disorder_id disorder_name gene_symbol description score query_phenotype match_phenotype OMIM:100300 Adams-Oliver Syndrome 1 ARHGAP31 Arhgap31 het embryo 12.265 HP:0002084 MP:0001697 OMIM:100300 Adams-Oliver Syndrome 1 ARHGAP31 Arhgap31 hom embryo 21.095 HP:0000822,HP:0001650,HP:0002092,HP:0001642 MP:0001914 OMIM:101400 Saethre-Chotzen Syndrome TWIST1 Twist1 het early 41.125 HP:0001822,HP:0001159,HP:0010104,HP:0001770,HP:0009951,HP:0000327,HP:0011323,HP:0000294,HP:0002974,HP:0002644,HP:0009968,HP:0004209,HP:0001156 MP:0000572,MP:0002110,MP:0005270,MP:0000579,MP:0004509 OMIM:102530 Spermatogenic Failure 6 SPATA16 Spata16 hom early 60.83 HP:0003251,HP:0031136,HP:0012205 MP:0001925,MP:0001926 OMIM:103580 Pseudohypoparathyroidism, Type Ia GNAS Gnas hom early 16.015 HP:0001513 MP:0003960 OMIM:104200 Alport Syndrome 3A, Autosomal Dominant COL4A3 Col4a3 hom early 39.2 HP:0000083,HP:0030034,HP:0000093,HP:0000099,HP:0002907,HP:0004722,HP:0003774,HP:0000121,HP:0000100,HP:0000790,HP:0002148,HP:0002157,HP:0000123,HP:0001134,HP:0001142 MP:0001319,MP:0008805,MP:0003917 OMIM:104300 Alzheimer Disease, Familial, 1 APP App het early 23.04 HP:0410054 MP:0005565,MP:0000194 OMIM:104300 Alzheimer Disease, Familial, 1 PLAU Plau hom early 31.905 HP:0000726 MP:0001417 OMIM:104300 Alzheimer Disease, Familial, 1 NOS3 Nos3 hom early 19.335 HP:0410054 MP:0005565,MP:0000198 OMIM:104530 Amelogenesis Imperfecta, Type Ia LAMB3 Lamb3 hom early 70.08 HP:0009722,HP:0000679,HP:0006311,HP:0006297,HP:0000705 MP:0002100 OMIM:105210 Amyloidosis, Hereditary, Transthyretin-Related TTR Ttr hom early 25.495 HP:0001251,HP:0002070,HP:0002078 MP:0001402 OMIM:105830 Angelman Syndrome UBE3A Ube3a het early 29.03 HP:0000752,HP:0002136,HP:0001251,HP:0007240,HP:0000749 MP:0001402,MP:0011940 OMIM:105830 Angelman Syndrome UBE3A Ube3a hom early 44.17 HP:0000752,HP:0002136,HP:0001251,HP:0007240,HP:0000749 MP:0001399,MP:0001402,MP:0011940,MP:0002757 OMIM:106210 Aniridia 1 PAX6 Pax6 het early 61.17 HP:0007750,HP:0010923,HP:0000518,HP:0000609,HP:0001083,HP:0200020,HP:0007676,HP:0009918,HP:0033743,HP:0007759,HP:0000526,HP:0011496 MP:0001293,MP:0001297,MP:0001314,MP:0005542 OMIM:106210 Aniridia 1 PAX6 Pax6 het embryo 27.335 HP:0007750,HP:0000609,HP:0007676,HP:0033743,HP:0000526 MP:0001297 OMIM:106210 Aniridia 1 PAX6 Pax6 hom embryo 27.18 HP:0007750,HP:0000609,HP:0007676,HP:0033743,HP:0000526 MP:0001293 OMIM:106600 Tooth Agenesis, Selective, 1 MSX1 Msx1 hom embryo 53.78 HP:0000668 MP:0000111 OMIM:108720 Atelosteogenesis, Type I FLNB Flnb het early 16.15 HP:0002949 MP:0000063 OMIM:108720 Atelosteogenesis, Type I FLNB Flnb hom early 22.03 HP:0003811,HP:0003826 MP:0011100 OMIM:108985 Sveinsson Chorioretinal Atrophy TEAD1 Tead1 het early 59.76 HP:0007950,HP:0000483 MP:0005543,MP:0001325 OMIM:108985 Sveinsson Chorioretinal Atrophy TEAD1 Tead1 het early 44.645 HP:0000483 MP:0011960,MP:0005543 OMIM:112240 Cole-Carpenter Syndrome 1 P4HB P4hb hom embryo 18.08 HP:0004322 MP:0003984 OMIM:112250 Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma MTAP Mtap het early 36.17 HP:0007819 MP:0001304 OMIM:112310 Boomerang Dysplasia FLNB Flnb hom early 25.29 HP:0003811 MP:0011100 OMIM:112600 Brachydactyly, Type A2 GDF5 Gdf5 hom early 52.83 HP:0001822,HP:0009575,HP:0010055,HP:0010109,HP:0009464,HP:0009568,HP:0004691,HP:0009467,HP:0008096,HP:0009182,HP:0004209,HP:0009161,HP:0004220,HP:0009536 MP:0000572,MP:0000550,MP:0000556,MP:0002110 OMIM:112600 Brachydactyly, Type A2 BMPR1B Bmpr1b hom early 33.595 HP:0001822,HP:0009575,HP:0010055,HP:0010109,HP:0009464,HP:0009568,HP:0004691,HP:0009467,HP:0008096,HP:0009182,HP:0004209,HP:0009161,HP:0004220,HP:0009536 MP:0000572 OMIM:113000 Brachydactyly, Type B1 ROR2 Ror2 hom embryo 42.85 HP:0005831,HP:0001159,HP:0010185,HP:0009835,HP:0003026,HP:0010554,HP:0005819,HP:0000696,HP:0012385,HP:0009473,HP:0011304 MP:0000562,MP:0000111,MP:0002109 OMIM:113100 Brachydactyly, Type C GDF5 Gdf5 hom early 61.995 HP:0009575,HP:0006206,HP:0009577,HP:0009439,HP:0009331,HP:0009495,HP:0004209,HP:0009436,HP:0009534,HP:0009417,HP:0009349,HP:0009516,HP:0011929,HP:0010034,HP:0009464,HP:0032078,HP:0009324,HP:0009463,HP:0001162,HP:0009527,HP:0001762,HP:0009356,HP:0001156,HP:0009587,HP:0009523,HP:0003067,HP:0009456,HP:0010259,HP:0004220,HP:0009536,HP:0009461 MP:0000572,MP:0000550,MP:0000556,MP:0002110 OMIM:113750 Albinism, Oculocutaneous, Type Vi SLC24A5 Slc24a5 hom early 31.01 HP:0007750 MP:0001325 OMIM:114500 Colorectal Cancer AXIN2 Axin2 hom embryo 16.615 HP:0006716,HP:0006753 MP:0009908 OMIM:115196 Cardiomyopathy, Familial Hypertrophic, 3 TPM1 Tpm1 het early 27.675 HP:0001639 MP:0002833 OMIM:115197 Cardiomyopathy, Familial Hypertrophic, 4 MYBPC3 Mybpc3 hom early 45.02 HP:0001714,HP:0002240,HP:0001640,HP:0001698,HP:0011623,HP:0031318,HP:0005144,HP:0001639,HP:0030718 MP:0000266,MP:0002833 OMIM:115310 Pheochromocytoma/Paraganglioma Syndrome 4 SDHB Sdhb het early 11.21 HP:0011976 MP:0002135 OMIM:116800 Cataract 5, Multiple Types HSF4 Hsf4 hom early 56.74 HP:0010693,HP:0100018,HP:0007971,HP:0001134,HP:0010920 MP:0001312,MP:0005102,MP:0001303,MP:0001319,MP:0001304 OMIM:116860 Cerebral Cavernous Malformations KRIT1 Krit1 het early 23.11 HP:0007797 MP:0001333 OMIM:117210 Spinocerebellar Ataxia 31 BEAN1 Bean1 hom early 54.06 HP:0001251,HP:0002070,HP:0002066 MP:0001406 OMIM:118200 Charcot-Marie-Tooth Disease, Demyelinating, Type 1B MPZ Mpz hom early 38.315 HP:0003376 MP:0001402,MP:0001406 OMIM:118210 Charcot-Marie-Tooth Disease, Axonal, Type 2A1 KIF1B Kif1b het early 28.965 HP:0003376 MP:0002574 OMIM:118210 Charcot-Marie-Tooth Disease, Axonal, Type 2A1 KIF1B Kif1b hom embryo 14.675 HP:0001765 MP:0002109 OMIM:119600 Cleidocranial Dysplasia 1 RUNX2 Runx2 het early 52.09 HP:0000347,HP:0009577,HP:0002812,HP:0002866,HP:0011001,HP:0006660,HP:0011069,HP:0010230,HP:0000894,HP:0100864,HP:0002650,HP:0003183,HP:0000680,HP:0002808,HP:0003304,HP:0008788,HP:0006297,HP:0001156,HP:0000882,HP:0002827,HP:0006040,HP:0000696,HP:0004220,HP:0003302 MP:0003795,MP:0005296,MP:0004599,MP:0005298,MP:0005270,MP:0004509,MP:0000137,MP:0010124 OMIM:119800 Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly PITX1 Pitx1 het early 52.06 HP:0010691,HP:0001841,HP:0003065,HP:0009756,HP:0001776,HP:0001762,HP:0009556 MP:0001312,MP:0000572,MP:0002932,MP:0000558,MP:0002110,MP:0008730,MP:0000559,MP:0004083 OMIM:119800 Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly PITX1 Pitx1 hom early 23.55 HP:0003826 MP:0011100 OMIM:120200 Coloboma, Ocular, Autosomal Dominant PAX6 Pax6 het early 51.72 HP:0000568,HP:0012521,HP:0007957,HP:0000659 MP:0001293,MP:0001297,MP:0001314,MP:0005542 OMIM:120200 Coloboma, Ocular, Autosomal Dominant PAX6 Pax6 het embryo 43.89 HP:0000568,HP:0012521 MP:0001297 OMIM:120200 Coloboma, Ocular, Autosomal Dominant PAX6 Pax6 hom embryo 35.9 HP:0000568,HP:0012521 MP:0001293 OMIM:120970 Cone-Rod Dystrophy 2 CRX Crx hom early 37.63 HP:0000548,HP:0007737,HP:0007722,HP:0011509,HP:0000533 MP:0001325 OMIM:121050 Contractural Arachnodactyly, Congenital FBN2 Fbn2 hom early 51.66 HP:0000938,HP:0001647,HP:0000347,HP:0000470,HP:0000768,HP:0006380,HP:0001631,HP:0001239,HP:0001166,HP:0009465,HP:0010499,HP:0002650,HP:0003066,HP:0003273,HP:0008453,HP:0001653,HP:0001762,HP:0002999,HP:0012385,HP:0001377,HP:0006487,HP:0001629,HP:0002751,HP:0001083,HP:0001840,HP:0002987,HP:0001634,HP:0005684,HP:0005879,HP:0001181 MP:0000150,MP:0000572,MP:0003795,MP:0000274,MP:0000564,MP:0000458,MP:0005298,MP:0004599,MP:0002187,MP:0000558,MP:0005108,MP:0010123,MP:0004509,MP:0000552,MP:0010570,MP:0002932,MP:0006241,MP:0001314,MP:0004609,MP:0005296,MP:0000266,MP:0002110,MP:0005270,MP:0000559,MP:0005542 OMIM:121050 Contractural Arachnodactyly, Congenital FBN2 Fbn2 hom late 24.655 HP:0001631,HP:0001629,HP:0001647,HP:0001634 MP:0000274,MP:0000266,MP:0004857 OMIM:123320 Creatine Phosphokinase, Elevated Serum CAV3 Cav3 hom early 18.07 HP:0003236 MP:0000182 OMIM:124000 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 BCS1L Bcs1l hom early 19.495 HP:0003811 MP:0011100 OMIM:124000 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 BCS1L Bcs1l hom embryo 18.7 HP:0003811 MP:0013292,MP:0013293 OMIM:125310 Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 NOTCH3 Notch3 hom early 16.59 HP:0000020 MP:0002135,MP:0003068,MP:0003917 OMIM:125370 Dentatorubral-Pallidoluysian Atrophy ATN1 Atn1 hom early 38.33 HP:0001266,HP:0000726,HP:0001251,HP:0001332 MP:0001513,MP:0001406,MP:0001417 OMIM:125595 Dermatopathia Pigmentosa Reticularis KRT14 Krt14 het embryo 15.77 HP:0000972 MP:0000562,MP:0000564 OMIM:125595 Dermatopathia Pigmentosa Reticularis KRT14 Krt14 hom embryo 15.77 HP:0000972 MP:0000562,MP:0000564 OMIM:125850 Maturity-Onset Diabetes Of The Young, Type 1 HNF4A Hnf4a het late 80.025 HP:0004904 MP:0005292,MP:0005355 OMIM:125851 Maturity-Onset Diabetes Of The Young, Type 2 GCK Gck het early 76.27 HP:0004904 MP:0005559,MP:0013279,MP:0005293 OMIM:125853 Type 2 Diabetes Mellitus MTNR1B Mtnr1b hom early 64.67 HP:0000855,HP:0005978 MP:0005292,MP:0013279 OMIM:125853 Type 2 Diabetes Mellitus SLC2A2 Slc2a2 het early 51.135 HP:0000855,HP:0005978 MP:0013279 OMIM:125853 Type 2 Diabetes Mellitus PDX1 Pdx1 het early 69.665 HP:0000855,HP:0005978 MP:0005293 OMIM:125853 Type 2 Diabetes Mellitus HNF4A Hnf4a het late 67.225 HP:0000855,HP:0005978 MP:0005292,MP:0005355 OMIM:125853 Type 2 Diabetes Mellitus HNF4A Hnf4a het middle 38.675 HP:0031819 MP:0001262 OMIM:125853 Type 2 Diabetes Mellitus PPARG Pparg het early 44.85 HP:0000855,HP:0005978 MP:0013279 OMIM:125853 Type 2 Diabetes Mellitus KCNJ11 Kcnj11 hom early 60.545 HP:0000855,HP:0005978 MP:0013278,MP:0005293 OMIM:125853 Type 2 Diabetes Mellitus AKT2 Akt2 het early 32.15 HP:0031819 MP:0001262 OMIM:125853 Type 2 Diabetes Mellitus AKT2 Akt2 hom early 49.5 HP:0031819,HP:0000855,HP:0005978 MP:0005559,MP:0001262,MP:0002078 OMIM:125853 Type 2 Diabetes Mellitus GCK Gck het early 62.555 HP:0000855,HP:0005978 MP:0005559,MP:0013279,MP:0005293 OMIM:125853 Type 2 Diabetes Mellitus ABCC8 Abcc8 hom early 62.885 HP:0000855,HP:0005978 MP:0005293 OMIM:128200 Episodic Kinesigenic Dyskinesia 1 PRRT2 Prrt2 hom early 38.82 HP:0002268,HP:0007098 MP:0001489 OMIM:128235 Dystonia 12 ATP1A3 Atp1a3 het early 49.875 HP:0000712,HP:0002317,HP:0002015,HP:0000716 MP:0001399,MP:0001392,MP:0001364,MP:0001415 OMIM:130720 Lateral Meningocele Syndrome NOTCH3 Notch3 hom early 23.905 HP:0001629,HP:0000011,HP:0001647 MP:0000274,MP:0000266,MP:0002833,MP:0003068,MP:0002135,MP:0003917 OMIM:131760 Epidermolysis Bullosa Simplex 1A, Generalized Severe KRT14 Krt14 het embryo 17.83 HP:0000972 MP:0000562,MP:0000564 OMIM:131760 Epidermolysis Bullosa Simplex 1A, Generalized Severe KRT14 Krt14 hom embryo 17.83 HP:0000972 MP:0000562,MP:0000564 OMIM:131800 Epidermolysis Bullosa Simplex 1C, Localized KRT14 Krt14 het embryo 22.38 HP:0007446 MP:0000562,MP:0000564 OMIM:131800 Epidermolysis Bullosa Simplex 1C, Localized KRT14 Krt14 hom embryo 22.38 HP:0007446 MP:0000562,MP:0000564 OMIM:131900 Epidermolysis Bullosa Simplex 1B, Generalized Intermediate KRT14 Krt14 het embryo 18.235 HP:0000972 MP:0000562,MP:0000564 OMIM:131900 Epidermolysis Bullosa Simplex 1B, Generalized Intermediate KRT14 Krt14 hom embryo 18.235 HP:0000972 MP:0000562,MP:0000564 OMIM:133200 Erythrokeratodermia Variabilis Et Progressiva 1 GJB3 Gjb3 het embryo 15.96 HP:0005588 MP:0000564 OMIM:133200 Erythrokeratodermia Variabilis Et Progressiva 1 GJB3 Gjb3 hom embryo 14 HP:0005588 MP:0000564 OMIM:134600 Fanconi Renotubular Syndrome 1 GATM Gatm hom early 42.2 HP:0002900,HP:0002148 MP:0005343,MP:0005179,MP:0002966,MP:0005627,MP:0008806 OMIM:135900 Coffin-Siris Syndrome 1 ARID1B Arid1b hom early 13.325 HP:0000028 MP:0001925 OMIM:135900 Coffin-Siris Syndrome 1 ARID1B Arid1b het early 24.265 HP:0000718,HP:0000722,HP:0002066 MP:0020420,MP:0020421,MP:0001402 OMIM:136140 Floating-Harbor Syndrome SRCAP Srcap het early 30.08 HP:0000527,HP:0002162,HP:0001007,HP:0004554 MP:0002073 OMIM:136520 Foveal Hypoplasia 1 PAX6 Pax6 het early 47.63 HP:0007750,HP:0007819 MP:0001293,MP:0001297,MP:0001314,MP:0005542 OMIM:136520 Foveal Hypoplasia 1 PAX6 Pax6 het embryo 41.29 HP:0007750 MP:0001297 OMIM:136520 Foveal Hypoplasia 1 PAX6 Pax6 hom embryo 37.615 HP:0007750 MP:0001293 OMIM:136900 Sorsby Fundus Dystrophy TIMP3 Timp3 hom early 50.82 HP:0007754,HP:0000533 MP:0001325,MP:0010097 OMIM:137200 Neuromyotonia And Axonal Neuropathy, Autosomal Recessive HINT1 Hint1 hom early 36.65 HP:0002380 MP:0000745 OMIM:137600 Anterior Segment Dysgenesis 4 PITX2 Pitx2 het early 51.785 HP:0000164,HP:0007990,HP:0007730 MP:0001319,MP:0001314,MP:0002100 OMIM:139090 Gray Platelet Syndrome NBEAL2 Nbeal2 hom early 56.865 HP:0011974,HP:0011872,HP:0012528,HP:0001744,HP:0008320,HP:0001873 MP:0000063,MP:0003179,MP:0010124,MP:0002599,MP:0000218 OMIM:141200 Hematuria, Benign Familial, 1 COL4A4 Col4a4 hom early 15.55 HP:0000790 MP:0011874 OMIM:141500 Migraine, Familial Hemiplegic, 1 CACNA1A Cacna1a het early 35.215 HP:0000713 MP:0020421 OMIM:142669 Beukes Hip Dysplasia UFSP2 Ufsp2 het embryo 40.18 HP:0003370,HP:0005743,HP:0001385,HP:0005041,HP:0008783,HP:0003182,HP:0006429 MP:0000562,MP:0000564 OMIM:142680 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A Tnfrsf1a hom early 18.19 HP:0002240 MP:0000274 OMIM:143200 Wagner Vitreoretinopathy VCAN Vcan het early 30.605 HP:0007643,HP:0007722,HP:0000648 MP:0001289 OMIM:143890 Hypercholesterolemia, Familial, 1 LDLR Ldlr hom early 32.29 HP:0003141,HP:0001114 MP:0008810,MP:0005178,MP:0011897,MP:0001556 OMIM:143890 Hypercholesterolemia, Familial, 1 PPP1R17 Ppp1r17 hom early 20.31 HP:0003141 MP:0002966,MP:0005627 OMIM:145350 Hypotaurinemic Retinal Degeneration And Cardiomyopathy SLC6A6 Slc6a6 hom early 30.885 HP:0500182,HP:0007401,HP:0030329,HP:0200070,HP:0007814,HP:0001644,HP:0025169,HP:0030609,HP:0007843 MP:0005565,MP:0005333,MP:0010506,MP:0001566,MP:0006243 OMIM:145500 Hypertension, Essential ATP1B1 Atp1b1 het early 38.6 HP:0004972,HP:0004421,HP:0005117 MP:0006203,MP:0010393 OMIM:145900 Hypertrophic Neuropathy Of Dejerine-Sottas MPZ Mpz hom early 39.985 HP:0002136,HP:0003376,HP:0001308 MP:0000745,MP:0001402,MP:0001406 OMIM:145980 Hypocalciuric Hypercalcemia, Familial, Type I CASR Casr het early 60.855 HP:0000843,HP:0003072,HP:0002918,HP:0002897,HP:0001733 MP:0000194,MP:0001944,MP:0001566 OMIM:145981 Hypocalciuric Hypercalcemia, Familial, Type Ii GNA11 Gna11 hom early 53 HP:0002918,HP:0003072 MP:0000194,MP:0002941,MP:0008805,MP:0000198 OMIM:145981 Hypocalciuric Hypercalcemia, Familial, Type Ii GNA11 Gna11 hom early 19.47 HP:0000934 MP:0004609 OMIM:146200 Hypoparathyroidism, Familial Isolated, 1 PTH Pth hom early 61.045 HP:0002905,HP:0002901,HP:0002199 MP:0000195 OMIM:147480 Cholestasis, Intrahepatic, Of Pregnancy, 1 ATP8B1 Atp8b1 hom late 31.265 HP:0200150 MP:0002968,MP:0005343,MP:0002941,MP:0000186,MP:0005627,MP:0005344 OMIM:147920 Kabuki Syndrome 1 KMT2D Kmt2d het early 25.8 HP:0001878,HP:0001973 MP:0005561,MP:0000221,MP:0002875 OMIM:147950 Hypogonadotropic Hypogonadism 2 With Or Without Anosmia FGFR1 Fgfr1 hom embryo 19.765 HP:0004322,HP:0000823 MP:0003984 OMIM:148050 Kbg Syndrome ANKRD11 Ankrd11 het early 23.185 HP:0002948,HP:0007018 MP:0001413,MP:0000063 OMIM:148050 Kbg Syndrome ANKRD11 Ankrd11 het early 11.795 HP:0000400,HP:0000358,HP:0000411 MP:0004738 OMIM:148190 Keratitis, Hereditary PAX6 Pax6 het early 54.495 HP:0000491,HP:0007759 MP:0001314,MP:0005542 OMIM:150250 Larsen Syndrome FLNB Flnb het early 21.81 HP:0001388,HP:0002948,HP:0006067,HP:0002779 MP:0000063,MP:0010124 OMIM:150400 Tooth Agenesis, Selective, 4 WNT10A Wnt10a hom early 32.785 HP:0002209,HP:0045075,HP:0010764,HP:0007410,HP:0008391,HP:0002231,HP:0001810 MP:0002764,MP:0000367,MP:0002075 OMIM:151623 Li-Fraumeni Syndrome TP53 Trp53 hom early 20.285 HP:0002488 MP:0012362 OMIM:151660 Lipodystrophy, Familial Partial, Type 2 LMNA Lmna het early 33.43 HP:0000831,HP:0003074,HP:0000842,HP:0005978 MP:0005292 OMIM:152700 Systemic Lupus Erythematosus DNASE1 Dnase1 hom early 24.535 HP:0001701,HP:0000123,HP:0033726 MP:0000274,MP:0000266,MP:0000538 OMIM:154780 Marshall Syndrome COL11A1 Col11a1 hom embryo 44.125 HP:0002986,HP:0002673,HP:0003031,HP:0000179,HP:0000201,HP:0006407,HP:0000175,HP:0006361,HP:0006095,HP:0012283,HP:0040025,HP:0012284,HP:0000343,HP:0004209,HP:0000675,HP:0006456,HP:0000215,HP:0000193 MP:0009908,MP:0000111,MP:0002109 OMIM:156200 Intellectual Developmental Disorder, Autosomal Dominant 1 MBD5 Mbd5 het early 36.99 HP:0000219,HP:0000736,HP:0001251,HP:0001852,HP:0000347,HP:0001773,HP:0001385,HP:0000232,HP:0005819,HP:0008081,HP:0004279,HP:0004209 MP:0001417,MP:0001402,MP:0003769,MP:0002764 OMIM:156400 Metaphyseal Chondrodysplasia, Jansen Type PTH1R Pth1r het early 27.46 HP:0000938,HP:0003273,HP:0006380 MP:0010024,MP:0010124 OMIM:156510 Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly RUNX2 Runx2 het early 63.29 HP:0100255,HP:0009577,HP:0000327,HP:0005877,HP:0003015,HP:0000926,HP:0004220,HP:0005625,HP:0010047 MP:0003795,MP:0005296,MP:0004599,MP:0005298,MP:0005270,MP:0004509,MP:0000137,MP:0010124 OMIM:158300 Arthrogryposis, Distal, Type 7 MYH8 Myh8 het early 28.18 HP:0001840,HP:0010621,HP:0001765,HP:0002827 MP:0000157 OMIM:158320 Muir-Torre Syndrome MLH1 Mlh1 hom early 14.93 HP:0009720,HP:0100615 MP:0001147 OMIM:158600 Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant DYNC1H1 Dync1h1 het early 39.885 HP:0002515 MP:0001402 OMIM:158810 Bethlem Myopathy 1 COL6A3 Col6a3 hom early 21.025 HP:0003236 MP:0000182 OMIM:160150 Myopathy, Centronuclear, 1 MTMR14 Mtmr14 hom early 44.19 HP:0008180 MP:0005343,MP:0002941,MP:0008806,MP:0002944 OMIM:160150 Myopathy, Centronuclear, 1 DNM2 Dnm2 het early 40.555 HP:0010628,HP:0008180 MP:0002968,MP:0001102 OMIM:160565 Myopathy, Tubular Aggregate, 1 STIM1 Stim1 het late 28.68 HP:0000615 MP:0001304 OMIM:161000 Naegeli-Franceschetti-Jadassohn Syndrome KRT14 Krt14 het embryo 16.06 HP:0000982 MP:0000562,MP:0000564 OMIM:161000 Naegeli-Franceschetti-Jadassohn Syndrome KRT14 Krt14 hom embryo 16.06 HP:0000982 MP:0000562,MP:0000564 OMIM:162000 Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 UMOD Umod hom early 40.005 HP:0002149 MP:0005565 OMIM:162400 Neuropathy, Hereditary Sensory And Autonomic, Type Ia SPTLC1 Sptlc1 het early 30.685 HP:0000518 MP:0011960,MP:0011962 OMIM:162830 Neutrophilia, Hereditary CSF3R Csf3r het early 26.91 HP:0001744 MP:0000274 OMIM:163200 Schimmelpenning-Feuerstein-Mims Syndrome NRAS Nras het early 21.69 HP:0001780,HP:0004912,HP:0001167 MP:0001556,MP:0002764 OMIM:164500 Spinocerebellar Ataxia 7 ATXN7 Atxn7 hom early 30.99 HP:0001337 MP:0001488 OMIM:165550 Optic Nerve Hypoplasia, Bilateral PAX6 Pax6 het early 24.435 HP:0012521,HP:0000609 MP:0001297,MP:0001293 OMIM:165550 Optic Nerve Hypoplasia, Bilateral PAX6 Pax6 het embryo 26.69 HP:0012521,HP:0000609 MP:0001297 OMIM:165550 Optic Nerve Hypoplasia, Bilateral PAX6 Pax6 hom embryo 24.65 HP:0012521,HP:0000609 MP:0001293 OMIM:166210 Osteogenesis Imperfecta, Type Ii COL1A2 Col1a2 hom early 46.02 HP:0006367,HP:0005622,HP:0002757,HP:0005855,HP:0005623,HP:0002982,HP:0002644,HP:0009826 MP:0000559,MP:0000062,MP:0000558,MP:0010123 OMIM:166220 Osteogenesis Imperfecta, Type Iv COL1A2 Col1a2 hom early 43.04 HP:0002757,HP:0004349,HP:0002659,HP:0003023,HP:0005005,HP:0000703 MP:0000062,MP:0000558,MP:0010025,MP:0010123,MP:0000559 OMIM:166250 Osteoglophonic Dysplasia FGFR1 Fgfr1 hom embryo 16.89 HP:0001510,HP:0003510,HP:0008905 MP:0003984 OMIM:166710 Osteoporosis COL1A2 Col1a2 hom early 42.82 HP:0000939 MP:0000062,MP:0010123 OMIM:167800 Pancreatitis, Hereditary CTRC Ctrc hom early 24.18 HP:0002570 MP:0009476 OMIM:168600 Parkinson Disease, Late-Onset MAPT Mapt hom early 32.915 HP:0000012,HP:0000716,HP:0000726,HP:0002015 MP:0011941,MP:0008528,MP:0001417 OMIM:168601 Parkinson Disease 1, Autosomal Dominant SNCA Snca hom early 29.975 HP:0002505,HP:0001288,HP:0002362 MP:0001392 OMIM:169400 Pelger-Huet Anomaly LBR Lbr hom early 46.97 HP:0001874,HP:0001873,HP:0011447,HP:0001902,HP:0001875,HP:0009824,HP:0010442,HP:0010041,HP:0001761,HP:0010044,HP:0010047 MP:0000550,MP:0005562,MP:0002110,MP:0000219,MP:0002764,MP:0000220,MP:0005016 OMIM:170100 Prolidase Deficiency PEPD Pepd hom early 35.805 HP:0001744,HP:0001873,HP:0001903 MP:0009923,MP:0013430,MP:0005562,MP:0008215,MP:0013772,MP:0013514,MP:0013678,MP:0013427,MP:0008074,MP:0010850,MP:0000218 OMIM:170100 Prolidase Deficiency PEPD Pepd hom early 35.255 HP:0000347,HP:0001744,HP:0007489,HP:0001903,HP:0000218,HP:0001873 MP:0005333,MP:0010506,MP:0002691,MP:0002591,MP:0002764 OMIM:170100 Prolidase Deficiency PEPD Pepd hom late 29.165 HP:0001744,HP:0001873,HP:0001903 MP:0000702,MP:0005017,MP:0008207,MP:0013691,MP:0008174 OMIM:170500 Hyperkalemic Periodic Paralysis SCN4A Scn4a het early 24.845 HP:0002153 MP:0002966,MP:0008806 OMIM:171300 Pheochromocytoma TMEM127 Tmem127 hom early 17.69 HP:0003072 MP:0002968,MP:0008806,MP:0005553,MP:0005344 OMIM:172700 Pick Disease Of Brain MAPT Mapt hom early 46.465 HP:0002145,HP:0002591,HP:0000737,HP:0000734,HP:0000748,HP:0030213,HP:0000733 MP:0011941,MP:0001417 OMIM:176400 Precocious Puberty, Central, 1 KISS1R Kiss1r hom early 26.08 HP:0011969,HP:0008232,HP:0008236 MP:0003558,MP:0002059,MP:0006415,MP:0001120,MP:0002631,MP:0004727,MP:0003642,MP:0003578,MP:0001146,MP:0001126 OMIM:176410 Precocious Puberty, Male-Limited LHCGR Lhcgr hom early 12.595 HP:0008734 MP:0000706 OMIM:176670 Hutchinson-Gilford Progeria Syndrome LMNA Lmna het early 15.72 HP:0000347 MP:0002764 OMIM:177650 Exfoliation Syndrome LOXL1 Loxl1 hom early 25.21 HP:0012636 MP:0001325 OMIM:178500 Interstitial Lung Disease 2 MUC5B Muc5b hom early 36.225 HP:0001394 MP:0000601,MP:0000598 OMIM:180300 Rheumatoid Arthritis NFKBIL1 Nfkbil1 hom early 31.015 HP:0011227 MP:0005419 OMIM:180500 Axenfeld-Rieger Syndrome, Type 1 PITX2 Pitx2 het early 58.82 HP:0000219,HP:0000558,HP:0000047,HP:0000824,HP:0000327,HP:0011500,HP:0000482,HP:0007676,HP:0009918,HP:0000677,HP:0000322,HP:0000668,HP:0000526,HP:0000691,HP:0000485,HP:0000627,HP:0007873 MP:0001319,MP:0001314,MP:0002100,MP:0001147 OMIM:180550 Ring Dermoid Of Cornea PITX2 Pitx2 het early 58.625 HP:0025612,HP:0025348,HP:0000481,HP:0000502,HP:0500070 MP:0001319,MP:0001314 OMIM:180750 Robinow-Sorauf Syndrome TWIST1 Twist1 het early 32.27 HP:0001822,HP:0010084,HP:0010055,HP:0011304 MP:0004509,MP:0000572,MP:0002110 OMIM:180800 Roussy-Levy Hereditary Areflexic Dystasia MPZ Mpz hom early 50.715 HP:0002345,HP:0007351,HP:0002066 MP:0000745,MP:0001402,MP:0001406 OMIM:180920 Aplasia Of Lacrimal And Salivary Glands FGF10 Fgf10 het early 26.065 HP:0007732,HP:0001092,HP:0007656 MP:0005287 OMIM:181270 Scalp-Ear-Nipple Syndrome KCTD1 Kctd1 hom early 38.74 HP:0000518,HP:0011672,HP:0001635,HP:0000519,HP:0009916,HP:0000822,HP:0004755,HP:0000612 MP:0002834,MP:0006203,MP:0001304,MP:0001289,MP:0012121,MP:0005542 OMIM:181350 Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant LMNA Lmna het early 18.03 HP:0001771,HP:0009053,HP:0011727,HP:0009049 MP:0002764 OMIM:181450 Ulnar-Mammary Syndrome TBX3 Tbx3 het early 15.055 HP:0011675 MP:0006203 OMIM:182230 Septooptic Dysplasia HESX1 Hesx1 hom embryo 32.005 HP:0007766,HP:0000609 MP:0001293 OMIM:182940 Neural Tube Defects, Susceptibility To FUZ Fuz hom embryo 41.095 HP:0003298,HP:0000238,HP:0002475,HP:0002323 MP:0002151,MP:0003720 OMIM:182940 Neural Tube Defects, Susceptibility To VANGL2 Vangl2 het embryo 15.89 HP:0002475,HP:0003298,HP:0002323 MP:0001711 OMIM:182940 Neural Tube Defects, Susceptibility To VANGL2 Vangl2 hom embryo 48.63 HP:0003298,HP:0000238,HP:0002475,HP:0002323 MP:0000914,MP:0001711,MP:0003984 OMIM:183086 Spinocerebellar Ataxia 6 CACNA1A Cacna1a het early 20.75 HP:0002015 MP:0020421 OMIM:184460 Stapes Ankylosis With Broad Thumbs And Toes NOG Nog het early 34.175 HP:0003189,HP:0002949 MP:0002759,MP:0000443 OMIM:184460 Stapes Ankylosis With Broad Thumbs And Toes NOG Nog hom embryo 21.24 HP:0000466 MP:0002884 OMIM:185000 Overhydrated Hereditary Stomatocytosis RHAG Rhag hom early 43.54 HP:0001878,HP:0001923,HP:0002240,HP:0001744,HP:0005518,HP:0004446,HP:0002904 MP:0000702,MP:0000709,MP:0005562,MP:0000274,MP:0005568,MP:0002339,MP:0000703 OMIM:185070 Stormorken Syndrome STIM1 Stim1 het early 33.235 HP:0032550,HP:0001746,HP:0001903,HP:0000790,HP:0006270,HP:0001873 MP:0000702,MP:0005013,MP:0002339,MP:0003068,MP:0000219,MP:0000218 OMIM:185070 Stormorken Syndrome STIM1 Stim1 het embryo 17.75 HP:0004322 MP:0003984 OMIM:185070 Stormorken Syndrome STIM1 Stim1 het late 38.06 HP:0032550,HP:0001746,HP:0001903,HP:0000790,HP:0006270,HP:0001873 MP:0002135,MP:0000691,MP:0002989,MP:0000689 OMIM:186500 Multiple Synostoses Syndrome 1 NOG Nog het early 28.81 HP:0008460,HP:0003416,HP:0000431 MP:0002759,MP:0000443 OMIM:187300 Telangiectasia, Hereditary Hemorrhagic, Type 1 ENG Eng het early 17.73 HP:0030049,HP:0001901,HP:0001903 MP:0000219 OMIM:187900 Bleeding Disorder, Platelet-Type, 17 GFI1B Gfi1b het early 23.405 HP:0012526,HP:0040185,HP:0031965,HP:0001873 MP:0000222,MP:0005013 OMIM:187950 Thrombocythemia 1 THPO Thpo hom early 48.77 HP:0001744,HP:0004866,HP:0008320,HP:0001894,HP:0008148 MP:0003179,MP:0002599 OMIM:188400 Digeorge Syndrome TBX1 Tbx1 het early 31.37 HP:0008211,HP:0001744,HP:0000860,HP:0000034,HP:0000138,HP:0000778,HP:0007018,HP:0001081,HP:0001397 MP:0001399,MP:0001944 OMIM:188400 Digeorge Syndrome TBX1 Tbx1 het embryo 15.87 HP:0001537 MP:0001711 OMIM:188400 Digeorge Syndrome TBX1 Tbx1 hom embryo 16.465 HP:0001537,HP:0004322 MP:0001711,MP:0003984 OMIM:188580 Thyrotoxic Periodic Paralysis, Susceptibility To, 1 CACNA1S Cacna1s hom embryo 23.96 HP:0001649,HP:0001962 MP:0001914 OMIM:189500 Witkop Syndrome MSX1 Msx1 hom embryo 33.54 HP:0006347,HP:0006349 MP:0000111 OMIM:189800 Preeclampsia/Eclampsia 1 NOS3 Nos3 hom early 30.29 HP:0000093,HP:0001873 MP:0000691,MP:0005011,MP:0002606,MP:0002989,MP:0000219,MP:0000689,MP:0002135,MP:0005016 OMIM:192430 Velocardiofacial Syndrome TBX1 Tbx1 het early 25.475 HP:0000829,HP:0000028,HP:0000718 MP:0001399,MP:0001944 OMIM:192430 Velocardiofacial Syndrome TBX1 Tbx1 het embryo 17.61 HP:0001537 MP:0001711 OMIM:192430 Velocardiofacial Syndrome TBX1 Tbx1 hom embryo 18.785 HP:0001537,HP:0004322 MP:0001711,MP:0003984 OMIM:193530 Weyers Acrofacial Dysostosis EVC2 Evc2 hom early 27.87 HP:0006315,HP:0000698 MP:0030610 OMIM:193670 Whim Syndrome 1 CXCR4 Cxcr4 het early 38.14 HP:0000055,HP:0000008,HP:0001875 MP:0000691,MP:0005013,MP:0001148,MP:0000689,MP:0001146,MP:0000220,MP:0000218 OMIM:194380 Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema PIEZO1 Piezo1 het early 29.225 HP:0003281,HP:0003641 MP:0002941,MP:0000538 OMIM:194380 Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema PIEZO1 Piezo1 hom embryo 44.155 HP:0000980 MP:0003717 OMIM:200110 Ablepharon-Macrostomia Syndrome TWIST2 Twist2 het early 16.065 HP:0000062,HP:0000054,HP:0000059,HP:0002557 MP:0001147,MP:0001146 OMIM:200150 Choreoacanthocytosis VPS13A Vps13a hom early 16.82 HP:0001927 MP:0013764,MP:0008124 OMIM:200700 Acromesomelic Dysplasia 2A GDF5 Gdf5 hom early 45.965 HP:0003022,HP:0005792,HP:0003097,HP:0006498,HP:0001162,HP:0001371,HP:0002984,HP:0003038,HP:0001773,HP:0006228,HP:0003086,HP:0005736,HP:0001964,HP:0009803,HP:0011927,HP:0005914 MP:0000062,MP:0000572,MP:0000550,MP:0002110,MP:0000556 OMIM:201000 Carpenter Syndrome 1 RAB23 Rab23 het early 20.21 HP:0004442,HP:0001513,HP:0004443,HP:0001748,HP:0004440 MP:0003961,MP:0002599,MP:0010124 OMIM:201250 Acromesomelic Dysplasia 2C GDF5 Gdf5 hom early 41.13 HP:0003022,HP:0006110,HP:0002986,HP:0000954,HP:0006011,HP:0003042,HP:0009778,HP:0002984,HP:0002827,HP:0003038,HP:0001773,HP:0005096,HP:0003086,HP:0005736,HP:0006144,HP:0006014 MP:0000572,MP:0000550,MP:0000556,MP:0002110 OMIM:201475 Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of ACADVL Acadvl hom early 36.785 HP:0001958 MP:0013278,MP:0005293 OMIM:202110 Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency CYP17A1 Cyp17a1 hom early 31.725 HP:0000062,HP:0000037 MP:0009198,MP:0009204 OMIM:202400 Afibrinogenemia, Congenital FGB Fgb hom early 23.495 HP:0003811,HP:0012223 MP:0010067,MP:0011110 OMIM:203200 Albinism, Oculocutaneous, Type Ii MC1R Mc1r hom early 57.395 HP:0005599,HP:0007603,HP:0001022,HP:0000635,HP:0002297,HP:0001010 MP:0002075 OMIM:203655 Alopecia Universalis Congenita HR Hr hom early 33.905 HP:0002223,HP:0000561,HP:0002555,HP:0002221,HP:0002289 MP:0002098,MP:0000367,MP:0001284 OMIM:203780 Alport Syndrome 2, Autosomal Recessive COL4A4 Col4a4 hom early 48.05 HP:0000083,HP:0000518,HP:0000093,HP:0200020,HP:0003774,HP:0000790,HP:0000100,HP:0011501,HP:0000123 MP:0001304,MP:0011874 OMIM:203800 Alstrom Syndrome ALMS1 Alms1 hom early 21.13 HP:0003233,HP:0002155,HP:0002149 MP:0008806 OMIM:204100 Leber Congenital Amaurosis 2 RPE65 Rpe65 hom early 47.805 HP:0000563,HP:0000543,HP:0000518,HP:0001099,HP:0030825,HP:0000580,HP:0007843 MP:0001317,MP:0001325,MP:0006243 OMIM:204690 Amelogenesis Imperfecta, Type Ig FAM20A Fam20a hom early 46.56 HP:0000083,HP:0000103,HP:0004727,HP:0006302,HP:0000169,HP:0000212,HP:0000121,HP:0000805,HP:0000696,HP:0000705 MP:0002135,MP:0002100,MP:0010025 OMIM:206200 Iron-Refractory Iron Deficiency Anemia TMPRSS6 Tmprss6 hom early 44.65 HP:0031877,HP:0004447,HP:0004840,HP:0011273 MP:0000208,MP:0005642,MP:0005562,MP:0000194,MP:0002591,MP:0002874,MP:0008079,MP:0013676,MP:0010850,MP:0008045,MP:0013648 OMIM:206900 Microphthalmia, Syndromic 3 SOX2 Sox2 het early 34.095 HP:0012521,HP:0000518,HP:0000609,HP:0000647 MP:0001319,MP:0008259,MP:0010097 OMIM:206900 Microphthalmia, Syndromic 3 SOX2 Sox2 het embryo 17.89 HP:0008897,HP:0004322 MP:0003984 OMIM:206920 Microphthalmia With Limb Anomalies SMOC1 Smoc1 het early 18.045 HP:0000499 MP:0002075 OMIM:206920 Microphthalmia With Limb Anomalies SMOC1 Smoc1 het early 30.485 HP:0000278 MP:0000455 OMIM:206920 Microphthalmia With Limb Anomalies SMOC1 Smoc1 hom early 56.55 HP:0000954,HP:0005709,HP:0002982,HP:0001215,HP:0001849,HP:0010715,HP:0000499,HP:0001180,HP:0001830,HP:0001440,HP:0000278,HP:0012745,HP:0001770,HP:0001241,HP:0001162,HP:0005867,HP:0003038,HP:0001762,HP:0008081,HP:0001852,HP:0002827,HP:0000581,HP:0003196,HP:0000494 MP:0004509,MP:0000443,MP:0005287,MP:0000564,MP:0002110,MP:0002764,MP:0000455 OMIM:208085 Arthrogryposis, Renal Dysfunction, And Cholestasis 1 VPS33B Vps33b het early 16.545 HP:0002908 MP:0001556 OMIM:208250 Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome PRG4 Prg4 hom early 40.07 HP:0003040,HP:0001369,HP:0001239,HP:0005879,HP:0005186 MP:0002932 OMIM:208540 Renal-Hepatic-Pancreatic Dysplasia 1 NPHP3 Nphp3 hom early 20.36 HP:0003811 MP:0011110 OMIM:208920 Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia APTX Aptx hom early 38.93 HP:0003124,HP:0003073,HP:0003236 MP:0002941 OMIM:209300 Atransferrinemia TF Trf het early 40.51 HP:0001931 MP:0005561 OMIM:209300 Atransferrinemia TF Trf het early 27.03 HP:0012239 MP:0004151 OMIM:209300 Atransferrinemia TF Trf het late 49.945 HP:0012239,HP:0001931 MP:0001589,MP:0001565 OMIM:209500 Atrichia With Papular Lesions HR Hr hom early 30.69 HP:0008070 MP:0002098,MP:0000367,MP:0001284 OMIM:209885 Barber-Say Syndrome TWIST2 Twist2 het early 33.17 HP:0002561,HP:0000028,HP:0000064,HP:0000059,HP:0002557 MP:0001147,MP:0001146 OMIM:209900 Bardet-Biedl Syndrome 1 BBS1 Bbs1 het early 21.625 HP:0001712 MP:0000266,MP:0002188 OMIM:210250 Sitosterolemia 1 ABCG8 Abcg8 hom early 68.46 HP:0001923,HP:0008158,HP:0001873,HP:0001744,HP:0001902,HP:0033341,HP:0001114,HP:0001084,HP:0004446,HP:0003540,HP:0003124,HP:0004802,HP:0004870,HP:0020181,HP:0001903 MP:0013513,MP:0004151,MP:0001552,MP:0000599,MP:0002591,MP:0005018,MP:0005642,MP:0002941,MP:0000691,MP:0005562,MP:0008207,MP:0005178,MP:0005634,MP:0002874,MP:0008079,MP:0005627,MP:0000689,MP:0005419,MP:0002599,MP:0002968,MP:0005343,MP:0001303,MP:0008040,MP:0008075,MP:0005553,MP:0001304,MP:0013510,MP:0000598,MP:0010067,MP:0005278 OMIM:210720 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii PCNT Pcnt het early 19.515 HP:0000826,HP:0000047,HP:0005978 MP:0001147,MP:0002135,MP:0001146,MP:0002989 OMIM:210720 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii PCNT Pcnt hom embryo 30.62 HP:0008897,HP:0001511,HP:0003498 MP:0003984 OMIM:211380 Elsahy-Waters Syndrome CDH11 Cdh11 hom early 31.81 HP:0000048,HP:0000047,HP:0008689,HP:0000431,HP:0000808 MP:0000443,MP:0001147,MP:0003068,MP:0002135,MP:0001146 OMIM:211600 Cholestasis, Progressive Familial Intrahepatic, 1 ATP8B1 Atp8b1 hom early 42.8 HP:0000938,HP:0002240,HP:0001744,HP:0002748,HP:0001081,HP:0001508 MP:0003795,MP:0000063,MP:0002875,MP:0001157,MP:0002874,MP:0010124,MP:0000208,MP:0003960,MP:0011874,MP:0000218 OMIM:211600 Cholestasis, Progressive Familial Intrahepatic, 1 ATP8B1 Atp8b1 hom late 54.395 HP:0000938,HP:0000421,HP:0002908,HP:0001744,HP:0002748,HP:0001508 MP:0002968,MP:0003795,MP:0005333,MP:0002941,MP:0005343,MP:0000186,MP:0005562,MP:0010506,MP:0000063,MP:0005344,MP:0002875,MP:0002591,MP:0002874,MP:0005627,MP:0010124,MP:0000208,MP:0003960 OMIM:212065 Congenital Disorder Of Glycosylation, Type Ia PMM2 Pmm2 het early 21.28 HP:0003073,HP:0003146 MP:0005565 OMIM:212093 Cardiac Valvular Dysplasia 1 PLD1 Pld1 hom early 27.655 HP:0001629,HP:0031295,HP:0010446,HP:0034350,HP:0001655,HP:0011623,HP:0004762,HP:0001634,HP:0011555,HP:0001642,HP:0001704,HP:0001631,HP:0034348,HP:0001718,HP:0011662 MP:0002833 OMIM:212112 Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism LMNA Lmna het early 22.285 HP:0031610,HP:0200021,HP:0000894,HP:0034681 MP:0002764 OMIM:212500 Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy LEMD2 Lemd2 het early 42.97 HP:0001118 MP:0011959 OMIM:212720 Martsolf Syndrome 1 RAB3GAP2 Rab3gap2 hom early 37.665 HP:0000286,HP:0001695,HP:0001635,HP:0001638,HP:0000494 MP:0005287,MP:0005333,MP:0010506 OMIM:212840 Gordon Holmes Syndrome RNF216 Rnf216 hom early 28.375 HP:0000869,HP:0000044,HP:0000876,HP:0000786 MP:0001925 OMIM:213300 Joubert Syndrome 1 INPP5E Inpp5e hom embryo 52.065 HP:0001320,HP:0002335,HP:0002508,HP:0011933,HP:0001162,HP:0007271,HP:0001830,HP:0002365,HP:0002195,HP:0002419,HP:0030084 MP:0000562,MP:0000897,MP:0001697,MP:0003720,MP:0000841,MP:0002109 OMIM:213600 Basal Ganglia Calcification, Idiopathic, 1 SLC20A2 Slc20a2 hom early 40.73 HP:0004363,HP:0002305,HP:0001337,HP:0001332 MP:0002968,MP:0010092,MP:0006358 OMIM:213600 Basal Ganglia Calcification, Idiopathic, 1 SLC20A2 Slc20a2 het early 37.55 HP:0002305,HP:0002072,HP:0002406,HP:0002075 MP:0001516 OMIM:213700 Cerebrotendinous Xanthomatosis CYP27A1 Cyp27a1 hom early 33.425 HP:0001681,HP:0001658,HP:0001114,HP:0003107,HP:0001081 MP:0002968,MP:0005333,MP:0000186,MP:0010506,MP:0002981,MP:0005179,MP:0010393,MP:0005419,MP:0002644 OMIM:214100 Peroxisome Biogenesis Disorder 1A (Zellweger) PEX1 Pex1 het early 27.335 HP:0001401,HP:0002240,HP:0001629,HP:0006579 MP:0002753,MP:0000598 OMIM:214450 Griscelli Syndrome, Type 1 MYO5A Myo5a hom early 72.49 HP:0001008,HP:0002227,HP:0002226,HP:0002218,HP:0004527,HP:0002220,HP:0001010 MP:0002075 OMIM:214500 Chediak-Higashi Syndrome LYST Lyst hom early 51.96 HP:0011993,HP:0005599,HP:0001251,HP:0001873,HP:0001744,HP:0002218,HP:0001875,HP:0001107,HP:0001882,HP:0005592,HP:0001288,HP:0012156,HP:0032499,HP:0012484,HP:0001104,HP:0001010,HP:0001903,HP:0007730 MP:0002590,MP:0001322,MP:0005561,MP:0001402,MP:0002075,MP:0001325 OMIM:215045 Chondrodysplasia, Blomstrand Type PTH1R Pth1r het early 31.595 HP:0005789,HP:0004233,HP:0008108 MP:0010124 OMIM:215045 Chondrodysplasia, Blomstrand Type PTH1R Pth1r hom early 25.745 HP:0003826 MP:0011100 OMIM:215140 Greenberg Dysplasia LBR Lbr hom early 43.88 HP:0002983,HP:0000347,HP:0005855,HP:0010659,HP:0030721,HP:0008479,HP:0012789,HP:0004599,HP:0003811,HP:0004331,HP:0009803,HP:0010049,HP:0008905,HP:0006646,HP:0001433,HP:0001830,HP:0010655,HP:0002694,HP:0000773,HP:0003027,HP:0003021,HP:0005019,HP:0004598,HP:0000878,HP:0002757,HP:0001162,HP:0003015,HP:0006619,HP:0001169,HP:0003826,HP:0041159,HP:0001156,HP:0009487,HP:0001883,HP:0003026,HP:0005807,HP:0004510,HP:0005528,HP:0009381,HP:0011986 MP:0000702,MP:0003795,MP:0000550,MP:0000063,MP:0005562,MP:0001147,MP:0011110,MP:0002110,MP:0005016,MP:0000219,MP:0002764,MP:0000220,MP:0010124 OMIM:216400 Cockayne Syndrome A ERCC8 Ercc8 hom early 25.14 HP:0001251,HP:0001288 MP:0001392 OMIM:216550 Cohen Syndrome VPS13B Vps13b hom early 45.275 HP:0007737,HP:0001135,HP:0001518,HP:0011504,HP:0000648,HP:0001634,HP:0001882,HP:0001875,HP:0008915 MP:0002590,MP:0002792,MP:0002188,MP:0000221,MP:0001289,MP:0003961,MP:0010097,MP:0001325,MP:0000692,MP:0005016 OMIM:218330 Cranioectodermal Dysplasia 1 IFT122 Ift122 het early 16.165 HP:0002901 MP:0005343 OMIM:219080 Acth-Independent Macronodular Adrenal Hyperplasia GNAS Gnas hom early 15.6 HP:0001956 MP:0003960 OMIM:220100 Cystinuria SLC3A1 Slc3a1 hom early 37.08 HP:0000083,HP:0000010,HP:0003532,HP:0003268,HP:0000787,HP:0003131,HP:0003297 MP:0008528,MP:0011625,MP:0009552,MP:0000538,MP:0003068,MP:0002989,MP:0002135,MP:0011874,MP:0003917 OMIM:220120 D-Glyceric Aciduria GLYCTK Glyctk hom early 17.51 HP:0008288 MP:0002968 OMIM:220290 Deafness, Autosomal Recessive 1A GJB3 Gjb3 het early 37.705 HP:0000407 MP:0004738 OMIM:222470 Trichohepatoenteric Syndrome 1 SKIC3 Skic3 het early 31.045 HP:0002240,HP:0000047,HP:0011877,HP:0001744,HP:0003452,HP:0003073,HP:0012023,HP:0011031,HP:0003235,HP:0001894,HP:0004734 MP:0005627,MP:0005641,MP:0011874 OMIM:222600 Diastrophic Dysplasia SLC26A2 Slc26a2 hom embryo 30.76 HP:0000175,HP:0002857,HP:0009465,HP:0001762,HP:0009381,HP:0001234 MP:0009908,MP:0002109 OMIM:222700 Lysinuric Protein Intolerance SLC7A7 Slc7a7 het early 14.87 HP:0001956,HP:0001508 MP:0003960 OMIM:222700 Lysinuric Protein Intolerance SLC7A7 Slc7a7 hom embryo 16.19 HP:0004322 MP:0003984 OMIM:223800 Dyggve-Melchior-Clausen Disease DYM Dym hom early 46.665 HP:0003016,HP:0000911,HP:0010743,HP:0002980,HP:0002982,HP:0003375,HP:0002866,HP:0004209,HP:0006450,HP:0002970,HP:0010049,HP:0008786,HP:0003311,HP:0003180,HP:0010230,HP:0004991,HP:0003183,HP:0001763,HP:0004997,HP:0001762,HP:0001769,HP:0012385,HP:0001156,HP:0000882,HP:0002857,HP:0012428,HP:0001498 MP:0002932,MP:0003795,MP:0010124,MP:0002764 OMIM:224120 Anemia, Congenital Dyserythropoietic, Type Ia CDAN1 Cdan1 het early 37.605 HP:0001878,HP:0001923,HP:0002240,HP:0011273,HP:0010972,HP:0001744,HP:0001981,HP:0002904,HP:0004447,HP:0012132,HP:0020122,HP:0005532 MP:0003179,MP:0000274,MP:0002941 OMIM:224120 Anemia, Congenital Dyserythropoietic, Type Ia CDAN1 Cdan1 het embryo 17.955 HP:0001530 MP:0003984 OMIM:224500 Dystonia 2, Torsion, Autosomal Recessive HPCA Hpca hom early 24.39 HP:0002015 MP:0001399 OMIM:224500 Dystonia 2, Torsion, Autosomal Recessive HPCA Hpca hom late 23.73 HP:0002015 MP:0001399 OMIM:224690 Meier-Gorlin Syndrome 1 ORC1 Orc1 het early 26.05 HP:0001388,HP:0001508,HP:0006628,HP:0001518,HP:0001371,HP:0012385,HP:0009473 MP:0000062,MP:0003960,MP:0010123,MP:0010025 OMIM:224750 Schopf-Schulz-Passarge Syndrome WNT10A Wnt10a hom early 42.665 HP:0001807,HP:0011313,HP:0001816,HP:0031405,HP:0000982,HP:0001806,HP:0008404,HP:0001792,HP:0008070,HP:0002231,HP:0031454 MP:0002764,MP:0000367,MP:0002075 OMIM:225100 Ectopia Lentis 2, Isolated, Autosomal Recessive ADAMTSL4 Adamtsl4 hom late 68.355 HP:0001083 MP:0001319,MP:0001304,MP:0006241 OMIM:225200 Ectopia Lentis Et Pupillae ADAMTSL4 Adamtsl4 hom late 76.88 HP:0000518,HP:0001083,HP:0012805,HP:0009918,HP:0009917 MP:0001319,MP:0001304,MP:0006241 OMIM:225320 Ehlers-Danlos Syndrome, Cardiac Valvular Type COL1A2 Col1a2 hom early 28.785 HP:0001388,HP:0000023,HP:0001848,HP:0001634,HP:0001075 MP:0000062,MP:0000274,MP:0000558,MP:0002833,MP:0010025,MP:0000559,MP:0002753 OMIM:225500 Ellis-Van Creveld Syndrome EVC2 Evc2 hom early 39.945 HP:0000684,HP:0000695,HP:0000047,HP:0006477,HP:0000204,HP:0000039,HP:0000028,HP:0000668,HP:0001631,HP:0011565 MP:0000274,MP:0000266,MP:0009709,MP:0001120,MP:0005084,MP:0030610 OMIM:226200 Enterokinase Deficiency TMPRSS15 Tmprss15 hom early 42.37 HP:0001508,HP:0003075 MP:0005565,MP:0005633,MP:0001262,MP:0008806 OMIM:226650 Epidermolysis Bullosa, Junctional 1A, Intermediate LAMB3 Lamb3 hom early 55.775 HP:0000670,HP:0006297,HP:0000668,HP:0200097 MP:0002100 OMIM:226700 Epidermolysis Bullosa, Junctional 1B, Severe LAMB3 Lamb3 hom early 48.155 HP:0000670,HP:0006297 MP:0002100 OMIM:226900 Epiphyseal Dysplasia, Multiple, 4 SLC26A2 Slc26a2 hom embryo 22.28 HP:0010049,HP:0008802,HP:0003370,HP:0001762,HP:0001156 MP:0002109 OMIM:226990 Immunodeficiency 32B IRF8 Irf8 hom early 55.98 HP:0011897,HP:0001880,HP:0001744,HP:0001903,HP:0003203,HP:0003073,HP:0012312,HP:0001873 MP:0002590,MP:0005633,MP:0003179,MP:0005561,MP:0005568,MP:0002875 OMIM:227646 Fanconi Anemia, Complementation Group D2 FANCD2 Fancd2 het early 18.84 HP:0000054,HP:0000125,HP:0000085,HP:0000086 MP:0002989 OMIM:227810 Fanconi-Bickel Syndrome SLC2A2 Slc2a2 het early 41.235 HP:0003537,HP:0002148,HP:0002900,HP:0012024,HP:0003162,HP:0003076,HP:0011998,HP:0002904,HP:0012202 MP:0013279,MP:0006353 OMIM:228520 Fibrochondrogenesis 1 COL11A1 Col11a1 het early 18.47 HP:0001655 MP:0010579 OMIM:228520 Fibrochondrogenesis 1 COL11A1 Col11a1 hom early 22.505 HP:0003826 MP:0011100 OMIM:228520 Fibrochondrogenesis 1 COL11A1 Col11a1 hom embryo 41.465 HP:0008905,HP:0000947,HP:0000160,HP:0200055,HP:0000175,HP:0003038,HP:0001773,HP:0004279,HP:0004209,HP:0012385,HP:0000343 MP:0009908,MP:0000111,MP:0002109 OMIM:228900 Acromesomelic Dysplasia 2B GDF5 Gdf5 hom early 41.195 HP:0010049,HP:0001156,HP:0008905,HP:0008119,HP:0010743,HP:0003038,HP:0004097,HP:0006092,HP:0002990,HP:0009803,HP:0010760 MP:0000572,MP:0000550,MP:0000556,MP:0002110 OMIM:229050 Folate Malabsorption, Hereditary SLC46A1 Slc46a1 hom early 29.595 HP:0002305,HP:0001251 MP:0001402 OMIM:229200 Brittle Cornea Syndrome 1 ZNF469 Zfp469 hom early 34.465 HP:0000563,HP:0001119,HP:0000481,HP:0100689,HP:0000365 MP:0001304,MP:0004738 OMIM:230000 Fucosidosis FUCA1 Fuca1 hom early 27.33 HP:0001268,HP:0000369,HP:0000365 MP:0004738,MP:0001417 OMIM:230800 Gaucher Disease, Type I GBA1 Gba1 het early 38.695 HP:0001876,HP:0000421,HP:0001971,HP:0001744,HP:0001903,HP:0000822,HP:0001653,HP:0002092,HP:0001650,HP:0001873 MP:0010392,MP:0002599 OMIM:230900 Gaucher Disease, Type Ii GBA1 Gba1 het early 30.725 HP:0001744,HP:0001873,HP:0001903 MP:0002599 OMIM:231000 Gaucher Disease, Type Iii GBA1 Gba1 het early 36.565 HP:0001744,HP:0001876,HP:0001873 MP:0002599 OMIM:231005 Gaucher Disease, Type Iiic GBA1 Gba1 het early 21.06 HP:0001744,HP:0001876,HP:0001718 MP:0010392,MP:0002599 OMIM:231200 Bernard-Soulier Syndrome GP9 Gp9 hom early 66.93 HP:0001873,HP:0001902,HP:0040185,HP:0011871 MP:0002599,MP:0002606 OMIM:231200 Bernard-Soulier Syndrome GP1BB Gp1bb hom early 68.5 HP:0011871,HP:0001902,HP:0040185,HP:0000132,HP:0001873 MP:0002590,MP:0001147,MP:0003179,MP:0001146,MP:0002599 OMIM:231680 Multiple Acyl-Coa Dehydrogenase Deficiency ETFDH Etfdh het early 33.205 HP:0000519 MP:0001303 OMIM:231680 Multiple Acyl-Coa Dehydrogenase Deficiency ETFDH Etfdh hom early 21.94 HP:0003811 MP:0011100 OMIM:231680 Multiple Acyl-Coa Dehydrogenase Deficiency ETFA Etfa hom early 21.94 HP:0003811 MP:0011100 OMIM:231680 Multiple Acyl-Coa Dehydrogenase Deficiency ETFB Etfb het early 21.535 HP:0002240,HP:0002614,HP:0001397,HP:0000952 MP:0004952,MP:0002833 OMIM:232400 Glycogen Storage Disease Iii AGL Agl hom early 57.545 HP:0001714,HP:0002240,HP:0001943,HP:0003236,HP:0003077,HP:0001638 MP:0002968,MP:0010090,MP:0005343,MP:0002941,MP:0005560,MP:0005178,MP:0002833,MP:0013279,MP:0008806,MP:0005344,MP:0008810,MP:0005293,MP:0003917 OMIM:232800 Glycogen Storage Disease Vii PFKM Pfkm het early 28.075 HP:0001081,HP:0000952 MP:0000601,MP:0002059,MP:0001157,MP:0000598,MP:0001148,MP:0001146 OMIM:233300 Ovarian Dysgenesis 1 FSHR Fshr hom early 45.46 HP:0000939 MP:0000063,MP:0010124 OMIM:233400 Perrault Syndrome 1 HSD17B4 Hsd17b4 het late 28.85 HP:0000837,HP:0000133 MP:0002637,MP:0002059 OMIM:233400 Perrault Syndrome 1 HSD17B4 Hsd17b4 hom early 41.16 HP:0001251,HP:0000837,HP:0000407,HP:0002066,HP:0000133,HP:0000218,HP:0002080 MP:0001513,MP:0000642,MP:0004738,MP:0002637,MP:0002100,MP:0001406 OMIM:233690 Granulomatous Disease, Chronic, Autosomal Recessive, 4 CYBA Cyba hom early 23.88 HP:0100523,HP:0001744,HP:0003203,HP:0002955,HP:0005224 MP:0002599,MP:0000218 OMIM:233700 Granulomatous Disease, Chronic, Autosomal Recessive, 1 NCF1 Ncf1 hom early 41.705 HP:0001744,HP:0002840,HP:0002240,HP:0002716 MP:0002339,MP:0000702,MP:0003068 OMIM:233700 Granulomatous Disease, Chronic, Autosomal Recessive, 1 NCF1 Ncf1 hom late 42.505 HP:0002240,HP:0100523,HP:0002840,HP:0001744,HP:0006532,HP:0002716,HP:0003203,HP:0002955 MP:0001175,MP:0000691,MP:0000689 OMIM:233710 Granulomatous Disease, Chronic, Autosomal Recessive, 2 NCF2 Ncf2 hom early 28.495 HP:0100523,HP:0001744,HP:0003203,HP:0002955,HP:0005224 MP:0012765,MP:0000221,MP:0008040,MP:0004974,MP:0008045,MP:0005018,MP:0002599,MP:0012767 OMIM:234200 Neurodegeneration With Brain Iron Accumulation 1 PANK2 Pank2 hom early 30.505 HP:0000752,HP:0001927,HP:0000648,HP:0100035,HP:0000716,HP:0002015,HP:0008770,HP:0100034 MP:0008079,MP:0004738,MP:0000689,MP:0010850,MP:0020421 OMIM:235400 Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 CFH Cfh hom early 38.625 HP:0001923,HP:0003077,HP:0001981,HP:0003259,HP:0001937,HP:0003138,HP:0001873 MP:0005561,MP:0001554 OMIM:235510 Hennekam Lymphangiectasia-Lymphedema Syndrome 1 CCBE1 Ccbe1 het early 15.43 HP:0000028 MP:0004906,MP:0001120 OMIM:235510 Hennekam Lymphangiectasia-Lymphedema Syndrome 1 CCBE1 Ccbe1 hom embryo 37.945 HP:0001790,HP:0001004,HP:0100539,HP:0001698,HP:0001537,HP:0002202,HP:0003298 MP:0001785,MP:0003231,MP:0001711 OMIM:235555 Bile Acid Synthesis Defect, Congenital, 2 AKR1D1 Akr1d1 hom early 20.73 HP:0001744,HP:0002240 MP:0002833 OMIM:236500 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly CEP55 Cep55 het late 35.97 HP:0004691,HP:0000107,HP:0012725,HP:0000089,HP:0012300,HP:0004209,HP:0001156 MP:0000157,MP:0002989 OMIM:236500 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly CEP55 Cep55 hom early 25.91 HP:0003811,HP:0003826 MP:0011100,MP:0011110 OMIM:236680 Hydrolethalus Syndrome 1 HYLS1 Hyls1 het early 33.7 HP:0001629,HP:0001177,HP:0001162,HP:0010066,HP:0001674,HP:0009824,HP:0006379,HP:0001762 MP:0004357,MP:0002833 OMIM:236680 Hydrolethalus Syndrome 1 HYLS1 Hyls1 hom early 19.15 HP:0003826 MP:0011100 OMIM:236680 Hydrolethalus Syndrome 1 HYLS1 Hyls1 hom embryo 29.945 HP:0001629,HP:0001674,HP:0002323,HP:0003826,HP:0001511 MP:0013294,MP:0000269,MP:0001697,MP:0001700,MP:0003984 OMIM:237300 Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To CPS1 Cps1 het early 25.3 HP:0001987,HP:0003572,HP:0005961,HP:0001951 MP:0005178,MP:0005628,MP:0001556 OMIM:237500 Dubin-Johnson Syndrome ABCC2 Abcc2 hom early 64.07 HP:0002908 MP:0005343,MP:0002941,MP:0005178,MP:0001556,MP:0005344 OMIM:238320 Leydig Cell Hypoplasia, Type I LHCGR Lhcgr hom early 17.68 HP:0000837 MP:0000706 OMIM:238700 Hyperlysinemia, Type I AASS Aass hom early 13.33 HP:0003297 MP:0011874 OMIM:238970 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome SLC25A15 Slc25a15 het early 30.22 HP:0001289,HP:0034464 MP:0002135,MP:0001417 OMIM:239000 Paget Disease Of Bone 5, Juvenile-Onset TNFRSF11B Tnfrsf11b hom early 60.55 HP:0000938,HP:0033355,HP:0011001,HP:0002757,HP:0031013,HP:0003260,HP:0000407,HP:0000939,HP:0002150,HP:0002905,HP:0002149,HP:0003080,HP:0000365 MP:0002968,MP:0003795,MP:0000063,MP:0001566,MP:0003068,MP:0004738,MP:0010124,MP:0002135 OMIM:239200 Hyperparathyroidism, Neonatal Severe CASR Casr het early 56.135 HP:0003761,HP:0002240,HP:0003072,HP:0001744,HP:0008200,HP:0002148 MP:0000194,MP:0001944,MP:0001566 OMIM:240300 Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia AIRE Aire hom early 30.86 HP:0001746,HP:0030629,HP:0000580 MP:0001325,MP:0000220 OMIM:240600 Glycogen Storage Disease 0, Liver GYS2 Gys2 hom early 48.3 HP:0011998,HP:0001998,HP:0003162 MP:0005560 OMIM:240800 Hypoglycemia, Leucine-Induced ABCC8 Abcc8 hom early 38.405 HP:0001943,HP:0000825 MP:0005293 OMIM:240900 Hypoinsulinemic Hypoglycemia With Hemihypertrophy AKT2 Akt2 het early 34.53 HP:0001956,HP:0001513,HP:0001520 MP:0003961,MP:0003960,MP:0001262 OMIM:240900 Hypoinsulinemic Hypoglycemia With Hemihypertrophy AKT2 Akt2 hom early 50.355 HP:0001943,HP:0001520,HP:0001513,HP:0001956,HP:0003162,HP:0040216,HP:0001998 MP:0002078,MP:0003961,MP:0001262,MP:0005559,MP:0003960 OMIM:241520 Hypophosphatemic Rickets, Autosomal Recessive, 1 DMP1 Dmp1 hom early 63.225 HP:0011001,HP:0001363,HP:0002748,HP:0002148,HP:0004912 MP:0002968,MP:0003795,MP:0000063,MP:0000198,MP:0010124 OMIM:241600 Immunodeficiency 43 B2M B2m het early 23.105 HP:0003075,HP:0025347,HP:0003073 MP:0001566 OMIM:241800 Pallister-Hall-Like Syndrome SMO Smo hom embryo 11.74 HP:0002085 MP:0001672,MP:0001700 OMIM:242500 Ichthyosis, Congenital, Autosomal Recessive 4B ABCA12 Abca12 hom early 26.485 HP:0003811 MP:0011100 OMIM:242840 Vici Syndrome EPG5 Epg5 hom early 47.485 HP:0001712,HP:0003236,HP:0000347,HP:0001635,HP:0001644,HP:0002015,HP:0001638,HP:0001882,HP:0005403,HP:0000777,HP:0001875,HP:0005407,HP:0001888 MP:0002968,MP:0002941,MP:0005343,MP:0012362,MP:0002626,MP:0004952,MP:0005013,MP:0002606,MP:0010067,MP:0008806,MP:0005419,MP:0002764,MP:0001399,MP:0008810,MP:0000220,MP:0000219,MP:0005016,MP:0000218 OMIM:242860 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 DNMT3B Dnmt3b hom embryo 26.465 HP:0000158,HP:0002024,HP:0004322,HP:0010808 MP:0000111,MP:0003984 OMIM:242900 Schimke Immunoosseous Dysplasia SMARCAL1 Smarcal1 hom early 32.745 HP:0001876,HP:0002843,HP:0001903,HP:0001875,HP:0001888,HP:0001873 MP:0005564 OMIM:243150 Gastrointestinal Defects And Immunodeficiency Syndrome 1 TTC7A Ttc7 het early 17.27 HP:0001539,HP:0006297 MP:0010024 OMIM:243300 Cholestasis, Benign Recurrent Intrahepatic, 1 ATP8B1 Atp8b1 hom early 20.99 HP:0002240,HP:0000365 MP:0004738,MP:0011874 OMIM:243300 Cholestasis, Benign Recurrent Intrahepatic, 1 ATP8B1 Atp8b1 hom late 49.065 HP:0002908,HP:0012202 MP:0002968,MP:0005343,MP:0002941,MP:0000186,MP:0005627,MP:0005344 OMIM:244450 Kaufman Oculocerebrofacial Syndrome UBE3B Ube3b hom early 47.94 HP:0001508,HP:0003146 MP:0001262,MP:0005179,MP:0000186,MP:0000183 OMIM:244450 Kaufman Oculocerebrofacial Syndrome UBE3B Ube3b het early 38.55 HP:0000482,HP:0000543,HP:0000483 MP:0001312,MP:0011960,MP:0001303,MP:0001322,MP:0003733,MP:0001307,MP:0004222,MP:0011962 OMIM:245349 Pyruvate Dehydrogenase E3-Binding Protein Deficiency PDHX Pdhx het early 31.485 HP:0000648 MP:0002792,MP:0001289,MP:0011965,MP:0002699,MP:0010097,MP:0001325 OMIM:245400 Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) SUCLG1 Suclg1 hom early 23.835 HP:0003811 MP:0011100 OMIM:245400 Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) SUCLG1 Suclg1 hom embryo 22.295 HP:0003811 MP:0013293 OMIM:246700 Chylomicron Retention Disease SAR1B Sar1b het early 68.23 HP:0003563,HP:0002570,HP:0003073,HP:0003146,HP:0012153 MP:0000186,MP:0005179,MP:0005419,MP:0005632,MP:0002942,MP:0000183 OMIM:248190 Hypomagnesemia 5, Renal, With Or Without Ocular Involvement CLDN19 Cldn19 hom early 29.01 HP:0002917 MP:0005633 OMIM:248250 Hypomagnesemia 3, Renal CLDN16 Cldn16 hom early 35.88 HP:0002149,HP:0002917 MP:0005553,MP:0000194,MP:0008806 OMIM:248340 3Mc Syndrome 3 COLEC10 Colec10 hom early 27.345 HP:0000048,HP:0000960,HP:0000028,HP:0030084,HP:0100258,HP:0002974,HP:0000054,HP:0000808 MP:0002764,MP:0000137,MP:0001120 OMIM:248370 Mandibuloacral Dysplasia With Type A Lipodystrophy LMNA Lmna het early 40.875 HP:0040270,HP:0200021,HP:0000347,HP:0002673,HP:0000831,HP:0000842,HP:0000894,HP:0009839,HP:0012385,HP:0003074,HP:0001870,HP:0009882 MP:0005292,MP:0002764 OMIM:248500 Mannosidosis, Alpha B, Lysosomal MAN2B1 Man2b1 hom early 23.56 HP:0002070,HP:0002066 MP:0001402 OMIM:248700 Marden-Walker Syndrome PIEZO2 Piezo2 hom embryo 19.235 HP:0001511 MP:0001697 OMIM:249000 Meckel Syndrome, Type 1 MKS1 Mks1 het early 23.57 HP:0004639 MP:0010090 OMIM:250400 Metaphyseal Dysplasia, Spahr Type MMP13 Mmp13 hom early 65.305 HP:0006409,HP:0100255,HP:0002979,HP:0004979,HP:0005871,HP:0003016,HP:0002857,HP:0006385 MP:0002764 OMIM:250620 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency HIBCH Hibch het early 12.345 HP:0003355 MP:0002135 OMIM:251110 Methylmalonic Aciduria, Cblb Type MMAB Mmab het early 16.885 HP:0002240,HP:0001876,HP:0001903,HP:0001875,HP:0001873 MP:0000689 OMIM:251300 Galloway-Mowat Syndrome 1 WDR73 Wdr73 het early 17.765 HP:0003073 MP:0000195 OMIM:251450 Desbuquois Dysplasia 1 CANT1 Cant1 het early 26.295 HP:0001087 MP:0001303 OMIM:251880 Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) DGUOK Dguok hom early 15.165 HP:0001508 MP:0003961 OMIM:251900 Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy FDX2 Fdx2 hom late 37.405 HP:0002240,HP:0002919,HP:0001935,HP:0000158,HP:0003535,HP:0001875,HP:0002913 MP:0001586,MP:0000691,MP:0012360,MP:0003271,MP:0004952,MP:0000598,MP:0004002,MP:0000689,MP:0005563,MP:0003917 OMIM:252160 Molybdenum Cofactor Deficiency, Complementation Group B MOCS2 Mocs2 het early 17.35 HP:0003537 MP:0005634 OMIM:252160 Molybdenum Cofactor Deficiency, Complementation Group B MOCS2 Mocs2 hom early 20.985 HP:0003811 MP:0011100 OMIM:252500 Mucolipidosis Ii Alpha/Beta GNPTAB Gnptab het early 48.265 HP:0002240,HP:0001640,HP:0001744,HP:0008155,HP:0007759,HP:0000485,HP:0000105 MP:0003068,MP:0001304,MP:0002135 OMIM:252500 Mucolipidosis Ii Alpha/Beta GNPTAB Gnptab het late 43.83 HP:0002240,HP:0001640,HP:0001744,HP:0000158,HP:0008155,HP:0001639,HP:0000105 MP:0000702,MP:0000691,MP:0002188,MP:0000274,MP:0000266,MP:0004832,MP:0002691,MP:0002339,MP:0000470,MP:0002989,MP:0000689,MP:0002135 OMIM:252500 Mucolipidosis Ii Alpha/Beta GNPTAB Gnptab hom embryo 19.765 HP:0002196,HP:0001537 MP:0004258,MP:0003231,MP:0001711 OMIM:252600 Mucolipidosis Iii Alpha/Beta GNPTAB Gnptab het early 29.77 HP:0007759,HP:0000546,HP:0000484 MP:0001304,MP:0002699 OMIM:252605 Mucolipidosis Iii Gamma GNPTG Gnptg hom early 33.835 HP:0003333,HP:0007759 MP:0002968,MP:0001304 OMIM:252900 Mucopolysaccharidosis, Type Iiia SGSH Sgsh hom early 41.445 HP:0000023,HP:0001387,HP:0001744,HP:0001537,HP:0000250 MP:0005505,MP:0000062,MP:0010123,MP:0010025 OMIM:252930 Mucopolysaccharidosis, Type Iiic HGSNAT Hgsnat hom early 33.395 HP:0002240,HP:0002159,HP:0001744,HP:0002788,HP:0002333,HP:0100790,HP:0000250 MP:0001175,MP:0000702,MP:0010025,MP:0010123,MP:0011874,MP:0001417 OMIM:253250 Mulibrey Nanism TRIM37 Trim37 hom early 38.415 HP:0001640,HP:0001685,HP:0000580,HP:0005132,HP:0006297,HP:0000935 MP:0003795,MP:0000063,MP:0000280,MP:0010024,MP:0001325,MP:0010580,MP:0010124 OMIM:253270 Holocarboxylase Synthetase Deficiency HLCS Hlcs het early 20.45 HP:0001987 MP:0000195,MP:0000198 OMIM:253290 Multiple Pterygium Syndrome, Lethal Type CHRND Chrnd het embryo 31.74 HP:0001511 MP:0003984 OMIM:253310 Lethal Congenital Contracture Syndrome 1 GLE1 Gle1 hom early 24.68 HP:0003811 MP:0011100 OMIM:254090 Ullrich Congenital Muscular Dystrophy 1 COL6A3 Col6a3 hom early 16.37 HP:0008180 MP:0000182 OMIM:254800 Myoclonic Epilepsy Of Unverricht And Lundborg CSTB Cstb hom early 37.17 HP:0002392,HP:0010850,HP:0001251,HP:0011182 MP:0004738,MP:0002574 OMIM:254900 Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure SCARB2 Scarb2 hom early 41.56 HP:0100820,HP:0000083,HP:0000093,HP:0000100,HP:0001895,HP:0000097,HP:0003073,HP:0000112,HP:0001873 MP:0005565,MP:0005505,MP:0000194,MP:0005013,MP:0002591,MP:0003068,MP:0000219,MP:0000223,MP:0000218 OMIM:255700 Myotonia Congenita, Autosomal Recessive CLCN1 Clcn1 hom early 20.805 HP:0002015 MP:0020870 OMIM:256050 Atelosteogenesis, Type Ii SLC26A2 Slc26a2 hom early 25.05 HP:0003826 MP:0011100 OMIM:256050 Atelosteogenesis, Type Ii SLC26A2 Slc26a2 hom embryo 30.21 HP:0001852,HP:0002983,HP:0003864,HP:0000175,HP:0005819,HP:0001762,HP:0009826,HP:0001234,HP:0006375 MP:0009908,MP:0002109 OMIM:256450 Hyperinsulinemic Hypoglycemia, Familial, 1 ABCC8 Abcc8 hom early 45.18 HP:0000825,HP:0002173,HP:0001520 MP:0003960,MP:0005293 OMIM:256520 Neu-Laxova Syndrome 1 PHGDH Phgdh hom early 20.04 HP:0003811,HP:0003826 MP:0011100 OMIM:256520 Neu-Laxova Syndrome 1 PHGDH Phgdh hom embryo 44.235 HP:0002414,HP:0001561,HP:0001643,HP:0001511,HP:0003826,HP:0001196,HP:0006266,HP:0011451,HP:0002324,HP:0000568,HP:0003811,HP:0001321,HP:0001305,HP:0007430 MP:0001297,MP:0001672,MP:0011496,MP:0002080,MP:0003229,MP:0001785,MP:0001718,MP:0001697,MP:0000841,MP:0001700,MP:0003984 OMIM:256540 Galactosialidosis CTSA Ctsa hom early 37.205 HP:0000524,HP:0003271,HP:0001433 MP:0002590,MP:0005333,MP:0000691,MP:0010506,MP:0005561,MP:0005287,MP:0003179,MP:0004952,MP:0002833,MP:0002875,MP:0002874,MP:0000208,MP:0000220 OMIM:256700 Neuroblastoma, Susceptibility To, 1 KIF1B Kif1b het early 31.695 HP:0001251,HP:0001903 MP:0002574,MP:0005641 OMIM:256700 Neuroblastoma, Susceptibility To, 1 KIF1B Kif1b hom embryo 20.29 HP:0000822 MP:0001914 OMIM:256810 Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) MPV17 Mpv17 hom early 37.2 HP:0002240,HP:0001988,HP:0001943 MP:0002833,MP:0005560 OMIM:257220 Niemann-Pick Disease, Type C1 NPC1 Npc1 het early 36.595 HP:0001744,HP:0001982,HP:0004333,HP:0001332 MP:0000220,MP:0001488 OMIM:257220 Niemann-Pick Disease, Type C1 NPC1 Npc1 het early 26.135 HP:0000726 MP:0001417 OMIM:257270 Night Blindness, Congenital Stationary, Type 1B GRM6 Grm6 hom early 20.24 HP:0007642,HP:0007737 MP:0006243 OMIM:257920 3Mc Syndrome 1 MASP1 Masp1 hom early 9.73 HP:0000524 MP:0005333,MP:0010506 OMIM:257980 Odontoonychodermal Dysplasia WNT10A Wnt10a hom early 37.2 HP:0001807,HP:0002209,HP:0011359,HP:0007556,HP:0001816,HP:0001799,HP:0045075,HP:0000972,HP:0002213,HP:0007410,HP:0002164,HP:0001798,HP:0008391,HP:0002231,HP:0001810 MP:0002764,MP:0000367,MP:0002075 OMIM:258150 Spermatogenic Failure 1 SYCP2 Sycp2 hom early 53.66 HP:0003251,HP:0030974,HP:0000798 MP:0001147 OMIM:258860 Orofaciodigital Syndrome Iv TCTN3 Tctn3 hom embryo 51.04 HP:0001770,HP:0100259,HP:0001161,HP:0001829,HP:0009381,HP:0005736,HP:0030084,HP:0001156 MP:0000562 OMIM:259420 Osteogenesis Imperfecta, Type Iii COL1A2 Col1a2 hom early 46.87 HP:0002757,HP:0005897,HP:0003179,HP:0005855,HP:0002982,HP:0003100,HP:0005474,HP:0003023,HP:0000703 MP:0000062,MP:0000558,MP:0010025,MP:0010123,MP:0000559 OMIM:259450 Bruck Syndrome 1 FKBP10 Fkbp10 het early 38.18 HP:0001388,HP:0003273,HP:0006466,HP:0000939,HP:0002987,HP:0002659,HP:0006380 MP:0002896 OMIM:259500 Osteogenic Sarcoma TP53 Trp53 hom early 19.945 HP:0009919 MP:0001325 OMIM:259600 Multicentric Osteolysis, Nodulosis, And Arthropathy MMP2 Mmp2 hom early 35.765 HP:0000938,HP:0008011,HP:0007957,HP:0000939,HP:0001634,HP:0006234,HP:0001473,HP:0001504,HP:0001495,HP:0002753 MP:0000274,MP:0001304,MP:0003795,MP:0000266 OMIM:259600 Multicentric Osteolysis, Nodulosis, And Arthropathy MMP2 Mmp2 hom late 30.135 HP:0000938,HP:0000939,HP:0006234,HP:0001473,HP:0001504,HP:0001495,HP:0002753 MP:0010124 OMIM:259775 Raine Syndrome FAM20C Fam20c het early 18.74 HP:0000072,HP:0000126 MP:0002135 OMIM:259775 Raine Syndrome FAM20C Fam20c hom early 21.23 HP:0003811 MP:0011100,MP:0011110 OMIM:260350 Pancreatic Cancer ACVR1B Acvr1b het early 19.805 HP:0002894 MP:0001147,MP:0002768 OMIM:260370 Pancreatic Agenesis 1 PDX1 Pdx1 het early 33.19 HP:0000857 MP:0005293 OMIM:260500 Papilloma Of Choroid Plexus TP53 Trp53 hom early 27.76 HP:0001085 MP:0001325,MP:0001289 OMIM:260540 Parkinson-Dementia Syndrome MAPT Mapt hom early 33.485 HP:0000726 MP:0001417 OMIM:261000 Intrinsic Factor Deficiency CBLIF Cblif hom early 62.355 HP:0031965,HP:0001889,HP:0005518,HP:0200143,HP:0020181 MP:0000194,MP:0008821,MP:0002591 OMIM:261500 Eosinophil Peroxidase Deficiency EPX Epx hom early 33.45 HP:0034253 MP:0000220 OMIM:261515 D-Bifunctional Protein Deficiency HSD17B4 Hsd17b4 het late 20.76 HP:0002240,HP:0001744,HP:0000107,HP:0001408,HP:0033643 MP:0005632,MP:0000274,MP:0002059,MP:0011874 OMIM:261515 D-Bifunctional Protein Deficiency HSD17B4 Hsd17b4 hom early 35.915 HP:0002240,HP:0000347,HP:0000762,HP:0001744,HP:0001171,HP:0008207,HP:0001396,HP:0001765,HP:0001408,HP:0000218,HP:0000369,HP:0000343,HP:0000278,HP:0001397,HP:0000365 MP:0000157,MP:0000642,MP:0004738,MP:0000689,MP:0002100 OMIM:261600 Phenylketonuria PAH Pah het early 36.585 HP:0000737,HP:0007018,HP:0000716 MP:0001417 OMIM:261600 Phenylketonuria PAH Pah hom early 47.785 HP:0002286,HP:0007513,HP:0000518,HP:0000635 MP:0001312,MP:0002075 OMIM:263210 Gillessen-Kaesbach-Nishimura Syndrome ALG9 Alg9 het early 19.72 HP:0001539,HP:0001371,HP:0000776 MP:0010024 OMIM:263520 Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly NEK1 Nek1 hom early 51 HP:0005180,HP:0000556,HP:0001177,HP:0001162,HP:0005766,HP:0003026,HP:0005873,HP:0005817,HP:0000773,HP:0003027,HP:0001156 MP:0004509,MP:0011965,MP:0003731,MP:0002764,MP:0011952 OMIM:263700 Porphyria, Congenital Erythropoietic UROS Uros het early 18.435 HP:0001744,HP:0001878,HP:0001873 MP:0000218 OMIM:264090 Wiedemann-Rautenstrauch Syndrome POLR3A Polr3a het early 22.27 HP:0000040,HP:0000778,HP:0000047 MP:0000702,MP:0002599,MP:0011874 OMIM:264700 Vitamin D Hydroxylation-Deficient Rickets, Type 1A CYP27B1 Cyp27b1 hom early 74.045 