy, Hereditary Sensory And Autonomic, Type Ia|Juvenile Amyotrophic Lateral Sclerosis|Hereditary Sensory And Autonomic Neuropathy Type 1	yes	yes	yes	yes	30.685
SPTLC2	HGNC:11278	MGI:108074	OMIM:613640|ORPHA:36386	Neuropathy, Hereditary Sensory And Autonomic, Type Ic|Hereditary Sensory And Autonomic Neuropathy Type 1	yes	yes	yes	no	NA
SPTLC3	HGNC:16253	MGI:2444678	-	-	yes	no	no	no	NA
SPTSSA	HGNC:20361	MGI:1913399	OMIM:620417|OMIM:620416	Spastic Paraplegia 90B, Autosomal Recessive|Spastic Paraplegia 90A, Autosomal Dominant	yes	yes	no	no	NA
SPTSSB	HGNC:24045	MGI:1913433	-	-	yes	no	no	no	NA
SPTY2D1	HGNC:26818	MGI:2142062	-	-	yes	no	no	no	NA
SPX	HGNC:28139	MGI:2442262	-	-	yes	no	no	no	NA
SPZ1	HGNC:30721	MGI:1930801	-	-	yes	no	no	no	NA
SQLE	HGNC:11279	MGI:109296	-	-	yes	no	no	no	NA
SQOR	HGNC:20390	MGI:1929899	OMIM:619221	Sulfide:Quinone Oxidoreductase Deficiency	yes	no	yes	no	NA
SQSTM1	HGNC:11280	MGI:107931	OMIM:616437|OMIM:617158|OMIM:617145|OMIM:167250|ORPHA:803|ORPHA:275872|ORPHA:275864|ORPHA:280110|ORPHA:603	Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3|Myopathy, Distal, With Rimmed Vacuoles|Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset|Paget Disease Of Bone 3|Amyotrophic Lateral Sclerosis|Frontotemporal Dementia With Motor Neuron Disease|Behavioral Variant Of Frontotemporal Dementia|Non Rare In Europe: Paget Disease Of Bone|Distal Myopathy, Welander Type	yes	yes	yes	yes	46.13
SRA1	HGNC:11281	MGI:1344414	-	-	yes	no	no	no	NA
SRARP	HGNC:28339	MGI:2685540	-	-	no	no	no	no	NA
SRBD1	HGNC:25521	MGI:1925836	-	-	yes	no	no	no	NA
SRC	HGNC:11283	MGI:98397	OMIM:616937|OMIM:114500|ORPHA:480851	Thrombocytopenia 6|Colorectal Cancer|Hereditary Thrombocytopenia With Early-Onset Myelofibrosis	yes	yes	yes	yes	23.535
SRCAP	HGNC:16974	MGI:2444036	OMIM:619595|OMIM:136140|ORPHA:2044|ORPHA:528084	Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities|Floating-Harbor Syndrome|Non-Specific Syndromic Intellectual Disability	yes	yes	yes	yes	30.08
SRCIN1	HGNC:29506	MGI:1933179	-	-	yes	no	no	no	NA
SRD5A1	HGNC:11284	MGI:98400	-	-	no	no	no	no	NA
SRD5A2	HGNC:11285	MGI:2150380	OMIM:264600|ORPHA:753|ORPHA:1331	Pseudovaginal Perineoscrotal Hypospadias|46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency|Familial Prostate Cancer	yes	yes	yes	no	NA
SRD5A3	HGNC:25812	MGI:1930252	OMIM:612379|OMIM:612713|ORPHA:324737	Congenital Disorder Of Glycosylation, Type Iq|Kahrizi Syndrome|Srd5A3-Cdg	yes	yes	yes	yes	21.675
SREBF1	HGNC:11289	MGI:107606	OMIM:619016|OMIM:158310|ORPHA:388	Ifap Syndrome 2|Mucoepithelial Dysplasia, Hereditary|Hirschsprung Disease	no	no	no	no	NA
SREBF2	HGNC:11290	MGI:107585	-	-	yes	no	no	no	NA
SREK1	HGNC:17882	MGI:2145245	-	-	yes	no	no	no	NA
SREK1IP1	HGNC:26716	MGI:1914538	-	-	no	no	no	no	NA
SRF	HGNC:11291	MGI:106658	-	-	no	no	no	no	NA
SRFBP1	HGNC:26333	MGI:1914472	-	-	no	no	no	no	NA
SRGAP1	HGNC:17382	MGI:2152936	OMIM:188470	Thyroid Cancer, Nonmedullary, 2	no	no	no	no	NA
SRGAP2	HGNC:19751	MGI:109605	-	-	yes	no	no	no	NA
SRGAP3	HGNC:19744	MGI:2152938	ORPHA:251615	Pilomyxoid Astrocytoma	no	no	no	no	NA
SRGN	HGNC:9361	MGI:97756	-	-	no	no	no	no	NA
SRI	HGNC:11292	MGI:98419	-	-	no	no	no	no	NA
SRL	HGNC:11295	MGI:2146620	-	-	no	no	no	no	NA
SRM	HGNC:11296	MGI:102690	-	-	no	no	no	no	NA
SRMS	HGNC:11298	MGI:101865	-	-	no	no	no	no	NA
SRP14	HGNC:11299	MGI:107169	-	-	no	no	no	no	NA
SRP19	HGNC:11300	MGI:1913634	ORPHA:486	Autosomal Dominant Severe Congenital Neutropenia	no	no	no	no	NA
SRP68	HGNC:11302	MGI:1917447	OMIM:620534	Neutropenia, Severe Congenital, 10, Autosomal Recessive	no	no	no	no	NA
SRP72	HGNC:11303	MGI:1333795	OMIM:614675|ORPHA:314399	Bone Marrow Failure Syndrome 1|Autosomal Dominant Aplasia And Myelodysplasia	yes	yes	yes	no	NA
SRP9	HGNC:11304	MGI:1350930	-	-	yes	no	no	no	NA
SRPK1	HGNC:11305	MGI:106908	-	-	no	no	no	no	NA
SRPK2	HGNC:11306	MGI:1201408	-	-	no	no	no	no	NA
SRPK3	HGNC:11402	MGI:1891338	-	-	yes	no	no	no	NA
SRPRA	HGNC:11307	MGI:1914648	-	-	no	no	no	no	NA
SRPRB	HGNC:24085	MGI:102964	-	-	yes	no	no	no	NA
SRPX	HGNC:11309	MGI:1858306	-	-	no	no	no	no	NA
SRPX2	HGNC:30668	MGI:1916042	OMIM:300643|ORPHA:163721|ORPHA:1945|ORPHA:98889	Rolandic Epilepsy, Impaired Intellectual Development, And Speech Dyspraxia, X-Linked|Rolandic Epilepsy-Speech Dyspraxia Syndrome|Rolandic Epilepsy|Bilateral Perisylvian Polymicrogyria	yes	yes	yes	no	NA
SRR	HGNC:14398	MGI:1351636	-	-	yes	no	no	no	NA
SRRD	HGNC:33910	MGI:1917368	-	-	no	no	no	no	NA
SRRM1	HGNC:16638	MGI:1858303	-	-	no	no	no	no	NA
SRRM2	HGNC:16639	MGI:1923206	OMIM:620439	Intellectual Developmental Disorder, Autosomal Dominant 72	yes	yes	yes	no	NA
SRRM3	HGNC:26729	MGI:1920309	-	-	no	no	no	no	NA
SRRM4	HGNC:29389	MGI:1916205	-	-	yes	no	no	no	NA
SRRT	HGNC:24101	MGI:1933527	-	-	no	no	no	no	NA
SRSF1	HGNC:10780	MGI:98283	OMIM:620489	Neurodevelopmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	no	no	no	no	NA
SRSF10	HGNC:16713	MGI:1333805	-	-	no	no	no	no	NA
SRSF11	HGNC:10782	MGI:1916457	-	-	yes	no	no	no	NA
SRSF12	HGNC:21220	MGI:2661424	-	-	no	no	no	no	NA
SRSF2	HGNC:10783	MGI:98284	ORPHA:98823|ORPHA:98850|ORPHA:98849	Chronic Myelomonocytic Leukemia|Aggressive Systemic Mastocytosis|Systemic Mastocytosis With Associated Hematologic Neoplasm	no	no	no	no	NA
SRSF3	HGNC:10785	MGI:98285	-	-	no	no	no	no	NA
SRSF4	HGNC:10786	MGI:1890577	-	-	yes	no	no	no	NA
SRSF5	HGNC:10787	MGI:98287	-	-	yes	no	no	no	NA
SRSF6	HGNC:10788	MGI:1915246	-	-	yes	no	no	no	NA
SRSF7	HGNC:10789	MGI:1926232	-	-	yes	no	no	no	NA
SRSF9	HGNC:10791	MGI:104896	-	-	yes	no	no	no	NA
SRXN1	HGNC:16132	MGI:104971	-	-	no	no	no	no	NA
SRY	HGNC:11311	MGI:98660	OMIM:400045|OMIM:400044|ORPHA:242|ORPHA:1772|ORPHA:2138|ORPHA:251510|ORPHA:393	46,Xx Sex Reversal 1|46,Xy Sex Reversal 1|46,Xy Complete Gonadal Dysgenesis|45,X/46,Xy Mixed Gonadal Dysgenesis|46,Xx Ovotesticular Difference Of Sex Development|46,Xy Partial Gonadal Dysgenesis|46,Xx Testicular Difference Of Sex Development	no	no	no	no	NA
SS18	HGNC:11340	MGI:107708	ORPHA:3273	Synovial Sarcoma	yes	yes	no	no	NA
SS18L1	HGNC:15592	MGI:2444061	-	-	no	no	no	no	NA
SS18L2	HGNC:15593	MGI:1349474	-	-	no	no	no	no	NA
SSB	HGNC:11316	MGI:98423	-	-	no	no	no	no	NA
SSBP1	HGNC:11317	MGI:1920040	OMIM:165510|ORPHA:90635	Optic Atrophy 13 With Retinal And Foveal Abnormalities|Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	yes	yes	yes	no	NA
SSBP2	HGNC:15831	MGI:1914220	-	-	yes	no	no	no	NA
SSBP3	HGNC:15674	MGI:1919725	-	-	no	no	no	no	NA
SSBP4	HGNC:15676	MGI:1924150	-	-	no	no	no	no	NA
SSC4D	HGNC:14461	MGI:1924709	-	-	yes	no	no	no	NA
SSC5D	HGNC:26641	MGI:3606211	-	-	yes	no	no	no	NA
SSH1	HGNC:30579	MGI:2686240	-	-	yes	no	no	no	NA
SSH2	HGNC:30580	MGI:2679255	-	-	yes	no	no	no	NA
SSH3	HGNC:30581	MGI:2683546	-	-	no	no	no	no	NA
SSMEM1	HGNC:29580	MGI:1922897	-	-	no	no	no	no	NA
SSNA1	HGNC:11321	MGI:1915725	-	-	no	no	no	no	NA
SSPN	HGNC:11322	MGI:1353511	-	-	yes	no	no	no	NA
SSR1	HGNC:11323	MGI:105082	-	-	yes	no	no	no	NA
SSR2	HGNC:11324	MGI:1913506	-	-	yes	no	no	no	NA
SSR3	HGNC:11325	MGI:1914687	-	-	no	no	no	no	NA
SSR4	HGNC:11326	MGI:1099464	OMIM:300934|ORPHA:370927	Congenital Disorder Of Glycosylation, Type Iy|Ssr4-Cdg	no	no	no	no	NA
SSRP1	HGNC:11327	MGI:107912	-	-	no	no	no	no	NA
SST	HGNC:11329	MGI:98326	-	-	yes	no	no	no	NA
SSTR1	HGNC:11330	MGI:98327	-	-	yes	no	no	no	NA
SSTR2	HGNC:11331	MGI:98328	-	-	yes	no	no	no	NA
SSTR3	HGNC:11332	MGI:98329	-	-	no	no	no	no	NA
SSTR4	HGNC:11333	MGI:105372	-	-	yes	no	no	no	NA
SSTR5	HGNC:11334	MGI:894282	-	-	yes	no	no	no	NA
SSU72	HGNC:25016	MGI:1916241	-	-	yes	no	no	no	NA
SSUH2	HGNC:24809	MGI:2443733	ORPHA:99789	Dentin Dysplasia Type I	no	no	no	no	NA
SSX2IP	HGNC:16509	MGI:2139150	-	-	yes	no	no	no	NA
ST13	HGNC:11343	MGI:1917606	-	-	yes	no	no	no	NA
ST14	HGNC:11344	MGI:1338881	OMIM:602400|ORPHA:91132	Ichthyosis, Congenital, Autosomal Recessive 11|Ichthyosis-Hypotrichosis Syndrome	yes	yes	yes	no	NA
ST18	HGNC:18695	MGI:2446700	-	-	yes	no	no	no	NA
ST3GAL1	HGNC:10862	MGI:98304	-	-	no	no	no	no	NA
ST3GAL2	HGNC:10863	MGI:99427	-	-	no	no	no	no	NA
ST3GAL3	HGNC:10866	MGI:1316659	OMIM:615006|OMIM:611090|ORPHA:3451|ORPHA:88616	Developmental And Epileptic Encephalopathy 15|Intellectual Developmental Disorder, Autosomal Recessive 12|Infantile Spasms Syndrome|Autosomal Recessive Non-Syndromic Intellectual Disability	no	no	no	no	NA
ST3GAL4	HGNC:10864	MGI:1316743	-	-	no	no	no	no	NA
ST3GAL5	HGNC:10872	MGI:1339963	OMIM:609056|ORPHA:370933	Salt And Pepper Developmental Regression Syndrome|Gm3 Synthase Deficiency	no	no	no	no	NA
ST3GAL6	HGNC:18080	MGI:1888707	-	-	no	no	no	no	NA
ST6GAL1	HGNC:10860	MGI:108470	-	-	no	no	no	no	NA
ST6GAL2	HGNC:10861	MGI:2445190	-	-	yes	no	no	no	NA
ST6GALNAC1	HGNC:23614	MGI:1341826	-	-	no	no	no	no	NA
ST6GALNAC2	HGNC:10867	MGI:107553	-	-	no	no	no	no	NA
ST6GALNAC3	HGNC:19343	MGI:1341828	-	-	yes	no	no	no	NA
ST6GALNAC4	HGNC:17846	MGI:1341894	-	-	no	no	no	no	NA
ST6GALNAC5	HGNC:19342	MGI:1349471	-	-	no	no	no	no	NA
ST6GALNAC6	HGNC:23364	MGI:1355316	-	-	no	no	no	no	NA
ST7	HGNC:11351	MGI:1927450	-	-	yes	no	no	no	NA
ST7L	HGNC:18441	MGI:2386964	-	-	no	no	no	no	NA
ST8SIA1	HGNC:10869	MGI:106011	-	-	no	no	no	no	NA
ST8SIA2	HGNC:10870	MGI:106020	-	-	no	no	no	no	NA
ST8SIA3	HGNC:14269	MGI:106019	-	-	no	no	no	no	NA
ST8SIA4	HGNC:10871	MGI:106018	-	-	no	no	no	no	NA
ST8SIA5	HGNC:17827	MGI:109243	-	-	no	no	no	no	NA
ST8SIA6	HGNC:23317	MGI:2386797	-	-	yes	no	no	no	NA
STAB1	HGNC:18628	MGI:2178742	-	-	no	no	no	no	NA
STAB2	HGNC:18629	MGI:2178743	-	-	no	no	no	no	NA
STAC	HGNC:11353	MGI:1201400	-	-	yes	no	no	no	NA
STAC2	HGNC:23990	MGI:2144518	-	-	yes	no	no	no	NA
STAC3	HGNC:28423	MGI:3606571	OMIM:255995|ORPHA:168572	Congenital Myopathy 13|Native American Myopathy	no	no	no	no	NA
STAG1	HGNC:11354	MGI:1098658	OMIM:617635|ORPHA:502434	Intellectual Developmental Disorder, Autosomal Dominant 47|Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome	yes	yes	yes	yes	35.8
STAG2	HGNC:11355	MGI:1098583	OMIM:301043|OMIM:301022|ORPHA:220386|ORPHA:521258|ORPHA:93925	Holoprosencephaly 13, X-Linked|Mullegama-Klein-Martinez Syndrome|Semilobar Holoprosencephaly|Xq25 Microduplication Syndrome|Alobar Holoprosencephaly	no	no	no	no	NA
STAG3	HGNC:11356	MGI:1355311	OMIM:615723|OMIM:619672|ORPHA:619|ORPHA:399805	Premature Ovarian Failure 8|Spermatogenic Failure 61|Non Rare In Europe: Primary Ovarian Failure|Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	yes	yes	yes	yes	70.22
STAM	HGNC:11357	MGI:1329014	-	-	no	no	no	no	NA
STAM2	HGNC:11358	MGI:1929100	-	-	no	no	no	no	NA
STAMBP	HGNC:16950	MGI:1917777	OMIM:614261|ORPHA:294016	Microcephaly-Capillary Malformation Syndrome	yes	yes	yes	no	NA
STAMBPL1	HGNC:24105	MGI:1923880	-	-	no	no	no	no	NA
STAP1	HGNC:24133	MGI:1926193	ORPHA:406	Non Rare In Europe: Heterozygous Familial Hypercholesterolemia	yes	yes	no	no	NA
STAP2	HGNC:30430	MGI:2147039	-	-	no	no	no	no	NA
STAR	HGNC:11359	MGI:102760	OMIM:201710|ORPHA:361|ORPHA:325524|ORPHA:325529	Lipoid Congenital Adrenal Hyperplasia|Familial Glucocorticoid Deficiency|Classic Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency|Non-Classic Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	no	no	no	no	NA
STARD10	HGNC:10666	MGI:1860093	-	-	yes	no	no	no	NA
STARD13	HGNC:19164	MGI:2385331	-	-	yes	no	no	no	NA
STARD3	HGNC:17579	MGI:1929618	-	-	yes	no	no	no	NA
STARD3NL	HGNC:19169	MGI:1923455	-	-	yes	no	no	no	NA
STARD4	HGNC:18058	MGI:2156764	-	-	no	no	no	no	NA
STARD5	HGNC:18065	MGI:2156765	-	-	yes	no	no	no	NA
STARD6	HGNC:18066	MGI:2156774	-	-	yes	no	no	no	NA
STARD7	HGNC:18063	MGI:2139090	OMIM:607876	Epilepsy, Familial Adult Myoclonic, 2	yes	yes	yes	no	NA
STARD8	HGNC:19161	MGI:2448556	-	-	yes	no	no	no	NA
STARD9	HGNC:19162	MGI:3045258	-	-	yes	no	no	no	NA
STAT1	HGNC:11362	MGI:103063	OMIM:614892|OMIM:613796|OMIM:614162|ORPHA:319595|ORPHA:391487|ORPHA:391311	Immunodeficiency 31A|Immunodeficiency 31B|Immunodeficiency 31C|Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Stat1 Deficiency|Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome|Susceptibility To Viral And Mycobacterial Infections Due To Stat1 Deficiency	yes	yes	yes	yes	46.51
STAT2	HGNC:11363	MGI:103039	OMIM:616636|OMIM:618886|ORPHA:431166	Immunodeficiency 44|Pseudo-Torch Syndrome 3|Primary Immunodeficiency With Post-Measles-Mumps-Rubella Vaccine Viral Infection	yes	no	yes	no	NA
STAT3	HGNC:11364	MGI:103038	OMIM:615952|OMIM:147060|ORPHA:2314|ORPHA:438159|ORPHA:520|ORPHA:512017|ORPHA:86872|ORPHA:99885	Autoimmune Disease, Multisystem, Infantile-Onset, 1|Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections|Autosomal Dominant Hyper-Ige Syndrome|Stat3-Related Early-Onset Multisystem Autoimmune Disease|Acute Promyelocytic Leukemia|Chronic Lymphoproliferative Disorder Of Natural Killer Cells|T-Cell Large Granular Lymphocyte Leukemia|Isolated Permanent Neonatal Diabetes Mellitus	no	no	no	no	NA
STAT4	HGNC:11365	MGI:103062	OMIM:620443|OMIM:612253|ORPHA:536|ORPHA:117|ORPHA:85410|ORPHA:85408|ORPHA:93552	Disabling Pansclerotic Morphea Of Childhood|Systemic Lupus Erythematosus, Susceptibility To, 11|Systemic Lupus Erythematosus|Behçet Disease|Oligoarticular Juvenile Idiopathic Arthritis|Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis|Pediatric Systemic Lupus Erythematosus	yes	yes	yes	yes	41.79
STAT5A	HGNC:11366	MGI:103036	-	-	no	no	no	no	NA
STAT5B	HGNC:11367	MGI:103035	OMIM:245590|OMIM:618985|ORPHA:220465|ORPHA:520	Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive|Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant|Laron Syndrome With Immunodeficiency|Acute Promyelocytic Leukemia	no	no	no	no	NA
STAT6	HGNC:11368	MGI:103034	OMIM:620532|ORPHA:2126	Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections|Solitary Fibrous Tumor	yes	yes	yes	no	NA
STAU1	HGNC:11370	MGI:1338864	-	-	no	no	no	no	NA
STAU2	HGNC:11371	MGI:1352508	-	-	yes	no	no	no	NA
STBD1	HGNC:24854	MGI:1261768	-	-	yes	no	no	no	NA
STC1	HGNC:11373	MGI:109131	-	-	no	no	no	no	NA
STC2	HGNC:11374	MGI:1316731	-	-	no	no	no	no	NA
STEAP2	HGNC:17885	MGI:1921301	-	-	yes	no	no	no	NA
STEAP3	HGNC:24592	MGI:1915678	OMIM:615234|ORPHA:300298	Anemia, Hypochromic Microcytic, With Iron Overload 2|Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	yes	yes	yes	no	NA
STEAP4	HGNC:21923	MGI:1923560	-	-	no	no	no	no	NA
STEEP1	HGNC:26239	MGI:1924894	OMIM:301013|ORPHA:777	Intellectual Developmental Disorder, X-Linked 107|X-Linked Non-Syndromic Intellectual Disability	no	no	no	no	NA
STIL	HGNC:10879	MGI:107477	OMIM:612703|ORPHA:2512|ORPHA:280195|ORPHA:220386|ORPHA:93926|ORPHA:93924|ORPHA:93925|ORPHA:99861	Microcephaly 7, Primary, Autosomal Recessive|Autosomal Recessive Primary Microcephaly|Septopreoptic Holoprosencephaly|Semilobar Holoprosencephaly|Midline Interhemispheric Variant Of Holoprosencephaly|Lobar Holoprosencephaly|Alobar Holoprosencephaly|Precursor T-Cell Acute Lymphoblastic Leukemia	no	no	no	no	NA
STIM1	HGNC:11386	MGI:107476	OMIM:612783|OMIM:160565|OMIM:185070|ORPHA:3204|ORPHA:2593|ORPHA:317430	Immunodeficiency 10|Myopathy, Tubular Aggregate, 1|Stormorken Syndrome|Stormorken-Sjaastad-Langslet Syndrome|Tubular Aggregate Myopathy|Combined Immunodeficiency Due To Stim1 Deficiency	yes	yes	yes	yes	49.765
STIM2	HGNC:19205	MGI:2151156	-	-	yes	no	no	no	NA
STING1	HGNC:27962	MGI:1919762	OMIM:615934|ORPHA:425120|ORPHA:481662	Sting-Associated Vasculopathy, Infantile-Onset|Sting-Associated Vasculopathy With Onset In Infancy|Familial Chilblain Lupus	yes	yes	yes	no	NA
STIP1	HGNC:11387	MGI:109130	-	-	no	no	no	no	NA
STK10	HGNC:11388	MGI:1099439	-	-	no	no	no	no	NA
STK11	HGNC:11389	MGI:1341870	OMIM:273300|OMIM:155600|OMIM:260350|OMIM:175200|ORPHA:2869	Testicular Germ Cell Tumor|Melanoma, Cutaneous Malignant, Susceptibility To, 1|Pancreatic Cancer|Peutz-Jeghers Syndrome	no	no	no	no	NA
STK11IP	HGNC:19184	MGI:1918978	-	-	yes	no	no	no	NA
STK16	HGNC:11394	MGI:1313271	-	-	yes	no	no	no	NA
STK17B	HGNC:11396	MGI:2138162	-	-	no	no	no	no	NA
STK19	HGNC:11398	MGI:1860085	-	-	no	no	no	no	NA
STK24	HGNC:11403	MGI:2385007	-	-	no	no	no	no	NA
STK25	HGNC:11404	MGI:1891699	-	-	no	no	no	no	NA
STK26	HGNC:18174	MGI:1917665	-	-	yes	no	no	no	NA
STK3	HGNC:11406	MGI:1928487	-	-	yes	no	no	no	NA
STK31	HGNC:11407	MGI:1924735	-	-	yes	no	no	no	NA
STK32A	HGNC:28317	MGI:2442403	-	-	yes	no	no	no	NA
STK32B	HGNC:14217	MGI:1927552	-	-	no	no	no	no	NA
STK32C	HGNC:21332	MGI:2385336	-	-	yes	no	no	no	NA
STK33	HGNC:14568	MGI:2152419	-	-	yes	no	no	no	NA
STK35	HGNC:16254	MGI:1914583	-	-	yes	no	no	no	NA
STK36	HGNC:17209	MGI:1920831	OMIM:619436|ORPHA:244	Ciliary Dyskinesia, Primary, 46|Primary Ciliary Dyskinesia	yes	yes	yes	no	NA
STK38	HGNC:17847	MGI:2442572	-	-	yes	no	no	no	NA
STK38L	HGNC:17848	MGI:1922250	-	-	no	no	no	no	NA
STK39	HGNC:17717	MGI:1858416	-	-	yes	no	no	no	NA
STK4	HGNC:11408	MGI:1929004	OMIM:614868|ORPHA:314689	Immunodeficiency 110 With Lymphoproliferation|Combined Immunodeficiency Due To Stk4 Deficiency	no	no	no	no	NA
STK40	HGNC:21373	MGI:1921428	-	-	no	no	no	no	NA
STKLD1	HGNC:28669	MGI:2685557	-	-	no	no	no	no	NA
STMN1	HGNC:6510	MGI:96739	-	-	no	no	no	no	NA
STMN2	HGNC:10577	MGI:98241	-	-	yes	no	no	no	NA
STMN3	HGNC:15926	MGI:1277137	-	-	yes	no	no	no	NA
STMN4	HGNC:16078	MGI:1931224	-	-	yes	no	no	no	NA
STMND1	HGNC:44668	MGI:2686420	-	-	no	no	no	no	NA
STMP1	HGNC:41909	MGI:1914955	-	-	no	no	no	no	NA
STN1	HGNC:26200	MGI:1915581	OMIM:617341|ORPHA:313838|ORPHA:2032	Cerebroretinal Microangiopathy With Calcifications And Cysts 2|Coats Plus Syndrome|Idiopathic Pulmonary Fibrosis	no	no	no	no	NA
STOM	HGNC:3383	MGI:95403	-	-	yes	no	no	no	NA
STOML1	HGNC:14560	MGI:1916356	-	-	yes	no	no	no	NA
STOML2	HGNC:14559	MGI:1913842	-	-	yes	no	no	no	NA
STOML3	HGNC:19420	MGI:2388072	-	-	no	no	no	no	NA
STON1	HGNC:17003	MGI:1924307	-	-	no	no	no	no	NA
STON2	HGNC:30652	MGI:1918272	-	-	no	no	no	no	NA
STOX1	HGNC:23508	MGI:2684909	OMIM:609404|ORPHA:275555	Preeclampsia/Eclampsia 4|Preeclampsia	no	no	no	no	NA
STOX2	HGNC:25450	MGI:1918319	-	-	yes	no	no	no	NA
STPG1	HGNC:28070	MGI:1926056	-	-	no	no	no	no	NA
STPG2	HGNC:28712	MGI:2685863	-	-	no	no	no	no	NA
STPG3	HGNC:37285	MGI:1921722	-	-	no	no	no	no	NA
STPG4	HGNC:26850	MGI:1922717	-	-	yes	no	no	no	NA
STRA6	HGNC:30650	MGI:107742	OMIM:601186|ORPHA:2470|ORPHA:98938	Microphthalmia, Syndromic 9|Matthew-Wood Syndrome|Colobomatous Microphthalmia	no	no	no	no	NA
STRA8	HGNC:30653	MGI:107917	-	-	no	no	no	no	NA
STRADA	HGNC:30172	MGI:1919399	OMIM:611087|ORPHA:500533	Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy|Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	yes	yes	yes	yes	29.105
STRADB	HGNC:13205	MGI:2144047	-	-	yes	no	no	no	NA
STRAP	HGNC:30796	MGI:1329037	-	-	yes	no	no	no	NA
STRBP	HGNC:16462	MGI:104626	-	-	yes	no	no	no	NA
STRC	HGNC:16035	MGI:2153816	OMIM:603720|ORPHA:90636|ORPHA:94064	Deafness, Autosomal Recessive 16|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb|Deafness-Infertility Syndrome	yes	yes	yes	no	NA
STRIP1	HGNC:25916	MGI:2443884	-	-	no	no	no	no	NA
STRIP2	HGNC:22209	MGI:2444363	-	-	yes	no	no	no	NA
STRN	HGNC:11424	MGI:1333757	-	-	no	no	no	no	NA
STRN3	HGNC:15720	MGI:2151064	-	-	yes	no	no	no	NA
STRN4	HGNC:15721	MGI:2142346	-	-	yes	no	no	no	NA
STT3A	HGNC:6172	MGI:105124	OMIM:619714|OMIM:615596|ORPHA:370921	Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant|Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive|Stt3A-Cdg	no	no	no	no	NA
STT3B	HGNC:30611	MGI:1915542	OMIM:615597|ORPHA:370924	Congenital Disorder Of Glycosylation, Type Ix|Stt3B-Cdg	yes	yes	yes	yes	34.81
STUB1	HGNC:11427	MGI:1891731	OMIM:618093|OMIM:615768|ORPHA:412057|ORPHA:631103	Spinocerebellar Ataxia 48|Spinocerebellar Ataxia, Autosomal Recessive 16|Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency|Spinocerebellar Ataxia Type 48	no	no	no	no	NA
STUM	HGNC:30491	MGI:2138735	-	-	no	no	no	no	NA
STX11	HGNC:11429	MGI:1921982	OMIM:603552|ORPHA:540	Hemophagocytic Lymphohistiocytosis, Familial, 4|Familial Hemophagocytic Lymphohistiocytosis	yes	yes	yes	yes	36.345
STX12	HGNC:11430	MGI:1931027	-	-	no	no	no	no	NA
STX16	HGNC:11431	MGI:1923396	OMIM:603233|ORPHA:94089	Pseudohypoparathyroidism, Type Ib|Pseudohypoparathyroidism Type 1B	yes	yes	yes	yes	41.43
STX17	HGNC:11432	MGI:1914977	-	-	yes	no	no	no	NA
STX18	HGNC:15942	MGI:1918366	-	-	yes	no	no	no	NA
STX19	HGNC:19300	MGI:1915409	-	-	yes	no	no	no	NA
STX1A	HGNC:11433	MGI:109355	ORPHA:586|ORPHA:904	Cystic Fibrosis|Williams Syndrome	yes	yes	yes	no	NA
STX1B	HGNC:18539	MGI:1930705	OMIM:616172|ORPHA:36387	Generalized Epilepsy With Febrile Seizures Plus, Type 9|Generalized Epilepsy With Febrile Seizures-Plus	no	no	no	no	NA
STX2	HGNC:3403	MGI:108059	-	-	yes	no	no	no	NA
STX3	HGNC:11438	MGI:103077	OMIM:619445|OMIM:619446|ORPHA:2290	Diarrhea 12, With Microvillus Atrophy|Retinal Dystrophy And Microvillus Inclusion Disease|Microvillus Inclusion Disease	yes	yes	yes	no	NA
STX4	HGNC:11439	MGI:893577	-	-	yes	no	no	no	NA
STX5	HGNC:11440	MGI:1928483	OMIM:620454	Congenital Disorder Of Glycosylation, Type Iiaa	yes	yes	yes	no	NA
STX6	HGNC:11441	MGI:1926235	-	-	yes	no	no	no	NA
STX7	HGNC:11442	MGI:1858210	-	-	yes	no	no	no	NA
STX8	HGNC:11443	MGI:1890156	-	-	yes	no	no	no	NA
STXBP1	HGNC:11444	MGI:107363	OMIM:612164|ORPHA:495818|ORPHA:599373	Developmental And Epileptic Encephalopathy 4|9Q33.3Q34.11 Microdeletion Syndrome|Stxbp1-Related Encephalopathy	yes	yes	yes	yes	55.975
STXBP2	HGNC:11445	MGI:107370	OMIM:613101|ORPHA:540	Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease|Familial Hemophagocytic Lymphohistiocytosis	no	no	no	no	NA
STXBP3	HGNC:11446	MGI:107362	-	-	no	no	no	no	NA
STXBP4	HGNC:19694	MGI:1342296	-	-	yes	no	no	no	NA
STXBP5	HGNC:19665	MGI:1926058	-	-	yes	no	no	no	NA
STXBP5L	HGNC:30757	MGI:2443815	-	-	yes	no	no	no	NA
STXBP6	HGNC:19666	MGI:2384963	-	-	no	no	no	no	NA
STYK1	HGNC:18889	MGI:2141396	-	-	no	no	no	no	NA
STYX	HGNC:11447	MGI:1891150	-	-	no	no	no	no	NA
STYXL1	HGNC:18165	MGI:1923821	-	-	yes	no	no	no	NA
STYXL2	HGNC:25034	MGI:2685055	-	-	yes	no	no	no	NA
SUB1	HGNC:19985	MGI:104811	-	-	no	no	no	no	NA
SUCLA2	HGNC:11448	MGI:1306775	OMIM:612073|ORPHA:1933	Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)|Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	no	no	no	no	NA
SUCLG1	HGNC:11449	MGI:1927234	OMIM:245400|ORPHA:17	Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)|Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	yes	yes	yes	yes	23.835
SUCLG2	HGNC:11450	MGI:1306824	-	-	yes	no	no	no	NA
SUCNR1	HGNC:4542	MGI:1934135	-	-	no	no	no	no	NA
SUCO	HGNC:1240	MGI:2138346	-	-	yes	no	no	no	NA
SUDS3	HGNC:29545	MGI:1919204	-	-	no	no	no	no	NA
SUFU	HGNC:16466	MGI:1345643	OMIM:620343|OMIM:617757|OMIM:155255|OMIM:607174|ORPHA:377|ORPHA:475|ORPHA:2495|ORPHA:251863|ORPHA:251858|ORPHA:263662|ORPHA:280200	Basal Cell Nevus Syndrome 2|Joubert Syndrome 32|Medulloblastoma|Meningioma, Familial, Susceptibility To|Gorlin Syndrome|Joubert Syndrome|Meningioma|Desmoplastic/Nodular Medulloblastoma|Medulloblastoma With Extensive Nodularity|Familial Multiple Meningioma|Microform Holoprosencephaly	yes	yes	yes	yes	39.1
SUGCT	HGNC:16001	MGI:1923221	OMIM:231690|ORPHA:35706	Glutaric Aciduria Iii|Glutaric Acidemia Type 3	yes	no	yes	no	NA
SUGP1	HGNC:18643	MGI:1917866	-	-	yes	no	no	no	NA
SUGP2	HGNC:18641	MGI:2678085	-	-	no	no	no	no	NA
SUGT1	HGNC:16987	MGI:1915205	-	-	yes	no	no	no	NA
SULF1	HGNC:20391	MGI:2138563	-	-	yes	no	no	no	NA
SULF2	HGNC:20392	MGI:1919293	-	-	no	no	no	no	NA
SULT1B1	HGNC:17845	MGI:2136282	-	-	yes	no	no	no	NA
SULT1C2	HGNC:11456	MGI:1916333	-	-	yes	no	no	no	NA
SULT1C3	HGNC:33543	MGI:102928	-	-	yes	no	no	no	NA
SULT1E1	HGNC:11377	MGI:98431	-	-	no	no	no	no	NA
SULT2B1	HGNC:11459	MGI:1926342	OMIM:617571|ORPHA:313|ORPHA:79394	Ichthyosis, Congenital, Autosomal Recessive 14|Lamellar Ichthyosis|Congenital Ichthyosiform Erythroderma	no	no	no	no	NA
SULT4A1	HGNC:14903	MGI:1888971	-	-	no	no	no	no	NA
SULT6B1	HGNC:33433	MGI:1920921	-	-	no	no	no	no	NA
SUMF1	HGNC:20376	MGI:1889844	OMIM:272200|ORPHA:585	Multiple Sulfatase Deficiency	yes	yes	yes	yes	20.07
SUMF2	HGNC:20415	MGI:1915152	-	-	no	no	no	no	NA
SUMO1	HGNC:12502	MGI:1197010	OMIM:613705|ORPHA:99798	Orofacial Cleft 10|Oligodontia	yes	yes	yes	no	NA
SUMO2	HGNC:11125	MGI:2158813	-	-	no	no	no	no	NA
SUMO3	HGNC:11124	MGI:1336201	-	-	no	no	no	no	NA
SUN1	HGNC:18587	MGI:1924303	-	-	yes	no	no	no	NA
SUN2	HGNC:14210	MGI:2443011	-	-	yes	no	no	no	NA
SUN3	HGNC:22429	MGI:3041199	-	-	no	no	no	no	NA
SUN5	HGNC:16252	MGI:1923657	OMIM:617187|ORPHA:529970	Spermatogenic Failure 16|Male Infertility Due To Acephalic Spermatozoa	yes	yes	yes	yes	60.72
SUOX	HGNC:11460	MGI:2446117	OMIM:272300|ORPHA:99731	Sulfite Oxidase Deficiency, Isolated|Isolated Sulfite Oxidase Deficiency	yes	no	yes	no	NA
SUPT16H	HGNC:11465	MGI:1890948	OMIM:619480|ORPHA:261229	Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum|14Q11.2 Microduplication Syndrome	no	no	no	no	NA
SUPT20H	HGNC:20596	MGI:1929651	-	-	no	no	no	no	NA
SUPT3H	HGNC:11466	MGI:1923723	-	-	yes	no	no	no	NA
SUPT4H1	HGNC:11467	MGI:107416	-	-	yes	no	no	no	NA
SUPT5H	HGNC:11469	MGI:1202400	-	-	yes	no	no	no	NA
SUPT6H	HGNC:11470	MGI:107726	-	-	no	no	no	no	NA
SUPT7L	HGNC:30632	MGI:1919445	-	-	yes	no	no	no	NA
SUPV3L1	HGNC:11471	MGI:2441711	-	-	yes	no	no	no	NA
SURF1	HGNC:11474	MGI:98443	OMIM:616684|OMIM:220110|ORPHA:391351	Charcot-Marie-Tooth Disease, Type 4K|Mitochondrial Complex Iv Deficiency, Nuclear Type 1|Surf1-Related Charcot-Marie-Tooth Disease Type 4	no	no	no	no	NA
SURF2	HGNC:11475	MGI:98444	-	-	no	no	no	no	NA
SURF4	HGNC:11476	MGI:98445	-	-	yes	no	no	no	NA
SURF6	HGNC:11478	MGI:98447	-	-	no	no	no	no	NA
SUSD1	HGNC:25413	MGI:3651543	-	-	yes	no	no	no	NA
SUSD2	HGNC:30667	MGI:1918983	-	-	no	no	no	no	NA
SUSD3	HGNC:28391	MGI:1913579	-	-	no	no	no	no	NA
SUSD4	HGNC:25470	MGI:2138351	-	-	no	no	no	no	NA
SUSD5	HGNC:29061	MGI:2685972	-	-	no	no	no	no	NA
SUSD6	HGNC:19956	MGI:2444661	-	-	yes	no	no	no	NA
SUV39H1	HGNC:11479	MGI:1099440	-	-	no	no	no	no	NA
SUV39H2	HGNC:17287	MGI:1890396	-	-	yes	no	no	no	NA
SUZ12	HGNC:17101	MGI:1261758	OMIM:618786|ORPHA:3447|ORPHA:213711	Imagawa-Matsumoto Syndrome|Weaver Syndrome|Endometrial Stromal Sarcoma	no	no	no	no	NA
SV2A	HGNC:20566	MGI:1927139	-	-	no	no	no	no	NA
SV2B	HGNC:16874	MGI:1927338	-	-	no	no	no	no	NA
SV2C	HGNC:30670	MGI:1922459	-	-	no	no	no	no	NA
SVBP	HGNC:29204	MGI:1916466	OMIM:618569|ORPHA:528084	Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly|Non-Specific Syndromic Intellectual Disability	no	no	no	no	NA
SVEP1	HGNC:15985	MGI:1928849	-	-	yes	no	no	no	NA
SVIL	HGNC:11480	MGI:2147319	OMIM:619040	Myofibrillar Myopathy 10	yes	yes	yes	no	NA
SVIP	HGNC:25238	MGI:1922994	-	-	no	no	no	no	NA
SVOP	HGNC:25417	MGI:1915916	-	-	yes	no	no	no	NA
SVOPL	HGNC:27034	MGI:2444335	-	-	yes	no	no	no	NA
SWAP70	HGNC:17070	MGI:1298390	-	-	no	no	no	no	NA
SWI5	HGNC:31412	MGI:1920181	-	-	no	no	no	no	NA
SWSAP1	HGNC:26638	MGI:1914212	-	-	no	no	no	no	NA
SWT1	HGNC:16785	MGI:1914125	-	-	yes	no	no	no	NA
SYAP1	HGNC:16273	MGI:1914293	-	-	no	no	no	no	NA
SYBU	HGNC:26011	MGI:2442392	-	-	yes	no	no	no	NA
SYCE1	HGNC:28852	MGI:1921325	OMIM:616947|OMIM:616950|ORPHA:619|ORPHA:399805	Premature Ovarian Failure 12|Spermatogenic Failure 15|Non Rare In Europe: Primary Ovarian Failure|Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	yes	yes	yes	yes	53.59
SYCE1L	HGNC:37236	MGI:1922247	-	-	yes	no	no	no	NA
SYCE2	HGNC:27411	MGI:1919096	-	-	yes	no	no	no	NA
SYCE3	HGNC:35245	MGI:1922709	-	-	no	no	no	no	NA
SYCN	HGNC:18442	MGI:1915666	-	-	no	no	no	no	NA
SYCP1	HGNC:11487	MGI:105931	-	-	no	no	no	no	NA
SYCP2	HGNC:11490	MGI:1933281	OMIM:258150	Spermatogenic Failure 1	yes	yes	yes	yes	53.66
SYCP2L	HGNC:21537	MGI:2685114	-	-	no	no	no	no	NA
SYCP3	HGNC:18130	MGI:109542	OMIM:270960|ORPHA:399805	Spermatogenic Failure 4|Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	yes	yes	yes	no	NA
SYDE1	HGNC:25824	MGI:1918959	-	-	yes	no	no	no	NA
SYDE2	HGNC:25841	MGI:3036264	-	-	no	no	no	no	NA
SYF2	HGNC:19824	MGI:1915842	-	-	no	no	no	no	NA
SYK	HGNC:11491	MGI:99515	OMIM:619381	Immunodeficiency 82 With Systemic Inflammation	yes	yes	yes	yes	13.42
SYMPK	HGNC:22935	MGI:1915438	-	-	yes	no	no	no	NA
SYN1	HGNC:11494	MGI:98460	OMIM:300491|OMIM:300115|ORPHA:85294	Epilepsy, X-Linked 1, With Variable Learning Disabilities And Behavior Disorders|Intellectual Developmental Disorder, X-Linked 50|X-Linked Epilepsy-Learning Disabilities-Behavior Disorders Syndrome	no	no	no	no	NA
SYN2	HGNC:11495	MGI:103020	OMIM:181500	Schizophrenia	no	no	no	no	NA
SYN3	HGNC:11496	MGI:1351334	-	-	yes	no	no	no	NA
SYNC	HGNC:28897	MGI:1916078	-	-	no	no	no	no	NA
SYNCRIP	HGNC:16918	MGI:1891690	ORPHA:528084	Non-Specific Syndromic Intellectual Disability	yes	yes	no	no	NA
SYNDIG1	HGNC:15885	MGI:3702158	-	-	no	no	no	no	NA
SYNDIG1L	HGNC:32388	MGI:2685107	-	-	yes	no	no	no	NA
SYNE1	HGNC:17089	MGI:1927152	OMIM:618484|OMIM:612998|OMIM:610743|ORPHA:319332|ORPHA:88644|ORPHA:98853	Arthrogryposis Multiplex Congenita 3, Myogenic Type|Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant|Spinocerebellar Ataxia, Autosomal Recessive 8|Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita|Autosomal Recessive Ataxia, Beauce Type|Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	yes	yes	yes	no	NA
SYNE2	HGNC:17084	MGI:2449316	OMIM:612999|ORPHA:98853	Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant|Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	yes	yes	yes	yes	35.37
SYNE3	HGNC:19861	MGI:2442408	-	-	yes	no	no	no	NA
SYNE4	HGNC:26703	MGI:2141950	OMIM:615540|ORPHA:90636	Deafness, Autosomal Recessive 76|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	no	no	no	no	NA
SYNGAP1	HGNC:11497	MGI:3039785	OMIM:612621|ORPHA:178469|ORPHA:1942|ORPHA:442835|ORPHA:544254	Intellectual Developmental Disorder, Autosomal Dominant 5|Autosomal Dominant Non-Syndromic Intellectual Disability|Myoclonic-Astatic Epilepsy|Non-Specific Early-Onset Epileptic Encephalopathy|Syngap1-Related Developmental And Epileptic Encephalopathy	no	no	no	no	NA
SYNGR1	HGNC:11498	MGI:1328323	-	-	yes	no	no	no	NA
SYNGR2	HGNC:11499	MGI:1328324	-	-	yes	no	no	no	NA
SYNGR3	HGNC:11501	MGI:1341881	-	-	yes	no	no	no	NA
SYNGR4	HGNC:11502	MGI:1928903	-	-	no	no	no	no	NA
SYNJ1	HGNC:11503	MGI:1354961	OMIM:617389|OMIM:615530|ORPHA:2828|ORPHA:391411|ORPHA:442835	Developmental And Epileptic Encephalopathy 53|Parkinson Disease 20, Early-Onset|Young-Onset Parkinson Disease|Atypical Juvenile Parkinsonism|Non-Specific Early-Onset Epileptic Encephalopathy	yes	yes	yes	yes	49.7
SYNJ2	HGNC:11504	MGI:1201671	-	-	yes	no	no	no	NA
SYNJ2BP	HGNC:18955	MGI:1344347	-	-	no	no	no	no	NA
SYNM	HGNC:24466	MGI:2661187	-	-	yes	no	no	no	NA
SYNPO	HGNC:30672	MGI:1099446	-	-	no	no	no	no	NA
SYNPO2	HGNC:17732	MGI:2153070	-	-	yes	no	no	no	NA
SYNPO2L	HGNC:23532	MGI:1916010	-	-	no	no	no	no	NA
SYNPR	HGNC:16507	MGI:1919253	-	-	no	no	no	no	NA
SYNRG	HGNC:557	MGI:1354742	-	-	yes	no	no	no	NA
SYP	HGNC:11506	MGI:98467	OMIM:300802|ORPHA:777	Intellectual Developmental Disorder, X-Linked 96|X-Linked Non-Syndromic Intellectual Disability	yes	yes	yes	no	NA
SYPL1	HGNC:11507	MGI:108081	-	-	yes	no	no	no	NA
SYPL2	HGNC:27638	MGI:1328311	-	-	no	no	no	no	NA
SYS1	HGNC:16162	MGI:1913710	-	-	no	no	no	no	NA
SYT1	HGNC:11509	MGI:99667	OMIM:618218|ORPHA:522077	Baker-Gordon Syndrome|Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	yes	yes	yes	no	NA
SYT10	HGNC:19266	MGI:1859546	-	-	no	no	no	no	NA
SYT11	HGNC:19239	MGI:1859547	-	-	no	no	no	no	NA
SYT12	HGNC:18381	MGI:2159601	-	-	no	no	no	no	NA
SYT13	HGNC:14962	MGI:1933945	-	-	no	no	no	no	NA
SYT14	HGNC:23143	MGI:2444490	OMIM:614229|ORPHA:284271	Spinocerebellar Ataxia, Autosomal Recessive 11|Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	yes	no	yes	no	NA
SYT15	HGNC:17167	MGI:2442166	-	-	no	no	no	no	NA
SYT16	HGNC:23142	MGI:2673872	-	-	yes	no	no	no	NA
SYT17	HGNC:24119	MGI:104966	-	-	yes	no	no	no	NA
SYT2	HGNC:11510	MGI:99666	OMIM:616040|OMIM:619461|ORPHA:98914	Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant|Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive|Presynaptic Congenital Myasthenic Syndromes	no	no	no	no	NA
SYT3	HGNC:11511	MGI:99665	-	-	no	no	no	no	NA
SYT4	HGNC:11512	MGI:101759	-	-	yes	no	no	no	NA
SYT5	HGNC:11513	MGI:1926368	-	-	no	no	no	no	NA
SYT6	HGNC:18638	MGI:1859544	-	-	no	no	no	no	NA
SYT7	HGNC:11514	MGI:1859545	-	-	yes	no	no	no	NA
SYT8	HGNC:19264	MGI:1859867	-	-	yes	no	no	no	NA
SYT9	HGNC:19265	MGI:1926373	-	-	yes	no	no	no	NA
SYTL1	HGNC:15584	MGI:1933365	-	-	yes	no	no	no	NA
SYTL2	HGNC:15585	MGI:1933366	-	-	no	no	no	no	NA
SYTL3	HGNC:15587	MGI:1933367	-	-	yes	no	no	no	NA
SYTL4	HGNC:15588	MGI:1351606	-	-	yes	no	no	no	NA
SYTL5	HGNC:15589	MGI:2668451	-	-	yes	no	no	no	NA
SYVN1	HGNC:20738	MGI:1921376	-	-	no	no	no	no	NA
SZRD1	HGNC:30232	MGI:1098672	-	-	yes	no	no	no	NA
SZT2	HGNC:29040	MGI:3033336	OMIM:615476|ORPHA:442835	Developmental And Epileptic Encephalopathy 18|Non-Specific Early-Onset Epileptic Encephalopathy	yes	yes	yes	yes	35.875
TAAR1	HGNC:17734	MGI:2148258	-	-	no	no	no	no	NA
TAAR2	HGNC:4514	MGI:2685071	-	-	yes	no	no	no	NA
TAAR5	HGNC:30236	MGI:2685073	-	-	no	no	no	no	NA
TAAR6	HGNC:20978	MGI:2685074	-	-	yes	no	no	no	NA
TAAR9	HGNC:20977	MGI:3527454	-	-	no	no	no	no	NA
TAB1	HGNC:18157	MGI:1913763	-	-	no	no	no	no	NA
TAB2	HGNC:17075	MGI:1915902	OMIM:614980|ORPHA:228410	Congenital Heart Defects, Multiple Types, 2|Polyvalvular Heart Disease Syndrome	no	no	no	no	NA
TAB3	HGNC:30681	MGI:1913974	-	-	no	no	no	no	NA
TAC1	HGNC:11517	MGI:98474	-	-	yes	no	no	no	NA
TAC3	HGNC:11521	MGI:98476	OMIM:614839|ORPHA:432	Hypogonadotropic Hypogonadism 10 With Or Without Anosmia|Normosmic Congenital Hypogonadotropic Hypogonadism	no	no	no	no	NA
TAC4	HGNC:16641	MGI:1931130	-	-	no	no	no	no	NA
TACC1	HGNC:11522	MGI:2443510	ORPHA:251576|ORPHA:251579	Gliosarcoma|Giant Cell Glioblastoma	yes	no	no	no	NA
TACC2	HGNC:11523	MGI:1928899	-	-	no	no	no	no	NA
TACC3	HGNC:11524	MGI:1341163	ORPHA:251576|ORPHA:251579	Gliosarcoma|Giant Cell Glioblastoma	no	no	no	no	NA
TACO1	HGNC:24316	MGI:1917457	OMIM:619052	Mitochondrial Complex Iv Deficiency, Nuclear Type 8	yes	yes	yes	no	NA
TACR1	HGNC:11526	MGI:98475	-	-	no	no	no	no	NA
TACR2	HGNC:11527	MGI:98477	-	-	no	no	no	no	NA
TACR3	HGNC:11528	MGI:892968	OMIM:614840|ORPHA:478|ORPHA:432	Hypogonadotropic Hypogonadism 11 With Or Without Anosmia|Kallmann Syndrome|Normosmic Congenital Hypogonadotropic Hypogonadism	yes	yes	yes	yes	44.99
TACSTD2	HGNC:11530	MGI:1861606	OMIM:204870|ORPHA:98957	Corneal Dystrophy, Gelatinous Drop-Like|Gelatinous Drop-Like Corneal Dystrophy	yes	yes	yes	no	NA
TADA1	HGNC:30631	MGI:1196415	-	-	yes	no	no	no	NA
TADA2A	HGNC:11531	MGI:2144471	-	-	yes	no	no	no	NA
TADA2B	HGNC:30781	MGI:3035274	-	-	no	no	no	no	NA
TADA3	HGNC:19422	MGI:1915724	-	-	no	no	no	no	NA
TAF10	HGNC:11543	MGI:1346320	-	-	no	no	no	no	NA
TAF11	HGNC:11544	MGI:1916026	-	-	yes	no	no	no	NA
TAF12	HGNC:11545	MGI:1913714	-	-	yes	no	no	no	NA
TAF13	HGNC:11546	MGI:1913500	OMIM:617432|ORPHA:2512	Intellectual Developmental Disorder, Autosomal Recessive 60|Autosomal Recessive Primary Microcephaly	yes	yes	yes	no	NA
TAF15	HGNC:11547	MGI:1917689	OMIM:612237|ORPHA:803|ORPHA:209916	Chondrosarcoma, Extraskeletal Myxoid|Amyotrophic Lateral Sclerosis|Extraskeletal Myxoid Chondrosarcoma	yes	yes	yes	no	NA
TAF1A	HGNC:11532	MGI:109578	ORPHA:154	Familial Isolated Dilated Cardiomyopathy	yes	yes	yes	no	NA
TAF1B	HGNC:11533	MGI:109577	-	-	no	no	no	no	NA
TAF1C	HGNC:11534	MGI:109576	-	-	yes	no	no	no	NA
TAF1D	HGNC:28759	MGI:1922566	-	-	yes	no	no	no	NA
TAF2	HGNC:11536	MGI:2443028	OMIM:615599|ORPHA:397951	Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity|Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	yes	yes	yes	no	NA
TAF3	HGNC:17303	MGI:2388097	-	-	no	no	no	no	NA
TAF4	HGNC:11537	MGI:2152346	OMIM:620450|ORPHA:528084	Intellectual Developmental Disorder, Autosomal Dominant 73|Non-Specific Syndromic Intellectual Disability	no	no	no	no	NA
TAF4B	HGNC:11538	MGI:2152345	OMIM:615841|ORPHA:399805	Spermatogenic Failure 13|Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	no	no	no	no	NA
TAF5	HGNC:11539	MGI:2442144	-	-	yes	no	no	no	NA
TAF5L	HGNC:17304	MGI:1919039	-	-	no	no	no	no	NA
TAF6	HGNC:11540	MGI:109129	OMIM:617126	Alazami-Yuan Syndrome	yes	yes	yes	no	NA
TAF6L	HGNC:17305	MGI:2444957	-	-	no	no	no	no	NA
TAF7	HGNC:11541	MGI:1346348	-	-	no	no	no	no	NA
TAF7L	HGNC:11548	MGI:1921719	-	-	no	no	no	no	NA
TAF8	HGNC:17300	MGI:1926879	OMIM:619972	Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	yes	yes	yes	no	NA
TAF9	HGNC:11542	MGI:1888697	-	-	no	no	no	no	NA
TAF9B	HGNC:17306	MGI:3039562	-	-	yes	no	no	no	NA
TAFA1	HGNC:21587	MGI:2443695	-	-	yes	no	no	no	NA
TAFA2	HGNC:21589	MGI:2143691	-	-	yes	no	no	no	NA
TAFA3	HGNC:21590	MGI:3046463	-	-	yes	no	no	no	NA
TAFA4	HGNC:21591	MGI:2444563	-	-	yes	no	no	no	NA
TAFA5	HGNC:21592	MGI:2146182	-	-	no	no	no	no	NA
TAFAZZIN	HGNC:11577	MGI:109626	OMIM:302060|ORPHA:154|ORPHA:111	Barth Syndrome|Familial Isolated Dilated Cardiomyopathy	no	no	no	no	NA
TAGLN	HGNC:11553	MGI:106012	-	-	no	no	no	no	NA
TAGLN2	HGNC:11554	MGI:1312985	-	-	yes	no	no	no	NA
TAGLN3	HGNC:29868	MGI:1926784	-	-	no	no	no	no	NA
TAL1	HGNC:11556	MGI:98480	OMIM:613065|ORPHA:99861	Leukemia, Acute Lymphoblastic|Precursor T-Cell Acute Lymphoblastic Leukemia	no	no	no	no	NA
TAL2	HGNC:11557	MGI:99540	OMIM:613065	Leukemia, Acute Lymphoblastic	yes	yes	yes	no	NA
TALDO1	HGNC:11559	MGI:1274789	OMIM:606003|ORPHA:101028	Transaldolase Deficiency	no	no	no	no	NA
TAMALIN	HGNC:18707	MGI:1860303	-	-	no	no	no	no	NA
TAMM41	HGNC:25187	MGI:1916221	OMIM:620139	Combined Oxidative Phosphorylation Deficiency 56	yes	no	no	no	NA
TANC1	HGNC:29364	MGI:1914110	-	-	yes	no	no	no	NA
TANC2	HGNC:30212	MGI:2444121	OMIM:618906|ORPHA:528084	Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures|Non-Specific Syndromic Intellectual Disability	yes	yes	yes	yes	46.86
TANGO2	HGNC:25439	MGI:101825	OMIM:616878|ORPHA:480864	Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration|Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	yes	yes	yes	no	NA
TANGO6	HGNC:25749	MGI:2142786	-	-	yes	no	no	no	NA
TANK	HGNC:11562	MGI:107676	-	-	no	no	no	no	NA
TAOK1	HGNC:29259	MGI:1914490	OMIM:619575|ORPHA:178469	Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities|Autosomal Dominant Non-Syndromic Intellectual Disability	yes	yes	yes	yes	30.865
TAOK2	HGNC:16835	MGI:1915919	-	-	yes	no	no	no	NA
TAOK3	HGNC:18133	MGI:3041177	-	-	yes	no	no	no	NA
TAP1	HGNC:43	MGI:98483	OMIM:604571|ORPHA:34592	Bare Lymphocyte Syndrome, Type I|Immunodeficiency By Defective Expression Of Mhc Class I	yes	yes	yes	no	NA
TAP2	HGNC:44	MGI:98484	OMIM:604571|ORPHA:34592	Bare Lymphocyte Syndrome, Type I|Immunodeficiency By Defective Expression Of Mhc Class I	no	no	no	no	NA
TAPBP	HGNC:11566	MGI:1201689	OMIM:604571|ORPHA:34592	Bare Lymphocyte Syndrome, Type I|Immunodeficiency By Defective Expression Of Mhc Class I	no	no	no	no	NA
TAPBPL	HGNC:30683	MGI:2384853	-	-	yes	no	no	no	NA
TAPT1	HGNC:26887	MGI:2683537	OMIM:616897|ORPHA:457378	Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type|Complex Lethal Osteochondrodysplasia	no	no	no	no	NA
TARBP1	HGNC:11568	MGI:4936930	-	-	yes	no	no	no	NA
TARBP2	HGNC:11569	MGI:103027	-	-	no	no	no	no	NA
TARDBP	HGNC:11571	MGI:2387629	OMIM:612069|ORPHA:803|ORPHA:275872	Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia|Amyotrophic Lateral Sclerosis|Frontotemporal Dementia With Motor Neuron Disease	yes	yes	yes	no	NA
TARM1	HGNC:37250	MGI:2442280	-	-	no	no	no	no	NA
TARS1	HGNC:11572	MGI:106314	OMIM:618546|ORPHA:33364	Trichothiodystrophy 7, Nonphotosensitive|Trichothiodystrophy	no	no	no	no	NA
TARS2	HGNC:30740	MGI:1919057	OMIM:615918|ORPHA:420733	Combined Oxidative Phosphorylation Deficiency 21|Combined Oxidative Phosphorylation Defect Type 21	yes	yes	yes	yes	26.9
TARS3	HGNC:24728	MGI:2444486	-	-	yes	no	no	no	NA
TAS1R1	HGNC:14448	MGI:1927505	-	-	no	no	no	no	NA
TAS1R2	HGNC:14905	MGI:1933546	-	-	no	no	no	no	NA
TAS1R3	HGNC:15661	MGI:1933547	-	-	no	no	no	no	NA
TAS2R1	HGNC:14909	MGI:2681253	-	-	yes	no	no	no	NA
TAS2R16	HGNC:14921	MGI:2681247	OMIM:617956|OMIM:103780	Beta-Glucopyranoside Tasting|Alcohol Dependence	no	no	no	no	NA
TAS2R3	HGNC:14910	MGI:3606604	-	-	no	no	no	no	NA
TAS2R38	HGNC:9584	MGI:2681306	OMIM:171200	Thiourea Tasting	yes	yes	no	no	NA
TAS2R39	HGNC:18886	MGI:2681308	-	-	yes	no	no	no	NA
TAS2R4	HGNC:14911	MGI:2681210	-	-	no	no	no	no	NA
TAS2R40	HGNC:18885	MGI:2681312	-	-	no	no	no	no	NA
TAS2R41	HGNC:18883	MGI:2681273	-	-	no	no	no	no	NA
TAS2R42	HGNC:18888	MGI:2681280	-	-	yes	no	no	no	NA
TAS2R60	HGNC:20639	MGI:2681302	-	-	no	no	no	no	NA
TAS2R7	HGNC:14913	MGI:2681278	-	-	no	no	no	no	NA
TASL	HGNC:25667	MGI:1918648	-	-	no	no	no	no	NA
TASOR	HGNC:30314	MGI:1921694	-	-	yes	no	no	no	NA
TASOR2	HGNC:23484	MGI:2145274	-	-	yes	no	no	no	NA
TASP1	HGNC:15859	MGI:1923062	OMIM:618950	Suleiman-El-Hattab Syndrome	no	no	no	no	NA
TAT	HGNC:11573	MGI:98487	OMIM:276600|ORPHA:28378	Tyrosinemia, Type Ii|Tyrosinemia Type 2	yes	yes	yes	no	NA
TATDN1	HGNC:24220	MGI:1916944	-	-	no	no	no	no	NA
TATDN2	HGNC:28988	MGI:3576210	-	-	yes	no	no	no	NA
TATDN3	HGNC:27010	MGI:1916222	-	-	yes	no	no	no	NA
TAX1BP1	HGNC:11575	MGI:1289308	-	-	no	no	no	no	NA
TAX1BP3	HGNC:30684	MGI:1923531	-	-	yes	no	no	no	NA
TBATA	HGNC:23511	MGI:1923820	-	-	no	no	no	no	NA
TBC1D1	HGNC:11578	MGI:1889508	-	-	yes	no	no	no	NA
TBC1D10A	HGNC:23609	MGI:2144164	-	-	yes	no	no	no	NA
TBC1D10B	HGNC:24510	MGI:1915699	-	-	no	no	no	no	NA
TBC1D10C	HGNC:24702	MGI:1922072	-	-	no	no	no	no	NA
TBC1D12	HGNC:29082	MGI:2384803	-	-	no	no	no	no	NA
TBC1D13	HGNC:25571	MGI:2385326	-	-	no	no	no	no	NA
TBC1D14	HGNC:29246	MGI:1098708	-	-	no	no	no	no	NA
TBC1D15	HGNC:25694	MGI:1913937	-	-	no	no	no	no	NA
TBC1D16	HGNC:28356	MGI:2652878	-	-	yes	no	no	no	NA
TBC1D17	HGNC:25699	MGI:2449973	-	-	no	no	no	no	NA
TBC1D19	HGNC:25624	MGI:1914499	-	-	no	no	no	no	NA
TBC1D2	HGNC:18026	MGI:2652885	-	-	yes	no	no	no	NA
TBC1D20	HGNC:16133	MGI:1914481	OMIM:615663|ORPHA:2510	Warburg Micro Syndrome 4|Micro Syndrome	yes	yes	yes	yes	16.51
TBC1D21	HGNC:28536	MGI:1921536	-	-	yes	no	no	no	NA
TBC1D22A	HGNC:1309	MGI:1289265	-	-	yes	no	no	no	NA
TBC1D22B	HGNC:21602	MGI:2681867	-	-	no	no	no	no	NA
TBC1D23	HGNC:25622	MGI:1914831	OMIM:617695	Pontocerebellar Hypoplasia, Type 11	no	no	no	no	NA
TBC1D24	HGNC:29203	MGI:2443456	OMIM:220500|OMIM:616044|OMIM:614617|OMIM:615338|OMIM:608105|OMIM:605021|ORPHA:163727|ORPHA:352596|ORPHA:352587|ORPHA:352582|ORPHA:293181|ORPHA:90635|ORPHA:90636|ORPHA:79500	Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome|Deafness, Autosomal Dominant 65|Deafness, Autosomal Recessive 86|Developmental And Epileptic Encephalopathy 16|Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp|Myoclonic Epilepsy, Familial Infantile|Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome|Progressive Myoclonic Epilepsy With Dystonia|Focal Epilepsy-Intellectual Disability-Cerebro-Cerebellar Malformation|Familial Infantile Myoclonic Epilepsy|Malignant Migrating Focal Seizures Of Infancy|Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb|Doors Syndrome	yes	no	yes	no	NA
TBC1D25	HGNC:8092	MGI:2444862	-	-	yes	no	no	no	NA
TBC1D2B	HGNC:29183	MGI:1914266	OMIM:619323|ORPHA:397973	Neurodevelopmental Disorder With Seizures And Gingival Overgrowth|Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	yes	yes	yes	yes	30.145
TBC1D30	HGNC:29164	MGI:1921944	-	-	yes	no	no	no	NA
TBC1D31	HGNC:30888	MGI:2684931	-	-	yes	no	no	no	NA
TBC1D32	HGNC:21485	MGI:2442827	-	-	yes	no	no	no	NA
TBC1D4	HGNC:19165	MGI:2429660	OMIM:616087	Type 2 Diabetes 5	yes	yes	no	no	NA
TBC1D5	HGNC:19166	MGI:1919488	-	-	yes	no	no	no	NA
TBC1D7	HGNC:21066	MGI:1914296	OMIM:248000|ORPHA:268920	Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive|Isolated Megalencephaly	no	no	no	no	NA
TBC1D8	HGNC:17791	MGI:1927225	-	-	yes	no	no	no	NA
TBC1D8B	HGNC:24715	MGI:1918101	OMIM:301028|ORPHA:656	Nephrotic Syndrome, Type 20|Genetic Steroid-Resistant Nephrotic Syndrome	yes	yes	yes	yes	16.64
TBC1D9	HGNC:21710	MGI:1918560	-	-	no	no	no	no	NA
TBC1D9B	HGNC:29097	MGI:1924045	-	-	yes	no	no	no	NA
TBCA	HGNC:11579	MGI:107549	-	-	no	no	no	no	NA
TBCB	HGNC:1989	MGI:1913661	-	-	yes	no	no	no	NA
TBCC	HGNC:11580	MGI:1919976	-	-	yes	no	no	no	NA
TBCCD1	HGNC:25546	MGI:1917823	-	-	yes	no	no	no	NA
TBCD	HGNC:11581	MGI:1919686	OMIM:617193|ORPHA:496641	Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum|Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	yes	yes	yes	no	NA
TBCE	HGNC:11582	MGI:1917680	OMIM:617207|OMIM:241410|OMIM:244460|ORPHA:2323|ORPHA:496756|ORPHA:93324	Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy|Hypoparathyroidism-Retardation-Dysmorphism Syndrome|Kenny-Caffey Syndrome, Type 1|Sanjad-Sakati Syndrome|Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome|Autosomal Recessive Kenny-Caffey Syndrome	yes	yes	yes	yes	30.92
TBCEL	HGNC:28115	MGI:1925543	-	-	yes	no	no	no	NA
TBCK	HGNC:28261	MGI:2445052	OMIM:616900|ORPHA:488632	Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3|Tbck-Related Intellectual Disability Syndrome	yes	yes	yes	no	NA
TBK1	HGNC:11584	MGI:1929658	OMIM:616439|OMIM:617900|ORPHA:803|ORPHA:275872|ORPHA:1930	Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4|Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8|Amyotrophic Lateral Sclerosis|Frontotemporal Dementia With Motor Neuron Disease|Herpes Simplex Virus Encephalitis	no	no	no	no	NA
TBKBP1	HGNC:30140	MGI:1920424	-	-	yes	no	no	no	NA
TBL1XR1	HGNC:29529	MGI:2441730	OMIM:616944|OMIM:602342|ORPHA:520|ORPHA:487825	Intellectual Developmental Disorder, Autosomal Dominant 41|Pierpont Syndrome|Acute Promyelocytic Leukemia	yes	yes	yes	yes	34.475
TBL2	HGNC:11586	MGI:1351652	ORPHA:904	Williams Syndrome	no	no	no	no	NA
TBL3	HGNC:11587	MGI:2384863	-	-	no	no	no	no	NA
TBP	HGNC:11588	MGI:101838	OMIM:607136|OMIM:168600|ORPHA:98759	Spinocerebellar Ataxia 17|Parkinson Disease, Late-Onset|Spinocerebellar Ataxia Type 17	no	no	no	no	NA
TBPL1	HGNC:11589	MGI:1339946	-	-	no	no	no	no	NA
TBPL2	HGNC:19841	MGI:2684058	-	-	yes	no	no	no	NA
TBR1	HGNC:11590	MGI:107404	OMIM:606053|ORPHA:1617|ORPHA:528084	Intellectual Developmental Disorder With Autism And Speech Delay|2Q24 Microdeletion Syndrome|Non-Specific Syndromic Intellectual Disability	yes	yes	yes	yes	60.655
TBRG1	HGNC:29551	MGI:1100877	-	-	no	no	no	no	NA
TBRG4	HGNC:17443	MGI:1100868	-	-	no	no	no	no	NA
TBX1	HGNC:11592	MGI:98493	OMIM:217095|OMIM:188400|OMIM:187500|OMIM:192430|ORPHA:567|ORPHA:1727|ORPHA:3303	Conotruncal Heart Malformations|Digeorge Syndrome|Tetralogy Of Fallot|Velocardiofacial Syndrome|22Q11.2 Deletion Syndrome|22Q11.2 Duplication Syndrome	yes	yes	yes	yes	40.135
TBX10	HGNC:11593	MGI:1261436	-	-	yes	no	no	no	NA
TBX15	HGNC:11594	MGI:1277234	OMIM:260660|ORPHA:93333	Cousin Syndrome|Pelviscapular Dysplasia	no	no	no	no	NA
TBX18	HGNC:11595	MGI:1923615	OMIM:143400	Congenital Anomalies Of Kidney And Urinary Tract 2	no	no	no	no	NA
TBX19	HGNC:11596	MGI:1891158	OMIM:201400|ORPHA:199296	Acth Deficiency, Isolated|Congenital Isolated Acth Deficiency	no	no	no	no	NA
TBX2	HGNC:11597	MGI:98494	OMIM:618223	Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	no	no	no	no	NA
TBX20	HGNC:11598	MGI:1888496	OMIM:611363|ORPHA:99103	Atrial Septal Defect 4|Atrial Septal Defect, Ostium Secundum Type	yes	yes	yes	yes	40.015
TBX21	HGNC:11599	MGI:1888984	OMIM:619630|OMIM:208550	Immunodeficiency 88|Asthma, Nasal Polyps, And Aspirin Intolerance	no	no	no	no	NA
TBX22	HGNC:11600	MGI:2389465	OMIM:302905|OMIM:303400|ORPHA:921|ORPHA:324601	Abruzzo-Erickson Syndrome|Cleft Palate With Or Without Ankyloglossia, X-Linked|X-Linked Cleft Palate And Ankyloglossia	yes	yes	yes	no	NA
TBX3	HGNC:11602	MGI:98495	OMIM:181450|ORPHA:3138	Ulnar-Mammary Syndrome	yes	yes	yes	yes	16.58
TBX4	HGNC:11603	MGI:102556	OMIM:601360|OMIM:147891|ORPHA:1509|ORPHA:261279|ORPHA:275777|ORPHA:238578	Amelia, Posterior, With Pelvic And Pulmonary Hypoplasia Syndrome|Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension|Coxopodopatellar Syndrome|17Q23.1Q23.2 Microdeletion Syndrome|Heritable Pulmonary Arterial Hypertension|Familial Clubfoot Due To 17Q23.1Q23.2 Microduplication	yes	yes	yes	yes	18.77
TBX5	HGNC:11604	MGI:102541	OMIM:142900|ORPHA:392|ORPHA:101016	Holt-Oram Syndrome|Romano-Ward Syndrome	no	no	no	no	NA
TBX6	HGNC:11605	MGI:102539	OMIM:122600|ORPHA:1797	Spondylocostal Dysostosis 5|Autosomal Dominant Spondylocostal Dysostosis	no	no	no	no	NA
TBXA2R	HGNC:11608	MGI:98496	OMIM:614009|ORPHA:220443	Bleeding Disorder, Platelet-Type, 13, Susceptibility To|Bleeding Diathesis Due To Thromboxane Synthesis Deficiency	no	no	no	no	NA
TBXAS1	HGNC:11609	MGI:98497	OMIM:231095|ORPHA:1802	Ghosal Hematodiaphyseal Dysplasia	no	no	no	no	NA
TBXT	HGNC:11515	MGI:98472	OMIM:182940|OMIM:615709|ORPHA:178|ORPHA:397927	Neural Tube Defects, Susceptibility To|Sacral Agenesis With Vertebral Anomalies|Chordoma|Sacral Agenesis-Abnormal Ossification Of The Vertebral Bodies-Persistent Notochordal Canal Syndrome	no	no	no	no	NA
TC2N	HGNC:19859	MGI:1921663	-	-	no	no	no	no	NA
TCAF1	HGNC:22201	MGI:1914665	-	-	no	no	no	no	NA
TCAF2	HGNC:26878	MGI:2385258	-	-	yes	no	no	no	NA
TCAIM	HGNC:25241	MGI:1196217	-	-	yes	no	no	no	NA
TCAP	HGNC:11610	MGI:1330233	OMIM:607487|OMIM:601954|ORPHA:154|ORPHA:155|ORPHA:34514	Cardiomyopathy, Familial Hypertrophic, 25|Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7|Familial Isolated Dilated Cardiomyopathy|Non Rare In Europe: Familial Isolated Hypertrophic Cardiomyopathy|Telethonin-Related Limb-Girdle Muscular Dystrophy R7	no	no	no	no	NA
TCEA1	HGNC:11612	MGI:1196624	-	-	no	no	no	no	NA
TCEA2	HGNC:11614	MGI:107368	-	-	yes	no	no	no	NA
TCEA3	HGNC:11615	MGI:1196908	-	-	no	no	no	no	NA
TCEAL1	HGNC:11616	MGI:2385317	OMIM:301094	Hijazi-Reis Syndrome	yes	yes	yes	no	NA
TCEAL7	HGNC:28336	MGI:1915746	-	-	yes	no	no	no	NA
TCEAL8	HGNC:28683	MGI:1913934	-	-	yes	no	no	no	NA
TCEAL9	HGNC:30084	MGI:109567	-	-	yes	no	no	no	NA
TCEANC	HGNC:28277	MGI:2685236	-	-	no	no	no	no	NA
TCEANC2	HGNC:26494	MGI:1913776	-	-	no	no	no	no	NA
TCERG1	HGNC:15630	MGI:1926421	-	-	yes	no	no	no	NA
TCERG1L	HGNC:23533	MGI:1917821	-	-	yes	no	no	no	NA
TCF12	HGNC:11623	MGI:101877	OMIM:615314|OMIM:619718|ORPHA:209916|ORPHA:35099	Craniosynostosis 3|Hypogonadotropic Hypogonadism 26 With Or Without Anosmia|Extraskeletal Myxoid Chondrosarcoma|Non-Syndromic Bicoronal Craniosynostosis	no	no	no	no	NA
TCF15	HGNC:11627	MGI:104664	-	-	no	no	no	no	NA
TCF19	HGNC:11629	MGI:103180	-	-	yes	no	no	no	NA
TCF20	HGNC:11631	MGI:108399	OMIM:618430|ORPHA:528084	Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities|Non-Specific Syndromic Intellectual Disability	yes	yes	yes	yes	16.645
TCF21	HGNC:11632	MGI:1202715	-	-	yes	no	no	no	NA
TCF23	HGNC:18602	MGI:1934960	-	-	yes	no	no	no	NA
TCF24	HGNC:32275	MGI:3780500	-	-	no	no	no	no	NA
TCF25	HGNC:29181	MGI:1914105	-	-	yes	no	no	no	NA
TCF3	HGNC:11633	MGI:98510	OMIM:616941|OMIM:619824|ORPHA:33110|ORPHA:585956|ORPHA:641375	Agammaglobulinemia 8A, Autosomal Dominant|Agammaglobulinemia 8B, Autosomal Recessive|Autosomal Agammaglobulinemia|B-Lymphoblastic Leukemia/Lymphoma With T(1;19)(Q23;P13.3)|B-Lymphoblastic Leukemia/Lymphoma With T(17;19)	no	no	no	no	NA
TCF4	HGNC:11634	MGI:98506	OMIM:613267|OMIM:610954|ORPHA:178469|ORPHA:171|ORPHA:2896|ORPHA:98974	Corneal Dystrophy, Fuchs Endothelial, 3|Pitt-Hopkins Syndrome|Autosomal Dominant Non-Syndromic Intellectual Disability|Primary Sclerosing Cholangitis|Fuchs Endothelial Corneal Dystrophy	yes	yes	yes	no	NA
TCF7	HGNC:11639	MGI:98507	-	-	no	no	no	no	NA
TCF7L1	HGNC:11640	MGI:1202876	-	-	yes	no	no	no	NA
TCF7L2	HGNC:11641	MGI:1202879	OMIM:125853|ORPHA:528084	Type 2 Diabetes Mellitus|Non-Specific Syndromic Intellectual Disability	yes	yes	yes	no	NA
TCFL5	HGNC:11646	MGI:2672878	-	-	no	no	no	no	NA
TCHH	HGNC:11791	MGI:2177944	OMIM:617252	Uncombable Hair Syndrome 3	yes	yes	yes	no	NA
TCHHL1	HGNC:31796	MGI:1918575	-	-	yes	no	no	no	NA
TCHP	HGNC:28135	MGI:1925082	-	-	yes	no	no	no	NA
TCIM	HGNC:1357	MGI:1916318	-	-	no	no	no	no	NA
TCIRG1	HGNC:11647	MGI:1350931	OMIM:259700|ORPHA:486|ORPHA:1782|ORPHA:667|ORPHA:210110	Osteopetrosis, Autosomal Recessive 1|Autosomal Dominant Severe Congenital Neutropenia|Dysosteosclerosis|Autosomal Recessive Malignant Osteopetrosis|Intermediate Osteopetrosis	no	no	no	no	NA
TCL1A	HGNC:11648	MGI:1097166	ORPHA:99861	Precursor T-Cell Acute Lymphoblastic Leukemia	no	no	no	no	NA
TCN2	HGNC:11653	MGI:98534	OMIM:275350|ORPHA:859	Transcobalamin Ii Deficiency|Transcobalamin Deficiency	no	no	no	no	NA
TCOF1	HGNC:11654	MGI:892003	OMIM:154500|ORPHA:861	Treacher Collins Syndrome 1|Treacher-Collins Syndrome	no	no	no	no	NA
TCP1	HGNC:11655	MGI:98535	-	-	no	no	no	no	NA
TCP11	HGNC:11658	MGI:98544	-	-	yes	no	no	no	NA
TCP11L1	HGNC:25655	MGI:2444263	-	-	no	no	no	no	NA
TCP11L2	HGNC:28627	MGI:2444679	-	-	yes	no	no	no	NA
TCP11X2	HGNC:48335	MGI:1919091	-	-	yes	no	no	no	NA
TCTA	HGNC:11692	MGI:1918829	-	-	no	no	no	no	NA
TCTE1	HGNC:11693	MGI:98640	-	-	yes	no	no	no	NA
TCTN1	HGNC:26113	MGI:3603820	OMIM:614173|ORPHA:564|ORPHA:475	Joubert Syndrome 13|Meckel Syndrome|Joubert Syndrome	yes	yes	yes	yes	54.76
TCTN2	HGNC:25774	MGI:1915228	OMIM:613885|OMIM:616654|ORPHA:564|ORPHA:475	Meckel Syndrome, Type 8|Joubert Syndrome 24|Meckel Syndrome|Joubert Syndrome	no	no	no	no	NA
TCTN3	HGNC:24519	MGI:1914840	OMIM:614815|OMIM:258860|ORPHA:564|ORPHA:475|ORPHA:2754|ORPHA:2753	Joubert Syndrome 18|Orofaciodigital Syndrome Iv|Meckel Syndrome|Joubert Syndrome|Orofaciodigital Syndrome Type 6|Orofaciodigital Syndrome Type 4	yes	yes	yes	yes	52.035
TDG	HGNC:11700	MGI:108247	-	-	no	no	no	no	NA
TDO2	HGNC:11708	MGI:1928486	OMIM:600627|ORPHA:2224	Hypertryptophanemia	yes	yes	yes	no	NA
TDP1	HGNC:18884	MGI:1920036	OMIM:607250|ORPHA:94124	Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1|Spinocerebellar Ataxia With Axonal Neuropathy Type 1	yes	yes	yes	no	NA
TDP2	HGNC:17768	MGI:1860486	OMIM:616949|ORPHA:404493	Spinocerebellar Ataxia, Autosomal Recessive 23|Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency	no	no	no	no	NA
TDRD1	HGNC:11712	MGI:1933218	-	-	no	no	no	no	NA
TDRD12	HGNC:25044	MGI:1919231	-	-	no	no	no	no	NA
TDRD3	HGNC:20612	MGI:2444023	-	-	yes	no	no	no	NA
TDRD5	HGNC:20614	MGI:2684949	-	-	no	no	no	no	NA
TDRD6	HGNC:21339	MGI:2679727	-	-	no	no	no	no	NA
TDRD7	HGNC:30831	MGI:2140279	OMIM:613887	Cataract 36	no	no	no	no	NA
TDRD9	HGNC:20122	MGI:1921941	OMIM:618110|ORPHA:399805	Spermatogenic Failure 30|Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	no	no	no	no	NA
TDRKH	HGNC:11713	MGI:1919884	-	-	yes	no	no	no	NA
TDRP	HGNC:26951	MGI:1919398	-	-	yes	no	no	no	NA
TEAD1	HGNC:11714	MGI:101876	OMIM:108985|ORPHA:86813	Sveinsson Chorioretinal Atrophy|Helicoid Peripapillary Chorioretinal Degeneration	yes	yes	yes	yes	59.76
TEAD2	HGNC:11715	MGI:104904	-	-	no	no	no	no	NA
TEAD3	HGNC:11716	MGI:109241	-	-	yes	no	no	no	NA
TEAD4	HGNC:11717	MGI:106907	-	-	no	no	no	no	NA
TEC	HGNC:11719	MGI:98662	-	-	no	no	no	no	NA
TECPR1	HGNC:22214	MGI:1917631	-	-	no	no	no	no	NA
TECPR2	HGNC:19957	MGI:2144865	OMIM:615031|ORPHA:320385	Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay|Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	yes	yes	yes	yes	28.05
TECR	HGNC:4551	MGI:1915408	OMIM:614020|ORPHA:88616	Intellectual Developmental Disorder, Autosomal Recessive 14|Autosomal Recessive Non-Syndromic Intellectual Disability	yes	yes	yes	yes	23.88
TECRL	HGNC:27365	MGI:2444966	OMIM:614021|ORPHA:3286	Ventricular Tachycardia, Catecholaminergic Polymorphic, 3|Catecholaminergic Polymorphic Ventricular Tachycardia	yes	yes	yes	no	NA
TECTA	HGNC:11720	MGI:109575	OMIM:601543|OMIM:603629|ORPHA:90635|ORPHA:90636	Deafness, Autosomal Dominant 12|Deafness, Autosomal Recessive 21|Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	no	no	no	no	NA
TECTB	HGNC:11721	MGI:109574	-	-	no	no	no	no	NA
TEDC1	HGNC:20127	MGI:2144738	-	-	yes	no	no	no	NA
TEDC2	HGNC:25849	MGI:1919266	-	-	yes	no	no	no	NA
TEF	HGNC:11722	MGI:98663	-	-	no	no	no	no	NA
TEFM	HGNC:26223	MGI:1915800	OMIM:620451	Combined Oxidative Phosphorylation Deficiency 58	no	no	no	no	NA
TEK	HGNC:11724	MGI:98664	OMIM:617272|OMIM:600195|ORPHA:1059|ORPHA:2451|ORPHA:98976	Glaucoma 3, Primary Congenital, E|Venous Malformations, Multiple Cutaneous And Mucosal|Blue Rubber Bleb Nevus|Mucocutaneous Venous Malformations|Congenital Glaucoma	yes	yes	yes	no	NA
TEKT1	HGNC:15534	MGI:1333819	-	-	yes	no	no	no	NA
TEKT2	HGNC:11725	MGI:1346335	-	-	no	no	no	no	NA
TEKT3	HGNC:14293	MGI:1918312	OMIM:620277	Spermatogenic Failure 81	no	no	no	no	NA
TEKT4	HGNC:31012	MGI:1919090	-	-	no	no	no	no	NA
TEKT5	HGNC:26554	MGI:1917676	-	-	yes	no	no	no	NA
TEKTIP1	HGNC:34496	MGI:1921072	-	-	no	no	no	no	NA
TEKTL1	HGNC:26866	MGI:1918226	-	-	no	no	no	no	NA
TELO2	HGNC:29099	MGI:1918968	OMIM:616954|ORPHA:488642	You-Hoover-Fong Syndrome|Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	yes	yes	yes	yes	12.33
TEN1	HGNC:37242	MGI:1916785	-	-	yes	no	no	no	NA
TENM1	HGNC:8117	MGI:1345185	ORPHA:88620	Isolated Congenital Anosmia	yes	yes	no	no	NA
TENM2	HGNC:29943	MGI:1345184	-	-	no	no	no	no	NA
TENM3	HGNC:29944	MGI:1345183	OMIM:615145|ORPHA:98938	Microphthalmia, Isolated, With Coloboma 9|Colobomatous Microphthalmia	no	no	no	no	NA
TENM4	HGNC:29945	MGI:2447063	OMIM:616736|ORPHA:862	Tremor, Hereditary Essential, 5|Non Rare In Europe: Hereditary Essential Tremor	yes	yes	yes	no	NA
TENT2	HGNC:26776	MGI:2140950	-	-	no	no	no	no	NA
TENT4A	HGNC:16705	MGI:2682295	-	-	yes	no	no	no	NA
TENT4B	HGNC:30758	MGI:1917820	-	-	no	no	no	no	NA
TENT5A	HGNC:18345	MGI:2670964	OMIM:617952|ORPHA:216812	Osteogenesis Imperfecta, Type Xviii|Osteogenesis Imperfecta Type 3	yes	yes	yes	yes	52.43
TENT5B	HGNC:28273	MGI:2140500	-	-	no	no	no	no	NA
TENT5C	HGNC:24712	MGI:1921895	-	-	yes	no	no	no	NA
TENT5D	HGNC:28399	MGI:2685223	-	-	no	no	no	no	NA
TEP1	HGNC:11726	MGI:109573	-	-	yes	no	no	no	NA
TEPSIN	HGNC:26458	MGI:1926027	-	-	yes	no	no	no	NA
TERB1	HGNC:26675	MGI:2443187	OMIM:619646|ORPHA:399805	Spermatogenic Failure 60|Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	yes	yes	yes	yes	36.96
TERB2	HGNC:28520	MGI:1921651	OMIM:619645|ORPHA:399805	Spermatogenic Failure 59|Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	no	no	no	no	NA
TERF1	HGNC:11728	MGI:109634	-	-	no	no	no	no	NA
TERF2	HGNC:11729	MGI:1195972	-	-	no	no	no	no	NA
TERF2IP	HGNC:19246	MGI:1929871	ORPHA:618	Familial Melanoma	yes	yes	yes	yes	36.585
TERT	HGNC:11730	MGI:1202709	OMIM:601626|OMIM:613989|OMIM:614742|OMIM:615134|ORPHA:1775|ORPHA:146|ORPHA:2495|ORPHA:3322|ORPHA:618|ORPHA:1501|ORPHA:457246|ORPHA:2032|ORPHA:88	Leukemia, Acute Myeloid|Dyskeratosis Congenita, Autosomal Dominant 2|Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1|Melanoma, Cutaneous Malignant, Susceptibility To, 9|Dyskeratosis Congenita|Differentiated Thyroid Carcinoma|Meningioma|Hoyeraal-Hreidarsson Syndrome|Familial Melanoma|Adrenocortical Carcinoma|Clear Cell Sarcoma Of Kidney|Idiopathic Pulmonary Fibrosis|Idiopathic Aplastic Anemia	no	no	no	no	NA
TES	HGNC:14620	MGI:105081	-	-	no	no	no	no	NA
TESC	HGNC:26065	MGI:1930803	-	-	no	no	no	no	NA
TESK1	HGNC:11731	MGI:1201675	-	-	yes	no	no	no	NA
TESK2	HGNC:11732	MGI:2385204	-	-	yes	no	no	no	NA
TESMIN	HGNC:7446	MGI:1340029	-	-	no	no	no	no	NA
TESPA1	HGNC:29109	MGI:1914846	-	-	yes	no	no	no	NA
TET1	HGNC:29484	MGI:1098693	-	-	yes	no	no	no	NA
TET2	HGNC:25941	MGI:2443298	OMIM:619126|OMIM:614286|ORPHA:3318|ORPHA:824|ORPHA:729|ORPHA:75564|ORPHA:86845|ORPHA:98826|ORPHA:98850|ORPHA:98849|ORPHA:100020|ORPHA:100019	Immunodeficiency 75 With Lymphoproliferation|Myelodysplastic Syndrome|Essential Thrombocythemia|Primary Myelofibrosis|Polycythemia Vera|Acquired Idiopathic Sideroblastic Anemia|Acute Myeloid Leukaemia With Myelodysplasia-Related Features|Refractory Anemia|Aggressive Systemic Mastocytosis|Systemic Mastocytosis With Associated Hematologic Neoplasm|Refractory Anemia With Excess Blasts Type 2|Refractory Anemia With Excess Blasts Type 1	no	no	no	no	NA
TET3	HGNC:28313	MGI:2446229	OMIM:618798|ORPHA:528084	Beck-Fahrner Syndrome|Non-Specific Syndromic Intellectual Disability	no	no	no	no	NA
TEX10	HGNC:25988	MGI:1344413	-	-	no	no	no	no	NA
TEX101	HGNC:30722	MGI:1930791	-	-	yes	no	no	no	NA
TEX11	HGNC:11733	MGI:1933237	OMIM:309120|ORPHA:399805	Spermatogenic Failure, X-Linked, 2|Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	no	no	no	no	NA
TEX12	HGNC:11734	MGI:1913904	-	-	no	no	no	no	NA
TEX13A	HGNC:11735	MGI:1915194	-	-	no	no	no	no	NA
TEX13B	HGNC:11736	MGI:1890544	-	-	yes	no	no	no	NA
TEX13C	HGNC:52277	MGI:2685208	-	-	no	no	no	no	NA
TEX14	HGNC:11737	MGI:1933227	OMIM:617707|ORPHA:399805	Spermatogenic Failure 23|Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	no	no	no	no	NA
TEX15	HGNC:11738	MGI:1934816	OMIM:617960|ORPHA:399805	Spermatogenic Failure 25|Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	no	no	no	no	NA
TEX2	HGNC:30884	MGI:102465	-	-	yes	no	no	no	NA
TEX22	HGNC:40026	MGI:1922921	-	-	no	no	no	no	NA
TEX26	HGNC:28622	MGI:1923110	-	-	no	no	no	no	NA
TEX261	HGNC:30712	MGI:1096575	-	-	yes	no	no	no	NA