HP:0002979,HP:0002663,HP:0000886,HP:0002980,HP:0002982,HP:0002901,HP:0002199,HP:0000920,HP:0010502,HP:0004492,HP:0003025,HP:0003013,HP:0003029,HP:0002757,HP:0002748,HP:0000737,HP:0006297,HP:0003106,HP:0003020,HP:0000893,HP:0002752,HP:0002355,HP:0002148,HP:0002753 MP:0000150,MP:0003795,MP:0010025,MP:0002764,MP:0005298,MP:0000195,MP:0002187,MP:0000558,MP:0001402,MP:0005108,MP:0000149,MP:0004509,MP:0010124,MP:0001417,MP:0002968,MP:0000552,MP:0005343,MP:0002932,MP:0000063,MP:0005296,MP:0000198,MP:0005344,MP:0000559 OMIM:265400 Pulmonary Hypertension, Primary, 5 ATP13A3 Atp13a3 hom early 25.9 HP:0001667 MP:0002833 OMIM:265800 Pycnodysostosis CTSK Ctsk hom early 48.725 HP:0011001,HP:0006660,HP:0000347,HP:0002688,HP:0009839,HP:0002868,HP:0001156 MP:0000062,MP:0002764 OMIM:266120 Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To NT5C3A Nt5c3 hom early 32.43 HP:0001878 MP:0010067 OMIM:266280 Rapadilino Syndrome RECQL4 Recql4 het early 19.025 HP:0045075,HP:0002209,HP:0000653 MP:0000367 OMIM:267000 Perlman Syndrome DIS3L2 Dis3l2 het early 21.35 HP:0001520 MP:0001257 OMIM:267750 Knobloch Syndrome 1 COL18A1 Col18a1 hom early 55.24 HP:0000541,HP:0000543,HP:0001251,HP:0000585,HP:0000533,HP:0000519,HP:0012805,HP:0007773,HP:0001104,HP:0500087,HP:0001132,HP:0009917,HP:0100019,HP:0007843 MP:0008259,MP:0005102,MP:0002792,MP:0001303,MP:0002574,MP:0001319,MP:0010097,MP:0001325,MP:0006241 OMIM:268150 Rh-Null, Regulator Type RHAG Rhag hom early 37.845 HP:0001878,HP:0004446,HP:0008282 MP:0000703,MP:0005568,MP:0000709,MP:0005562 OMIM:268310 Robinow Syndrome, Autosomal Recessive 1 ROR2 Ror2 hom embryo 39.625 HP:0010804,HP:0000678,HP:0004279,HP:0009883,HP:0003083,HP:0002986,HP:0004322,HP:0005011,HP:0000212,HP:0003027,HP:0001537,HP:0005914,HP:0009882,HP:0005648,HP:0006216,HP:0002984,HP:0200055,HP:0000158,HP:0000207,HP:0001853,HP:0011304,HP:0010292,HP:0001156,HP:0001837,HP:0000219,HP:0009177,HP:0000154,HP:0000696,HP:0009466,HP:0000343,HP:0004220,HP:0030084,HP:0010297,HP:0011927 MP:0000562,MP:0000111,MP:0003231,MP:0002109,MP:0001711,MP:0003984 OMIM:268400 Rothmund-Thomson Syndrome, Type 2 RECQL4 Recql4 het early 19.735 HP:0002223,HP:0001596,HP:0002209,HP:0000653,HP:0000561,HP:0045075,HP:0002216,HP:0008404,HP:0008070 MP:0000367 OMIM:268800 Sandhoff Disease HEXB Hexb hom early 35.61 HP:0002267,HP:0001251,HP:0007272,HP:0001433,HP:0002380,HP:0001257,HP:0002493 MP:0005505,MP:0000745,MP:0001406,MP:0001392,MP:0000220,MP:0001417 OMIM:269250 Schneckenbecken Dysplasia SLC35D1 Slc35d1 hom early 23.11 HP:0003826 MP:0011100 OMIM:269250 Schneckenbecken Dysplasia SLC35D1 Slc35d1 hom embryo 47.82 HP:0001790,HP:0001561,HP:0000947,HP:0004233,HP:0000175,HP:0008108,HP:0001776,HP:0009826,HP:0001537,HP:0011800,HP:0003025,HP:0001156 MP:0011495,MP:0009908,MP:0000111,MP:0001785,MP:0001697,MP:0002109 OMIM:269700 Lipodystrophy, Congenital Generalized, Type 2 BSCL2 Bscl2 hom early 54.6 HP:0003758,HP:0002833,HP:0002155,HP:0009125,HP:0040217,HP:0025128,HP:0001744,HP:0000842,HP:0003809,HP:0000877,HP:0001176,HP:0005978,HP:0001537,HP:0001833,HP:0002591 MP:0003795,MP:0002590,MP:0005568,MP:0013279,MP:0010025,MP:0011939,MP:0002764,MP:0002965,MP:0002941,MP:0000194,MP:0005178,MP:0002875,MP:0001566,MP:0010124,MP:0002968,MP:0005343,MP:0012362,MP:0005561,MP:0001556,MP:0005292,MP:0000220,MP:0011941,MP:0000219,MP:0005559 OMIM:270100 Heterotaxy, Visceral, 5, Autosomal NODAL Nodal het early 14.46 HP:0001746,HP:0011699 MP:0005542,MP:0012362 OMIM:270300 Peeling Skin Syndrome 1 CDSN Cdsn het early 17.095 HP:0001880 MP:0005561,MP:0005641 OMIM:270400 Smith-Lemli-Opitz Syndrome DHCR7 Dhcr7 het early 39.075 HP:0000074,HP:0002240,HP:0001629,HP:0000047,HP:0000122,HP:0001744,HP:0000089,HP:0000107,HP:0000054,HP:0002611,HP:0001394,HP:0001631,HP:0001639,HP:0001397,HP:0000126,HP:0000808 MP:0000691,MP:0000274,MP:0000266,MP:0002989,MP:0000689,MP:0002135 OMIM:270400 Smith-Lemli-Opitz Syndrome DHCR7 Dhcr7 hom embryo 28.04 HP:0001510,HP:0001511,HP:0004322 MP:0003984 OMIM:270550 Spastic Ataxia, Charlevoix-Saguenay Type SACS Sacs het early 13.735 HP:0000012 MP:0002135 OMIM:270550 Spastic Ataxia, Charlevoix-Saguenay Type SACS Sacs hom early 18.695 HP:0001765,HP:0006150 MP:0000157 OMIM:270685 Spastic Paraplegia 17, Autosomal Dominant BSCL2 Bscl2 hom early 32.105 HP:0001171,HP:0001761,HP:0002064 MP:0001406,MP:0001402,MP:0002764 OMIM:270700 Spastic Paraplegia 15, Autosomal Recessive ZFYVE26 Zfyve26 hom early 24.015 HP:0001251,HP:0002064 MP:0002574 OMIM:270800 Spastic Paraplegia 5A, Autosomal Recessive CYP7B1 Cyp7b1 hom early 25.995 HP:0000648 MP:0011965 OMIM:271900 Canavan Disease ASPA Aspa hom early 24.665 HP:0032273,HP:0002179 MP:0002968,MP:0001513,MP:0001489 OMIM:271930 Striatonigral Degeneration, Infantile NUP62 Nup62 het early 32.925 HP:0000648 MP:0003733,MP:0011965 OMIM:272200 Multiple Sulfatase Deficiency SUMF1 Sumf1 het early 19.93 HP:0001744,HP:0002240 MP:0000274 OMIM:272460 Spondylocarpotarsal Synostosis Syndrome FLNB Flnb het early 19.625 HP:0002948,HP:0000023,HP:0003305,HP:0008368,HP:0001241,HP:0009702,HP:0006297,HP:0001377 MP:0000063,MP:0010024 OMIM:273750 Three M Syndrome 1 CUL7 Cul7 het early 19.76 HP:0001382 MP:0000063 OMIM:273900 Thrombocytopenia 3 FYB1 Fyb1 hom early 48.285 HP:0001873,HP:0005537 MP:0003179 OMIM:274270 Dihydropyrimidine Dehydrogenase Deficiency DPYD Dpyd hom early 50.25 HP:0000752 MP:0001399,MP:0002574 OMIM:274900 Thyroid Dyshormonogenesis 5 DUOXA2 Duoxa2 hom early 14.225 HP:0000821,HP:0000853 MP:0005478 OMIM:275900 Spastic Paraplegia 20, Autosomal Recessive SPART Spart hom early 30.55 HP:0000712 MP:0001417 OMIM:276300 Mismatch Repair Cancer Syndrome 1 MLH1 Mlh1 hom early 11.28 HP:0001909 MP:0004952 OMIM:276700 Tyrosinemia, Type I FAH Fah het early 57.12 HP:0006554,HP:0002240,HP:0002910,HP:0000083,HP:0001744,HP:0000121,HP:0001541,HP:0001639,HP:0001994,HP:0004510,HP:0001394,HP:0001402,HP:0000096,HP:0000105,HP:0001399,HP:0001903,HP:0003163 MP:0000601,MP:0000691,MP:0000274,MP:0000266,MP:0000598,MP:0003068,MP:0002989,MP:0000689,MP:0002135 OMIM:276700 Tyrosinemia, Type I FAH Fah het embryo 15.99 HP:0001510 MP:0003984 OMIM:276700 Tyrosinemia, Type I FAH Fah hom embryo 24.165 HP:0001541 MP:0001785 OMIM:276902 Usher Syndrome, Type Iiia CLRN1 Clrn1 hom early 22.76 HP:0000407 MP:0004738 OMIM:277380 Methylmalonic Aciduria And Homocystinuria, Cblf Type LMBRD1 Lmbrd1 het early 32.905 HP:0001876,HP:0001889,HP:0001903,HP:0001875,HP:0001873 MP:0005562 OMIM:277400 Methylmalonic Aciduria And Homocystinuria, Cblc Type MMACHC Mmachc het early 13.825 HP:0000083,HP:0000093,HP:0005575,HP:0003153,HP:0012120,HP:0000790,HP:0000112,HP:0002156 MP:0002989 OMIM:277590 Weaver Syndrome EZH2 Ezh2 het early 23.015 HP:0002808,HP:0002650 MP:0004650 OMIM:280000 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome PIGL Pigl het early 15.435 HP:0002553,HP:0002213,HP:0002557,HP:0008070,HP:0005338 MP:0002098 OMIM:300000 Opitz Gbbb Syndrome MID1 Mid1 hem early 23.58 HP:0000047,HP:0025407,HP:0010957,HP:0000076,HP:0000054 MP:0002135,MP:0003604,MP:0003068 OMIM:300000 Opitz Gbbb Syndrome MID1 Mid1 het early 24.985 HP:0000023,HP:0001629,HP:0000047,HP:0025407,HP:0010957,HP:0002015,HP:0000076,HP:0001537,HP:0000054 MP:0002833,MP:0010025,MP:0002989,MP:0002135,MP:0020421 OMIM:300018 46,Xy Sex Reversal 2 NR0B1 Nr0b1 hem early 30.035 HP:0012245 MP:0002160 OMIM:300071 Night Blindness, Congenital Stationary, Type 2A CACNA1F Cacna1f hom early 20.355 HP:0007642 MP:0001333 OMIM:300100 Adrenoleukodystrophy ABCD1 Abcd1 hem early 19.5 HP:0003455 MP:0008821 OMIM:300200 Adrenal Hypoplasia, Congenital NR0B1 Nr0b1 hem early 41.535 HP:0002902,HP:0008163,HP:0000044,HP:0000826,HP:0000028,HP:0000798,HP:0000027 MP:0000182,MP:0002968,MP:0010092,MP:0008810,MP:0002160,MP:0002965 OMIM:300271 Intellectual Developmental Disorder, X-Linked 72 RAB39B Rab39b hom early 39.215 HP:0000752,HP:0000733 MP:0020420 OMIM:300280 Uruguay Faciocardiomusculoskeletal Syndrome FHL1 Fhl1 hom early 19.51 HP:0003236,HP:0032232 MP:0005179 OMIM:300322 Lesch-Nyhan Syndrome HPRT1 Hprt1 hem early 33.215 HP:0001266,HP:0002149,HP:0001889 MP:0002590,MP:0003179,MP:0002875,MP:0001556,MP:0001406 OMIM:300322 Lesch-Nyhan Syndrome HPRT1 Hprt1 hom early 28.885 HP:0001889 MP:0002590,MP:0002875 OMIM:300323 Hyperuricemia, Hprt-Related HPRT1 Hprt1 hem early 17.87 HP:0002149 MP:0001556 OMIM:300376 Muscular Dystrophy, Becker Type DMD Dmd hem early 45.95 HP:0003236 MP:0005343,MP:0002941 OMIM:300376 Muscular Dystrophy, Becker Type DMD Dmd hom early 47.965 HP:0003236 MP:0002968,MP:0005343,MP:0002941,MP:0005568,MP:0002965 OMIM:300425 Autism, Susceptibility To, X-Linked 1 NLGN3 Nlgn3 hem early 59.235 HP:0000723,HP:0000733,HP:0000732 MP:0001399 OMIM:300425 Autism, Susceptibility To, X-Linked 1 NLGN3 Nlgn3 hom early 63.745 HP:0000723,HP:0000733,HP:0000732 MP:0001399,MP:0001364 OMIM:300476 Cone-Rod Dystrophy, X-Linked, 3 CACNA1F Cacna1f hom early 42.5 HP:0000548,HP:0000541,HP:0000543,HP:0030825,HP:0008002 MP:0001333 OMIM:300600 Aland Island Eye Disease CACNA1F Cacna1f hom early 35.35 HP:0007750 MP:0001333 OMIM:300635 Lymphoproliferative Syndrome, X-Linked, 2 XIAP Xiap hom early 39.99 HP:0004313 MP:0008499 OMIM:300676 Intellectual Developmental Disorder, X-Linked, Syndromic 14 UPF3B Upf3b hom early 16.035 HP:0000218 MP:0000470 OMIM:300695 Scapuloperoneal Myopathy, X-Linked Dominant FHL1 Fhl1 hom early 21.455 HP:0003236 MP:0005179 OMIM:300696 Myopathy, X-Linked, With Postural Muscle Atrophy FHL1 Fhl1 hom early 21.48 HP:0003236 MP:0005179 OMIM:300707 Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations CCNQ Ccnq het embryo 30.095 HP:0001511,HP:0003298,HP:0004322 MP:0001697,MP:0003984 OMIM:300717 Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset FHL1 Fhl1 hom early 23.455 HP:0003236 MP:0005179 OMIM:300718 Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset FHL1 Fhl1 hom early 22.015 HP:0003236 MP:0005179 OMIM:300755 Agammaglobulinemia, X-Linked BTK Btk hem early 41.65 HP:0005403,HP:0010976,HP:0001903,HP:0001875 MP:0008211,MP:0008074,MP:0002875,MP:0008078 OMIM:300830 Autism, Susceptibility To, X-Linked 4 PTCHD1 Ptchd1 hem early 70.67 HP:0100034,HP:0007018,HP:0100710,HP:0000718 MP:0001399,MP:0002574,MP:0001415 OMIM:300830 Autism, Susceptibility To, X-Linked 4 PTCHD1 Ptchd1 hom early 79.775 HP:0100034,HP:0100710,HP:0007018,HP:0000718 MP:0001399,MP:0001454,MP:0001469,MP:0001415 OMIM:300842 Mcleod Syndrome XK Xk hom early 37.585 HP:0020181,HP:0003236 MP:0005343,MP:0002941 OMIM:300855 Ogden Syndrome NAA10 Naa10 hem early 49.37 HP:0004737,HP:0009800,HP:0001640,HP:0045075,HP:0000028,HP:0001873,HP:0000952,HP:0001414,HP:0002213,HP:0000034,HP:0001891,HP:0000527,HP:0001403,HP:0000113,HP:0001901,HP:0008734,HP:0000105 MP:0001147,MP:0002075,MP:0003068,MP:0000689,MP:0002989,MP:0002135,MP:0001146,MP:0000692 OMIM:300855 Ogden Syndrome NAA10 Naa10 hem late 50.63 HP:0001647,HP:0009800,HP:0001640,HP:0001684,HP:0001414,HP:0001403,HP:0001631,HP:0001655,HP:0004737,HP:0045075,HP:0000028,HP:0011682,HP:0031295,HP:0000527,HP:0000105,HP:0008734,HP:0001629,HP:0000952,HP:0002213,HP:0000034,HP:0000113,HP:0002119 MP:0002834,MP:0002059,MP:0002997,MP:0000598,MP:0002075,MP:0003068,MP:0001891,MP:0002135,MP:0000639 OMIM:300855 Ogden Syndrome NAA10 Naa10 hem middle 27.4 HP:0045075,HP:0000527,HP:0002213 MP:0002075 OMIM:300855 Ogden Syndrome NAA10 Naa10 hom early 29.145 HP:0000023,HP:0045075,HP:0000028,HP:0002213,HP:0000034,HP:0000527,HP:0003717,HP:0002904,HP:0001537,HP:0008734 MP:0002968,MP:0001120,MP:0002075,MP:0010025 OMIM:300855 Ogden Syndrome NAA10 Naa10 hom late 50.515 HP:0001647,HP:0009800,HP:0001640,HP:0001684,HP:0001414,HP:0001891,HP:0001403,HP:0001631,HP:0001655,HP:0001901,HP:0004737,HP:0000028,HP:0011682,HP:0002904,HP:0031295,HP:0008734,HP:0001873,HP:0001629,HP:0000952,HP:0000034,HP:0000113,HP:0000105 MP:0000691,MP:0000274,MP:0000266,MP:0005635,MP:0003068,MP:0005292,MP:0000689,MP:0002135,MP:0001126 OMIM:300855 Ogden Syndrome NAA10 Naa10 hom middle 27.395 HP:0045075,HP:0000527,HP:0002213 MP:0002075 OMIM:300860 Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type UBE2A Ube2a hem early 28.93 HP:0100716,HP:0000718 MP:0001399 OMIM:300882 Cornelia De Lange Syndrome 5 HDAC8 Hdac8 hem early 20.295 HP:0001377 MP:0000063 OMIM:300882 Cornelia De Lange Syndrome 5 HDAC8 Hdac8 hom early 20.375 HP:0001377 MP:0000063 OMIM:300884 Developmental And Epileptic Encephalopathy 36 ALG13 Alg13 hom early 24.055 HP:0001371 MP:0000063,MP:0010024 OMIM:300894 Neurodegeneration With Brain Iron Accumulation 5 WDR45 Wdr45 hem early 35.49 HP:0001337,HP:0012332,HP:0000718,HP:0001332 MP:0001486,MP:0004738,MP:0001399 OMIM:300894 Neurodegeneration With Brain Iron Accumulation 5 WDR45 Wdr45 hem late 27.885 HP:0000718 MP:0001399 OMIM:300912 Intellectual Developmental Disorder, X-Linked 98 NEXMIF Nexmif hem early 43.62 HP:0000752,HP:0025650,HP:0000020,HP:0000718,HP:0100739,HP:0012169,HP:0012172,HP:0003763,HP:0004209,HP:0100023,HP:0001508,HP:0000733,HP:0011927,HP:0012171 MP:0000157,MP:0011874,MP:0003961,MP:0001399 OMIM:300912 Intellectual Developmental Disorder, X-Linked 98 NEXMIF Nexmif het early 44.445 HP:0000752,HP:0025650,HP:0000020,HP:0000718,HP:0100739,HP:0012169,HP:0012172,HP:0003763,HP:0004209,HP:0100023,HP:0000733,HP:0011927,HP:0012171 MP:0000157,MP:0002989,MP:0001399 OMIM:300978 Tonne-Kalscheuer Syndrome RLIM Rlim het early 35.095 HP:0000028,HP:0008734,HP:0001627 MP:0000274,MP:0000266,MP:0000703,MP:0000709 OMIM:300986 Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type HNRNPH2 Hnrnph2 hem early 31.74 HP:0002212 MP:0000367,MP:0001284,MP:0002075 OMIM:300986 Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type HNRNPH2 Hnrnph2 hom early 31.355 HP:0002212 MP:0000367,MP:0002075 OMIM:300988 Immunodeficiency 50 MSN Msn hem early 35.04 HP:0001888,HP:0001875 MP:0000208,MP:0005561,MP:0002875,MP:0002874 OMIM:300988 Immunodeficiency 50 MSN Msn hom early 54.175 HP:0001888,HP:0001875 MP:0002590,MP:0000221,MP:0005561,MP:0003179,MP:0002875,MP:0002874,MP:0000208 OMIM:301006 Galloway-Mowat Syndrome 2, X-Linked LAGE3 Lage3 hem early 19.96 HP:0001166 MP:0000157 OMIM:301008 Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type CNKSR2 Cnksr2 hom early 30.155 HP:0007018 MP:0001415 OMIM:301015 Hemolytic Anemia, Congenital, X-Linked ATP11C Atp11c hem early 43.25 HP:0001878 MP:0002590,MP:0000221,MP:0005561,MP:0002875,MP:0002874,MP:0000208 OMIM:301015 Hemolytic Anemia, Congenital, X-Linked ATP11C Atp11c hom early 39.535 HP:0001878 MP:0000208,MP:0000221,MP:0002875,MP:0002874 OMIM:301050 Alport Syndrome 1, X-Linked COL4A5 Col4a5 hem early 44.235 HP:0000083,HP:0000093,HP:0200020,HP:0003774,HP:0000519,HP:0000100,HP:0011501,HP:0000123,HP:0002907,HP:0001142,HP:0001873 MP:0002135,MP:0001303,MP:0005562,MP:0005505,MP:0001289,MP:0002875,MP:0002591,MP:0002874,MP:0000208,MP:0000218 OMIM:301050 Alport Syndrome 1, X-Linked COL4A5 Col4a5 hom early 38.16 HP:0000083,HP:0000093,HP:0003774,HP:0000100,HP:0002907,HP:0000123,HP:0001873 MP:0000208,MP:0012362,MP:0005505,MP:0004952,MP:0002875,MP:0002874,MP:0010067,MP:0000219,MP:0002135 OMIM:301107 Intellectual Developmental Disorder, X-Linked 111 SLITRK2 Slitrk2 hem early 36.97 HP:0000752,HP:0100035,HP:0000722,HP:0000718 MP:0020870 OMIM:301200 Amelogenesis Imperfecta, Type Ie AMELX Amelx hem early 47.28 HP:0009102,HP:0006297,HP:0010299,HP:0000705 MP:0005270,MP:0030610,MP:0013129,MP:0002100 OMIM:301200 Amelogenesis Imperfecta, Type Ie AMELX Amelx het early 51.05 HP:0009102,HP:0006297,HP:0010299,HP:0000705 MP:0002100 OMIM:301200 Amelogenesis Imperfecta, Type Ie AMELX Amelx hom early 52.915 HP:0009102,HP:0006297,HP:0010299,HP:0000705 MP:0030610,MP:0013129,MP:0002100 OMIM:301900 Borjeson-Forssman-Lehmann Syndrome PHF6 Phf6 het early 33.835 HP:0002353,HP:0000400 MP:0004738 OMIM:302045 Cardiomyopathy, Dilated, 3B DMD Dmd hem early 50.93 HP:0032232 MP:0005343,MP:0002941 OMIM:302045 Cardiomyopathy, Dilated, 3B DMD Dmd hom early 51.565 HP:0032232 MP:0002968,MP:0005343,MP:0002941,MP:0005568,MP:0002965 OMIM:302500 Spinocerebellar Ataxia, X-Linked 1 ATP2B3 Atp2b3 hem late 36.09 HP:0002317,HP:0001251 MP:0001402 OMIM:302500 Spinocerebellar Ataxia, X-Linked 1 ATP2B3 Atp2b3 hom early 28.94 HP:0002015 MP:0020870,MP:0001399 OMIM:302500 Spinocerebellar Ataxia, X-Linked 1 ATP2B3 Atp2b3 hom late 35.54 HP:0002317,HP:0001251 MP:0001402 OMIM:304150 Occipital Horn Syndrome ATP7A Atp7a hem early 27.455 HP:0002208,HP:0003777 MP:0002075 OMIM:304150 Occipital Horn Syndrome ATP7A Atp7a hem late 18.455 HP:0002208,HP:0003777 MP:0000367 OMIM:304150 Occipital Horn Syndrome ATP7A Atp7a hom early 27.455 HP:0002208,HP:0003777 MP:0002075 OMIM:304340 Pettigrew Syndrome AP1S2 Ap1s2 hem early 23.52 HP:0001266,HP:0000648 MP:0006243 OMIM:304340 Pettigrew Syndrome AP1S2 Ap1s2 hom early 26.455 HP:0000718,HP:0002066,HP:0001266,HP:0100716,HP:0012171 MP:0002574 OMIM:305400 Aarskog-Scott Syndrome FGD1 Fgd1 hem embryo 18.795 HP:0003502,HP:0004322,HP:0000823 MP:0003984 OMIM:305400 Aarskog-Scott Syndrome FGD1 Fgd1 het early 15.02 HP:0011969,HP:0008689,HP:0000028,HP:0008232,HP:0000029 MP:0000709 OMIM:306400 Granulomatous Disease, Chronic, X-Linked CYBB Cybb hom early 39.49 HP:0002240,HP:0100523,HP:0002840,HP:0001744,HP:0002716,HP:0003203,HP:0002955,HP:0001541 MP:0004952,MP:0002591 OMIM:307200 Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia BTK Btk hem early 40.07 HP:0030252 MP:0008211,MP:0008074,MP:0002875,MP:0008078 OMIM:307800 Hypophosphatemic Rickets, X-Linked Dominant PHEX Phex hom early 70.2 HP:0008117,HP:0002749,HP:0002979,HP:0004363,HP:0002758,HP:0006285,HP:0002748,HP:0003416,HP:0006432,HP:0002980,HP:0002982,HP:0002857,HP:0002644,HP:0010502,HP:0002148,HP:0004912,HP:0003025,HP:0008144 MP:0002968,MP:0000552,MP:0000063,MP:0004599,MP:0000195,MP:0002896,MP:0000558,MP:0005108,MP:0008805,MP:0000198,MP:0005627,MP:0010123,MP:0010024,MP:0002932,MP:0000137 OMIM:309400 Menkes Disease ATP7A Atp7a hem early 35.265 HP:0008070,HP:0001596,HP:0002299,HP:0001010 MP:0002075 OMIM:309400 Menkes Disease ATP7A Atp7a hem late 22.215 HP:0008070,HP:0001596,HP:0002299 MP:0000367 OMIM:309400 Menkes Disease ATP7A Atp7a hom early 35.265 HP:0008070,HP:0001596,HP:0002299,HP:0001010 MP:0002075 OMIM:309549 Intellectual Developmental Disorder, X-Linked 9 FTSJ1 Ftsj1 hom early 34.42 HP:0000718 MP:0001399 OMIM:309583 Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type SMS Sms hem early 34.13 HP:0001187,HP:0000939,HP:0002757,HP:0002753 MP:0000063,MP:0010124 OMIM:309583 Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type SMS Sms hom early 14.795 HP:0000028 MP:0001925 OMIM:309800 Microphthalmia, Syndromic 1 NAA10 Naa10 hem early 31.395 HP:0000072,HP:0000047,HP:0008678,HP:0000028,HP:0000089 MP:0001147,MP:0003068,MP:0002989,MP:0002135,MP:0001146 OMIM:309800 Microphthalmia, Syndromic 1 NAA10 Naa10 hem late 30.815 HP:0000072,HP:0001647,HP:0000047,HP:0008678,HP:0000028,HP:0000089 MP:0002834,MP:0002059,MP:0002997,MP:0003068,MP:0002135,MP:0000639 OMIM:309800 Microphthalmia, Syndromic 1 NAA10 Naa10 hom early 13.595 HP:0000028,HP:0009473,HP:0000047,HP:0012385 MP:0001120,MP:0010025 OMIM:309800 Microphthalmia, Syndromic 1 NAA10 Naa10 hom late 36.615 HP:0000528,HP:0001647,HP:0000047,HP:0000072,HP:0008678,HP:0000028,HP:0000089,HP:0000568 MP:0001297,MP:0000274,MP:0000266,MP:0003068,MP:0002135,MP:0001126 OMIM:310200 Muscular Dystrophy, Duchenne Type DMD Dmd hem early 39.295 HP:0003236,HP:0001771,HP:0001371,HP:0003089,HP:0006380 MP:0005343,MP:0002941,MP:0010025 OMIM:310200 Muscular Dystrophy, Duchenne Type DMD Dmd hom early 40.905 HP:0003236,HP:0001771,HP:0001371,HP:0003089,HP:0006380 MP:0002968,MP:0005343,MP:0002941,MP:0005568,MP:0010025,MP:0002965 OMIM:310300 Emery-Dreifuss Muscular Dystrophy 1, X-Linked EMD Emd hem early 21.74 HP:0003236 MP:0001566 OMIM:310300 Emery-Dreifuss Muscular Dystrophy 1, X-Linked EMD Emd hom early 21.74 HP:0003236 MP:0001566 OMIM:311250 Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To OTC Otc het early 23.715 HP:0033139,HP:0003217,HP:0003572,HP:0001987,HP:0001951 MP:0001552,MP:0002941 OMIM:311510 Waisman Syndrome RAB39B Rab39b hom late 41.535 HP:0002322,HP:0001300,HP:0002063,HP:0002396,HP:0002067,HP:0002548 MP:0000745 OMIM:311900 Tarp Syndrome RBM10 Rbm10 het early 23.35 HP:0001399,HP:0000648,HP:0000126,HP:0000085 MP:0000601,MP:0000598,MP:0002699,MP:0002989,MP:0002135 OMIM:600002 Eiken Syndrome PTH1R Pth1r het early 26.075 HP:0001216,HP:0002663,HP:0008103,HP:0004325 MP:0003961,MP:0010124 OMIM:600204 Epiphyseal Dysplasia, Multiple, 2 COL9A2 Col9a2 hom early 66.405 HP:0002515,HP:0002656,HP:0002136,HP:0100694,HP:0005086,HP:0003071,HP:0010582,HP:0001385,HP:0010585,HP:0005715,HP:0004279,HP:0010886,HP:0002970 MP:0004509,MP:0000552,MP:0005296,MP:0000558,MP:0005108,MP:0001402,MP:0002764,MP:0000559,MP:0002932 OMIM:600224 Spinocerebellar Ataxia 5 SPTBN2 Sptbn2 hom early 14.94 HP:0011448 MP:0002764 OMIM:600274 Frontotemporal Dementia MAPT Mapt hom early 45.67 HP:0002145,HP:0000727,HP:0000737,HP:0000726,HP:0000734,HP:0000748,HP:0002591 MP:0011941,MP:0001417 OMIM:600373 Codas Syndrome LONP1 Lonp1 het early 34.505 HP:0000518,HP:0000519 MP:0001303 OMIM:600462 Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 PUS1 Pus1 hom early 22.535 HP:0003281 MP:0005344,MP:0001566 OMIM:600462 Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 PUS1 Pus1 hom late 37.53 HP:0000580,HP:0009743,HP:0000316 MP:0005176,MP:0005102,MP:0005287,MP:0001340,MP:0002750,MP:0006243 OMIM:600649 Carnitine Palmitoyltransferase Ii Deficiency, Infantile CPT2 Cpt2 het early 23.025 HP:0003236,HP:0001987 MP:0001566 OMIM:600740 Hypocalciuric Hypercalcemia, Familial, Type Iii AP2S1 Ap2s1 het early 27.605 HP:0004398 MP:0009476,MP:0000494 OMIM:600775 Craniosynostosis 4 ERF Erf het early 26.555 HP:0000272,HP:0000278 MP:0002100 OMIM:600794 Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5 GARS1 Gars1 het early 25.305 HP:0001765 MP:0000157 OMIM:600795 Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 CHMP2B Chmp2b het late 13.585 HP:0000020 MP:0002135,MP:0002989 OMIM:600802 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative JAK3 Jak3 het early 44.04 HP:0003347,HP:0040219,HP:0033581,HP:0005403,HP:0001888 MP:0002339,MP:0000702,MP:0000691,MP:0000689 OMIM:600803 Gallbladder Disease 1 ABCB4 Abcb4 hom early 17.29 HP:0030151,HP:0033196,HP:0000952,HP:0001396,HP:0001395,HP:0001082,HP:0001408,HP:0011980,HP:0001081,HP:0001733 MP:0004952 OMIM:600807 Asthma, Susceptibility To IL13 Il13 hom early 58.89 HP:0002099,HP:0032933,HP:4000007 MP:0005575 OMIM:600886 Hyperferritinemia With Or Without Cataract FTL Ftl1 hom late 24.855 HP:0003281 MP:0004152 OMIM:600920 Van Den Ende-Gupta Syndrome SCARF2 Scarf2 hom early 36.545 HP:0001822,HP:0000882,HP:0006633,HP:0001166,HP:0005033,HP:0001182,HP:0005709,HP:0003031,HP:0010493,HP:0002980,HP:0003100,HP:0001215,HP:0006236,HP:0000894,HP:0001762,HP:0001836,HP:0001847,HP:0003083 MP:0004357 OMIM:600969 Epiphyseal Dysplasia, Multiple, 3 COL9A3 Col9a3 hom early 22.325 HP:0003236,HP:0008180 MP:0001552 OMIM:600972 Achondrogenesis, Type Ib SLC26A2 Slc26a2 hom early 25.935 HP:0003826 MP:0011100 OMIM:600972 Achondrogenesis, Type Ib SLC26A2 Slc26a2 hom embryo 17.08 HP:0002983 MP:0002109 OMIM:601005 Timothy Syndrome CACNA1C Cacna1c het early 19.86 HP:0001640 MP:0000691 OMIM:601088 Ayme-Gripp Syndrome MAF Maf het late 18.265 HP:0001701 MP:0000274,MP:0000266 OMIM:601088 Ayme-Gripp Syndrome MAF Maf hom embryo 15.845 HP:0004322 MP:0003984 OMIM:601104 Supranuclear Palsy, Progressive, 1 MAPT Mapt hom early 29.285 HP:0002354,HP:0000737,HP:0002439,HP:0002015 MP:0011941,MP:0001417 OMIM:601152 Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy MFN2 Mfn2 het early 35.095 HP:0003376 MP:0001406 OMIM:601198 Hypocalcemia, Autosomal Dominant 1 CASR Casr het early 64.29 HP:0002900,HP:0002905,HP:0000848,HP:0002901,HP:0002917 MP:0000194,MP:0001566 OMIM:601331 Renal Dysplasia, Cystic, Susceptibility To BICC1 Bicc1 het early 33.85 HP:0000076,HP:0000083,HP:0000800 MP:0002135,MP:0002989 OMIM:601338 Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss ATP1A3 Atp1a3 het early 33.685 HP:0001251,HP:0001310,HP:0002066,HP:0002015,HP:0002078,HP:0002131 MP:0001399,MP:0001392,MP:0001364 OMIM:601358 Nicolaides-Baraitser Syndrome SMARCA2 Smarca2 hom early 31.915 HP:0007018,HP:0000718 MP:0001399 OMIM:601455 Charcot-Marie-Tooth Disease, Type 4D NDRG1 Ndrg1 hom early 40.175 HP:0002317,HP:0002359,HP:0034337,HP:0001288 MP:0000745,MP:0000063,MP:0001406 OMIM:601472 Charcot-Marie-Tooth Disease, Axonal, Type 2D GARS1 Gars1 het early 25.08 HP:0001765 MP:0000157 OMIM:601493 Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction LDB3 Ldb3 het early 63.11 HP:0033755,HP:0001645,HP:0001635,HP:0001644,HP:0011713,HP:0001712,HP:0004308 MP:0003068,MP:0010392 OMIM:601539 Peroxisome Biogenesis Disorder 1B PEX1 Pex1 het early 31.825 HP:0002240,HP:0001395,HP:0001394 MP:0000598 OMIM:601626 Leukemia, Acute Myeloid CHIC2 Chic2 het early 15.175 HP:0004808 MP:0000691 OMIM:601626 Leukemia, Acute Myeloid ETV6 Etv6 het early 23.55 HP:0004808 MP:0003179,MP:0002875,MP:0012362 OMIM:601626 Leukemia, Acute Myeloid ETV6 Etv6 het late 14.245 HP:0004808 MP:0004952 OMIM:601626 Leukemia, Acute Myeloid MLLT10 Mllt10 het early 26.84 HP:0004808 MP:0005016,MP:0000219 OMIM:601626 Leukemia, Acute Myeloid MLLT10 Mllt10 het late 16.67 HP:0004808 MP:0000691,MP:0000689 OMIM:601626 Leukemia, Acute Myeloid FLT3 Flt3 hom early 23.885 HP:0004808 MP:0008045,MP:0013771,MP:0000689 OMIM:601665 Obesity PPARG Pparg het early 24.09 HP:0001513 MP:0003961 OMIM:601678 Bartter Syndrome, Type 1, Antenatal SLC12A1 Slc12a1 hom early 60.735 HP:0002914,HP:0003566,HP:0003072,HP:0001518,HP:0003113,HP:0002900,HP:0000848,HP:0002917,HP:0001508 MP:0003020,MP:0005565,MP:0005553,MP:0000194,MP:0008806,MP:0001262 OMIM:601680 Arthrogryposis, Distal, Type 2B1 TNNI2 Tnni2 het early 16.895 HP:0002804,HP:0005684,HP:0100490 MP:0010025 OMIM:601705 T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy FOXN1 Foxn1 hom early 21.64 HP:0005403,HP:0008165 MP:0000703,MP:0000705 OMIM:601707 Curry-Jones Syndrome SMO Smo hom embryo 12.625 HP:0002436,HP:0025480 MP:0001672,MP:0001700 OMIM:601709 Quebec Platelet Disorder PLAU Plau hom early 21.255 HP:0001873 MP:0000220,MP:0000219 OMIM:601780 Ceroid Lipofuscinosis, Neuronal, 6A CLN6 Cln6 hom early 49.48 HP:0000546 MP:0001325 OMIM:601815 Phosphoglycerate Dehydrogenase Deficiency PHGDH Phgdh hom embryo 21.325 HP:0001510,HP:0011451 MP:0011496,MP:0003984 OMIM:601820 Hyperinsulinemic Hypoglycemia, Familial, 2 KCNJ11 Kcnj11 hom early 55.955 HP:0001943,HP:0000825 MP:0013278,MP:0005293 OMIM:601846 Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant PLIN4 Plin4 hom early 23.37 HP:0002015 MP:0020870 OMIM:601847 Cholestasis, Progressive Familial Intrahepatic, 2 ABCB11 Abcb11 hom early 24.38 HP:0002908,HP:0001508 MP:0002968,MP:0003960,MP:0005627 OMIM:601847 Cholestasis, Progressive Familial Intrahepatic, 2 ABCB11 Abcb11 het early 51.035 HP:0002908 MP:0002968,MP:0005343,MP:0005344,MP:0008806,MP:0011896 OMIM:601869 Deafness, Autosomal Recessive 15 GIPC3 Gipc3 hom early 29.715 HP:0000407,HP:0000399 MP:0004738 OMIM:601887 Malignant Hyperthermia, Susceptibility To, 5 CACNA1S Cacna1s hom embryo 28.21 HP:0001649,HP:0012416 MP:0001575,MP:0001914 OMIM:601942 Type 1 Diabetes Mellitus 10 IL2RA Il2ra hom early 51.47 HP:0000819 MP:0005292,MP:0005560 OMIM:602014 Hypomagnesemia 1, Intestinal TRPM6 Trpm6 het early 41.265 HP:0002901,HP:0002917 MP:0000198 OMIM:602066 Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis PRRT2 Prrt2 hom early 35.345 HP:0002268,HP:0007098 MP:0001489 OMIM:602079 Trimethylaminuria FMO3 Fmo3 hom late 58.525 HP:0003614,HP:0001744,HP:0001903,HP:0001875 MP:0000691,MP:0000709,MP:0004832,MP:0000703,MP:0000689,MP:0002135 OMIM:602088 Nephronophthisis 2 INVS Invs hom embryo 33.41 HP:0000822,HP:0010444,HP:0001562 MP:0001785,MP:0001914 OMIM:602099 Amyotrophic Lateral Sclerosis 5, Juvenile SPG11 Spg11 hom early 31.89 HP:0100543 MP:0001417 OMIM:602111 Spondyloepimetaphyseal Dysplasia, Missouri Type MMP13 Mmp13 hom early 54.545 HP:0002986,HP:0008905,HP:0003031,HP:0003015,HP:0002812,HP:0002982,HP:0002980,HP:0003071,HP:0002869,HP:0010585,HP:0003021,HP:0002970 MP:0002764 OMIM:602342 Pierpont Syndrome TBL1XR1 Tbl1xr1 het early 14.29 HP:0009890 MP:0001284 OMIM:602342 Pierpont Syndrome TBL1XR1 Tbl1xr1 het late 20.47 HP:0000028,HP:0000054 MP:0004832 OMIM:602342 Pierpont Syndrome TBL1XR1 Tbl1xr1 hom early 22.825 HP:0002265,HP:0000358,HP:0000365 MP:0004738 OMIM:602347 Cholestasis, Progressive Familial Intrahepatic, 3 ABCB4 Abcb4 hom early 50.54 HP:0002240,HP:0001744,HP:0000952,HP:0001406,HP:0033196,HP:0006580,HP:0001408,HP:0012202,HP:0001394,HP:0001541 MP:0002968,MP:0005642,MP:0002941,MP:0005343,MP:0000186,MP:0005562,MP:0005553,MP:0004952,MP:0005505,MP:0005013,MP:0002874,MP:0002591,MP:0002606,MP:0005627,MP:0008806,MP:0010067,MP:0000219,MP:0005344,MP:0000220,MP:0000218 OMIM:602390 Hemochromatosis, Type 2A HJV Hjv hom early 47.42 HP:0001744,HP:0003452,HP:0003281 MP:0005564,MP:0008810,MP:0005561 OMIM:602398 Desmosterolosis DHCR24 Dhcr24 het early 16.845 HP:0003107,HP:0034937 MP:0010092 OMIM:602485 Hyperinsulinemic Hypoglycemia, Familial, 3 GCK Gck het early 65.045 HP:0000819,HP:0002173,HP:0000825 MP:0005559,MP:0013279,MP:0005293 OMIM:602579 Congenital Disorder Of Glycosylation, Type Ib MPI Mpi het early 19.16 HP:0003073 MP:0000194 OMIM:602668 Myotonic Dystrophy 2 CNBP Cnbp het early 30.085 HP:0003236 MP:0005627,MP:0005419,MP:0003019 OMIM:602771 Congenital Myopathy 3 With Rigid Spine SELENON Selenon hom early 26.22 HP:0001371,HP:0002650,HP:0003306 MP:0004609 OMIM:602782 Histiocytosis-Lymphadenopathy Plus Syndrome SLC29A3 Slc29a3 hom early 28.825 HP:0100490,HP:0001744,HP:0002987,HP:0001433,HP:0009183,HP:0012385,HP:0100651,HP:0012785,HP:0005830,HP:0100727 MP:0005642,MP:0005562,MP:0003179,MP:0002875,MP:0010025,MP:0002874,MP:0010067,MP:0000208,MP:0002599,MP:0005560,MP:0000218 OMIM:602782 Histiocytosis-Lymphadenopathy Plus Syndrome SLC29A3 Slc29a3 hom early 48.51 HP:0002240,HP:0000815,HP:0000824,HP:0001640,HP:0005200,HP:0001744,HP:0025289,HP:0001433,HP:0002716,HP:0000027,HP:0001642,HP:0007380,HP:0002092,HP:0000054,HP:0002594,HP:0100727 MP:0000702,MP:0005333,MP:0000706,MP:0002059,MP:0000691,MP:0002981,MP:0010506,MP:0004952,MP:0000599,MP:0001120,MP:0002339,MP:0001157,MP:0000598,MP:0000703,MP:0002637,MP:0002989,MP:0000689,MP:0002135 OMIM:602875 Acromesomelic Dysplasia 1 NPR2 Npr2 het early 27.215 HP:0003196 MP:0000443 OMIM:602875 Acromesomelic Dysplasia 1 NPR2 Npr2 hom early 32.395 HP:0010049,HP:0002986,HP:0001783,HP:0001831,HP:0002984,HP:0010743,HP:0003015,HP:0010230,HP:0001500,HP:0003086,HP:0003196,HP:0006009,HP:0009803,HP:0001847,HP:0001230 