TEX264	HGNC:30247	MGI:1096570	-	-	no	no	no	no	NA
TEX28	HGNC:2563	MGI:2686384	-	-	no	no	no	no	NA
TEX29	HGNC:20370	MGI:1922778	-	-	yes	no	no	no	NA
TEX30	HGNC:25188	MGI:1922873	-	-	no	no	no	no	NA
TEX35	HGNC:25366	MGI:1920685	-	-	no	no	no	no	NA
TEX36	HGNC:31653	MGI:1921058	-	-	yes	no	no	no	NA
TEX38	HGNC:29589	MGI:1922423	-	-	yes	no	no	no	NA
TEX44	HGNC:28563	MGI:1919113	-	-	no	no	no	no	NA
TEX46	HGNC:44651	MGI:1914913	-	-	no	no	no	no	NA
TEX47	HGNC:22402	MGI:1918170	-	-	no	no	no	no	NA
TEX48	HGNC:52393	MGI:1922774	-	-	no	no	no	no	NA
TEX50	HGNC:52382	MGI:1922183	-	-	no	no	no	no	NA
TEX52	HGNC:53643	MGI:1918399	-	-	no	no	no	no	NA
TEX55	HGNC:26553	MGI:1921913	-	-	no	no	no	no	NA
TEX9	HGNC:29585	MGI:1201610	-	-	no	no	no	no	NA
TF	HGNC:11740	MGI:98821	OMIM:209300|ORPHA:1195	Atransferrinemia|Congenital Atransferrinemia	yes	yes	yes	yes	49.945
TFAM	HGNC:11741	MGI:107810	OMIM:617156	Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	no	no	no	no	NA
TFAP2A	HGNC:11742	MGI:104671	OMIM:113620|ORPHA:1297	Branchiooculofacial Syndrome|Branchio-Oculo-Facial Syndrome	no	no	no	no	NA
TFAP2B	HGNC:11743	MGI:104672	OMIM:169100|OMIM:617035|ORPHA:466729|ORPHA:46627	Char Syndrome|Patent Ductus Arteriosus 2|Familial Patent Arterial Duct	yes	yes	yes	no	NA
TFAP2C	HGNC:11744	MGI:106032	-	-	no	no	no	no	NA
TFAP2D	HGNC:15581	MGI:2153466	-	-	no	no	no	no	NA
TFAP2E	HGNC:30774	MGI:2679630	-	-	no	no	no	no	NA
TFAP4	HGNC:11745	MGI:103239	-	-	yes	no	no	no	NA
TFB1M	HGNC:17037	MGI:2146851	ORPHA:90641	Rare Mitochondrial Non-Syndromic Sensorineural Deafness	no	no	no	no	NA
TFB2M	HGNC:18559	MGI:107937	-	-	no	no	no	no	NA
TFCP2	HGNC:11748	MGI:98509	-	-	no	no	no	no	NA
TFCP2L1	HGNC:17925	MGI:2444691	-	-	no	no	no	no	NA
TFDP2	HGNC:11751	MGI:107167	-	-	no	no	no	no	NA
TFE3	HGNC:11752	MGI:98511	OMIM:301066|OMIM:300854|ORPHA:163699|ORPHA:157791|ORPHA:319308	Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies|Renal Cell Carcinoma, Xp11-Associated|Alveolar Soft Tissue Sarcoma|Epithelioid Hemangioendothelioma|Mit Family Translocation Renal Cell Carcinoma	no	no	no	no	NA
TFEB	HGNC:11753	MGI:103270	ORPHA:319308	Mit Family Translocation Renal Cell Carcinoma	yes	yes	no	no	NA
TFEC	HGNC:11754	MGI:1333760	-	-	yes	no	no	no	NA
TFF1	HGNC:11755	MGI:88135	-	-	yes	no	no	no	NA
TFF2	HGNC:11756	MGI:1306805	-	-	no	no	no	no	NA
TFF3	HGNC:11757	MGI:104638	-	-	no	no	no	no	NA
TFG	HGNC:11758	MGI:1338041	OMIM:615658|OMIM:604484|ORPHA:146|ORPHA:209916|ORPHA:435819|ORPHA:431329|ORPHA:90117	Spastic Paraplegia 57, Autosomal Recessive|Neuropathy, Hereditary Motor And Sensory, Okinawa Type|Differentiated Thyroid Carcinoma|Extraskeletal Myxoid Chondrosarcoma|Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Tfg Mutation|Autosomal Recessive Spastic Paraplegia Type 57|Hereditary Motor And Sensory Neuropathy, Okinawa Type	no	no	no	no	NA
TFIP11	HGNC:17165	MGI:1930075	-	-	no	no	no	no	NA
TFPI	HGNC:11760	MGI:1095418	-	-	no	no	no	no	NA
TFPI2	HGNC:11761	MGI:108543	-	-	yes	no	no	no	NA
TFPT	HGNC:13630	MGI:1916964	-	-	no	no	no	no	NA
TFR2	HGNC:11762	MGI:1354956	OMIM:604250|ORPHA:225123|ORPHA:648581	Hemochromatosis, Type 3|Tfr2-Related Hemochromatosis|Digenic Hemochromatosis	yes	yes	yes	yes	58.365
TFRC	HGNC:11763	MGI:98822	OMIM:616740|ORPHA:476113	Immunodeficiency 46|Combined Immunodeficiency Due To Tfrc Deficiency	yes	yes	yes	yes	49.41
TG	HGNC:11764	MGI:98733	OMIM:274700|OMIM:608175|ORPHA:95716	Thyroid Dyshormonogenesis 3|Autoimmune Thyroid Disease, Susceptibility To, 3|Familial Thyroid Dyshormonogenesis	yes	yes	yes	yes	48.17
TGDS	HGNC:20324	MGI:1923605	OMIM:616145|ORPHA:1388	Catel-Manzke Syndrome	yes	yes	yes	yes	30.7
TGFA	HGNC:11765	MGI:98724	ORPHA:2227|ORPHA:99798	Non Rare In Europe: Hypodontia|Oligodontia	no	no	no	no	NA
TGFB1	HGNC:11766	MGI:98725	OMIM:131300|OMIM:219700|OMIM:618213|ORPHA:586|ORPHA:1328|ORPHA:565788	Camurati-Engelmann Disease|Cystic Fibrosis|Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy|Infantile Inflammatory Bowel Disease With Neurological Involvement	no	no	no	no	NA
TGFB1I1	HGNC:11767	MGI:102784	-	-	yes	no	no	no	NA
TGFB2	HGNC:11768	MGI:98726	OMIM:614816|ORPHA:91387	Loeys-Dietz Syndrome 4|Familial Thoracic Aortic Aneurysm And Aortic Dissection	no	no	no	no	NA
TGFB3	HGNC:11769	MGI:98727	OMIM:107970|OMIM:615582|ORPHA:293910|ORPHA:293899|ORPHA:293888|ORPHA:91387	Arrhythmogenic Right Ventricular Dysplasia, Familial, 1|Loeys-Dietz Syndrome 5|Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form|Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form|Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form|Familial Thoracic Aortic Aneurysm And Aortic Dissection	yes	yes	yes	no	NA
TGFBI	HGNC:11771	MGI:99959	OMIM:607541|OMIM:121900|OMIM:608470|OMIM:602082|OMIM:121820|OMIM:122200|OMIM:608471|ORPHA:98956|ORPHA:98964|ORPHA:98963|ORPHA:98962|ORPHA:98961|ORPHA:98960	Corneal Dystrophy, Avellino Type|Corneal Dystrophy, Groenouw Type I|Corneal Dystrophy, Reis-Bucklers Type|Corneal Dystrophy, Thiel-Behnke Type|Corneal Dystrophy, Epithelial Basement Membrane|Corneal Dystrophy, Lattice Type I|Corneal Dystrophy, Lattice Type Iiia|Epithelial Basement Membrane Dystrophy|Lattice Corneal Dystrophy Type I|Granular Corneal Dystrophy Type Ii|Granular Corneal Dystrophy Type I|Reis-Bücklers Corneal Dystrophy|Thiel-Behnke Corneal Dystrophy	no	no	no	no	NA
TGFBR1	HGNC:11772	MGI:98728	OMIM:609192|OMIM:132800|ORPHA:65748|ORPHA:60030|ORPHA:91387	Loeys-Dietz Syndrome 1|Multiple Self-Healing Squamous Epithelioma, Susceptibility To|Multiple Self-Healing Squamous Epithelioma|Loeys-Dietz Syndrome|Familial Thoracic Aortic Aneurysm And Aortic Dissection	no	no	no	no	NA
TGFBR2	HGNC:11773	MGI:98729	OMIM:614331|OMIM:133239|OMIM:610168|ORPHA:144|ORPHA:284973|ORPHA:60030|ORPHA:91387|ORPHA:99977	Colorectal Cancer, Hereditary Nonpolyposis, Type 6|Esophageal Cancer|Loeys-Dietz Syndrome 2|Lynch Syndrome|Marfan Syndrome Type 2|Loeys-Dietz Syndrome|Familial Thoracic Aortic Aneurysm And Aortic Dissection|Squamous Cell Carcinoma Of The Esophagus	yes	yes	yes	yes	39.925
TGFBR3	HGNC:11774	MGI:104637	ORPHA:231160	Familial Cerebral Saccular Aneurysm	yes	yes	yes	yes	28.55
TGFBR3L	HGNC:44152	MGI:3833469	-	-	yes	no	no	no	NA
TGFBRAP1	HGNC:16836	MGI:2447427	-	-	no	no	no	no	NA
TGIF1	HGNC:11776	MGI:1194497	OMIM:142946|ORPHA:280200|ORPHA:280195|ORPHA:220386|ORPHA:93926|ORPHA:93924|ORPHA:93925	Holoprosencephaly 4|Microform Holoprosencephaly|Septopreoptic Holoprosencephaly|Semilobar Holoprosencephaly|Midline Interhemispheric Variant Of Holoprosencephaly|Lobar Holoprosencephaly|Alobar Holoprosencephaly	no	no	no	no	NA
TGIF2	HGNC:15764	MGI:1915299	-	-	yes	no	no	no	NA
TGIF2LX	HGNC:18570	MGI:2387796	-	-	no	no	no	no	NA
TGM1	HGNC:11777	MGI:98730	OMIM:242300|ORPHA:313|ORPHA:281122|ORPHA:281127|ORPHA:79394|ORPHA:100976	Ichthyosis, Congenital, Autosomal Recessive 1|Lamellar Ichthyosis|Self-Improving Collodion Baby|Acral Self-Healing Collodion Baby|Congenital Ichthyosiform Erythroderma|Bathing Suit Ichthyosis	no	no	no	no	NA
TGM2	HGNC:11778	MGI:98731	-	-	no	no	no	no	NA
TGM3	HGNC:11779	MGI:98732	OMIM:617251|ORPHA:1410	Uncombable Hair Syndrome 2|Uncombable Hair Syndrome	yes	yes	yes	no	NA
TGM4	HGNC:11780	MGI:3027002	-	-	no	no	no	no	NA
TGM5	HGNC:11781	MGI:1921426	OMIM:609796|ORPHA:263534	Peeling Skin Syndrome 2|Acral Peeling Skin Syndrome	no	no	no	no	NA
TGM6	HGNC:16255	MGI:3044321	OMIM:613908|ORPHA:276193|ORPHA:319465	Spinocerebellar Ataxia 35|Spinocerebellar Ataxia Type 35|Inherited Acute Myeloid Leukemia	yes	yes	yes	no	NA
TGM7	HGNC:30790	MGI:2151164	-	-	no	no	no	no	NA
TGOLN2	HGNC:15450	MGI:105080	-	-	no	no	no	no	NA
TGS1	HGNC:17843	MGI:2151797	-	-	no	no	no	no	NA
TH	HGNC:11782	MGI:98735	OMIM:605407|ORPHA:101150	Segawa Syndrome, Autosomal Recessive|Autosomal Recessive Dopa-Responsive Dystonia	yes	yes	yes	yes	39.35
THADA	HGNC:19217	MGI:3039623	-	-	yes	no	no	no	NA
THAP1	HGNC:20856	MGI:1921004	OMIM:602629|ORPHA:98806	Dystonia 6, Torsion|Primary Dystonia, Dyt6 Type	yes	yes	yes	no	NA
THAP11	HGNC:23194	MGI:1930964	-	-	no	no	no	no	NA
THAP12	HGNC:9440	MGI:1920231	-	-	yes	no	no	no	NA
THAP2	HGNC:20854	MGI:1914066	-	-	no	no	no	no	NA
THAP3	HGNC:20855	MGI:1917126	-	-	no	no	no	no	NA
THAP4	HGNC:23187	MGI:1914276	-	-	no	no	no	no	NA
THAP7	HGNC:23190	MGI:1916259	-	-	yes	no	no	no	NA
THBD	HGNC:11784	MGI:98736	OMIM:614486|OMIM:612926|ORPHA:436169|ORPHA:544472	Thrombophilia Due To Thrombomodulin Defect|Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6|Thrombomodulin-Related Bleeding Disorder|Atypical Hemolytic Uremic Syndrome With Complement Gene Abnormality	yes	yes	yes	no	NA
THBS1	HGNC:11785	MGI:98737	-	-	yes	no	no	no	NA
THBS2	HGNC:11786	MGI:98738	OMIM:603932	Intervertebral Disc Disease	yes	yes	no	no	NA
THBS3	HGNC:11787	MGI:98739	-	-	no	no	no	no	NA
THBS4	HGNC:11788	MGI:1101779	-	-	no	no	no	no	NA
THEM4	HGNC:17947	MGI:1923028	-	-	no	no	no	no	NA
THEM5	HGNC:26755	MGI:1913448	-	-	no	no	no	no	NA
THEM6	HGNC:29656	MGI:1925301	-	-	no	no	no	no	NA
THEMIS	HGNC:21569	MGI:2443552	-	-	no	no	no	no	NA
THEMIS2	HGNC:16839	MGI:2446213	-	-	yes	no	no	no	NA
THG1L	HGNC:26053	MGI:1913878	OMIM:618800	Spinocerebellar Ataxia, Autosomal Recessive 28	yes	yes	yes	no	NA
THNSL1	HGNC:26160	MGI:2139347	-	-	no	no	no	no	NA
THNSL2	HGNC:25602	MGI:3041254	-	-	yes	no	no	no	NA
THOC1	HGNC:19070	MGI:1919668	OMIM:620280	Deafness, Autosomal Dominant 86	yes	yes	yes	no	NA
THOC3	HGNC:19072	MGI:1920916	-	-	yes	no	no	no	NA
THOC5	HGNC:19074	MGI:1351333	-	-	no	no	no	no	NA
THOC6	HGNC:28369	MGI:2677480	OMIM:613680|ORPHA:363444	Beaulieu-Boycott-Innes Syndrome|Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	yes	yes	yes	yes	28.06
THOC7	HGNC:29874	MGI:1913481	-	-	yes	no	no	no	NA
THOP1	HGNC:11793	MGI:1354165	-	-	yes	no	no	no	NA
THPO	HGNC:11795	MGI:101875	OMIM:620481|OMIM:187950|OMIM:620478|ORPHA:3319|ORPHA:329319|ORPHA:397692|ORPHA:71493	Amegakaryocytic Thrombocytopenia, Congenital, 2|Thrombocythemia 1|Thrombocytopenia 9|Congenital Amegakaryocytic Thrombocytopenia|Thrombocythemia With Distal Limb Defects|Hereditary Isolated Aplastic Anemia|Familial Thrombocytosis	yes	yes	yes	yes	58.05
THRA	HGNC:11796	MGI:98742	OMIM:614450|ORPHA:566231	Hypothyroidism, Congenital, Nongoitrous, 6|Resistance To Thyroid Hormone Due To A Mutation In Thyroid Hormone Receptor Alpha	yes	yes	yes	yes	37.805
THRAP3	HGNC:22964	MGI:2442637	-	-	no	no	no	no	NA
THRB	HGNC:11799	MGI:98743	OMIM:188570|OMIM:274300|OMIM:145650|ORPHA:566243	Thyroid Hormone Resistance, Generalized, Autosomal Dominant|Thyroid Hormone Resistance, Generalized, Autosomal Recessive|Thyroid Hormone Resistance, Selective Pituitary|Resistance To Thyroid Hormone Due To A Mutation In Thyroid Hormone Receptor Beta	yes	yes	yes	no	NA
THRSP	HGNC:11800	MGI:109126	-	-	no	no	no	no	NA
THSD1	HGNC:17754	MGI:1929096	OMIM:618734|OMIM:620244|ORPHA:231160|ORPHA:363999	Aneurysm, Intracranial Berry, 12|Lymphatic Malformation 13|Familial Cerebral Saccular Aneurysm|Non-Immune Hydrops Fetalis	yes	yes	yes	no	NA
THSD4	HGNC:25835	MGI:2672033	OMIM:619825|ORPHA:91387	Aortic Aneurysm, Familial Thoracic 12|Familial Thoracic Aortic Aneurysm And Aortic Dissection	yes	no	yes	no	NA
THSD7A	HGNC:22207	MGI:2685683	-	-	yes	no	no	no	NA
THSD7B	HGNC:29348	MGI:2443925	-	-	yes	no	no	no	NA
THTPA	HGNC:18987	MGI:2446078	-	-	yes	no	no	no	NA
THUMPD1	HGNC:23807	MGI:2444479	OMIM:619989	Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	no	no	no	no	NA
THUMPD2	HGNC:14890	MGI:1919417	-	-	no	no	no	no	NA
THUMPD3	HGNC:24493	MGI:1277973	-	-	no	no	no	no	NA
THY1	HGNC:11801	MGI:98747	-	-	no	no	no	no	NA
THYN1	HGNC:29560	MGI:1925112	-	-	yes	no	no	no	NA
TIA1	HGNC:11802	MGI:107914	OMIM:619133|OMIM:604454|ORPHA:603	Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia|Welander Distal Myopathy|Distal Myopathy, Welander Type	yes	no	yes	no	NA
TIAL1	HGNC:11804	MGI:107913	-	-	yes	no	no	no	NA
TIAM1	HGNC:11805	MGI:103306	OMIM:619908|ORPHA:528084	Neurodevelopmental Disorder With Language Delay And Seizures|Non-Specific Syndromic Intellectual Disability	yes	yes	yes	yes	25.375
TIAM2	HGNC:11806	MGI:1344338	-	-	no	no	no	no	NA
TICAM1	HGNC:18348	MGI:2147032	OMIM:614850|ORPHA:1930	Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6|Herpes Simplex Virus Encephalitis	no	no	no	no	NA
TICAM2	HGNC:21354	MGI:3040056	-	-	no	no	no	no	NA
TICRR	HGNC:28704	MGI:1924261	-	-	yes	no	no	no	NA
TIE1	HGNC:11809	MGI:99906	OMIM:619401	Lymphatic Malformation 11	no	no	no	no	NA
TIFA	HGNC:19075	MGI:2182965	-	-	yes	no	no	no	NA
TIFAB	HGNC:34024	MGI:2385852	-	-	yes	no	no	no	NA
TIGAR	HGNC:1185	MGI:2442752	-	-	yes	no	no	no	NA
TIGD2	HGNC:18333	MGI:1915390	-	-	no	no	no	no	NA
TIGD3	HGNC:18334	MGI:2681860	-	-	yes	no	no	no	NA
TIGD4	HGNC:18335	MGI:2685264	-	-	no	no	no	no	NA
TIGD5	HGNC:18336	MGI:2145902	-	-	no	no	no	no	NA
TIGIT	HGNC:26838	MGI:3642260	-	-	yes	no	no	no	NA
TIMD4	HGNC:25132	MGI:2445125	-	-	no	no	no	no	NA
TIMELESS	HGNC:11813	MGI:1321393	OMIM:620015	Advance Sleep Phase Syndrome, Familial, 4	yes	yes	yes	no	NA
TIMM10	HGNC:11814	MGI:1353429	-	-	no	no	no	no	NA
TIMM10B	HGNC:4022	MGI:1315196	-	-	yes	no	no	no	NA
TIMM13	HGNC:11816	MGI:1353432	-	-	yes	no	no	no	NA
TIMM17A	HGNC:17315	MGI:1343131	-	-	no	no	no	no	NA
TIMM17B	HGNC:17310	MGI:1343176	-	-	yes	no	no	no	NA
TIMM21	HGNC:25010	MGI:1920595	-	-	no	no	no	no	NA
TIMM22	HGNC:17317	MGI:1929742	OMIM:618851	Combined Oxidative Phosphorylation Deficiency 43	yes	yes	yes	yes	23.84
TIMM23	HGNC:17312	MGI:1858317	-	-	no	no	no	no	NA
TIMM29	HGNC:25152	MGI:1917023	-	-	no	no	no	no	NA
TIMM44	HGNC:17316	MGI:1343262	-	-	no	no	no	no	NA
TIMM50	HGNC:23656	MGI:1913775	OMIM:617698|ORPHA:505216	3-Methylglutaconic Aciduria, Type Ix|3-Methylglutaconic Aciduria Type 9	yes	yes	yes	yes	29.48
TIMM8A	HGNC:11817	MGI:1353433	OMIM:304700|ORPHA:52368	Mohr-Tranebjaerg Syndrome	yes	yes	yes	no	NA
TIMM8B	HGNC:11818	MGI:1353424	-	-	no	no	no	no	NA
TIMM9	HGNC:11819	MGI:1353436	-	-	no	no	no	no	NA
TIMMDC1	HGNC:1321	MGI:1922139	OMIM:618251|ORPHA:2609	Mitochondrial Complex I Deficiency, Nuclear Type 31|Isolated Complex I Deficiency	yes	yes	yes	yes	17.995
TIMP1	HGNC:11820	MGI:98752	-	-	yes	no	no	no	NA
TIMP2	HGNC:11821	MGI:98753	-	-	yes	no	no	no	NA
TIMP3	HGNC:11822	MGI:98754	OMIM:136900|ORPHA:59181	Sorsby Fundus Dystrophy|Sorsby Pseudoinflammatory Fundus Dystrophy	yes	yes	yes	yes	64.365
TIMP4	HGNC:11823	MGI:109125	-	-	yes	no	no	no	NA
TINAG	HGNC:14599	MGI:1349477	-	-	no	no	no	no	NA
TINAGL1	HGNC:19168	MGI:2137617	-	-	no	no	no	no	NA
TINF2	HGNC:11824	MGI:107246	OMIM:613990|OMIM:268130|ORPHA:1775|ORPHA:3088|ORPHA:3322	Dyskeratosis Congenita, Autosomal Dominant 3|Revesz Syndrome|Dyskeratosis Congenita|Hoyeraal-Hreidarsson Syndrome	no	no	no	no	NA
TIPARP	HGNC:23696	MGI:2159210	-	-	yes	no	no	no	NA
TIPIN	HGNC:30750	MGI:1921571	-	-	no	no	no	no	NA
TIPRL	HGNC:30231	MGI:1915087	-	-	yes	no	no	no	NA
TIRAP	HGNC:17192	MGI:2152213	OMIM:614382|OMIM:611162|OMIM:607948	Bacteremia, Susceptibility To, 1|Malaria, Susceptibility To|Mycobacterium Tuberculosis, Susceptibility To	no	no	no	no	NA
TJAP1	HGNC:17949	MGI:1921344	-	-	yes	no	no	no	NA
TJP1	HGNC:11827	MGI:98759	-	-	no	no	no	no	NA
TJP2	HGNC:11828	MGI:1341872	OMIM:615878|OMIM:607748|ORPHA:238475|ORPHA:480483|ORPHA:90635	Cholestasis, Progressive Familial Intrahepatic, 4|Hypercholanemia, Familial 1|Familial Hypercholanemia|Progressive Familial Intrahepatic Cholestasis Type 4|Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	no	no	no	no	NA
TJP3	HGNC:11829	MGI:1351650	-	-	no	no	no	no	NA
TK1	HGNC:11830	MGI:98763	-	-	no	no	no	no	NA
TK2	HGNC:11831	MGI:1913266	OMIM:617069|OMIM:609560|ORPHA:254886|ORPHA:254875	Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3|Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)|Autosomal Recessive Progressive External Ophthalmoplegia|Mitochondrial Dna Depletion Syndrome, Myopathic Form	no	no	no	no	NA
TKFC	HGNC:24552	MGI:2385084	OMIM:618805|ORPHA:1369	Triokinase And Fmn Cyclase Deficiency Syndrome|Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	yes	yes	yes	yes	34.465
TKT	HGNC:11834	MGI:105992	OMIM:617044|ORPHA:488618	Short Stature, Developmental Delay, And Congenital Heart Defects|Transketolase Deficiency	yes	yes	yes	no	NA
TKTL1	HGNC:11835	MGI:1933244	-	-	no	no	no	no	NA
TKTL2	HGNC:25313	MGI:1921669	-	-	yes	no	no	no	NA
TLCD1	HGNC:25177	MGI:1915572	-	-	no	no	no	no	NA
TLCD2	HGNC:33522	MGI:1917141	-	-	no	no	no	no	NA
TLCD3A	HGNC:29646	MGI:2151840	-	-	no	no	no	no	NA
TLCD3B	HGNC:25295	MGI:1916202	OMIM:619531|ORPHA:1872	Cone-Rod Dystrophy 22|Cone Rod Dystrophy	yes	yes	yes	yes	57.18
TLCD4	HGNC:26477	MGI:1923195	-	-	no	no	no	no	NA
TLCD5	HGNC:28280	MGI:2685030	-	-	yes	no	no	no	NA
TLDC2	HGNC:16112	MGI:2686178	-	-	yes	no	no	no	NA
TLE1	HGNC:11837	MGI:104636	-	-	yes	no	no	no	NA
TLE2	HGNC:11838	MGI:104635	-	-	no	no	no	no	NA
TLE3	HGNC:11839	MGI:104634	-	-	yes	no	no	no	NA
TLE4	HGNC:11840	MGI:104633	-	-	yes	no	no	no	NA
TLE5	HGNC:307	MGI:95806	-	-	no	no	no	no	NA
TLE6	HGNC:30788	MGI:2149593	OMIM:616814	Oocyte/Zygote/Embryo Maturation Arrest 15	no	no	no	no	NA
TLE7	HGNC:53648	MGI:5439433	-	-	no	no	no	no	NA
TLK1	HGNC:11841	MGI:2441683	-	-	yes	no	no	no	NA
TLK2	HGNC:11842	MGI:1346023	OMIM:618050	Intellectual Developmental Disorder, Autosomal Dominant 57	yes	yes	yes	yes	18.85
TLL1	HGNC:11843	MGI:106923	OMIM:613087|ORPHA:99106|ORPHA:99103	Atrial Septal Defect 6|Atrial Septal Defect, Ostium Primum Type|Atrial Septal Defect, Ostium Secundum Type	no	no	no	no	NA
TLL2	HGNC:11844	MGI:1346044	-	-	no	no	no	no	NA
TLN1	HGNC:11845	MGI:1099832	-	-	no	no	no	no	NA
TLN2	HGNC:15447	MGI:1917799	-	-	no	no	no	no	NA
TLNRD1	HGNC:13519	MGI:1891420	-	-	no	no	no	no	NA
TLR1	HGNC:11847	MGI:1341295	OMIM:613223	Leprosy, Susceptibility To, 5	no	no	no	no	NA
TLR2	HGNC:11848	MGI:1346060	OMIM:114500|OMIM:246300|OMIM:607948	Colorectal Cancer|Leprosy, Susceptibility To, 3|Mycobacterium Tuberculosis, Susceptibility To	yes	no	yes	no	NA
TLR3	HGNC:11849	MGI:2156367	OMIM:609423|OMIM:613002|ORPHA:1930	Human Immunodeficiency Virus Type 1, Susceptibility To|Immunodeficiency 83, Susceptibility To Viral Infections|Herpes Simplex Virus Encephalitis	no	no	no	no	NA
TLR4	HGNC:11850	MGI:96824	ORPHA:117	Behçet Disease	yes	yes	yes	yes	30.92
TLR5	HGNC:11851	MGI:1858171	OMIM:608556|OMIM:615557|OMIM:601744	Legionnaire Disease, Susceptibility To|Melioidosis, Susceptibility To|Systemic Lupus Erythematosus, Susceptibility To, 1	no	no	no	no	NA
TLR6	HGNC:16711	MGI:1341296	-	-	no	no	no	no	NA
TLR7	HGNC:15631	MGI:2176882	OMIM:301051|OMIM:301080|ORPHA:536	Immunodeficiency 74, Covid19-Related, X-Linked|Systemic Lupus Erythematosus 17|Systemic Lupus Erythematosus	no	no	no	no	NA
TLR8	HGNC:15632	MGI:2176887	OMIM:301078	Immunodeficiency 98 With Autoinflammation, X-Linked	no	no	no	no	NA
TLR9	HGNC:15633	MGI:1932389	-	-	no	no	no	no	NA
TLX1	HGNC:5056	MGI:98769	ORPHA:99861	Precursor T-Cell Acute Lymphoblastic Leukemia	no	no	no	no	NA
TLX2	HGNC:5057	MGI:1350935	-	-	no	no	no	no	NA
TLX3	HGNC:13532	MGI:1351209	ORPHA:99861	Precursor T-Cell Acute Lymphoblastic Leukemia	no	no	no	no	NA
TM2D1	HGNC:24142	MGI:2137022	-	-	yes	no	no	no	NA
TM2D2	HGNC:24127	MGI:1916992	-	-	yes	no	no	no	NA
TM2D3	HGNC:24128	MGI:1915884	-	-	yes	no	no	no	NA
TM4SF1	HGNC:11853	MGI:104678	-	-	yes	no	no	no	NA
TM4SF19	HGNC:25167	MGI:3645933	-	-	yes	no	no	no	NA
TM4SF20	HGNC:26230	MGI:1913511	OMIM:615432	Specific Language Impairment 5	yes	yes	yes	no	NA
TM4SF4	HGNC:11856	MGI:2385173	-	-	yes	no	no	no	NA
TM4SF5	HGNC:11857	MGI:1922854	-	-	yes	no	no	no	NA
TM6SF1	HGNC:11860	MGI:1933209	-	-	no	no	no	no	NA
TM6SF2	HGNC:11861	MGI:1933210	-	-	yes	no	no	no	NA
TM7SF2	HGNC:11863	MGI:1920416	-	-	yes	no	no	no	NA
TM7SF3	HGNC:23049	MGI:1914873	-	-	no	no	no	no	NA
TM9SF1	HGNC:11864	MGI:1921390	-	-	yes	no	no	no	NA
TM9SF2	HGNC:11865	MGI:1915309	-	-	yes	no	no	no	NA
TM9SF3	HGNC:21529	MGI:1914262	-	-	yes	no	no	no	NA
TM9SF4	HGNC:30797	MGI:2139220	-	-	yes	no	no	no	NA
TMA16	HGNC:25638	MGI:1913532	-	-	no	no	no	no	NA
TMA7	HGNC:26932	MGI:1913417	-	-	no	no	no	no	NA
TMBIM1	HGNC:23410	MGI:1916910	-	-	no	no	no	no	NA
TMBIM4	HGNC:24257	MGI:1915462	-	-	no	no	no	no	NA
TMBIM6	HGNC:11723	MGI:99682	-	-	no	no	no	no	NA
TMC1	HGNC:16513	MGI:2151016	OMIM:606705|OMIM:600974|ORPHA:90635|ORPHA:90636	Deafness, Autosomal Dominant 36|Deafness, Autosomal Recessive 7|Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	yes	yes	yes	no	NA
TMC2	HGNC:16527	MGI:2151017	-	-	no	no	no	no	NA
TMC3	HGNC:22995	MGI:2669033	-	-	yes	no	no	no	NA
TMC4	HGNC:22998	MGI:2669035	-	-	yes	no	no	no	NA
TMC5	HGNC:22999	MGI:1921674	-	-	yes	no	no	no	NA
TMC6	HGNC:18021	MGI:1098686	OMIM:226400|ORPHA:302	Epidermodysplasia Verruciformis, Susceptibility To, 1|Epidermodysplasia Verruciformis	yes	yes	yes	no	NA
TMC7	HGNC:23000	MGI:2443317	-	-	yes	no	no	no	NA
TMC8	HGNC:20474	MGI:2669037	OMIM:618231|ORPHA:302	Epidermodysplasia Verruciformis, Susceptibility To, 2|Epidermodysplasia Verruciformis	yes	yes	yes	no	NA
TMCC1	HGNC:29116	MGI:2442368	-	-	no	no	no	no	NA
TMCC2	HGNC:24239	MGI:1916125	-	-	yes	no	no	no	NA
TMCC3	HGNC:29199	MGI:2442900	-	-	yes	no	no	no	NA
TMCO1	HGNC:18188	MGI:1921173	OMIM:213980|ORPHA:1394	Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1|Cerebrofaciothoracic Dysplasia	yes	yes	yes	no	NA
TMCO2	HGNC:23312	MGI:1916719	-	-	yes	no	no	no	NA
TMCO3	HGNC:20329	MGI:2444946	-	-	yes	no	no	no	NA
TMCO4	HGNC:27393	MGI:1924306	-	-	no	no	no	no	NA
TMCO5A	HGNC:28558	MGI:1914606	-	-	yes	no	no	no	NA
TMCO6	HGNC:28814	MGI:1919233	-	-	yes	no	no	no	NA
TMED1	HGNC:17291	MGI:106201	-	-	no	no	no	no	NA
TMED10	HGNC:16998	MGI:1915831	-	-	yes	no	no	no	NA
TMED2	HGNC:16996	MGI:1929269	-	-	no	no	no	no	NA
TMED3	HGNC:28889	MGI:1913361	-	-	yes	no	no	no	NA
TMED4	HGNC:22301	MGI:1915070	-	-	no	no	no	no	NA
TMED5	HGNC:24251	MGI:1921586	-	-	no	no	no	no	NA
TMED6	HGNC:28331	MGI:1913519	-	-	yes	no	no	no	NA
TMED7	HGNC:24253	MGI:1913926	-	-	no	no	no	no	NA
TMED8	HGNC:18633	MGI:1923480	-	-	no	no	no	no	NA
TMED9	HGNC:24878	MGI:1914761	-	-	no	no	no	no	NA
TMEFF1	HGNC:11866	MGI:1926810	-	-	no	no	no	no	NA
TMEFF2	HGNC:11867	MGI:1861735	-	-	no	no	no	no	NA
TMEM100	HGNC:25607	MGI:1915138	-	-	yes	no	no	no	NA
TMEM101	HGNC:28653	MGI:1923797	-	-	no	no	no	no	NA
TMEM102	HGNC:26722	MGI:1921591	-	-	no	no	no	no	NA
TMEM104	HGNC:25984	MGI:2444222	-	-	yes	no	no	no	NA
TMEM106A	HGNC:28288	MGI:1922056	-	-	no	no	no	no	NA
TMEM106B	HGNC:22407	MGI:1919150	OMIM:617964|ORPHA:275864|ORPHA:100069|ORPHA:100070	Leukodystrophy, Hypomyelinating, 16|Behavioral Variant Of Frontotemporal Dementia|Semantic Dementia|Progressive Non-Fluent Aphasia	yes	yes	yes	yes	25.55
TMEM106C	HGNC:28775	MGI:1196384	-	-	no	no	no	no	NA
TMEM107	HGNC:28128	MGI:1914160	OMIM:617562|OMIM:617563|ORPHA:564	Meckel Syndrome 13|Orofaciodigital Syndrome Xvi|Meckel Syndrome	no	no	no	no	NA
TMEM108	HGNC:28451	MGI:1932411	-	-	yes	no	no	no	NA
TMEM109	HGNC:28771	MGI:1915789	-	-	no	no	no	no	NA
TMEM11	HGNC:16823	MGI:2144726	-	-	yes	no	no	no	NA
TMEM114	HGNC:33227	MGI:1921970	-	-	yes	no	no	no	NA
TMEM115	HGNC:30055	MGI:1930765	-	-	yes	no	no	no	NA
TMEM116	HGNC:25084	MGI:1924712	-	-	yes	no	no	no	NA
TMEM117	HGNC:25308	MGI:2444580	-	-	no	no	no	no	NA
TMEM119	HGNC:27884	MGI:2385228	-	-	yes	no	no	no	NA
TMEM120A	HGNC:21697	MGI:2686991	-	-	no	no	no	no	NA
TMEM120B	HGNC:32008	MGI:3603158	-	-	no	no	no	no	NA
TMEM121	HGNC:20511	MGI:1916445	-	-	no	no	no	no	NA
TMEM121B	HGNC:1844	MGI:2136977	-	-	yes	no	no	no	NA
TMEM123	HGNC:30138	MGI:1919179	-	-	no	no	no	no	NA
TMEM125	HGNC:28275	MGI:1923409	-	-	no	no	no	no	NA
TMEM126A	HGNC:25382	MGI:1913521	OMIM:612989|ORPHA:227976	Optic Atrophy 7 With Or Without Auditory Neuropathy|Autosomal Recessive Optic Atrophy, Opa7 Type	yes	yes	yes	no	NA
TMEM126B	HGNC:30883	MGI:1915722	OMIM:618250|ORPHA:2609	Mitochondrial Complex I Deficiency, Nuclear Type 29|Isolated Complex I Deficiency	no	no	no	no	NA
TMEM127	HGNC:26038	MGI:1916720	OMIM:171300|ORPHA:404511|ORPHA:29072	Pheochromocytoma|Clear Cell Papillary Renal Cell Carcinoma|Hereditary Pheochromocytoma-Paraganglioma	yes	yes	yes	yes	38.35
TMEM128	HGNC:28201	MGI:1913559	-	-	no	no	no	no	NA
TMEM129	HGNC:25137	MGI:1915616	-	-	yes	no	no	no	NA
TMEM130	HGNC:25429	MGI:3607706	-	-	no	no	no	no	NA
TMEM131	HGNC:30366	MGI:1927110	-	-	yes	no	no	no	NA
TMEM131L	HGNC:29146	MGI:2443399	-	-	yes	no	no	no	NA
TMEM132A	HGNC:31092	MGI:2147810	-	-	yes	no	no	no	NA
TMEM132B	HGNC:29397	MGI:3609245	-	-	yes	no	no	no	NA
TMEM132C	HGNC:25436	MGI:2443061	-	-	no	no	no	no	NA
TMEM132D	HGNC:29411	MGI:3044963	-	-	no	no	no	no	NA
TMEM132E	HGNC:26991	MGI:2685490	OMIM:618481|ORPHA:90636	Deafness, Autosomal Recessive 99|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	yes	yes	yes	no	NA
TMEM134	HGNC:26142	MGI:1914240	-	-	no	no	no	no	NA
TMEM135	HGNC:26167	MGI:1920009	-	-	no	no	no	no	NA
TMEM138	HGNC:26944	MGI:1920232	OMIM:614465|ORPHA:2318	Joubert Syndrome 16|Joubert Syndrome With Oculorenal Defect	yes	yes	yes	no	NA
TMEM139	HGNC:22058	MGI:1924444	-	-	yes	no	no	no	NA
TMEM140	HGNC:21870	MGI:1915737	-	-	no	no	no	no	NA
TMEM141	HGNC:28211	MGI:1098773	-	-	no	no	no	no	NA
TMEM143	HGNC:25603	MGI:1917459	-	-	no	no	no	no	NA
TMEM144	HGNC:25633	MGI:1917902	-	-	yes	no	no	no	NA
TMEM145	HGNC:26912	MGI:3607779	-	-	yes	no	no	no	NA
TMEM147	HGNC:30414	MGI:1915011	OMIM:620075	Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	yes	yes	yes	yes	18.1
TMEM14A	HGNC:21076	MGI:1922962	-	-	yes	no	no	no	NA
TMEM14C	HGNC:20952	MGI:1913404	-	-	yes	no	no	no	NA
TMEM150A	HGNC:24677	MGI:2385244	-	-	no	no	no	no	NA
TMEM150B	HGNC:34415	MGI:2679718	-	-	yes	no	no	no	NA
TMEM150C	HGNC:37263	MGI:3041258	-	-	no	no	no	no	NA
TMEM151A	HGNC:28497	MGI:2147713	OMIM:620245	Episodic Kinesigenic Dyskinesia 3	no	no	no	no	NA
TMEM151B	HGNC:21315	MGI:2685169	-	-	yes	no	no	no	NA
TMEM154	HGNC:26489	MGI:2444725	-	-	no	no	no	no	NA
TMEM156	HGNC:26260	MGI:2685292	-	-	no	no	no	no	NA
TMEM158	HGNC:30293	MGI:1919559	-	-	no	no	no	no	NA
TMEM160	HGNC:26042	MGI:1916344	-	-	yes	no	no	no	NA
TMEM161A	HGNC:26020	MGI:2384577	-	-	no	no	no	no	NA
TMEM161B	HGNC:28483	MGI:1919995	-	-	yes	no	no	no	NA
TMEM163	HGNC:25380	MGI:1919410	OMIM:620243	Leukodystrophy, Hypomyelinating, 25	yes	yes	yes	no	NA
TMEM164	HGNC:26217	MGI:2148020	-	-	yes	no	no	no	NA
TMEM165	HGNC:30760	MGI:894407	OMIM:614727|ORPHA:314667	Congenital Disorder Of Glycosylation, Type Iik|Tmem165-Cdg	yes	yes	yes	no	NA
TMEM167A	HGNC:28330	MGI:1913324	-	-	yes	no	no	no	NA
TMEM167B	HGNC:30187	MGI:1914745	-	-	no	no	no	no	NA
TMEM168	HGNC:25826	MGI:1921794	-	-	no	no	no	no	NA
TMEM169	HGNC:25130	MGI:2442781	-	-	yes	no	no	no	NA
TMEM17	HGNC:26623	MGI:2144205	-	-	no	no	no	no	NA
TMEM170A	HGNC:29577	MGI:106426	-	-	no	no	no	no	NA
TMEM170B	HGNC:34244	MGI:3647046	-	-	yes	no	no	no	NA
TMEM171	HGNC:27031	MGI:2685751	-	-	yes	no	no	no	NA
TMEM174	HGNC:28187	MGI:1915594	-	-	yes	no	no	no	NA
TMEM175	HGNC:28709	MGI:1919642	-	-	yes	no	no	no	NA
TMEM176A	HGNC:24930	MGI:1913308	-	-	no	no	no	no	NA
TMEM176B	HGNC:29596	MGI:1916348	-	-	no	no	no	no	NA
TMEM177	HGNC:28143	MGI:1913593	-	-	yes	no	no	no	NA
TMEM178A	HGNC:28517	MGI:1915277	-	-	no	no	no	no	NA
TMEM178B	HGNC:44112	MGI:3647581	-	-	yes	no	no	no	NA
TMEM179	HGNC:20137	MGI:2144891	-	-	yes	no	no	no	NA
TMEM179B	HGNC:33744	MGI:1914956	-	-	no	no	no	no	NA
TMEM18	HGNC:25257	MGI:2387176	-	-	yes	no	no	no	NA
TMEM181	HGNC:20958	MGI:1924356	-	-	yes	no	no	no	NA
TMEM182	HGNC:26391	MGI:1923725	-	-	no	no	no	no	NA
TMEM183A	HGNC:20173	MGI:1914729	-	-	yes	no	no	no	NA
TMEM184A	HGNC:28797	MGI:2385897	-	-	no	no	no	no	NA
TMEM184B	HGNC:1310	MGI:2445179	-	-	yes	no	no	no	NA
TMEM184C	HGNC:25587	MGI:2384562	-	-	no	no	no	no	NA
TMEM185A	HGNC:17125	MGI:2448555	ORPHA:100974	Fraxf Syndrome	yes	no	yes	no	NA
TMEM185B	HGNC:18896	MGI:1917634	-	-	no	no	no	no	NA
TMEM186	HGNC:24530	MGI:1913940	-	-	no	no	no	no	NA
TMEM19	HGNC:25605	MGI:1914476	-	-	no	no	no	no	NA
TMEM190	HGNC:29632	MGI:1925302	-	-	no	no	no	no	NA
TMEM192	HGNC:26775	MGI:1920317	-	-	no	no	no	no	NA
TMEM196	HGNC:22431	MGI:2685374	-	-	no	no	no	no	NA
TMEM198	HGNC:33704	MGI:2443133	-	-	yes	no	no	no	NA
TMEM199	HGNC:18085	MGI:2144113	OMIM:616829|ORPHA:466703	Congenital Disorder Of Glycosylation, Type Iip|Tmem199-Cdg	no	no	no	no	NA
TMEM200A	HGNC:21075	MGI:1924470	-	-	no	no	no	no	NA
TMEM200B	HGNC:33785	MGI:3646343	-	-	no	no	no	no	NA
TMEM200C	HGNC:37208	MGI:3646281	-	-	no	no	no	no	NA
TMEM201	HGNC:33719	MGI:1196277	-	-	no	no	no	no	NA
TMEM202	HGNC:33733	MGI:1921143	-	-	no	no	no	no	NA
TMEM203	HGNC:28217	MGI:2443597	-	-	yes	no	no	no	NA
TMEM204	HGNC:14158	MGI:3039635	-	-	no	no	no	no	NA
TMEM205	HGNC:29631	MGI:3045495	-	-	no	no	no	no	NA
TMEM207	HGNC:33705	MGI:2685386	-	-	no	no	no	no	NA
TMEM208	HGNC:25015	MGI:1913570	-	-	no	no	no	no	NA
TMEM209	HGNC:21898	MGI:1919899	-	-	yes	no	no	no	NA
TMEM210	HGNC:34059	MGI:1925467	-	-	no	no	no	no	NA
TMEM212	HGNC:34295	MGI:2685410	-	-	yes	no	no	no	NA
TMEM213	HGNC:27220	MGI:1924772	-	-	no	no	no	no	NA
TMEM214	HGNC:25983	MGI:1916046	-	-	no	no	no	no	NA
TMEM215	HGNC:33816	MGI:2444167	-	-	no	no	no	no	NA
TMEM216	HGNC:25018	MGI:1920020	OMIM:608091|OMIM:603194|ORPHA:564|ORPHA:2318|ORPHA:2754	Joubert Syndrome 2|Meckel Syndrome, Type 2|Meckel Syndrome|Joubert Syndrome With Oculorenal Defect|Orofaciodigital Syndrome Type 6	no	no	no	no	NA
TMEM217	HGNC:21238	MGI:3646280	-	-	no	no	no	no	NA
TMEM218	HGNC:27344	MGI:1913529	OMIM:619562|ORPHA:475	Joubert Syndrome 39|Joubert Syndrome	no	no	no	no	NA
TMEM219	HGNC:25201	MGI:1915992	-	-	no	no	no	no	NA
TMEM220	HGNC:33757	MGI:2443691	-	-	no	no	no	no	NA
TMEM221	HGNC:21943	MGI:3525074	-	-	no	no	no	no	NA
TMEM222	HGNC:25363	MGI:1098568	OMIM:619470|ORPHA:528084	Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities|Non-Specific Syndromic Intellectual Disability	yes	yes	yes	yes	30.83
TMEM223	HGNC:28464	MGI:1914086	-	-	no	no	no	no	NA
TMEM225	HGNC:32390	MGI:1922917	-	-	yes	no	no	no	NA
TMEM229A	HGNC:37279	MGI:2442812	-	-	no	no	no	no	NA
TMEM229B	HGNC:20130	MGI:2444389	-	-	yes	no	no	no	NA
TMEM230	HGNC:15876	MGI:1917862	-	-	no	no	no	no	NA
TMEM231	HGNC:37234	MGI:2685024	OMIM:614970|OMIM:615397|ORPHA:564|ORPHA:2318|ORPHA:2752	Joubert Syndrome 20|Meckel Syndrome, Type 11|Meckel Syndrome|Joubert Syndrome With Oculorenal Defect|Orofaciodigital Syndrome Type 3	no	no	no	no	NA
TMEM232	HGNC:37270	MGI:2685786	-	-	no	no	no	no	NA
TMEM233	HGNC:37219	MGI:3651514	-	-	no	no	no	no	NA
TMEM234	HGNC:28837	MGI:1924049	-	-	no	no	no	no	NA
TMEM235	HGNC:27563	MGI:3651706	-	-	no	no	no	no	NA
TMEM236	HGNC:23473	MGI:1919309	-	-	no	no	no	no	NA
TMEM237	HGNC:14432	MGI:2138365	OMIM:614424|ORPHA:564|ORPHA:2318|ORPHA:475|ORPHA:220497	Joubert Syndrome 14|Meckel Syndrome|Joubert Syndrome With Oculorenal Defect|Joubert Syndrome|Joubert Syndrome With Renal Defect	yes	yes	yes	yes	39.82