MP:0000550,MP:0000443,MP:0000556 OMIM:603075 Macular Degeneration, Age-Related, 1 HMCN1 Hmcn1 hom early 40.265 HP:0030499,HP:0011506,HP:0031609,HP:0025574,HP:0000608,HP:0012643 MP:0008259 OMIM:603233 Pseudohypoparathyroidism, Type Ib GNAS Gnas hom early 18.03 HP:0001513 MP:0003960 OMIM:603233 Pseudohypoparathyroidism, Type Ib STX16 Stx16 hom early 41.43 HP:0002905,HP:0002901,HP:0001513 MP:0002968,MP:0002941,MP:0005627,MP:0005419,MP:0005344,MP:0003960 OMIM:603457 Bosma Arhinia Microphthalmia Syndrome SMCHD1 Smchd1 hom early 13.645 HP:0000218,HP:0000175 MP:0000470 OMIM:603467 Fanconi Anemia, Complementation Group F FANCF Fancf hom early 31.725 HP:0001882,HP:0001873,HP:0001903 MP:0005561,MP:0002590 OMIM:603552 Hemophagocytic Lymphohistiocytosis, Familial, 4 STX11 Stx11 hom early 36.345 HP:0002240,HP:0002155,HP:0001744,HP:0003281,HP:0001873,HP:0012156,HP:0001875,HP:0001903 MP:0005013,MP:0005565,MP:0000274,MP:0002833 OMIM:603553 Hemophagocytic Lymphohistiocytosis, Familial, 2 PRF1 Prf1 hom early 32.805 HP:0001876,HP:0001744,HP:0001433,HP:0001903,HP:0001882,HP:0012156,HP:0001873 MP:0005642 OMIM:603592 Xanthinuria, Type Ii MOCOS Mocos het early 25.405 HP:0034333,HP:0003537,HP:0010933 MP:0005178,MP:0001556 OMIM:603671 Acromelic Frontonasal Dysostosis ZSWIM6 Zswim6 het early 40.465 HP:0007968,HP:0000609 MP:0001289 OMIM:603776 Hypercholesterolemia, Familial, 3 PCSK9 Pcsk9 hom early 54.79 HP:0003124,HP:0031886,HP:0001114 MP:0002968,MP:0000186,MP:0011886,MP:0005179,MP:0008806 OMIM:604173 Poikiloderma With Neutropenia USB1 Usb1 hom embryo 37.24 HP:0000969 MP:0001785 OMIM:604229 Anterior Segment Dysgenesis 5 PAX6 Pax6 het early 59.17 HP:0007750,HP:0000558,HP:0000647,HP:0000519,HP:0007676,HP:0000482,HP:0011483,HP:0000659,HP:0000568,HP:0000627 MP:0001293,MP:0001297,MP:0001314,MP:0005542 OMIM:604229 Anterior Segment Dysgenesis 5 PAX6 Pax6 het embryo 48.605 HP:0007750,HP:0007676,HP:0000558,HP:0000568 MP:0001297 OMIM:604229 Anterior Segment Dysgenesis 5 PAX6 Pax6 hom embryo 39.96 HP:0007750,HP:0007676,HP:0000558,HP:0000568 MP:0001293 OMIM:604250 Hemochromatosis, Type 3 TFR2 Tfr2 hom early 58.365 HP:0003281,HP:0012463,HP:0003452,HP:0001875,HP:0001888,HP:0001903 MP:0005564,MP:0002590,MP:0005561,MP:0005641,MP:0002875,MP:0008810 OMIM:604250 Hemochromatosis, Type 3 TFR2 Tfr2 hom late 49.695 HP:0002910,HP:0001638,HP:0001394,HP:0001875,HP:0001888,HP:0001903 MP:0001586,MP:0000274,MP:0005640,MP:0000266,MP:0001589,MP:0000226,MP:0000598,MP:0005563 OMIM:604273 Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 ATPAF2 Atpaf2 het early 34.165 HP:0000278,HP:0000347 MP:0000455 OMIM:604290 Aceruloplasminemia CP Cp hom early 51.18 HP:0040303,HP:0025498,HP:0003281,HP:0001903 MP:0005642,MP:0005562,MP:0004151,MP:0002874,MP:0002591 OMIM:604317 Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations WDR62 Wdr62 hom early 37.995 HP:0000028 MP:0001147,MP:0001925,MP:0001157 OMIM:604320 Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 IGHMBP2 Ighmbp2 het late 16.62 HP:0000020 MP:0003068 OMIM:604360 Spastic Paraplegia 11, Autosomal Recessive SPG11 Spg11 hom early 30.43 HP:0001268 MP:0001417 OMIM:604367 Lipodystrophy, Familial Partial, Type 3 PPARG Pparg het early 53.23 HP:0003635,HP:0003758,HP:0009125,HP:0009800,HP:0000855,HP:0000831,HP:0000842,HP:0009017,HP:0005978,HP:0003074 MP:0013279,MP:0010024 OMIM:604416 Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne PSTPIP1 Pstpip1 hom early 50.215 HP:0001876,HP:0011227,HP:0001935,HP:0001433,HP:0001894,HP:0025616 MP:0013763,MP:0000691,MP:0000709,MP:0005568,MP:0000599,MP:0000598,MP:0008074,MP:0000703,MP:0005628,MP:0000689,MP:0003917 OMIM:604841 Stickler Syndrome, Type Ii COL11A1 Col11a1 hom embryo 50.68 HP:0001166,HP:0002705,HP:0100807,HP:0000201,HP:0000175,HP:0000193 MP:0009908,MP:0000111,MP:0002109 OMIM:604928 Wolfram Syndrome 2 CISD2 Cisd2 hom early 27.945 HP:0000819 MP:0002078 OMIM:605019 Hypobetalipoproteinemia, Familial, 2 ANGPTL3 Angptl3 hom early 48.24 HP:0012153,HP:0003563 MP:0005179,MP:0000186 OMIM:605039 Bohring-Opitz Syndrome ASXL1 Asxl1 het early 28.205 HP:0001373,HP:0000960,HP:0005487,HP:0003049,HP:0001371,HP:0000587,HP:0012385,HP:0003083 MP:0004650,MP:0004649,MP:0004609,MP:0006243 OMIM:605130 Wiedemann-Steiner Syndrome KMT2A Kmt2a het early 20.24 HP:0001388,HP:0009697,HP:0001508 MP:0003960,MP:0000063 OMIM:605192 Deafness, Autosomal Dominant 23 SIX1 Six1 het late 26.67 HP:0000076 MP:0003068,MP:0002135,MP:0002989 OMIM:605259 Spinocerebellar Ataxia 13 KCNC3 Kcnc3 hom late 30.07 HP:0002073,HP:0002406,HP:0002070,HP:0002066 MP:0002574 OMIM:605275 Noonan Syndrome 2 LZTR1 Lztr1 het early 14.26 HP:0001909 MP:0010067 OMIM:605282 Temtamy Preaxial Brachydactyly Syndrome CHSY1 Chsy1 hom early 27.175 HP:0008368,HP:0000648,HP:0000175,HP:0002974,HP:0008619,HP:0009702 MP:0000063,MP:0002699,MP:0004738,MP:0000494,MP:0009476,MP:0001325 OMIM:605407 Segawa Syndrome, Autosomal Recessive TH Th het early 39.35 HP:0002066 MP:0001406 OMIM:605472 Usher Syndrome, Type Iic ADGRV1 Adgrv1 hom early 29.54 HP:0008527 MP:0004738 OMIM:605479 Cholestasis, Benign Recurrent Intrahepatic, 2 ABCB11 Abcb11 hom early 23.98 HP:0002908 MP:0002968,MP:0005627 OMIM:605479 Cholestasis, Benign Recurrent Intrahepatic, 2 ABCB11 Abcb11 het early 53.475 HP:0002908 MP:0002968,MP:0005343,MP:0005344,MP:0008806,MP:0011896 OMIM:605543 Parkinson Disease 4, Autosomal Dominant SNCA Snca hom late 15.595 HP:0001278 MP:0003896 OMIM:605583 Deafness, Autosomal Dominant 25 SLC17A8 Slc17a8 hom early 26.89 HP:0000407 MP:0004738 OMIM:605588 Charcot-Marie-Tooth Disease, Axonal, Type 2B1 LMNA Lmna het early 14.73 HP:0001761 MP:0002764 OMIM:605670 Late-Onset Retinal Degeneration C1QTNF5 C1qtnf5 het early 64.395 HP:0031531,HP:0011506,HP:0200065,HP:0000488,HP:0000546 MP:0001325 OMIM:605670 Late-Onset Retinal Degeneration C1QTNF5 C1qtnf5 hom early 67.14 HP:0031531,HP:0011506,HP:0200065,HP:0000488,HP:0000546 MP:0001325 OMIM:605676 Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma DSP Dsp hom embryo 24.94 HP:0031319,HP:0001644 MP:0000266 OMIM:606053 Intellectual Developmental Disorder With Autism And Speech Delay TBR1 Tbr1 het embryo 21.33 HP:0001302 MP:0000433 OMIM:606053 Intellectual Developmental Disorder With Autism And Speech Delay TBR1 Tbr1 hom embryo 21.33 HP:0001302 MP:0000433 OMIM:606054 Propionic Acidemia PCCB Pccb het early 17.335 HP:0410066,HP:0003108 MP:0002135,MP:0008528 OMIM:606054 Propionic Acidemia PCCB Pccb het embryo 26.72 HP:0001638,HP:0011695,HP:0002059 MP:0000433,MP:0001914 OMIM:606054 Propionic Acidemia PCCB Pccb hom embryo 26.72 HP:0001638,HP:0011695,HP:0002059 MP:0000433,MP:0001914 OMIM:606054 Propionic Acidemia PCCA Pcca het early 27 HP:0000939 MP:0010123 OMIM:606056 Congenital Disorder Of Glycosylation, Type Iib MOGS Mogs het early 31.29 HP:0002240,HP:0002757,HP:0000218,HP:0001188,HP:0010557 MP:0002544,MP:0000467,MP:0001944,MP:0000063 OMIM:606069 Hemochromatosis, Type 4 SLC40A1 Slc40a1 het early 24.45 HP:0003281,HP:0002758,HP:0012463 MP:0001552,MP:0000063 OMIM:606072 Rippling Muscle Disease 2 CAV3 Cav3 hom early 21.23 HP:0003236 MP:0000182 OMIM:606159 Neurodegeneration With Brain Iron Accumulation 3 FTL Ftl1 hom early 27.175 HP:0001266,HP:0001251 MP:0001406 OMIM:606159 Neurodegeneration With Brain Iron Accumulation 3 FTL Ftl1 hom late 19.745 HP:0012343 MP:0004152 OMIM:606176 Diabetes Mellitus, Permanent Neonatal, 1 GCK Gck het early 68.1 HP:0000819,HP:0040217,HP:0030795,HP:0100651,HP:0003074 MP:0002968,MP:0005559,MP:0013279,MP:0005293 OMIM:606220 Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects FBXL3 Fbxl3 hom early 14.265 HP:0000218 MP:0003271 OMIM:606346 Deafness, Autosomal Dominant 22 MYO6 Myo6 hom early 25.84 HP:0000408,HP:0000407 MP:0004738 OMIM:606367 Immunodeficiency 41 With Lymphoproliferation And Autoimmunity IL2RA Il2ra hom early 48.9 HP:0001878,HP:0001890,HP:0011473,HP:0020113,HP:0030812,HP:0001433,HP:0002716,HP:0005403,HP:0010976,HP:0100651,HP:0033222 MP:0000702,MP:0005642,MP:0000495,MP:0005562,MP:0012362,MP:0003271,MP:0002875,MP:0002591,MP:0002874,MP:0005292,MP:0000689,MP:0000219,MP:0000208,MP:0005016,MP:0005560 OMIM:606392 Maturity-Onset Diabetes Of The Young, Type 4 PDX1 Pdx1 het early 96.08 HP:0005978,HP:0004904 MP:0005293 OMIM:606408 Ehlers-Danlos Syndrome, Classic-Like TNXB Tnxb hom early 22.665 HP:0031655,HP:0001634 MP:0000274 OMIM:606721 Lipodystrophy, Familial Partial, Type 7 CAV1 Cav1 hom early 42.225 HP:0001278,HP:0002155,HP:0000822,HP:0002092,HP:0003124 MP:0002626,MP:0005178,MP:0005140,MP:0001556 OMIM:607039 Deafness, Autosomal Recessive 22 OTOA Otoa hom early 33.215 HP:0000407 MP:0004738 OMIM:607101 Deafness, Autosomal Recessive 30 MYO3A Myo3a hom early 39.495 HP:0000408,HP:0001730 MP:0004738 OMIM:607236 Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration PANK2 Pank2 hom early 24.035 HP:0002015,HP:0001927 MP:0010850,MP:0008079,MP:0020421,MP:0000689 OMIM:607326 Smith-Mccort Dysplasia 1 DYM Dym hom early 36.78 HP:0010049,HP:0008835,HP:0008786,HP:0000882,HP:0003311,HP:0008829,HP:0002857,HP:0010582,HP:0003274,HP:0009803,HP:0003025,HP:0002970 MP:0002932,MP:0003795,MP:0010124,MP:0002764 OMIM:607346 Spinocerebellar Ataxia 19 KCND3 Kcnd3 hom early 44.94 HP:0002070,HP:0002066,HP:0002015,HP:0002073,HP:0100543,HP:0002078 MP:0020870,MP:0002574,MP:0001402,MP:0001399,MP:0001417 OMIM:607346 Spinocerebellar Ataxia 19 KCND3 Kcnd3 hom late 24.685 HP:0002015 MP:0001399 OMIM:607426 Coenzyme Q10 Deficiency, Primary, 1 COQ2 Coq2 het early 19.3 HP:0001639 MP:0002834 OMIM:607450 Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 DSP Dsp hom embryo 22.01 HP:0011663 MP:0000266 OMIM:607454 Spinocerebellar Ataxia 21 TMEM240 Tmem240 hom early 55.38 HP:0001251,HP:0001300,HP:0100710,HP:0000718,HP:0002174,HP:0002304,HP:0002070,HP:0002066,HP:0002396,HP:0002073,HP:0002071,HP:0100543,HP:0001332,HP:0001268,HP:0002080 MP:0001364,MP:0001415,MP:0000745,MP:0001399,MP:0001392 OMIM:607596 Pontocerebellar Hypoplasia, Type 1A VRK1 Vrk1 het early 22.355 HP:0002015 MP:0020870 OMIM:607624 Griscelli Syndrome, Type 2 RAB27A Rab27a hom early 58.335 HP:0001008,HP:0002218,HP:0001010,HP:0002220 MP:0002075 OMIM:607677 Charcot-Marie-Tooth Disease, Axonal, Type 2I MPZ Mpz hom early 46.165 HP:0003376 MP:0001402,MP:0001406 OMIM:607688 Parkinson Disease 11, Autosomal Dominant, Susceptibility To GIGYF2 Gigyf2 hom early 52.96 HP:0002067,HP:0002322,HP:0002548,HP:0002063 MP:0000745,MP:0001402 OMIM:607736 Charcot-Marie-Tooth Disease, Axonal, Type 2J MPZ Mpz hom early 39.565 HP:0003376 MP:0001402,MP:0001406 OMIM:607785 Juvenile Myelomonocytic Leukemia ARHGAP26 Arhgap26 hom early 38.49 HP:0012209 MP:0000218,MP:0002591 OMIM:607821 Deafness, Autosomal Recessive 37 MYO6 Myo6 hom early 25.13 HP:0000407 MP:0004738 OMIM:607822 Alzheimer Disease 3 PSEN1 Psen1 het early 25.975 HP:0001332 MP:0001488 OMIM:607822 Alzheimer Disease 3 PSEN1 Psen1 hom embryo 23.835 HP:0001332 MP:0001491 OMIM:607906 Congenital Disorder Of Glycosylation, Type Ii ALG2 Alg2 het early 15.92 HP:0000821 MP:0002079 OMIM:607932 Microphthalmia, Syndromic 6 BMP4 Bmp4 het early 31.68 HP:0000482,HP:0000556,HP:0001144,HP:0000647 MP:0011960,MP:0005176,MP:0008259,MP:0001322,MP:0003733,MP:0011965,MP:0003731,MP:0001325,MP:0011962 OMIM:607932 Microphthalmia, Syndromic 6 BMP4 Bmp4 het embryo 35.165 HP:0000568,HP:0000528 MP:0001297 OMIM:608013 Gaucher Disease, Perinatal Lethal GBA1 Gba1 het early 31.22 HP:0001744,HP:0001873,HP:0001903,HP:0001433 MP:0002599 OMIM:608013 Gaucher Disease, Perinatal Lethal GBA1 Gba1 hom early 21.51 HP:0003811 MP:0011100 OMIM:608104 Congenital Disorder Of Glycosylation, Type Ih ALG8 Alg8 het early 17.35 HP:0001508,HP:0012385 MP:0003961,MP:0010024 OMIM:608104 Congenital Disorder Of Glycosylation, Type Ih ALG8 Alg8 het late 20.365 HP:0003259,HP:0003073 MP:0005178,MP:0001556 OMIM:608104 Congenital Disorder Of Glycosylation, Type Ih ALG8 Alg8 hom early 23.215 HP:0003811 MP:0011100 OMIM:608104 Congenital Disorder Of Glycosylation, Type Ih ALG8 Alg8 hom embryo 34.38 HP:0003811,HP:0001511 MP:0003984,MP:0013293,MP:0001697 OMIM:608389 Branchiootic Syndrome 3 SIX1 Six1 het embryo 18.975 HP:0009796 MP:0003231,MP:0001711 OMIM:608389 Branchiootic Syndrome 3 SIX1 Six1 hom embryo 18.145 HP:0009796 MP:0001711,MP:0003984 OMIM:608390 Myotonia, Potassium-Aggravated SCN4A Scn4a het early 41.45 HP:0003236 MP:0002966,MP:0008806 OMIM:608404 Platelet Glycoprotein Iv Deficiency CD36 Cd36 hom late 27.49 HP:0001892,HP:0003010,HP:0001902,HP:0001873 MP:0006203,MP:0000691,MP:0000689 OMIM:608516 Major Depressive Disorder TPH2 Tph2 hom early 51.13 HP:0000716 MP:0001417 OMIM:608540 Congenital Disorder Of Glycosylation, Type Ik ALG1 Alg1 het early 18.32 HP:0001744 MP:0005011,MP:0005013,MP:0000218,MP:0002606 OMIM:608611 Ribose 5-Phosphate Isomerase Deficiency RPIA Rpia het early 26.82 HP:0410057,HP:0025550 MP:0000195,MP:0000186 OMIM:608615 Oligodontia-Colorectal Cancer Syndrome AXIN2 Axin2 hom embryo 30.21 HP:0002223,HP:0005227,HP:0000677,HP:0003003,HP:0010764,HP:0033769 MP:0009908,MP:0009263 OMIM:608703 Spinocerebellar Ataxia 25 PNPT1 Pnpt1 het early 28.63 HP:0001251 MP:0001406 OMIM:608709 Lipodystrophy, Partial, Acquired, Susceptibility To LMNB2 Lmnb2 het early 24.57 HP:0003119 MP:0005344 OMIM:608836 Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal CPT2 Cpt2 het early 21.26 HP:0003236,HP:0003455,HP:0003259,HP:0001987,HP:0011936,HP:0008315,HP:0003573 MP:0001566 OMIM:608874 Orofacial Cleft 5 MSX1 Msx1 hom embryo 66.815 HP:0000175,HP:0000204 MP:0000111 OMIM:609006 Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement ESPN Espn hom early 43.61 HP:0008568 MP:0006358 OMIM:609135 Aplastic Anemia IFNG Ifng het early 25.18 HP:0001915 MP:0002608 OMIM:609135 Aplastic Anemia PRF1 Prf1 hom early 30.145 HP:0001915 MP:0005642 OMIM:609220 Bruck Syndrome 2 PLOD2 Plod2 het late 16.33 HP:0001059 MP:0005544 OMIM:609260 Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A MFN2 Mfn2 het early 41.24 HP:0003376 MP:0001406 OMIM:609313 Mednik Syndrome AP1S1 Ap1s1 hom early 21.035 HP:0003811 MP:0011100 OMIM:609439 Deafness, Autosomal Recessive 48 CIB2 Cib2 hom early 29.885 HP:0011476 MP:0004738,MP:0002102 OMIM:609441 Acromesomelic Dysplasia 3 BMPR1B Bmpr1b hom early 38.385 HP:0009803,HP:0003022,HP:0011969,HP:0001831,HP:0100864,HP:0008232,HP:0010034,HP:0002990,HP:0000815,HP:0005028,HP:0000013,HP:0001776,HP:0001762,HP:0009826,HP:0001156,HP:0008368,HP:0000786,HP:0009381,HP:0009466,HP:0009702,HP:0009596 MP:0000572,MP:0002059,MP:0001926,MP:0001147,MP:0001157,MP:0001146 OMIM:609446 Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy KCNMA1 Kcnma1 hom early 41.565 HP:0007166 MP:0000745 OMIM:609452 Myopathy, Myofibrillar, 4 LDB3 Ldb3 het early 17.935 HP:0001638 MP:0010392 OMIM:609528 Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome SNAP29 Snap29 het early 20.765 HP:0001508 MP:0003960 OMIM:609541 Spastic Paraplegia, Optic Atrophy, And Neuropathy KLC2 Klc2 hom early 39.27 HP:0000543,HP:0002267,HP:0000648 MP:0006358,MP:0004738 OMIM:609628 Majeed Syndrome LPIN2 Lpin2 hom early 42.575 HP:0010972,HP:0001935,HP:0001433,HP:0025066,HP:0012132 MP:0000702,MP:0005642,MP:0005562,MP:0002874,MP:0010067,MP:0002599 OMIM:609638 Epidermolysis Bullosa, Lethal Acantholytic DSP Dsp hom early 22.745 HP:0003811 MP:0011100 OMIM:609638 Epidermolysis Bullosa, Lethal Acantholytic DSP Dsp hom embryo 23.415 HP:0003811,HP:0000695 MP:0002884,MP:0013294 OMIM:609734 Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair POMC Pomc het early 21.87 HP:0002173 MP:0005293 OMIM:609734 Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair POMC Pomc het late 16.945 HP:0001396 MP:0000691,MP:0000689 OMIM:609823 Deafness, Autosomal Recessive 28 TRIOBP Triobp hom early 34.22 HP:0008625 MP:0004738 OMIM:610017 Multiple Synostoses Syndrome 2 GDF5 Gdf5 hom early 42.74 HP:0002948,HP:0008368,HP:0003041,HP:0009700,HP:0100264,HP:0001762,HP:0009702,HP:0001156 MP:0000062,MP:0000572,MP:0000550,MP:0002110,MP:0000556 OMIM:610019 Cataract 18 FYCO1 Fyco1 hom early 49.46 HP:0100018 MP:0001304 OMIM:610042 Pitt-Hopkins-Like Syndrome 1 CNTNAP2 Cntnap2 hom early 28.055 HP:0007064,HP:0007018 MP:0001415 OMIM:610100 Giant Axonal Neuropathy 2, Autosomal Dominant DCAF8 Dcaf8 hom early 28.885 HP:0001638 MP:0000274,MP:0000266 OMIM:610127 Ceroid Lipofuscinosis, Neuronal, 10 CTSD Ctsd hom early 25.015 HP:0003811 MP:0011110 OMIM:610140 Heart-Hand Syndrome, Slovenian Type LMNA Lmna het early 37.43 HP:0001159,HP:0030084,HP:0001156,HP:0010239 MP:0002764 OMIM:610153 Deafness, Autosomal Recessive 49 MARVELD2 Marveld2 hom early 33.96 HP:0000399 MP:0004738,MP:0002102 OMIM:610168 Loeys-Dietz Syndrome 2 TGFBR2 Tgfbr2 het early 20.23 HP:0001631,HP:0005182,HP:0001647,HP:0001634 MP:0000274,MP:0000266 OMIM:610193 Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 DSG2 Dsg2 hom early 36.665 HP:0011663,HP:0001645,HP:0004756,HP:0006682,HP:0011712,HP:0001962,HP:0012248,HP:0002224,HP:0034304,HP:0004308 MP:0005140,MP:0002753,MP:0001510 OMIM:610198 3-Methylglutaconic Aciduria, Type V DNAJC19 Dnajc19 hom early 31.675 HP:0004856,HP:0001508 MP:0003961,MP:0005642 OMIM:610202 Cataract 21, Multiple Types MAF Maf het embryo 30.43 HP:0001104 MP:0001297 OMIM:610202 Cataract 21, Multiple Types MAF Maf hom embryo 28.775 HP:0001104 MP:0001297 OMIM:610220 Deafness, Autosomal Recessive 59 PJVK Pjvk hom early 31.635 HP:0000407 MP:0004738 OMIM:610253 Kleefstra Syndrome 1 EHMT1 Ehmt1 het early 27.725 HP:0000733,HP:0001513,HP:0000722,HP:0000718 MP:0001363,MP:0003960,MP:0002797 OMIM:610256 Anterior Segment Dysgenesis 2 FOXE3 Foxe3 hom early 59.005 HP:0000518,HP:0007957,HP:0000647,HP:0000482,HP:0011484,HP:0007779,HP:0000659,HP:0000526,HP:0000568,HP:0007707 MP:0001293,MP:0001297,MP:0001314 OMIM:610313 Crisponi/Cold-Induced Sweating Syndrome 2 CLCF1 Clcf1 het early 22.95 HP:0001377 MP:0000062 OMIM:610333 Aicardi-Goutieres Syndrome 4 RNASEH2A Rnaseh2a het early 54.38 HP:0002240,HP:0001876,HP:0001744,HP:0001433,HP:0001332,HP:0001873 MP:0005562,MP:0005505,MP:0004952,MP:0001488,MP:0002591,MP:0000220,MP:0002599 OMIM:610359 Retinitis Pigmentosa 33 SNRNP200 Snrnp200 het early 38.045 HP:0000543,HP:0007737,HP:0007722,HP:0000510,HP:0007843 MP:0006243 OMIM:610374 Diabetes Mellitus, Transient Neonatal, 2 ABCC8 Abcc8 hom early 80.335 HP:0008255,HP:0005978 MP:0005293 OMIM:610475 Pigmented Nodular Adrenocortical Disease, Primary, 2 PDE11A Pde11a hom early 44.805 HP:0001580,HP:0003466,HP:0002920,HP:0000138,HP:0003118,HP:0001579 MP:0001147,MP:0009709,MP:0001120,MP:0001146,MP:0001126 OMIM:610476 Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 DSC2 Dsc2 hom early 32.74 HP:0011663,HP:0001645,HP:0001279,HP:0001962,HP:0004308 MP:0005542 OMIM:610478 Retinal Cone Dystrophy 4 CACNA2D4 Cacna2d4 hom early 45.79 HP:0000548,HP:0007814 MP:0001325,MP:0010097 OMIM:610505 Combined Oxidative Phosphorylation Deficiency 3 TSFM Tsfm het early 22.76 HP:0000648,HP:0001138 MP:0001325 OMIM:610536 Mandibulofacial Dysostosis, Guion-Almeida Type EFTUD2 Eftud2 het early 24.615 HP:0001631,HP:0001629 MP:0010579 OMIM:610536 Mandibulofacial Dysostosis, Guion-Almeida Type EFTUD2 Eftud2 het late 28.765 HP:0001631,HP:0001629 MP:0003921,MP:0010580,MP:0002953 OMIM:610542 Myasthenic Syndrome, Congenital, 12 GFPT1 Gfpt1 het early 23.205 HP:0008180 MP:0005178,MP:0001556 OMIM:610582 Diabetes Mellitus, Transient Neonatal, 3 KCNJ11 Kcnj11 hom early 59.505 HP:0008255,HP:0003074,HP:0040217,HP:0009800 MP:0013278,MP:0005293,MP:0002874 OMIM:610612 Leber Congenital Amaurosis 12 RD3 Rd3 hom early 52.335 HP:0008002 MP:0001325,MP:0003733,MP:0003731,MP:0011965 OMIM:610623 Cataract 11, Multiple Types PITX3 Pitx3 hom early 48.005 HP:0000568,HP:0002072 MP:0001516,MP:0001293 OMIM:610644 Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal RSPO1 Rspo1 hom early 41.085 HP:0000047,HP:0003241,HP:0012861,HP:0008404,HP:0000062,HP:0008734,HP:0008665 MP:0002098,MP:0001926,MP:0001147,MP:0002135,MP:0001146 OMIM:610644 Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal RSPO1 Rspo1 hom early 19.265 HP:0003124,HP:0002155 MP:0002968,MP:0005553 OMIM:610708 Optic Atrophy 5 DNM1L Dnm1l het early 56.29 HP:0000543,HP:0000648 MP:0008259,MP:0002699,MP:0001289 OMIM:610755 Multiple Endocrine Neoplasia, Type Iv CDKN1B Cdkn1b hom early 17.88 HP:0030405,HP:0100570 MP:0008259 OMIM:610759 Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects SMC3 Smc3 het early 28.475 HP:0011230,HP:0000574,HP:0100874,HP:0002553,HP:0000664,HP:0000294,HP:0000527,HP:0001007 MP:0002075 OMIM:610773 Mitochondrial Phosphate Carrier Deficiency SLC25A3 Slc25a3 het early 28.97 HP:0001639,HP:0012087 MP:0001147,MP:0000274,MP:0000266 OMIM:610878 Vesicoureteral Reflux 2 ROBO2 Robo2 het early 60.275 HP:0000076,HP:0000089 MP:0002135,MP:0003068 OMIM:610915 Osteogenesis Imperfecta, Type Viii P3H1 P3h1 hom early 40.035 HP:0000938,HP:0001388,HP:0010049,HP:0002986,HP:0000023,HP:0002757,HP:0008796,HP:0005855,HP:0002980,HP:0002982,HP:0005474,HP:0003784,HP:0004331,HP:0000703 MP:0010124,MP:0000063,MP:0010024,MP:0012000 OMIM:610921 Surfactant Metabolism Dysfunction, Pulmonary, 3 ABCA3 Abca3 hom early 20.61 HP:0003811 MP:0011100 OMIM:610951 Ceroid Lipofuscinosis, Neuronal, 7 MFSD8 Mfsd8 hom early 48.635 HP:0000488,HP:0000580,HP:0000648 MP:0001325,MP:0006243,MP:0002792,MP:0002075 OMIM:610968 Osteogenesis Imperfecta, Type Xi FKBP10 Fkbp10 het early 34.26 HP:0000938,HP:0002757,HP:0001388,HP:0002659 MP:0002896 OMIM:610992 Phosphoserine Aminotransferase Deficiency PSAT1 Psat1 het early 23.54 HP:0012277,HP:0012279 MP:0005632 OMIM:611087 Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy STRADA Strada hom embryo 29.105 HP:0000154,HP:0000194,HP:0000179,HP:0000215 MP:0009908,MP:0000111 OMIM:611091 Intellectual Developmental Disorder, Autosomal Recessive 5 NSUN2 Nsun2 het early 36.98 HP:0002136 MP:0001406 OMIM:611091 Intellectual Developmental Disorder, Autosomal Recessive 5 NSUN2 Nsun2 hom early 43.465 HP:0002136,HP:0001518,HP:0004692,HP:0000431,HP:0000322,HP:0000215,HP:0000319 MP:0000443,MP:0005296,MP:0001262,MP:0002100,MP:0001406 OMIM:611263 Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly IFT80 Ift80 het early 54.545 HP:0010049,HP:0008905,HP:0001162,HP:0001169,HP:0001773,HP:0003027,HP:0001156 MP:0000552,MP:0005108 OMIM:611263 Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly IFT80 Ift80 hom early 31.725 HP:0001773,HP:0010049,HP:0001162,HP:0001156 MP:0004509 OMIM:611363 Atrial Septal Defect 4 TBX20 Tbx20 het early 38.21 HP:0001631,HP:0001655 MP:0000266,MP:0002188 OMIM:611363 Atrial Septal Defect 4 TBX20 Tbx20 hom embryo 27.785 HP:0001631,HP:0001655 MP:0000266,MP:0000269 OMIM:611369 Lethal Congenital Contracture Syndrome 3 PIP5K1C Pip5k1c hom early 37.84 HP:0003811 MP:0011100 OMIM:611390 Spastic Ataxia 3, Autosomal Recessive MARS2 Mars2 het early 22.715 HP:0000012,HP:0000011 MP:0011436 OMIM:611431 Legius Syndrome SPRED1 Spred1 hom early 46.36 HP:0030052,HP:0000358,HP:0000347,HP:0000470,HP:0002705,HP:0000997,HP:0034349,HP:0000218,HP:0000369,HP:0007018,HP:0001480,HP:0000957 MP:0004609,MP:0000455,MP:0002797,MP:0004599,MP:0000274,MP:0000266,MP:0000458,MP:0000137,MP:0004613,MP:0005270,MP:0004738,MP:0011239,MP:0020421,MP:0002100 OMIM:611465 Gallbladder Disease 4 ABCG8 Abcg8 hom early 25.16 HP:0001081 MP:0000598,MP:0000691,MP:0000599,MP:0000689 OMIM:611497 Osteopetrosis, Autosomal Recessive 6 PLEKHM1 Plekhm1 hom early 57.095 HP:0100959,HP:0011002,HP:0004975,HP:0033701 MP:0000062,MP:0010123,MP:0002764 OMIM:611548 Premature Ovarian Failure 5 NOBOX Nobox hom early 25.825 HP:0010464,HP:0008724 MP:0002059 OMIM:611719 Combined Oxidative Phosphorylation Deficiency 5 MRPS22 Mrps22 het early 34.49 HP:0001987 MP:0005554 OMIM:611783 Erythrocytosis, Familial, 4 EPAS1 Epas1 het early 44.56 HP:0001899,HP:0001901,HP:0001900 MP:0002874 OMIM:611804 Elliptocytosis 1 EPB41 Epb41 het early 47.37 HP:0001744,HP:0001878,HP:0004445 MP:0005562,MP:0002591 OMIM:611878 Cardiomyopathy, Dilated, 1Y TPM1 Tpm1 het early 19.86 HP:0001644,HP:0010316,HP:0011664 MP:0002833 OMIM:611890 Congenital Arthrogryposis With Anterior Horn Cell Disease GLE1 Gle1 hom early 26.05 HP:0003811 MP:0011100 OMIM:611938 Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 CASQ2 Casq2 het early 64.405 HP:0031677,HP:0001279,HP:0004756,HP:0001662 MP:0004122,MP:0003929 OMIM:612015 Congenital Disorder Of Glycosylation, Type In RFT1 Rft1 het early 26.11 HP:0001181 MP:0004357 OMIM:612067 Dystonia 16 PRKRA Prkra hom early 23.715 HP:0002015 MP:0020421 OMIM:612138 Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia PLEC Plec hom early 28.335 HP:0003811 MP:0011100 OMIM:612138 Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia PLEC Plec hom embryo 36.06 HP:0001561 MP:0001785 OMIM:612164 Developmental And Epileptic Encephalopathy 4 STXBP1 Stxbp1 het early 27.775 HP:0010851,HP:0002521 MP:0004738 OMIM:612287 Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 NHERF1 Nherf1 hom early 35.255 HP:0002148 MP:0004151 OMIM:612290 Microtia, Hearing Impairment, And Cleft Palate HOXA2 Hoxa2 het early 21.91 HP:0031229,HP:0000410,HP:0008551,HP:0000396 MP:0004738 OMIM:612319 Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration FA2H Fa2h hom early 28.77 HP:0000012,HP:0000648,HP:0000020 MP:0003068,MP:0001325,MP:0002699,MP:0002135 OMIM:612347 Jervell And Lange-Nielsen Syndrome 2 KCNE1 Kcne1 hom early 17.785 HP:0008527 MP:0004738 OMIM:612379 Congenital Disorder Of Glycosylation, Type Iq SRD5A3 Srd5a3 het early 16.795 HP:0000648,HP:0000369 MP:0004738 OMIM:612394 Bone Fragility With Contractures, Arterial Rupture, And Deafness PLOD3 Plod3 het early 18.41 HP:0000407,HP:0000369 MP:0004738 OMIM:612394 Bone Fragility With Contractures, Arterial Rupture, And Deafness PLOD3 Plod3 hom embryo 31.605 HP:0008897,HP:0001511 MP:0001697,MP:0003984 OMIM:612431 Deafness, Autosomal Dominant 27 REST Rest het early 35.585 HP:0000407 MP:0004738 OMIM:612462 Pseudohypoparathyroidism, Type Ic GNAS Gnas hom early 16.085 HP:0001513 MP:0003960 OMIM:612463 Pseudopseudohypoparathyroidism GNAS Gnas hom early 17.66 HP:0001513 MP:0003960 OMIM:612526 Lipodystrophy, Congenital Generalized, Type 3 CAV1 Cav1 hom early 57.48 HP:0002155,HP:0001744,HP:0001433,HP:0002901,HP:0003124 MP:0005564,MP:0002590,MP:0005561,MP:0005178,MP:0001556 OMIM:612529 Amelogenesis Imperfecta, Hypomaturation Type, Iia2 MMP20 Mmp20 hom early 66.55 HP:0009102,HP:0033786,HP:0000705,HP:0006286 MP:0013129,MP:0002100,MP:0010024 OMIM:612644 Deafness, Autosomal Dominant 2B GJB3 Gjb3 het early 48.305 HP:0005101 MP:0004738 OMIM:612651 Endocrine-Cerebroosteodysplasia CILK1 Cilk1 hom early 16.87 HP:0000105 MP:0000274 OMIM:612656 Episodic Ataxia, Type 6 SLC1A3 Slc1a3 het early 26.465 HP:0002131,HP:0002078 MP:0002574 OMIM:612713 Kahrizi Syndrome SRD5A3 Srd5a3 hom embryo 21.675 HP:0004322 MP:0003984 OMIM:612740 Porphyria, Acute Hepatic ALAD Alad het early 20.075 HP:0001878,HP:0003163 MP:0011874,MP:0000709 OMIM:612740 Porphyria, Acute Hepatic ALAD Alad het late 40.05 HP:0001878 MP:0010068 OMIM:612780 Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance KCNJ10 Kcnj10 het early 36.315 HP:0002075,HP:0001251,HP:0002080 MP:0000745,MP:0001488 OMIM:612783 Immunodeficiency 10 STIM1 Stim1 het early 49.765 HP:0001890,HP:0001873,HP:0002716 MP:0000702,MP:0005013,MP:0002339,MP:0000219,MP:0000218 OMIM:612783 Immunodeficiency 10 STIM1 Stim1 het embryo 25.6 HP:0007676 MP:0001297 OMIM:612783 Immunodeficiency 10 STIM1 Stim1 het late 34.025 HP:0007676,HP:0001890,HP:0001873,HP:0002716 MP:0001304,MP:0000691,MP:0000689 OMIM:612783 Immunodeficiency 10 STIM1 Stim1 hom embryo 26.06 HP:0007676 MP:0001297 OMIM:612840 Leukocyte Adhesion Deficiency, Type Iii FERMT3 Fermt3 hom embryo 28.765 HP:0000421 MP:0001914 OMIM:612847 Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes PAPSS2 Papss2 hom embryo 17.05 HP:0001156,HP:0009816,HP:0002979 MP:0002109 OMIM:612877 Cardiomyopathy, Dilated, 1Bb DSG2 Dsg2 hom early 47.01 HP:0033755,HP:0001635,HP:0001644,HP:0012666,HP:0011713 MP:0005140,MP:0002753 OMIM:612923 Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 CFI Cfi hom early 50.825 HP:0003259,HP:0001903,HP:0001937,HP:0003138,HP:0001873 MP:0003179,MP:0002941 OMIM:612924 Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 CFB Cfb hom early 45.58 HP:0100519,HP:0000093,HP:0005575,HP:0003259,HP:0001903,HP:0000790,HP:0001937,HP:0003138,HP:0001919,HP:0001873 MP:0005564,MP:0003131,MP:0000198,MP:0002608,MP:0002135 OMIM:612961 Multiple Synostoses Syndrome 3 FGF9 Fgf9 hom embryo 49.44 HP:0000175 MP:0000111 OMIM:613003 Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 TPH2 Tph2 hom early 51.95 HP:0007018,HP:0000716 MP:0001417 OMIM:613011 Lymphoproliferative Syndrome 1 ITK Itk hom early 47.79 HP:0002240,HP:0001876,HP:0001890,HP:0001973,HP:0001873,HP:0001744,HP:0002716,HP:0001882,HP:0005407,HP:0001903 MP:0000691,MP:0000689 OMIM:613027 Glycogen Storage Disease Ixc PHKG2 Phkg2 het early 14.265 HP:0001744 MP:0002608,MP:0003131,MP:0005564 OMIM:613065 Leukemia, Acute Lymphoblastic FLT3 Flt3 hom early 23.885 HP:0006721 MP:0008045,MP:0013771,MP:0000689 OMIM:613073 Metaphyseal Anadysplasia 2 MMP9 Mmp9 hom early 66.53 HP:0002983,HP:0002979,HP:0003016,HP:0100864,HP:0003025,HP:0002970 MP:0002764 OMIM:613094 Microphthalmia, Isolated 4 GDF6 Gdf6 het early 38.95 HP:0010469,HP:0100259 MP:0000703,MP:0002110,MP:0000709 OMIM:613148 Inflammatory Bowel Disease 28, Autosomal Recessive IL10RA Il10ra hom early 16.09 HP:0009789 MP:0005016,MP:0000219 OMIM:613159 Nephronophthisis-Like Nephropathy 1 XPNPEP3 Xpnpep3 het early 17.83 HP:0000407 MP:0004738 OMIM:613172 Cardiomyopathy, Dilated, 1Dd RBM20 Rbm20 hom early 26.505 HP:0001644 MP:0000277 OMIM:613177 Cutis Laxa, Autosomal Recessive, Type Ic LTBP4 Ltbp4 hom early 30.65 HP:0001747,HP:0001852,HP:0000778,HP:0001541,HP:0001667 MP:0000157,MP:0000691 OMIM:613192 Intellectual Developmental Disorder, Autosomal Recessive 13 TRAPPC9 Trappc9 hom early 17.525 HP:0001956,HP:0000664 MP:0002098,MP:0003961 OMIM:613205 Muscular Dystrophy, Congenital, Lmna-Related LMNA Lmna het early 18.8 HP:0003273,HP:0001771,HP:0001883 MP:0002764 OMIM:613216 Night Blindness, Congenital Stationary, Type 1C TRPM1 Trpm1 hom early 23.395 HP:0007642 MP:0006243 OMIM:613254 Tuberous Sclerosis 2 IFNG Ifng het early 17.43 HP:0012798 MP:0001175 OMIM:613285 Deafness, Autosomal Recessive 25 GRXCR1 Grxcr1 hom early 36.805 HP:0000408,HP:0000365 MP:0004738,MP:0002102 OMIM:613307 Deafness, Autosomal Recessive 79 TPRN Tprn hom early 38.095 HP:0000408,HP:0000407 MP:0004738 OMIM:613345 Hypokalemic Periodic Paralysis, Type 2 SCN4A Scn4a het early 25.915 HP:0002900 MP:0002966,MP:0008806 OMIM:613375 Maturity-Onset Diabetes Of The