TMEM238	HGNC:40042	MGI:1922935	-	-	no	no	no	no	NA
TMEM238L	HGNC:44356	MGI:1918826	-	-	no	no	no	no	NA
TMEM239	HGNC:40044	MGI:1914016	-	-	no	no	no	no	NA
TMEM240	HGNC:25186	MGI:3648074	OMIM:607454|ORPHA:98773	Spinocerebellar Ataxia 21|Spinocerebellar Ataxia Type 21	yes	yes	yes	yes	55.38
TMEM241	HGNC:31723	MGI:2442435	-	-	yes	no	no	no	NA
TMEM242	HGNC:17206	MGI:1917794	-	-	no	no	no	no	NA
TMEM243	HGNC:21707	MGI:3606159	-	-	no	no	no	no	NA
TMEM245	HGNC:1363	MGI:2445107	-	-	no	no	no	no	NA
TMEM247	HGNC:42967	MGI:1925719	-	-	no	no	no	no	NA
TMEM248	HGNC:25476	MGI:1918917	-	-	yes	no	no	no	NA
TMEM249	HGNC:44155	MGI:3647471	-	-	no	no	no	no	NA
TMEM25	HGNC:25890	MGI:1918937	-	-	no	no	no	no	NA
TMEM250	HGNC:31009	MGI:1924939	-	-	no	no	no	no	NA
TMEM252	HGNC:28537	MGI:3583948	-	-	no	no	no	no	NA
TMEM253	HGNC:32545	MGI:3588246	-	-	no	no	no	no	NA
TMEM254	HGNC:25804	MGI:1196450	-	-	yes	no	no	no	NA
TMEM255A	HGNC:26086	MGI:3045722	-	-	yes	no	no	no	NA
TMEM255B	HGNC:28297	MGI:2685533	-	-	yes	no	no	no	NA
TMEM256	HGNC:28618	MGI:1916436	-	-	yes	no	no	no	NA
TMEM258	HGNC:1164	MGI:1916288	-	-	no	no	no	no	NA
TMEM259	HGNC:17039	MGI:2177957	-	-	no	no	no	no	NA
TMEM26	HGNC:28550	MGI:2143537	-	-	no	no	no	no	NA
TMEM260	HGNC:20185	MGI:2443219	OMIM:617478	Structural Heart Defects And Renal Anomalies Syndrome	yes	yes	yes	no	NA
TMEM262	HGNC:49389	MGI:3690536	-	-	no	no	no	no	NA
TMEM263	HGNC:28281	MGI:2143652	-	-	no	no	no	no	NA
TMEM265	HGNC:51241	MGI:5613213	-	-	no	no	no	no	NA
TMEM266	HGNC:26763	MGI:2142980	-	-	no	no	no	no	NA
TMEM267	HGNC:26139	MGI:3648543	-	-	no	no	no	no	NA
TMEM268	HGNC:24513	MGI:1913920	-	-	no	no	no	no	NA
TMEM269	HGNC:52381	MGI:1922430	-	-	no	no	no	no	NA
TMEM270	HGNC:23018	MGI:1923879	ORPHA:904	Williams Syndrome	no	no	no	no	NA
TMEM271	HGNC:53639	MGI:5662654	-	-	no	no	no	no	NA
TMEM273	HGNC:27274	MGI:1916319	-	-	yes	no	no	no	NA
TMEM275	HGNC:53938	MGI:1923487	-	-	no	no	no	no	NA
TMEM30A	HGNC:16667	MGI:106402	-	-	yes	no	no	no	NA
TMEM30B	HGNC:27254	MGI:2442082	-	-	yes	no	no	no	NA
TMEM33	HGNC:25541	MGI:1915128	-	-	yes	no	no	no	NA
TMEM35A	HGNC:25864	MGI:1914814	-	-	no	no	no	no	NA
TMEM35B	HGNC:40021	MGI:3758095	-	-	yes	no	no	no	NA
TMEM37	HGNC:18216	MGI:2157899	-	-	yes	no	no	no	NA
TMEM38A	HGNC:28462	MGI:1921416	-	-	no	no	no	no	NA
TMEM38B	HGNC:25535	MGI:1098718	OMIM:615066|ORPHA:216820	Osteogenesis Imperfecta, Type Xiv|Osteogenesis Imperfecta Type 4	yes	yes	yes	no	NA
TMEM39A	HGNC:25600	MGI:1915096	-	-	no	no	no	no	NA
TMEM39B	HGNC:25510	MGI:2682939	-	-	no	no	no	no	NA
TMEM40	HGNC:25620	MGI:2137870	-	-	no	no	no	no	NA
TMEM41A	HGNC:30544	MGI:1913914	-	-	no	no	no	no	NA
TMEM41B	HGNC:28948	MGI:1289225	-	-	yes	no	no	no	NA
TMEM42	HGNC:28444	MGI:1277176	-	-	yes	no	no	no	NA
TMEM43	HGNC:28472	MGI:1921372	OMIM:604400|OMIM:619832|OMIM:614302|ORPHA:293910|ORPHA:293899|ORPHA:293888|ORPHA:98853	Arrhythmogenic Right Ventricular Dysplasia, Familial, 5|Auditory Neuropathy, Autosomal Dominant 3|Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant|Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form|Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form|Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form|Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	yes	no	yes	no	NA
TMEM44	HGNC:25120	MGI:1924489	-	-	no	no	no	no	NA
TMEM45A	HGNC:25480	MGI:1913122	-	-	yes	no	no	no	NA
TMEM45B	HGNC:25194	MGI:2384574	-	-	yes	no	no	no	NA
TMEM47	HGNC:18515	MGI:2177570	-	-	yes	no	no	no	NA
TMEM50A	HGNC:30590	MGI:1919067	-	-	no	no	no	no	NA
TMEM50B	HGNC:1280	MGI:1925225	-	-	yes	no	no	no	NA
TMEM51	HGNC:25488	MGI:2384874	-	-	yes	no	no	no	NA
TMEM52	HGNC:27916	MGI:1916921	-	-	no	no	no	no	NA
TMEM52B	HGNC:26438	MGI:2442838	-	-	no	no	no	no	NA
TMEM53	HGNC:26186	MGI:1916027	OMIM:619727	Craniotubular Dysplasia, Ikegawa Type	no	no	no	no	NA
TMEM54	HGNC:24143	MGI:1913510	-	-	no	no	no	no	NA
TMEM59	HGNC:1239	MGI:1929278	-	-	no	no	no	no	NA
TMEM59L	HGNC:13237	MGI:1915187	-	-	no	no	no	no	NA
TMEM60	HGNC:21754	MGI:2673965	-	-	yes	no	no	no	NA
TMEM61	HGNC:27296	MGI:3041156	-	-	yes	no	no	no	NA
TMEM62	HGNC:26269	MGI:2139461	-	-	yes	no	no	no	NA
TMEM63A	HGNC:29118	MGI:2384789	OMIM:618688	Leukodystrophy, Hypomyelinating, 19, Transient Infantile	yes	yes	yes	yes	32.815
TMEM63B	HGNC:17735	MGI:2387609	-	-	yes	no	no	no	NA
TMEM63C	HGNC:23787	MGI:2444386	OMIM:619966|ORPHA:631088	Spastic Paraplegia 87, Autosomal Recessive|Autosomal Recessive Spastic Paraplegia Type 87	yes	yes	yes	no	NA
TMEM64	HGNC:25441	MGI:2140359	-	-	no	no	no	no	NA
TMEM65	HGNC:25203	MGI:1922118	-	-	yes	no	no	no	NA
TMEM67	HGNC:28396	MGI:1923928	OMIM:615991|OMIM:602152|OMIM:216360|OMIM:610688|OMIM:607361|OMIM:613550|ORPHA:564|ORPHA:475|ORPHA:1454|ORPHA:140976|ORPHA:84081	Bardet-Biedl Syndrome 14|Rhyns Syndrome|Coach Syndrome 1|Joubert Syndrome 6|Meckel Syndrome, Type 3|Nephronophthisis 11|Meckel Syndrome|Joubert Syndrome|Joubert Syndrome With Hepatic Defect|Senior-Boichis Syndrome	yes	yes	yes	yes	21.385
TMEM68	HGNC:26510	MGI:1919348	-	-	yes	no	no	no	NA
TMEM69	HGNC:28035	MGI:3045357	-	-	no	no	no	no	NA
TMEM70	HGNC:26050	MGI:1915068	OMIM:614052|ORPHA:1194	Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2|Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	yes	yes	yes	yes	34.34
TMEM71	HGNC:26572	MGI:2146049	-	-	no	no	no	no	NA
TMEM72	HGNC:31658	MGI:2442707	-	-	yes	no	no	no	NA
TMEM74	HGNC:26409	MGI:2443417	-	-	yes	no	no	no	NA
TMEM74B	HGNC:15893	MGI:1918629	-	-	yes	no	no	no	NA
TMEM79	HGNC:28196	MGI:1919163	-	-	yes	no	no	no	NA
TMEM80	HGNC:27453	MGI:1918698	-	-	no	no	no	no	NA
TMEM81	HGNC:32349	MGI:1921876	-	-	no	no	no	no	NA
TMEM82	HGNC:32350	MGI:2384869	-	-	no	no	no	no	NA
TMEM86A	HGNC:26890	MGI:1915143	-	-	yes	no	no	no	NA
TMEM86B	HGNC:28448	MGI:1915505	-	-	yes	no	no	no	NA
TMEM87A	HGNC:24522	MGI:2441844	-	-	no	no	no	no	NA
TMEM87B	HGNC:25913	MGI:1919727	-	-	yes	no	no	no	NA
TMEM88	HGNC:32371	MGI:1914270	-	-	yes	no	no	no	NA
TMEM88B	HGNC:37099	MGI:2444329	-	-	yes	no	no	no	NA
TMEM89	HGNC:32372	MGI:1916634	-	-	no	no	no	no	NA
TMEM8B	HGNC:21427	MGI:2441680	-	-	yes	no	no	no	NA
TMEM9	HGNC:18823	MGI:1913491	-	-	yes	no	no	no	NA
TMEM91	HGNC:32393	MGI:2443589	-	-	no	no	no	no	NA
TMEM92	HGNC:26579	MGI:3034723	-	-	no	no	no	no	NA
TMEM94	HGNC:28983	MGI:1919197	OMIM:618316|ORPHA:562569	Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies|Tmem94-Associated Congenital Heart Defect-Facial Dysmorphism-Developmental Delay Syndrome	yes	yes	yes	no	NA
TMEM95	HGNC:27898	MGI:3779488	-	-	no	no	no	no	NA
TMEM97	HGNC:28106	MGI:1916321	-	-	yes	no	no	no	NA
TMEM98	HGNC:24529	MGI:1923457	OMIM:615972|ORPHA:35612	Nanophthalmos 4|Nanophthalmos	yes	yes	yes	no	NA
TMEM9B	HGNC:1168	MGI:1915254	-	-	yes	no	no	no	NA
TMF1	HGNC:11870	MGI:2684999	-	-	no	no	no	no	NA
TMIE	HGNC:30800	MGI:2159400	OMIM:600971|ORPHA:90636	Deafness, Autosomal Recessive 6|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	yes	yes	yes	no	NA
TMIGD1	HGNC:32431	MGI:1913851	-	-	yes	no	no	no	NA
TMIGD3	HGNC:51375	MGI:5604098	-	-	no	no	no	no	NA
TMOD1	HGNC:11871	MGI:98775	-	-	yes	no	no	no	NA
TMOD2	HGNC:11872	MGI:1355335	-	-	yes	no	no	no	NA
TMOD3	HGNC:11873	MGI:1355315	-	-	yes	no	no	no	NA
TMOD4	HGNC:11874	MGI:1355285	-	-	no	no	no	no	NA
TMPO	HGNC:11875	MGI:106920	ORPHA:154	Familial Isolated Dilated Cardiomyopathy	no	no	no	no	NA
TMPPE	HGNC:33865	MGI:5317335	-	-	no	no	no	no	NA
TMPRSS11A	HGNC:27954	MGI:2684853	-	-	no	no	no	no	NA
TMPRSS11B	HGNC:25398	MGI:2442893	-	-	yes	no	no	no	NA
TMPRSS11D	HGNC:24059	MGI:2385221	-	-	no	no	no	no	NA
TMPRSS11E	HGNC:24465	MGI:3513175	-	-	no	no	no	no	NA
TMPRSS11F	HGNC:29994	MGI:2442348	-	-	no	no	no	no	NA
TMPRSS12	HGNC:28779	MGI:1922252	-	-	no	no	no	no	NA
TMPRSS13	HGNC:29808	MGI:2682935	-	-	no	no	no	no	NA
TMPRSS15	HGNC:9490	MGI:1197523	OMIM:226200|ORPHA:168601	Enterokinase Deficiency|Congenital Enteropathy Due To Enteropeptidase Deficiency	yes	yes	yes	yes	42.37
TMPRSS2	HGNC:11876	MGI:1354381	-	-	yes	no	no	no	NA
TMPRSS3	HGNC:11877	MGI:2155445	OMIM:601072|ORPHA:90636	Deafness, Autosomal Recessive 8|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	no	no	no	no	NA
TMPRSS4	HGNC:11878	MGI:2384877	ORPHA:363969	Autosomal Recessive Cerebral Atrophy	no	no	no	no	NA
TMPRSS5	HGNC:14908	MGI:1933407	-	-	yes	no	no	no	NA
TMPRSS6	HGNC:16517	MGI:1919003	OMIM:206200|ORPHA:209981	Iron-Refractory Iron Deficiency Anemia|Irida Syndrome	yes	yes	yes	yes	44.65
TMPRSS7	HGNC:30846	MGI:2686594	-	-	no	no	no	no	NA
TMPRSS9	HGNC:30079	MGI:3612246	-	-	no	no	no	no	NA
TMSB10	HGNC:11879	MGI:109146	-	-	no	no	no	no	NA
TMSB15A	HGNC:30744	MGI:1925728	-	-	no	no	no	no	NA
TMSB4X	HGNC:11881	MGI:99510	-	-	yes	no	no	no	NA
TMT1B	HGNC:28276	MGI:1918914	-	-	yes	no	no	no	NA
TMTC1	HGNC:24099	MGI:3039590	-	-	no	no	no	no	NA
TMTC2	HGNC:25440	MGI:1914057	-	-	yes	no	no	no	NA
TMTC3	HGNC:26899	MGI:3036255	OMIM:617255|ORPHA:98892	Lissencephaly 8|Periventricular Nodular Heterotopia	yes	yes	yes	yes	23.08
TMTC4	HGNC:25904	MGI:1921050	-	-	yes	no	no	no	NA
TMUB1	HGNC:21709	MGI:1923764	-	-	no	no	no	no	NA
TMUB2	HGNC:28459	MGI:1919303	-	-	yes	no	no	no	NA
TMX1	HGNC:15487	MGI:1919986	-	-	no	no	no	no	NA
TMX2	HGNC:30739	MGI:1914208	OMIM:618730	Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity	yes	yes	yes	no	NA
TMX3	HGNC:24718	MGI:2442418	-	-	no	no	no	no	NA
TMX4	HGNC:25237	MGI:106558	-	-	no	no	no	no	NA
TNC	HGNC:5318	MGI:101922	OMIM:615629|ORPHA:90635	Deafness, Autosomal Dominant 56|Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	no	no	no	no	NA
TNF	HGNC:11892	MGI:104798	OMIM:600807|OMIM:611162|OMIM:157300|ORPHA:40050	Asthma, Susceptibility To|Malaria, Susceptibility To|Migraine With Or Without Aura, Susceptibility To, 1|Non Rare In Europe: Psoriatic Arthritis	no	no	no	no	NA
TNFAIP1	HGNC:11894	MGI:104961	-	-	yes	no	no	no	NA
TNFAIP2	HGNC:11895	MGI:104960	-	-	yes	no	no	no	NA
TNFAIP3	HGNC:11896	MGI:1196377	OMIM:616744|ORPHA:536|ORPHA:476102	Autoinflammatory Syndrome, Familial, Behcet-Like 1|Systemic Lupus Erythematosus|Hereditary Pediatric Behçet-Like Disease	no	no	no	no	NA
TNFAIP6	HGNC:11898	MGI:1195266	-	-	no	no	no	no	NA
TNFAIP8	HGNC:17260	MGI:2147191	-	-	no	no	no	no	NA
TNFAIP8L1	HGNC:28279	MGI:1913693	-	-	yes	no	no	no	NA
TNFAIP8L2	HGNC:26277	MGI:1917019	-	-	no	no	no	no	NA
TNFAIP8L3	HGNC:20620	MGI:2685363	-	-	no	no	no	no	NA
TNFRSF11A	HGNC:11908	MGI:1314891	OMIM:174810|OMIM:612301|OMIM:602080|ORPHA:2801|ORPHA:178389|ORPHA:1782|ORPHA:280110|ORPHA:391490|ORPHA:85195	Familial Expansile Osteolysis|Osteopetrosis, Autosomal Recessive 7|Paget Disease Of Bone 2, Early-Onset|Juvenile Paget Disease|Osteopetrosis-Hypogammaglobulinemia Syndrome|Dysosteosclerosis|Non Rare In Europe: Paget Disease Of Bone|Adult-Onset Myasthenia Gravis	no	no	no	no	NA
TNFRSF11B	HGNC:11909	MGI:109587	OMIM:239000|ORPHA:2801|ORPHA:1416	Paget Disease Of Bone 5, Juvenile-Onset|Juvenile Paget Disease|Familial Calcium Pyrophosphate Deposition	yes	yes	yes	yes	60.55
TNFRSF12A	HGNC:18152	MGI:1351484	-	-	no	no	no	no	NA
TNFRSF13B	HGNC:18153	MGI:1889411	OMIM:240500|OMIM:609529|ORPHA:1572|ORPHA:69127	Immunodeficiency, Common Variable, 2|Immunoglobulin A Deficiency 2|Common Variable Immunodeficiency|Non Rare In Europe: Immunoglobulin A Deficiency	no	no	no	no	NA
TNFRSF13C	HGNC:17755	MGI:1919299	OMIM:613494|ORPHA:1572	Immunodeficiency, Common Variable, 4|Common Variable Immunodeficiency	no	no	no	no	NA
TNFRSF14	HGNC:11912	MGI:2675303	-	-	no	no	no	no	NA
TNFRSF17	HGNC:11913	MGI:1343050	-	-	yes	no	no	no	NA
TNFRSF18	HGNC:11914	MGI:894675	-	-	yes	no	no	no	NA
TNFRSF19	HGNC:11915	MGI:1352474	-	-	no	no	no	no	NA
TNFRSF1A	HGNC:11916	MGI:1314884	OMIM:142680|OMIM:614810|ORPHA:802|ORPHA:329967|ORPHA:32960	Periodic Fever, Familial, Autosomal Dominant|Multiple Sclerosis, Susceptibility To, 5|Non Rare In Europe: Multiple Sclerosis|Intermittent Hydrarthrosis|Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	yes	yes	yes	yes	40.64
TNFRSF1B	HGNC:11917	MGI:1314883	ORPHA:2584|ORPHA:3162	Classic Mycosis Fungoides|Sézary Syndrome	yes	yes	yes	yes	33.22
TNFRSF21	HGNC:13469	MGI:2151075	-	-	no	no	no	no	NA
TNFRSF25	HGNC:11910	MGI:1934667	-	-	no	no	no	no	NA
TNFRSF4	HGNC:11918	MGI:104512	OMIM:615593|ORPHA:431149	Immunodeficiency 16|Combined Immunodeficiency Due To Ox40 Deficiency	no	no	no	no	NA
TNFRSF8	HGNC:11923	MGI:99908	-	-	no	no	no	no	NA
TNFRSF9	HGNC:11924	MGI:1101059	OMIM:620282	Immunodeficiency 109 With Lymphoproliferation	yes	yes	yes	no	NA
TNFSF10	HGNC:11925	MGI:107414	-	-	yes	no	no	no	NA
TNFSF11	HGNC:11926	MGI:1100089	OMIM:259710|ORPHA:667	Osteopetrosis, Autosomal Recessive 2|Autosomal Recessive Malignant Osteopetrosis	no	no	no	no	NA
TNFSF12	HGNC:11927	MGI:1196259	ORPHA:1572	Common Variable Immunodeficiency	no	no	no	no	NA
TNFSF13	HGNC:11928	MGI:1916833	-	-	no	no	no	no	NA
TNFSF13B	HGNC:11929	MGI:1344376	-	-	no	no	no	no	NA
TNFSF14	HGNC:11930	MGI:1355317	-	-	no	no	no	no	NA
TNFSF15	HGNC:11931	MGI:2180140	ORPHA:186	Primary Biliary Cholangitis	no	no	no	no	NA
TNFSF18	HGNC:11932	MGI:2673064	-	-	yes	no	no	no	NA
TNFSF4	HGNC:11934	MGI:104511	OMIM:608446|ORPHA:536|ORPHA:2073	Myocardial Infarction, Susceptibility To|Systemic Lupus Erythematosus|Narcolepsy Type 1	no	no	no	no	NA
TNFSF8	HGNC:11938	MGI:88328	-	-	yes	no	no	no	NA
TNFSF9	HGNC:11939	MGI:1101058	-	-	no	no	no	no	NA
TNIK	HGNC:30765	MGI:1916264	OMIM:617028|ORPHA:88616	Intellectual Developmental Disorder, Autosomal Recessive 54|Autosomal Recessive Non-Syndromic Intellectual Disability	yes	yes	yes	no	NA
TNIP1	HGNC:16903	MGI:1926194	ORPHA:536	Systemic Lupus Erythematosus	yes	yes	yes	yes	47.41
TNIP2	HGNC:19118	MGI:2386643	-	-	no	no	no	no	NA
TNIP3	HGNC:19315	MGI:3041165	-	-	no	no	no	no	NA
TNK1	HGNC:11940	MGI:1930958	-	-	yes	no	no	no	NA
TNK2	HGNC:19297	MGI:1858308	ORPHA:391316	Infantile-Onset Mesial Temporal Lobe Epilepsy With Severe Cognitive Regression	yes	yes	no	no	NA
TNKS	HGNC:11941	MGI:1341087	-	-	yes	no	no	no	NA
TNKS1BP1	HGNC:19081	MGI:2446193	-	-	yes	no	no	no	NA
TNKS2	HGNC:15677	MGI:1921743	-	-	yes	no	no	no	NA
TNMD	HGNC:17757	MGI:1929885	-	-	no	no	no	no	NA
TNN	HGNC:22942	MGI:2665790	-	-	yes	no	no	no	NA
TNNC1	HGNC:11943	MGI:98779	OMIM:611879|OMIM:613243|ORPHA:154|ORPHA:155	Cardiomyopathy, Dilated, 1Z|Cardiomyopathy, Familial Hypertrophic, 13|Familial Isolated Dilated Cardiomyopathy|Non Rare In Europe: Familial Isolated Hypertrophic Cardiomyopathy	yes	yes	yes	no	NA
TNNC2	HGNC:11944	MGI:98780	OMIM:620161	Congenital Myopathy 15	no	no	no	no	NA
TNNI1	HGNC:11945	MGI:105073	-	-	yes	no	no	no	NA
TNNI2	HGNC:11946	MGI:105070	OMIM:601680|ORPHA:1146|ORPHA:1147	Arthrogryposis, Distal, Type 2B1|Distal Arthrogryposis Type 1|Sheldon-Hall Syndrome	yes	yes	yes	yes	16.895
TNNI3	HGNC:11947	MGI:98783	OMIM:611880|OMIM:613286|OMIM:115210|OMIM:613690|ORPHA:154|ORPHA:155|ORPHA:75249	Cardiomyopathy, Dilated, 2A|Cardiomyopathy, Dilated, 1Ff|Cardiomyopathy, Familial Restrictive, 1|Cardiomyopathy, Familial Hypertrophic, 7|Familial Isolated Dilated Cardiomyopathy|Non Rare In Europe: Familial Isolated Hypertrophic Cardiomyopathy|Familial Isolated Restrictive Cardiomyopathy	no	no	no	no	NA
TNNI3K	HGNC:19661	MGI:2443276	OMIM:616117|ORPHA:436242	Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy|Familial Atrial Tachyarrhythmia-Infra-Hisian Cardiac Conduction Disease	yes	no	yes	no	NA
TNNT1	HGNC:11948	MGI:1333868	OMIM:605355|OMIM:620386|OMIM:620389|ORPHA:98902	Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile|Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset|Nemaline Myopathy 5C, Autosomal Dominant|Amish Nemaline Myopathy	no	no	no	no	NA
TNNT2	HGNC:11949	MGI:104597	OMIM:601494|OMIM:612422|OMIM:115195|ORPHA:154|ORPHA:155|ORPHA:75249|ORPHA:54260	Cardiomyopathy, Dilated, 1D|Cardiomyopathy, Familial Restrictive, 3|Cardiomyopathy, Familial Hypertrophic, 2|Familial Isolated Dilated Cardiomyopathy|Non Rare In Europe: Familial Isolated Hypertrophic Cardiomyopathy|Familial Isolated Restrictive Cardiomyopathy|Left Ventricular Noncompaction	no	no	no	no	NA
TNNT3	HGNC:11950	MGI:109550	OMIM:618435|ORPHA:1146|ORPHA:1147	Arthrogryposis, Distal, Type 2B2|Distal Arthrogryposis Type 1|Sheldon-Hall Syndrome	no	no	no	no	NA
TNP1	HGNC:11951	MGI:98784	-	-	no	no	no	no	NA
TNP2	HGNC:11952	MGI:98785	-	-	no	no	no	no	NA
TNPO1	HGNC:6401	MGI:2681523	-	-	no	no	no	no	NA
TNPO2	HGNC:19998	MGI:2384849	OMIM:619556	Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	yes	no	yes	no	NA
TNPO3	HGNC:17103	MGI:1196412	OMIM:608423|ORPHA:186|ORPHA:55595	Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2|Primary Biliary Cholangitis|Tnp03-Related Limb-Girdle Muscular Dystrophy D2	no	no	no	no	NA
TNR	HGNC:11953	MGI:99516	OMIM:619653	Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	yes	yes	yes	yes	29.27
TNRC18	HGNC:11962	MGI:3648294	-	-	no	no	no	no	NA
TNRC6A	HGNC:11969	MGI:2385292	OMIM:618074	Epilepsy, Familial Adult Myoclonic, 6	no	no	no	no	NA
TNRC6B	HGNC:29190	MGI:2443730	OMIM:619243|ORPHA:528084	Global Developmental Delay With Speech And Behavioral Abnormalities|Non-Specific Syndromic Intellectual Disability	yes	yes	yes	yes	24.545
TNRC6C	HGNC:29318	MGI:2443265	-	-	yes	no	no	no	NA
TNS1	HGNC:11973	MGI:104552	-	-	no	no	no	no	NA
TNS2	HGNC:19737	MGI:2387586	-	-	no	no	no	no	NA
TNS3	HGNC:21616	MGI:2443012	-	-	yes	no	no	no	NA
TNS4	HGNC:24352	MGI:2144377	-	-	no	no	no	no	NA
TNXB	HGNC:11976	MGI:1932137	OMIM:606408|OMIM:615963|ORPHA:230839|ORPHA:289365	Ehlers-Danlos Syndrome, Classic-Like|Vesicoureteral Reflux 8|Classical-Like Ehlers-Danlos Syndrome Type 1|Familial Vesicoureteral Reflux	yes	yes	yes	yes	22.665
TOB1	HGNC:11979	MGI:1349721	-	-	no	no	no	no	NA
TOB2	HGNC:11980	MGI:1888525	-	-	no	no	no	no	NA
TOE1	HGNC:15954	MGI:1915526	OMIM:614969|ORPHA:284339	Pontocerebellar Hypoplasia, Type 7|Pontocerebellar Hypoplasia Type 7	yes	yes	yes	yes	24.675
TOGARAM1	HGNC:19959	MGI:2684313	OMIM:619185|ORPHA:475	Joubert Syndrome 37|Joubert Syndrome	yes	yes	yes	yes	48.225
TOGARAM2	HGNC:33715	MGI:2443498	-	-	no	no	no	no	NA
TOLLIP	HGNC:16476	MGI:1891808	-	-	no	no	no	no	NA
TOM1	HGNC:11982	MGI:1338026	OMIM:619510|ORPHA:391487	Immunodeficiency 85 And Autoimmunity|Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	yes	no	yes	no	NA
TOM1L1	HGNC:11983	MGI:1919193	-	-	yes	no	no	no	NA
TOM1L2	HGNC:11984	MGI:2443306	-	-	no	no	no	no	NA
TOMM20	HGNC:20947	MGI:1915202	-	-	yes	no	no	no	NA
TOMM20L	HGNC:33752	MGI:1922516	-	-	yes	no	no	no	NA
TOMM22	HGNC:18002	MGI:2450248	-	-	yes	no	no	no	NA
TOMM34	HGNC:15746	MGI:1914395	-	-	no	no	no	no	NA
TOMM40	HGNC:18001	MGI:1858259	ORPHA:1020	Early-Onset Autosomal Dominant Alzheimer Disease	yes	yes	yes	yes	35.505
TOMM40L	HGNC:25756	MGI:3589112	-	-	no	no	no	no	NA
TOMM5	HGNC:31369	MGI:1915762	-	-	no	no	no	no	NA
TOMM6	HGNC:34528	MGI:1913369	-	-	yes	no	no	no	NA
TOMM7	HGNC:21648	MGI:1913419	-	-	no	no	no	no	NA
TOMM70	HGNC:11985	MGI:106295	-	-	yes	no	no	no	NA
TONSL	HGNC:7801	MGI:1919999	OMIM:271510|ORPHA:93357	Spondyloepimetaphyseal Dysplasia, Sponastrime Type|Sponastrime Dysplasia	yes	yes	yes	no	NA
TOP1	HGNC:11986	MGI:98788	-	-	no	no	no	no	NA
TOP1MT	HGNC:29787	MGI:1920210	-	-	no	no	no	no	NA
TOP2A	HGNC:11989	MGI:98790	ORPHA:635	Neuroblastoma	yes	yes	yes	yes	22.625
TOP2B	HGNC:11990	MGI:98791	OMIM:609296|ORPHA:567502	B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations|B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation Syndrome	yes	yes	no	no	NA
TOP3A	HGNC:11992	MGI:1197527	OMIM:618098|OMIM:618097|ORPHA:508512	Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5|Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2|Intrauterine Growth Restriction-Congenital Multiple Café-Au-Lait Macules-Increased Sister Chromatid Exchange Syndrome	yes	yes	yes	no	NA
TOP3B	HGNC:11993	MGI:1333803	-	-	no	no	no	no	NA
TOP6BL	HGNC:26197	MGI:2685806	OMIM:618432|ORPHA:254688	Hydatidiform Mole, Recurrent, 4|Complete Hydatidiform Mole	no	no	no	no	NA
TOPAZ1	HGNC:24746	MGI:3779933	-	-	no	no	no	no	NA
TOPBP1	HGNC:17008	MGI:1920018	-	-	no	no	no	no	NA
TOPORS	HGNC:21653	MGI:2146189	OMIM:609923|ORPHA:791|ORPHA:2754	Retinitis Pigmentosa 31|Retinitis Pigmentosa|Orofaciodigital Syndrome Type 6	yes	yes	yes	yes	25.13
TOR1A	HGNC:3098	MGI:1353568	OMIM:618947|OMIM:128100|ORPHA:256|ORPHA:36899	Arthrogryposis Multiplex Congenita 5|Dystonia 1, Torsion, Autosomal Dominant|Early-Onset Generalized Limb-Onset Dystonia|Myoclonus-Dystonia Syndrome	yes	yes	yes	yes	28.85
TOR1AIP1	HGNC:29456	MGI:3582693	OMIM:617072|ORPHA:424261	Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures|Tor1Aip1-Related Limb-Girdle Muscular Dystrophy	yes	yes	yes	no	NA
TOR1AIP2	HGNC:24055	MGI:3582695	-	-	no	no	no	no	NA
TOR1B	HGNC:11995	MGI:1353605	-	-	no	no	no	no	NA
TOR2A	HGNC:11996	MGI:1353596	-	-	no	no	no	no	NA
TOR3A	HGNC:11997	MGI:1353652	-	-	no	no	no	no	NA
TOR4A	HGNC:25981	MGI:2442720	-	-	no	no	no	no	NA
TOX	HGNC:18988	MGI:2181659	-	-	yes	no	no	no	NA
TOX2	HGNC:16095	MGI:3611233	-	-	yes	no	no	no	NA
TOX3	HGNC:11972	MGI:3039593	-	-	yes	no	no	no	NA
TOX4	HGNC:20161	MGI:1915389	-	-	yes	no	no	no	NA
TP53	HGNC:11998	MGI:98834	OMIM:618165|OMIM:114480|OMIM:114500|OMIM:137800|OMIM:114550|OMIM:151623|OMIM:607107|OMIM:259500|OMIM:260350|OMIM:202300|OMIM:614740|OMIM:260500|ORPHA:524|ORPHA:251576|ORPHA:251579|ORPHA:251899|ORPHA:2807|ORPHA:210159|ORPHA:145|ORPHA:668|ORPHA:1501|ORPHA:1333|ORPHA:3318|ORPHA:293199|ORPHA:70573|ORPHA:67038|ORPHA:96253|ORPHA:99757|ORPHA:99756|ORPHA:585909	Bone Marrow Failure Syndrome 5|Breast Cancer|Colorectal Cancer|Glioma Susceptibility 1|Hepatocellular Carcinoma|Li-Fraumeni Syndrome|Nasopharyngeal Carcinoma|Osteogenic Sarcoma|Pancreatic Cancer|Adrenocortical Carcinoma, Hereditary|Basal Cell Carcinoma, Susceptibility To, 7|Papilloma Of Choroid Plexus|Gliosarcoma|Giant Cell Glioblastoma|Choroid Plexus Carcinoma|Adult Hepatocellular Carcinoma|Hereditary Breast And/Or Ovarian Cancer Syndrome|Osteosarcoma|Adrenocortical Carcinoma|Familial Pancreatic Carcinoma|Essential Thrombocythemia|Pleomorphic Rhabdomyosarcoma|Small Cell Lung Cancer|B-Cell Chronic Lymphocytic Leukemia|Cushing Disease|Embryonal Rhabdomyosarcoma|Alveolar Rhabdomyosarcoma|B-Lymphoblastic Leukemia/Lymphoma With T(9;22)(Q34.1;Q11.2)	yes	yes	yes	yes	30.615
TP53BP1	HGNC:11999	MGI:1351320	-	-	no	no	no	no	NA
TP53BP2	HGNC:12000	MGI:2138319	-	-	yes	no	no	no	NA
TP53I11	HGNC:16842	MGI:2670995	-	-	yes	no	no	no	NA
TP53I13	HGNC:25102	MGI:1915125	-	-	no	no	no	no	NA
TP53INP1	HGNC:18022	MGI:1926609	-	-	yes	no	no	no	NA
TP53INP2	HGNC:16104	MGI:1915978	-	-	yes	no	no	no	NA
TP53TG5	HGNC:15856	MGI:1920853	-	-	no	no	no	no	NA
TP63	HGNC:15979	MGI:1330810	OMIM:103285|OMIM:604292|OMIM:106260|OMIM:603543|OMIM:618149|OMIM:620311|OMIM:129400|OMIM:605289|ORPHA:199302|ORPHA:199306|ORPHA:1072|ORPHA:978|ORPHA:141291|ORPHA:1896|ORPHA:2440|ORPHA:69085|ORPHA:93930	Adult Syndrome|Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3|Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate|Limb-Mammary Syndrome|Orofacial Cleft 8|Premature Ovarian Failure 21|Rapp-Hodgkin Syndrome|Split-Hand/Foot Malformation 4|Isolated Cleft Lip|Cleft Lip/Palate|Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome|Cleft Lip And Alveolus|Eec Syndrome|Isolated Split Hand-Split Foot Malformation|Bladder Exstrophy	no	no	no	no	NA
TP73	HGNC:12003	MGI:1336991	OMIM:619466|ORPHA:70573	Ciliary Dyskinesia, Primary, 47, And Lissencephaly|Small Cell Lung Cancer	yes	yes	yes	no	NA
TPBG	HGNC:12004	MGI:1341264	-	-	no	no	no	no	NA
TPBGL	HGNC:44159	MGI:3646425	-	-	no	no	no	no	NA
TPCN1	HGNC:18182	MGI:2182472	-	-	yes	no	no	no	NA
TPCN2	HGNC:20820	MGI:2385297	OMIM:612267	Skin/Hair/Eye Pigmentation, Variation In, 10	yes	yes	no	no	NA
TPD52	HGNC:12005	MGI:107749	-	-	no	no	no	no	NA
TPD52L1	HGNC:12006	MGI:1298386	-	-	yes	no	no	no	NA
TPD52L2	HGNC:12007	MGI:1913564	-	-	yes	no	no	no	NA
TPD52L3	HGNC:23382	MGI:1913995	-	-	no	no	no	no	NA
TPGS1	HGNC:25058	MGI:106618	-	-	no	no	no	no	NA
TPGS2	HGNC:24561	MGI:1913898	-	-	yes	no	no	no	NA
TPH1	HGNC:12008	MGI:98796	-	-	no	no	no	no	NA
TPH2	HGNC:20692	MGI:2651811	OMIM:608516|OMIM:613003	Major Depressive Disorder|Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7	yes	yes	yes	yes	51.95
TPI1	HGNC:12009	MGI:98797	OMIM:615512|ORPHA:868	Triosephosphate Isomerase Deficiency|Triose Phosphate-Isomerase Deficiency	yes	yes	yes	no	NA
TPK1	HGNC:17358	MGI:1352500	OMIM:614458|ORPHA:293955	Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)|Childhood Encephalopathy Due To Thiamine Pyrophosphokinase Deficiency	yes	yes	yes	no	NA
TPM1	HGNC:12010	MGI:98809	OMIM:611878|OMIM:115196|ORPHA:154|ORPHA:155|ORPHA:54260	Cardiomyopathy, Dilated, 1Y|Cardiomyopathy, Familial Hypertrophic, 3|Familial Isolated Dilated Cardiomyopathy|Non Rare In Europe: Familial Isolated Hypertrophic Cardiomyopathy|Left Ventricular Noncompaction	yes	yes	yes	yes	45.27
TPM2	HGNC:12011	MGI:98810	OMIM:108120|OMIM:609285|ORPHA:171436|ORPHA:171439|ORPHA:1146|ORPHA:1147|ORPHA:2020|ORPHA:171881	Arthrogryposis, Distal, Type 1A|Congenital Myopathy 23|Typical Nemaline Myopathy|Childhood-Onset Nemaline Myopathy|Distal Arthrogryposis Type 1|Sheldon-Hall Syndrome|Congenital Fiber-Type Disproportion Myopathy|Cap Myopathy	no	no	no	no	NA
TPM3	HGNC:12012	MGI:1890149	OMIM:255310|OMIM:609284|ORPHA:171433|ORPHA:171439|ORPHA:2020|ORPHA:178342|ORPHA:171881|ORPHA:476406	Congenital Myopathy 4A, Autosomal Dominant|Congenital Myopathy 4B, Autosomal Recessive|Intermediate Nemaline Myopathy|Childhood-Onset Nemaline Myopathy|Congenital Fiber-Type Disproportion Myopathy|Inflammatory Myofibroblastic Tumor|Cap Myopathy|Congenital Generalized Hypercontractile Muscle Stiffness Syndrome	no	no	no	no	NA
TPM4	HGNC:12013	MGI:2449202	OMIM:620486|ORPHA:178342|ORPHA:140957	Bleeding Disorder, Platelet-Type, 25|Inflammatory Myofibroblastic Tumor|Autosomal Dominant Macrothrombocytopenia	no	no	no	no	NA
TPMT	HGNC:12014	MGI:98812	OMIM:610460	Thiopurines, Poor Metabolism Of, 1	no	no	no	no	NA
TPO	HGNC:12015	MGI:98813	OMIM:274500|ORPHA:95716	Thyroid Dyshormonogenesis 2A|Familial Thyroid Dyshormonogenesis	yes	yes	yes	yes	34.275
TPP1	HGNC:2073	MGI:1336194	OMIM:204500|OMIM:609270|ORPHA:228349|ORPHA:284324	Ceroid Lipofuscinosis, Neuronal, 2|Spinocerebellar Ataxia, Autosomal Recessive 7|Cln2 Disease|Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	no	no	no	no	NA
TPP2	HGNC:12016	MGI:102724	OMIM:619220|ORPHA:444463	Immunodeficiency 78 With Autoimmunity And Developmental Delay|Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	no	no	no	no	NA
TPPP	HGNC:24164	MGI:1920198	-	-	yes	no	no	no	NA
TPPP2	HGNC:19293	MGI:2684923	-	-	yes	no	no	no	NA
TPPP3	HGNC:24162	MGI:1915221	-	-	yes	no	no	no	NA
TPR	HGNC:12017	MGI:1922066	OMIM:620393|ORPHA:146|ORPHA:88616	Intellectual Developmental Disorder, Autosomal Recessive 79|Differentiated Thyroid Carcinoma|Autosomal Recessive Non-Syndromic Intellectual Disability	yes	yes	yes	no	NA
TPRA1	HGNC:30413	MGI:1345190	-	-	no	no	no	no	NA
TPRG1	HGNC:24759	MGI:1918588	-	-	yes	no	no	no	NA
TPRG1L	HGNC:27007	MGI:1915058	-	-	no	no	no	no	NA
TPRKB	HGNC:24259	MGI:1917036	OMIM:617731|ORPHA:2065	Galloway-Mowat Syndrome 5|Galloway-Mowat Syndrome	yes	yes	yes	no	NA
TPRN	HGNC:26894	MGI:2139535	OMIM:613307|ORPHA:90636	Deafness, Autosomal Recessive 79|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	yes	yes	yes	yes	38.095
TPSG1	HGNC:14134	MGI:1349391	-	-	no	no	no	no	NA
TPST1	HGNC:12020	MGI:1298231	-	-	no	no	no	no	NA
TPST2	HGNC:12021	MGI:1309516	-	-	no	no	no	no	NA
TPT1	HGNC:12022	MGI:104890	-	-	no	no	no	no	NA
TPX2	HGNC:1249	MGI:1919369	-	-	yes	no	no	no	NA
TRA2A	HGNC:16645	MGI:1933972	-	-	yes	no	no	no	NA
TRA2B	HGNC:10781	MGI:106016	-	-	no	no	no	no	NA
TRABD	HGNC:28805	MGI:1915226	-	-	yes	no	no	no	NA
TRABD2B	HGNC:44200	MGI:3650152	-	-	yes	no	no	no	NA
TRADD	HGNC:12030	MGI:109200	-	-	no	no	no	no	NA
TRAF1	HGNC:12031	MGI:101836	-	-	no	no	no	no	NA
TRAF2	HGNC:12032	MGI:101835	-	-	yes	no	no	no	NA
TRAF3	HGNC:12033	MGI:108041	OMIM:614849|ORPHA:1930	Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5|Herpes Simplex Virus Encephalitis	no	no	no	no	NA
TRAF3IP1	HGNC:17861	MGI:1921269	OMIM:616629|ORPHA:3156|ORPHA:93269	Senior-Loken Syndrome 9|Senior-Loken Syndrome|Short Rib-Polydactyly Syndrome, Majewski Type	yes	yes	yes	yes	31.495
TRAF3IP2	HGNC:1343	MGI:2143599	OMIM:615527|OMIM:614070|ORPHA:1334	Candidiasis, Familial, 8|Psoriasis 13, Susceptibility To|Chronic Mucocutaneous Candidiasis	no	no	no	no	NA
TRAF3IP3	HGNC:30766	MGI:2441706	-	-	yes	no	no	no	NA
TRAF4	HGNC:12034	MGI:1202880	-	-	no	no	no	no	NA
TRAF5	HGNC:12035	MGI:107548	-	-	no	no	no	no	NA
TRAF6	HGNC:12036	MGI:108072	ORPHA:1810	Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	yes	yes	yes	no	NA
TRAF7	HGNC:20456	MGI:3042141	OMIM:618164|ORPHA:2495|ORPHA:592570	Cardiac, Facial, And Digital Anomalies With Developmental Delay|Meningioma|Traf7-Associated Heart Defect-Digital Anomalies-Facial Dysmorphism-Motor And Speech Delay Syndrome	yes	yes	yes	yes	21.72
TRAFD1	HGNC:24808	MGI:1923551	-	-	yes	no	no	no	NA
TRAIP	HGNC:30764	MGI:1096377	OMIM:616777|ORPHA:808	Seckel Syndrome 9|Seckel Syndrome	no	no	no	no	NA
TRAK1	HGNC:29947	MGI:1914345	OMIM:618201|ORPHA:442835	Developmental And Epileptic Encephalopathy 68|Non-Specific Early-Onset Epileptic Encephalopathy	no	no	no	no	NA
TRAK2	HGNC:13206	MGI:1918077	-	-	yes	no	no	no	NA
TRAM1	HGNC:20568	MGI:1919515	-	-	yes	no	no	no	NA
TRAM1L1	HGNC:28371	MGI:2443503	-	-	no	no	no	no	NA
TRAM2	HGNC:16855	MGI:1924817	-	-	yes	no	no	no	NA
TRANK1	HGNC:29011	MGI:1341834	ORPHA:33543	Kleine-Levin Syndrome	yes	yes	yes	no	NA
TRAP1	HGNC:16264	MGI:1915265	-	-	yes	no	no	no	NA
TRAPPC1	HGNC:19894	MGI:1098727	-	-	yes	no	no	no	NA
TRAPPC10	HGNC:11868	MGI:1336209	OMIM:620027|ORPHA:2512	Neurodevelopmental Disorder With Microcephaly, Short Stature, And Speech Delay|Autosomal Recessive Primary Microcephaly	yes	yes	yes	yes	34.115
TRAPPC11	HGNC:25751	MGI:2444585	OMIM:615356|ORPHA:869|ORPHA:369840|ORPHA:369847	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18|Triple A Syndrome|Trappc11-Related Limb-Girdle Muscular Dystrophy R18|Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	yes	yes	yes	yes	27.47
TRAPPC12	HGNC:24284	MGI:2445089	OMIM:617669|ORPHA:500144	Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity|Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	no	no	no	no	NA
TRAPPC13	HGNC:25828	MGI:1914225	-	-	no	no	no	no	NA
TRAPPC14	HGNC:25604	MGI:2385896	OMIM:618351|ORPHA:2512	Microcephaly 25, Primary, Autosomal Recessive|Autosomal Recessive Primary Microcephaly	no	no	no	no	NA