Young, Type 11 BLK Blk hom early 16.47 HP:0004904 MP:0001147 OMIM:613385 Autoimmune Disease, Multisystem, With Facial Dysmorphism ITCH Itch het early 19.66 HP:0001971,HP:0001744,HP:0001876 MP:0002590 OMIM:613385 Autoimmune Disease, Multisystem, With Facial Dysmorphism ITCH Itch hom early 45.965 HP:0002240,HP:0001876,HP:0001531,HP:0001409,HP:0001971,HP:0001744,HP:0012115,HP:0002020,HP:0000322,HP:0012385,HP:0100651,HP:0001377 MP:0000691,MP:0000063,MP:0004952,MP:0002833,MP:0010025,MP:0003068,MP:0013278,MP:0002100,MP:0000467,MP:0003960,MP:0009342 OMIM:613471 Reynolds Syndrome LBR Lbr hom early 38.365 HP:0003761,HP:0002239,HP:0030880,HP:0001744,HP:0000214,HP:0100869,HP:0002904,HP:0001888 MP:0000702,MP:0005562,MP:0002110,MP:0002966,MP:0010511,MP:0000219,MP:0000220,MP:0005016 OMIM:613477 Developmental And Epileptic Encephalopathy 5 SPTAN1 Sptan1 hom embryo 43.88 HP:0034295,HP:0000252,HP:0002059,HP:0002079,HP:0002120,HP:0000253 MP:0000433 OMIM:613493 Immunodeficiency, Common Variable, 3 CD19 Cd19 hom early 34.87 HP:0030388 MP:0000220,MP:0005016 OMIM:613502 Agammaglobulinemia 4, Autosomal Recessive BLNK Blnk hom early 56.115 HP:0001875,HP:0002843 MP:0000221,MP:0002607,MP:0012361,MP:0005011,MP:0004953,MP:0000219,MP:0000692,MP:0005016 OMIM:613507 Glycogen Storage Disease Xv GYG1 Gyg1 het early 24.765 HP:0031319 MP:0002953 OMIM:613563 Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia CBL Cbl het early 22.365 HP:0001650,HP:0001647,HP:0001653 MP:0002953,MP:0003896 OMIM:613611 Choanal Atresia And Lymphedema PTPN14 Ptpn14 hom early 25.7 HP:0001698 MP:0000274,MP:0000266 OMIM:613630 Fetal Encasement Syndrome CHUK Chuk het early 27.03 HP:0009824,HP:0009816 MP:0002110 OMIM:613670 Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features FOXP1 Foxp1 het early 52.655 HP:0001531,HP:0000718,HP:0001513,HP:0100716,HP:0000722,HP:0007018,HP:0000733,HP:0000732 MP:0001399,MP:0003960 OMIM:613672 Spastic Ataxia 4, Autosomal Recessive MTPAP Mtpap het early 35.035 HP:0002497,HP:0000648,HP:0002070,HP:0002066 MP:0001392,MP:0001102 OMIM:613676 Seckel Syndrome 4 CENPJ Cenpj hom early 44.305 HP:0001525,HP:0010455,HP:0004325 MP:0004609,MP:0005296,MP:0000558,MP:0005108,MP:0003961,MP:0001262,MP:0002932 OMIM:613680 Beaulieu-Boycott-Innes Syndrome THOC6 Thoc6 het early 26.97 HP:0030127 MP:0004832 OMIM:613694 Cardiomyopathy, Dilated, 1U PSEN1 Psen1 hom embryo 40.105 HP:0033755,HP:0011705,HP:0001635,HP:0001644,HP:0012666,HP:0011713,HP:0001279 MP:0001914 OMIM:613697 Cardiomyopathy, Dilated, 1V PSEN2 Psen2 hom early 24.195 HP:0001712,HP:0001644 MP:0000266 OMIM:613703 Microphthalmia, Isolated, With Coloboma 6 GDF6 Gdf6 het early 36.49 HP:0007750,HP:0007766 MP:0001325,MP:0008259,MP:0010097 OMIM:613730 Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts JAM3 Jam3 hom early 27.215 HP:0003811,HP:0000028 MP:0001925,MP:0011110 OMIM:613744 Spastic Paraplegia 51, Autosomal Recessive AP4E1 Ap4e1 hom early 26.88 HP:0025502,HP:0002540,HP:0001371 MP:0003960,MP:0000062,MP:0001402 OMIM:613744 Spastic Paraplegia 51, Autosomal Recessive AP4E1 Ap4e1 hom early 24.43 HP:0025502,HP:0002540,HP:0001371 MP:0003960,MP:0010025,MP:0002757 OMIM:613744 Spastic Paraplegia 51, Autosomal Recessive AP4E1 Ap4e1 hom early 24.49 HP:0002540 MP:0002757 OMIM:613758 Retinitis Pigmentosa 47 SAG Sag hom early 31.87 HP:0000533 MP:0004222 OMIM:613794 Retinitis Pigmentosa 20 RPE65 Rpe65 hom early 41.9 HP:0000510,HP:0007843 MP:0001325,MP:0006243 OMIM:613808 Ciliary Dyskinesia, Primary, 15 CCDC40 Ccdc40 hom early 36.98 HP:0000789,HP:0012208 MP:0001925 OMIM:613834 Multisystemic Smooth Muscle Dysfunction Syndrome ACTA2 Acta2 hom early 18.865 HP:0001631 MP:0002834 OMIM:613861 Retinitis Pigmentosa 59 DHDDS Dhdds het early 24.585 HP:0001257 MP:0000745 OMIM:613886 Obesity, Hyperphagia, And Developmental Delay NTRK2 Ntrk2 het early 19.33 HP:0001513 MP:0003960 OMIM:613960 Granulomatous Disease, Chronic, Autosomal Recessive, 3 NCF4 Ncf4 hom early 29.03 HP:0011227 MP:0008806 OMIM:613970 Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures GRIN2B Grin2b het early 27.98 HP:0001332 MP:0001488 OMIM:613987 Dyskeratosis Congenita, Autosomal Recessive 2 NHP2 Nhp2 het early 33.86 HP:0001876,HP:0001873 MP:0002599 OMIM:614008 Nestor-Guillermo Progeria Syndrome BANF1 Banf1 het early 22.51 HP:0002209,HP:0001596,HP:0000653,HP:0045075,HP:0008404 MP:0000367,MP:0001510 OMIM:614017 Ciliary Dyskinesia, Primary, 16 DNAL1 Dnal1 het early 24.08 HP:0002110 MP:0001175 OMIM:614018 Epilepsy, Progressive Myoclonic, 6 GOSR2 Gosr2 het early 52.475 HP:0002505,HP:0001251,HP:0003236,HP:0002355 MP:0008806,MP:0001406 OMIM:614020 Intellectual Developmental Disorder, Autosomal Recessive 14 TECR Tecr het late 23.88 HP:0000189 MP:0000470 OMIM:614023 Phosphoserine Phosphatase Deficiency PSPH Psph hom embryo 27.88 HP:0001511 MP:0001697 OMIM:614034 Heme Oxygenase 1 Deficiency HMOX1 Hmox1 het embryo 31.025 HP:0000822,HP:0000421,HP:0025420 MP:0001914 OMIM:614034 Heme Oxygenase 1 Deficiency HMOX1 Hmox1 hom embryo 18.275 HP:0001510 MP:0003984 OMIM:614052 Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 TMEM70 Tmem70 het embryo 31.89 HP:0001510,HP:0001537,HP:0001511 MP:0001697,MP:0001700,MP:0003984 OMIM:614052 Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 TMEM70 Tmem70 hom early 21.29 HP:0003811 MP:0011100 OMIM:614052 Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 TMEM70 Tmem70 hom embryo 34.185 HP:0003811,HP:0001537,HP:0001510,HP:0001511 MP:0002884,MP:0001672,MP:0013293,MP:0001691,MP:0001697,MP:0002151,MP:0001700,MP:0003984 OMIM:614065 Myopathy, Distal, 4 FLNC Flnc hom embryo 30.935 HP:0001638 MP:0000266,MP:0000269 OMIM:614069 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 ZBTB24 Zbtb24 het early 16.625 HP:0010976 MP:0010068 OMIM:614074 Hermansky-Pudlak Syndrome 5 HPS5 Hps5 hom early 53.29 HP:0012805,HP:0001107,HP:0001022 MP:0012122,MP:0005102 OMIM:614075 Hermansky-Pudlak Syndrome 6 HPS6 Hps6 hom early 41.48 HP:0011883,HP:0001022,HP:0001107,HP:0030825,HP:0001104,HP:0001010 MP:0000706,MP:0002075,MP:0002546,MP:0001325,MP:0000692 OMIM:614076 Hermansky-Pudlak Syndrome 7 DTNBP1 Dtnbp1 hom early 45.945 HP:0001107,HP:0001022 MP:0001325,MP:0005102,MP:0002075 OMIM:614080 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 PIGN Pign het early 35.62 HP:0000073,HP:0032464,HP:0000034,HP:0000076,HP:0000126 MP:0002135,MP:0001146,MP:0001148,MP:0002989 OMIM:614080 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 PIGN Pign hom embryo 28.445 HP:0002007,HP:0001561 MP:0011495,MP:0001785 OMIM:614083 Fanconi Anemia, Complementation Group L FANCL Fancl hom early 19.295 HP:0000957,HP:0005528,HP:0001903 MP:0005011,MP:0002606,MP:0002075 OMIM:614096 Combined Oxidative Phosphorylation Deficiency 8 AARS2 Aars2 het early 27.865 HP:0001639,HP:0001640 MP:0003921 OMIM:614096 Combined Oxidative Phosphorylation Deficiency 8 AARS2 Aars2 hom early 26.28 HP:0003811 MP:0011100 OMIM:614098 Keppen-Lubinsky Syndrome KCNJ6 Kcnj6 hom early 18.485 HP:0002179 MP:0001523 OMIM:614129 Perrault Syndrome 3 CLPP Clpp hom early 28.44 HP:0000407,HP:0010464,HP:0000815,HP:0000786 MP:0001925,MP:0004738,MP:0001926 OMIM:614162 Immunodeficiency 31C STAT1 Stat1 hom early 46.51 HP:0003347,HP:0000938,HP:0001890,HP:0001744,HP:0002716,HP:0001888 MP:0000702,MP:0005562,MP:0012362,MP:0005013,MP:0005011,MP:0002591,MP:0002606,MP:0000219,MP:0010124,MP:0000220,MP:0005016,MP:0000218 OMIM:614170 Brittle Cornea Syndrome 2 PRDM5 Prdm5 hom early 19.155 HP:0000365 MP:0004738 OMIM:614171 Hermansky-Pudlak Syndrome 9 BLOC1S6 Bloc1s6 hom early 27.065 HP:0001882,HP:0001107,HP:0001010,HP:0001873 MP:0000689,MP:0000691,MP:0002075 OMIM:614172 Immunodeficiency 21 GATA2 Gata2 het early 33.265 HP:0032242 MP:0002631,MP:0001126,MP:0004931,MP:0004727 OMIM:614173 Joubert Syndrome 13 TCTN1 Tctn1 het embryo 24.51 HP:0001302,HP:0001320 MP:0000433 OMIM:614173 Joubert Syndrome 13 TCTN1 Tctn1 hom embryo 24.51 HP:0001302,HP:0001320 MP:0000433 OMIM:614185 Geleophysic Dysplasia 2 FBN1 Fbn1 het early 18.69 HP:0002240 MP:0004952 OMIM:614201 Bleeding Disorder, Platelet-Type, 11 GP6 Gp6 hom early 19.055 HP:0011873 MP:0005013 OMIM:614203 Parkinson Disease 17 VPS35 Vps35 het early 31.815 HP:0002304 MP:0001406 OMIM:614222 Warburg Micro Syndrome 3 RAB18 Rab18 het early 23.625 HP:0000648 MP:0006243 OMIM:614225 Warburg Micro Syndrome 2 RAB3GAP2 Rab3gap2 hom early 39.97 HP:0003196,HP:0000648 MP:0008259,MP:0000443 OMIM:614284 Stickler Syndrome, Type V COL9A2 Col9a2 hom early 20.745 HP:0000407 MP:0004738,MP:0002102 OMIM:614300 Hypermethioninemia Due To Adenosine Kinase Deficiency ADK Adk het early 17.085 HP:0006580,HP:0001397,HP:0001396 MP:0000689 OMIM:614321 Myopathy, Distal, Tateyama Type CAV3 Cav3 hom early 19.295 HP:0003236 MP:0000182 OMIM:614321 Myopathy, Distal, Tateyama Type CAV3 Cav3 hom late 20.53 HP:0031956 MP:0011877 OMIM:614325 Pitt-Hopkins-Like Syndrome 2 NRXN1 Nrxn1 het early 19.34 HP:0002020,HP:0010808 MP:0003883 OMIM:614325 Pitt-Hopkins-Like Syndrome 2 NRXN1 Nrxn1 hom early 23.79 HP:0002883 MP:0005574 OMIM:614388 Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1 DNM1L Dnm1l het early 44.43 HP:0000543,HP:0000648 MP:0008259,MP:0002699,MP:0001289 OMIM:614424 Joubert Syndrome 14 TMEM237 Tmem237 het early 35.495 HP:0001629,HP:0002553,HP:0100259,HP:0025514,HP:0000648,HP:0000737 MP:0000274,MP:0000266,MP:0000627,MP:0001325,MP:0004357,MP:0020421 OMIM:614450 Hypothyroidism, Congenital, Nongoitrous, 6 THRA Thra het early 26.995 HP:0002136,HP:0001374 MP:0002574,MP:0002764 OMIM:614450 Hypothyroidism, Congenital, Nongoitrous, 6 THRA Thra het late 37.805 HP:0001539,HP:0002136,HP:0001903 MP:0002608,MP:0002574,MP:0010025 OMIM:614480 Hypertriglyceridemia, Transient Infantile GPD1 Gpd1 hom early 27.02 HP:0002155 MP:0005553,MP:0000194,MP:0005627,MP:0001566 OMIM:614495 Pseudohypoaldosteronism, Type Iid KLHL3 Klhl3 hom early 56.6 HP:0011423,HP:0002153 MP:0002968,MP:0005627 OMIM:614559 Infantile Cerebellar-Retinal Degeneration ACO2 Aco2 het early 37.055 HP:0001508,HP:0004325 MP:0001262 OMIM:614563 Cortical Dysplasia, Complex, With Other Brain Malformations 13 DYNC1H1 Dync1h1 het early 32.735 HP:0002515,HP:0030051,HP:0001288 MP:0001402 OMIM:614576 Congenital Disorder Of Glycosylation, Type Iil COG6 Cog6 hom early 48.205 HP:0002240,HP:0001876,HP:0003236,HP:0001744,HP:0001396,HP:0001394,HP:0001873 MP:0013154,MP:0013513,MP:0013417,MP:0013511,MP:0005568,MP:0013675,MP:0008182,MP:0013022,MP:0010835,MP:0013426,MP:0000322,MP:0008045,MP:0005018,MP:0010168,MP:0013764,MP:0005642,MP:0005562,MP:0013418,MP:0013522,MP:0002875,MP:0002874,MP:0013519,MP:0008079,MP:0008806,MP:0013157,MP:0013433,MP:0002599,MP:0012767,MP:0002968,MP:0000208,MP:0005343,MP:0009926,MP:0013430,MP:0008040,MP:0008173,MP:0005011,MP:0013772,MP:0013669,MP:0013775,MP:0000220,MP:0013427,MP:0012765,MP:0008097,MP:0013421,MP:0010851,MP:0010067,MP:0008074,MP:0008346,MP:0005344,MP:0008206,MP:0013435,MP:0000218 OMIM:614583 Baraitser-Winter Syndrome 2 ACTG1 Actg1 het embryo 52.255 HP:0005484,HP:0001339,HP:0000568,HP:0001302,HP:0001274 MP:0001297,MP:0001293,MP:0000433 OMIM:614583 Baraitser-Winter Syndrome 2 ACTG1 Actg1 hom embryo 53.08 HP:0004322,HP:0005484,HP:0001339,HP:0000568,HP:0001302,HP:0001274 MP:0001297,MP:0001293,MP:0000433,MP:0003984 OMIM:614602 Trichohepatoenteric Syndrome 2 SKIC2 Skic2 het early 29.83 HP:0040303 MP:0003020,MP:0005568 OMIM:614608 Coffin-Siris Syndrome 3 SMARCB1 Smarcb1 het early 25.675 HP:0002209,HP:0001007,HP:0000527,HP:0000574,HP:0000998 MP:0001510 OMIM:614621 Uv-Sensitive Syndrome 2 ERCC8 Ercc8 hom early 36.08 HP:0010472 MP:0005178,MP:0001556 OMIM:614651 Coenzyme Q10 Deficiency, Primary, 2 PDSS1 Pdss1 het early 26.535 HP:0000648 MP:0001325 OMIM:614652 Coenzyme Q10 Deficiency, Primary, 3 PDSS2 Pdss2 het early 25.32 HP:0003073 MP:0005344 OMIM:614653 Neuropathy, Hereditary Sensory And Autonomic, Type Vi DST Dst het early 17.435 HP:0000573 MP:0001289 OMIM:614653 Neuropathy, Hereditary Sensory And Autonomic, Type Vi DST Dst het embryo 17.86 HP:0001511 MP:0001697 OMIM:614669 Auriculocondylar Syndrome 2A PLCB4 Plcb4 hom early 23.325 HP:0004453,HP:0000358,HP:0008537,HP:0000369,HP:0008559,HP:0000365 MP:0004738 OMIM:614739 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome SERAC1 Serac1 hom early 27.585 HP:0002540 MP:0001402,MP:0002757 OMIM:614800 Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly NBAS Nbas het early 42.5 HP:0000648 MP:0008259,MP:0002792,MP:0001289,MP:0002699,MP:0010097,MP:0001325 OMIM:614807 Myopathy, Centronuclear, 4 CCDC78 Ccdc78 hom early 24.13 HP:0040081 MP:0000195 OMIM:614813 Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis POC1A Poc1a het early 23.975 HP:0000819 MP:0013278 OMIM:614813 Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis POC1A Poc1a hom early 18.085 HP:0000798 MP:0001925,MP:0001926 OMIM:614815 Joubert Syndrome 18 TCTN3 Tctn3 hom embryo 52.035 HP:0002085,HP:0006487,HP:0034044,HP:0100259,HP:0001762,HP:0012385,HP:0001511 MP:0000562,MP:0001697 OMIM:614820 Alternating Hemiplegia Of Childhood 2 ATP1A3 Atp1a3 het early 41.585 HP:0001268,HP:0001251,HP:0001266 MP:0001392,MP:0001415 OMIM:614832 Amelogenesis Imperfecta, Hypomaturation Type, Iia4 ODAPH Odaph hom early 52.99 HP:0006297,HP:0006285,HP:0000705 MP:0002100 OMIM:614833 Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures RTTN Rttn hom embryo 20.11 HP:0003502,HP:0004322 MP:0003984 OMIM:614837 Hypogonadotropic Hypogonadism 8 With Or Without Anosmia KISS1R Kiss1r hom early 62.735 HP:0000938,HP:0000044,HP:0000028,HP:0000786,HP:0000013,HP:0000027,HP:0000054,HP:0008734 MP:0003795,MP:0002059,MP:0003558,MP:0000063,MP:0001926,MP:0003578,MP:0006415,MP:0001120,MP:0002631,MP:0001925,MP:0004727,MP:0002989,MP:0003918,MP:0010124,MP:0002135,MP:0001146,MP:0001126,MP:0003642 OMIM:614840 Hypogonadotropic Hypogonadism 11 With Or Without Anosmia TACR3 Tacr3 hom early 39.17 HP:0000028,HP:0000044,HP:0008734,HP:0000786 MP:0001926 OMIM:614844 Nephronophthisis 14 ZNF423 Zfp423 het early 29.14 HP:0000546 MP:0001289 OMIM:614851 Seckel Syndrome 7 NIN Nin hom early 12.555 HP:0008551 MP:0004738 OMIM:614858 Hypogonadotropic Hypogonadism 14 With Or Without Anosmia WDR11 Wdr11 het late 29.93 HP:0000028,HP:0000044,HP:0008734 MP:0002997,MP:0003642 OMIM:614858 Hypogonadotropic Hypogonadism 14 With Or Without Anosmia WDR11 Wdr11 hom early 26.68 HP:0000028,HP:0000044,HP:0008734,HP:0000786 MP:0009709,MP:0001925,MP:0001120 OMIM:614858 Hypogonadotropic Hypogonadism 14 With Or Without Anosmia WDR11 Wdr11 hom late 36.605 HP:0000028,HP:0000044,HP:0008734 MP:0005313,MP:0002997,MP:0003642 OMIM:614863 Peroxisome Biogenesis Disorder 4B PEX6 Pex6 het early 42.16 HP:0000762,HP:0000648,HP:0000510,HP:0000556 MP:0008259,MP:0002792,MP:0010097,MP:0006243 OMIM:614872 Peroxisome Biogenesis Disorder 7A (Zellweger) PEX26 Pex26 het early 23.755 HP:0002240,HP:0000952 MP:0000691 OMIM:614878 Autoinflammation, Antibody Deficiency, And Immune Dysregulation PLCG2 Plcg2 het early 53.945 HP:0002850,HP:0002720,HP:0030388 MP:0008501,MP:0008499,MP:0005505,MP:0008211,MP:0002874,MP:0002875,MP:0005015,MP:0000208,MP:0008498,MP:0002494 OMIM:614882 Peroxisome Biogenesis Disorder 10A (Zellweger) PEX3 Pex3 hom early 43.305 HP:0010655,HP:0000518 MP:0001312,MP:0000062,MP:0005542 OMIM:614887 Peroxisome Biogenesis Disorder 13A (Zellweger) PEX14 Pex14 het early 25.46 HP:0000627 MP:0011960 OMIM:614887 Peroxisome Biogenesis Disorder 13A (Zellweger) PEX14 Pex14 hom early 22.13 HP:0003811 MP:0011100 OMIM:614898 Spastic Paraplegia 53, Autosomal Recessive VPS37A Vps37a het early 21.895 HP:0000998 MP:0000367 OMIM:614899 Deafness, Autosomal Recessive 93 CABP2 Cabp2 hom early 37.875 HP:0000365 MP:0004738 OMIM:614926 Perrault Syndrome 2 HARS2 Hars2 het early 24.875 HP:0000407 MP:0004738 OMIM:614932 Combined Oxidative Phosphorylation Deficiency 13 PNPT1 Pnpt1 het early 29.215 HP:0001266 MP:0001406 OMIM:614944 Deafness, Autosomal Recessive 84B OTOGL Otogl hom early 33.13 HP:0000407 MP:0004738 OMIM:614945 Deafness, Autosomal Recessive 18B OTOG Otog hom early 33.13 HP:0000407 MP:0004738 OMIM:614946 Combined Oxidative Phosphorylation Deficiency 14 FARS2 Fars2 het early 15.225 HP:0012465 MP:0005343 OMIM:614962 Leptin Deficiency Or Dysfunction LEP Lep hom early 34.22 HP:0002591,HP:0000135,HP:0008734,HP:0000786 MP:0001363,MP:0001925,MP:0001926 OMIM:614963 Leptin Receptor Deficiency LEPR Lepr hom early 35.725 HP:0000819,HP:0000815,HP:0000824,HP:0100738,HP:0000718,HP:0008245,HP:0001513,HP:0000712,HP:0002591 MP:0001926,MP:0001157,MP:0003961,MP:0001925,MP:0001363,MP:0005559,MP:0001417 OMIM:614969 Pontocerebellar Hypoplasia, Type 7 TOE1 Toe1 het early 24.675 HP:0001266,HP:0000054,HP:0002179 MP:0001513,MP:0011436 OMIM:614972 Cholestasis, Intrahepatic, Of Pregnancy 3 ABCB4 Abcb4 hom early 37.125 HP:0200150,HP:0000952,HP:0001406 MP:0002968,MP:0005343,MP:0002941,MP:0000186,MP:0005553,MP:0004952,MP:0005627,MP:0008806,MP:0005344 OMIM:615005 Epilepsy, Nocturnal Frontal Lobe, 5 KCNT1 Kcnt1 hom early 46.68 HP:0000716,HP:0000718 MP:0020870,MP:0001364,MP:0001417 OMIM:615008 Nephrotic Syndrome, Type 7 DGKE Dgke hom early 25.29 HP:0003073 MP:0005554 OMIM:615009 Schuurs-Hoeijmakers Syndrome PACS1 Pacs1 het early 24.59 HP:0000028 MP:0002059 OMIM:615010 Aicardi-Goutieres Syndrome 6 ADAR Adar hom embryo 22.23 HP:0001511 MP:0001697 OMIM:615011 Phosphohydroxylysinuria PHYKPL Phykpl hom early 31.395 HP:0031870 MP:0005554 OMIM:615030 Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum CYP2U1 Cyp2u1 hom early 36.405 HP:0001332 MP:0001513 OMIM:615031 Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay TECPR2 Tecpr2 hom early 28.05 HP:0002064,HP:0001310,HP:0002066 MP:0002574 OMIM:615042 Congenital Disorder Of Glycosylation, Type Iu DPM2 Dpm2 het early 32.495 HP:0003236 MP:0005568 OMIM:615048 Spinal Muscular Atrophy, Jokela Type CHCHD10 Chchd10 hom early 26.82 HP:0003236 MP:0001566 OMIM:615048 Spinal Muscular Atrophy, Jokela Type CHCHD10 Chchd10 hom early 32.175 HP:0003236 MP:0005553,MP:0005565,MP:0005627 OMIM:615072 Brachydactyly, Type A1, C GDF5 Gdf5 hom early 50.77 HP:0001156,HP:0009577,HP:0009439,HP:0001776,HP:0009295,HP:0004220,HP:0009882 MP:0000572,MP:0000550,MP:0000556,MP:0002110 OMIM:615081 Spermatogenic Failure 11 KLHL10 Klhl10 hom early 67.955 HP:0003251,HP:0012864,HP:0012207,HP:0000798 MP:0001925 OMIM:615113 Microphthalmia, Isolated 8 ALDH1A3 Aldh1a3 hom embryo 55.28 HP:0000568,HP:0000528,HP:0000609,HP:0011478 MP:0001297 OMIM:615119 Mitochondrial Complex Iv Deficiency, Nuclear Type 6 COX15 Cox15 het early 30.19 HP:0001638,HP:0001639 MP:0008725,MP:0000266,MP:0002833 OMIM:615122 Lymphoproliferative Syndrome 2 CD27 Cd27 hom early 37.11 HP:0002240,HP:0001876,HP:0001915,HP:0001744,HP:0002716,HP:0001433,HP:0012156 MP:0000274,MP:0000689,MP:0010169 OMIM:615127 Epilepsy, Familial Adult Myoclonic, 4 YEATS2 Yeats2 het late 41.255 HP:0001337 MP:0001513,MP:0001523 OMIM:615147 Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome RBP4 Rbp4 hom early 33.405 HP:0000612,HP:0200070 MP:0001289 OMIM:615155 Steel Syndrome COL27A1 Col27a1 het early 20.75 HP:0009702,HP:0001377 MP:0000062 OMIM:615155 Steel Syndrome COL27A1 Col27a1 hom embryo 19.185 HP:0004322 MP:0003984 OMIM:615182 Combined D-2- And L-2-Hydroxyglutaric Aciduria SLC25A1 Slc25a1 het early 31.615 HP:0000737 MP:0001415 OMIM:615182 Combined D-2- And L-2-Hydroxyglutaric Aciduria SLC25A1 Slc25a1 hom embryo 30.25 HP:0001321,HP:0000252 MP:0000841,MP:0011496 OMIM:615191 Lissencephaly 5 LAMB1 Lamb1 het early 25.87 HP:0000648 MP:0003733 OMIM:615198 Osteosclerotic Metaphyseal Dysplasia LRRK1 Lrrk1 hom early 66.905 HP:0100959,HP:0100255,HP:0011001,HP:0004576,HP:0100923,HP:0001508 MP:0000150,MP:0000062,MP:0004509,MP:0000552,MP:0005296,MP:0002187,MP:0000558,MP:0005108,MP:0003961,MP:0010123,MP:0002764,MP:0000559,MP:0000137,MP:0005298 OMIM:615206 Immunodeficiency 11A CARD11 Card11 hom early 53.525 HP:0012312,HP:0020113 MP:0013763,MP:0000709,MP:0008078,MP:0005013,MP:0010851,MP:0000703,MP:0004953,MP:0013771,MP:0010169,MP:0000689,MP:0005015,MP:0008074,MP:0000692,MP:0013436,MP:0000218 OMIM:615219 Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies MPDZ Mpdz hom early 31.365 HP:0000358,HP:0000407,HP:0000648,HP:0001104,HP:0000567,HP:0001631,HP:0030718 MP:0002792,MP:0002833,MP:0004738,MP:0010097,MP:0001325 OMIM:615235 Cardiomyopathy, Dilated, 1Jj LAMA4 Lama4 hom early 24.9 HP:0001644 MP:0002833 OMIM:615238 Lipodystrophy, Familial Partial, Type 5 CIDEC Cidec hom early 43.655 HP:0001953,HP:0002155,HP:0009125,HP:0030796 MP:0002966,MP:0005178,MP:0013279,MP:0010025 OMIM:615249 Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 POMK Pomk het early 18.96 HP:0001371 MP:0000062 OMIM:615284 Charcot-Marie-Tooth Disease, Type 4B3 SBF1 Sbf1 hom early 17.98 HP:0000020 MP:0002135,MP:0009552,MP:0003068 OMIM:615298 Symphalangism, Proximal, 1B GDF5 Gdf5 hom early 57.235 HP:0004209,HP:0006143,HP:0009536,HP:0009177 MP:0000062,MP:0000572,MP:0000550,MP:0002110,MP:0000556 OMIM:615343 Pulmonary Hypertension, Primary, 3 CAV1 Cav1 hom early 19.45 HP:0005317,HP:0002092,HP:0004890 MP:0005140,MP:0002626 OMIM:615355 Noonan Syndrome 8 RIT1 Rit1 hom early 14.37 HP:0001712 MP:0003068 OMIM:615356 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 TRAPPC11 Trappc11 het early 27.47 HP:0002353,HP:0003236 MP:0005553,MP:0004738 OMIM:615361 Hypocalcemia, Autosomal Dominant 2 GNA11 Gna11 hom early 62.205 HP:0100529,HP:0002901 MP:0000194,MP:0002941,MP:0008805,MP:0000198 OMIM:615368 Lethal Congenital Contracture Syndrome 5 DNM2 Dnm2 het early 38.02 HP:0000762,HP:0003236 MP:0002968,MP:0001102 OMIM:615396 Left Ventricular Noncompaction 10 MYBPC3 Mybpc3 hom early 30.39 HP:0001644,HP:0030682 MP:0000266,MP:0002833 OMIM:615401 Immunodeficiency 8 With Lymphoproliferation CORO1A Coro1a hom early 48.795 HP:0007018 MP:0001399 OMIM:615418 Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive SLC25A4 Slc25a4 hom early 44.595 HP:0003236,HP:0001771,HP:0001712,HP:0003348,HP:0001639 MP:0002968,MP:0003020,MP:0005565,MP:0000194,MP:0002833,MP:0004613 OMIM:615419 Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 NALCN Nalcn het embryo 39.33 HP:0000252 MP:0000433 OMIM:615419 Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 NALCN Nalcn hom embryo 39.33 HP:0000252 MP:0000433 OMIM:615434 Retinitis Pigmentosa 82 With Or Without Situs Inversus ARL2BP Arl2bp hom early 45.05 HP:0000543,HP:0000510,HP:0007401 MP:0008259 OMIM:615458 Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus ADAMTS18 Adamts18 hom early 41.61 HP:0000482,HP:0007787 MP:0001304 OMIM:615465 Hartsfield Syndrome FGFR1 Fgfr1 hom embryo 15.585 HP:0001510 MP:0003984 OMIM:615473 Developmental And Epileptic Encephalopathy 17 GNAO1 Gnao1 het early 30.66 HP:0002305,HP:0002072,HP:0001332 MP:0001523 OMIM:615476 Developmental And Epileptic Encephalopathy 18 SZT2 Szt2 hom embryo 34.97 HP:0001659,HP:0001561,HP:0001562 MP:0001785,MP:0001914 OMIM:615491 Spastic Paraplegia 79B, Autosomal Recessive UCHL1 Uchl1 het early 27.82 HP:0002599,HP:0002174,HP:0002080 MP:0001488 OMIM:615503 Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly DYNC2I1 Dync2i1 hom embryo 22.935 HP:0001629,HP:0004322 MP:0000266,MP:0003984 OMIM:615510 Alacrima, Achalasia, And Impaired Intellectual Development Syndrome GMPPA Gmppa hom early 26.225 HP:0009916,HP:0001251,HP:0002015 MP:0001399,MP:0001314,MP:0002574 OMIM:615523 Corneal Dystrophy, Fuchs Endothelial, 8 AGBL1 Agbl1 hom late 43.615 HP:0001131,HP:0012038 MP:0001304,MP:0001303,MP:0001307,MP:0004222 OMIM:615530 Parkinson Disease 20, Early-Onset SYNJ1 Synj1 het early 44.06 HP:0000658,HP:0004305,HP:0001300,HP:0001337,HP:0002063,HP:0002067,HP:0001332 MP:0000745 OMIM:615547 Schaaf-Yang Syndrome MAGEL2 Magel2 hom early 28.41 HP:0002540 MP:0001392 OMIM:615574 Asparagine Synthetase Deficiency ASNS Asns hom early 17.595 HP:0000609 MP:0005103 OMIM:615575 Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6 FBXO38 Fbxo38 hom early 27.785 HP:0002355 MP:0001402 OMIM:615578 Combined Oxidative Phosphorylation Deficiency 18 SFXN4 Sfxn4 hom early 27.74 HP:0001972,HP:0004821 MP:0000221 OMIM:615597 Congenital Disorder Of Glycosylation, Type Ix STT3B Stt3b het early 22.59 HP:0001873 MP:0005562 OMIM:615597 Congenital Disorder Of Glycosylation, Type Ix STT3B Stt3b hom embryo 34.595 HP:0001511 MP:0003984 OMIM:615604 L-Ferritin Deficiency FTL Ftl1 hom late 30.17 HP:0012343 MP:0004152 OMIM:615605 Fanconi Renotubular Syndrome 3 EHHADH Ehhadh hom early 21.015 HP:0003259 MP:0005627 OMIM:615630 Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly IFT172 Ift172 het early 37.91 HP:0001162,HP:0010230,HP:0002857,HP:0003026,HP:0000546,HP:0001156 MP:0010097,MP:0002110 OMIM:615630 Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly IFT172 Ift172 hom embryo 27.075 HP:0000238,HP:0001629,HP:0004322 MP:0000288,MP:0000266,MP:0003720,MP:0003984 OMIM:615637 Intellectual Developmental Disorder, Autosomal Recessive 41 KPTN Kptn hom early 13.81 HP:0001744 MP:0002874 OMIM:615663 Warburg Micro Syndrome 4 TBC1D20 Tbc1d20 hom early 16.51 HP:0000028,HP:0008734 MP:0001925 OMIM:615673 Myopathy With Extrapyramidal Signs MICU1 Micu1 hom early 45.32 HP:0002240,HP:0001251,HP:0001744,HP:0001974,HP:0001266,HP:0002355 MP:0001392,MP:0000691,MP:0001406 OMIM:615683 Spastic Paraplegia 64, Autosomal Recessive ENTPD1 Entpd1 hom early 29.05 HP:0001257,HP:0001258 MP:0000745 OMIM:615685 Spastic Paraplegia 61, Autosomal Recessive ARL6IP1 Arl6ip1 hom early 62.185 HP:0002540,HP:0012407 MP:0001406 OMIM:615703 Morbid Obesity And Spermatogenic Failure CEP19 Cep19 hom early 18.6 HP:0001513 MP:0003961 OMIM:615710 Mitchell-Riley Syndrome RFX6 Rfx6 het early 34.685 HP:0003074,HP:0000819 MP:0005293 OMIM:615722 Bosch-Boonstra-Schaaf Optic Atrophy Syndrome NR2F1 Nr2f1 het early 20.91 HP:0000543,HP:0009909,HP:0000648,HP:0000411,HP:0000395,HP:0011261 MP:0004738 OMIM:615723 Premature Ovarian Failure 8 STAG3 Stag3 hom early 39.36 HP:0010464,HP:0008209,HP:0011969,HP:0000786,HP:0100615,HP:0008214,HP:0008232 MP:0001147,MP:0001925,MP:0001926 OMIM:615761 Intellectual Developmental Disorder, Autosomal Dominant 23 SETD5 Setd5 het early 43.865 HP:0000219,HP:0000960,HP:0000678,HP:0003307,HP:0000347,HP:0002808,HP:0000664,HP:0000294,HP:0000431,HP:0002714,HP:0002650,HP:0000369,HP:0000319,HP:0000343 MP:0004609,MP:0000443,MP:0002075,MP:0004738,MP:0005358,MP:0000455,MP:0002100 OMIM:615777 Desbuquois Dysplasia 2 XYLT1 Xylt1 hom embryo 16.06 HP:0010049,HP:0033102,HP:0002673,HP:0003016,HP:0004233,HP:0012725,HP:0001863,HP:0009803,HP:0011304,HP:0002970 MP:0002109 OMIM:615789 Short Stature With Microcephaly And Distinctive Facies CRIPT Cript het early 31.27 HP:0004823,HP:0001903 MP:0005562 OMIM:615817 Intellectual Developmental Disorder, Autosomal Recessive 43 WASHC4 Washc4 het early 35.315 HP:0100716 MP:0001399 OMIM:615821 Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis DSP Dsp hom embryo 21.715 HP:0001644 MP:0000266 OMIM:615829 Xia-Gibbs Syndrome AHDC1 Ahdc1 het early 15.57 HP:0001508 MP:0003961 OMIM:615834 Intellectual Developmental Disorder, Autosomal Dominant 26 AUTS2 Auts2 het early 18.19 HP:0001518 MP:0003960 OMIM:615846 Aicardi-Goutieres Syndrome 7 IFIH1 Ifih1 hom early 16.54 HP:0003281 MP:0010092 OMIM:615851 Pontocerebellar Hypoplasia, Type 2E VPS53 Vps53 het early 27.91 HP:0002650 MP:0004599 OMIM:615871 Developmental And Epileptic Encephalopathy 24 HCN1 Hcn1 hom early 37.215 HP:0001251,HP:0007018 MP:0001417,MP:0001402,MP:0000745,MP:0001392,MP:0001406 OMIM:615877 Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome MAB21L2 Mab21l2 het early 46.655 HP:0000568,HP:0000528 MP:0001293 OMIM:615877 Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome MAB21L2 Mab21l2 het embryo 41.635 HP:0000568,HP:0000528,HP:0008905 MP:0001297,MP:0003984 OMIM:615879 Tatton-Brown-Rahman Syndrome DNMT3A Dnmt3a het early 33.835 HP:0001250,HP:0002373,HP:0001537,HP:0004442 MP:0003795,MP:0000947,MP:0010024 OMIM:615879 Tatton-Brown-Rahman Syndrome DNMT3A Dnmt3a hom embryo 12.825 HP:0001537 MP:0001697 OMIM:615917 Combined Oxidative Phosphorylation Deficiency 20 VARS2 Vars2 het early 21.06 HP:0001639 MP:0003394 OMIM:615918 Combined Oxidative Phosphorylation Deficiency 21 TARS2 Tars2 hom early 26.885 HP:0003811 MP:0011100 OMIM:615918 Combined Oxidative Phosphorylation Deficiency 21 TARS2 Tars2 hom embryo 26.9 HP:0003811 MP:0013292,MP:0013293 OMIM:615923 Epiphyseal Chondrodysplasia, Miura Type NPR2 Npr2 hom early 36.67 HP:0010055,HP:0001166,HP:0005769,HP:0031424,HP:0001847 MP:0002966,MP:0000550,MP:0000556 OMIM:615924 Encephalopathy, Progressive, With Or Without Lipodystrophy BSCL2 Bscl2 hom early 40.83 HP:0000752,HP:0002155,HP:0001251 MP:0002968,MP:0002941,MP:0005343,MP:0000194,MP:0005568,MP:0005178,MP:0001402,MP:0001566,MP:0001556,MP:0011941,MP:0011939,MP:0002965,MP:0001406 OMIM:615948 Orofaciodigital Syndrome Xiv C2CD3 C2cd3 het early 16.1 HP:0012583,HP:0000039,HP:0000054,HP:0000028 MP:0011874,MP:0001120 OMIM:615948 Orofaciodigital Syndrome Xiv C2CD3 C2cd3 hom embryo 12.075 HP:0002085 MP:0001697,MP:0003984 OMIM:615960 Poretti-Boltshauser Syndrome LAMA1 Lama1 het early 43.825 HP:0030329,HP:0001105,HP:0000556 MP:0001325,MP:0001289 OMIM:615961 Acid-Labile Subunit Deficiency IGFALS Igfals hom early 33.435 HP:0045046 MP:0005178 OMIM:615966 Immunodeficiency 26 With Or Without Neurologic Abnormalities PRKDC Prkdc hom early 45.375 HP:0005403,HP:0010976,HP:0012176 MP:0005642,MP:0000221,MP:0005011,MP:0000219,MP:0000220,MP:0005016 OMIM:615980 Lipodystrophy, Familial Partial, Type 6 LIPE Lipe hom early 29.425 HP:0000855,HP:0000819 MP:0002079 OMIM:615981 Bardet-Biedl Syndrome 2 BBS2 Bbs2 het early 18.94 HP:0001513 MP:0003961 OMIM:615983 Bardet-Biedl Syndrome 5 BBS5 Bbs5 hom early 40.09 HP:0001159,HP:0001513,HP:0010442,HP:0007754,HP:0000510,HP:0001156 MP:0003961,MP:0001325,MP:0002764 OMIM:615989 Bardet-Biedl Syndrome 12 BBS12 Bbs12 het early 14.985 HP:0031500 MP:0000691 OMIM:616026 Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young HNF4A Hnf4a het early 22.645 HP:0003537,HP:0002148 MP:0005344,MP:0005178,MP:0001556 OMIM:616026 Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young HNF4A Hnf4a het late 38.76 HP:0000819,HP:0001943,HP:0003076 MP:0005292,MP:0005355 OMIM:616026 Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young HNF4A Hnf4a het middle 23.26 HP:0001520 MP:0001262 OMIM:616029 Ectodermal Dysplasia/Short Stature Syndrome GRHL2 Grhl2 het early 22.035 HP:0002015 MP:0020421 OMIM:616029 Ectodermal Dysplasia/Short Stature Syndrome GRHL2 Grhl2 hom embryo 19.08 HP:0000982,HP:0004322 MP:0000564,MP:0003984 OMIM:616033 Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 TRMT10A Trmt10a hom early 39.775 HP:0001388,HP:0000939 MP:0000062 OMIM:616034 2,4-Dienoyl-Coa Reductase Deficiency NADK2 Nadk2 het early 21.605 HP:0000648 MP:0001289 OMIM:616042 Deafness, Autosomal Recessive 103 CLIC5 Clic5 hom early 36.27 HP:0008568 MP:0001489 OMIM:616045 Combined Oxidative Phosphorylation Deficiency 22 ATP5F1A Atp5f1a het early 35.175 HP:0001508 MP:0001262 OMIM:616056 Developmental And Epileptic Encephalopathy 26 KCNB1 Kcnb1 hom early 30.085 HP:0012171 MP:0001399 OMIM:616084 Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay TRNT1 Trnt1 het early 35.71 HP:0001924,HP:0001744,HP:0001981,HP:0004840,HP:0010976,HP:0000510 MP:0005103,MP:0002591 OMIM:616111 Mitochondrial Complex Iii Deficiency, Nuclear Type 9 UQCC3 Uqcc3 hom embryo 21.57 HP:0008897 MP:0003984 OMIM:616113 Polyendocrine-Polyneuropathy Syndrome DMXL2 Dmxl2 het early 15.445 HP:0040217 MP:0005179 OMIM:616118 Macular Degeneration, Early-Onset FBN2 Fbn2 hom early 37.66 HP:0000608,HP:0011506 MP:0008259,MP:0006241,MP:0010097 OMIM:616139 Developmental And Epileptic Encephalopathy 27 GRIN2B Grin2b het early 30.395 HP:0001332 MP:0001488 OMIM:616145 Catel-Manzke Syndrome TGDS Tgds het early 30.7 HP:0000028 MP:0001146,MP:0001148 OMIM:616145 Catel-Manzke Syndrome TGDS Tgds het embryo 16.745 HP:0001537 MP:0001711 OMIM:616145 Catel-Manzke Syndrome TGDS Tgds hom embryo 25.61 HP:0001537,HP:0002623,HP:0001629,HP:0001651 MP:0000269,MP:0001691,MP:0000266,MP:0002151,MP:0001700 OMIM:616165 Nemaline Myopathy 10 LMOD3 Lmod3 hom early 36.285 HP:0003202,HP:0010628,HP:0012548,HP:0001371,HP:0002803,HP:0003798 MP:0000759,MP:0000063,MP:0010024,MP:0010025 OMIM:616170 Macular Dystrophy With Central Cone Involvement MFSD8 Mfsd8 hom early 45.04 HP:0007754,HP:0000543,HP:0030629,HP:0011504 MP:0001325,MP:0002792,MP:0006243 OMIM:616187 Epilepsy, Progressive Myoclonic 7 KCNC1 Kcnc1 hom early 39.825 HP:0001268,HP:0001251 MP:0002574,MP:0001415 OMIM:616209 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 Chchd10 hom early 27.64 HP:0003236 MP:0001566 OMIM:616209 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 Chchd10 hom early 33.255 HP:0003236 MP:0005553,MP:0005565,MP:0005627 OMIM:616216 Thrombocytopenia 5 ETV6 Etv6 het early 50.995 HP:0004812,HP:0001903,HP:0005518,HP:0001875,HP:0001873 MP:0003179,MP:0002875,MP:0012362 OMIM:616216 Thrombocytopenia 5 ETV6 Etv6 het late 15.585 HP:0004812,HP:0001903,HP:0005518,HP:0001875,HP:0001873 MP:0004952 OMIM:616221 Amelogenesis Imperfecta, Type Ih ITGB6 Itgb6 hom early 65.005 HP:0009722,HP:0009102,HP:0006286,HP:0006297,HP:0000705 MP:0013129,MP:0002100 OMIM:616224 Myasthenic Syndrome, Congenital, 22 PREPL Prepl hom early 46.35 HP:0002515,HP:0000508 MP:0005176,MP:0005287,MP:0001406 OMIM:616231 Myopathy, Vacuolar, With Casq1 Aggregates CASQ1 Casq1 hom early 48.59 HP:0003236 MP:0005554,MP:0005568 OMIM:616266 Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay NALCN Nalcn het embryo 36.215 HP:0003273,HP:0001840,HP:0001848,HP:0002987,HP:0002059,HP:0001762,HP:0012385,HP:0001537,HP:0001181 MP:0003054,MP:0000562,MP:0000564,MP:0000433 OMIM:616266 Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay NALCN Nalcn hom embryo 36.215 HP:0003273,HP:0001840,HP:0001848,HP:0002987,HP:0002059,HP:0001762,HP:0012385,HP:0001537,HP:0001181 MP:0003054,MP:0000562,MP:0000564,MP:0000433 OMIM:616278 Bile Acid Synthesis Defect, Congenital, 5 ABCD3 Abcd3 hom early 34.085 HP:0012202,HP:0025196,HP:0002904 MP:0002968,MP:0000194,MP:0005568 OMIM:616278 Bile Acid Synthesis Defect, Congenital, 5 ABCD3 Abcd3 hom late 32.815 HP:0012202,HP:0025196,HP:0002904 MP:0002968,MP:0000194 OMIM:616294 Cole-Carpenter Syndrome 2 SEC24D Sec24d het early 14.995 HP:0000218 MP:0000470 OMIM:616329 Maturity-Onset Diabetes Of The Young, Type 13 KCNJ11 Kcnj11 hom early 60.285 HP:0000819,HP:0040217,HP:0004904,HP:0009800,HP:0003074 MP:0013278,MP:0005293,MP:0002874 OMIM:616346 Developmental And Epileptic Encephalopathy 31A DNM1 Dnm1 het embryo 22.04 HP:0002506 MP:0000433 OMIM:616346 Developmental And Epileptic Encephalopathy 31A DNM1 Dnm1 hom embryo 22.04 HP:0002506 MP:0000433 OMIM:616354 Spinocerebellar Ataxia, Autosomal Recessive 20 SNX14 Snx14 het early 13.315 HP:0001744 MP:0002599 OMIM:616368 Chops Syndrome AFF4 Aff4 het early 26.08 HP:0000076,HP:0004602,HP:0000085 MP:0002135,MP:0002759,MP:0002989 OMIM:616368 Chops Syndrome AFF4 Aff4 hom embryo 17.035 HP:0004322 MP:0003984 OMIM:616394 Retinitis Pigmentosa 71 IFT172 Ift172 het early 50.36 HP:0000543,HP:0012426,HP:0030629,HP:0000510,HP:0007843 MP:0010097 OMIM:616410 Spinocerebellar Ataxia 41 TRPC3 Trpc3 het early 49.185 HP:0002317,HP:0001251,HP:0002066 MP:0003313,MP:0001406 OMIM:616415 Familial Adenomatous Polyposis 3 NTHL1 Nthl1 hom early 18.455 HP:0006725 MP:0000601,MP:0000689,MP:0000691,MP:0000598 OMIM:616418 Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 CNNM2 Cnnm2 het embryo 42.255 HP:0100954,HP:0000252 MP:0000433 OMIM:616418 Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 CNNM2 Cnnm2 hom embryo 41.22 HP:0100954,HP:0000252 MP:0011496,MP:0000433 OMIM:616428 Microphthalmia, Isolated, With Coloboma 10 RBP4 Rbp4 hom early 38.86 HP:0000612,HP:0000567 MP:0001289 OMIM:616430 Combined Oxidative Phosphorylation Deficiency 25 MARS2 Mars2 het early 15.565 HP:0001508 MP:0003961 OMIM:616433 Immunodeficiency 40 DOCK2 Dock2 hom early 22.375 HP:0005403,HP:0001403,HP:0001873,HP:0002240 MP:0004952 OMIM:616449 Basel-Vanagaite-Smirin-Yosef Syndrome MED25 Med25 het early 20.84 HP:0000369,HP:0000023,HP:0004691,HP:0009909 MP:0004738,MP:0010024,MP:0002764 OMIM:616452 B-Cell Expansion With Nfkb And T-Cell Anergy CARD11 Card11 hom early 55.545 HP:0001744,HP:0005404 MP:0013763,MP:0000709,MP:0008078,MP:0005013,MP:0010851,MP:0000703,MP:0004953,MP:0013771,MP:0010169,MP:0000689,MP:0005015,MP:0008074,MP:0000692,MP:0013436,MP:0000218 OMIM:616494 Leukodystrophy, Hypomyelinating, 11 POLR1C Polr1c het late 36.505 HP:0001337,HP:0001251 MP:0001513,MP:0001523 OMIM:616507 Osteogenesis Imperfecta, Type Xvii SPARC Sparc hom early 49.945 HP:0001388,HP:0003865,HP:0002757,HP:0000703,HP:0000939,HP:0002827,HP:0004349,HP:0006470,HP:0006086 MP:0000063,MP:0005296,MP:0000558,MP:0010096,MP:0010124,MP:0002100 OMIM:616509 Cataract 44 LSS Lss het early 65.75 HP:0000519 MP:0001303 OMIM:616549 Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism MYO18B Myo18b het early 13.21 HP:0000369 MP:0004738 OMIM:616562 Retinitis Pigmentosa 74 BBS2 Bbs2 het early 16.265 HP:0001513 MP:0003961 OMIM:616576 Immunodeficiency, Common Variable, 12, With Autoimmunity NFKB1 Nfkb1 hom early 33.76 HP:0001596,HP:0001890,HP:0001873 MP:0002075,MP:0000218,MP:0005562 OMIM:616579 Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features CHAMP1 Champ1 het early 22.815 HP:0002066 MP:0001402 OMIM:616579 Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features CHAMP1 Champ1 hom embryo 15.475 HP:0001537 MP:0003984 OMIM:616592 Kosaki Overgrowth Syndrome PDGFRB Pdgfrb het early 14.68 HP:0001114 MP:0001552 OMIM:616640 Epilepsy, Progressive Myoclonic, 10 PRDM8 Prdm8 hom early 22.96 HP:0002497,HP:0002073,HP:0001251 MP:0001402 OMIM:616649 Spherocytosis, Type 2 SPTB Sptb het early 57.125 HP:0001878,HP:0001923,HP:0001927,HP:0001744,HP:0004444 MP:0003131,MP:0002591,MP:0005562 OMIM:616668 Charcot-Marie-Tooth Disease, Axonal, Type 2X SPG11 Spg11 hom early 32.05 HP:0001239,HP:0002174,HP:0006466 MP:0001488,MP:0010024 OMIM:616672 Combined Oxidative Phosphorylation Deficiency 27 CARS2 Cars2 het early 26.845 HP:0001332,HP:0002179 MP:0001513 OMIM:616680 Spastic Paraplegia 75, Autosomal Recessive MAG Mag hom early 31.22 HP:0002505,HP:0000648,HP:0002064,HP:0001310 MP:0001402,MP:0004738 OMIM:616689 Dehydrated Hereditary Stomatocytosis 2 KCNN4 Kcnn4 hom early 52.285 HP:0002240,HP:0001878,HP:0001923,HP:0001927,HP:0001744,HP:0000952,HP:0025548,HP:0004823,HP:0005518,HP:0001894,HP:0020122 MP:0000601,MP:0000706,MP:0000691,MP:0000709,MP:0004952,MP:0002875,MP:0000598,MP:0010067,MP:0000703,MP:0000689 OMIM:616707 Deafness, Autosomal Dominant 68 HOMER2 Homer2 hom early 35.585 HP:0000407 MP:0004738 OMIM:616708 Desanto-Shinawi Syndrome WAC Wac het early 20.89 HP:0000470 MP:0004613 OMIM:616728 Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features KDM1A Kdm1a het early 12.875 HP:0000041 MP:0002989 OMIM:616737 Takenouchi-Kosaki Syndrome CDC42 Cdc42 het early 28.985 HP:0000648,HP:0000047,HP:0000126,HP:0000122 MP:0003068,MP:0001325 OMIM:616738 Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 MECOM Mecom het early 38.145 HP:0001873,HP:0001905,HP:0001903,HP:0001875 MP:0002875,MP:0002874 OMIM:616738 Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 MECOM Mecom het early 54.96 HP:0001873,HP:0001905,HP:0001903,HP:0001875 MP:0003179 OMIM:616740 Immunodeficiency 46 TFRC Tfrc het early 49.41 HP:0001875,HP:0001903,HP:0004854 MP:0005642,MP:0005562,MP:0012362,MP:0003131,MP:0002591,MP:0002874,MP:0010067 OMIM:616784 Joubert Syndrome 26 KATNIP Katnip het early 35.205 HP:0000054,HP:0000871,HP:0000824,HP:0011787 MP:0002631,MP:0004931,MP:0000639 OMIM:616795 Spinocerebellar Ataxia 42 CACNA1G Cacna1g hom early 33.965 HP:0100543,HP:0000716 MP:0001415 OMIM:616812 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 BVES Bves hom early 25.46 HP:0002505,HP:0002355 MP:0001402 OMIM:616831 Luscan-Lumish Syndrome SETD2 Setd2 hom early 17.865 HP:0001833,HP:0004233 MP:0002764 OMIM:616840 Parkinson Disease 23, Autosomal Recessive Early-Onset VPS13C Vps13c hom late 24.595 HP:0002304 MP:0001402 OMIM:616843 Lymphatic Malformation 6 PIEZO1 Piezo1 hom embryo 16.565 HP:0004322 MP:0003984 OMIM:616849 Brachydactyly, Type A1, D BMPR1B Bmpr1b hom early 32.135 HP:0009638,HP:0010241,HP:0004220,HP:0009568,HP:0009650,HP:0004209,HP:0009566 MP:0000572 OMIM:616867 Spinal Muscular Atrophy With Congenital Bone Fractures 2 ASCC1 Ascc1 het early 22.33 HP:0001655 MP:0002953 OMIM:616896 Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) OPA1 Opa1 hom embryo 22.9 HP:0001639 MP:0000266 OMIM:616913 Bleeding Disorder, Platelet-Type, 20 SLFN14 Slfn14 hom early 44.57 HP:0001873 MP:0005561,MP:0005641,MP:0002591,MP:0010067,MP:0000208,MP:0002599 OMIM:616921 Dyskinesia, Limb And Orofacial, Infantile-Onset PDE10A Pde10a hom early 32.675 HP:0002317 MP:0001402 OMIM:616924 Charcot-Marie-Tooth Disease, Axonal, Type 2Cc NEFH Nefh hom early 38.165 HP:0003236 MP:0002941 OMIM:616937 Thrombocytopenia 6 SRC Src het early 23.535 HP:0001873 MP:0005562 OMIM:616944 Intellectual Developmental Disorder, Autosomal Dominant 41 TBL1XR1 Tbl1xr1 het early 13.755 HP:0000574 MP:0001284 OMIM:616944 Intellectual Developmental Disorder, Autosomal Dominant 41 TBL1XR1 Tbl1xr1 hom early 34.475 HP:0002521 MP:0004738 OMIM:616947 Premature Ovarian Failure 12 SYCE1 Syce1 hom early 38.61 HP:0000786 MP:0001925,MP:0001926 OMIM:616950 Spermatogenic Failure 15 SYCE1 Syce1 hom early 53.59 HP:0003251,HP:0011961,HP:0031038 MP:0001925,MP:0001926 OMIM:616959 Retinitis Pigmentosa And Erythrocytic Microcytosis TRNT1 Trnt1 het early 46.415 HP:0000543,HP:0001105,HP:0007722,HP:0011273,HP:0100014,HP:0025066,HP:0004445,HP:0004447,HP:0030609,HP:0001903 MP:0005103,MP:0002591 OMIM:616973 Intellectual Developmental Disorder, Autosomal Dominant 42 GNB1 Gnb1 het early 35.18 HP:0000718,HP:0002540,HP:0100035,HP:0007018,HP:0002015,HP:0100034 MP:0001399,MP:0001364,MP:0002574 OMIM:616981 Developmental And Epileptic Encephalopathy 37 FRRS1L Frrs1l hom early 44.68 HP:0001266,HP:0001288 MP:0001392,MP:0001513,MP:0001406 OMIM:617011 Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation HERC1 Herc1 hom early 18.76 HP:0001388,HP:0000358,HP:0001520,HP:0000369,HP:0000400 MP:0003961,MP:0004738,MP:0000063 OMIM:617020 Developmental And Epileptic Encephalopathy 38 ARV1 Arv1 hom early 33.575 HP:0000737,HP:0002521 MP:0004738,MP:0002797 OMIM:617022 Lethal Congenital Contracture Syndrome 10 NEK9 Nek9 het early 13.545 HP:0000778 MP:0000218 OMIM:617047 Cardiomyopathy, Familial Hypertrophic, 26 FLNC Flnc hom embryo 30.26 HP:0001639,HP:0031295,HP:0030718 MP:0000266,MP:0000269 OMIM:617049 Cholestasis, Progressive Familial Intrahepatic, 5 NR1H4 Nr1h4 hom early 37.3 HP:0002908,HP:0001987,HP:0006254 MP:0002968,MP:0005343,MP:0002941,MP:0005178,MP:0001552,MP:0001556,MP:0005419 OMIM:617052 Bone Marrow Failure Syndrome 3 DNAJC21 Dnajc21 het early 23.565 HP:0100255,HP:0001374,HP:0000347 MP:0002764 OMIM:617063 Meier-Gorlin Syndrome 7 CDC45 Cdc45 het early 23.395 HP:0045074 MP:0005287 OMIM:617070 Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 DGUOK Dguok hom early 32.305 HP:0000726 MP:0001417 OMIM:617087 Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B MFN2 Mfn2 het early 38.93 HP:0002355 MP:0001406 OMIM:617099 Autoinflammation, Panniculitis, And Dermatosis Syndrome OTULIN Otulin het early 29.87 HP:0011897,HP:0001974,HP:0032219,HP:0002716 MP:0000689 OMIM:617100 Familial Adenomatous Polyposis 4 MSH3 Msh3 hom early 30.455 HP:0000107 MP:0003068,MP:0002135 OMIM:617102 Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly IFT52 Ift52 het embryo 19.02 HP:0004322 MP:0003984 OMIM:617107 Thauvin-Robinet-Faivre Syndrome FIBP Fibp het early 18.445 HP:0410255 MP:0005561,MP:0002875 OMIM:617114 Myopathy, Myofibrillar, 7 KY Ky hom early 29.74 HP:0002355 MP:0001406 OMIM:617121 Joubert Syndrome 28 MKS1 Mks1 het early 12.32 HP:0002553 MP:0000579 OMIM:617143 Myasthenic Syndrome, Congenital, 20, Presynaptic SLC5A7 Slc5a7 het early 15.075 HP:0002804 MP:0010025 OMIM:617146 Arthrogryposis, Distal, With Impaired Proprioception And Touch PIEZO2 Piezo2 het early 26.73 HP:0002540,HP:0002136,HP:0003236 MP:0001552,MP:0002574 OMIM:617157 Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures PRMT7 Prmt7 hom early 14.095 HP:0001508,HP:0001513 MP:0003961 OMIM:617158 Myopathy, Distal, With Rimmed Vacuoles SQSTM1 Sqstm1 hom early 46.13 HP:0003236 MP:0002968,MP:0005179,MP:0000186,MP:0000183 OMIM:617162 Developmental And Epileptic Encephalopathy 46 GRIN2D Grin2d hom early 17.77 HP:0001508 MP:0003961 OMIM:617164 Short Stature-Micrognathia Syndrome ARCN1 Arcn1 het early 19.14 HP:0001629 MP:0002833 OMIM:617166 Developmental And Epileptic Encephalopathy 47 FGF12 Fgf12 hom early 27.11 HP:0000713 MP:0020870 OMIM:617168 Aortic Aneurysm, Familial Thoracic 10 LOX Lox het early 25.145 HP:0001712,HP:0002650 MP:0002759,MP:0000691 OMIM:617180 Chitayat Syndrome ERF Erf het early 20.085 HP:0012471 MP:0002100 OMIM:617180 Chitayat Syndrome ERF Erf het embryo 19.345 HP:0004322 MP:0003984 OMIM:617184 Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant SLC25A4 Slc25a4 hom early 21.76 HP:0001639 MP:0002833 OMIM:617186 Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 NAXE Naxe hom early 27.23 HP:0001337,HP:0000473 MP:0001489 OMIM:617187 Spermatogenic Failure 16 SUN5 Sun5 hom early 59.615 HP:0003251,HP:0012869,HP:0012207 MP:0001925 OMIM:617187 Spermatogenic Failure 16 SUN5 Sun5 hom late 39.11 HP:0003251,HP:0012869,HP:0012207 MP:0001146,MP:0001148,MP:0002997 OMIM:617201 Periventricular Nodular Heterotopia 7 NEDD4L Nedd4l hom early 30.59 HP:0000543,HP:0000407,HP:0001251,HP:0002521 MP:0001325,MP:0001402,MP:0004738 OMIM:617228 Combined Oxidative Phosphorylation Deficiency 31 MIPEP Mipep het early 21.64 HP:0003348 MP:0002965 OMIM:617234 Oocyte/Zygote/Embryo Maturation Arrest 16 PADI6 Padi6 hom early 81.72 HP:0000789 MP:0001926 OMIM:617235 Myoclonus, Intractable, Neonatal KIF5A Kif5a het early 29.375 HP:0000543,HP:0002305 MP:0004738,MP:0006243 OMIM:617235 Myoclonus, Intractable, Neonatal KIF5A Kif5a hom embryo 26.555 HP:0002305 MP:0001491 OMIM:617237 Immunodeficiency 49 BCL11B Bcl11b hom embryo 30.88 HP:0000582,HP:0012745 MP:0009263 OMIM:617248 3-Methylglutaconic Aciduria, Type Viii HTRA2 Htra2 hom early 19.55 HP:0003811 MP:0011110 OMIM:617253 Seckel Syndrome 10 NSMCE2 Nsmce2 het embryo 16.105 HP:0003510 MP:0003984 OMIM:617253 Seckel Syndrome 10 NSMCE2 Nsmce2 hom embryo 15.91 HP:0003510 MP:0003984 OMIM:617258 Myopathy, Myofibrillar, 8 PYROXD1 Pyroxd1 het early 20.185 HP:0002359,HP:0000218,HP:0002015 MP:0000745,MP:0000470 OMIM:617260 Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies ZNF148 Zfp148 het early 19.09 HP:0000107 MP:0002135 OMIM:617271 Nephronophthisis 20 MAPKBP1 Mapkbp1 hom early 42.975 HP:0000083,HP:0003774,HP:0000107,HP:0000090,HP:0000076 MP:0003917 OMIM:617276 Developmental And Epileptic Encephalopathy 48 AP3B2 Ap3b2 hom early 22.08 HP:0002509 MP:0000745 OMIM:617282 Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities MECR Mecr het early 42.05 HP:0001251,HP:0000643,HP:0002305,HP:0001288,HP:0001332,HP:0002505,HP:0012179 MP:0005316,MP:0001406 OMIM:617303 Mucopolysaccharidosis-Plus Syndrome VPS33A Vps33a het early 44.675 HP:0002240,HP:0001873,HP:0001744,HP:0001882,HP:0001639,HP:0001403,HP:0005528,HP:0001875,HP:0001631,HP:0000105,HP:0001903 MP:0004952,MP:0002833,MP:0010067,MP:0000219,MP:0005016 OMIM:617303 Mucopolysaccharidosis-Plus Syndrome VPS33A Vps33a het late 54.66 HP:0002240,HP:0000093,HP:0001744,HP:0003016,HP:0001217,HP:0000100,HP:0002869,HP:0000097,HP:0000092,HP:0008807,HP:0000123,HP:0000105 MP:0000157,MP:0003068,MP:0011874,MP:0002764 OMIM:617333 Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis BRPF1 Brpf1 het early 22.04 HP:0004602,HP:0001382,HP:0012385 MP:0000063 OMIM:617370 Peroxisome Biogenesis Disorder 10B PEX3 Pex3 hom early 31.075 HP:0000518 MP:0001312,MP:0005542 OMIM:617384 Hyperphenylalaninemia, Mild, Non-Bh4-Deficient DNAJC12 Dnajc12 het early 26.28 HP:0007018 MP:0001364 OMIM:617389 Developmental And Epileptic Encephalopathy 53 SYNJ1 Synj1 het early 34.935 HP:0002510,HP:0001332 MP:0000745 OMIM:617395 Congenital Disorder Of Glycosylation, Type Iiq COG2 Cog2 het early 35.525 HP:0010837,HP:0011967 MP:0005632,MP:0001554 OMIM:617425 Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities EXTL3 Extl3 het late 28.795 HP:0001888,HP:0001880,HP:0001407 MP:0000689,MP:0000691,MP:0000599,MP:0000598 OMIM:617433 Retinitis Pigmentosa 78 ARHGEF18 Arhgef18 het early 35.365 HP:0000543,HP:0011505 MP:0001325 OMIM:617441 Thrombocytopenia, Anemia, And Myelofibrosis MPIG6B Mpig6b hom early 56.145 HP:0001903,HP:0001744,HP:0004823,HP:0001873 MP:0000691,MP:0003179,MP:0004952,MP:0000689,MP:0002599 OMIM:617468 Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect LGI4 Lgi4 het embryo 30.66 HP:0003273,HP:0003691,HP:0006659,HP:0002987,HP:0001762,HP:0012385 MP:0000564 OMIM:617468 Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect LGI4 Lgi4 hom early 25.965 HP:0003826 MP:0011100 OMIM:617468 Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect LGI4 Lgi4 hom embryo 30.66 HP:0003273,HP:0003691,HP:0006659,HP:0002987,HP:0001762,HP:0012385 MP:0000564 OMIM:617475 Specific Granule Deficiency 2 SMARCD2 Smarcd2 het early 35.96 HP:0012551,HP:0001873,HP:0001903,HP:0001875 MP:0002590 OMIM:617493 Neurodevelopmental Disorder With Involuntary Movements GNAO1 Gnao1 het early 33.73 HP:0002072,HP:0002015,HP:0100716,HP:0002305,HP:0001332 MP:0001399,MP:0001364,MP:0001523 OMIM:617575 Reni Syndrome SGPL1 Sgpl1 het early 40.895 HP:0000028,HP:0000135,HP:0000846,HP:0000054,HP:0000821 MP:0001147,MP:0001146,MP:0004931,MP:0002631 OMIM:617593 Spermatogenic Failure 20 CFAP44 Cfap44 hom early 75.565 HP:0003251,HP:0032558,HP:0032559,HP:0032560 MP:0001925 OMIM:617595 Birk-Landau-Perez Syndrome SLC30A9 Slc30a9 het embryo 32.54 HP:0001510,HP:0001511 MP:0001697,MP:0003984 OMIM:617595 Birk-Landau-Perez Syndrome SLC30A9 Slc30a9 hom embryo 31.715 HP:0001510,HP:0001511 MP:0003984,MP:0001697 OMIM:617598 Mosaic Variegated Aneuploidy Syndrome 3 TRIP13 Trip13 het early 33.575 HP:0000510 MP:0001325 OMIM:617598 Mosaic Variegated Aneuploidy Syndrome 3 TRIP13 Trip13 hom early 15.885 HP:0007429 MP:0005102 OMIM:617598 Mosaic Variegated Aneuploidy Syndrome 3 TRIP13 Trip13 hom late 30.055 HP:0007429,HP:0002804,HP:0000510 MP:0010024,MP:0000063,MP:0010097,MP:0002075 OMIM:617598 Mosaic Variegated Aneuploidy Syndrome 3 TRIP13 Trip13 hom early 20.73 HP:0002804 MP:0000063 OMIM:617610 Polycystic Kidney Disease 5 DZIP1L Dzip1l het early 22.88 HP:0000822 MP:0005333 OMIM:617610 Polycystic Kidney Disease 5 DZIP1L Dzip1l hom embryo 24.01 HP:0000822 MP:0001914 OMIM:617635 Intellectual Developmental Disorder, Autosomal Dominant 47 STAG1 Stag1 het early 16.565 HP:0000028 MP:0009084 OMIM:617635 Intellectual Developmental Disorder, Autosomal Dominant 47 STAG1 Stag1 het late 24.16 HP:0000028,HP:0002558 MP:0002997 OMIM:617635 Intellectual Developmental Disorder, Autosomal Dominant 47 STAG1 Stag1 hom embryo 35.8 HP:0001511,HP:0010880 MP:0001785,MP:0003984 OMIM:617637 Deafness, Autosomal Recessive 106 EPS8L2 Eps8l2 hom early 25.135 HP:0000365 MP:0002102 OMIM:617638 Immunodeficiency 11B With Atopic Dermatitis CARD11 Card11 hom early 33.645 HP:0001880 MP:0013763,MP:0000709,MP:0008078,MP:0005013,MP:0010851,MP:0000703,MP:0004953,MP:0013771,MP:0010169,MP:0000689,MP:0005015,MP:0008074,MP:0000692,MP:0013436,MP:0000218 OMIM:617642 Polydactyly, Postaxial, Type A7 IQCE Iqce hom early 42.455 HP:0001830,HP:0001162,HP:0004704,HP:0005709 MP:0002764 OMIM:617662 Joint Laxity, Short Stature, And Myopia GZF1 Gzf1 het early 26.95 HP:0000612 MP:0001303 OMIM:617662 Joint Laxity, Short Stature, And Myopia GZF1 Gzf1 hom early 22.325 HP:0001762,HP:0000365 MP:0004738,MP:0002764 OMIM:617675 Myopathy, Mitochondrial, And Ataxia MSTO1 Msto1 het early 19.105 HP:0003236,HP:0000870 MP:0001552,MP:0002059 OMIM:617698 3-Methylglutaconic Aciduria, Type Ix TIMM50 Timm50 het early 27.65 HP:0001508,HP:0000648 MP:0003960,MP:0003731,MP:0011965 OMIM:617718 Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia ARPC1B Arpc1b hom early 60.445 HP:0001873,HP:0011227,HP:0100827,HP:0005537 MP:0013768,MP:0012768,MP:0005568,MP:0013675,MP:0013667,MP:0010835,MP:0008045,MP:0010168,MP:0005562,MP:0000194,MP:0013514,MP:0013157,MP:0005419,MP:0013433,MP:0002599,MP:0009926,MP:0013430,MP:0013654,MP:0013772,MP:0002966,MP:0013775,MP:0013427,MP:0008075,MP:0008097,MP:0005505,MP:0010067,MP:0013672,MP:0003884,MP:0000218 OMIM:617721 Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 9 WARS1 Wars1 het late 46.36 HP:0002355 MP:0001406 OMIM:617744 Immunodeficiency, Developmental Delay, And Hypohomocysteinemia NFE2L2 Nfe2l2 hom early 53.82 HP:0012101,HP:0001508,HP:0020222,HP:0500152 MP:0002968,MP:0005343,MP:0005553,MP:0001566,MP:0001262 OMIM:617746 Sweeney-Cox Syndrome TWIST1 Twist1 het early 35.175 HP:0010709,HP:0005650,HP:0000347,HP:0100807,HP:0000349,HP:0000294,HP:0001776,HP:0000894,HP:0010715,HP:0002230,HP:0009882 MP:0000572,MP:0002110,MP:0005270,MP:0000579,MP:0004509 OMIM:617751 Intellectual Developmental Disorder, Autosomal Dominant 48 RAC1 Rac1 het early 45.445 HP:0000752,HP:0001629,HP:0001647,HP:0000047,HP:0000733 MP:0002188,MP:0001147,MP:0000266,MP:0002989,MP:0001399,MP:0001146 OMIM:617757 Joubert Syndrome 32 SUFU Sufu hom embryo 11 HP:0001830,HP:0001162 MP:0005650 OMIM:617767 Joubert Syndrome 33 PIBF1 Pibf1 het early 22.13 HP:0001744 MP:0002833 OMIM:617780 Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia MTHFD1 Mthfd1 het early 20.06 HP:0002160 MP:0005419 OMIM:617788 Intellectual Developmental Disorder, Autosomal Dominant 51 KMT5B Kmt5b het early 31.695 HP:0001508 MP:0001262 OMIM:617788 Intellectual Developmental Disorder, Autosomal Dominant 51 KMT5B Kmt5b hom early 31.92 HP:0001508 MP:0001262 OMIM:617796 Intellectual Developmental Disorder, Autosomal Dominant 52 ASH1L Ash1l het early 15.61 HP:0000664,HP:0000294 MP:0001510 OMIM:617799 Intellectual Developmental Disorder, Autosomal Dominant 54 CAMK2B Camk2b het early 33.555 HP:0001251,HP:0000718,HP:0002540,HP:0000737,HP:0003763 MP:0020870,MP:0001364,MP:0001399,MP:0002757 OMIM:617800 Microcephaly 19, Primary, Autosomal Recessive COPB2 Copb2 het early 25.05 HP:0001531,HP:0004325 MP:0003960 OMIM:617804 Neurodevelopmental Disorder With Variable Motor And Language Impairment DHX30 Dhx30 het early 26.785 HP:0002540,HP:0001251,HP:0001332 MP:0001488,MP:0001402 OMIM:617810 Glycosylphosphatidylinositol Biosynthesis Defect 15 GPAA1 Gpaa1 het early 24.89 HP:0000648 MP:0002792 OMIM:617821 Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 COL1A2 Col1a2 hom early 24.91 HP:0001822,HP:0001187,HP:0002827,HP:0001075,HP:0001762,HP:0001382 MP:0000559,MP:0000062,MP:0000558,MP:0010025 OMIM:617822 Alkuraya-Kucinskas Syndrome BLTP1 Bltp1 het early 40.295 HP:0001698,HP:0000518 MP:0002833,MP:0001304,MP:0001303 OMIM:617836 Developmental Delay And Seizures With Or Without Movement Abnormalities DHDDS Dhdds het early 54.31 HP:0001251,HP:0001337,HP:0002063,HP:0002067,HP:0001332 MP:0000745 OMIM:617866 Short-Rib Thoracic Dysplasia 18 With Polydactyly IFT43 Ift43 hom embryo 36.225 HP:0000238,HP:0000476 MP:0002884,MP:0003232,MP:0006108,MP:0003864,MP:0002151,MP:0003720 OMIM:617885 Body Mass Index Quantitative Trait Locus 19 ADCY3 Adcy3 het early 17.5 HP:0001513 MP:0003961 OMIM:617898 Multiple Synostoses Syndrome 4 GDF6 Gdf6 het early 33.68 HP:0001845,HP:0008368,HP:0001156 MP:0002110 OMIM:617913 Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities GEMIN4 Gemin4 het early 21 HP:0002902,HP:0003761,HP:0002900,HP:0002901 MP:0002968,MP:0005178,MP:0001556,MP:0005568 OMIM:617948 Elliptocytosis 3 SPTB Sptb het early 51.295 HP:0025066,HP:0004839,HP:0004445,HP:0004870 MP:0003131,MP:0002591,MP:0005562 OMIM:617952 Osteogenesis Imperfecta, Type Xviii TENT5A Tent5a hom early 52.43 HP:0006487,HP:0000347,HP:0000164,HP:0002980,HP:0000883,HP:0004586,HP:0002645,HP:0002953,HP:0040160,HP:0002753 MP:0000150,MP:0003795,MP:0004509,MP:0000552,MP:0005296,MP:0002187,MP:0000558,MP:0005108,MP:0000458,MP:0004174,MP:0000149,MP:0000161,MP:0002764,MP:0000559,MP:0002932,MP:0002100 OMIM:617959 Spermatogenic Failure 24 CFAP69 Cfap69 hom early 34.87 HP:0032560,HP:0032562,HP:0032561,HP:0032559,HP:0012207 MP:0001925 OMIM:617964 Leukodystrophy, Hypomyelinating, 16 TMEM106B Tmem106b hom early 25.55 HP:0000543 MP:0003733 OMIM:617965 Spermatogenic Failure 27 AK7 Ak7 het early 40.47 HP:0003251,HP:0032560,HP:0033525,HP:0032558,HP:0032559,HP:0012207 MP:0001147,MP:0001146,MP:0001126 OMIM:617974 Spondyloepimetaphyseal Dysplasia, Di Rocco Type UFSP2 Ufsp2 het embryo 37.35 HP:0100255,HP:0002979,HP:0001216,HP:0008833,HP:0002970 MP:0000562,MP:0000564 OMIM:617988 Jaberi-Elahi Syndrome GTPBP2 Gtpbp2 hom early 21.42 HP:0000648 MP:0002792 OMIM:617991 Chung-Jansen Syndrome PHIP Phip het early 42.735 HP:0000028,HP:0007018,HP:0100710,HP:0000718 MP:0001399,MP:0002637 OMIM:618000 Ehlers-Danlos Syndrome, Classic-Like, 2 AEBP1 Aebp1 het early 21.97 HP:0001634 MP:0000274,MP:0000266 OMIM:618010 Glycosylphosphatidylinositol Biosynthesis Defect 17 PIGH Pigh het early 21.865 HP:0002155 MP:0005633 OMIM:618012 Developmental And Epileptic Encephalopathy 93 ATP6V1A Atp6v1a het early 24.6 HP:0000648 MP:0003733 OMIM:618019 Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly LBR Lbr hom early 42.44 HP:0002980,HP:0006380,HP:0010047,HP:0002986,HP:0010055,HP:0008905,HP:0005692,HP:0100864,HP:0003021,HP:0003025,HP:0003865,HP:0011447,HP:0003015,HP:0012385,HP:0009826,HP:0001377,HP:0010044,HP:0001156,HP:0100255,HP:0002857,HP:0003026 MP:0000550,MP:0000063,MP:0005562,MP:0002110,MP:0000219,MP:0002764,MP:0000220,MP:0005016 OMIM:618027 Coffin-Siris Syndrome 7 DPF2 Dpf2 hom embryo 33.445 HP:0001156,HP:0001629,HP:0001647,HP:0001561,HP:0004209,HP:0001655,HP:0001562 MP:0001785,MP:0000266,MP:0002109 OMIM:618036 Charcot-Marie-Tooth Disease, Axonal, Type 2Dd ATP1A1 Atp1a1 het early 39.035 HP:0003693,HP:0009027 MP:0000759 OMIM:618050 Intellectual Developmental Disorder, Autosomal Dominant 57 TLK2 Tlk2 het early 18.85 HP:0001363 MP:0003795,MP:0010123 OMIM:618052 Cardiomyopathy, Familial Hypertrophic, 27 ALPK3 Alpk3 hom early 63 HP:0001657,HP:0005180,HP:0001695,HP:0001640,HP:0025168,HP:0001635,HP:0005157,HP:0005144,HP:0006670,HP:0031319,HP:0001653,HP:0001706,HP:0001639,HP:0001667 MP:0000274,MP:0005140,MP:0002833,MP:0010579,MP:0002753,MP:0002953 OMIM:618067 Developmental And Epileptic Encephalopathy 66 PACS2 Pacs2 hom early 35.33 HP:0004209,HP:0001903,HP:0001875 MP:0002764,MP:0002874 OMIM:618088 Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures IRF2BPL Irf2bpl het early 34.48 HP:0001266,HP:0002505,HP:0001251,HP:0001310 MP:0001402 OMIM:618089 Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities FBXO11 Fbxo11 het early 43.32 HP:0000752,HP:0001513 MP:0003961,MP:0003960,MP:0001399 OMIM:618089 Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities FBXO11 Fbxo11 het early 47.09 HP:0001763,HP:0000752,HP:0001852,HP:0001182,HP:0200055,HP:0001773,HP:0030084 MP:0001399,MP:0002764 OMIM:618090 Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum LNPK Lnpk hom early 59.13 HP:0000752,HP:0001337,HP:0002540,HP:0001310,HP:0002066,HP:0001288 MP:0001399,MP:0001488,MP:0002574 OMIM:618091 Spermatogenic Failure 29 SPINK2 Spink2 hom early 70.85 HP:0011961,HP:0003251,HP:0012208 MP:0002631,MP:0001925 OMIM:618092 Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities BCL11B Bcl11b het early 26.14 HP:0002317 MP:0002574 OMIM:618092 Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities BCL11B Bcl11b hom embryo 37.435 HP:0000286,HP:0045074,HP:0012745 MP:0009263 OMIM:618107 Osteopetrosis, Autosomal Dominant 3 PLEKHM1 Plekhm1 hom early 38.615 HP:0000938,HP:0002757 MP:0000062,MP:0010123 OMIM:618116 Bone Marrow Failure Syndrome 4 MYSM1 Mysm1 het early 36.265 HP:0001882,HP:0001873,HP:0001903 MP:0002590 OMIM:618116 Bone Marrow Failure Syndrome 4 MYSM1 Mysm1 hom early 47.6 HP:0008905,HP:0004313,HP:0001903,HP:0001882,HP:0005528,HP:0001873 MP:0000208,MP:0005564,MP:0000572,MP:0002590,MP:0008501,MP:0000221,MP:0005505,MP:0005017,MP:0005641,MP:0002875,MP:0002874,MP:0008211,MP:0008074,MP:0008502,MP:0000556,MP:0002492,MP:0005015,MP:0000322 OMIM:618145 Deafness, Autosomal Recessive 111 MPZL2 Mpzl2 hom early 24.8 HP:0000408 MP:0002102 OMIM:618162 Spondyloepimetaphyseal Dysplasia, Krakow Type SIK3 Sik3 hom early 32.83 HP:0008905,HP:0034391,HP:0003049,HP:0000767,HP:0004691,HP:0006380,HP:0010582,HP:0002694,HP:0003027,HP:0004209,HP:0008788,HP:0003025,HP:0001156 MP:0000150,MP:0003795,MP:0000552,MP:0005296,MP:0002187,MP:0000558,MP:0005108,MP:0010025,MP:0004509,MP:0000559,MP:0002932 OMIM:618164 Cardiac, Facial, And Digital Anomalies With Developmental Delay TRAF7 Traf7 het early 21.72 HP:0000648 MP:0001325 OMIM:618165 Bone Marrow Failure Syndrome 5 TP53 Trp53 hom early 17.725 HP:0001903,HP:0012133,HP:0012410 MP:0012362 OMIM:618182 Orthostatic Hypotension 2 CYB561 Cyb561 hom early 34.91 HP:0001903 MP:0005564,MP:0003131,MP:0002608 OMIM:618182 Orthostatic Hypotension 2 CYB561 Cyb561 hom early 39.61 HP:0001943 MP:0013278,MP:0005560 OMIM:618184 Neuropathy, Congenital Hypomyelinating, 2 MPZ Mpz