TRAPPC2L	HGNC:30887	MGI:1916295	OMIM:618331	Encephalopathy, Progressive, Early-Onset, With Episodic Rhabdomyolysis	yes	yes	yes	no	NA
TRAPPC3	HGNC:19942	MGI:1351486	-	-	no	no	no	no	NA
TRAPPC3L	HGNC:21090	MGI:3642034	-	-	no	no	no	no	NA
TRAPPC4	HGNC:19943	MGI:1926211	OMIM:618741|ORPHA:528084	Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy|Non-Specific Syndromic Intellectual Disability	yes	yes	yes	no	NA
TRAPPC5	HGNC:23067	MGI:1913932	-	-	no	no	no	no	NA
TRAPPC6A	HGNC:23069	MGI:1914341	-	-	no	no	no	no	NA
TRAPPC6B	HGNC:23066	MGI:1925482	OMIM:617862	Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	no	no	no	no	NA
TRAPPC8	HGNC:29169	MGI:2443008	-	-	no	no	no	no	NA
TRAPPC9	HGNC:30832	MGI:1923760	OMIM:613192|ORPHA:352530|ORPHA:88616	Intellectual Developmental Disorder, Autosomal Recessive 13|Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome|Autosomal Recessive Non-Syndromic Intellectual Disability	yes	yes	yes	yes	19.52
TRARG1	HGNC:29592	MGI:3029307	-	-	yes	no	no	no	NA
TRAT1	HGNC:30698	MGI:1924897	-	-	no	no	no	no	NA
TRDMT1	HGNC:2977	MGI:1274787	-	-	yes	no	no	no	NA
TRDN	HGNC:12261	MGI:1924007	OMIM:615441|ORPHA:3286|ORPHA:101016	Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness|Catecholaminergic Polymorphic Ventricular Tachycardia|Romano-Ward Syndrome	no	no	no	no	NA
TREH	HGNC:12266	MGI:1926230	OMIM:612119|ORPHA:103909	Trehalase Deficiency	yes	yes	yes	no	NA
TREM1	HGNC:17760	MGI:1930005	-	-	yes	no	no	no	NA
TREM2	HGNC:17761	MGI:1913150	OMIM:618193|ORPHA:803|ORPHA:1020|ORPHA:2770|ORPHA:275864|ORPHA:238616|ORPHA:100069|ORPHA:100070	Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2|Amyotrophic Lateral Sclerosis|Early-Onset Autosomal Dominant Alzheimer Disease|Nasu-Hakola Disease|Behavioral Variant Of Frontotemporal Dementia|Non Rare In Europe: Alzheimer Disease|Semantic Dementia|Progressive Non-Fluent Aphasia	no	no	no	no	NA
TREML1	HGNC:20434	MGI:1918576	-	-	yes	no	no	no	NA
TREML2	HGNC:21092	MGI:2147038	-	-	no	no	no	no	NA
TREML4	HGNC:30807	MGI:1923239	-	-	no	no	no	no	NA
TRERF1	HGNC:18273	MGI:2442086	-	-	no	no	no	no	NA
TREX1	HGNC:12269	MGI:1328317	OMIM:225750|OMIM:610448|OMIM:192315|OMIM:152700|ORPHA:536|ORPHA:51|ORPHA:247691|ORPHA:481662	Aicardi-Goutieres Syndrome 1|Chilblain Lupus 1|Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations|Systemic Lupus Erythematosus|Aicardi-Goutières Syndrome|Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations|Familial Chilblain Lupus	yes	no	yes	no	NA
TREX2	HGNC:12270	MGI:1346343	-	-	no	no	no	no	NA
TRH	HGNC:12298	MGI:98823	OMIM:275120|ORPHA:238670	Thyrotropin-Releasing Hormone Deficiency|Isolated Thyrotropin-Releasing Hormone Deficiency	yes	yes	yes	no	NA
TRHDE	HGNC:30748	MGI:2384311	-	-	no	no	no	no	NA
TRHR	HGNC:12299	MGI:98824	OMIM:618573|ORPHA:99832	Hypothyroidism, Congenital, Nongoitrous, 7|Resistance To Thyrotropin-Releasing Hormone Syndrome	no	no	no	no	NA
TRIAP1	HGNC:26937	MGI:1916326	-	-	no	no	no	no	NA
TRIB1	HGNC:16891	MGI:2443397	-	-	yes	no	no	no	NA
TRIB2	HGNC:30809	MGI:2145021	-	-	yes	no	no	no	NA
TRIB3	HGNC:16228	MGI:1345675	-	-	yes	no	no	no	NA
TRIL	HGNC:22200	MGI:1914123	-	-	no	no	no	no	NA
TRIM10	HGNC:10072	MGI:1338757	-	-	yes	no	no	no	NA
TRIM11	HGNC:16281	MGI:2137355	-	-	no	no	no	no	NA
TRIM13	HGNC:9976	MGI:1913847	-	-	yes	no	no	no	NA
TRIM14	HGNC:16283	MGI:1921985	-	-	yes	no	no	no	NA
TRIM15	HGNC:16284	MGI:1916347	-	-	yes	no	no	no	NA
TRIM16	HGNC:17241	MGI:2137356	-	-	yes	no	no	no	NA
TRIM17	HGNC:13430	MGI:1861440	-	-	yes	no	no	no	NA
TRIM2	HGNC:15974	MGI:1933163	OMIM:615490|ORPHA:397968	Charcot-Marie-Tooth Disease, Axonal, Type 2R|Charcot-Marie-Tooth Disease Type 2R	yes	yes	yes	no	NA
TRIM21	HGNC:11312	MGI:106657	-	-	yes	no	no	no	NA
TRIM23	HGNC:660	MGI:1933161	-	-	no	no	no	no	NA
TRIM24	HGNC:11812	MGI:109275	ORPHA:146	Differentiated Thyroid Carcinoma	no	no	no	no	NA
TRIM25	HGNC:12932	MGI:102749	-	-	yes	no	no	no	NA
TRIM26	HGNC:12962	MGI:1337056	-	-	no	no	no	no	NA
TRIM27	HGNC:9975	MGI:97904	ORPHA:146	Differentiated Thyroid Carcinoma	no	no	no	no	NA
TRIM28	HGNC:16384	MGI:109274	ORPHA:654	Nephroblastoma	no	no	no	no	NA
TRIM29	HGNC:17274	MGI:1919419	-	-	yes	no	no	no	NA
TRIM3	HGNC:10064	MGI:1860040	-	-	yes	no	no	no	NA
TRIM31	HGNC:16289	MGI:2385051	-	-	yes	no	no	no	NA
TRIM32	HGNC:16380	MGI:1917057	OMIM:615988|OMIM:254110|ORPHA:1878|ORPHA:110	Bardet-Biedl Syndrome 11|Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8|Trim32-Related Limb-Girdle Muscular Dystrophy R8|Bardet-Biedl Syndrome	no	no	no	no	NA
TRIM33	HGNC:16290	MGI:2137357	ORPHA:146	Differentiated Thyroid Carcinoma	yes	yes	no	no	NA
TRIM35	HGNC:16285	MGI:1914104	-	-	yes	no	no	no	NA
TRIM36	HGNC:16280	MGI:106264	OMIM:206500	Anencephaly 1	no	no	no	no	NA
TRIM37	HGNC:7523	MGI:2153072	OMIM:253250|ORPHA:2576	Mulibrey Nanism	yes	yes	yes	yes	38.415
TRIM38	HGNC:10059	MGI:2684869	-	-	no	no	no	no	NA
TRIM39	HGNC:10065	MGI:1890659	-	-	yes	no	no	no	NA
TRIM40	HGNC:18736	MGI:2684881	-	-	no	no	no	no	NA
TRIM41	HGNC:19013	MGI:2384814	-	-	no	no	no	no	NA
TRIM42	HGNC:19014	MGI:1926161	-	-	no	no	no	no	NA
TRIM44	HGNC:19016	MGI:1931835	OMIM:617142|ORPHA:250923	Aniridia 3|Isolated Aniridia	no	no	no	no	NA
TRIM45	HGNC:19018	MGI:1918187	-	-	yes	no	no	no	NA
TRIM46	HGNC:19019	MGI:2673000	-	-	yes	no	no	no	NA
TRIM47	HGNC:19020	MGI:1917374	-	-	yes	no	no	no	NA
TRIM50	HGNC:19017	MGI:2664992	-	-	yes	no	no	no	NA
TRIM52	HGNC:19024	MGI:3045276	-	-	no	no	no	no	NA
TRIM54	HGNC:16008	MGI:1889623	-	-	no	no	no	no	NA
TRIM55	HGNC:14215	MGI:3036269	-	-	yes	no	no	no	NA
TRIM56	HGNC:19028	MGI:2685298	-	-	yes	no	no	no	NA
TRIM58	HGNC:24150	MGI:2684862	-	-	yes	no	no	no	NA
TRIM59	HGNC:30834	MGI:1914199	-	-	yes	no	no	no	NA
TRIM6	HGNC:16277	MGI:2137352	-	-	yes	no	no	no	NA
TRIM60	HGNC:21162	MGI:2387430	-	-	no	no	no	no	NA
TRIM61	HGNC:24339	MGI:2387432	-	-	yes	no	no	no	NA
TRIM62	HGNC:25574	MGI:1914775	-	-	no	no	no	no	NA
TRIM63	HGNC:16007	MGI:2447992	-	-	no	no	no	no	NA
TRIM65	HGNC:27316	MGI:2442815	-	-	yes	no	no	no	NA
TRIM66	HGNC:29005	MGI:2152406	-	-	yes	no	no	no	NA
TRIM67	HGNC:31859	MGI:3045323	-	-	no	no	no	no	NA
TRIM68	HGNC:21161	MGI:2142077	-	-	yes	no	no	no	NA
TRIM69	HGNC:17857	MGI:1918178	-	-	yes	no	no	no	NA
TRIM7	HGNC:16278	MGI:2137353	-	-	yes	no	no	no	NA
TRIM71	HGNC:32669	MGI:2685973	OMIM:618667|ORPHA:269505	Hydrocephalus, Congenital, 4|Congenital Communicating Hydrocephalus	yes	yes	yes	no	NA
TRIM72	HGNC:32671	MGI:3612190	-	-	no	no	no	no	NA
TRIM75	HGNC:32686	MGI:2685640	-	-	no	no	no	no	NA
TRIM8	HGNC:15579	MGI:1933302	OMIM:619428|ORPHA:1934	Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome|Early Infantile Epileptic Encephalopathy	yes	yes	yes	no	NA
TRIM9	HGNC:16288	MGI:2137354	-	-	yes	no	no	no	NA
TRIML1	HGNC:26698	MGI:2687279	-	-	no	no	no	no	NA
TRIML2	HGNC:26378	MGI:3642989	-	-	no	no	no	no	NA
TRIO	HGNC:12303	MGI:1927230	OMIM:617061|OMIM:618825|ORPHA:476126	Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly|Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly|Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	yes	yes	yes	no	NA
TRIOBP	HGNC:17009	MGI:1349410	OMIM:609823|ORPHA:90636	Deafness, Autosomal Recessive 28|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	yes	yes	yes	yes	34.22
TRIP10	HGNC:12304	MGI:2146901	-	-	no	no	no	no	NA
TRIP11	HGNC:12305	MGI:1924393	OMIM:200600|OMIM:184260|ORPHA:166272|ORPHA:93299	Achondrogenesis, Type Ia|Odontochondrodysplasia 1|Odontochondrodysplasia|Achondrogenesis Type 1A	no	no	no	no	NA
TRIP12	HGNC:12306	MGI:1309481	OMIM:617752|ORPHA:528084	Clark-Baraitser Syndrome|Non-Specific Syndromic Intellectual Disability	no	no	no	no	NA
TRIP13	HGNC:12307	MGI:1916966	OMIM:617598|OMIM:619011|ORPHA:654|ORPHA:1052	Mosaic Variegated Aneuploidy Syndrome 3|Oocyte/Zygote/Embryo Maturation Arrest 9|Nephroblastoma|Mosaic Variegated Aneuploidy Syndrome	yes	yes	yes	yes	83.76
TRIP4	HGNC:12310	MGI:1928469	OMIM:617066|OMIM:616866|ORPHA:486811|ORPHA:486815	Muscular Dystrophy, Congenital, Davignon-Chauveau Type|Spinal Muscular Atrophy With Congenital Bone Fractures 1|Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures|Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	yes	no	yes	no	NA
TRIP6	HGNC:12311	MGI:1343458	-	-	yes	no	no	no	NA
TRIQK	HGNC:27828	MGI:3650048	-	-	no	no	no	no	NA
TRIR	HGNC:28424	MGI:1922833	-	-	no	no	no	no	NA
TRIT1	HGNC:20286	MGI:1914216	OMIM:617873	Combined Oxidative Phosphorylation Deficiency 35	yes	yes	yes	no	NA
TRMO	HGNC:30967	MGI:1922003	-	-	yes	no	no	no	NA
TRMT1	HGNC:25980	MGI:1289155	OMIM:618302|ORPHA:528084	Intellectual Developmental Disorder, Autosomal Recessive 68|Non-Specific Syndromic Intellectual Disability	yes	yes	yes	no	NA
TRMT10A	HGNC:28403	MGI:1920421	OMIM:616033|ORPHA:391408	Microcephaly, Short Stature, And Impaired Glucose Metabolism 1|Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	yes	yes	yes	yes	39.775
TRMT10B	HGNC:26454	MGI:1917184	-	-	yes	no	no	no	NA
TRMT10C	HGNC:26022	MGI:1196261	OMIM:616974|ORPHA:478042	Combined Oxidative Phosphorylation Deficiency 30|Combined Oxidative Phosphorylation Defect Type 30	no	no	no	no	NA
TRMT11	HGNC:21080	MGI:1920931	-	-	no	no	no	no	NA
TRMT112	HGNC:26940	MGI:1914924	-	-	no	no	no	no	NA
TRMT12	HGNC:26091	MGI:1915510	-	-	no	no	no	no	NA
TRMT13	HGNC:25502	MGI:1925219	-	-	no	no	no	no	NA
TRMT1L	HGNC:16782	MGI:1916185	-	-	yes	no	no	no	NA
TRMT2A	HGNC:24974	MGI:96270	-	-	yes	no	no	no	NA
TRMT2B	HGNC:25748	MGI:2442530	-	-	yes	no	no	no	NA
TRMT44	HGNC:26653	MGI:1926140	-	-	yes	no	no	no	NA
TRMT5	HGNC:23141	MGI:1923607	OMIM:616539|ORPHA:477684	Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay|Combined Oxidative Phosphorylation Defect Type 26	yes	yes	yes	no	NA
TRMT6	HGNC:20900	MGI:1914176	-	-	no	no	no	no	NA
TRMT61A	HGNC:23790	MGI:2443487	-	-	no	no	no	no	NA
TRMT9B	HGNC:26725	MGI:2442328	-	-	yes	no	no	no	NA
TRMU	HGNC:25481	MGI:1919276	OMIM:613070|OMIM:580000|ORPHA:254864|ORPHA:217371|ORPHA:90641	Liver Failure, Infantile, Transient|Deafness, Aminoglycoside-Induced|Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency|Acute Infantile Liver Failure Due To Synthesis Defect Of Mtdna-Encoded Proteins|Rare Mitochondrial Non-Syndromic Sensorineural Deafness	no	no	no	no	NA
TRNAU1AP	HGNC:30813	MGI:1919037	-	-	no	no	no	no	NA
TRNP1	HGNC:34348	MGI:1916789	-	-	yes	no	no	no	NA
TRNT1	HGNC:17341	MGI:1917297	OMIM:616959|OMIM:616084|ORPHA:369861	Retinitis Pigmentosa And Erythrocytic Microcytosis|Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay|Congenital Sideroblastic Anemia-B-Cell Immunodeficiency-Periodic Fever-Developmental Delay Syndrome	yes	yes	yes	yes	46.415
TRO	HGNC:12326	MGI:1928994	-	-	no	no	no	no	NA
TROAP	HGNC:12327	MGI:1925983	-	-	no	no	no	no	NA
TRPA1	HGNC:497	MGI:3522699	OMIM:615040|ORPHA:391389|ORPHA:581271	Episodic Pain Syndrome, Familial, 1|Familial Episodic Pain Syndrome With Predominantly Upper Body Involvement|Cramp-Fasciculation Syndrome	yes	yes	yes	no	NA
TRPC1	HGNC:12333	MGI:109528	-	-	yes	no	no	no	NA
TRPC3	HGNC:12335	MGI:109526	OMIM:616410|ORPHA:458798	Spinocerebellar Ataxia 41|Spinocerebellar Ataxia Type 41	yes	yes	yes	yes	49.185
TRPC4	HGNC:12336	MGI:109525	-	-	no	no	no	no	NA
TRPC4AP	HGNC:16181	MGI:1930751	-	-	no	no	no	no	NA
TRPC5	HGNC:12337	MGI:109524	-	-	yes	no	no	no	NA
TRPC5OS	HGNC:40593	MGI:3641805	-	-	no	no	no	no	NA
TRPC6	HGNC:12338	MGI:109523	OMIM:603965|ORPHA:656	Focal Segmental Glomerulosclerosis 2|Genetic Steroid-Resistant Nephrotic Syndrome	yes	no	yes	no	NA
TRPC7	HGNC:20754	MGI:1349470	-	-	no	no	no	no	NA
TRPM1	HGNC:7146	MGI:1330305	OMIM:613216|ORPHA:215	Night Blindness, Congenital Stationary, Type 1C|Congenital Stationary Night Blindness	yes	yes	yes	yes	26.58
TRPM2	HGNC:12339	MGI:1351901	-	-	yes	no	no	no	NA
TRPM3	HGNC:17992	MGI:2443101	OMIM:620253|OMIM:620224|ORPHA:178469	Cataract 50 With Or Without Glaucoma|Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures|Autosomal Dominant Non-Syndromic Intellectual Disability	yes	yes	yes	no	NA
TRPM4	HGNC:17993	MGI:1915917	OMIM:618531|OMIM:604559|ORPHA:871|ORPHA:130|ORPHA:316	Erythrokeratodermia Variabilis Et Progressiva 6|Progressive Familial Heart Block, Type Ib|Familial Progressive Cardiac Conduction Defect|Brugada Syndrome|Progressive Symmetric Erythrokeratodermia	no	no	no	no	NA
TRPM5	HGNC:14323	MGI:1861718	-	-	no	no	no	no	NA
TRPM6	HGNC:17995	MGI:2675603	OMIM:602014|ORPHA:30924	Hypomagnesemia 1, Intestinal|Primary Hypomagnesemia With Secondary Hypocalcemia	yes	yes	yes	yes	41.265
TRPM7	HGNC:17994	MGI:1929996	OMIM:105500|ORPHA:140957|ORPHA:90020	Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1|Autosomal Dominant Macrothrombocytopenia|Parkinson-Dementia Complex Of Guam	yes	yes	yes	no	NA
TRPM8	HGNC:17961	MGI:2181435	-	-	no	no	no	no	NA
TRPS1	HGNC:12340	MGI:1927616	OMIM:190350|OMIM:190351|ORPHA:502|ORPHA:77258	Trichorhinophalangeal Syndrome, Type I|Trichorhinophalangeal Syndrome, Type Iii|Trichorhinophalangeal Syndrome Type 2|Trichorhinophalangeal Syndrome Type 1	yes	yes	yes	no	NA
TRPT1	HGNC:20316	MGI:1333115	-	-	no	no	no	no	NA
TRPV1	HGNC:12716	MGI:1341787	-	-	no	no	no	no	NA
TRPV2	HGNC:18082	MGI:1341836	-	-	no	no	no	no	NA
TRPV3	HGNC:18084	MGI:2181407	OMIM:616400|OMIM:614594|ORPHA:448264|ORPHA:659	Palmoplantar Keratoderma, Nonepidermolytic, Focal 2|Olmsted Syndrome 1|Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma|Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	no	no	no	no	NA
TRPV4	HGNC:18083	MGI:1926945	OMIM:617383|OMIM:113500|OMIM:606835|OMIM:606071|OMIM:156530|OMIM:600175|OMIM:168400|OMIM:184095|OMIM:181405|OMIM:184252|OMIM:613508|ORPHA:2635|ORPHA:1216|ORPHA:2646|ORPHA:263482|ORPHA:431255|ORPHA:93304|ORPHA:93314|ORPHA:86820|ORPHA:85169|ORPHA:99937	Avascular Necrosis Of Femoral Head, Primary, 2|Brachyolmia Type 3|Digital Arthropathy-Brachydactyly, Familial|Hereditary Motor And Sensory Neuropathy, Type Iic|Metatropic Dysplasia|Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8|Parastremmatic Dwarfism|Spondyloepiphyseal Dysplasia, Maroteaux Type|Scapuloperoneal Spinal Muscular Atrophy|Spondylometaphyseal Dysplasia, Kozlowski Type|Sodium Serum Level Quantitative Trait Locus 1|Autosomal Dominant Congenital Benign Spinal Muscular Atrophy|Autosomal Dominant Brachyolmia|Familial Avascular Necrosis Of Femoral Head|Familial Digital Arthropathy-Brachydactyly|Autosomal Dominant Charcot-Marie-Tooth Disease Type 2C	no	no	no	no	NA
TRPV5	HGNC:3145	MGI:2429764	-	-	no	no	no	no	NA
TRPV6	HGNC:14006	MGI:1927259	OMIM:618188|ORPHA:417	Hyperparathyroidism, Transient Neonatal|Neonatal Severe Primary Hyperparathyroidism	no	no	no	no	NA
TRRAP	HGNC:12347	MGI:2153272	OMIM:618778|OMIM:618454|ORPHA:90635	Deafness, Autosomal Dominant 75|Developmental Delay With Or Without Dysmorphic Facies And Autism|Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	yes	yes	yes	no	NA
TRUB1	HGNC:16060	MGI:1919383	-	-	yes	no	no	no	NA
TRUB2	HGNC:17170	MGI:2442186	-	-	yes	no	no	no	NA
TSACC	HGNC:30636	MGI:1924177	-	-	no	no	no	no	NA
TSBP1	HGNC:13922	MGI:3039565	-	-	no	no	no	no	NA
TSC1	HGNC:12362	MGI:1929183	OMIM:607341|OMIM:606690|OMIM:191100|ORPHA:805|ORPHA:269008|ORPHA:210159|ORPHA:538	Focal Cortical Dysplasia, Type Ii|Lymphangioleiomyomatosis|Tuberous Sclerosis 1|Tuberous Sclerosis Complex|Isolated Focal Cortical Dysplasia Type Iib|Adult Hepatocellular Carcinoma	no	no	no	no	NA
TSC2	HGNC:12363	MGI:102548	OMIM:607341|OMIM:606690|OMIM:613254|ORPHA:805|ORPHA:269008|ORPHA:269001|ORPHA:210159|ORPHA:538|ORPHA:88924	Focal Cortical Dysplasia, Type Ii|Lymphangioleiomyomatosis|Tuberous Sclerosis 2|Tuberous Sclerosis Complex|Isolated Focal Cortical Dysplasia Type Iib|Isolated Focal Cortical Dysplasia Type Iia|Adult Hepatocellular Carcinoma|Autosomal Dominant Polycystic Kidney Disease Type 1 With Tuberous Sclerosis	no	no	no	no	NA
TSC22D1	HGNC:16826	MGI:109127	-	-	no	no	no	no	NA
TSC22D2	HGNC:29095	MGI:1919283	-	-	no	no	no	no	NA
TSC22D3	HGNC:3051	MGI:1196284	-	-	no	no	no	no	NA
TSEN15	HGNC:16791	MGI:1913887	OMIM:617026|ORPHA:2524	Pontocerebellar Hypoplasia, Type 2F|Pontocerebellar Hypoplasia Type 2	no	no	no	no	NA
TSEN2	HGNC:28422	MGI:2141599	OMIM:612389|ORPHA:2524	Pontocerebellar Hypoplasia, Type 2B|Pontocerebellar Hypoplasia Type 2	no	no	no	no	NA
TSEN34	HGNC:15506	MGI:1913328	OMIM:612390|ORPHA:2524	Pontocerebellar Hypoplasia, Type 2C|Pontocerebellar Hypoplasia Type 2	no	no	no	no	NA
TSEN54	HGNC:27561	MGI:1923515	OMIM:610204|OMIM:277470|OMIM:225753|ORPHA:166063|ORPHA:2524	Pontocerebellar Hypoplasia, Type 5|Pontocerebellar Hypoplasia, Type 2A|Pontocerebellar Hypoplasia, Type 4|Pontocerebellar Hypoplasia Type 4|Pontocerebellar Hypoplasia Type 2	yes	yes	yes	no	NA
TSFM	HGNC:12367	MGI:1913649	OMIM:610505|ORPHA:168566	Combined Oxidative Phosphorylation Deficiency 3|Fatal Mitochondrial Disease Due To Combined Oxidative Phosphorylation Defect Type 3	yes	yes	yes	yes	22.76
TSG101	HGNC:15971	MGI:106581	-	-	yes	no	no	no	NA
TSGA10	HGNC:14927	MGI:2685063	OMIM:617961	Spermatogenic Failure 26	no	no	no	no	NA
TSGA10IP	HGNC:26555	MGI:1925556	-	-	no	no	no	no	NA
TSGA13	HGNC:12369	MGI:1891413	-	-	yes	no	no	no	NA
TSHB	HGNC:12372	MGI:98848	OMIM:275100|ORPHA:90674	Hypothyroidism, Congenital, Nongoitrous, 4|Isolated Thyroid-Stimulating Hormone Deficiency	no	no	no	no	NA
TSHR	HGNC:12373	MGI:98849	OMIM:603373|OMIM:609152|OMIM:275200|ORPHA:424|ORPHA:90673|ORPHA:95713|ORPHA:95720|ORPHA:99819	Hyperthyroidism, Familial Gestational|Hyperthyroidism, Nonautoimmune|Hypothyroidism, Congenital, Nongoitrous, 1|Familial Hyperthyroidism Due To Mutations In Tsh Receptor|Hypothyroidism Due To Tsh Receptor Mutations|Athyreosis|Thyroid Hypoplasia|Familial Gestational Hyperthyroidism	no	no	no	no	NA
TSHZ1	HGNC:10669	MGI:1346031	OMIM:607842|ORPHA:141074	Aural Atresia, Congenital|External Auditory Canal Aplasia/Hypoplasia	no	no	no	no	NA
TSHZ2	HGNC:13010	MGI:2153084	-	-	yes	no	no	no	NA
TSHZ3	HGNC:30700	MGI:2442819	-	-	no	no	no	no	NA
TSKS	HGNC:30719	MGI:1347560	-	-	yes	no	no	no	NA
TSKU	HGNC:28850	MGI:2443855	-	-	no	no	no	no	NA
TSLP	HGNC:30743	MGI:1855696	-	-	yes	no	no	no	NA
TSN	HGNC:12379	MGI:109263	-	-	no	no	no	no	NA
TSNAX	HGNC:12380	MGI:1855672	-	-	no	no	no	no	NA
TSNAXIP1	HGNC:18586	MGI:1919486	-	-	no	no	no	no	NA
TSPAN1	HGNC:20657	MGI:1914055	-	-	no	no	no	no	NA
TSPAN10	HGNC:29942	MGI:2384781	-	-	no	no	no	no	NA
TSPAN11	HGNC:30795	MGI:1915748	-	-	yes	no	no	no	NA
TSPAN12	HGNC:21641	MGI:1889818	OMIM:613310|ORPHA:891	Exudative Vitreoretinopathy 5|Familial Exudative Vitreoretinopathy	no	no	no	no	NA
TSPAN13	HGNC:21643	MGI:1913359	-	-	yes	no	no	no	NA
TSPAN14	HGNC:23303	MGI:1196325	-	-	yes	no	no	no	NA
TSPAN15	HGNC:23298	MGI:1917673	-	-	yes	no	no	no	NA
TSPAN17	HGNC:13594	MGI:1921507	-	-	yes	no	no	no	NA
TSPAN18	HGNC:20660	MGI:1917186	-	-	yes	no	no	no	NA
TSPAN2	HGNC:20659	MGI:1917997	-	-	no	no	no	no	NA
TSPAN3	HGNC:17752	MGI:1928098	-	-	no	no	no	no	NA
TSPAN31	HGNC:10539	MGI:1914375	-	-	no	no	no	no	NA
TSPAN32	HGNC:13410	MGI:1350360	-	-	yes	no	no	no	NA
TSPAN33	HGNC:28743	MGI:1919012	-	-	no	no	no	no	NA
TSPAN4	HGNC:11859	MGI:1928097	-	-	no	no	no	no	NA
TSPAN5	HGNC:17753	MGI:1928096	-	-	yes	no	no	no	NA
TSPAN6	HGNC:11858	MGI:1926264	-	-	no	no	no	no	NA
TSPAN7	HGNC:11854	MGI:1298407	OMIM:300210|ORPHA:777	Intellectual Developmental Disorder, X-Linked 58|X-Linked Non-Syndromic Intellectual Disability	yes	yes	yes	no	NA
TSPAN8	HGNC:11855	MGI:2384918	-	-	yes	no	no	no	NA
TSPAN9	HGNC:21640	MGI:1924558	-	-	yes	no	no	no	NA
TSPEAR	HGNC:1268	MGI:2671932	OMIM:614861|OMIM:618180|OMIM:620173|ORPHA:90636	Deafness, Autosomal Recessive 98|Ectodermal Dysplasia 14, Hair/Tooth Type, With Or Without Hypohidrosis|Tooth Agenesis, Selective, 10|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	no	no	no	no	NA
TSPO	HGNC:1158	MGI:88222	-	-	yes	no	no	no	NA
TSPO2	HGNC:21256	MGI:1917276	-	-	no	no	no	no	NA
TSPOAP1	HGNC:16831	MGI:2450877	OMIM:620456|OMIM:620453|ORPHA:101150	Dystonia 22, Adult-Onset|Dystonia 22, Juvenile-Onset|Autosomal Recessive Dopa-Responsive Dystonia	yes	yes	yes	no	NA
TSPYL1	HGNC:12382	MGI:1298395	OMIM:608800|ORPHA:168593	Sudden Infant Death With Dysgenesis Of The Testes Syndrome|Sudden Infant Death-Dysgenesis Of The Testes Syndrome	yes	yes	yes	no	NA
TSPYL2	HGNC:24358	MGI:106244	-	-	yes	no	no	no	NA
TSPYL4	HGNC:21559	MGI:106393	-	-	yes	no	no	no	NA
TSPYL5	HGNC:29367	MGI:2442458	-	-	no	no	no	no	NA
TSR1	HGNC:25542	MGI:2144566	-	-	no	no	no	no	NA
TSR2	HGNC:25455	MGI:1916749	OMIM:300946|ORPHA:124	Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis|Diamond-Blackfan Anemia	no	no	no	no	NA
TSR3	HGNC:14175	MGI:1915577	-	-	no	no	no	no	NA
TSSC4	HGNC:12386	MGI:1861712	-	-	no	no	no	no	NA
TSSK1B	HGNC:14968	MGI:1347557	-	-	no	no	no	no	NA
TSSK2	HGNC:11401	MGI:1347559	-	-	no	no	no	no	NA
TSSK3	HGNC:15473	MGI:1929914	-	-	no	no	no	no	NA
TSSK4	HGNC:19825	MGI:1918349	-	-	yes	no	no	no	NA
TSSK6	HGNC:30410	MGI:2148775	-	-	no	no	no	no	NA
TST	HGNC:12388	MGI:98852	-	-	yes	no	no	no	NA
TSTD1	HGNC:35410	MGI:3648482	-	-	yes	no	no	no	NA
TSTD2	HGNC:30087	MGI:3039624	-	-	no	no	no	no	NA
TSTD3	HGNC:40910	MGI:1924282	-	-	no	no	no	no	NA
TTBK1	HGNC:19140	MGI:2147036	-	-	yes	no	no	no	NA
TTBK2	HGNC:19141	MGI:2155779	OMIM:604432|ORPHA:98767	Spinocerebellar Ataxia 11|Spinocerebellar Ataxia Type 11	yes	yes	yes	no	NA
TTC1	HGNC:12391	MGI:1914077	-	-	yes	no	no	no	NA
TTC12	HGNC:23700	MGI:2444588	OMIM:618801|ORPHA:244	Ciliary Dyskinesia, Primary, 45|Primary Ciliary Dyskinesia	no	no	no	no	NA
TTC13	HGNC:26204	MGI:2384573	-	-	no	no	no	no	NA
TTC14	HGNC:24697	MGI:1914370	-	-	no	no	no	no	NA
TTC16	HGNC:26536	MGI:2443048	-	-	no	no	no	no	NA
TTC17	HGNC:25596	MGI:1921819	-	-	yes	no	no	no	NA
TTC19	HGNC:26006	MGI:1920045	OMIM:615157|ORPHA:1460	Mitochondrial Complex Iii Deficiency, Nuclear Type 2|Isolated Complex Iii Deficiency	no	no	no	no	NA
TTC21A	HGNC:30761	MGI:1921302	OMIM:618429|ORPHA:276234	Spermatogenic Failure 37|Non-Syndromic Male Infertility Due To Sperm Motility Disorder	no	no	no	no	NA
TTC21B	HGNC:25660	MGI:1920918	OMIM:613820|OMIM:613819|ORPHA:474|ORPHA:93591	Nephronophthisis 12|Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly|Jeune Syndrome|Infantile Nephronophthisis	no	no	no	no	NA
TTC22	HGNC:26067	MGI:3045307	-	-	no	no	no	no	NA
TTC23	HGNC:25730	MGI:1914259	-	-	no	no	no	no	NA
TTC23L	HGNC:26355	MGI:1923027	-	-	no	no	no	no	NA
TTC24	HGNC:32348	MGI:2443841	-	-	no	no	no	no	NA
TTC27	HGNC:25986	MGI:1921446	-	-	no	no	no	no	NA
TTC28	HGNC:29179	MGI:2140873	-	-	yes	no	no	no	NA
TTC29	HGNC:29936	MGI:1920551	OMIM:618745|ORPHA:276234	Spermatogenic Failure 42|Non-Syndromic Male Infertility Due To Sperm Motility Disorder	yes	yes	yes	no	NA
TTC3	HGNC:12393	MGI:1276539	-	-	no	no	no	no	NA
TTC32	HGNC:32954	MGI:1922766	-	-	yes	no	no	no	NA
TTC33	HGNC:29959	MGI:1914765	-	-	no	no	no	no	NA
TTC34	HGNC:34297	MGI:2445205	-	-	no	no	no	no	NA
TTC36	HGNC:33708	MGI:2384760	-	-	no	no	no	no	NA
TTC38	HGNC:26082	MGI:2146198	-	-	yes	no	no	no	NA
TTC39A	HGNC:18657	MGI:2444350	-	-	yes	no	no	no	NA
TTC39B	HGNC:23704	MGI:1917113	-	-	yes	no	no	no	NA
TTC39C	HGNC:26595	MGI:1919997	-	-	yes	no	no	no	NA
TTC4	HGNC:12394	MGI:1919604	-	-	yes	no	no	no	NA
TTC5	HGNC:19274	MGI:2683584	OMIM:619244|ORPHA:88616	Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism|Autosomal Recessive Non-Syndromic Intellectual Disability	yes	yes	yes	no	NA
TTC7A	HGNC:19750	MGI:1920999	OMIM:243150|ORPHA:2300|ORPHA:436252	Gastrointestinal Defects And Immunodeficiency Syndrome 1|Multiple Intestinal Atresia|Combined Immunodeficiency-Enteropathy Spectrum	yes	yes	yes	yes	29.81
TTC7B	HGNC:19858	MGI:2144724	-	-	yes	no	no	no	NA
TTC8	HGNC:20087	MGI:1923510	OMIM:613464|OMIM:615985|ORPHA:791|ORPHA:110	Retinitis Pigmentosa 51|Bardet-Biedl Syndrome 8|Retinitis Pigmentosa|Bardet-Biedl Syndrome	no	no	no	no	NA
TTC9	HGNC:20267	MGI:1916730	-	-	no	no	no	no	NA
TTC9B	HGNC:26395	MGI:1920282	-	-	no	no	no	no	NA
TTC9C	HGNC:28432	MGI:1917637	-	-	no	no	no	no	NA
TTF1	HGNC:12397	MGI:105044	-	-	no	no	no	no	NA
TTF2	HGNC:12398	MGI:1921294	-	-	no	no	no	no	NA
TTI1	HGNC:29029	MGI:1922675	OMIM:620445	Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities	no	no	no	no	NA
TTI2	HGNC:26262	MGI:2384576	OMIM:615541|ORPHA:391307	Intellectual Developmental Disorder, Autosomal Recessive 39|Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	yes	yes	yes	yes	46.01
TTK	HGNC:12401	MGI:1194921	-	-	yes	no	no	no	NA
TTL	HGNC:21586	MGI:1916987	-	-	yes	no	no	no	NA
TTLL1	HGNC:1312	MGI:2443047	-	-	yes	no	no	no	NA
TTLL10	HGNC:26693	MGI:1921855	-	-	yes	no	no	no	NA
TTLL11	HGNC:18113	MGI:1921660	-	-	yes	no	no	no	NA
TTLL12	HGNC:28974	MGI:3039573	-	-	yes	no	no	no	NA
TTLL13	HGNC:32484	MGI:1920845	-	-	no	no	no	no	NA
TTLL2	HGNC:21211	MGI:3644030	-	-	no	no	no	no	NA
TTLL3	HGNC:24483	MGI:2141418	-	-	yes	no	no	no	NA
TTLL4	HGNC:28976	MGI:1914784	-	-	yes	no	no	no	NA
TTLL5	HGNC:19963	MGI:2443657	OMIM:615860|ORPHA:1872	Cone-Rod Dystrophy 19|Cone Rod Dystrophy	no	no	no	no	NA
TTLL6	HGNC:26664	MGI:2683461	-	-	yes	no	no	no	NA
TTLL7	HGNC:26242	MGI:1918142	-	-	yes	no	no	no	NA
TTLL8	HGNC:34000	MGI:1922902	-	-	yes	no	no	no	NA
TTLL9	HGNC:16118	MGI:1913589	-	-	no	no	no	no	NA
TTN	HGNC:12403	MGI:98864	OMIM:604145|OMIM:613765|OMIM:611705|OMIM:608807|OMIM:603689|OMIM:600334|ORPHA:169186|ORPHA:154|ORPHA:155|ORPHA:178464|ORPHA:140922|ORPHA:324604|ORPHA:293910|ORPHA:293899|ORPHA:293888|ORPHA:289377|ORPHA:466921|ORPHA:609|ORPHA:334	Cardiomyopathy, Dilated, 1G|Cardiomyopathy, Familial Hypertrophic, 9|Congenital Myopathy 5 With Cardiomyopathy|Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10|Myopathy, Myofibrillar, 9, With Early Respiratory Failure|Tibial Muscular Dystrophy, Tardive|Autosomal Recessive Centronuclear Myopathy|Familial Isolated Dilated Cardiomyopathy|Non Rare In Europe: Familial Isolated Hypertrophic Cardiomyopathy|Hereditary Myopathy With Early Respiratory Failure|Titin-Related Limb-Girdle Muscular Dystrophy R10|Classic Multiminicore Myopathy|Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form|Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form|Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form|Early-Onset Myopathy With Fatal Cardiomyopathy|Childhood-Onset Progressive Contractures-Limb-Girdle Weakness-Muscle Dystrophy Syndrome|Tibial Muscular Dystrophy|Familial Atrial Fibrillation	no	no	no	no	NA
TTPA	HGNC:12404	MGI:1354168	OMIM:277460|ORPHA:96	Ataxia With Vitamin E Deficiency	no	no	no	no	NA
TTPAL	HGNC:16114	MGI:1923330	-	-	no	no	no	no	NA
TTR	HGNC:12405	MGI:98865	OMIM:105210|OMIM:115430|OMIM:145680|ORPHA:85447|ORPHA:85451|ORPHA:597939	Amyloidosis, Hereditary, Transthyretin-Related|Carpal Tunnel Syndrome 1|Hyperthyroxinemia, Dystransthyretinemic|Attrv30M Amyloidosis|Attrv122I Amyloidosis|Euthyroid Dysprealbuminemic Hyperthyroxinemia	yes	yes	yes	yes	25.495
TTYH1	HGNC:13476	MGI:1889007	-	-	no	no	no	no	NA
TTYH2	HGNC:13877	MGI:2157091	-	-	yes	no	no	no	NA
TTYH3	HGNC:22222	MGI:1925589	-	-	yes	no	no	no	NA
TUB	HGNC:12406	MGI:2651573	OMIM:616188|ORPHA:791	Retinal Dystrophy And Obesity|Retinitis Pigmentosa	no	no	no	no	NA
TUBA1A	HGNC:20766	MGI:98869	OMIM:611603|ORPHA:171680|ORPHA:994|ORPHA:467166|ORPHA:45358	Lissencephaly 3|Lissencephaly Due To Tuba1A Mutation|Fetal Akinesia Deformation Sequence|Tubulinopathy-Associated Dysgyria|Congenital Fibrosis Of Extraocular Muscles	yes	yes	yes	yes	30.35
TUBA1B	HGNC:18809	MGI:107804	-	-	no	no	no	no	NA
TUBA1C	HGNC:20768	MGI:1095409	-	-	yes	no	no	no	NA
TUBA3C	HGNC:12408	MGI:1095406	-	-	yes	no	no	no	NA
TUBA4A	HGNC:12407	MGI:1095410	OMIM:616208	Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia	no	no	no	no	NA
TUBA8	HGNC:12410	MGI:1858225	OMIM:619840|ORPHA:140957|ORPHA:250972	Macrothrombocytopenia, Isolated, 2, Autosomal Dominant|Autosomal Dominant Macrothrombocytopenia|Polymicrogyria With Optic Nerve Hypoplasia	yes	yes	yes	no	NA
TUBAL3	HGNC:23534	MGI:3588215	-	-	yes	no	no	no	NA
TUBB	HGNC:20778	MGI:107812	OMIM:615771|OMIM:156610|ORPHA:2505	Cortical Dysplasia, Complex, With Other Brain Malformations 6|Skin Creases, Congenital Symmetric Circumferential, 1|Multiple Benign Circumferential Skin Creases On Limbs	no	no	no	no	NA
TUBB1	HGNC:16257	MGI:107814	OMIM:613112|ORPHA:140957	Macrothrombocytopenia, Isolated, 1, Autosomal Dominant|Autosomal Dominant Macrothrombocytopenia	no	no	no	no	NA
TUBB2A	HGNC:12412	MGI:107861	OMIM:615763	Cortical Dysplasia, Complex, With Other Brain Malformations 5	yes	yes	yes	no	NA
TUBB2B	HGNC:30829	MGI:1920960	OMIM:610031|ORPHA:1766|ORPHA:300573|ORPHA:467166|ORPHA:45358	Cortical Dysplasia, Complex, With Other Brain Malformations 7|Dysequilibrium Syndrome|Polymicrogyria Due To Tubb2B Mutation|Tubulinopathy-Associated Dysgyria|Congenital Fibrosis Of Extraocular Muscles	yes	yes	yes	no	NA
TUBB3	HGNC:20772	MGI:107813	OMIM:614039|OMIM:600638|ORPHA:300570|ORPHA:467166|ORPHA:45358	Cortical Dysplasia, Complex, With Other Brain Malformations 1|Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement|Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation|Tubulinopathy-Associated Dysgyria|Congenital Fibrosis Of Extraocular Muscles	no	no	no	no	NA
TUBB4A	HGNC:20774	MGI:107848	OMIM:128101|OMIM:612438|ORPHA:139441|ORPHA:98805	Dystonia 4, Torsion, Autosomal Dominant|Leukodystrophy, Hypomyelinating, 6|Hypomyelination With Atrophy Of Basal Ganglia And Cerebellum|Primary Dystonia, Dyt4 Type	yes	yes	yes	no	NA
TUBB4B	HGNC:20771	MGI:1915472	OMIM:617879|ORPHA:65	Leber Congenital Amaurosis With Early-Onset Deafness|Leber Congenital Amaurosis	yes	yes	yes	no	NA
TUBB6	HGNC:20776	MGI:1915201	OMIM:617732	Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction	yes	no	yes	no	NA
TUBD1	HGNC:16811	MGI:1891826	-	-	no	no	no	no	NA
TUBE1	HGNC:20775	MGI:1919174	-	-	no	no	no	no	NA
TUBG1	HGNC:12417	MGI:101834	OMIM:615412|ORPHA:261183	Cortical Dysplasia, Complex, With Other Brain Malformations 4|15Q11.2 Microdeletion Syndrome	yes	yes	yes	yes	24.065
TUBG2	HGNC:12419	MGI:2144208	-	-	no	no	no	no	NA
TUBGCP2	HGNC:18599	MGI:1921487	OMIM:618737	Cortical Dysplasia, Complex, With Other Brain Malformations 15	yes	yes	yes	no	NA
TUBGCP3	HGNC:18598	MGI:2183752	-	-	no	no	no	no	NA
TUBGCP4	HGNC:16691	MGI:1196293	OMIM:616335|ORPHA:2518	Microcephaly And Chorioretinopathy, Autosomal Recessive, 3|Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	yes	yes	yes	no	NA
TUBGCP5	HGNC:18600	MGI:2178836	-	-	no	no	no	no	NA
TUBGCP6	HGNC:18127	MGI:2146071	OMIM:251270|ORPHA:2518	Microcephaly And Chorioretinopathy, Autosomal Recessive, 1|Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	no	no	no	no	NA
TUFM	HGNC:12420	MGI:1923686	OMIM:610678|ORPHA:254925	Combined Oxidative Phosphorylation Deficiency 4|Combined Oxidative Phosphorylation Defect Type 4	yes	no	yes	no	NA
TUFT1	HGNC:12422	MGI:109572	OMIM:620415	Woolly Hair-Skin Fragility Syndrome	yes	yes	yes	no	NA
TULP1	HGNC:12423	MGI:109571	OMIM:613843|OMIM:600132|ORPHA:791|ORPHA:65	Leber Congenital Amaurosis 15|Retinitis Pigmentosa 14|Retinitis Pigmentosa|Leber Congenital Amaurosis	no	no	no	no	NA
TULP2	HGNC:12424	MGI:1861600	-	-	yes	no	no	no	NA
TULP3	HGNC:12425	MGI:1329045	OMIM:619902	Hepatorenocardiac Degenerative Fibrosis	yes	yes	yes	no	NA
TULP4	HGNC:15530	MGI:1916092	-	-	yes	no	no	no	NA
TUSC1	HGNC:31010	MGI:2684283	-	-	yes	no	no	no	NA
TUSC2	HGNC:17034	MGI:1931086	-	-	no	no	no	no	NA
TUSC3	HGNC:30242	MGI:1933134	OMIM:611093|ORPHA:88616	Intellectual Developmental Disorder, Autosomal Recessive 7|Autosomal Recessive Non-Syndromic Intellectual Disability	yes	yes	yes	no	NA
TUT1	HGNC:26184	MGI:1917294	-	-	no	no	no	no	NA
TUT4	HGNC:28981	MGI:2445126	-	-	yes	no	no	no	NA
TUT7	HGNC:25817	MGI:2387179	-	-	no	no	no	no	NA
TVP23A	HGNC:20398	MGI:3665441	-	-	no	no	no	no	NA
TWF1	HGNC:9620	MGI:1100520	-	-	yes	no	no	no	NA
TWF2	HGNC:9621	MGI:1346078	-	-	yes	no	no	no	NA
TWIST1	HGNC:12428	MGI:98872	OMIM:123100|OMIM:180750|OMIM:101400|OMIM:617746|ORPHA:794|ORPHA:35099|ORPHA:35093	Craniosynostosis 1|Robinow-Sorauf Syndrome|Saethre-Chotzen Syndrome|Sweeney-Cox Syndrome|Non-Syndromic Bicoronal Craniosynostosis|Non-Syndromic Sagittal Craniosynostosis	yes	yes	yes	yes	44.785
TWIST2	HGNC:20670	MGI:104685	OMIM:200110|OMIM:209885|OMIM:227260|ORPHA:920|ORPHA:1231|ORPHA:1807	Ablepharon-Macrostomia Syndrome|Barber-Say Syndrome|Focal Facial Dermal Dysplasia 3, Setleis Type|Ablepharon Macrostomia Syndrome|Focal Facial Dermal Dysplasia Type Iii	yes	yes	yes	yes	33.17
TWNK	HGNC:1160	MGI:2137410	OMIM:271245|OMIM:616138|OMIM:609286|ORPHA:1186|ORPHA:254892|ORPHA:363534|ORPHA:70595|ORPHA:642976|ORPHA:642945	Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)|Perrault Syndrome 5|Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3|Infantile-Onset Spinocerebellar Ataxia|Autosomal Dominant Progressive External Ophthalmoplegia|Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form|Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome|Perrault Syndrome Type 2|Perrault Syndrome Type 1	no	no	no	no	NA
TWSG1	HGNC:12429	MGI:2137520	-	-	no	no	no	no	NA
TXK	HGNC:12434	MGI:102960	-	-	yes	no	no	no	NA
TXLNA	HGNC:30685	MGI:105968	-	-	yes	no	no	no	NA
TXLNB	HGNC:21617	MGI:2671945	-	-	no	no	no	no	NA
TXLNG	HGNC:18578	MGI:3590652	-	-	no	no	no	no	NA
TXN	HGNC:12435	MGI:98874	-	-	no	no	no	no	NA
TXN2	HGNC:17772	MGI:1929468	OMIM:616811|ORPHA:478029	Combined Oxidative Phosphorylation Deficiency 29|Combined Oxidative Phosphorylation Defect Type 29	no	no	no	no	NA
TXNDC11	HGNC:28030	MGI:1923620	-	-	yes	no	no	no	NA
TXNDC12	HGNC:24626	MGI:1913323	-	-	yes	no	no	no	NA
TXNDC15	HGNC:20652	MGI:1916922	OMIM:619879|ORPHA:564	Meckel Syndrome 14|Meckel Syndrome	no	no	no	no	NA
TXNDC16	HGNC:19965	MGI:1917811	-	-	no	no	no	no	NA
TXNDC17	HGNC:28218	MGI:1289248	-	-	no	no	no	no	NA
TXNDC2	HGNC:16470	MGI:2389312	-	-	no	no	no	no	NA
TXNDC5	HGNC:21073	MGI:2145316	-	-	yes	no	no	no	NA
TXNDC8	HGNC:31454	MGI:1914652	-	-	no	no	no	no	NA
TXNDC9	HGNC:24110	MGI:2138153	-	-	no	no	no	no	NA
TXNIP	HGNC:16952	MGI:1889549	-	-	yes	no	no	no	NA
TXNL1	HGNC:12436	MGI:1860078	-	-	yes	no	no	no	NA
TXNL4A	HGNC:30551	MGI:1351613	OMIM:608572|ORPHA:1200	Burn-Mckeown Syndrome	yes	yes	yes	no	NA
TXNL4B	HGNC:26041	MGI:2443724	-	-	no	no	no	no	NA
TXNRD1	HGNC:12437	MGI:1354175	-	-	no	no	no	no	NA
TXNRD2	HGNC:18155	MGI:1347023	OMIM:617825|ORPHA:154|ORPHA:361	Glucocorticoid Deficiency 5|Familial Isolated Dilated Cardiomyopathy|Familial Glucocorticoid Deficiency	no	no	no	no	NA
TXNRD3	HGNC:20667	MGI:2386711	-	-	no	no	no	no	NA
TYK2	HGNC:12440	MGI:1929470	OMIM:611521|ORPHA:331226|ORPHA:300865|ORPHA:98842	Immunodeficiency 35|Susceptibility To Infection Due To Tyk2 Deficiency|Primary Cutaneous Anaplastic Large Cell Lymphoma|Lymphomatoid Papulosis	yes	yes	yes	no	NA
TYMP	HGNC:3148	MGI:1920212	OMIM:603041|ORPHA:298	Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)|Mitochondrial Neurogastrointestinal Encephalomyopathy	no	no	no	no	NA
TYMS	HGNC:12441	MGI:98878	OMIM:620040|ORPHA:1775	Dyskeratosis Congenita, Digenic|Dyskeratosis Congenita	yes	no	yes	no	NA
TYR	HGNC:12442	MGI:98880	OMIM:203100|OMIM:606952|OMIM:601800|ORPHA:895|ORPHA:352734|ORPHA:352737|ORPHA:79434|ORPHA:79431	Albinism, Oculocutaneous, Type Ia|Albinism, Oculocutaneous, Type Ib|Skin/Hair/Eye Pigmentation, Variation In, 3|Waardenburg Syndrome Type 2|Minimal Pigment Oculocutaneous Albinism Type 1|Temperature-Sensitive Oculocutaneous Albinism Type 1|Oculocutaneous Albinism Type 1B|Oculocutaneous Albinism Type 1A	no	no	no	no	NA
TYRO3	HGNC:12446	MGI:104294	-	-	yes	no	no	no	NA
TYROBP	HGNC:12449	MGI:1277211	OMIM:221770|ORPHA:2770	Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1|Nasu-Hakola Disease	no	no	no	no	NA
TYRP1	HGNC:12450	MGI:98881	OMIM:203290|OMIM:612271|ORPHA:79433	Albinism, Oculocutaneous, Type Iii|Skin/Hair/Eye Pigmentation, Variation In, 11|Oculocutaneous Albinism Type 3	no	no	no	no	NA
TYSND1	HGNC:28531	MGI:1919017	-	-	no	no	no	no	NA
TYW3	HGNC:24757	MGI:2445040	-	-	no	no	no	no	NA
TYW5	HGNC:26754	MGI:1915986	-	-	no	no	no	no	NA
U2AF1	HGNC:12453	MGI:98884	-	-	yes	no	no	no	NA
U2AF1L4	HGNC:23020	MGI:2678374	-	-	no	no	no	no	NA
U2AF2	HGNC:23156	MGI:98886	OMIM:620535	Developmental Delay, Dysmorphic Facies, And Brain Anomalies	yes	yes	no	no	NA
U2SURP	HGNC:30855	MGI:1915208	-	-	yes	no	no	no	NA
UACA	HGNC:15947	MGI:1919815	-	-	no	no	no	no	NA
UAP1	HGNC:12457	MGI:1334459	-	-	yes	no	no	no	NA
UAP1L1	HGNC:28082	MGI:2443318	-	-	no	no	no	no	NA
UBA1	HGNC:12469	MGI:98890	OMIM:301830|OMIM:301054|ORPHA:1145|ORPHA:596753	Spinal Muscular Atrophy, X-Linked 2|Vexas Syndrome|Infantile-Onset X-Linked Spinal Muscular Atrophy	no	no	no	no	NA
UBA2	HGNC:30661	MGI:1858313	OMIM:619959|ORPHA:1114	Acces Syndrome|Aplasia Cutis Congenita	yes	yes	yes	no	NA
UBA3	HGNC:12470	MGI:1341217	-	-	no	no	no	no	NA
UBA5	HGNC:23230	MGI:1913913	OMIM:617133|OMIM:617132|ORPHA:442835	Spinocerebellar Ataxia, Autosomal Recessive 24|Developmental And Epileptic Encephalopathy 44|Non-Specific Early-Onset Epileptic Encephalopathy	no	no	no	no	NA
UBA52	HGNC:12458	MGI:98887	-	-	no	no	no	no	NA
UBA6	HGNC:25581	MGI:1913894	-	-	no	no	no	no	NA
UBA7	HGNC:12471	MGI:1349462	-	-	yes	no	no	no	NA
UBAC1	HGNC:30221	MGI:1920995	-	-	yes	no	no	no	NA
UBAC2	HGNC:20486	MGI:1916139	ORPHA:117	Behçet Disease	yes	yes	yes	yes	30.94
UBALD1	HGNC:29576	MGI:1916255	-	-	no	no	no	no	NA
UBALD2	HGNC:28438	MGI:1914635	-	-	no	no	no	no	NA
UBAP1	HGNC:12461	MGI:2149543	OMIM:618418|ORPHA:100993|ORPHA:631068	Spastic Paraplegia 80, Autosomal Dominant|Autosomal Dominant Spastic Paraplegia Type 12|Autosomal Dominant Spastic Paraplegia Type 80	yes	yes	yes	no	NA
UBAP1L	HGNC:40028	MGI:2685360	-	-	yes	no	no	no	NA
UBAP2	HGNC:14185	MGI:1916176	-	-	yes	no	no	no	NA
UBAP2L	HGNC:29877	MGI:1921633	OMIM:620494	Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	yes	yes	no	no	NA
UBASH3A	HGNC:12462	MGI:1926074	-	-	yes	no	no	no	NA
UBASH3B	HGNC:29884	MGI:1920078	-	-	no	no	no	no	NA
UBB	HGNC:12463	MGI:98888	ORPHA:155878|ORPHA:101023|ORPHA:99772|ORPHA:99771	Submucosal Cleft Palate|Cleft Hard Palate|Cleft Velum|Bifid Uvula	no	no	no	no	NA
UBC	HGNC:12468	MGI:98889	-	-	yes	no	no	no	NA
UBD	HGNC:18795	MGI:1344410	-	-	yes	no	no	no	NA
UBE2A	HGNC:12472	MGI:102959	OMIM:300860|ORPHA:163956	Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type|X-Linked Intellectual Disability, Nascimento Type	yes	yes	yes	yes	28.93
UBE2B	HGNC:12473	MGI:102944	-	-	yes	no	no	no	NA
UBE2C	HGNC:15937	MGI:1915862	-	-	yes	no	no	no	NA
UBE2D1	HGNC:12474	MGI:2384911	-	-	yes	no	no	no	NA
UBE2D2	HGNC:12475	MGI:1930715	-	-	no	no	no	no	NA
UBE2D3	HGNC:12476	MGI:1913355	-	-	yes	no	no	no	NA
UBE2E1	HGNC:12477	MGI:107411	-	-	yes	no	no	no	NA
UBE2E2	HGNC:12478	MGI:2384997	-	-	yes	no	no	no	NA
UBE2E3	HGNC:12479	MGI:107412	-	-	no	no	no	no	NA
UBE2F	HGNC:12480	MGI:1915171	-	-	yes	no	no	no	NA
UBE2G1	HGNC:12482	MGI:1914378	-	-	yes	no	no	no	NA
UBE2G2	HGNC:12483	MGI:1343188	-	-	no	no	no	no	NA
UBE2H	HGNC:12484	MGI:104632	-	-	yes	no	no	no	NA
UBE2I	HGNC:12485	MGI:107365	-	-	yes	no	no	no	NA
UBE2J1	HGNC:17598	MGI:1926245	-	-	yes	no	no	no	NA
UBE2J2	HGNC:19268	MGI:2153608	-	-	yes	no	no	no	NA
UBE2K	HGNC:4914	MGI:1858216	-	-	no	no	no	no	NA
UBE2L3	HGNC:12488	MGI:109240	ORPHA:536	Systemic Lupus Erythematosus	no	no	no	no	NA
UBE2L6	HGNC:12490	MGI:1914500	-	-	no	no	no	no	NA
UBE2M	HGNC:12491	MGI:108278	-	-	yes	no	no	no	NA
UBE2N	HGNC:12492	MGI:1934835	-	-	yes	no	no	no	NA
UBE2O	HGNC:29554	MGI:2444266	-	-	yes	no	no	no	NA
UBE2Q1	HGNC:15698	MGI:1917343	-	-	no	no	no	no	NA
UBE2Q2	HGNC:19248	MGI:2388672	-	-	no	no	no	no	NA
UBE2QL1	HGNC:37269	MGI:1924230	-	-	yes	no	no	no	NA
UBE2R2	HGNC:19907	MGI:1914865	-	-	no	no	no	no	NA
UBE2S	HGNC:17895	MGI:1925141	-	-	no	no	no	no	NA
UBE2T	HGNC:25009	MGI:1914446	OMIM:616435|ORPHA:84	Fanconi Anemia, Complementation Group T|Fanconi Anemia	no	no	no	no	NA
UBE2U	HGNC:28559	MGI:3588216	-	-	yes	no	no	no	NA
UBE2V1	HGNC:12494	MGI:1913839	-	-	no	no	no	no	NA
UBE2V2	HGNC:12495	MGI:1917870	-	-	no	no	no	no	NA
UBE2W	HGNC:25616	MGI:1914049	-	-	yes	no	no	no	NA
UBE2Z	HGNC:25847	MGI:1343160	-	-	yes	no	no	no	NA
UBE3A	HGNC:12496	MGI:105098	OMIM:105830|ORPHA:238446|ORPHA:411511|ORPHA:411515|ORPHA:98795|ORPHA:98794	Angelman Syndrome|15Q11Q13 Microduplication Syndrome|Angelman Syndrome Due To A Point Mutation|Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13|Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15|Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	yes	yes	yes	yes	58.665
UBE3B	HGNC:13478	MGI:1891295	OMIM:244450|ORPHA:2707	Kaufman Oculocerebrofacial Syndrome|Oculocerebrofacial Syndrome, Kaufman Type	yes	yes	yes	yes	47.94
UBE3C	HGNC:16803	MGI:2140998	OMIM:620270	Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	yes	yes	yes	yes	36.315
UBE3D	HGNC:21381	MGI:1917598	-	-	no	no	no	no	NA
UBE4A	HGNC:12499	MGI:2154580	OMIM:619639|ORPHA:88616	Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay|Autosomal Recessive Non-Syndromic Intellectual Disability	yes	yes	yes	no	NA
UBE4B	HGNC:12500	MGI:1927086	ORPHA:1606	1P36 Deletion Syndrome	no	no	no	no	NA
UBFD1	HGNC:30565	MGI:107301	-	-	no	no	no	no	NA
UBIAD1	HGNC:30791	MGI:1918957	OMIM:121800|ORPHA:98967	Schnyder Corneal Dystrophy	yes	yes	yes	no	NA
UBL3	HGNC:12504	MGI:1344373	-	-	no	no	no	no	NA
UBL4A	HGNC:12505	MGI:95049	-	-	no	no	no	no	NA
UBL4B	HGNC:32309	MGI:1914841	-	-	yes	no	no	no	NA
UBL5	HGNC:13736	MGI:1913427	-	-	no	no	no	no	NA
UBL7	HGNC:28221	MGI:1916709	-	-	yes	no	no	no	NA
UBLCP1	HGNC:28110	MGI:1933105	-	-	yes	no	no	no	NA
UBN1	HGNC:12506	MGI:1891307	-	-	yes	no	no	no	NA
UBN2	HGNC:21931	MGI:2444236	-	-	yes	no	no	no	NA
UBOX5	HGNC:17777	MGI:2154658	-	-	yes	no	no	no	NA
UBP1	HGNC:12507	MGI:104889	-	-	yes	no	no	no	NA
UBQLN1	HGNC:12508	MGI:1860276	-	-	no	no	no	no	NA
UBQLN2	HGNC:12509	MGI:1860283	OMIM:300857|ORPHA:803	Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia|Amyotrophic Lateral Sclerosis	no	no	no	no	NA
UBQLN3	HGNC:12510	MGI:3045291	-	-	no	no	no	no	NA
UBQLN4	HGNC:1237	MGI:2150152	-	-	yes	no	no	no	NA
UBQLNL	HGNC:28294	MGI:2685336	-	-	no	no	no	no	NA
UBR1	HGNC:16808	MGI:1277977	OMIM:243800|ORPHA:2315	Johanson-Blizzard Syndrome	no	no	no	no	NA
UBR2	HGNC:21289	MGI:1861099	-	-	yes	no	no	no	NA
UBR3	HGNC:30467	MGI:1861100	-	-	no	no	no	no	NA
UBR4	HGNC:30313	MGI:1916366	-	-	yes	no	no	no	NA
UBR5	HGNC:16806	MGI:1918040	-	-	no	no	no	no	NA
UBR7	HGNC:20344	MGI:1913872	OMIM:619189|ORPHA:528084	Li-Campeau Syndrome|Non-Specific Syndromic Intellectual Disability	yes	yes	yes	yes	32.97
UBTD1	HGNC:25683	MGI:2385092	-	-	yes	no	no	no	NA
UBTD2	HGNC:24463	MGI:2444752	-	-	no	no	no	no	NA
UBTF	HGNC:12511	MGI:98512	OMIM:617672|ORPHA:500180	Neurodegeneration, Childhood-Onset, With Brain Atrophy|Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	yes	yes	yes	no	NA
UBTFL1	HGNC:14533	MGI:3588290	-	-	no	no	no	no	NA
UBXN1	HGNC:18402	MGI:1289301	-	-	yes	no	no	no	NA
UBXN10	HGNC:26354	MGI:2443123	-	-	yes	no	no	no	NA
UBXN11	HGNC:30600	MGI:1914836	-	-	no	no	no	no	NA
UBXN2A	HGNC:27265	MGI:2442310	-	-	yes	no	no	no	NA
UBXN2B	HGNC:27035	MGI:1915303	-	-	yes	no	no	no	NA
UBXN4	HGNC:14860	MGI:1915062	-	-	no	no	no	no	NA
UBXN6	HGNC:14928	MGI:1913780	-	-	yes	no	no	no	NA
UBXN7	HGNC:29119	MGI:2146388	-	-	yes	no	no	no	NA
UBXN8	HGNC:30307	MGI:1337129	-	-	no	no	no	no	NA
UCHL1	HGNC:12513	MGI:103149	OMIM:620221|OMIM:615491|OMIM:613643|ORPHA:2828|ORPHA:352654	Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia|Spastic Paraplegia 79B, Autosomal Recessive|Parkinson Disease 5, Autosomal Dominant, Susceptibility To|Young-Onset Parkinson Disease|Early-Onset Progressive Neurodegeneration-Blindness-Ataxia-Spasticity Syndrome	yes	yes	yes	yes	37.96
UCHL5	HGNC:19678	MGI:1914848	-	-	yes	no	no	no	NA
UCK1	HGNC:14859	MGI:98904	-	-	yes	no	no	no	NA
UCK2	HGNC:12562	MGI:1931744	-	-	yes	no	no	no	NA
UCKL1	HGNC:15938	MGI:1915806	-	-	yes	no	no	no	NA
UCMA	HGNC:25205	MGI:1915777	-	-	no	no	no	no	NA
UCN	HGNC:12516	MGI:1276123	-	-	no	no	no	no	NA
UCN2	HGNC:18414	MGI:2176375	-	-	no	no	no	no	NA
UCN3	HGNC:17781	MGI:1932970	-	-	yes	no	no	no	NA
UCP1	HGNC:12517	MGI:98894	-	-	yes	no	no	no	NA
UCP2	HGNC:12518	MGI:109354	OMIM:607447|ORPHA:276556	Body Mass Index Quantitative Trait Locus 4|Hyperinsulinism Due To Ucp2 Deficiency	no	no	no	no	NA
UCP3	HGNC:12519	MGI:1099787	OMIM:601665	Obesity	no	no	no	no	NA
UEVLD	HGNC:30866	MGI:1860490	-	-	yes	no	no	no	NA
UFC1	HGNC:26941	MGI:1913405	OMIM:618076	Neurodevelopmental Disorder With Spasticity And Poor Growth	yes	yes	yes	no	NA
UFD1	HGNC:12520	MGI:109353	ORPHA:567	22Q11.2 Deletion Syndrome	no	no	no	no	NA
UFL1	HGNC:23039	MGI:1914740	-	-	yes	no	no	no	NA
UFM1	HGNC:20597	MGI:1915140	OMIM:617899|ORPHA:139441	Leukodystrophy, Hypomyelinating, 14|Hypomyelination With Atrophy Of Basal Ganglia And Cerebellum	yes	yes	yes	no	NA
UFSP1	HGNC:33821	MGI:1917490	-	-	no	no	no	no	NA
UFSP2	HGNC:25640	MGI:1913679	OMIM:142669|OMIM:620028|OMIM:617974|ORPHA:2114|ORPHA:88616	Beukes Hip Dysplasia|Developmental And Epileptic Encephalopathy 106|Spondyloepimetaphyseal Dysplasia, Di Rocco Type|Hip Dysplasia, Beukes Type|Autosomal Recessive Non-Syndromic Intellectual Disability	yes	yes	yes	yes	40.495
UGCG	HGNC:12524	MGI:1332243	-	-	yes	no	no	no	NA
UGDH	HGNC:12525	MGI:1306785	OMIM:618792	Developmental And Epileptic Encephalopathy 84	no	no	no	no	NA
UGGT1	HGNC:15663	MGI:2443162	-	-	yes	no	no	no	NA
UGGT2	HGNC:15664	MGI:1913685	-	-	yes	no	no	no	NA
UGP2	HGNC:12527	MGI:2183447	OMIM:618744	Developmental And Epileptic Encephalopathy 83	yes	yes	yes	no	NA
UGT1A1	HGNC:12530	MGI:98898	-	-	no	no	no	no	NA
UGT2A1	HGNC:12542	MGI:2149905	-	-	yes	no	no	no	NA
UGT2A2	HGNC:28183	MGI:3576095	-	-	no	no	no	no	NA
UGT2A3	HGNC:28528	MGI:1919344	-	-	no	no	no	no	NA
UGT8	HGNC:12555	MGI:109522	-	-	no	no	no	no	NA
UHMK1	HGNC:19683	MGI:1341908	-	-	no	no	no	no	NA
UHRF1	HGNC:12556	MGI:1338889	-	-	yes	no	no	no	NA
UHRF2	HGNC:12557	MGI:1923718	-	-	yes	no	no	no	NA
UIMC1	HGNC:30298	MGI:103185	-	-	no	no	no	no	NA
ULBP1	HGNC:14893	MGI:1925027	-	-	no	no	no	no	NA
ULK1	HGNC:12558	MGI:1270126	-	-	no	no	no	no	NA
ULK2	HGNC:13480	MGI:1352758	-	-	no	no	no	no	NA
ULK3	HGNC:19703	MGI:1918992	-	-	yes	no	no	no	NA
ULK4	HGNC:15784	MGI:1921622	-	-	no	no	no	no	NA
UMAD1	HGNC:48955	MGI:3840148	-	-	no	no	no	no	NA
UMOD	HGNC:12559	MGI:102674	OMIM:162000|ORPHA:88950	Tubulointerstitial Kidney Disease, Autosomal Dominant, 1|Umod-Related Autosomal Dominant Tubulointerstitial Kidney Disease	yes	yes	yes	yes	40.005
UMODL1	HGNC:12560	MGI:1929785	-	-	yes	no	no	no	NA
UMPS	HGNC:12563	MGI:1298388	OMIM:258900|ORPHA:30	Orotic Aciduria|Hereditary Orotic Aciduria	no	no	no	no	NA
UNC119	HGNC:12565	MGI:1328357	OMIM:615518|OMIM:620342|ORPHA:1872|ORPHA:228000	Immunodeficiency 13|Cone-Rod Dystrophy 24|Cone Rod Dystrophy|Idiopathic Cd4 Lymphocytopenia	yes	yes	yes	no	NA
UNC119B	HGNC:16488	MGI:2147162	-	-	yes	no	no	no	NA
UNC13A	HGNC:23150	MGI:3051532	ORPHA:803	Amyotrophic Lateral Sclerosis	no	no	no	no	NA
UNC13B	HGNC:12566	MGI:1342278	-	-	yes	no	no	no	NA
UNC13C	HGNC:23149	MGI:2149021	-	-	yes	no	no	no	NA
UNC13D	HGNC:23147	MGI:1917700	OMIM:608898|ORPHA:540	Hemophagocytic Lymphohistiocytosis, Familial, 3|Familial Hemophagocytic Lymphohistiocytosis	no	no	no	no	NA
UNC45A	HGNC:30594	MGI:2142246	OMIM:619377	Osteootohepatoenteric Syndrome	yes	yes	yes	no	NA
UNC45B	HGNC:14304	MGI:2443377	OMIM:616279|OMIM:619178|ORPHA:441447|ORPHA:98991	Cataract 43|Myofibrillar Myopathy 11|Early-Onset Posterior Subcapsular Cataract|Early-Onset Nuclear Cataract	yes	yes	yes	no	NA
UNC50	HGNC:16046	MGI:1914637	-	-	no	no	no	no	NA
UNC5A	HGNC:12567	MGI:894682	-	-	no	no	no	no	NA
UNC5B	HGNC:12568	MGI:894703	-	-	no	no	no	no	NA
UNC5C	HGNC:12569	MGI:1095412	-	-	yes	no	no	no	NA
UNC5CL	HGNC:21203	MGI:1923839	-	-	yes	no	no	no	NA
UNC5D	HGNC:18634	MGI:2389364	-	-	no	no	no	no	NA
UNC79	HGNC:19966	MGI:2684729	-	-	no	no	no	no	NA
UNC80	HGNC:26582	MGI:2652882	OMIM:616801|ORPHA:371364	Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2|Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	yes	yes	yes	no	NA
UNC93B1	HGNC:13481	MGI:1859307	OMIM:610551|ORPHA:1930	Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1|Herpes Simplex Virus Encephalitis	no	no	no	no	NA
UNCX	HGNC:33194	MGI:108013	-	-	no	no	no	no	NA
UNG	HGNC:12572	MGI:109352	OMIM:608106|ORPHA:101092	Immunodeficiency With Hyper-Igm, Type 5|Hyper-Igm Syndrome Type 5	no	no	no	no	NA
UNK	HGNC:29369	MGI:2442456	-	-	yes	no	no	no	NA
UNKL	HGNC:14184	MGI:1921404	-	-	yes	no	no	no	NA
UPB1	HGNC:16297	MGI:2143535	OMIM:613161|ORPHA:65287	Beta-Ureidopropionase Deficiency	yes	yes	yes	no	NA
UPF1	HGNC:9962	MGI:107995	-	-	no	no	no	no	NA
UPF2	HGNC:17854	MGI:2449307	-	-	no	no	no	no	NA
UPF3A	HGNC:20332	MGI:1914281	-	-	yes	no	no	no	NA
UPF3B	HGNC:20439	MGI:1915384	OMIM:300676|ORPHA:776|ORPHA:323|ORPHA:777	Intellectual Developmental Disorder, X-Linked, Syndromic 14|Lujan-Fryns Syndrome|Non Rare In Europe: Fg Syndrome Phenotypic Spectrum|X-Linked Non-Syndromic Intellectual Disability	yes	yes	yes	yes	40.88
UPK1A	HGNC:12577	MGI:98911	-	-	no	no	no	no	NA
UPK1B	HGNC:12578	MGI:98912	-	-	yes	no	no	no	NA
UPK2	HGNC:12579	MGI:98913	-	-	no	no	no	no	NA
UPK3A	HGNC:12580	MGI:98914	ORPHA:93100	Renal Agenesis, Unilateral	no	no	no	no	NA
UPK3B	HGNC:21444	MGI:2140882	-	-	no	no	no	no	NA
UPK3BL1	HGNC:37278	MGI:1916915	-	-	no	no	no	no	NA
UPP1	HGNC:12576	MGI:1097668	-	-	no	no	no	no	NA
UPP2	HGNC:23061	MGI:1923904	-	-	no	no	no	no	NA
UPRT	HGNC:28334	MGI:2685620	-	-	no	no	no	no	NA
UQCC1	HGNC:15891	MGI:1929472	-	-	no	no	no	no	NA
UQCC2	HGNC:21237	MGI:1914517	OMIM:615824|ORPHA:1460	Mitochondrial Complex Iii Deficiency, Nuclear Type 7|Isolated Complex Iii Deficiency	no	no	no	no	NA
UQCC3	HGNC:34399	MGI:2147553	OMIM:616111|ORPHA:1460	Mitochondrial Complex Iii Deficiency, Nuclear Type 9|Isolated Complex Iii Deficiency	yes	yes	yes	yes	21.57
UQCC4	HGNC:27558	MGI:2670966	-	-	no	no	no	no	NA
UQCC5	HGNC:37257	MGI:1913737	-	-	no	no	no	no	NA
UQCC6	HGNC:34450	MGI:3698433	-	-	no	no	no	no	NA
UQCR10	HGNC:30863	MGI:1913402	-	-	yes	no	no	no	NA
UQCR11	HGNC:30862	MGI:1913844	-	-	no	no	no	no	NA
UQCRB	HGNC:12582	MGI:1914780	OMIM:615158|ORPHA:1460	Mitochondrial Complex Iii Deficiency, Nuclear Type 3|Isolated Complex Iii Deficiency	yes	yes	yes	no	NA
UQCRC1	HGNC:12585	MGI:107876	OMIM:619279	Parkinsonism With Polyneuropathy	yes	yes	yes	yes	36.17
UQCRC2	HGNC:12586	MGI:1914253	OMIM:615160|ORPHA:1460	Mitochondrial Complex Iii Deficiency, Nuclear Type 5|Isolated Complex Iii Deficiency	no	no	no	no	NA
UQCRFS1	HGNC:12587	MGI:1913944	OMIM:618775|ORPHA:1460	Mitochondrial Complex Iii Deficiency, Nuclear Type 10|Isolated Complex Iii Deficiency	no	no	no	no	NA
UQCRQ	HGNC:29594	MGI:107807	OMIM:615159|ORPHA:1460	Mitochondrial Complex Iii Deficiency, Nuclear Type 4|Isolated Complex Iii Deficiency	yes	yes	yes	no	NA
URAD	HGNC:17785	MGI:3647519	-	-	no	no	no	no	NA
URB1	HGNC:17344	MGI:2146468	-	-	yes	no	no	no	NA
URB2	HGNC:28967	MGI:2681124	-	-	no	no	no	no	NA
URGCP	HGNC:30890	MGI:1919296	-	-	no	no	no	no	NA
URI1	HGNC:13236	MGI:1342294	-	-	yes	no	no	no	NA
URM1	HGNC:28378	MGI:1915455	-	-	yes	no	no	no	NA
UROC1	HGNC:26444	MGI:2385332	OMIM:276880|ORPHA:210128	Urocanase Deficiency|Urocanic Aciduria	yes	yes	yes	no	NA
UROD	HGNC:12591	MGI:98916	OMIM:176100|ORPHA:443062|ORPHA:95159	Porphyria Cutanea Tarda|Familial Porphyria Cutanea Tarda|Hepatoerythropoietic Porphyria	no	no	no	no	NA
UROS	HGNC:12592	MGI:98917	OMIM:263700|ORPHA:79277	Porphyria, Congenital Erythropoietic|Congenital Erythropoietic Porphyria	yes	yes	yes	yes	29.93
USB1	HGNC:25792	MGI:2142454	OMIM:604173|ORPHA:1775|ORPHA:221046	Poikiloderma With Neutropenia|Dyskeratosis Congenita	yes	yes	yes	yes	37.24
USE1	HGNC:30882	MGI:1914273	-	-	no	no	no	no	NA
USF1	HGNC:12593	MGI:99542	OMIM:602491	Hyperlipidemia, Familial Combined, 1	yes	no	no	no	NA
USF2	HGNC:12594	MGI:99961	-	-	no	no	no	no	NA
USF3	HGNC:30494	MGI:2685454	ORPHA:201	Cowden Syndrome	yes	yes	yes	no	NA
USH1C	HGNC:12597	MGI:1919338	OMIM:602092|OMIM:276904|ORPHA:231169|ORPHA:90636	Deafness, Autosomal Recessive 18A|Usher Syndrome, Type Ic|Usher Syndrome Type 1|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	yes	yes	yes	yes	27.855
USH1G	HGNC:16356	MGI:2450757	OMIM:606943|ORPHA:231169	Usher Syndrome, Type Ig|Usher Syndrome Type 1	no	no	no	no	NA
USH2A	HGNC:12601	MGI:1341292	OMIM:613809|OMIM:276901|ORPHA:791|ORPHA:231178	Retinitis Pigmentosa 39|Usher Syndrome, Type Iia|Retinitis Pigmentosa|Usher Syndrome Type 2	no	no	no	no	NA
USHBP1	HGNC:24058	MGI:1922920	-	-	yes	no	no	no	NA
USO1	HGNC:30904	MGI:1929095	-	-	yes	no	no	no	NA
USP1	HGNC:12607	MGI:2385198	-	-	yes	no	no	no	NA
USP10	HGNC:12608	MGI:894652	-	-	yes	no	no	no	NA
USP11	HGNC:12609	MGI:2384312	-	-	yes	no	no	no	NA
USP12	HGNC:20485	MGI:1270128	-	-	yes	no	no	no	NA
USP13	HGNC:12611	MGI:1919857	-	-	yes	no	no	no	NA
USP14	HGNC:12612	MGI:1928898	-	-	yes	no	no	no	NA
USP15	HGNC:12613	MGI:101857	-	-	yes	no	no	no	NA
USP16	HGNC:12614	MGI:1921362	-	-	yes	no	no	no	NA
USP18	HGNC:12616	MGI:1344364	OMIM:617397|ORPHA:481665	Pseudo-Torch Syndrome 2|Usp18 Deficiency	no	no	no	no	NA
USP19	HGNC:12617	MGI:1918722	-	-	yes	no	no	no	NA
USP2	HGNC:12618	MGI:1858178	-	-	yes	no	no	no	NA
USP20	HGNC:12619	MGI:1921520	-	-	yes	no	no	no	NA
USP21	HGNC:12620	MGI:1353665	-	-	yes	no	no	no	NA
USP22	HGNC:12621	MGI:2144157	-	-	yes	no	no	no	NA
USP24	HGNC:12623	MGI:1919936	-	-	yes	no	no	no	NA
USP25	HGNC:12624	MGI:1353655	-	-	yes	no	no	no	NA
USP26	HGNC:13485	MGI:1933247	OMIM:301101	Spermatogenic Failure, X-Linked, 6	yes	yes	yes	no	NA
USP27X	HGNC:13486	MGI:1859645	OMIM:300984|ORPHA:777	Intellectual Developmental Disorder, X-Linked 105|X-Linked Non-Syndromic Intellectual Disability	no	no	no	no	NA
USP28	HGNC:12625	MGI:2442293	-	-	no	no	no	no	NA
USP29	HGNC:18563	MGI:1888998	-	-	yes	no	no	no	NA
USP3	HGNC:12626	MGI:2152450	-	-	yes	no	no	no	NA
USP30	HGNC:20065	MGI:2140991	-	-	yes	no	no	no	NA
USP31	HGNC:20060	MGI:1923429	-	-	yes	no	no	no	NA
USP33	HGNC:20059	MGI:2159711	-	-	yes	no	no	no	NA
USP34	HGNC:20066	MGI:109473	-	-	no	no	no	no	NA
USP35	HGNC:20061	MGI:2685339	-	-	yes	no	no	no	NA
USP36	HGNC:20062	MGI:1919594	-	-	yes	no	no	no	NA
USP37	HGNC:20063	MGI:2442483	-	-	yes	no	no	no	NA
USP38	HGNC:20067	MGI:1922091	-	-	yes	no	no	no	NA
USP39	HGNC:20071	MGI:107622	-	-	yes	no	no	no	NA
USP4	HGNC:12627	MGI:98905	-	-	yes	no	no	no	NA
USP40	HGNC:20069	MGI:2443184	-	-	yes	no	no	no	NA
USP42	HGNC:20068	MGI:1924050	-	-	yes	no	no	no	NA
USP43	HGNC:20072	MGI:2444541	-	-	yes	no	no	no	NA
USP44	HGNC:20064	MGI:3045318	-	-	yes	no	no	no	NA
USP45	HGNC:20080	MGI:101850	OMIM:618513|ORPHA:65	Leber Congenital Amaurosis 19|Leber Congenital Amaurosis	yes	yes	yes	no	NA
USP46	HGNC:20075	MGI:1916977	-	-	yes	no	no	no	NA
USP47	HGNC:20076	MGI:1922246	-	-	yes	no	no	no	NA
USP48	HGNC:18533	MGI:2158502	OMIM:620227|ORPHA:90635|ORPHA:96253	Deafness, Autosomal Dominant 85|Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna|Cushing Disease	no	no	no	no	NA
USP49	HGNC:20078	MGI:2685391	-	-	no	no	no	no	NA
USP5	HGNC:12628	MGI:1347343	-	-	yes	no	no	no	NA
USP50	HGNC:20079	MGI:1922333	-	-	yes	no	no	no	NA
USP51	HGNC:23086	MGI:3588217	-	-	yes	no	no	no	NA
USP53	HGNC:29255	MGI:2139607	OMIM:619658	Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	yes	yes	yes	yes	37.105
USP54	HGNC:23513	MGI:1926037	-	-	yes	no	no	no	NA
USP6NL	HGNC:16858	MGI:2138893	-	-	yes	no	no	no	NA
USP7	HGNC:12630	MGI:2182061	OMIM:616863|ORPHA:500055|ORPHA:643538	Hao-Fountain Syndrome|Hao-Fountain Syndrome Due To 16P13.2 Microdeletion|Hao-Fountain Syndrome Due To Usp7 Mutation	no	no	no	no	NA
USP8	HGNC:12631	MGI:1934029	OMIM:219090|ORPHA:401795|ORPHA:96253	Pituitary Adenoma 4, Acth-Secreting|Autosomal Recessive Spastic Paraplegia Type 59|Cushing Disease	no	no	no	no	NA
USP9X	HGNC:12632	MGI:894681	OMIM:300919|OMIM:300968|ORPHA:777|ORPHA:480880	Intellectual Developmental Disorder, X-Linked 99|Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted|X-Linked Non-Syndromic Intellectual Disability|X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	no	no	no	no	NA
USP9Y	HGNC:12633	MGI:1313274	OMIM:415000|ORPHA:1646	Spermatogenic Failure, Y-Linked, 2|Partial Chromosome Y Deletion	no	no	no	no	NA
USPL1	HGNC:20294	MGI:2442342	-	-	no	no	no	no	NA
UST	HGNC:17223	MGI:2442406	-	-	yes	no	no	no	NA
UTF1	HGNC:12634	MGI:1276125	-	-	no	no	no	no	NA
UTP11	HGNC:24329	MGI:1914455	-	-	no	no	no	no	NA
UTP15	HGNC:25758	MGI:2145443	-	-	no	no	no	no	NA
UTP18	HGNC:24274	MGI:1923402	-	-	no	no	no	no	NA
UTP20	HGNC:17897	MGI:1917933	-	-	yes	no	no	no	NA
UTP23	HGNC:28224	MGI:1925831	-	-	no	no	no	no	NA
UTP25	HGNC:28440	MGI:2138080	-	-	no	no	no	no	NA
UTP3	HGNC:24477	MGI:1919230	-	-	no	no	no	no	NA
UTP4	HGNC:1983	MGI:1096573	ORPHA:168583	Hereditary North American Indian Childhood Cirrhosis	yes	yes	no	no	NA
UTP6	HGNC:18279	MGI:2445193	-	-	yes	no	no	no	NA
UTRN	HGNC:12635	MGI:104631	-	-	no	no	no	no	NA
UTS2	HGNC:12636	MGI:1346329	-	-	yes	no	no	no	NA
UTS2B	HGNC:30894	MGI:2677064	-	-	yes	no	no	no	NA
UTS2R	HGNC:4468	MGI:2183450	-	-	no	no	no	no	NA
UTY	HGNC:12638	MGI:894810	-	-	no	no	no	no	NA
UVRAG	HGNC:12640	MGI:1925860	-	-	no	no	no	no	NA
UVSSA	HGNC:29304	MGI:1918351	OMIM:614640|ORPHA:178338	Uv-Sensitive Syndrome 3|Uv-Sensitive Syndrome	no	no	no	no	NA
UXS1	HGNC:17729	MGI:1915133	-	-	no	no	no	no	NA
UXT	HGNC:12641	MGI:1277988	-	-	no	no	no	no	NA
VAC14	HGNC:25507	MGI:2157980	OMIM:617054|ORPHA:3472|ORPHA:497906	Striatonigral Degeneration, Childhood-Onset|Yunis-Varon Syndrome|Childhood-Onset Basal Ganglia Degeneration Syndrome	no	no	no	no	NA
VAMP1	HGNC:12642	MGI:1313276	OMIM:618323|OMIM:108600|ORPHA:251282|ORPHA:98914	Myasthenic Syndrome, Congenital, 25, Presynaptic|Spastic Ataxia 1, Autosomal Dominant|Autosomal Dominant Spastic Ataxia Type 1|Presynaptic Congenital Myasthenic Syndromes	no	no	no	no	NA
VAMP2	HGNC:12643	MGI:1313277	OMIM:618760	Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	no	no	no	no	NA
VAMP3	HGNC:12644	MGI:1321389	-	-	yes	no	no	no	NA
VAMP4	HGNC:12645	MGI:1858730	-	-	yes	no	no	no	NA
VAMP5	HGNC:12646	MGI:1858622	-	-	no	no	no	no	NA
VAMP8	HGNC:12647	MGI:1336882	-	-	yes	no	no	no	NA
VANGL1	HGNC:15512	MGI:2159344	OMIM:600145|OMIM:182940|ORPHA:3027	Sacral Defect With Anterior Meningocele|Neural Tube Defects, Susceptibility To|Caudal Regression Syndrome	yes	yes	yes	no	NA
VANGL2	HGNC:15511	MGI:2135272	OMIM:182940|ORPHA:563612|ORPHA:563609	Neural Tube Defects, Susceptibility To|Isolated Exencephaly|Isolated Anencephaly	yes	yes	yes	yes	48.63
VAPA	HGNC:12648	MGI:1353561	-	-	no	no	no	no	NA
VAPB	HGNC:12649	MGI:1928744	OMIM:608627|OMIM:182980|ORPHA:803|ORPHA:209335	Amyotrophic Lateral Sclerosis 8|Spinal Muscular Atrophy, Late-Onset, Finkel Type|Amyotrophic Lateral Sclerosis|Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	yes	yes	yes	yes	35.35
VARS1	HGNC:12651	MGI:90675	OMIM:617802|ORPHA:420728	Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy|Combined Oxidative Phosphorylation Defect Type 20	no	no	no	no	NA
VARS2	HGNC:21642	MGI:1916165	OMIM:615917	Combined Oxidative Phosphorylation Deficiency 20	yes	yes	yes	yes	21.06
VASH1	HGNC:19964	MGI:2442543	-	-	no	no	no	no	NA
VASH2	HGNC:25723	MGI:2444826	-	-	no	no	no	no	NA
VASN	HGNC:18517	MGI:2177651	-	-	no	no	no	no	NA
VASP	HGNC:12652	MGI:109268	-	-	no	no	no	no	NA
VAT1	HGNC:16919	MGI:1349450	-	-	no	no	no	no	NA
VAT1L	HGNC:29315	MGI:2142534	-	-	yes	no	no	no	NA
VAV1	HGNC:12657	MGI:98923	-	-	no	no	no	no	NA
VAV2	HGNC:12658	MGI:102718	-	-	yes	no	no	no	NA
VAV3	HGNC:12659	MGI:1888518	-	-	no	no	no	no	NA
VAX1	HGNC:12660	MGI:1277163	OMIM:614402	Microphthalmia, Syndromic 11	yes	yes	yes	no	NA
VAX2	HGNC:12661	MGI:1346018	-	-	no	no	no	no	NA
VBP1	HGNC:12662	MGI:1333804	-	-	no	no	no	no	NA
VCAM1	HGNC:12663	MGI:98926	-	-	no	no	no	no	NA
VCAN	HGNC:2464	MGI:102889	OMIM:143200|ORPHA:898	Wagner Vitreoretinopathy|Wagner Disease	yes	yes	yes	yes	30.605
VCF1	HGNC:25918	MGI:106351	-	-	yes	no	no	no	NA
VCL	HGNC:12665	MGI:98927	OMIM:611407|OMIM:613255|ORPHA:154|ORPHA:155	Cardiomyopathy, Dilated, 1W|Cardiomyopathy, Familial Hypertrophic, 15|Familial Isolated Dilated Cardiomyopathy|Non Rare In Europe: Familial Isolated Hypertrophic Cardiomyopathy	no	no	no	no	NA
VCP	HGNC:12666	MGI:99919	OMIM:616687|OMIM:613954|OMIM:167320|ORPHA:803|ORPHA:275872|ORPHA:275864|ORPHA:329475|ORPHA:329478|ORPHA:435387|ORPHA:52430|ORPHA:100070	Charcot-Marie-Tooth Disease, Axonal, Type 2Y|Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6|Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1|Amyotrophic Lateral Sclerosis|Frontotemporal Dementia With Motor Neuron Disease|Behavioral Variant Of Frontotemporal Dementia|Spastic Paraplegia-Paget Disease Of Bone Syndrome|Adult-Onset Distal Myopathy Due To Vcp Mutation|Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y|Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia|Progressive Non-Fluent Aphasia	no	no	no	no	NA
VCPIP1	HGNC:30897	MGI:1917925	-	-	no	no	no	no	NA
VCPKMT	HGNC:20352	MGI:2684917	-	-	yes	no	no	no	NA
VDAC1	HGNC:12669	MGI:106919	-	-	yes	no	no	no	NA
VDAC2	HGNC:12672	MGI:106915	-	-	no	no	no	no	NA
VDAC3	HGNC:12674	MGI:106922	-	-	yes	no	no	no	NA
VDR	HGNC:12679	MGI:103076	OMIM:277440|ORPHA:93160	Vitamin D-Dependent Rickets, Type 2A|Hypocalcemic Vitamin D-Resistant Rickets	no	no	no	no	NA