hom early 42.37 HP:0002540 MP:0001402,MP:0001406 OMIM:618187 Ovarian Dysgenesis 8 ESR2 Esr2 hom early 39.425 HP:0003782,HP:0000939 MP:0003961,MP:0000063,MP:0010124 OMIM:618205 Snijders Blok-Campeau Syndrome CHD3 Chd3 hom early 37.59 HP:0000733,HP:0007018 MP:0001399 OMIM:618219 Polydactyly, Postaxial, Type A9 CIBAR1 Cibar1 hom early 30.235 HP:0001830,HP:0001162 MP:0005296 OMIM:618220 Retinitis Pigmentosa 84 DHX38 Dhx38 het early 17.25 HP:0007737 MP:0002075 OMIM:618221 Intellectual Developmental Disorder, Autosomal Recessive 66 FERRY3 D6Wsu163e hom early 38.71 HP:0001388,HP:0007018,HP:0000718 MP:0000063,MP:0011939 OMIM:618226 Mitochondrial Complex I Deficiency, Nuclear Type 5 NDUFS1 Ndufs1 het early 37.36 HP:0001254,HP:0001251 MP:0001402,MP:0002757 OMIM:618230 Mitochondrial Complex I Deficiency, Nuclear Type 8 NDUFS3 Ndufs3 het early 18.795 HP:0025258 MP:0000062 OMIM:618232 Mitochondrial Complex I Deficiency, Nuclear Type 9 NDUFS6 Ndufs6 hom early 25.105 HP:0003811 MP:0011100 OMIM:618232 Mitochondrial Complex I Deficiency, Nuclear Type 9 NDUFS6 Ndufs6 hom embryo 25.105 HP:0003811 MP:0002080 OMIM:618254 Ciliary Dyskinesia, Primary, 39 LRRC56 Lrrc56 hom early 53.525 HP:0001651,HP:0002783,HP:0001719,HP:0002110 MP:0001175,MP:0006065 OMIM:618265 Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development PPP3CA Ppp3ca hom early 25.845 HP:0002804,HP:0004325 MP:0010024,MP:0001260 OMIM:618272 Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor DICER1 Dicer1 het early 17.27 HP:0001520 MP:0003961 OMIM:618280 Cardiac-Urogenital Syndrome MYRF Myrf het embryo 12.5 HP:0010479 MP:0001697,MP:0003984 OMIM:618280 Cardiac-Urogenital Syndrome MYRF Myrf hom embryo 12.785 HP:0010479 MP:0001697,MP:0001700,MP:0003984 OMIM:618298 Developmental And Epileptic Encephalopathy 70 PHACTR1 Phactr1 hom late 28.445 HP:0000028 MP:0002997,MP:0002059 OMIM:618329 Combined Oxidative Phosphorylation Deficiency 37 MICOS13 Micos13 het early 23.455 HP:0003348,HP:0003073 MP:0005554,MP:0005179,MP:0000186,MP:0000198 OMIM:618347 Galloway-Mowat Syndrome 6 WDR4 Wdr4 het early 22.095 HP:0004209 MP:0004357 OMIM:618358 Cone-Rod Dystrophy And Hearing Loss 2 CEP250 Cep250 hom early 25.675 HP:0001757 MP:0004738 OMIM:618362 Coffin-Siris Syndrome 8 SMARCC2 Smarcc2 het early 33.28 HP:0100716,HP:0000752,HP:0000718 MP:0020870 OMIM:618369 Spinocerebellar Ataxia, Autosomal Recessive 27 GDAP2 Gdap2 hom early 23.21 HP:0000473 MP:0006358 OMIM:618371 Turnpenny-Fry Syndrome PCGF2 Pcgf2 het early 23.065 HP:0005659,HP:0002938 MP:0003049 OMIM:618373 Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma SASH1 Sash1 het early 12.78 HP:0000524 MP:0011962 OMIM:618374 Developmental And Epileptic Encephalopathy 72 NEUROD2 Neurod2 hom early 41.015 HP:0002540,HP:0002015 MP:0011940,MP:0002757,MP:0002797,MP:0001402,MP:0001363,MP:0001399,MP:0001392 OMIM:618384 Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate SLC13A3 Slc13a3 hom early 26.3 HP:0032272 MP:0005553 OMIM:618394 Immunodeficiency 60 And Autoimmunity BACH2 Bach2 hom early 55.805 HP:0001744,HP:0001876,HP:0030374,HP:0031808 MP:0013154,MP:0010838,MP:0013022,MP:0010835,MP:0013426,MP:0008174,MP:0013424,MP:0013649,MP:0005425,MP:0005017,MP:0013514,MP:0013157,MP:0010850,MP:0013433,MP:0012767,MP:0013430,MP:0008214,MP:0013025,MP:0013654,MP:0005011,MP:0013772,MP:0004974,MP:0000220,MP:0013651,MP:0013427,MP:0005505,MP:0008044,MP:0008211,MP:0010851,MP:0000219,MP:0013435,MP:0013517 OMIM:618394 Immunodeficiency 60 And Autoimmunity BACH2 Bach2 hom early 50.42 HP:0001876,HP:0001744,HP:0002110,HP:0031808,HP:0030374 MP:0013513,MP:0013675,MP:0008168,MP:0008182,MP:0005573,MP:0000322,MP:0008045,MP:0008174,MP:0013649,MP:0008039,MP:0005017,MP:0008207,MP:0013514,MP:0010850,MP:0008040,MP:0008190,MP:0005011,MP:0013669,MP:0000220,MP:0013510,MP:0013435 OMIM:618397 Combined Oxidative Phosphorylation Deficiency 39 GFM2 Gfm2 het early 15.405 HP:0100651 MP:0000639 OMIM:618398 T-Cell Lymphoma, Subcutaneous Panniculitis-Like HAVCR2 Havcr2 hom early 42.83 HP:0001744,HP:0001876,HP:0012156,HP:0001903 MP:0000274,MP:0004952 OMIM:618400 Charcot-Marie-Tooth Disease, Axonal, Type 2Ee MPV17 Mpv17 hom early 25.775 HP:0008180 MP:0005565 OMIM:618419 Myoectodermal Gonadal Dysgenesis Syndrome PPP2R3C Ppp2r3c het early 12.315 HP:0001747 MP:0002599 OMIM:618430 Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities TCF20 Tcf20 hom early 16.645 HP:0001513 MP:0003961 OMIM:618438 Spastic Ataxia 9, Autosomal Recessive CHP1 Chp1 het embryo 21.175 HP:0001510 MP:0003984 OMIM:618438 Spastic Ataxia 9, Autosomal Recessive CHP1 Chp1 hom embryo 21.075 HP:0001510 MP:0003984 OMIM:618440 Oculoskeletodental Syndrome PIK3C2A Pik3c2a het early 25.38 HP:0001744 MP:0000702,MP:0005016,MP:0000219 OMIM:618440 Oculoskeletodental Syndrome PIK3C2A Pik3c2a hom embryo 17.56 HP:0004322 MP:0003984 OMIM:618449 Ciliary Dyskinesia, Primary, 41 GAS2L2 Gas2l2 hom early 48.385 HP:0000789,HP:0012208 MP:0001925,MP:0001926 OMIM:618459 Immunodeficiency 62 ARHGEF1 Arhgef1 hom early 56.31 HP:0030381,HP:0030374,HP:0010976,HP:0001973 MP:0010838,MP:0013417,MP:0008524,MP:0013666,MP:0008182,MP:0010835,MP:0005564,MP:0013522,MP:0008127,MP:0008079,MP:0010850,MP:0013433,MP:0012767,MP:0013673,MP:0013025,MP:0002608,MP:0013669,MP:0000220,MP:0003131,MP:0008074,MP:0008346,MP:0013679 OMIM:618468 Developmental And Epileptic Encephalopathy 76 ACTL6B Actl6b het early 34.82 HP:0010841 MP:0004738 OMIM:618494 Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies ATN1 Atn1 hom early 37.455 HP:0001629,HP:0002540,HP:0001627,HP:0001631,HP:0001655 MP:0000266,MP:0001406 OMIM:618497 Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements CACNA1B Cacna1b hom early 46.18 HP:0001266,HP:0002540,HP:0012171,HP:0003763 MP:0020870,MP:0001364,MP:0001399,MP:0001392,MP:0001406 OMIM:618501 Cerebellar Atrophy With Seizures And Variable Developmental Delay CACNA2D2 Cacna2d2 hom early 47.11 HP:0001251,HP:0002540,HP:0002072,HP:0001310,HP:0002066 MP:0000745,MP:0001406 OMIM:618504 Intellectual Developmental Disorder, Autosomal Recessive 71 ALKBH8 Alkbh8 hom early 22.72 HP:0000054,HP:0000122 MP:0002135 OMIM:618506 Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies SOX4 Sox4 hom embryo 26.08 HP:0001629 MP:0000266 OMIM:618523 Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections IL6ST Il6st het early 16.35 HP:0001880 MP:0005641 OMIM:618529 Robinow Syndrome, Autosomal Recessive 2 NXN Nxn het early 39.76 HP:0010055,HP:0001852,HP:0000347,HP:0000431,HP:0012385,HP:0000527,HP:0003027,HP:0001212,HP:0030084,HP:0011304,HP:0003196,HP:0001156 MP:0000443,MP:0002110,MP:0000627,MP:0001340,MP:0002764 OMIM:618529 Robinow Syndrome, Autosomal Recessive 2 NXN Nxn het embryo 38.07 HP:0004482,HP:0010055,HP:0001852,HP:0003027,HP:0012385,HP:0001212,HP:0030084,HP:0011304,HP:0001156 MP:0000564,MP:0000433 OMIM:618529 Robinow Syndrome, Autosomal Recessive 2 NXN Nxn hom embryo 51.29 HP:0004482,HP:0002007,HP:0010055,HP:0000185,HP:0001852,HP:0000164,HP:0030084,HP:0000212,HP:0003027,HP:0012385,HP:0011304,HP:0000343,HP:0001212,HP:0000207,HP:0011800,HP:0010292,HP:0001156 MP:0011495,MP:0000564,MP:0000111,MP:0000433 OMIM:618529 Robinow Syndrome, Autosomal Recessive 2 NXN Nxn hom embryo 38.68 HP:0000185,HP:0000164,HP:0000212,HP:0000343,HP:0000207,HP:0010292 MP:0000111 OMIM:618529 Robinow Syndrome, Autosomal Recessive 2 NXN Nxn hom embryo 37.05 HP:0002007,HP:0011800 MP:0011495 OMIM:618535 Ectodermal Dysplasia 15, Hypohidrotic/Hair Type CST6 Cst6 het early 13 HP:0000982 MP:0002110 OMIM:618548 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 PIGQ Pigq het early 28.695 HP:0000483 MP:0011960,MP:0011962 OMIM:618548 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 PIGQ Pigq hom embryo 26.32 HP:0001561,HP:0009909 MP:0001785,MP:0009806 OMIM:618557 Developmental And Epileptic Encephalopathy 78 GABRA2 Gabra2 hom early 27.58 HP:0002540 MP:0001402 OMIM:618557 Developmental And Epileptic Encephalopathy 78 GABRA2 Gabra2 hom late 28.445 HP:0002540 MP:0001402 OMIM:618590 Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis PIGU Pigu het early 41.22 HP:0000238 MP:0001891 OMIM:618624 Noonan Syndrome 12 RRAS2 Rras2 hom early 40 HP:0000878,HP:0001888,HP:0000824,HP:0001873 MP:0000703,MP:0008044,MP:0010099,MP:0000709 OMIM:618625 Rothmund-Thomson Syndrome, Type 1 ANAPC1 Anapc1 het late 42.12 HP:0001118 MP:0001303 OMIM:618641 Infantile Liver Failure Syndrome 3 RINT1 Rint1 het early 24.555 HP:0001987 MP:0005344,MP:0000195,MP:0005567,MP:0005419 OMIM:618643 Spermatogenic Failure 39 DNAH17 Dnah17 hom early 69.525 HP:0003251,HP:0000798,HP:0032560,HP:0032562,HP:0032558,HP:0032559,HP:0012207 MP:0001925 OMIM:618651 Halperin-Birk Syndrome SEC31A Sec31a het early 25.385 HP:0002540 MP:0001392 OMIM:618653 Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies DDX6 Ddx6 het early 19.535 HP:0000076,HP:0000054,HP:0000125,HP:0000126 MP:0002135 OMIM:618660 Hemolytic Anemia Due To Glutathione Reductase Deficiency GSR Gsr hom early 19.39 HP:0004814 MP:0000691,MP:0000689 OMIM:618665 Intellectual Developmental Disorder, Autosomal Recessive 72 METTL5 Mettl5 het early 14.16 HP:0000400,HP:0000358,HP:0000369 MP:0004738 OMIM:618665 Intellectual Developmental Disorder, Autosomal Recessive 72 METTL5 Mettl5 hom early 38.61 HP:0000358,HP:0000718,HP:0000369,HP:0007018,HP:0000400 MP:0020870,MP:0001364,MP:0004738,MP:0001399 OMIM:618683 Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 ATP5MK Atp5mk hom early 29.68 HP:0001251 MP:0001406 OMIM:618688 Leukodystrophy, Hypomyelinating, 19, Transient Infantile TMEM63A Tmem63a hom early 32.815 HP:0001251,HP:0001310 MP:0001406 OMIM:618697 Retinitis Pigmentosa 87 With Choroidal Involvement RPE65 Rpe65 hom early 47.21 HP:0000580,HP:0007737,HP:0000533,HP:0030505 MP:0001317,MP:0001325,MP:0006243 OMIM:618709 Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures DLL1 Dll1 het early 48.265 HP:0001251,HP:0000733,HP:0007018 MP:0001399,MP:0001362,MP:0002862,MP:0002757 OMIM:618721 Developmental And Epileptic Encephalopathy 82 GOT2 Got2 het embryo 21.075 HP:0004322 MP:0003984 OMIM:618721 Developmental And Epileptic Encephalopathy 82 GOT2 Got2 hom embryo 19.6 HP:0004322 MP:0003984 OMIM:618723 Premature Ovarian Failure 16 BNC1 Bnc1 hom early 42.475 HP:0008209,HP:0033085 MP:0001926 OMIM:618723 Premature Ovarian Failure 16 BNC1 Bnc1 hom late 19.815 HP:0033085,HP:0008209,HP:0008214,HP:0008232 MP:0001147,MP:0002059 OMIM:618724 Heyn-Sproul-Jackson Syndrome DNMT3A Dnmt3a het early 19.545 HP:0004325 MP:0003961 OMIM:618724 Heyn-Sproul-Jackson Syndrome DNMT3A Dnmt3a hom embryo 23.815 HP:0001511 MP:0001697 OMIM:618729 Liang-Wang Syndrome KCNMA1 Kcnma1 hom early 32.59 HP:0001251,HP:0001332 MP:0000745,MP:0001392,MP:0001406 OMIM:618733 Neuromuscular Oculoauditory Syndrome DHX16 Dhx16 het early 26.205 HP:0007858,HP:0007814 MP:0010097 OMIM:618748 Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities CDK8 Cdk8 het early 21.795 HP:0007018 MP:0020420,MP:0001417 OMIM:618748 Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities CDK8 Cdk8 hom embryo 25.97 HP:0001629,HP:0004383,HP:0001636,HP:0001655 MP:0000266 OMIM:618776 Mitochondrial Complex I Deficiency, Nuclear Type 34 NDUFAF8 Ndufaf8 het embryo 41 HP:0001511 MP:0001697,MP:0003984 OMIM:618776 Mitochondrial Complex I Deficiency, Nuclear Type 34 NDUFAF8 Ndufaf8 hom embryo 39.14 HP:0001511 MP:0003984,MP:0001697 OMIM:618805 Triokinase And Fmn Cyclase Deficiency Syndrome TKFC Tkfc hom early 34.465 HP:0002240,HP:0001935,HP:0001644,HP:0003073,HP:0000568,HP:0001397,HP:0001733 MP:0000691,MP:0001333,MP:0000709,MP:0000274,MP:0000266,MP:0001566,MP:0000703,MP:0000689 OMIM:618806 T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant FOXN1 Foxn1 hom early 22.785 HP:0005403,HP:0031545 MP:0000703,MP:0000705 OMIM:618808 Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia ABCA2 Abca2 hom early 40.86 HP:0003141,HP:0000718 MP:0001399,MP:0001566 OMIM:618811 Mitochondrial Dna Depletion Syndrome 18 SLC25A21 Slc25a21 hom early 37.135 HP:0001508,HP:0001308,HP:0002650 MP:0004609,MP:0003961,MP:0001262,MP:0005358,MP:0002100 OMIM:618811 Mitochondrial Dna Depletion Syndrome 18 SLC25A21 Slc25a21 hom early 37.255 HP:0001508,HP:0001935 MP:0003961,MP:0002591,MP:0005562 OMIM:618821 Rhizomelic Limb Shortening With Dysmorphic Features PKDCC Pkdcc het early 14.315 HP:0012623 MP:0002135,MP:0002989 OMIM:618821 Rhizomelic Limb Shortening With Dysmorphic Features PKDCC Pkdcc hom embryo 46.48 HP:0001357,HP:0008905,HP:0001655 MP:0011495,MP:0000288,MP:0000266,MP:0003984 OMIM:618828 Nabais Sa-De Vries Syndrome, Type 1 SPOP Spop het early 27.545 HP:0100716 MP:0011940 OMIM:618829 Nabais Sa-De Vries Syndrome, Type 2 SPOP Spop het early 18.305 HP:0000821 MP:0002768 OMIM:618835 Combined Oxidative Phosphorylation Deficiency 40 QRSL1 Qrsl1 hom early 23.06 HP:0003811 MP:0011100 OMIM:618846 Diets-Jongmans Syndrome KDM3B Kdm3b het early 22.13 HP:0001385,HP:0007018 MP:0000157,MP:0001417 OMIM:618851 Combined Oxidative Phosphorylation Deficiency 43 TIMM22 Timm22 het early 23.84 HP:0003236 MP:0005633 OMIM:618856 Diabetes Mellitus, Permanent Neonatal, 2 KCNJ11 Kcnj11 hom early 45.04 HP:0100651,HP:0003074 MP:0013278,MP:0005293 OMIM:618857 Diabetes Mellitus, Permanent Neonatal, 3 ABCC8 Abcc8 hom early 46.7 HP:0100651,HP:0003074,HP:0001518,HP:0003076 MP:0003960,MP:0005293 OMIM:618863 Retinal Dystrophy With Leukodystrophy ACBD5 Acbd5 hom early 37.78 HP:0030147,HP:0002527,HP:0002515,HP:0001310 MP:0001513,MP:0001406 OMIM:618868 Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline SLC44A1 Slc44a1 hom early 28.77 HP:0002073,HP:0000648,HP:0002015 MP:0002574,MP:0011965,MP:0003731,MP:0010097,MP:0001399 OMIM:618872 Nizon-Isidor Syndrome MED12L Med12l hom early 35.445 HP:0000612 MP:0001319 OMIM:618873 Lissencephaly 10 CEP85L Cep85l hom early 39.535 HP:0002353,HP:0000473,HP:0000718,HP:0000716 MP:0020870,MP:0001486,MP:0001364,MP:0004738,MP:0001489 OMIM:618880 Glaucoma, Primary Closed-Angle COL18A1 Col18a1 hom early 51.99 HP:0011483,HP:0012796 MP:0008259,MP:0005102,MP:0002792,MP:0001303,MP:0001319,MP:0010097,MP:0001325,MP:0006241 OMIM:618906 Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures TANC2 Tanc2 hom early 46.86 HP:0002497,HP:0001363,HP:0000733,HP:0007018 MP:0020870,MP:0003795,MP:0001415,MP:0001399,MP:0001392 OMIM:618922 Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities GRM7 Grm7 hom early 26.12 HP:0000742,HP:0002015 MP:0001399,MP:0001364 OMIM:618935 Granulomatous Disease, Chronic, Autosomal Recessive, 5 CYBC1 Cybc1 hom early 21.825 HP:0001878,HP:0001744,HP:0001433,HP:0003203,HP:0001888 MP:0005505 OMIM:618939 Treacher Collins Syndrome 4 POLR1B Polr1b het early 33.84 HP:0000272,HP:0000175,HP:0000347 MP:0002100 OMIM:618944 Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections IL6R Il6ra hom early 18.35 HP:0030388 MP:0010067 OMIM:618947 Arthrogryposis Multiplex Congenita 5 TOR1A Tor1a het early 28.85 HP:0001695 MP:0010506 OMIM:618963 Immunodeficiency 69 IFNG Ifng het early 42.46 HP:0001876,HP:0001744,HP:0001974,HP:0001433,HP:0001894,HP:0001903 MP:0002608 OMIM:618974 Li-Ghorbani-Weisz-Hubshman Syndrome KAT8 Kat8 het early 26.15 HP:0001631,HP:0001629,HP:0007018 MP:0020870,MP:0002188 OMIM:618986 Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia RAC2 Rac2 hom early 17.315 HP:0001433 MP:0000598 OMIM:619011 Oocyte/Zygote/Embryo Maturation Arrest 9 TRIP13 Trip13 hom early 63.13 HP:0031516,HP:0008222 MP:0001925,MP:0001926 OMIM:619011 Oocyte/Zygote/Embryo Maturation Arrest 9 TRIP13 Trip13 hom early 83.76 HP:0031516,HP:0008222 MP:0001925,MP:0001926 OMIM:619013 Rajab Interstitial Lung Disease With Brain Calcifications 2 FARSA Farsa het early 28.53 HP:0002155,HP:0001935,HP:0001433,HP:0003073,HP:0040075,HP:0000821,HP:0001382 MP:0003020,MP:0000221,MP:0000063,MP:0002079,MP:0005634 OMIM:619027 Spastic Paraplegia 83, Autosomal Recessive HPDL Hpdl het early 29.98 HP:0002015 MP:0020870,MP:0001364 OMIM:619042 Spinal Muscular Atrophy, Infantile, James Type GARS1 Gars1 het early 19.22 HP:0003273 MP:0000157 OMIM:619051 Mitochondrial Complex Iv Deficiency, Nuclear Type 7 COX6B1 Cox6b1 het early 23.31 HP:0002092,HP:0001639,HP:0005180,HP:0001640 MP:0004952,MP:0004122 OMIM:619051 Mitochondrial Complex Iv Deficiency, Nuclear Type 7 COX6B1 Cox6b1 hom embryo 20.3 HP:0001511 MP:0001697 OMIM:619054 Mitochondrial Complex Iv Deficiency, Nuclear Type 11 COX20 Cox20 het early 31.97 HP:0001266,HP:0000473,HP:0002451 MP:0001488 OMIM:619056 Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies SETD1A Setd1a het early 23.145 HP:0001363,HP:0001382 MP:0000062 OMIM:619057 Combined Oxidative Phosphorylation Deficiency 51 PTCD3 Ptcd3 het early 27.76 HP:0000648 MP:0006243 OMIM:619059 Mitochondrial Complex Iv Deficiency, Nuclear Type 15 COX8A Cox8a hom early 37.275 HP:0003348,HP:0000580,HP:0002154 MP:0001325,MP:0001552,MP:0000198 OMIM:619071 Leukodystrophy, Hypomyelinating, 20 CNP Cnp hom early 34.625 HP:0000737 MP:0020870 OMIM:619094 Spermatogenic Failure 45 DNAH2 Dnah2 hom early 59.355 HP:0003251,HP:0032560,HP:0032558,HP:0032559,HP:0012207 MP:0001925,MP:0002059 OMIM:619112 Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13 BSCL2 Bscl2 hom early 40.62 HP:0009053,HP:0001761,HP:0002355 MP:0001406,MP:0001402,MP:0002764 OMIM:619120 Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2 COL1A2 Col1a2 hom early 20.535 HP:0002757,HP:0001382 MP:0000062 OMIM:619121 Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities SHMT2 Shmt2 het early 22.645 HP:0001349,HP:0001639,HP:0003390,HP:0030953 MP:0008259,MP:0003896,MP:0011962 OMIM:619122 Vertebral Hypersegmentation And Orofacial Anomalies GDF11 Gdf11 hom embryo 39.915 HP:0100334,HP:0000176,HP:0100333 MP:0000111 OMIM:619127 Mandibuloacral Dysplasia Progeroid Syndrome MTX2 Mtx2 het early 33.99 HP:0000938,HP:0040217,HP:0001387,HP:0001371,HP:0009771,HP:0001952 MP:0000062,MP:0000221,MP:0005560 OMIM:619130 Thrombocytopenia 7 IKZF5 Ikzf5 hom early 23.65 HP:0033535,HP:0001873,HP:0033536 MP:0012362 OMIM:619131 Osteogenesis Imperfecta, Type Xxi KDELR2 Kdelr2 het early 28.47 HP:0000939 MP:0003795 OMIM:619132 Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 CYLD Cyld hom early 35.66 HP:0002354,HP:0002145,HP:0000726 MP:0001417 OMIM:619147 Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness KARS1 Kars1 het early 22.16 HP:0001276,HP:0002510 MP:0000745 OMIM:619151 Amed Syndrome, Digenic ADH5 Adh5 hom early 30.83 HP:0004808,HP:0001873,HP:0001882,HP:0005528,HP:0007018,HP:0001903 MP:0004953,MP:0001417 OMIM:619155 Nephrotic Syndrome, Type 22 NOS1AP Nos1ap hom early 34.925 HP:0003075,HP:0003774,HP:0000100,HP:0000096,HP:0002907,HP:0012593 MP:0002942,MP:0000538 OMIM:619165 Oculocutaneous Albinism, Type Viii DCT Dct hom early 55.425 HP:0012805,HP:0005599,HP:0001010 MP:0002075 OMIM:619172 Hermansky-Pudlak Syndrome 11 BLOC1S5 Bloc1s5 het early 16.885 HP:0033535 MP:0000220 OMIM:619172 Hermansky-Pudlak Syndrome 11 BLOC1S5 Bloc1s5 hom early 62.665 HP:0007750,HP:0001022,HP:0001107,HP:0000995,HP:0012805,HP:0002286 MP:0005102,MP:0002792,MP:0001322,MP:0002075,MP:0010097,MP:0001325,MP:0011239 OMIM:619174 Deafness, Autosomal Recessive 117 CLRN2 Clrn2 hom early 28.995 HP:0000407 MP:0004738 OMIM:619177 Spermatogenic Failure 51 CFAP91 Cfap91 hom early 49.355 HP:0000798,HP:0032560,HP:0033393,HP:0025437,HP:0032558,HP:0033525,HP:0032561,HP:0032559,HP:0012207 MP:0001147,MP:0001146,MP:0001925 OMIM:619179 Microcephaly 26, Primary, Autosomal Dominant LMNB1 Lmnb1 het early 30.005 HP:0001508 MP:0001262 OMIM:619185 Joubert Syndrome 37 TOGARAM1 Togaram1 hom embryo 48.225 HP:0000568,HP:0100259 MP:0000562,MP:0001293,MP:0005650,MP:0001297 OMIM:619189 Li-Campeau Syndrome UBR7 Ubr7 hom early 32.97 HP:0003065 MP:0002764 OMIM:619196 Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy KARS1 Kars1 het early 40.815 HP:0001251,HP:0007256,HP:0001332 MP:0000745 OMIM:619202 Spermatogenic Failure 52 C14orf39 4930447C04Rik hom early 69.115 HP:0003251,HP:0000027 MP:0001925,MP:0001926 OMIM:619203 Premature Ovarian Failure 18 C14orf39 4930447C04Rik hom early 36.73 HP:0008209,HP:0000858,HP:0000869,HP:0008724 MP:0001925,MP:0001926 OMIM:619224 Mitochondrial Complex Ii Deficiency, Nuclear Type 4 SDHB Sdhb het early 31.145 HP:0002527,HP:0001251,HP:0012402 MP:0002135,MP:0001402 OMIM:619228 Developmental Delay With Dysmorphic Facies And Dental Anomalies SATB1 Satb1 het early 44.88 HP:0002353 MP:0004738 OMIM:619229 Den Hoed-De Boer-Voisin Syndrome SATB1 Satb1 het early 31.925 HP:0000736,HP:0011197,HP:0000358,HP:0010841,HP:0002521,HP:0002353,HP:0000713,HP:0002015,HP:0000733,HP:0012171 MP:0001399,MP:0004738,MP:0001415 OMIM:619232 Bile Acid Conjugation Defect 1 BAAT Baat hom early 28 HP:0002908,HP:0002240 MP:0002968,MP:0000186,MP:0000274,MP:0005179,MP:0001552 OMIM:619234 Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay POLR3GL Polr3gl hom embryo 12.15 HP:0001537 MP:0001697 OMIM:619243 Global Developmental Delay With Speech And Behavioral Abnormalities TNRC6B Tnrc6b hom early 24.545 HP:0001382,HP:0007018 MP:0020870,MP:0000063 OMIM:619245 Premature Ovarian Failure 19 HSF2BP Hsf2bp hom early 26.245 HP:0000869,HP:0008209,HP:0000858,HP:0008222 MP:0001147 OMIM:619256 Hypercholanemia, Familial, 2 SLC10A1 Slc10a1 hom early 32.065 HP:0006579 MP:0005084,MP:0009342,MP:0000598 OMIM:619259 Neurodegeneration With Ataxia And Late-Onset Optic Atrophy SDHA Sdha het early 27.965 HP:0000716 MP:0020870 OMIM:619272 Mitochondrial Complex I Deficiency, Nuclear Type 37 NDUFA8 Ndufa8 het early 44.06 HP:0002092,HP:0001662 MP:0010506,MP:0003928 OMIM:619273 Cimdag Syndrome VPS4A Vps4a het early 44.965 HP:0002240,HP:0001251,HP:0001414,HP:0002072,HP:0000519,HP:0001332,HP:0001081,HP:0001257 MP:0001303,MP:0000691,MP:0001304,MP:0004952,MP:0000745 OMIM:619273 Cimdag Syndrome VPS4A Vps4a het embryo 23.525 HP:0001332 MP:0001491 OMIM:619273 Cimdag Syndrome VPS4A Vps4a hom embryo 23.32 HP:0001332 MP:0001491 OMIM:619278 Microcephaly, Epilepsy, And Diabetes Syndrome 2 YIPF5 Yipf5 het early 25.555 HP:0040217 MP:0002875 OMIM:619279 Parkinsonism With Polyneuropathy UQCRC1 Uqcrc1 het early 36.17 HP:0000716 MP:0001417 OMIM:619290 Mahvash Disease GCGR Gcgr hom early 40.135 HP:0030688,HP:0005978,HP:4000061 MP:0005292,MP:0002727,MP:0013278 OMIM:619293 Blepharophimosis-Impaired Intellectual Development Syndrome SMARCA2 Smarca2 hom early 37.995 HP:0000733,HP:0007018,HP:0100025 MP:0001399 OMIM:619297 Kinsship Syndrome AFF3 Aff3 het early 26.425 HP:0000960,HP:0002650,HP:0000470 MP:0004599 OMIM:619297 Kinsship Syndrome AFF3 Aff3 hom early 33.4 HP:0000938,HP:0000303,HP:0000960,HP:0000219,HP:0000470,HP:0000347,HP:0000179,HP:0002827,HP:0000212,HP:0002714,HP:0000154,HP:0000322,HP:0000687,HP:0002650,HP:0010296,HP:0000319,HP:0003083 MP:0004599,MP:0003036,MP:0004613,MP:0005358,MP:0002100 OMIM:619301 Pontocerebellar Hypoplasia, Type 14 PPIL1 Ppil1 het early 32.25 HP:0410252,HP:0001873,HP:0001332 MP:0000692,MP:0001488 OMIM:619313 Immunodeficiency 80 With Or Without Congenital Cardiomyopathy MCM10 Mcm10 het early 29.58 HP:0003281,HP:0002155 MP:0002942 OMIM:619319 Lymphatic Malformation 9 CELSR1 Celsr1 het early 30.46 HP:0033986 MP:0000691,MP:0000689 OMIM:619323 Neurodevelopmental Disorder With Seizures And Gingival Overgrowth TBC1D2B Tbc1d2b hom early 30.145 HP:0001350,HP:0002066 MP:0000745 OMIM:619326 Bdv Syndrome CPE Cpe hom early 36.725 HP:0000044,HP:0000028,HP:0000842,HP:0000786,HP:0005978 MP:0005559,MP:0001925,MP:0013279,MP:0005293 OMIM:619328 Leukodystrophy, Hypomyelinating, 22 CLDN11 Cldn11 hom early 37.62 HP:0002540 MP:0001406 OMIM:619339 Bartsocas-Papas Syndrome 2 CHUK Chuk het early 51.595 HP:0005650,HP:0000191,HP:0000347,HP:0200055,HP:0002744,HP:0005807,HP:0000568 MP:0001297,MP:0013129,MP:0002100,MP:0002110 OMIM:619362 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 LMOD1 Lmod1 hom early 22.62 HP:0003811 MP:0011110 OMIM:619369 Lymphatic Malformation 10 ANGPT2 Angpt2 hom early 28.505 HP:0000034 MP:0000703,MP:0000706,MP:0001157 OMIM:619379 Spermatogenic Failure 54 CATIP Catip hom early 69.065 HP:0003251,HP:0030974,HP:0000798,HP:0032560,HP:0012207,HP:0032562,HP:0032559,HP:0033524 MP:0001925 OMIM:619380 Spermatogenic Failure 55 SPAG17 Spag17 hom early 76.405 HP:0003251,HP:0012207 MP:0001925 OMIM:619381 Immunodeficiency 82 With Systemic Inflammation SYK Syk het early 13.42 HP:0001824 MP:0003961 OMIM:619402 Cardiomyopathy, Familial Hypertrophic, 28 FHOD3 Fhod3 hom embryo 37 HP:0031295,HP:4000004,HP:0005157,HP:0001670,HP:0031992 MP:0000266 OMIM:619407 Whim Syndrome 2 CXCR2 Cxcr2 hom early 64.695 HP:0410252 MP:0010838,MP:0013154,MP:0013022,MP:0010835,MP:0000322,MP:0005018,MP:0005562,MP:0013418,MP:0005017,MP:0008209,MP:0008079,MP:0013157,MP:0010850,MP:0013025,MP:0013654,MP:0011816,MP:0005011,MP:0013772,MP:0000220,MP:0013523,MP:0013427,MP:0005505,MP:0008215,MP:0008211,MP:0010067,MP:0008346,MP:0000219,MP:0000218 OMIM:619422 Spinocerebellar Ataxia, Autosomal Recessive 31 ATG7 Atg7 het early 34.86 HP:0000488,HP:0000648 MP:0001325 OMIM:619424 Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy MYL2 Myl2 het early 34.33 HP:0003236 MP:0002966 OMIM:619426 White-Kernohan Syndrome DDB1 Ddb1 het early 34.905 HP:0000072,HP:0000085,HP:0000369,HP:0007018,HP:0000400,HP:0000126,HP:0020206 MP:0001399,MP:0004738,MP:0011874,MP:0000538 OMIM:619437 Immunodeficiency 84 IKZF3 Ikzf3 hom early 55.53 HP:0009789,HP:0001744,HP:0010976 MP:0000221,MP:0003179,MP:0012361,MP:0000219,MP:0005016 OMIM:619451 Cutis Laxa, Autosomal Recessive, Type Iie LTBP1 Ltbp1 hom early 46.48 HP:0001388,HP:0001159,HP:0000023,HP:0002938,HP:0003300,HP:0001363,HP:0002553,HP:0000179,HP:0002827,HP:0002970,HP:0000431,HP:0006191,HP:0000527,HP:0000218,HP:0002650,HP:0000343,HP:0004209,HP:0001156 MP:0000552,MP:0004609,MP:0000443,MP:0005108,MP:0002075,MP:0010025,MP:0005358,MP:0010124,MP:0002100 OMIM:619464 Sick Sinus Syndrome 4 GNB2 Gnb2 hom early 54.125 HP:0012723,HP:0033992,HP:0031547,HP:0004757,HP:0001678,HP:0001688,HP:0031593,HP:0001279,HP:0025074 MP:0010571,MP:0010507,MP:0002626 OMIM:619467 Usmani-Riazuddin Syndrome, Autosomal Dominant AP1G1 Ap1g1 het early 49.35 HP:0100716,HP:0000752,HP:0000722,HP:0000718 MP:0001399,MP:0002574 OMIM:619470 Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities TMEM222 Tmem222 het early 30.83 HP:0001337,HP:0000648 MP:0006243 OMIM:619471 Bardet-Biedl Syndrome 20 IFT172 Ift172 het early 36.765 HP:0001085,HP:0100259,HP:0001162,HP:0004691,HP:0012841,HP:0001841,HP:0000510 MP:0010097,MP:0002110 OMIM:619471 Bardet-Biedl Syndrome 20 IFT172 Ift172 hom embryo 20.845 HP:0001631 MP:0000288,MP:0000266 OMIM:619472 Viss Syndrome IPO8 Ipo8 het early 11.875 HP:0032061 MP:0005561 OMIM:619475 Developmental Delay, Impaired Speech, And Behavioral Abnormalities SPTBN1 Sptbn1 het early 28.855 HP:0025502,HP:0001513,HP:0002904,HP:0004325,HP:0001508 MP:0001262,MP:0005419 OMIM:619481 Bile Acid Malabsorption, Primary, 2 SLC51B Slc51b hom early 22.925 HP:0006579,HP:0001405,HP:0025321,HP:0034048 MP:0002968,MP:0000691,MP:0000689 OMIM:619482 Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction MYO1H Myo1h het early 16.87 HP:0000020 MP:0011436 OMIM:619493 Congenital Disorder Of Glycosylation, Type 2V EDEM3 Edem3 het early 21.18 HP:0002162 MP:0002075 OMIM:619503 Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies GNB2 Gnb2 hom early 32.56 HP:0001878,HP:0002136,HP:0100710,HP:0001409,HP:0002917,HP:0003763,HP:0001433,HP:0012172,HP:0002140,HP:0000744,HP:0002527,HP:0002015,HP:0030051,HP:0002901 MP:0020870,MP:0010571,MP:0002574,MP:0005561,MP:0005567,MP:0010507,MP:0005419,MP:0002626,MP:0001399,MP:0000218 OMIM:619515 Spermatogenic Failure 56 DNAH10 Dnah10 hom early 73.1 HP:0003251,HP:0000798,HP:0032560,HP:0033393,HP:0012207,HP:0032558,HP:0032559,HP:0034011 MP:0001925 OMIM:619518 Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome GGPS1 Ggps1 het early 18.815 HP:0003236 MP:0005178,MP:0001556 OMIM:619522 Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities ZMYM2 Zmym2 het early 34.725 HP:0002267 MP:0001488 OMIM:619522 Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities ZMYM2 Zmym2 hom embryo 26.705 HP:0001510,HP:0001511,HP:0004322 MP:0003984 OMIM:619522 Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities ZMYM2 Zmym2 het early 34.745 HP:0002267 MP:0001488 OMIM:619522 Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities ZMYM2 Zmym2 hom embryo 19.3 HP:0001631,HP:0001629 MP:0000288,MP:0000266 OMIM:619528 Spermatogenic Failure 57 PNLDC1 Pnldc1 hom early 76.595 HP:0003251,HP:0011961,HP:0031038,HP:0008734 MP:0001925 OMIM:619531 Cone-Rod Dystrophy 22 TLCD3B Tlcd3b hom early 57.18 HP:0007722,HP:0011504,HP:0030631,HP:0030825,HP:0025159,HP:0030629,HP:0007843 MP:0003731,MP:0011965 OMIM:619534 Biliary, Renal, Neurologic, And Skeletal Syndrome IFT56 Ift56 hom early 18.215 HP:0003811 MP:0011100 OMIM:619543 Boudin-Mortier Syndrome NPR3 Npr3 het early 23.665 HP:0001634 MP:0000274,MP:0000266 OMIM:619548 Usmani-Riazuddin Syndrome, Autosomal Recessive AP1G1 Ap1g1 het early 35.905 HP:0030953,HP:0000718 MP:0001399,MP:0001304,MP:0002574 OMIM:619565 Dystonia 31 AOPEP Aopep hom early 39.525 HP:0002015,HP:0000716 MP:0020421 OMIM:619575 Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities TAOK1 Taok1 het early 30.865 HP:0001134 MP:0001303 OMIM:619646 Spermatogenic Failure 60 TERB1 Terb1 het early 32.02 HP:0011961,HP:0031038 MP:0001126 OMIM:619652 Immunodeficiency 92 REL Rel hom early 28.655 HP:0001974,HP:0030388,HP:0010976,HP:0100827,HP:0001894 MP:0000223 OMIM:619653 Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus TNR Tnr hom late 29.27 HP:0001266,HP:0002540 MP:0003313 OMIM:619658 Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss USP53 Usp53 hom early 37.105 HP:0002901,HP:0000365,HP:0410053 MP:0002968,MP:0005568,MP:0005178,MP:0004738,MP:0005344 OMIM:619665 Ovarian Dysgenesis 9 SPIDR Spidr hom early 34.15 HP:0008209,HP:0000786,HP:0008724 MP:0001925,MP:0001926 OMIM:619672 Spermatogenic Failure 61 STAG3 Stag3 hom early 70.22 HP:0003251,HP:0011961 MP:0001147,MP:0001925,MP:0001926 OMIM:619681 Dystonia, Early-Onset, And/Or Spastic Paraplegia ATP5MC3 Atp5mc3 hom early 38.125 HP:0002355 MP:0001402 OMIM:619688 Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy RNF220 Rnf220 het early 28.035 HP:0001251 MP:0002574 OMIM:619690 Brunet-Wagner Neurodevelopmental Syndrome RBL2 Rbl2 het early 29.255 HP:0000648 MP:0001325 OMIM:619696 Spermatogenic Failure 64 FBXO43 Fbxo43 hom early 59.505 HP:0003251,HP:0000798,HP:0012865,HP:0034011 MP:0001925,MP:0001926 OMIM:619697 Oocyte/Zygote/Embryo Maturation Arrest 12 FBXO43 Fbxo43 hom early 68.22 HP:0008222 MP:0001925,MP:0001926 OMIM:619698 Mucopolysaccharidosis, Type