VEGFA	HGNC:12680	MGI:103178	OMIM:603933	Microvascular Complications Of Diabetes, Susceptibility To, 1	no	no	no	no	NA
VEGFB	HGNC:12681	MGI:106199	-	-	yes	no	no	no	NA
VEGFC	HGNC:12682	MGI:109124	OMIM:615907|ORPHA:569821	Lymphatic Malformation 4|Congenital Primary Lymphedema Of Gordon	no	no	no	no	NA
VEGFD	HGNC:3708	MGI:108037	-	-	yes	no	no	no	NA
VEPH1	HGNC:25735	MGI:1920039	-	-	no	no	no	no	NA
VEZF1	HGNC:12949	MGI:1313291	OMIM:620247|ORPHA:154	Cardiomyopathy, Dilated, 1Oo|Familial Isolated Dilated Cardiomyopathy	no	no	no	no	NA
VEZT	HGNC:18258	MGI:2143698	-	-	yes	no	no	no	NA
VGF	HGNC:12684	MGI:1343180	-	-	yes	no	no	no	NA
VGLL1	HGNC:20985	MGI:2655768	-	-	no	no	no	no	NA
VGLL2	HGNC:20232	MGI:2447460	-	-	no	no	no	no	NA
VGLL3	HGNC:24327	MGI:1920819	-	-	yes	no	no	no	NA
VGLL4	HGNC:28966	MGI:2652840	-	-	yes	no	no	no	NA
VHL	HGNC:12687	MGI:103223	OMIM:144700|OMIM:263400|OMIM:171300|OMIM:193300|ORPHA:892|ORPHA:276621|ORPHA:238557|ORPHA:29072	Renal Cell Carcinoma, Nonpapillary|Erythrocytosis, Familial, 2|Pheochromocytoma|Von Hippel-Lindau Syndrome|Von Hippel-Lindau Disease|Sporadic Pheochromocytoma/Secreting Paraganglioma|Chuvash Erythrocytosis|Hereditary Pheochromocytoma-Paraganglioma	no	no	no	no	NA
VIL1	HGNC:12690	MGI:98930	-	-	yes	no	no	no	NA
VILL	HGNC:30906	MGI:1201781	-	-	no	no	no	no	NA
VIM	HGNC:12692	MGI:98932	OMIM:116300|ORPHA:98984	Cataract 30, Multiple Types|Pulverulent Cataract	yes	yes	yes	no	NA
VIP	HGNC:12693	MGI:98933	-	-	no	no	no	no	NA
VIPAS39	HGNC:20347	MGI:2144805	OMIM:613404|ORPHA:2697	Arthrogryposis, Renal Dysfunction, And Cholestasis 2|Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome	no	no	no	no	NA
VIPR1	HGNC:12694	MGI:109272	-	-	no	no	no	no	NA
VIPR2	HGNC:12695	MGI:107166	-	-	no	no	no	no	NA
VIRMA	HGNC:24500	MGI:1913435	-	-	yes	no	no	no	NA
VIT	HGNC:12697	MGI:1921449	-	-	no	no	no	no	NA
VKORC1	HGNC:23663	MGI:106442	OMIM:122700|OMIM:607473|ORPHA:98434	Coumarin Resistance|Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 2|Hereditary Combined Deficiency Of Vitamin K-Dependent Clotting Factors	yes	yes	yes	no	NA
VKORC1L1	HGNC:21492	MGI:1916818	-	-	yes	no	no	no	NA
VLDLR	HGNC:12698	MGI:98935	OMIM:224050|ORPHA:1766	Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1|Dysequilibrium Syndrome	yes	yes	yes	no	NA
VMA21	HGNC:22082	MGI:1914298	OMIM:310440|ORPHA:25980	Myopathy, X-Linked, With Excessive Autophagy|X-Linked Myopathy With Excessive Autophagy	no	no	no	no	NA
VMAC	HGNC:33803	MGI:2146912	-	-	no	no	no	no	NA
VMO1	HGNC:30387	MGI:2685587	-	-	no	no	no	no	NA
VMP1	HGNC:29559	MGI:1923159	-	-	yes	no	no	no	NA
VNN1	HGNC:12705	MGI:108395	-	-	yes	no	no	no	NA
VOPP1	HGNC:34518	MGI:2141658	-	-	yes	no	no	no	NA
VPREB3	HGNC:12710	MGI:98938	-	-	yes	no	no	no	NA
VPS11	HGNC:14583	MGI:1918982	OMIM:619637|OMIM:616683|ORPHA:466934	Dystonia 32|Leukodystrophy, Hypomyelinating, 12|Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	yes	yes	yes	no	NA
VPS13A	HGNC:1908	MGI:2444304	OMIM:200150|ORPHA:2388	Choreoacanthocytosis	yes	yes	yes	yes	16.82
VPS13B	HGNC:2183	MGI:1916380	OMIM:216550|ORPHA:193	Cohen Syndrome	yes	yes	yes	yes	45.275
VPS13C	HGNC:23594	MGI:2444207	OMIM:616840|ORPHA:2828	Parkinson Disease 23, Autosomal Recessive Early-Onset|Young-Onset Parkinson Disease	yes	yes	yes	yes	38.4
VPS13D	HGNC:23595	MGI:2448530	OMIM:607317|ORPHA:95434	Spinocerebellar Ataxia, Autosomal Recessive 4|Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	yes	yes	yes	no	NA
VPS16	HGNC:14584	MGI:2136772	OMIM:619291	Dystonia 30	no	no	no	no	NA
VPS18	HGNC:15972	MGI:2443626	-	-	no	no	no	no	NA
VPS25	HGNC:28122	MGI:106354	-	-	yes	no	no	no	NA
VPS26A	HGNC:12711	MGI:1353654	-	-	no	no	no	no	NA
VPS26B	HGNC:28119	MGI:1917656	-	-	no	no	no	no	NA
VPS26C	HGNC:3044	MGI:1206040	-	-	yes	no	no	no	NA
VPS28	HGNC:18178	MGI:1914164	-	-	no	no	no	no	NA
VPS29	HGNC:14340	MGI:1928344	-	-	yes	no	no	no	NA
VPS33A	HGNC:18179	MGI:1924823	OMIM:617303|ORPHA:505248	Mucopolysaccharidosis-Plus Syndrome|Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	yes	yes	yes	yes	54.66
VPS33B	HGNC:12712	MGI:2446237	OMIM:208085|OMIM:620010|OMIM:620009|ORPHA:2697	Arthrogryposis, Renal Dysfunction, And Cholestasis 1|Cholestasis, Progressive Familial Intrahepatic, 12|Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive|Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome	yes	yes	yes	yes	23.12
VPS35	HGNC:13487	MGI:1890467	OMIM:614203|ORPHA:411602	Parkinson Disease 17|Hereditary Late-Onset Parkinson Disease	yes	yes	yes	yes	32.895
VPS35L	HGNC:24641	MGI:1918767	OMIM:619135|ORPHA:7	Ritscher-Schinzel Syndrome 3|3C Syndrome	no	no	no	no	NA
VPS36	HGNC:20312	MGI:1917410	-	-	yes	no	no	no	NA
VPS37A	HGNC:24928	MGI:1261835	OMIM:614898|ORPHA:319199	Spastic Paraplegia 53, Autosomal Recessive|Autosomal Recessive Spastic Paraplegia Type 53	yes	yes	yes	yes	21.895
VPS37B	HGNC:25754	MGI:1916724	-	-	yes	no	no	no	NA
VPS37C	HGNC:26097	MGI:2147661	-	-	no	no	no	no	NA
VPS37D	HGNC:18287	MGI:2159402	ORPHA:904	Williams Syndrome	yes	yes	yes	yes	23.05
VPS39	HGNC:20593	MGI:2443189	-	-	yes	no	no	no	NA
VPS41	HGNC:12713	MGI:1929215	OMIM:619389|ORPHA:95434	Spinocerebellar Ataxia, Autosomal Recessive 29|Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	no	no	no	no	NA
VPS45	HGNC:14579	MGI:891965	OMIM:615285|ORPHA:369852	Neutropenia, Severe Congenital, 5, Autosomal Recessive|Congenital Neutropenia-Myelofibrosis-Nephromegaly Syndrome	no	no	no	no	NA
VPS4A	HGNC:13488	MGI:1890520	OMIM:619273	Cimdag Syndrome	yes	yes	yes	yes	44.965
VPS4B	HGNC:10895	MGI:1100499	ORPHA:99789	Dentin Dysplasia Type I	no	no	no	no	NA
VPS50	HGNC:25956	MGI:1920538	OMIM:619685	Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	no	no	no	no	NA
VPS51	HGNC:1172	MGI:1915755	OMIM:618606	Pontocerebellar Hypoplasia, Type 13	yes	yes	yes	no	NA
VPS52	HGNC:10518	MGI:1330304	-	-	no	no	no	no	NA
VPS53	HGNC:25608	MGI:1915549	OMIM:615851|ORPHA:247198	Pontocerebellar Hypoplasia, Type 2E|Progressive Cerebello-Cerebral Atrophy	yes	yes	yes	yes	27.91
VPS54	HGNC:18652	MGI:2178798	-	-	yes	no	no	no	NA
VPS72	HGNC:11644	MGI:1202305	-	-	yes	no	no	no	NA
VPS8	HGNC:29122	MGI:2146407	-	-	no	no	no	no	NA
VPS9D1	HGNC:13526	MGI:1914143	-	-	yes	no	no	no	NA
VRK1	HGNC:12718	MGI:1261847	OMIM:620542|OMIM:607596|ORPHA:2254|ORPHA:423894	Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10|Pontocerebellar Hypoplasia, Type 1A|Pontocerebellar Hypoplasia Type 1|Microcephaly-Complex Motor And Sensory Axonal Neuropathy Syndrome	yes	yes	yes	yes	22.355
VRK2	HGNC:12719	MGI:1917172	-	-	no	no	no	no	NA
VRK3	HGNC:18996	MGI:2182465	-	-	yes	no	no	no	NA
VRTN	HGNC:20223	MGI:3588197	-	-	no	no	no	no	NA
VSIG1	HGNC:28675	MGI:1926039	-	-	no	no	no	no	NA
VSIG10	HGNC:26078	MGI:2448533	-	-	yes	no	no	no	NA
VSIG10L	HGNC:27111	MGI:1922940	-	-	no	no	no	no	NA
VSIG10L2	HGNC:27879	MGI:2685959	-	-	no	no	no	no	NA
VSIG2	HGNC:17149	MGI:1928009	-	-	no	no	no	no	NA
VSIG4	HGNC:17032	MGI:2679720	-	-	yes	no	no	no	NA
VSIG8	HGNC:32063	MGI:3642995	-	-	yes	no	no	no	NA
VSIR	HGNC:30085	MGI:1921298	-	-	yes	no	no	no	NA
VSNL1	HGNC:12722	MGI:1349453	-	-	no	no	no	no	NA
VSTM2A	HGNC:28499	MGI:2384826	-	-	yes	no	no	no	NA
VSTM2B	HGNC:33595	MGI:1914525	-	-	no	no	no	no	NA
VSTM2L	HGNC:16096	MGI:2685537	-	-	no	no	no	no	NA
VSTM4	HGNC:26470	MGI:2444633	-	-	yes	no	no	no	NA
VSTM5	HGNC:34443	MGI:1916387	-	-	no	no	no	no	NA
VSX1	HGNC:12723	MGI:1890816	OMIM:614195|OMIM:148300|ORPHA:2335|ORPHA:98973	Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome|Keratoconus 1|Non Rare In Europe: Isolated Keratoconus|Posterior Polymorphous Corneal Dystrophy	no	no	no	no	NA
VSX2	HGNC:1975	MGI:88401	OMIM:610092|OMIM:610093|ORPHA:98938	Microphthalmia, Isolated, With Coloboma 3|Microphthalmia, Isolated 2|Colobomatous Microphthalmia	no	no	no	no	NA
VTA1	HGNC:20954	MGI:1913451	-	-	no	no	no	no	NA
VTCN1	HGNC:28873	MGI:3039619	-	-	no	no	no	no	NA
VTI1A	HGNC:17792	MGI:1855699	-	-	yes	no	no	no	NA
VTI1B	HGNC:17793	MGI:1855688	-	-	no	no	no	no	NA
VTN	HGNC:12724	MGI:98940	-	-	no	no	no	no	NA
VWA1	HGNC:30910	MGI:2179729	OMIM:619216|ORPHA:314485	Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7|Young Adult-Onset Distal Hereditary Motor Neuropathy	yes	no	yes	no	NA
VWA2	HGNC:24709	MGI:2684334	-	-	yes	no	no	no	NA
VWA3A	HGNC:27088	MGI:3041229	-	-	yes	no	no	no	NA
VWA3B	HGNC:28385	MGI:1918103	OMIM:616948	Spinocerebellar Ataxia, Autosomal Recessive 22	yes	no	yes	no	NA
VWA5B1	HGNC:26538	MGI:1922968	-	-	yes	no	no	no	NA
VWA5B2	HGNC:25144	MGI:2681859	-	-	no	no	no	no	NA
VWA7	HGNC:13939	MGI:1306798	-	-	yes	no	no	no	NA
VWA8	HGNC:29071	MGI:1919008	OMIM:620422	Retinitis Pigmentosa 97	yes	yes	yes	no	NA
VWC2	HGNC:30200	MGI:2442987	-	-	no	no	no	no	NA
VWC2L	HGNC:37203	MGI:2444069	-	-	yes	no	no	no	NA
VWCE	HGNC:26487	MGI:1919018	-	-	yes	no	no	no	NA
VWDE	HGNC:21897	MGI:2685313	-	-	yes	no	no	no	NA
VWF	HGNC:12726	MGI:98941	OMIM:193400|OMIM:277480|OMIM:613554|ORPHA:166078|ORPHA:166084|ORPHA:166090|ORPHA:166087|ORPHA:166093|ORPHA:166096	Von Willebrand Disease, Type 1|Von Willebrand Disease, Type 3|Von Willebrand Disease, Type 2|Von Willebrand Disease Type 1|Von Willebrand Disease Type 2A|Von Willebrand Disease Type 2M|Von Willebrand Disease Type 2B|Von Willebrand Disease Type 2N|Von Willebrand Disease Type 3	no	no	no	no	NA
VXN	HGNC:28498	MGI:1924232	-	-	yes	no	no	no	NA
WAC	HGNC:17327	MGI:2387357	OMIM:616708|ORPHA:284169|ORPHA:466950	Desanto-Shinawi Syndrome|Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion|Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	yes	yes	yes	yes	20.89
WAPL	HGNC:23293	MGI:2675859	-	-	no	no	no	no	NA
WARS1	HGNC:12729	MGI:104630	OMIM:620317|OMIM:617721|ORPHA:2512|ORPHA:528084	Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities|Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 9|Autosomal Recessive Primary Microcephaly|Non-Specific Syndromic Intellectual Disability	yes	yes	yes	yes	46.36
WARS2	HGNC:12730	MGI:1917810	OMIM:617710|OMIM:619738|ORPHA:572798	Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures|Parkinsonism-Dystonia 3, Childhood-Onset|Wars2-Related Combined Oxidative Phosphorylation Defect	yes	yes	yes	no	NA
WAS	HGNC:12731	MGI:105059	OMIM:300299|OMIM:313900|OMIM:301000|ORPHA:906|ORPHA:852|ORPHA:86788	Neutropenia, Severe Congenital, X-Linked|Thrombocytopenia 1|Wiskott-Aldrich Syndrome|X-Linked Thrombocytopenia With Normal Platelets|X-Linked Severe Congenital Neutropenia	no	no	no	no	NA
WASF1	HGNC:12732	MGI:1890563	OMIM:618707|ORPHA:528084	Neurodevelopmental Disorder With Absent Language And Variable Seizures|Non-Specific Syndromic Intellectual Disability	no	no	no	no	NA
WASF2	HGNC:12733	MGI:1098641	-	-	yes	no	no	no	NA
WASF3	HGNC:12734	MGI:2658986	-	-	no	no	no	no	NA
WASHC3	HGNC:24256	MGI:1914532	-	-	yes	no	no	no	NA
WASHC4	HGNC:29174	MGI:2441787	OMIM:615817|ORPHA:88616	Intellectual Developmental Disorder, Autosomal Recessive 43|Autosomal Recessive Non-Syndromic Intellectual Disability	yes	yes	yes	yes	35.315
WASHC5	HGNC:28984	MGI:2146110	OMIM:220210|OMIM:603563|ORPHA:7|ORPHA:100989	Ritscher-Schinzel Syndrome 1|Spastic Paraplegia 8, Autosomal Dominant|3C Syndrome|Autosomal Dominant Spastic Paraplegia Type 8	yes	yes	yes	no	NA
WASL	HGNC:12735	MGI:1920428	-	-	no	no	no	no	NA
WBP1	HGNC:12737	MGI:104710	-	-	no	no	no	no	NA
WBP11	HGNC:16461	MGI:1891823	OMIM:619227	Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	no	no	no	no	NA
WBP1L	HGNC:23510	MGI:107577	-	-	yes	no	no	no	NA
WBP2	HGNC:12738	MGI:104709	OMIM:617639|ORPHA:90636	Deafness, Autosomal Recessive 107|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	yes	yes	yes	no	NA
WBP2NL	HGNC:28389	MGI:1921966	-	-	yes	no	no	no	NA
WBP4	HGNC:12739	MGI:109568	-	-	no	no	no	no	NA
WDCP	HGNC:26157	MGI:3040699	-	-	yes	no	no	no	NA
WDFY1	HGNC:20451	MGI:1916618	-	-	yes	no	no	no	NA
WDFY2	HGNC:20482	MGI:2442811	-	-	no	no	no	no	NA
WDFY3	HGNC:20751	MGI:1096875	OMIM:617520|ORPHA:528084	Microcephaly 18, Primary, Autosomal Dominant|Non-Specific Syndromic Intellectual Disability	yes	yes	yes	no	NA
WDFY4	HGNC:29323	MGI:3584510	-	-	yes	no	no	no	NA
WDHD1	HGNC:23170	MGI:2443514	-	-	yes	no	no	no	NA
WDPCP	HGNC:28027	MGI:2144467	OMIM:615992|OMIM:217085|ORPHA:1338|ORPHA:110	Bardet-Biedl Syndrome 15|Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly|Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome|Bardet-Biedl Syndrome	no	no	no	no	NA
WDR1	HGNC:12754	MGI:1337100	OMIM:150550	Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	yes	yes	yes	no	NA
WDR11	HGNC:13831	MGI:1920230	OMIM:614858|OMIM:620237|ORPHA:478|ORPHA:432|ORPHA:95496	Hypogonadotropic Hypogonadism 14 With Or Without Anosmia|Intellectual Developmental Disorder, Autosomal Recessive 78|Kallmann Syndrome|Normosmic Congenital Hypogonadotropic Hypogonadism|Pituitary Stalk Interruption Syndrome	yes	yes	yes	yes	46.33
WDR12	HGNC:14098	MGI:1927241	-	-	yes	no	no	no	NA
WDR13	HGNC:14352	MGI:1914661	-	-	no	no	no	no	NA
WDR17	HGNC:16661	MGI:1924662	-	-	yes	no	no	no	NA
WDR18	HGNC:17956	MGI:2158400	-	-	yes	no	no	no	NA
WDR19	HGNC:18340	MGI:2443231	OMIM:619867|OMIM:614378|OMIM:614377|OMIM:616307|OMIM:614376|ORPHA:474|ORPHA:1515|ORPHA:3156|ORPHA:93592	Spermatogenic Failure 72|Cranioectodermal Dysplasia 4|Nephronophthisis 13|Senior-Loken Syndrome 8|Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly|Jeune Syndrome|Cranioectodermal Dysplasia|Senior-Loken Syndrome|Juvenile Nephronophthisis	no	no	no	no	NA
WDR24	HGNC:20852	MGI:2446285	-	-	yes	no	no	no	NA
WDR25	HGNC:21064	MGI:3045255	-	-	yes	no	no	no	NA
WDR26	HGNC:21208	MGI:1923825	OMIM:617616|ORPHA:513456	Skraban-Deardorff Syndrome|Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	no	no	no	no	NA
WDR27	HGNC:21248	MGI:1918932	-	-	yes	no	no	no	NA
WDR3	HGNC:12755	MGI:2443143	-	-	no	no	no	no	NA
WDR31	HGNC:21421	MGI:1918604	-	-	no	no	no	no	NA
WDR33	HGNC:25651	MGI:1921570	-	-	yes	no	no	no	NA
WDR35	HGNC:29250	MGI:1921932	OMIM:613610|OMIM:614091|ORPHA:1515|ORPHA:498497|ORPHA:93271	Cranioectodermal Dysplasia 2|Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly|Cranioectodermal Dysplasia|Short Rib-Polydactyly Syndrome Type 5|Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	no	no	no	no	NA
WDR36	HGNC:30696	MGI:1917819	OMIM:609887|ORPHA:353225	Glaucoma 1, Open Angle, G|Non Rare In Europe: Primary Adult Open-Angle Glaucoma	yes	yes	yes	no	NA
WDR37	HGNC:31406	MGI:1920393	OMIM:618652	Neurooculocardiogenitourinary Syndrome	yes	yes	yes	no	NA
WDR38	HGNC:23745	MGI:1923896	-	-	no	no	no	no	NA
WDR4	HGNC:12756	MGI:1889002	OMIM:618347|OMIM:618346|ORPHA:2065	Galloway-Mowat Syndrome 6|Microcephaly, Growth Deficiency, Seizures, And Brain Malformations|Galloway-Mowat Syndrome	yes	yes	yes	yes	22.095
WDR41	HGNC:25601	MGI:2445123	-	-	yes	no	no	no	NA
WDR43	HGNC:28945	MGI:1919765	-	-	no	no	no	no	NA
WDR44	HGNC:30512	MGI:1919654	-	-	no	no	no	no	NA
WDR45	HGNC:28912	MGI:1859606	OMIM:300894|ORPHA:3451|ORPHA:329284	Neurodegeneration With Brain Iron Accumulation 5|Infantile Spasms Syndrome|Beta-Propeller Protein-Associated Neurodegeneration	yes	yes	yes	yes	39.29
WDR45B	HGNC:25072	MGI:1914090	OMIM:617977	Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	yes	yes	yes	no	NA
WDR46	HGNC:13923	MGI:1931871	-	-	no	no	no	no	NA
WDR47	HGNC:29141	MGI:2139593	-	-	yes	no	no	no	NA
WDR48	HGNC:30914	MGI:1914811	ORPHA:401800	Autosomal Recessive Spastic Paraplegia Type 60	no	no	no	no	NA
WDR49	HGNC:26587	MGI:3645287	-	-	yes	no	no	no	NA
WDR5	HGNC:12757	MGI:2155884	-	-	no	no	no	no	NA
WDR53	HGNC:28786	MGI:1916230	-	-	yes	no	no	no	NA
WDR54	HGNC:25770	MGI:1922909	-	-	no	no	no	no	NA
WDR55	HGNC:25971	MGI:1915186	-	-	no	no	no	no	NA
WDR59	HGNC:25706	MGI:2442115	-	-	yes	no	no	no	NA
WDR5B	HGNC:17826	MGI:1916794	-	-	no	no	no	no	NA
WDR6	HGNC:12758	MGI:1930140	-	-	yes	no	no	no	NA
WDR62	HGNC:24502	MGI:1923696	OMIM:604317|ORPHA:2512	Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations|Autosomal Recessive Primary Microcephaly	yes	yes	yes	yes	37.995
WDR64	HGNC:26570	MGI:1923070	-	-	yes	no	no	no	NA
WDR7	HGNC:13490	MGI:1860197	-	-	no	no	no	no	NA
WDR70	HGNC:25495	MGI:1921020	-	-	yes	no	no	no	NA
WDR72	HGNC:26790	MGI:3583957	OMIM:613211|ORPHA:402041|ORPHA:100033	Amelogenesis Imperfecta, Hypomaturation Type, Iia3|Autosomal Recessive Distal Renal Tubular Acidosis|Hypomaturation Amelogenesis Imperfecta	no	no	no	no	NA
WDR73	HGNC:25928	MGI:1919218	OMIM:251300|ORPHA:2065|ORPHA:83472	Galloway-Mowat Syndrome 1|Galloway-Mowat Syndrome|Camos Syndrome	yes	yes	yes	yes	17.765
WDR74	HGNC:25529	MGI:2147427	-	-	yes	no	no	no	NA
WDR75	HGNC:25725	MGI:1920924	-	-	no	no	no	no	NA
WDR76	HGNC:25773	MGI:1926186	-	-	no	no	no	no	NA
WDR77	HGNC:29652	MGI:1917715	-	-	no	no	no	no	NA
WDR81	HGNC:26600	MGI:2681828	OMIM:610185|OMIM:617967|ORPHA:1766	Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2|Hydrocephalus, Congenital, 3, With Brain Anomalies|Dysequilibrium Syndrome	yes	yes	yes	no	NA
WDR82	HGNC:28826	MGI:1924555	-	-	no	no	no	no	NA
WDR83	HGNC:32672	MGI:1915086	-	-	no	no	no	no	NA
WDR83OS	HGNC:30203	MGI:3041257	-	-	no	no	no	no	NA
WDR86	HGNC:28020	MGI:1915466	-	-	no	no	no	no	NA
WDR88	HGNC:26999	MGI:2686275	-	-	no	no	no	no	NA
WDR89	HGNC:20489	MGI:1919588	-	-	yes	no	no	no	NA
WDR90	HGNC:26960	MGI:1921267	-	-	yes	no	no	no	NA
WDR91	HGNC:24997	MGI:2141558	-	-	yes	no	no	no	NA
WDR93	HGNC:26924	MGI:3646885	-	-	no	no	no	no	NA
WDR97	HGNC:26959	MGI:5594498	-	-	no	no	no	no	NA
WDSUB1	HGNC:26697	MGI:1919387	-	-	yes	no	no	no	NA
WDTC1	HGNC:29175	MGI:2685541	-	-	yes	no	no	no	NA
WEE1	HGNC:12761	MGI:103075	-	-	yes	no	no	no	NA
WEE2	HGNC:19684	MGI:3027899	OMIM:617996|ORPHA:488191	Oocyte/Zygote/Embryo Maturation Arrest 5|Female Infertility Due To Oocyte Meiotic Arrest	yes	yes	yes	no	NA
WFDC1	HGNC:15466	MGI:1915116	-	-	yes	no	no	no	NA
WFDC10A	HGNC:16139	MGI:3616889	-	-	no	no	no	no	NA
WFDC11	HGNC:20478	MGI:3651686	-	-	yes	no	no	no	NA
WFDC12	HGNC:16115	MGI:2183434	-	-	no	no	no	no	NA
WFDC13	HGNC:16131	MGI:3582777	-	-	no	no	no	no	NA
WFDC2	HGNC:15939	MGI:1914951	-	-	yes	no	no	no	NA
WFDC3	HGNC:15957	MGI:1923897	-	-	no	no	no	no	NA
WFDC5	HGNC:20477	MGI:2384800	-	-	no	no	no	no	NA
WFDC8	HGNC:16163	MGI:2685552	-	-	no	no	no	no	NA
WFDC9	HGNC:20380	MGI:3652032	-	-	no	no	no	no	NA
WFIKKN1	HGNC:30912	MGI:2670967	-	-	no	no	no	no	NA
WFIKKN2	HGNC:30916	MGI:2669209	-	-	yes	no	no	no	NA
WFS1	HGNC:12762	MGI:1328355	OMIM:116400|OMIM:600965|OMIM:125853|OMIM:222300|OMIM:614296|ORPHA:3463|ORPHA:411590|ORPHA:90635|ORPHA:98991	Cataract 41|Deafness, Autosomal Dominant 6|Type 2 Diabetes Mellitus|Wolfram Syndrome 1|Wolfram-Like Syndrome, Autosomal Dominant|Wolfram Syndrome|Wolfram-Like Syndrome|Rare Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna|Early-Onset Nuclear Cataract	no	no	no	no	NA
WHAMM	HGNC:30493	MGI:2142282	-	-	yes	no	no	no	NA
WHRN	HGNC:16361	MGI:2682003	OMIM:607084|OMIM:611383|ORPHA:231178|ORPHA:90636	Deafness, Autosomal Recessive 31|Usher Syndrome, Type Iid|Usher Syndrome Type 2|Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	yes	yes	yes	no	NA
WIF1	HGNC:18081	MGI:1344332	-	-	yes	no	no	no	NA
WIPF1	HGNC:12736	MGI:2178801	OMIM:614493|ORPHA:906	Wiskott-Aldrich Syndrome 2|Wiskott-Aldrich Syndrome	no	no	no	no	NA
WIPF2	HGNC:30923	MGI:1924462	-	-	no	no	no	no	NA
WIPF3	HGNC:22004	MGI:3044681	-	-	no	no	no	no	NA
WIPI1	HGNC:25471	MGI:1261864	-	-	yes	no	no	no	NA
WIPI2	HGNC:32225	MGI:1923831	OMIM:618453	Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	yes	yes	yes	no	NA
WIZ	HGNC:30917	MGI:1332638	-	-	yes	no	no	no	NA
WLS	HGNC:30238	MGI:1915401	OMIM:619648	Zaki Syndrome	no	no	no	no	NA
WNK1	HGNC:14540	MGI:2442092	OMIM:201300|OMIM:614492|ORPHA:970|ORPHA:88940	Neuropathy, Hereditary Sensory And Autonomic, Type Iia|Pseudohypoaldosteronism, Type Iic|Hereditary Sensory And Autonomic Neuropathy Type 2|Pseudohypoaldosteronism Type 2C	no	no	no	no	NA
WNK2	HGNC:14542	MGI:1922857	-	-	yes	no	no	no	NA
WNK3	HGNC:14543	MGI:2652875	-	-	no	no	no	no	NA
WNK4	HGNC:14544	MGI:1917097	OMIM:614491|ORPHA:88939	Pseudohypoaldosteronism, Type Iib|Pseudohypoaldosteronism Type 2B	no	no	no	no	NA
WNT1	HGNC:12774	MGI:98953	OMIM:615220|OMIM:615221|ORPHA:216812|ORPHA:216820|ORPHA:85193	Osteogenesis Imperfecta, Type Xv|Bone Mineral Density Quantitative Trait Locus 16|Osteogenesis Imperfecta Type 3|Osteogenesis Imperfecta Type 4|Idiopathic Juvenile Osteoporosis	yes	yes	yes	no	NA
WNT10A	HGNC:13829	MGI:108071	OMIM:257980|OMIM:224750|OMIM:150400|ORPHA:2227|ORPHA:2721|ORPHA:248|ORPHA:50944|ORPHA:99798	Odontoonychodermal Dysplasia|Schopf-Schulz-Passarge Syndrome|Tooth Agenesis, Selective, 4|Non Rare In Europe: Hypodontia|Odonto-Onycho-Dermal Dysplasia|Autosomal Recessive Hypohidrotic Ectodermal Dysplasia|Schöpf-Schulz-Passarge Syndrome|Oligodontia	yes	yes	yes	yes	43.33
WNT10B	HGNC:12775	MGI:108061	OMIM:225300|OMIM:617073|ORPHA:2440|ORPHA:99798	Split-Hand/Foot Malformation 6|Tooth Agenesis, Selective, 8|Isolated Split Hand-Split Foot Malformation|Oligodontia	yes	yes	yes	no	NA
WNT11	HGNC:12776	MGI:101948	-	-	yes	no	no	no	NA
WNT16	HGNC:16267	MGI:2136018	-	-	yes	no	no	no	NA
WNT2	HGNC:12780	MGI:98954	-	-	no	no	no	no	NA
WNT2B	HGNC:12781	MGI:1261834	OMIM:618168	Diarrhea 9	yes	yes	yes	no	NA
WNT3	HGNC:12782	MGI:98955	OMIM:273395|ORPHA:3301	Tetraamelia Syndrome 1|Tetraamelia-Multiple Malformations Syndrome	yes	yes	yes	no	NA
WNT3A	HGNC:15983	MGI:98956	ORPHA:85193	Idiopathic Juvenile Osteoporosis	no	no	no	no	NA
WNT4	HGNC:12783	MGI:98957	OMIM:611812|OMIM:158330|ORPHA:139466|ORPHA:247768|ORPHA:2578	46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs|Mullerian Aplasia And Hyperandrogenism|Serkal Syndrome|Müllerian Aplasia And Hyperandrogenism|Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	no	no	no	no	NA
WNT5A	HGNC:12784	MGI:98958	OMIM:180700|ORPHA:3107	Robinow Syndrome, Autosomal Dominant 1|Autosomal Dominant Robinow Syndrome	no	no	no	no	NA
WNT5B	HGNC:16265	MGI:98959	-	-	yes	no	no	no	NA
WNT6	HGNC:12785	MGI:98960	-	-	yes	no	no	no	NA
WNT7A	HGNC:12786	MGI:98961	OMIM:228930|OMIM:276820|ORPHA:2879|ORPHA:2854	Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly|Ulna And Fibula, Absence Of, With Severe Limb Deficiency|Phocomelia, Schinzel Type|Fuhrmann Syndrome	no	no	no	no	NA
WNT7B	HGNC:12787	MGI:98962	ORPHA:2470	Matthew-Wood Syndrome	no	no	no	no	NA
WNT8A	HGNC:12788	MGI:107924	-	-	no	no	no	no	NA
WNT8B	HGNC:12789	MGI:109485	-	-	no	no	no	no	NA
WNT9A	HGNC:12778	MGI:2446084	-	-	no	no	no	no	NA
WNT9B	HGNC:12779	MGI:1197020	ORPHA:1848	Renal Agenesis, Bilateral	no	no	no	no	NA
WRAP53	HGNC:25522	MGI:2384933	OMIM:613988|ORPHA:1775	Dyskeratosis Congenita, Autosomal Recessive 3|Dyskeratosis Congenita	yes	yes	yes	yes	17.505
WRAP73	HGNC:12759	MGI:1891749	-	-	no	no	no	no	NA
WRN	HGNC:12791	MGI:109635	OMIM:277700|ORPHA:902	Werner Syndrome	no	no	no	no	NA
WRNIP1	HGNC:20876	MGI:1926153	-	-	yes	no	no	no	NA
WSB1	HGNC:19221	MGI:1926139	-	-	no	no	no	no	NA
WSB2	HGNC:19222	MGI:2144041	-	-	yes	no	no	no	NA
WSCD1	HGNC:29060	MGI:2448493	-	-	yes	no	no	no	NA
WSCD2	HGNC:29117	MGI:2445030	-	-	yes	no	no	no	NA
WT1	HGNC:12796	MGI:98968	OMIM:194080|OMIM:136680|OMIM:608978|OMIM:156240|OMIM:256370|OMIM:194070|ORPHA:893|ORPHA:654|ORPHA:242|ORPHA:251510|ORPHA:3097|ORPHA:656|ORPHA:220|ORPHA:347|ORPHA:83469	Denys-Drash Syndrome|Frasier Syndrome|Meacham Syndrome|Mesothelioma, Malignant|Nephrotic Syndrome, Type 4|Wilms Tumor 1|Wagr Syndrome|Nephroblastoma|46,Xy Complete Gonadal Dysgenesis|46,Xy Partial Gonadal Dysgenesis|Genetic Steroid-Resistant Nephrotic Syndrome|Desmoplastic Small Round Cell Tumor	no	no	no	no	NA
WTAP	HGNC:16846	MGI:1926395	-	-	yes	no	no	no	NA
WTIP	HGNC:20964	MGI:2141920	-	-	yes	no	no	no	NA
WWC1	HGNC:29435	MGI:2388637	OMIM:615602	Memory Quantitative Trait Locus	no	no	no	no	NA
WWC2	HGNC:24148	MGI:1261872	-	-	yes	no	no	no	NA
WWOX	HGNC:12799	MGI:1931237	OMIM:616211|OMIM:133239|OMIM:614322|ORPHA:251510|ORPHA:284282|ORPHA:442835|ORPHA:99977	Developmental And Epileptic Encephalopathy 28|Esophageal Cancer|Spinocerebellar Ataxia, Autosomal Recessive 12|46,Xy Partial Gonadal Dysgenesis|Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency|Non-Specific Early-Onset Epileptic Encephalopathy|Squamous Cell Carcinoma Of The Esophagus	no	no	no	no	NA
WWP1	HGNC:17004	MGI:1861728	-	-	yes	no	no	no	NA
WWP2	HGNC:16804	MGI:1914144	-	-	no	no	no	no	NA
WWTR1	HGNC:24042	MGI:1917649	ORPHA:157791	Epithelioid Hemangioendothelioma	no	no	no	no	NA
XAB2	HGNC:14089	MGI:1914689	-	-	no	no	no	no	NA
XAF1	HGNC:30932	MGI:3772572	-	-	yes	no	no	no	NA
XBP1	HGNC:12801	MGI:98970	OMIM:612371	Major Affective Disorder 7	yes	yes	no	no	NA
XCR1	HGNC:1625	MGI:1346338	-	-	no	no	no	no	NA
XDH	HGNC:12805	MGI:98973	OMIM:278300|ORPHA:93601	Xanthinuria, Type I|Xanthinuria Type I	yes	yes	yes	no	NA
XIAP	HGNC:592	MGI:107572	OMIM:300635|ORPHA:538934	Lymphoproliferative Syndrome, X-Linked, 2|X-Linked Lymphoproliferative Disease Due To Xiap Deficiency	yes	yes	yes	yes	39.99
XIRP1	HGNC:14301	MGI:1333878	-	-	no	no	no	no	NA
XIRP2	HGNC:14303	MGI:2685198	-	-	no	no	no	no	NA
XK	HGNC:12811	MGI:103569	OMIM:300842|ORPHA:59306	Mcleod Syndrome|Mcleod Neuroacanthocytosis Syndrome	yes	yes	yes	yes	37.585
XKR4	HGNC:29394	MGI:3528744	-	-	yes	no	no	no	NA
XKR5	HGNC:20782	MGI:2442327	-	-	yes	no	no	no	NA
XKR6	HGNC:27806	MGI:2447765	-	-	no	no	no	no	NA
XKR7	HGNC:23062	MGI:3526711	-	-	yes	no	no	no	NA
XKR8	HGNC:25508	MGI:2685877	-	-	no	no	no	no	NA
XKR9	HGNC:20937	MGI:2686466	-	-	yes	no	no	no	NA
XKRX	HGNC:29845	MGI:3584011	-	-	yes	no	no	no	NA
XPA	HGNC:12814	MGI:99135	OMIM:278700|ORPHA:910	Xeroderma Pigmentosum, Complementation Group A|Xeroderma Pigmentosum	no	no	no	no	NA
XPC	HGNC:12816	MGI:103557	OMIM:278720|ORPHA:910	Xeroderma Pigmentosum, Complementation Group C|Xeroderma Pigmentosum	no	no	no	no	NA
XPNPEP1	HGNC:12822	MGI:2180003	-	-	yes	no	no	no	NA
XPNPEP2	HGNC:12823	MGI:2180001	OMIM:300909|ORPHA:100057	Angioedema Induced By Ace Inhibitors, Susceptibility To|Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	no	no	no	no	NA
XPNPEP3	HGNC:28052	MGI:2445217	OMIM:613159|ORPHA:93589	Nephronophthisis-Like Nephropathy 1|Late-Onset Nephronophthisis	yes	yes	yes	yes	17.83
XPO1	HGNC:12825	MGI:2144013	ORPHA:98838	Primary Mediastinal Large B-Cell Lymphoma	yes	yes	no	no	NA
XPO4	HGNC:17796	MGI:1888526	-	-	yes	no	no	no	NA
XPO5	HGNC:17675	MGI:1913789	-	-	yes	no	no	no	NA
XPO6	HGNC:19733	MGI:2429950	-	-	no	no	no	no	NA
XPO7	HGNC:14108	MGI:1929705	-	-	no	no	no	no	NA
XPOT	HGNC:12826	MGI:1920442	-	-	yes	no	no	no	NA
XPR1	HGNC:12827	MGI:97932	OMIM:616413|ORPHA:1980	Basal Ganglia Calcification, Idiopathic, 6|Bilateral Striopallidodentate Calcinosis	no	no	no	no	NA
XRCC1	HGNC:12828	MGI:99137	OMIM:617633	Spinocerebellar Ataxia, Autosomal Recessive 26	no	no	no	no	NA
XRCC2	HGNC:12829	MGI:1927345	OMIM:617247|OMIM:619146|OMIM:619145|ORPHA:84|ORPHA:227535|ORPHA:399805	Fanconi Anemia, Complementation Group U|Premature Ovarian Failure 17|Spermatogenic Failure 50|Fanconi Anemia|Hereditary Breast Cancer|Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	no	no	no	no	NA
XRCC3	HGNC:12830	MGI:1921585	OMIM:114480|OMIM:613972	Breast Cancer|Melanoma, Cutaneous Malignant, Susceptibility To, 6	yes	yes	yes	no	NA
XRCC4	HGNC:12831	MGI:1333799	OMIM:616541|ORPHA:436182|ORPHA:99812	Short Stature, Microcephaly, And Endocrine Dysfunction|Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome|Lig4 Syndrome	no	no	no	no	NA
XRCC5	HGNC:12833	MGI:104517	-	-	no	no	no	no	NA
XRCC6	HGNC:4055	MGI:95606	-	-	no	no	no	no	NA
XRN1	HGNC:30654	MGI:891964	-	-	no	no	no	no	NA
XRN2	HGNC:12836	MGI:894687	-	-	no	no	no	no	NA
XRRA1	HGNC:18868	MGI:2181647	-	-	no	no	no	no	NA
XXYLT1	HGNC:26639	MGI:2146443	-	-	yes	no	no	no	NA
XYLB	HGNC:12839	MGI:2142985	-	-	yes	no	no	no	NA
XYLT1	HGNC:15516	MGI:2451073	OMIM:615777|OMIM:264800|ORPHA:1425|ORPHA:370930	Desbuquois Dysplasia 2|Pseudoxanthoma Elasticum|Desbuquois Syndrome|Xylt1-Cdg	yes	yes	yes	yes	19.14
XYLT2	HGNC:15517	MGI:2444797	OMIM:264800|OMIM:605822|ORPHA:85194	Pseudoxanthoma Elasticum|Spondyloocular Syndrome|Spondylo-Ocular Syndrome	no	no	no	no	NA
YAE1	HGNC:24857	MGI:1914258	-	-	yes	no	no	no	NA
YAF2	HGNC:17363	MGI:1914307	-	-	no	no	no	no	NA
YAP1	HGNC:16262	MGI:103262	OMIM:120433|ORPHA:1473|ORPHA:157791	Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development|Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability|Epithelioid Hemangioendothelioma	yes	yes	yes	no	NA
YARS1	HGNC:12840	MGI:2147627	OMIM:608323|OMIM:619418|ORPHA:100045	Charcot-Marie-Tooth Disease, Dominant Intermediate C|Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2|Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type C	yes	yes	yes	no	NA
YARS2	HGNC:24249	MGI:1917370	OMIM:613561|ORPHA:2598	Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2|Mitochondrial Myopathy And Sideroblastic Anemia	no	no	no	no	NA
YBEY	HGNC:1299	MGI:2656825	-	-	no	no	no	no	NA
YBX1	HGNC:8014	MGI:99146	-	-	no	no	no	no	NA
YBX2	HGNC:17948	MGI:1096372	-	-	no	no	no	no	NA
YBX3	HGNC:2428	MGI:2137670	-	-	yes	no	no	no	NA
YDJC	HGNC:27158	MGI:1916351	-	-	yes	no	no	no	NA
YEATS2	HGNC:25489	MGI:2447762	OMIM:615127|ORPHA:86814	Epilepsy, Familial Adult Myoclonic, 4|Benign Adult Familial Myoclonic Epilepsy	yes	yes	yes	yes	41.255
YEATS4	HGNC:24859	MGI:1927224	-	-	no	no	no	no	NA
YES1	HGNC:12841	MGI:99147	-	-	no	no	no	no	NA
YIF1A	HGNC:16688	MGI:1915340	-	-	yes	no	no	no	NA
YIF1B	HGNC:30511	MGI:1924504	OMIM:619125|ORPHA:88616	Kaya-Barakat-Masson Syndrome|Autosomal Recessive Non-Syndromic Intellectual Disability	no	no	no	no	NA
YIPF1	HGNC:25231	MGI:1915532	-	-	yes	no	no	no	NA
YIPF2	HGNC:28476	MGI:1922016	-	-	no	no	no	no	NA
YIPF3	HGNC:21023	MGI:106280	-	-	no	no	no	no	NA
YIPF4	HGNC:28145	MGI:1915114	-	-	no	no	no	no	NA
YIPF5	HGNC:24877	MGI:1914430	OMIM:619278|ORPHA:306558	Microcephaly, Epilepsy, And Diabetes Syndrome 2|Primary Microcephaly-Epilepsy-Permanent Neonatal Diabetes Syndrome	yes	yes	yes	yes	25.555
YIPF6	HGNC:28304	MGI:1925179	-	-	yes	no	no	no	NA
YIPF7	HGNC:26825	MGI:1922831	-	-	yes	no	no	no	NA
YJEFN3	HGNC:24785	MGI:2681845	-	-	no	no	no	no	NA
YJU2	HGNC:25518	MGI:1920136	-	-	yes	no	no	no	NA
YJU2B	HGNC:28118	MGI:1914986	-	-	no	no	no	no	NA
YKT6	HGNC:16959	MGI:1927550	-	-	yes	no	no	no	NA
YLPM1	HGNC:17798	MGI:1926195	-	-	yes	no	no	no	NA
YME1L1	HGNC:12843	MGI:1351651	OMIM:617302|ORPHA:98676	Optic Atrophy 11|Autosomal Recessive Isolated Optic Atrophy	no	no	no	no	NA
YOD1	HGNC:25035	MGI:2442596	-	-	yes	no	no	no	NA
YPEL1	HGNC:12845	MGI:1913303	-	-	yes	no	no	no	NA
YPEL2	HGNC:18326	MGI:1925114	-	-	yes	no	no	no	NA
YPEL3	HGNC:18327	MGI:1913340	-	-	yes	no	no	no	NA
YPEL4	HGNC:18328	MGI:3605071	-	-	yes	no	no	no	NA
YPEL5	HGNC:18329	MGI:1916937	-	-	no	no	no	no	NA
YRDC	HGNC:28905	MGI:2387201	OMIM:619609|ORPHA:2065	Galloway-Mowat Syndrome 10|Galloway-Mowat Syndrome	no	no	no	no	NA
YTHDC1	HGNC:30626	MGI:2443713	-	-	no	no	no	no	NA
YTHDC2	HGNC:24721	MGI:2448561	-	-	yes	no	no	no	NA
YTHDF1	HGNC:15867	MGI:1917431	-	-	no	no	no	no	NA
YTHDF2	HGNC:31675	MGI:2444233	-	-	yes	no	no	no	NA
YTHDF3	HGNC:26465	MGI:1918850	-	-	yes	no	no	no	NA
YWHAB	HGNC:12849	MGI:1891917	-	-	yes	no	no	no	NA
YWHAE	HGNC:12851	MGI:894689	ORPHA:261257|ORPHA:213711|ORPHA:217385|ORPHA:531|ORPHA:457246	Distal 17P13.3 Microdeletion Syndrome|Endometrial Stromal Sarcoma|17P13.3 Microduplication Syndrome|Miller-Dieker Syndrome|Clear Cell Sarcoma Of Kidney	no	no	no	no	NA
YWHAG	HGNC:12852	MGI:108109	OMIM:617665|ORPHA:442835	Developmental And Epileptic Encephalopathy 56|Non-Specific Early-Onset Epileptic Encephalopathy	no	no	no	no	NA
YWHAH	HGNC:12853	MGI:109194	-	-	no	no	no	no	NA
YWHAQ	HGNC:12854	MGI:891963	-	-	yes	no	no	no	NA
YWHAZ	HGNC:12855	MGI:109484	ORPHA:178469	Autosomal Dominant Non-Syndromic Intellectual Disability	yes	yes	no	no	NA
YY1	HGNC:12856	MGI:99150	OMIM:617557|ORPHA:506358|ORPHA:97279	Gabriele-De Vries Syndrome|Insulinoma	no	no	no	no	NA
YY2	HGNC:31684	MGI:3837947	-	-	yes	no	no	no	NA
ZAN	HGNC:12857	MGI:106656	-	-	no	no	no	no	NA
ZAP70	HGNC:12858	MGI:99613	OMIM:617006|OMIM:269840|ORPHA:911	Autoimmune Disease, Multisystem, Infantile-Onset, 2|Immunodeficiency 48|Combined Immunodeficiency Due To Zap70 Deficiency	no	no	no	no	NA
ZAR1	HGNC:20436	MGI:2180337	-	-	no	no	no	no	NA
ZAR1L	HGNC:37116	MGI:3690051	-	-	no	no	no	no	NA
ZBBX	HGNC:26245	MGI:2674085	-	-	no	no	no	no	NA
ZBED3	HGNC:20711	MGI:1919364	-	-	no	no	no	no	NA
ZBED4	HGNC:20721	MGI:2682302	-	-	yes	no	no	no	NA
ZBED6	HGNC:33273	MGI:3828086	-	-	yes	no	no	no	NA
ZBP1	HGNC:16176	MGI:1927449	-	-	no	no	no	no	NA
ZBTB1	HGNC:20259	MGI:2442326	-	-	no	no	no	no	NA
ZBTB10	HGNC:30953	MGI:2139883	-	-	no	no	no	no	NA
ZBTB11	HGNC:16740	MGI:2443876	OMIM:618383	Intellectual Developmental Disorder, Autosomal Recessive 69	no	no	no	no	NA
ZBTB12	HGNC:19066	MGI:88133	-	-	yes	no	no	no	NA
ZBTB14	HGNC:12860	MGI:1195345	-	-	no	no	no	no	NA
ZBTB16	HGNC:12930	MGI:103222	ORPHA:520|ORPHA:99861	Acute Promyelocytic Leukemia|Precursor T-Cell Acute Lymphoblastic Leukemia	yes	yes	yes	yes	32.5
ZBTB17	HGNC:12936	MGI:107410	-	-	no	no	no	no	NA
ZBTB18	HGNC:13030	MGI:1353609	OMIM:612337|ORPHA:36367	Intellectual Developmental Disorder, Autosomal Dominant 22|Distal Deletion 1Q	no	no	no	no	NA
ZBTB2	HGNC:20868	MGI:2685949	-	-	no	no	no	no	NA
ZBTB20	HGNC:13503	MGI:1929213	OMIM:259050|ORPHA:3042	Primrose Syndrome|Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	no	no	no	no	NA
ZBTB21	HGNC:13083	MGI:1927240	-	-	no	no	no	no	NA
ZBTB22	HGNC:13085	MGI:1931870	-	-	no	no	no	no	NA
ZBTB24	HGNC:21143	MGI:3039618	OMIM:614069|ORPHA:2268	Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2|Icf Syndrome	yes	yes	yes	yes	33.065
ZBTB25	HGNC:13112	MGI:99197	-	-	no	no	no	no	NA
ZBTB26	HGNC:23383	MGI:2444402	-	-	no	no	no	no	NA
ZBTB3	HGNC:22918	MGI:1922541	-	-	no	no	no	no	NA
ZBTB32	HGNC:16763	MGI:1891838	-	-	yes	no	no	no	NA
ZBTB33	HGNC:16682	MGI:1927290	-	-	no	no	no	no	NA
ZBTB34	HGNC:31446	MGI:2685195	-	-	yes	no	no	no	NA
ZBTB37	HGNC:28365	MGI:2444467	-	-	yes	no	no	no	NA
ZBTB38	HGNC:26636	MGI:2442866	-	-	no	no	no	no	NA
ZBTB39	HGNC:29014	MGI:2443316	-	-	no	no	no	no	NA
ZBTB4	HGNC:23847	MGI:1922830	-	-	yes	no	no	no	NA
ZBTB40	HGNC:29045	MGI:2682254	-	-	no	no	no	no	NA
ZBTB41	HGNC:24819	MGI:2444487	-	-	yes	no	no	no	NA
ZBTB42	HGNC:32550	MGI:3644133	OMIM:616248	Lethal Congenital Contracture Syndrome 6	yes	yes	yes	no	NA
ZBTB43	HGNC:17908	MGI:1919084	-	-	yes	no	no	no	NA
ZBTB44	HGNC:25001	MGI:1925123	-	-	yes	no	no	no	NA
ZBTB45	HGNC:23715	MGI:2685003	-	-	yes	no	no	no	NA
ZBTB46	HGNC:16094	MGI:1919397	-	-	yes	no	no	no	NA
ZBTB47	HGNC:26955	MGI:2670992	-	-	no	no	no	no	NA
ZBTB48	HGNC:4930	MGI:2140248	-	-	yes	no	no	no	NA
ZBTB49	HGNC:19883	MGI:1922329	-	-	no	no	no	no	NA
ZBTB5	HGNC:23836	MGI:1924601	-	-	yes	no	no	no	NA
ZBTB6	HGNC:16764	MGI:2442998	-	-	no	no	no	no	NA
ZBTB7A	HGNC:18078	MGI:1335091	OMIM:619769	Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	no	no	no	no	NA
ZBTB7B	HGNC:18668	MGI:102755	-	-	no	no	no	no	NA
ZBTB7C	HGNC:31700	MGI:2443302	-	-	no	no	no	no	NA
ZBTB8A	HGNC:24172	MGI:1920930	-	-	no	no	no	no	NA
ZBTB8B	HGNC:37057	MGI:2387181	-	-	no	no	no	no	NA
ZBTB8OS	HGNC:24094	MGI:1914356	-	-	no	no	no	no	NA
ZBTB9	HGNC:28323	MGI:1918022	-	-	yes	no	no	no	NA
ZC2HC1A	HGNC:24277	MGI:1914556	-	-	yes	no	no	no	NA
ZC2HC1B	HGNC:21174	MGI:1922372	-	-	no	no	no	no	NA
ZC2HC1C	HGNC:20354	MGI:1919600	-	-	yes	no	no	no	NA
ZC3H10	HGNC:25893	MGI:2143670	-	-	no	no	no	no	NA
ZC3H11A	HGNC:29093	MGI:1917829	-	-	yes	no	no	no	NA
ZC3H12A	HGNC:26259	MGI:2385891	-	-	yes	no	no	no	NA
ZC3H12B	HGNC:17407	MGI:2442133	-	-	yes	no	no	no	NA
ZC3H12C	HGNC:29362	MGI:3026959	-	-	yes	no	no	no	NA
ZC3H12D	HGNC:21175	MGI:3045313	-	-	yes	no	no	no	NA
ZC3H13	HGNC:20368	MGI:1914552	-	-	yes	no	no	no	NA
ZC3H14	HGNC:20509	MGI:1919824	OMIM:617125|ORPHA:88616	Intellectual Developmental Disorder, Autosomal Recessive 56|Autosomal Recessive Non-Syndromic Intellectual Disability	yes	yes	yes	no	NA
ZC3H15	HGNC:29528	MGI:1919747	-	-	no	no	no	no	NA
ZC3H18	HGNC:25091	MGI:1923264	-	-	no	no	no	no	NA
ZC3H3	HGNC:28972	MGI:2663721	-	-	no	no	no	no	NA
ZC3H4	HGNC:17808	MGI:2682314	-	-	yes	no	no	no	NA
ZC3H6	HGNC:24762	MGI:1926001	-	-	no	no	no	no	NA
ZC3H7A	HGNC:30959	MGI:2445044	-	-	yes	no	no	no	NA
ZC3H7B	HGNC:30869	MGI:1328310	-	-	yes	no	no	no	NA
ZC3H8	HGNC:30941	MGI:1930128	-	-	yes	no	no	no	NA
ZC3HAV1	HGNC:23721	MGI:1926031	-	-	no	no	no	no	NA
ZC3HAV1L	HGNC:22423	MGI:2443387	-	-	yes	no	no	no	NA
ZC3HC1	HGNC:29913	MGI:1916023	-	-	yes	no	no	no	NA
ZC4H2	HGNC:24931	MGI:2679294	OMIM:314580|OMIM:301041|ORPHA:3454	Wieacker-Wolff Syndrome|Wieacker-Wolff Syndrome, Female-Restricted|Intellectual Disability-Developmental Delay-Contractures Syndrome	no	no	no	no	NA
ZCCHC10	HGNC:25954	MGI:1196228	-	-	no	no	no	no	NA
ZCCHC13	HGNC:31749	MGI:1922314	-	-	no	no	no	no	NA
ZCCHC14	HGNC:24134	MGI:2159407	-	-	yes	no	no	no	NA
ZCCHC17	HGNC:30246	MGI:1919955	-	-	yes	no	no	no	NA
ZCCHC2	HGNC:22916	MGI:2444114	-	-	yes	no	no	no	NA
ZCCHC24	HGNC:26911	MGI:1919168	-	-	no	no	no	no	NA
ZCCHC3	HGNC:16230	MGI:1915167	-	-	yes	no	no	no	NA
ZCCHC4	HGNC:22917	MGI:1926046	-	-	no	no	no	no	NA
ZCCHC7	HGNC:26209	MGI:2442912	-	-	no	no	no	no	NA
ZCCHC8	HGNC:25265	MGI:1917900	OMIM:618674	Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5	no	no	no	no	NA
ZCCHC9	HGNC:25424	MGI:1916335	-	-	no	no	no	no	NA
ZCRB1	HGNC:29620	MGI:1914447	-	-	no	no	no	no	NA
ZCWPW1	HGNC:23486	MGI:2685899	-	-	yes	no	no	no	NA
ZCWPW2	HGNC:23574	MGI:1921888	-	-	no	no	no	no	NA
ZDBF2	HGNC:29313	MGI:1921134	-	-	yes	no	no	no	NA
ZDHHC1	HGNC:17916	MGI:1918046	-	-	no	no	no	no	NA
ZDHHC12	HGNC:19159	MGI:1913470	-	-	no	no	no	no	NA
ZDHHC13	HGNC:18413	MGI:1919227	-	-	no	no	no	no	NA
ZDHHC14	HGNC:20341	MGI:2653229	-	-	yes	no	no	no	NA
ZDHHC15	HGNC:20342	MGI:1915336	-	-	no	no	no	no	NA
ZDHHC16	HGNC:20714	MGI:1921418	-	-	yes	no	no	no	NA
ZDHHC17	HGNC:18412	MGI:2445110	-	-	no	no	no	no	NA
ZDHHC18	HGNC:20712	MGI:3527792	-	-	no	no	no	no	NA
ZDHHC19	HGNC:20713	MGI:2682948	-	-	yes	no	no	no	NA
ZDHHC2	HGNC:18469	MGI:1923452	-	-	yes	no	no	no	NA
ZDHHC20	HGNC:20749	MGI:1923215	-	-	yes	no	no	no	NA
ZDHHC21	HGNC:20750	MGI:1915518	-	-	no	no	no	no	NA
ZDHHC22	HGNC:20106	MGI:2685108	-	-	yes	no	no	no	NA
ZDHHC23	HGNC:28654	MGI:2685625	-	-	yes	no	no	no	NA
ZDHHC24	HGNC:27387	MGI:1917855	-	-	yes	no	no	no	NA
ZDHHC3	HGNC:18470	MGI:1926134	-	-	yes	no	no	no	NA
ZDHHC4	HGNC:18471	MGI:1920131	-	-	no	no	no	no	NA
ZDHHC5	HGNC:18472	MGI:1923573	-	-	yes	no	no	no	NA
ZDHHC6	HGNC:19160	MGI:1914230	-	-	no	no	no	no	NA
ZDHHC7	HGNC:18459	MGI:2142662	-	-	no	no	no	no	NA
ZDHHC8	HGNC:18474	MGI:1338012	-	-	no	no	no	no	NA
ZDHHC9	HGNC:18475	MGI:2444393	OMIM:300799|ORPHA:776	Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond Type|Lujan-Fryns Syndrome	no	no	no	no	NA
ZEB1	HGNC:11642	MGI:1344313	OMIM:613270|OMIM:609141|ORPHA:98973|ORPHA:98974	Corneal Dystrophy, Fuchs Endothelial, 6|Corneal Dystrophy, Posterior Polymorphous, 3|Posterior Polymorphous Corneal Dystrophy|Fuchs Endothelial Corneal Dystrophy	no	no	no	no	NA
ZEB2	HGNC:14881	MGI:1344407	OMIM:235730|ORPHA:261537|ORPHA:261552	Mowat-Wilson Syndrome|Mowat-Wilson Syndrome Due To Monosomy 2Q22|Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	no	no	no	no	NA
ZER1	HGNC:30960	MGI:2442511	-	-	yes	no	no	no	NA
ZFAND1	HGNC:25858	MGI:1913611	-	-	no	no	no	no	NA
ZFAND2A	HGNC:28073	MGI:2140729	-	-	no	no	no	no	NA
ZFAND2B	HGNC:25206	MGI:1916068	-	-	no	no	no	no	NA
ZFAND3	HGNC:18019	MGI:1096572	-	-	yes	no	no	no	NA
ZFAND4	HGNC:23504	MGI:1914742	-	-	no	no	no	no	NA
ZFAND5	HGNC:13008	MGI:1278334	-	-	no	no	no	no	NA
ZFAND6	HGNC:30164	MGI:1929510	-	-	yes	no	no	no	NA
ZFAT	HGNC:19899	MGI:2681865	OMIM:608175	Autoimmune Thyroid Disease, Susceptibility To, 3	yes	yes	yes	no	NA
ZFC3H1	HGNC:28328	MGI:2446143	-	-	yes	no	no	no	NA
ZFHX2	HGNC:20152	MGI:2686934	OMIM:147430	Marsili Syndrome	yes	yes	yes	no	NA
ZFHX3	HGNC:777	MGI:99948	OMIM:176807	Prostate Cancer	no	no	no	no	NA
ZFHX4	HGNC:30939	MGI:2137668	OMIM:178300|ORPHA:91411	Ptosis, Hereditary Congenital 1|Congenital Ptosis	yes	yes	yes	no	NA
ZFP1	HGNC:23328	MGI:99154	-	-	no	no	no	no	NA
ZFP14	HGNC:29312	MGI:99160	-	-	yes	no	no	no	NA
ZFP2	HGNC:26138	MGI:99167	-	-	no	no	no	no	NA
ZFP28	HGNC:17801	MGI:99175	-	-	yes	no	no	no	NA
ZFP3	HGNC:12861	MGI:99177	-	-	no	no	no	no	NA
ZFP30	HGNC:29555	MGI:99178	-	-	yes	no	no	no	NA
ZFP36	HGNC:12862	MGI:99180	-	-	yes	no	no	no	NA
ZFP36L1	HGNC:1107	MGI:107946	-	-	no	no	no	no	NA
ZFP36L2	HGNC:1108	MGI:107945	OMIM:620154|ORPHA:400025	Oocyte/Zygote/Embryo Maturation Arrest 13|Female Infertility Due To An Implantation Defect Of Genetic Origin	no	no	no	no	NA
ZFP37	HGNC:12863	MGI:99181	-	-	no	no	no	no	NA
ZFP41	HGNC:26786	MGI:99186	-	-	no	no	no	no	NA
ZFP42	HGNC:30949	MGI:99187	-	-	yes	no	no	no	NA
ZFP57	HGNC:18791	MGI:99204	OMIM:601410|ORPHA:99886	Diabetes Mellitus, Transient Neonatal, 1|Transient Neonatal Diabetes Mellitus	no	no	no	no	NA
ZFP62	HGNC:23241	MGI:99662	-	-	no	no	no	no	NA
ZFP64	HGNC:15940	MGI:107342	-	-	no	no	no	no	NA
ZFP69	HGNC:24708	MGI:107794	-	-	yes	no	no	no	NA
ZFP82	HGNC:28682	MGI:1890753	-	-	no	no	no	no	NA
ZFP90	HGNC:23329	MGI:104786	-	-	yes	no	no	no	NA
ZFP91	HGNC:14983	MGI:104854	-	-	yes	no	no	no	NA
ZFP92	HGNC:12865	MGI:108094	-	-	yes	no	no	no	NA
ZFPL1	HGNC:12868	MGI:1891017	-	-	yes	no	no	no	NA
ZFPM1	HGNC:19762	MGI:1095400	-	-	no	no	no	no	NA
ZFPM2	HGNC:16700	MGI:1334444	OMIM:616067|OMIM:610187|OMIM:187500|ORPHA:2140|ORPHA:3303|ORPHA:251510	46,Xy Sex Reversal 9|Diaphragmatic Hernia 3|Tetralogy Of Fallot|Congenital Diaphragmatic Hernia|46,Xy Partial Gonadal Dysgenesis	no	no	no	no	NA
ZFR	HGNC:17277	MGI:1341890	ORPHA:401840	Autosomal Recessive Spastic Paraplegia Type 71	no	no	no	no	NA
ZFR2	HGNC:29189	MGI:2143792	-	-	no	no	no	no	NA
ZFTA	HGNC:28449	MGI:1919667	ORPHA:251636|ORPHA:530792	Ependymoma|Rela Fusion-Positive Ependymoma	no	no	no	no	NA
ZFTRAF1	HGNC:17806	MGI:1859320	-	-	yes	no	no	no	NA
ZFX	HGNC:12869	MGI:99211	-	-	no	no	no	no	NA
ZFYVE1	HGNC:13180	MGI:3026685	-	-	yes	no	no	no	NA
ZFYVE16	HGNC:20756	MGI:2145181	-	-	no	no	no	no	NA
ZFYVE19	HGNC:20758	MGI:1919258	OMIM:619849	Cholestasis, Progressive Familial Intrahepatic, 9	yes	yes	yes	no	NA
ZFYVE21	HGNC:20760	MGI:1915770	-	-	yes	no	no	no	NA
ZFYVE26	HGNC:20761	MGI:1924767	OMIM:270700|ORPHA:100996	Spastic Paraplegia 15, Autosomal Recessive|Autosomal Recessive Spastic Paraplegia Type 15	yes	yes	yes	yes	40.56
ZFYVE27	HGNC:26559	MGI:1919602	OMIM:610244	Spastic Paraplegia 33, Autosomal Dominant	yes	no	yes	no	NA
ZFYVE28	HGNC:29334	MGI:2684992	-	-	yes	no	no	no	NA
ZFYVE9	HGNC:6775	MGI:2652838	-	-	no	no	no	no	NA
ZG16	HGNC:30961	MGI:1916286	-	-	yes	no	no	no	NA
ZGLP1	HGNC:37245	MGI:3696042	-	-	no	no	no	no	NA
ZGPAT	HGNC:15948	MGI:2449939	-	-	yes	no	no	no	NA
ZGRF1	HGNC:25654	MGI:1918893	-	-	yes	no	no	no	NA
ZHX1	HGNC:12871	MGI:109271	-	-	yes	no	no	no	NA
ZHX2	HGNC:18513	MGI:2683087	-	-	no	no	no	no	NA
ZHX3	HGNC:15935	MGI:2444772	-	-	yes	no	no	no	NA
ZIC1	HGNC:12872	MGI:106683	OMIM:616602|OMIM:618736|ORPHA:269215|ORPHA:269212|ORPHA:35099	Craniosynostosis 6|Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis|Isolated Dandy-Walker Malformation Without Hydrocephalus|Isolated Dandy-Walker Malformation With Hydrocephalus|Non-Syndromic Bicoronal Craniosynostosis	no	no	no	no	NA
ZIC2	HGNC:12873	MGI:106679	OMIM:609637|ORPHA:280200|ORPHA:280195|ORPHA:220386|ORPHA:93926|ORPHA:93924|ORPHA:93925	Holoprosencephaly 5|Microform Holoprosencephaly|Septopreoptic Holoprosencephaly|Semilobar Holoprosencephaly|Midline Interhemispheric Variant Of Holoprosencephaly|Lobar Holoprosencephaly|Alobar Holoprosencephaly	no	no	no	no	NA
ZIC3	HGNC:12874	MGI:106676	OMIM:306955|OMIM:314390|ORPHA:157769|ORPHA:216718	Heterotaxy, Visceral, 1, X-Linked|Vacterl Association, X-Linked, With Or Without Hydrocephalus|Situs Ambiguus|Isolated Congenitally Uncorrected Transposition Of The Great Arteries	no	no	no	no	NA
ZIC4	HGNC:20393	MGI:107201	ORPHA:269215|ORPHA:269212	Isolated Dandy-Walker Malformation Without Hydrocephalus|Isolated Dandy-Walker Malformation With Hydrocephalus	yes	no	no	no	NA
ZIC5	HGNC:20322	MGI:1929518	-	-	no	no	no	no	NA
ZIK1	HGNC:33104	MGI:108070	-	-	no	no	no	no	NA
ZKSCAN1	HGNC:13101	MGI:1921820	-	-	no	no	no	no	NA
ZKSCAN2	HGNC:25677	MGI:2444060	-	-	yes	no	no	no	NA
ZKSCAN5	HGNC:12867	MGI:107533	-	-	no	no	no	no	NA
ZKSCAN8	HGNC:12983	MGI:1913815	-	-	no	no	no	no	NA
ZMAT1	HGNC:29377	MGI:2442284	-	-	no	no	no	no	NA
ZMAT2	HGNC:26433	MGI:1913742	-	-	no	no	no	no	NA
ZMAT3	HGNC:29983	MGI:1195270	-	-	no	no	no	no	NA
ZMAT4	HGNC:25844	MGI:2443497	-	-	yes	no	no	no	NA
ZMAT5	HGNC:28046	MGI:1914428	-	-	yes	no	no	no	NA
ZMIZ1	HGNC:16493	MGI:3040693	OMIM:618659|ORPHA:528084	Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies|Non-Specific Syndromic Intellectual Disability	no	no	no	no	NA
ZMIZ2	HGNC:22229	MGI:106374	-	-	yes	no	no	no	NA
ZMPSTE24	HGNC:12877	MGI:1890508	OMIM:608612|OMIM:275210|ORPHA:1662|ORPHA:740|ORPHA:90154	Mandibuloacral Dysplasia With Type B Lipodystrophy|Restrictive Dermopathy 1|Restrictive Dermopathy|Hutchinson-Gilford Progeria Syndrome	no	no	no	no	NA
ZMYM1	HGNC:26253	MGI:1915560	-	-	no	no	no	no	NA
ZMYM2	HGNC:12989	MGI:1923257	OMIM:619522|ORPHA:528084	Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities|Non-Specific Syndromic Intellectual Disability	yes	yes	yes	yes	34.745
ZMYM3	HGNC:13054	MGI:1927231	OMIM:301111	Intellectual Developmental Disorder, X-Linked 112	no	no	no	no	NA
ZMYM4	HGNC:13055	MGI:1915035	-	-	yes	no	no	no	NA
ZMYM5	HGNC:13029	MGI:3041170	-	-	no	no	no	no	NA
ZMYM6	HGNC:13050	MGI:106505	-	-	yes	no	no	no	NA
ZMYND10	HGNC:19412	MGI:2387863	OMIM:615444|ORPHA:244	Ciliary Dyskinesia, Primary, 22|Primary Ciliary Dyskinesia	yes	no	yes	no	NA
ZMYND11	HGNC:16966	MGI:1913755	OMIM:616083|ORPHA:178469	Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities|Autosomal Dominant Non-Syndromic Intellectual Disability	yes	yes	yes	no	NA
ZMYND12	HGNC:21192	MGI:2140259	-	-	yes	no	no	no	NA
ZMYND15	HGNC:20997	MGI:3603821	OMIM:615842|ORPHA:399805	Spermatogenic Failure 14|Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	yes	no	yes	no	NA
ZMYND19	HGNC:21146	MGI:1914437	-	-	yes	no	no	no	NA
ZMYND8	HGNC:9397	MGI:1918025	-	-	yes	no	no	no	NA
ZNF106	HGNC:12886	MGI:1270153	-	-	yes	no	no	no	NA
ZNF112	HGNC:12892	MGI:1929115	-	-	no	no	no	no	NA
ZNF12	HGNC:12902	MGI:99157	-	-	no	no	no	no	NA
ZNF131	HGNC:12915	MGI:1919715	-	-	no	no	no	no	NA
ZNF142	HGNC:12927	MGI:1924514	OMIM:618425	Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	yes	yes	yes	no	NA
ZNF143	HGNC:12928	MGI:1277969	-	-	no	no	no	no	NA
ZNF146	HGNC:12931	MGI:1347092	-	-	yes	no	no	no	NA
ZNF148	HGNC:12933	MGI:1332234	OMIM:617260	Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	yes	yes	yes	yes	19.09
ZNF169	HGNC:12957	MGI:1915161	-	-	no	no	no	no	NA
ZNF174	HGNC:12963	MGI:2686600	-	-	yes	no	no	no	NA
ZNF18	HGNC:12969	MGI:1289293	-	-	no	no	no	no	NA
ZNF180	HGNC:12970	MGI:1923701	-	-	no	no	no	no	NA
ZNF182	HGNC:13001	MGI:2442220	-	-	yes	no	no	no	NA
ZNF184	HGNC:12975	MGI:1922244	-	-	yes	no	no	no	NA
ZNF185	HGNC:12976	MGI:108095	-	-	no	no	no	no	NA
ZNF189	HGNC:12980	MGI:2444707	-	-	yes	no	no	no	NA
ZNF2	HGNC:12991	MGI:1919430	-	-	no	no	no	no	NA
ZNF202	HGNC:12994	MGI:1933401	-	-	yes	no	no	no	NA
ZNF205	HGNC:12996	MGI:99159	-	-	yes	no	no	no	NA
ZNF207	HGNC:12998	MGI:1340045	-	-	yes	no	no	no	NA
ZNF212	HGNC:13004	MGI:2682609	-	-	yes	no	no	no	NA
ZNF213	HGNC:13005	MGI:3053094	-	-	no	no	no	no	NA
ZNF217	HGNC:13009	MGI:2685408	-	-	no	no	no	no	NA
ZNF219	HGNC:13011	MGI:1917140	-	-	yes	no	no	no	NA
ZNF22	HGNC:13012	MGI:1914505	-	-	yes	no	no	no	NA
ZNF23	HGNC:13023	MGI:2443465	-	-	yes	no	no	no	NA
ZNF236	HGNC:13028	MGI:1926950	-	-	yes	no	no	no	NA
ZNF239	HGNC:13031	MGI:1306812	-	-	yes	no	no	no	NA
ZNF24	HGNC:13032	MGI:1929704	-	-	no	no	no	no	NA
ZNF248	HGNC:13041	MGI:1919970	-	-	no	no	no	no	NA
ZNF25	HGNC:13043	MGI:99210	-	-	no	no	no	no	NA
ZNF250	HGNC:13044	MGI:3052806	-	-	no	no	no	no	NA
ZNF251	HGNC:13045	MGI:1918841	-	-	no	no	no	no	NA
ZNF260	HGNC:13499	MGI:1347071	-	-	yes	no	no	no	NA
ZNF263	HGNC:13056	MGI:1921370	-	-	yes	no	no	no	NA
ZNF275	HGNC:13069	MGI:1350985	-	-	yes	no	no	no	NA
ZNF276	HGNC:23330	MGI:1888495	-	-	no	no	no	no	NA
ZNF277	HGNC:13070	MGI:1890393	-	-	no	no	no	no	NA
ZNF280B	HGNC:23022	MGI:1927865	-	-	no	no	no	no	NA
ZNF280C	HGNC:25955	MGI:2387585	-	-	no	no	no	no	NA
ZNF280D	HGNC:25953	MGI:2384583	-	-	yes	no	no	no	NA
ZNF281	HGNC:13075	MGI:3029290	-	-	yes	no	no	no	NA
ZNF282	HGNC:13076	MGI:2141413	-	-	no	no	no	no	NA
ZNF286A	HGNC:13501	MGI:2384758	-	-	yes	no	no	no	NA
ZNF287	HGNC:13502	MGI:2176561	-	-	yes	no	no	no	NA
ZNF292	HGNC:18410	MGI:1353423	OMIM:619188	Intellectual Developmental Disorder, Autosomal Dominant 64	no	no	no	no	NA
ZNF296	HGNC:15981	MGI:1926956	-	-	no	no	no	no	NA
ZNF3	HGNC:13089	MGI:1929116	-	-	yes	no	no	no	NA
ZNF316	HGNC:13843	MGI:1860402	-	-	no	no	no	no	NA
ZNF317	HGNC:13507	MGI:107775	-	-	no	no	no	no	NA
ZNF318	HGNC:13578	MGI:1889348	-	-	no	no	no	no	NA
ZNF319	HGNC:13644	MGI:1890618	-	-	no	no	no	no	NA
ZNF32	HGNC:13095	MGI:2448537	-	-	yes	no	no	no	NA
ZNF322	HGNC:23640	MGI:2442566	-	-	no	no	no	no	NA
ZNF326	HGNC:14104	MGI:1927246	-	-	no	no	no	no	NA
ZNF329	HGNC:14209	MGI:1921283	-	-	yes	no	no	no	NA
ZNF330	HGNC:15462	MGI:1353574	-	-	no	no	no	no	NA
ZNF334	HGNC:15806	MGI:2388656	-	-	yes	no	no	no	NA
ZNF335	HGNC:15807	MGI:2682313	OMIM:615095|ORPHA:329228	Microcephaly 10, Primary, Autosomal Recessive|Microcephalic Primordial Dwarfism Due To Znf335 Deficiency	no	no	no	no	NA
ZNF341	HGNC:15992	MGI:2682937	OMIM:618282|ORPHA:641368	Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections|Autosomal Recessive Hyper-Ige Syndrome	yes	yes	yes	no	NA
ZNF346	HGNC:16403	MGI:1349417	-	-	yes	no	no	no	NA
ZNF35	HGNC:13099	MGI:1277119	-	-	no	no	no	no	NA
ZNF354A	HGNC:11628	MGI:103172	-	-	yes	no	no	no	NA
ZNF354B	HGNC:17197	MGI:1351476	-	-	no	no	no	no	NA
ZNF354C	HGNC:16736	MGI:1353621	-	-	no	no	no	no	NA
ZNF358	HGNC:16838	MGI:2153740	-	-	no	no	no	no	NA
ZNF362	HGNC:18079	MGI:2652839	-	-	no	no	no	no	NA
ZNF365	HGNC:18194	MGI:2143676	OMIM:605990|ORPHA:2073|ORPHA:83465	Nephrolithiasis, Uric Acid, Susceptibility To|Narcolepsy Type 1|Narcolepsy Type 2	yes	no	yes	no	NA
ZNF366	HGNC:18316	MGI:2178429	-	-	no	no	no	no	NA
ZNF367	HGNC:18320	MGI:2442266	-	-	yes	no	no	no	NA
ZNF382	HGNC:17409	MGI:3588204	-	-	no	no	no	no	NA
ZNF383	HGNC:18609	MGI:1920979	-	-	yes	no	no	no	NA
ZNF384	HGNC:11955	MGI:2443203	-	-	no	no	no	no	NA
ZNF385A	HGNC:17521	MGI:1352495	-	-	no	no	no	no	NA
ZNF385B	HGNC:26332	MGI:2444734	-	-	yes	no	no	no	NA
ZNF385C	HGNC:33722	MGI:3608347	-	-	no	no	no	no	NA
ZNF394	HGNC:18832	MGI:1914485	-	-	yes	no	no	no	NA
ZNF395	HGNC:18737	MGI:2682318	-	-	yes	no	no	no	NA
ZNF397	HGNC:18818	MGI:1916506	-	-	no	no	no	no	NA
ZNF398	HGNC:18373	MGI:1917856	-	-	yes	no	no	no	NA
ZNF407	HGNC:19904	MGI:2685179	OMIM:619557	Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	yes	yes	yes	no	NA
ZNF408	HGNC:20041	MGI:2685857	OMIM:616468|OMIM:616469|ORPHA:791|ORPHA:891	Exudative Vitreoretinopathy 6|Retinitis Pigmentosa 72|Retinitis Pigmentosa|Familial Exudative Vitreoretinopathy	yes	no	yes	no	NA
ZNF410	HGNC:20144	MGI:1289280	-	-	no	no	no	no	NA
ZNF414	HGNC:20630	MGI:1915641	-	-	yes	no	no	no	NA
ZNF420	HGNC:20649	MGI:2444666	-	-	yes	no	no	no	NA
ZNF423	HGNC:16762	MGI:1891217	OMIM:614844|ORPHA:2318|ORPHA:93591	Nephronophthisis 14|Joubert Syndrome With Oculorenal Defect|Infantile Nephronophthisis	yes	yes	yes	yes	29.665
ZNF426	HGNC:20725	MGI:1920248	-	-	no	no	no	no	NA
ZNF428	HGNC:20804	MGI:1916463	-	-	no	no	no	no	NA
ZNF436	HGNC:20814	MGI:99192	-	-	no	no	no	no	NA
ZNF438	HGNC:21029	MGI:2444919	-	-	yes	no	no	no	NA
ZNF444	HGNC:16052	MGI:1923365	-	-	no	no	no	no	NA
ZNF445	HGNC:21018	MGI:2143340	-	-	yes	no	no	no	NA
ZNF446	HGNC:21036	MGI:2442185	-	-	no	no	no	no	NA
ZNF449	HGNC:21039	MGI:1925869	-	-	no	no	no	no	NA
ZNF45	HGNC:13111	MGI:107610	-	-	no	no	no	no	NA
ZNF451	HGNC:21091	MGI:2137896	-	-	yes	no	no	no	NA
ZNF454	HGNC:21200	MGI:2679253	-	-	no	no	no	no	NA
ZNF462	HGNC:21684	MGI:107690	OMIM:618619|ORPHA:502430	Weiss-Kruszka Syndrome|Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome	yes	yes	yes	no	NA
ZNF467	HGNC:23154	MGI:1916160	-	-	no	no	no	no	NA
ZNF469	HGNC:23216	MGI:2684868	OMIM:229200|ORPHA:90354	Brittle Cornea Syndrome 1|Brittle Cornea Syndrome	yes	yes	yes	yes	34.465
ZNF471	HGNC:23226	MGI:107783	-	-	no	no	no	no	NA
ZNF473	HGNC:23239	MGI:2442697	-	-	no	no	no	no	NA
ZNF474	HGNC:23245	MGI:1914008	-	-	yes	no	no	no	NA
ZNF475	HGNC:53564	MGI:1925664	-	-	yes	no	no	no	NA
ZNF48	HGNC:13114	MGI:2384725	-	-	no	no	no	no	NA
ZNF483	HGNC:23384	MGI:3510405	-	-	no	no	no	no	NA
ZNF488	HGNC:23535	MGI:2686052	-	-	yes	no	no	no	NA
ZNF496	HGNC:23713	MGI:2679270	-	-	yes	no	no	no	NA
ZNF503	HGNC:23589	MGI:1353644	-	-	yes	no	no	no	NA
ZNF507	HGNC:23783	MGI:1916378	-	-	yes	no	no	no	NA
ZNF511	HGNC:28445	MGI:1917002	-	-	no	no	no	no	NA
ZNF512	HGNC:29380	MGI:1917345	-	-	yes	no	no	no	NA
ZNF512B	HGNC:29212	MGI:2685478	-	-	yes	no	no	no	NA
ZNF513	HGNC:26498	MGI:2141255	OMIM:613617|ORPHA:791	Retinitis Pigmentosa 58|Retinitis Pigmentosa	yes	yes	yes	yes	30.695
ZNF516	HGNC:28990	MGI:2443957	-	-	no	no	no	no	NA
ZNF518A	HGNC:29009	MGI:1919922	-	-	no	no	no	no	NA
ZNF518B	HGNC:29365	MGI:2140750	-	-	no	no	no	no	NA
ZNF521	HGNC:24605	MGI:95459	-	-	no	no	no	no	NA
ZNF524	HGNC:28322	MGI:1916740	-	-	no	no	no	no	NA
ZNF526	HGNC:29415	MGI:2445181	OMIM:619877|ORPHA:528084	Dentici-Novelli Neurodevelopmental Syndrome|Non-Specific Syndromic Intellectual Disability	no	no	no	no	NA
ZNF532	HGNC:30940	MGI:3036282	-	-	yes	no	no	no	NA
ZNF536	HGNC:29025	MGI:1926102	-	-	yes	no	no	no	NA
ZNF541	HGNC:25294	MGI:3647699	-	-	yes	no	no	no	NA
ZNF551	HGNC:25108	MGI:3588205	-	-	yes	no	no	no	NA
ZNF558	HGNC:26422	MGI:1921681	-	-	yes	no	no	no	NA
ZNF566	HGNC:25919	MGI:1919806	-	-	no	no	no	no	NA
ZNF569	HGNC:24737	MGI:107784	-	-	yes	no	no	no	NA
ZNF574	HGNC:26166	MGI:2442951	-	-	no	no	no	no	NA
ZNF575	HGNC:27606	MGI:2141921	-	-	no	no	no	no	NA
ZNF579	HGNC:26646	MGI:1915740	-	-	yes	no	no	no	NA
ZNF580	HGNC:29473	MGI:1916242	-	-	yes	no	no	no	NA
ZNF583	HGNC:26427	MGI:2682297	-	-	no	no	no	no	NA
ZNF592	HGNC:28986	MGI:2443541	ORPHA:83472	Camos Syndrome	no	no	no	no	NA
ZNF593	HGNC:30943	MGI:1915290	-	-	yes	no	no	no	NA
ZNF597	HGNC:26573	MGI:1918313	-	-	yes	no	no	no	NA
ZNF598	HGNC:28079	MGI:2670965	-	-	no	no	no	no	NA
ZNF605	HGNC:28068	MGI:2444933	-	-	no	no	no	no	NA
ZNF606	HGNC:25879	MGI:1914620	-	-	no	no	no	no	NA
ZNF608	HGNC:29238	MGI:2442338	-	-	no	no	no	no	NA
ZNF609	HGNC:29003	MGI:2674092	-	-	yes	no	no	no	NA
ZNF618	HGNC:29416	MGI:1919950	-	-	no	no	no	no	NA
ZNF622	HGNC:30958	MGI:1289282	-	-	yes	no	no	no	NA
ZNF623	HGNC:29084	MGI:1926084	-	-	no	no	no	no	NA
ZNF628	HGNC:28054	MGI:2665174	-	-	yes	no	no	no	NA
ZNF629	HGNC:29008	MGI:2444524	-	-	yes	no	no	no	NA
ZNF638	HGNC:17894	MGI:1203484	-	-	yes	no	no	no	NA
ZNF639	HGNC:30950	MGI:1915028	-	-	no	no	no	no	NA
ZNF641	HGNC:31834	MGI:2442788	-	-	yes	no	no	no	NA
ZNF644	HGNC:29222	MGI:1277212	OMIM:614167	Myopia 21, Autosomal Dominant	yes	yes	yes	no	NA
ZNF646	HGNC:29004	MGI:3665412	-	-	no	no	no	no	NA
ZNF648	HGNC:18190	MGI:2685049	-	-	no	no	no	no	NA
ZNF652	HGNC:29147	MGI:2442221	-	-	yes	no	no	no	NA
ZNF653	HGNC:25196	MGI:2442362	-	-	no	no	no	no	NA
ZNF654	HGNC:25612	MGI:1919270	-	-	yes	no	no	no	NA
ZNF655	HGNC:30899	MGI:1919861	-	-	no	no	no	no	NA
ZNF664	HGNC:25406	MGI:2442505	-	-	yes	no	no	no	NA
ZNF667	HGNC:28854	MGI:2442757	-	-	no	no	no	no	NA
ZNF668	HGNC:25821	MGI:2442943	OMIM:620194	Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	no	no	no	no	NA
ZNF672	HGNC:26179	MGI:2442105	-	-	no	no	no	no	NA
ZNF683	HGNC:28495	MGI:3650254	-	-	no	no	no	no	NA
ZNF687	HGNC:29277	MGI:1925516	OMIM:616833|ORPHA:280110	Paget Disease Of Bone 6|Non Rare In Europe: Paget Disease Of Bone	yes	yes	yes	no	NA
ZNF688	HGNC:30489	MGI:1916484	-	-	no	no	no	no	NA
ZNF689	HGNC:25173	MGI:1918381	-	-	yes	no	no	no	NA
ZNF691	HGNC:28028	MGI:3041163	-	-	yes	no	no	no	NA
ZNF692	HGNC:26049	MGI:2144276	-	-	yes	no	no	no	NA
ZNF697	HGNC:32034	MGI:2139736	-	-	yes	no	no	no	NA
ZNF7	HGNC:13139	MGI:99208	-	-	yes	no	no	no	NA
ZNF703	HGNC:25883	MGI:2662729	-	-	no	no	no	no	NA
ZNF704	HGNC:32291	MGI:2180715	-	-	yes	no	no	no	NA
ZNF706	HGNC:24992	MGI:1915286	-	-	yes	no	no	no	NA
ZNF707	HGNC:27815	MGI:1916270	-	-	no	no	no	no	NA
ZNF710	HGNC:25352	MGI:1921747	-	-	no	no	no	no	NA
ZNF711	HGNC:13128	MGI:3045342	OMIM:300803|ORPHA:777	Intellectual Developmental Disorder, X-Linked 97|X-Linked Non-Syndromic Intellectual Disability	yes	yes	yes	no	NA
ZNF740	HGNC:27465	MGI:1915994	-	-	no	no	no	no	NA
ZNF746	HGNC:21948	MGI:1916478	-	-	yes	no	no	no	NA
ZNF750	HGNC:25843	MGI:2442210	OMIM:610227|ORPHA:168606	Seborrhea-Like Dermatitis With Psoriasiform Elements	yes	yes	yes	no	NA
ZNF76	HGNC:13149	MGI:2687278	-	-	no	no	no	no	NA
ZNF768	HGNC:26273	MGI:2384582	-	-	no	no	no	no	NA
ZNF770	HGNC:26061	MGI:2445100	-	-	no	no	no	no	NA
ZNF771	HGNC:29653	MGI:2442050	-	-	no	no	no	no	NA
ZNF775	HGNC:28501	MGI:2683557	-	-	no	no	no	no	NA
ZNF777	HGNC:22213	MGI:1919556	-	-	no	no	no	no	NA
ZNF778	HGNC:26479	MGI:99173	-	-	no	no	no	no	NA
ZNF780B	HGNC:33109	MGI:2444764	-	-	yes	no	no	no	NA
ZNF784	HGNC:33111	MGI:3606042	-	-	no	no	no	no	NA
ZNF786	HGNC:21806	MGI:3026883	-	-	yes	no	no	no	NA
ZNF787	HGNC:26998	MGI:1914359	-	-	yes	no	no	no	NA
ZNF791	HGNC:26895	MGI:3648473	-	-	yes	no	no	no	NA
ZNF8	HGNC:13154	MGI:2389445	-	-	no	no	no	no	NA
ZNF800	HGNC:27267	MGI:1889334	-	-	no	no	no	no	NA
ZNF804A	HGNC:21711	MGI:2442949	-	-	yes	no	no	no	NA
ZNF804B	HGNC:21958	MGI:2685287	-	-	no	no	no	no	NA
ZNF821	HGNC:28043	MGI:1923121	-	-	yes	no	no	no	NA
ZNF827	HGNC:27193	MGI:2444807	-	-	yes	no	no	no	NA
ZNF830	HGNC:28291	MGI:1914233	-	-	yes	no	no	no	NA
ZNF831	HGNC:16167	MGI:3641861	-	-	yes	no	no	no	NA
ZNF839	HGNC:20345	MGI:1920055	-	-	no	no	no	no	NA
ZNF853	HGNC:21767	MGI:2685638	-	-	no	no	no	no	NA
ZNF865	HGNC:38705	MGI:2442656	-	-	no	no	no	no	NA
ZNF879	HGNC:37273	MGI:3053099	-	-	yes	no	no	no	NA
ZNFX1	HGNC:29271	MGI:2138982	OMIM:619644	Immunodeficiency 91 And Hyperinflammation	yes	yes	yes	no	NA
ZNHIT1	HGNC:21688	MGI:1917353	-	-	yes	no	no	no	NA
ZNHIT2	HGNC:1177	MGI:1352481	-	-	yes	no	no	no	NA
ZNHIT3	HGNC:12309	MGI:3051596	OMIM:260565|ORPHA:2836	Peho Syndrome	no	no	no	no	NA
ZNHIT6	HGNC:26089	MGI:1916996	-	-	yes	no	no	no	NA
ZNRD2	HGNC:11328	MGI:1913482	-	-	no	no	no	no	NA
ZNRF1	HGNC:18452	MGI:2177308	-	-	no	no	no	no	NA
ZNRF2	HGNC:22316	MGI:1196246	-	-	yes	no	no	no	NA
ZNRF3	HGNC:18126	MGI:3039616	ORPHA:1501	Adrenocortical Carcinoma	no	no	no	no	NA
ZNRF4	HGNC:17726	MGI:1341258	-	-	no	no	no	no	NA
ZP1	HGNC:13187	MGI:103073	OMIM:615774|ORPHA:404466	Oocyte/Zygote/Embryo Maturation Arrest 1|Female Infertility Due To Zona Pellucida Defect	yes	no	yes	no	NA
ZP2	HGNC:13188	MGI:99214	OMIM:618353|ORPHA:404466	Oocyte/Zygote/Embryo Maturation Arrest 6|Female Infertility Due To Zona Pellucida Defect	no	no	no	no	NA
ZP3	HGNC:13189	MGI:99215	OMIM:617712|ORPHA:404466	Oocyte/Zygote/Embryo Maturation Arrest 3|Female Infertility Due To Zona Pellucida Defect	no	no	no	no	NA
ZPBP	HGNC:15662	MGI:1855701	OMIM:619799|ORPHA:171709	Spermatogenic Failure 66|Male Infertility Due To Globozoospermia	no	no	no	no	NA
ZPBP2	HGNC:20678	MGI:1916626	-	-	yes	no	no	no	NA
ZPLD1	HGNC:27022	MGI:2443415	-	-	yes	no	no	no	NA
ZPR1	HGNC:13051	MGI:1330262	OMIM:619321	Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	no	no	no	no	NA
ZRANB1	HGNC:18224	MGI:106441	-	-	yes	no	no	no	NA
ZRANB2	HGNC:13058	MGI:1858211	-	-	yes	no	no	no	NA
ZRANB3	HGNC:25249	MGI:1918362	-	-	yes	no	no	no	NA
ZRSR2	HGNC:23019	MGI:103287	-	-	yes	no	no	no	NA
ZSCAN10	HGNC:12997	MGI:3040700	-	-	yes	no	no	no	NA
ZSCAN12	HGNC:13172	MGI:1099444	-	-	yes	no	no	no	NA
ZSCAN18	HGNC:21037	MGI:3643810	-	-	no	no	no	no	NA
ZSCAN2	HGNC:20994	MGI:99176	-	-	yes	no	no	no	NA
ZSCAN20	HGNC:13093	MGI:2679268	-	-	no	no	no	no	NA
ZSCAN21	HGNC:13104	MGI:99182	-	-	yes	no	no	no	NA
ZSCAN22	HGNC:4929	MGI:2443312	-	-	no	no	no	no	NA
ZSCAN25	HGNC:21961	MGI:3647079	-	-	no	no	no	no	NA
ZSCAN26	HGNC:12978	MGI:3531417	-	-	no	no	no	no	NA
ZSCAN29	HGNC:26673	MGI:2139317	-	-	no	no	no	no	NA
ZSWIM1	HGNC:16155	MGI:1919221	-	-	yes	no	no	no	NA
ZSWIM2	HGNC:30990	MGI:1919111	-	-	no	no	no	no	NA
ZSWIM3	HGNC:16157	MGI:1914788	-	-	no	no	no	no	NA
ZSWIM4	HGNC:25704	MGI:2443726	-	-	no	no	no	no	NA
ZSWIM5	HGNC:29299	MGI:1921714	-	-	yes	no	no	no	NA
ZSWIM6	HGNC:29316	MGI:1914513	OMIM:603671|OMIM:617865|ORPHA:1827	Acromelic Frontonasal Dysostosis|Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features|Acromelic Frontonasal Dysplasia	yes	yes	yes	yes	40.465
ZSWIM7	HGNC:26993	MGI:1916997	OMIM:619834|OMIM:619831|ORPHA:243	Ovarian Dysgenesis 10|Spermatogenic Failure 71|46,Xx Gonadal Dysgenesis	no	no	no	no	NA
ZSWIM8	HGNC:23528	MGI:1919156	-	-	no	no	no	no	NA
ZSWIM9	HGNC:34495	MGI:2447816	-	-	no	no	no	no	NA
ZUP1	HGNC:21224	MGI:1919830	-	-	no	no	no	no	NA
ZW10	HGNC:13194	MGI:1349478	-	-	no	no	no	no	NA
ZWILCH	HGNC:25468	MGI:1915264	-	-	yes	no	no	no	NA
ZWINT	HGNC:13195	MGI:1289227	-	-	yes	no	no	no	NA
ZXDC	HGNC:28160	MGI:1933108	-	-	no	no	no	no	NA
ZYG11A	HGNC:32058	MGI:2446208	-	-	no	no	no	no	NA
ZYG11B	HGNC:25820	MGI:2685277	-	-	yes	no	no	no	NA
ZYX	HGNC:13200	MGI:103072	-	-	no	no	no	no	NA
ZZEF1	HGNC:29027	MGI:2444286	-	-	yes	no	no	no	NA
ZZZ3	HGNC:24523	MGI:1920453	-	-	yes	no	no	no	NA