X ARSK Arsk het early 22.39 HP:0100832 MP:0001325 OMIM:619698 Mucopolysaccharidosis, Type X ARSK Arsk hom early 22.39 HP:0100832 MP:0001325 OMIM:619699 Ferguson-Bonni Neurodevelopmental Syndrome ANAPC7 Anapc7 hom early 29.755 HP:0008209,HP:0000776 MP:0001926,MP:0010024 OMIM:619707 Agammaglobulinemia 10, Autosomal Dominant SPI1 Spi1 het early 27.36 HP:0410255,HP:0030252 MP:0002590,MP:0002875 OMIM:619708 Gastrointestinal Defects And Immunodeficiency Syndrome 2 PI4KA Pi4ka het early 28.175 HP:0002599,HP:0001332,HP:0001888,HP:0002080 MP:0001513,MP:0003131,MP:0000220,MP:0002608 OMIM:619736 Teebi Hypertelorism Syndrome 2 CDH11 Cdh11 hom early 41.55 HP:0003196,HP:0000047,HP:0007018 MP:0020870,MP:0000443,MP:0001399,MP:0001147,MP:0001364,MP:0003068,MP:0002135,MP:0001146 OMIM:619743 Combined Oxidative Phosphorylation Deficiency 55 POLRMT Polrmt het early 28.795 HP:0002119 MP:0001891 OMIM:619745 Noonan Syndrome 14 SPRED2 Spred2 hom early 24.34 HP:0002705,HP:0001634,HP:0001642,HP:0001639,HP:0001888 MP:0000691,MP:0000274,MP:0000266,MP:0002591,MP:0010067,MP:0000689,MP:0003883 OMIM:619750 Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies IL6ST Il6st het early 34.325 HP:0001935,HP:0001433,HP:0011227,HP:0033332 MP:0005344,MP:0005641 OMIM:619751 Stuve-Wiedemann Syndrome 2 IL6ST Il6st het early 24.61 HP:0001873 MP:0005641 OMIM:619751 Stuve-Wiedemann Syndrome 2 IL6ST Il6st hom early 28.915 HP:0003811,HP:0003826 MP:0011100 OMIM:619751 Stuve-Wiedemann Syndrome 2 IL6ST Il6st hom embryo 26.925 HP:0003811,HP:0003826 MP:0013293 OMIM:619752 Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections IL6ST Il6st het early 19.365 HP:0001888,HP:0040218,HP:0001875 MP:0005641 OMIM:619755 Hypogonadotropic Hypogonadism 27 Without Anosmia NHLH2 Nhlh2 hom early 15.65 HP:0001513 MP:0003961 OMIM:619755 Hypogonadotropic Hypogonadism 27 Without Anosmia NHLH2 Nhlh2 hom early 17.75 HP:0001513 MP:0003961 OMIM:619762 Kury-Isidor Syndrome BAP1 Bap1 het early 16.875 HP:0001596,HP:0000998 MP:0002098 OMIM:619762 Kury-Isidor Syndrome BAP1 Bap1 het early 12.595 HP:0000369 MP:0004738 OMIM:619767 Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 RPA1 Rpa1 het early 30.42 HP:0001876,HP:0001888,HP:0031545 MP:0000208,MP:0002590,MP:0002875,MP:0002874 OMIM:619777 Developmental And Epileptic Encephalopathy 100 FBXO28 Fbxo28 het early 22.64 HP:0000733,HP:0002015 MP:0020870 OMIM:619790 Oculopharyngodistal Myopathy 4 RILPL1 Rilpl1 hom early 32.03 HP:0001337,HP:0002174 MP:0001488 OMIM:619793 Restrictive Dermopathy 2 LMNA Lmna het early 23.77 HP:0000308,HP:0006391,HP:0000894 MP:0002764 OMIM:619802 Immunodeficiency 97 With Autoinflammation PIK3CG Pik3cg hom early 20.09 HP:0003281,HP:0002155 MP:0005628 OMIM:619841 Chilton-Okur-Chung Neurodevelopmental Syndrome CDC42BPB Cdc42bpb het embryo 16.74 HP:0001511 MP:0001697 OMIM:619841 Chilton-Okur-Chung Neurodevelopmental Syndrome CDC42BPB Cdc42bpb hom embryo 16.735 HP:0001511 MP:0001697 OMIM:619851 Leukodystrophy, Hypomyelinating, 24 ATP11A Atp11a het early 28.355 HP:0001371,HP:0010976 MP:0000062,MP:0000218 OMIM:619859 Phosphoribosylaminoimidazole Carboxylase Deficiency PAICS Paics het embryo 18.18 HP:0004322 MP:0003984 OMIM:619859 Phosphoribosylaminoimidazole Carboxylase Deficiency PAICS Paics hom early 22.385 HP:0003811 MP:0011100 OMIM:619859 Phosphoribosylaminoimidazole Carboxylase Deficiency PAICS Paics hom embryo 21.625 HP:0003811 MP:0013294 OMIM:619884 Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay COPB2 Copb2 het early 34.79 HP:0002540,HP:0002136 MP:0001402 OMIM:619908 Neurodevelopmental Disorder With Language Delay And Seizures TIAM1 Tiam1 hom early 25.375 HP:0007018 MP:0001417 OMIM:619910 Intellectual Developmental Disorder, Autosomal Dominant 66 ATP2B1 Atp2b1 het early 18.12 HP:0008070,HP:0000369 MP:0002098,MP:0004738,MP:0001284 OMIM:619927 Intellectual Developmental Disorder, Autosomal Dominant 67 GRIA1 Gria1 hom early 51.57 HP:0100034,HP:0000752,HP:0000722,HP:0007018 MP:0001399 OMIM:619927 Intellectual Developmental Disorder, Autosomal Dominant 67 GRIA1 Gria1 hom late 42.13 HP:0100034,HP:0000752,HP:0000722,HP:0007018 MP:0009456,MP:0020420,MP:0020422,MP:0009454,MP:0001417 OMIM:619927 Intellectual Developmental Disorder, Autosomal Dominant 67 GRIA1 Gria1 hom middle 28.67 HP:0007018 MP:0001417 OMIM:619927 Intellectual Developmental Disorder, Autosomal Dominant 67 GRIA1 Gria1 hom early 51.57 HP:0100034,HP:0000752,HP:0000722,HP:0007018 MP:0001399 OMIM:619931 Intellectual Developmental Disorder, Autosomal Recessive 76 GRIA1 Gria1 hom early 30.405 HP:0100716 MP:0001399 OMIM:619931 Intellectual Developmental Disorder, Autosomal Recessive 76 GRIA1 Gria1 hom late 33.275 HP:0100716 MP:0020420,MP:0020422 OMIM:619931 Intellectual Developmental Disorder, Autosomal Recessive 76 GRIA1 Gria1 hom early 30.405 HP:0100716 MP:0001399 OMIM:619934 Intellectual Developmental Disorder, Autosomal Dominant 68 KMT2B Kmt2b het early 26.48 HP:0008070 MP:0002075 OMIM:619967 Congenital Myopathy 11 HACD1 Hacd1 het embryo 32.685 HP:0001561 MP:0001785 OMIM:619967 Congenital Myopathy 11 HACD1 Hacd1 hom embryo 31.7 HP:0001561 MP:0001785 OMIM:619971 Neurodevelopmental Disorder With Epilepsy And Brain Atrophy ATP6V0A1 Atp6v0a1 het early 31.25 HP:0000939 MP:0010123 OMIM:619991 Liver Disease, Severe Congenital FOCAD Focad het late 26.03 HP:0000736,HP:0000737,HP:0000825 MP:0005292,MP:0001415 OMIM:619991 Liver Disease, Severe Congenital FOCAD Focad hom embryo 16.15 HP:0005231,HP:0001537,HP:0002243 MP:0004258,MP:0000111 OMIM:620010 Cholestasis, Progressive Familial Intrahepatic, 12 VPS33B Vps33b het early 23.12 HP:0002908,HP:0012202,HP:0002904 MP:0001556 OMIM:620021 Intellectual Developmental Disorder With Autism And Dysmorphic Facies PDZD8 Pdzd8 hom early 44.785 HP:0007018,HP:0100023,HP:0001845,HP:0000722 MP:0001399,MP:0002764 OMIM:620022 Stickler Syndrome, Type Vi COL9A3 Col9a3 hom early 20.345 HP:0000407 MP:0004738 OMIM:620028 Developmental And Epileptic Encephalopathy 106 UFSP2 Ufsp2 het embryo 40.495 HP:0001321,HP:0000252 MP:0000433 OMIM:620029 Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures CACNA1C Cacna1c het early 21.225 HP:0007018,HP:0002015 MP:0020421 OMIM:620033 Developmental And Epileptic Encephalopathy 107 NAPB Napb het early 39.325 HP:0000733 MP:0020870,MP:0001364,MP:0001399 OMIM:620047 Microcephaly 29, Primary, Autosomal Recessive PDCD6IP Pdcd6ip hom late 25.055 HP:0005565,HP:0004719 MP:0002135,MP:0008528,MP:0002989 OMIM:620047 Microcephaly 29, Primary, Autosomal Recessive PDCD6IP Pdcd6ip hom late 22.58 HP:0000752 MP:0011940 OMIM:620073 Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities HNRNPR Hnrnpr hom early 23.96 HP:0007018 MP:0001417 OMIM:620075 Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly TMEM147 Tmem147 het early 18.1 HP:0008070,HP:0002212,HP:0000664,HP:0045075 MP:0000579 OMIM:620076 Bent Bone Dysplasia Syndrome 2 LAMA5 Lama5 het early 18.935 HP:0001631,HP:0002240 MP:0000274 OMIM:620084 Spermatogenic Failure 76 CCDC34 Ccdc34 hom early 70.93 HP:0003251,HP:0000798,HP:0033393,HP:0032558,HP:0032559,HP:0012207 MP:0001925 OMIM:620094 Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia FRMD5 Frmd5 hom early 28.13 HP:0001332 MP:0001488 OMIM:620114 Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures CACNA1I Cacna1i hom early 25.615 HP:0002540 MP:0001402 OMIM:620121 Iron Overload, Susceptibility To BMP6 Bmp6 hom early 48.975 HP:0031877,HP:0003281,HP:0012463,HP:0012465 MP:0008810,MP:0001944,MP:0005343,MP:0002941 OMIM:620145 Developmental And Epileptic Encephalopathy 109 FZR1 Fzr1 het early 33.59 HP:0001712 MP:0000274,MP:0000266 OMIM:620145 Developmental And Epileptic Encephalopathy 109 FZR1 Fzr1 hom embryo 22.095 HP:0001511 MP:0001697 OMIM:620149 Developmental And Epileptic Encephalopathy 110 CACNA2D1 Cacna2d1 hom early 26.36 HP:0003763 MP:0020420,MP:0020421 OMIM:620155 Rabin-Pappas Syndrome SETD2 Setd2 hom early 15.42 HP:0000347,HP:0007763 MP:0010392,MP:0002764 OMIM:620157 Intellectual Developmental Disorder, Autosomal Dominant 70 SETD2 Setd2 hom early 16.585 HP:0000347,HP:0007763 MP:0010392,MP:0002764 OMIM:620166 Muscular Dystrophy, Congenital, With Or Without Seizures GOSR2 Gosr2 het early 41 HP:0002505,HP:0001251,HP:0003236 MP:0008806,MP:0001406 OMIM:620167 Combined Oxidative Phosphorylation Deficiency 57 CRLS1 Crls1 hom early 22.94 HP:0003811 MP:0011100 OMIM:620185 Atelis Syndrome 2 SMC5 Smc5 het early 45.575 HP:0001873,HP:0000842,HP:0001903,HP:0001310 MP:0003179,MP:0005011,MP:0002875,MP:0000745,MP:0000219,MP:0000208,MP:0005016,MP:0005560 OMIM:620186 Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome KMT2D Kmt2d het early 19.52 HP:0005359,HP:0008282 MP:0002968,MP:0003020,MP:0000221,MP:0005561,MP:0005634,MP:0002875,MP:0008806 OMIM:620193 Lacrimoauriculodentodigital Syndrome 3 FGF10 Fgf10 het early 32.04 HP:0001092,HP:0000286,HP:0000561,HP:0007925,HP:0006297 MP:0005287,MP:0010024 OMIM:620210 Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia NAE1 Nae1 het early 26.84 HP:0001744,HP:0001882,HP:0001888 MP:0002590,MP:0002875 OMIM:620221 Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia UCHL1 Uchl1 het early 34.765 HP:0002015,HP:0002080 MP:0001399,MP:0001488 OMIM:620222 Spermatogenic Failure 80 DRC1 Drc1 hom early 74.64 HP:0003251,HP:0000798,HP:0032560,HP:0032558,HP:0032559,HP:0034011 MP:0001925 OMIM:620238 Deafness, Autosomal Recessive 120 MINAR2 Minar2 hom early 28.04 HP:0000407 MP:0004738 OMIM:620242 Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities ATP9A Atp9a hom early 50 HP:0000736,HP:0000752,HP:0000718,HP:0033838,HP:0000716,HP:0007018,HP:0000733 MP:0001399,MP:0001415 OMIM:620270 Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities UBE3C Ube3c hom early 36.315 HP:0010665,HP:0001639,HP:0001251 MP:0002834,MP:0002757,MP:0001402,MP:0002764,MP:0001406 OMIM:620300 Mitochondrial Trifunctional Protein Deficiency 2 HADHB Hadhb het early 36.405 HP:0001943 MP:0013278 OMIM:620300 Mitochondrial Trifunctional Protein Deficiency 2 HADHB Hadhb hom early 22.445 HP:0003811 MP:0011110 OMIM:620317 Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities WARS1 Wars1 het late 46.275 HP:0002540,HP:0002317,HP:0001251 MP:0001406,MP:0001523 OMIM:620320 Hematuria, Benign Familial, 2 COL4A3 Col4a3 hom early 28.755 HP:0002907,HP:0000093,HP:0033282 MP:0003917 OMIM:620330 Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities RFX7 Rfx7 het early 30.38 HP:0012170,HP:0002136,HP:0000609,HP:0000718,HP:0012167,HP:0002591,HP:0100716,HP:4000070,HP:0007018,HP:0000712,HP:0000733 MP:0020870,MP:0001325,MP:0001402 OMIM:620343 Basal Cell Nevus Syndrome 2 SUFU Sufu hom embryo 35.5 HP:0000238 MP:0003864,MP:0003232,MP:0006108,MP:0003720 OMIM:620351 Congenital Myopathy 22A, Classic SCN4A Scn4a het early 35.27 HP:0008180 MP:0002966,MP:0008806 OMIM:620351 Congenital Myopathy 22A, Classic SCN4A Scn4a hom early 22.5 HP:0003811 MP:0011100 OMIM:620352 Developmental And Epileptic Encephalopathy 31B DNM1 Dnm1 het embryo 36.29 HP:0005484,HP:0001274,HP:0033725,HP:0034295 MP:0000433 OMIM:620352 Developmental And Epileptic Encephalopathy 31B DNM1 Dnm1 hom embryo 36.29 HP:0005484,HP:0001274,HP:0033725,HP:0034295 MP:0000433 OMIM:620357 Diarrhea 13 ACSL5 Acsl5 hom early 55.8 HP:0002910,HP:0001397,HP:0001988,HP:0003073 MP:0000186,MP:0004952,MP:0003402,MP:0005179,MP:0005567,MP:0005344,MP:0005560 OMIM:620358 Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A ATP5F1A Atp5f1a het early 32.345 HP:0001508,HP:0001903 MP:0005505,MP:0001262,MP:0005562 OMIM:620379 Spastic Paraplegia 89, Autosomal Recessive AMFR Amfr het early 30.015 HP:0001251 MP:0001402 ORPHA:100050 Hereditary Angioedema Type 1 SERPING1 Serping1 hom early 25.31 HP:0025349 MP:0001304 ORPHA:100069 Semantic Dementia MAPT Mapt hom early 42.43 HP:0000726 MP:0001417 ORPHA:100070 Progressive Non-Fluent Aphasia MAPT Mapt hom early 33.15 HP:0000711,HP:0002145,HP:0000716,HP:0001268,HP:0002354 MP:0011941,MP:0001417 ORPHA:100075 Neuroendocrine Tumor Of Stomach DAXX Daxx het early 21.51 HP:0002240,HP:0031566 MP:0000274 ORPHA:100924 Porphyria Due To Ala Dehydratase Deficiency ALAD Alad het early 16.105 HP:0030272,HP:0012217,HP:0040322,HP:0005547 MP:0011874,MP:0000709 ORPHA:100924 Porphyria Due To Ala Dehydratase Deficiency ALAD Alad het late 31.47 HP:0030272,HP:0005547 MP:0010068 ORPHA:100991 Autosomal Dominant Spastic Paraplegia Type 10 KIF5A Kif5a het early 21.98 HP:0000510,HP:0000365 MP:0004738,MP:0006243 ORPHA:100996 Autosomal Recessive Spastic Paraplegia Type 15 ZFYVE26 Zfyve26 hom early 40.56 HP:0002145,HP:0007024,HP:0000726,HP:0001288,HP:0100543 MP:0002804,MP:0002574 ORPHA:100998 Autosomal Dominant Spastic Paraplegia Type 17 BSCL2 Bscl2 hom early 33.135 HP:0001763,HP:0001436,HP:0001171,HP:0002064 MP:0001406,MP:0001402,MP:0002764 ORPHA:101 Dentatorubral Pallidoluysian Atrophy ATN1 Atn1 hom early 41.06 HP:0001251,HP:0001138,HP:0010867,HP:0001310,HP:0002066,HP:0001266,HP:0000643,HP:0002070,HP:0000726,HP:0002073,HP:0002075,HP:0100543,HP:0002078,HP:0012048,HP:0002354,HP:0002345 MP:0001513,MP:0001289,MP:0001406,MP:0001417 ORPHA:101000 Autosomal Recessive Spastic Paraplegia Type 20 SPART Spart hom early 28.215 HP:0000712,HP:0100543 MP:0001417 ORPHA:101016 Romano-Ward Syndrome AKAP9 Akap9 het early 22.95 HP:0002900 MP:0002968,MP:0000186,MP:0005179,MP:0008806,MP:0005419,MP:0000183 ORPHA:101016 Romano-Ward Syndrome KCNE2 Kcne2 hom early 34.64 HP:0002900 MP:0004151,MP:0005567,MP:0010092,MP:0005419 ORPHA:101016 Romano-Ward Syndrome NOS1AP Nos1ap hom early 20.065 HP:0002900,HP:0012332 MP:0002942,MP:0008259 ORPHA:101016 Romano-Ward Syndrome CAV3 Cav3 hom early 15.865 HP:0002900 MP:0000182 ORPHA:101016 Romano-Ward Syndrome KCNE1 Kcne1 hom early 22.83 HP:0002900,HP:0012332,HP:0000365 MP:0002968,MP:0005565,MP:0002941,MP:0004738 ORPHA:101111 Spinocerebellar Ataxia Type 25 PNPT1 Pnpt1 het early 38.915 HP:0002073,HP:0002066 MP:0001406 ORPHA:101150 Autosomal Recessive Dopa-Responsive Dystonia TH Th het early 34.385 HP:0001251,HP:0002066 MP:0001406 ORPHA:1018 X-Linked Alport Syndrome-Diffuse Leiomyomatosis COL4A5 Col4a5 hem early 36.76 HP:0000518,HP:0000093,HP:0000491,HP:0012622,HP:0003774,HP:0000790,HP:0011501,HP:0000112 MP:0002135,MP:0001289,MP:0001303 ORPHA:1018 X-Linked Alport Syndrome-Diffuse Leiomyomatosis COL4A5 Col4a5 hom early 13.055 HP:0000093,HP:0012622,HP:0003774,HP:0000790,HP:0000112 MP:0002135 ORPHA:1020 Early-Onset Autosomal Dominant Alzheimer Disease SORL1 Sorl1 hom early 25.98 HP:0001251 MP:0001406 ORPHA:1020 Early-Onset Autosomal Dominant Alzheimer Disease TOMM40 Tomm40 het early 35.505 HP:0000713,HP:0000734 MP:0001399 ORPHA:1031 Enamel-Renal Syndrome FAM20A Fam20a hom early 46.885 HP:0000684,HP:0000083,HP:0011073,HP:0000682,HP:0012365,HP:0004727,HP:0000212,HP:0000121,HP:0000805,HP:0003127,HP:0006286,HP:0000112,HP:0000705 MP:0002135,MP:0002100,MP:0010025 ORPHA:1040 Metaphyseal Anadysplasia MMP9 Mmp9 hom early 54.395 HP:0006487,HP:0040071,HP:0002814,HP:0006501,HP:0005930,HP:0000944,HP:0004039 MP:0002764 ORPHA:1040 Metaphyseal Anadysplasia MMP13 Mmp13 hom early 54.395 HP:0006487,HP:0040071,HP:0002814,HP:0006501,HP:0005930,HP:0000944,HP:0004039 MP:0002764 ORPHA:1052 Mosaic Variegated Aneuploidy Syndrome TRIP13 Trip13 hom early 31.335 HP:0000518,HP:0007957,HP:0002797,HP:0006721,HP:0001000,HP:0002817,HP:0004209,HP:0007565 MP:0003795,MP:0005102,MP:0005561,MP:0002875,MP:0002110,MP:0002874,MP:0010124,MP:0000208 ORPHA:1052 Mosaic Variegated Aneuploidy Syndrome TRIP13 Trip13 hom late 37.865 HP:0001659,HP:0000518,HP:0007957,HP:0002797,HP:0001000,HP:0006721,HP:0007565 MP:0003795,MP:0001303,MP:0000063,MP:0010506,MP:0002075,MP:0010124,MP:0000218 ORPHA:1052 Mosaic Variegated Aneuploidy Syndrome TRIP13 Trip13 hom early 25.99 HP:0002797 MP:0000063,MP:0010124 ORPHA:1065 Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome PAX6 Pax6 het early 30.075 HP:0000526 MP:0001293,MP:0001297,MP:0001314,MP:0005542 ORPHA:1065 Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome PAX6 Pax6 het embryo 29.17 HP:0000526 MP:0001297 ORPHA:1065 Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome PAX6 Pax6 hom embryo 26.69 HP:0000526 MP:0001293 ORPHA:107 Bor Syndrome SIX1 Six1 het embryo 16.31 HP:0009796 MP:0003231,MP:0001711 ORPHA:107 Bor Syndrome SIX1 Six1 het late 33.61 HP:0000083,HP:0000003,HP:0008678,HP:0000076,HP:0000074,HP:0000126 MP:0003068,MP:0002135,MP:0002989 ORPHA:107 Bor Syndrome SIX1 Six1 hom embryo 15.875 HP:0009796 MP:0001711,MP:0003984 ORPHA:110 Bardet-Biedl Syndrome MKS1 Mks1 het early 16.705 HP:0010747,HP:0002230 MP:0000579 ORPHA:110 Bardet-Biedl Syndrome BBS5 Bbs5 hom early 31.535 HP:0006101,HP:0001162,HP:0000580,HP:0001513 MP:0003961,MP:0001325,MP:0002764 ORPHA:110 Bardet-Biedl Syndrome IFT172 Ift172 het early 34.465 HP:0000580,HP:0001162,HP:0006101 MP:0010097,MP:0002110 ORPHA:110 Bardet-Biedl Syndrome IFT172 Ift172 hom embryo 23.475 HP:0000822,HP:0004322,HP:0000470 MP:0002884,MP:0001914,MP:0003984 ORPHA:110 Bardet-Biedl Syndrome NPHP1 Nphp1 hom early 42.405 HP:0000028,HP:0008736,HP:0008724,HP:0000135 MP:0001147,MP:0001120,MP:0001925,MP:0004906,MP:0001146,MP:0009709 ORPHA:110 Bardet-Biedl Syndrome CEP19 Cep19 hom early 36.755 HP:0010747,HP:0000580,HP:0002230,HP:0001513 MP:0003961,MP:0003731,MP:0001510,MP:0011965 ORPHA:110 Bardet-Biedl Syndrome SCAPER Scaper hom early 20.355 HP:0000028,HP:0008724,HP:0000135 MP:0001925 ORPHA:110 Bardet-Biedl Syndrome BBS2 Bbs2 het early 16.1 HP:0001513 MP:0003961 ORPHA:110 Bardet-Biedl Syndrome SCLT1 Sclt1 hom embryo 37.395 HP:0006101,HP:0001162 MP:0000562 ORPHA:110 Bardet-Biedl Syndrome CEP290 Cep290 hom embryo 20.905 HP:0000822 MP:0001914 ORPHA:110 Bardet-Biedl Syndrome BBIP1 Bbip1 het early 25.28 HP:0000028,HP:0008724,HP:0001395,HP:0000470 MP:0000160,MP:0001944 ORPHA:110 Bardet-Biedl Syndrome BBS12 Bbs12 het early 18.61 HP:0000028,HP:0008724,HP:0001395 MP:0000703,MP:0000689,MP:0000691,MP:0000709 ORPHA:1106 Microphthalmia With Limb Anomalies SMOC1 Smoc1 het early 16.24 HP:0000534 MP:0002075 ORPHA:1106 Microphthalmia With Limb Anomalies SMOC1 Smoc1 het early 38.86 HP:0000327,HP:0010650,HP:0000347 MP:0000455 ORPHA:1106 Microphthalmia With Limb Anomalies SMOC1 Smoc1 hom early 62.985 HP:0000347,HP:0000327,HP:0002982,HP:0001215,HP:0001849,HP:0004209,HP:0005736,HP:0005048,HP:0007598,HP:0006101,HP:0010650,HP:0001180,HP:0001830,HP:0001770,HP:0003042,HP:0002814,HP:0001162,HP:0000648,HP:0003038,HP:0001762,HP:0005916,HP:0011304,HP:0000534,HP:0006487,HP:0001852,HP:0008368,HP:0001172,HP:0002827,HP:0003026,HP:0002817,HP:0000581 MP:0004509,MP:0008259,MP:0002792,MP:0005287,MP:0000564,MP:0002110,MP:0010097,MP:0002764,MP:0001325,MP:0000455,MP:0006243 ORPHA:1146 Distal Arthrogryposis Type 1 TNNI2 Tnni2 het early 14.39 HP:0100490 MP:0010025 ORPHA:1146 Distal Arthrogryposis Type 1 NALCN Nalcn het embryo 49.705 HP:0100490,HP:0001838,HP:0009465,HP:0003272,HP:0010557,HP:0001181 MP:0000562,MP:0000564 ORPHA:1146 Distal Arthrogryposis Type 1 NALCN Nalcn hom embryo 49.705 HP:0100490,HP:0001838,HP:0009465,HP:0003272,HP:0010557,HP:0001181 MP:0000562,MP:0000564 ORPHA:1147 Sheldon-Hall Syndrome NALCN Nalcn het embryo 38.665 HP:0003049,HP:0008368,HP:0001181,HP:0009465,HP:0006501,HP:0003272,HP:0010557,HP:0007598 MP:0000562,MP:0000564 ORPHA:1147 Sheldon-Hall Syndrome NALCN Nalcn hom embryo 38.665 HP:0003049,HP:0008368,HP:0001181,HP:0009465,HP:0006501,HP:0003272,HP:0010557,HP:0007598 MP:0000562,MP:0000564 ORPHA:1149 Kuskokwim Syndrome FKBP10 Fkbp10 het early 23.135 HP:0001387 MP:0002896 ORPHA:115 Congenital Contractural Arachnodactyly FBN2 Fbn2 hom early 39.41 HP:0008453,HP:0001166,HP:0100490,HP:0001083,HP:0001387,HP:0001371,HP:0001634,HP:0002803,HP:0002650,HP:0002804 MP:0000572,MP:0000552,MP:0001314,MP:0004609,MP:0005296,MP:0004599,MP:0000274,MP:0002187,MP:0000564,MP:0000558,MP:0005108,MP:0000266,MP:0002110,MP:0004509,MP:0000559,MP:0002932,MP:0006241,MP:0005298,MP:0005542 ORPHA:115 Congenital Contractural Arachnodactyly FBN2 Fbn2 hom late 23.56 HP:0001634 MP:0000274,MP:0000266,MP:0004857 ORPHA:117 Behçet Disease IL12A Il12a hom early 18.395 HP:0001369,HP:0010885 MP:0004609 ORPHA:117 Behçet Disease TLR4 Tlr4 hom early 30.92 HP:0002239,HP:0100796,HP:0002024 MP:0009476,MP:0000494,MP:0004906,MP:0001120 ORPHA:117 Behçet Disease ERAP1 Erap1 hom early 10.025 HP:0001744 MP:0005505 ORPHA:117 Behçet Disease ERAP1 Erap1 hom late 22.03 HP:0001744,HP:0001733,HP:0002039,HP:0001824 MP:0001399,MP:0003960,MP:0000598 ORPHA:117 Behçet Disease IFNGR1 Ifngr1 hom early 34.25 HP:0001097,HP:0000518 MP:0001304 ORPHA:117 Behçet Disease STAT4 Stat4 hom early 26.035 HP:0001097,HP:0000083,HP:0000518 MP:0002135,MP:0001314,MP:0002989 ORPHA:117 Behçet Disease UBAC2 Ubac2 hom early 30.94 HP:0002239,HP:0001289,HP:0002024,HP:0000737,HP:0002354 MP:0009476,MP:0001417 ORPHA:1171 Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome ATP1A3 Atp1a3 het early 45.745 HP:0001251,HP:0100543,HP:0002015 MP:0001399,MP:0001392,MP:0001364,MP:0001415 ORPHA:1173 Cerebellar Ataxia-Hypogonadism Syndrome RNF216 Rnf216 hom early 33.715 HP:0000135,HP:0000044,HP:0000144 MP:0001925 ORPHA:1190 Atelosteogenesis Type I FLNB Flnb het early 27.84 HP:0009107,HP:0004599 MP:0000063,MP:0010124 ORPHA:1194 Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy TMEM70 Tmem70 het embryo 34.34 HP:0001510,HP:0001511 MP:0001697,MP:0003984 ORPHA:1194 Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy TMEM70 Tmem70 hom embryo 33.76 HP:0001510,HP:0001511 MP:0003984,MP:0001697 ORPHA:1195 Congenital Atransferrinemia TF Trf het early 45.59 HP:0001903 MP:0005561 ORPHA:1195 Congenital Atransferrinemia TF Trf het late 46.99 HP:0001903 MP:0001589 ORPHA:1215 Autosomal Dominant Optic Atrophy Plus Syndrome OPA1 Opa1 hom embryo 23.28 HP:0001638 MP:0000266 ORPHA:1231 Barber-Say Syndrome TWIST2 Twist2 het early 18.45 HP:0100783,HP:0002557,HP:0000049 MP:0001147,MP:0001146 ORPHA:1263 Boomerang Dysplasia FLNB Flnb het early 41.805 HP:0001539,HP:0100569,HP:0100856,HP:0011849 MP:0010124,MP:0000063,MP:0010024 ORPHA:127 Borjeson-Forssman-Lehmann Syndrome PHF6 Phf6 het early 20.475 HP:0009748,HP:0000365 MP:0004738 ORPHA:1272 Aymé-Gripp Syndrome MAF Maf het late 22.82 HP:0001701,HP:0000093,HP:0001698,HP:0000028,HP:0003187 MP:0000274,MP:0000266,MP:0004832,MP:0009552,MP:0003068,MP:0002989,MP:0002135,MP:0001126 ORPHA:1272 Aymé-Gripp Syndrome MAF Maf hom embryo 22.86 HP:0001698,HP:0008897,HP:0004322 MP:0001785,MP:0003984 ORPHA:1275 Brachydactyly-Elbow Wrist Dysplasia Syndrome PITX1 Pitx1 het early 54.605 HP:0001156,HP:0009832,HP:0040071,HP:0003042,HP:0003063,HP:0006501,HP:0004209,HP:0005048 MP:0000572,MP:0002932,MP:0000558,MP:0008730,MP:0002110,MP:0000559,MP:0004083 ORPHA:1299 Branchioskeletogenital Syndrome CDH11 Cdh11 hom early 21.915 HP:0000071,HP:0002561,HP:0000042,HP:0000252,HP:0000054,HP:0002836,HP:0000808 MP:0001147,MP:0011496,MP:0003068,MP:0002135,MP:0001146 ORPHA:1300 Autosomal Dominant Popliteal Pterygium Syndrome IRF6 Irf6 hom early 18.035 HP:0008288 MP:0005553,MP:0010090,MP:0005343 ORPHA:1333 Familial Pancreatic Carcinoma PALB2 Palb2 het early 24.18 HP:0000819 MP:0002079 ORPHA:1333 Familial Pancreatic Carcinoma TP53 Trp53 hom early 15.355 HP:0100592,HP:0001433 MP:0012362 ORPHA:1334 Chronic Mucocutaneous Candidiasis IL17RA Il17ra hom early 38.925 HP:0000142,HP:0012115 MP:0000601,MP:0001126,MP:0001120,MP:0000598 ORPHA:1334 Chronic Mucocutaneous Candidiasis IL17RC Il17rc hom early 34.505 HP:0000790,HP:0000142,HP:0012115 MP:0000691,MP:0002989,MP:0000689,MP:0002135,MP:0001126 ORPHA:134 Beta-Ketothiolase Deficiency ACAT1 Acat1 hom early 26.24 HP:0012523,HP:0000713,HP:0002039 MP:0001399 ORPHA:1340 Cardiofaciocutaneous Syndrome MAP2K2 Map2k2 hom early 27.445 HP:0001531 MP:0001262 ORPHA:1359 Carney Complex PDE11A Pde11a hom early 43.06 HP:0002890,HP:0002895,HP:0100618,HP:0012206,HP:0012887,HP:0006731,HP:0000826,HP:0000138,HP:0003118,HP:0012041,HP:0000008,HP:0025274,HP:0000845,HP:0010788,HP:0025451,HP:0030269,HP:0000053,HP:0100619,HP:0000870,HP:0002894,HP:0000866,HP:0001580,HP:0000798,HP:0025318,HP:0011760,HP:0030075 MP:0001147,MP:0009709,MP:0001120,MP:0001146,MP:0001126 ORPHA:136 Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy NOTCH3 Notch3 hom early 37.835 HP:0000819,HP:0010992 MP:0002135,MP:0005292,MP:0003068,MP:0003917 ORPHA:1366 Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia LSS Lss het early 41.79 HP:0000518 MP:0001303 ORPHA:1369 Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome SLC25A4 Slc25a4 hom early 21.865 HP:0001639 MP:0002833 ORPHA:1369 Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome TKFC Tkfc hom early 26.56 HP:0001639 MP:0000274,MP:0000266 ORPHA:137605 Legius Syndrome SPRED1 Spred1 hom early 39.86 HP:0000752,HP:0030052,HP:0004845,HP:0000997,HP:0100615,HP:0001634,HP:0007565,HP:0009588,HP:0032077,HP:0001642,HP:0001332,HP:0002650,HP:0007018,HP:0000365 MP:0001486,MP:0002059,MP:0000274,MP:0010168,MP:0008039,MP:0000691,MP:0004599,MP:0000703,MP:0000689,MP:0010850,MP:0001126,MP:0020421,MP:0002797,MP:0004952,MP:0013772,MP:0000745,MP:0004613,MP:0004738,MP:0013520,MP:0011239,MP:0013523,MP:0004609,MP:0000709,MP:0000266,MP:0001157,MP:0000219,MP:0000137,MP:0005016 ORPHA:137634 Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome RNF135 Rnf135 hom late 19.43 HP:0012741 MP:0002637,MP:0001127 ORPHA:137667 Capillary Malformation-Arteriovenous Malformation RASA1 Rasa1 het early 20.88 HP:0001627 MP:0002833 ORPHA:137888 Auriculocondylar Syndrome PLCB4 Plcb4 hom early 20.67 HP:0000368,HP:0000377,HP:0009902,HP:0008572,HP:0030022,HP:0008772,HP:0009895,HP:0000365 MP:0004738 ORPHA:138 Charge Syndrome SEMA3E Sema3e hom early 32.805 HP:0000648,HP:0000612,HP:0000567 MP:0001319,MP:0001289,MP:0010097,MP:0006243,MP:0001325,MP:0006241 ORPHA:1388 Catel-Manzke Syndrome TGDS Tgds hom embryo 29.235 HP:0001631,HP:0001629 MP:0000266,MP:0000269 ORPHA:139396 X-Linked Cerebral Adrenoleukodystrophy ABCD1 Abcd1 hem early 19.41 HP:0004359 MP:0008821 ORPHA:139399 Adrenomyeloneuropathy ABCD1 Abcd1 hem early 19.06 HP:0004359 MP:0008821 ORPHA:139471 Microphthalmia With Brain And Digit Anomalies BMP4 Bmp4 het early 49.24 HP:0000518,HP:0000556,HP:0000647,HP:0000482,HP:0000567,HP:0000612 MP:0011960,MP:0008259,MP:0001322,MP:0003733,MP:0011965,MP:0003731,MP:0001325,MP:0011962 ORPHA:139471 Microphthalmia With Brain And Digit Anomalies BMP4 Bmp4 het embryo 44.585 HP:0000568,HP:0000528 MP:0001297 ORPHA:139536 Distal Hereditary Motor Neuropathy Type 5 BSCL2 Bscl2 hom early 42.965 HP:0002317,HP:0001765,HP:0008081,HP:0009053,HP:0001761 MP:0001406,MP:0001402,MP:0002764 ORPHA:139536 Distal Hereditary Motor Neuropathy Type 5 GARS1 Gars1 het early 21.74 HP:0001765 MP:0000157 ORPHA:140952 Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome CCNQ Ccnq het embryo 16.485 HP:0004322 MP:0003984 ORPHA:1412 Tarsal-Carpal Coalition Syndrome NOG Nog hom embryo 19.97 HP:0004322 MP:0003984 ORPHA:141291 Cleft Lip And Alveolus MSX1 Msx1 het early 22.245 HP:0002015 MP:0020870 ORPHA:141291 Cleft Lip And Alveolus MSX1 Msx1 hom embryo 26.435 HP:0000668,HP:0100267 MP:0000111 ORPHA:1416 Familial Calcium Pyrophosphate Deposition TNFRSF11B Tnfrsf11b hom early 20.83 HP:0001369,HP:0002758,HP:0001376 MP:0000063 ORPHA:1425 Desbuquois Syndrome XYLT1 Xylt1 hom embryo 19.14 HP:0100490,HP:0002673,HP:0200055,HP:0002812,HP:0002974,HP:0004209,HP:0003366,HP:0000944 MP:0002109 ORPHA:1426 Greenberg Dysplasia LBR Lbr hom early 45.96 HP:0001881,HP:0100569,HP:0008905,HP:0002983,HP:0000347,HP:0009106,HP:0006619,HP:0011849,HP:0004331,HP:0001156 MP:0003795,MP:0000550,MP:0000063,MP:0005562,MP:0002764,MP:0002110,MP:0000219,MP:0010124,MP:0000220,MP:0005016 ORPHA:144 Lynch Syndrome MLH1 Mlh1 hom early 16.335 HP:0002894,HP:0006725,HP:0002893,HP:0100615,HP:0001402,HP:0100031 MP:0001147,MP:0004952 ORPHA:144 Lynch Syndrome PMS1 Pms1 hom early 26.7 HP:0100571 MP:0000274,MP:0000266 ORPHA:144 Lynch Syndrome TGFBR2 Tgfbr2 het early 29.755 HP:0002894,HP:0100571,HP:0006725,HP:0001402 MP:0000601,MP:0000274,MP:0000266,MP:0000598 ORPHA:1452 Cleidocranial Dysplasia RUNX2 Runx2 het early 56.995 HP:0000303,HP:0000347,HP:0002812,HP:0008821,HP:0004209,HP:0003298,HP:0004331,HP:0000682,HP:0001182,HP:0011069,HP:0000939,HP:0002644,HP:0000894,HP:0002650,HP:0000684,HP:0005916,HP:0001156,HP:0000882,HP:0200021,HP:0001172,HP:0000670,HP:0005107,HP:0002857,HP:0010669,HP:0005930 MP:0003795,MP:0005296,MP:0004599,MP:0005298,MP:0005270,MP:0004509,MP:0000137,MP:0010124 ORPHA:1454 Joubert Syndrome With Hepatic Defect INPP5E Inpp5e het early 12.84 HP:0001409 MP:0006203 ORPHA:1454 Joubert Syndrome With Hepatic Defect INPP5E Inpp5e hom embryo 37.7 HP:0002085,HP:0001320,HP:0001162,HP:0000238,HP:0007360 MP:0000562,MP:0001697,MP:0002109,MP:0003720,MP:0000841 ORPHA:1458 Codas Syndrome LONP1 Lonp1 het early 37.995 HP:0000518 MP:0001303 ORPHA:1465 Coffin-Siris Syndrome DPF2 Dpf2 het early 21.995 HP:0000028,HP:0000047,HP:0000085 MP:0002135,MP:0002059 ORPHA:1465 Coffin-Siris Syndrome DPF2 Dpf2 hom embryo 30.305 HP:0001629,HP:0001627,HP:0009237,HP:0001631,HP:0001511,HP:0030084,HP:0001636 MP:0000266,MP:0002109,MP:0001697 ORPHA:1465 Coffin-Siris Syndrome SMARCB1 Smarcb1 het early 21.29 HP:0002209,HP:0000574,HP:0011231,HP:0000294,HP:0001007,HP:0000998 MP:0001510 ORPHA:1465 Coffin-Siris Syndrome ARID1B Arid1b hom early 13.995 HP:0000028 MP:0001925 ORPHA:1465 Coffin-Siris Syndrome ARID1B Arid1b het early 26.18 HP:0002884,HP:0012523,HP:0000752,HP:0000718 MP:0020420,MP:0020421,MP:0000689 ORPHA:1465 Coffin-Siris Syndrome SMARCC2 Smarcc2 het early 24.6 HP:0012523,HP:0000752,HP:0000365,HP:0000718 MP:0020870,MP:0004738 ORPHA:1465 Coffin-Siris Syndrome SOX4 Sox4 het early 26.37 HP:0000752,HP:0000047,HP:0000718,HP:0000028,HP:0002884,HP:0012523 MP:0001120,MP:0004906,MP:0005084,MP:0020421,MP:0009342 ORPHA:1465 Coffin-Siris Syndrome SOX4 Sox4 hom embryo 28.89 HP:0001631,HP:0001636,HP:0001629,HP:0001627 MP:0000266 ORPHA:147 Carbamoyl-Phosphate Synthetase 1 Deficiency CPS1 Cps1 het early 29.505 HP:0005961,HP:0001987,HP:0001951 MP:0005178,MP:0005628,MP:0001556 ORPHA:1493 Vici Syndrome EPG5 Epg5 hom early 19.27 HP:0001638,HP:0001387 MP:0000062,MP:0002626 ORPHA:1501 Adrenocortical Carcinoma TP53 Trp53 het early 16.585 HP:0002900 MP:0010091 ORPHA:1507 Autosomal Recessive Robinow Syndrome NXN Nxn het early 39.07 HP:0000347,HP:0004209,HP:0007598,HP:0005048,HP:0006101,HP:0010059,HP:0001596,HP:0000028,HP:0001171,HP:0000431,HP:0003027,HP:0000637,HP:0009882,HP:0000508,HP:0001770,HP:0003042,HP:0000582,HP:0000527,HP:0003272,HP:0011304,HP:0001156,HP:0000286,HP:0001852,HP:0100490,HP:0003196,HP:0000494 MP:0000443,MP:0002110,MP:0002768,MP:0000627,MP:0001340,MP:0002764 ORPHA:1507 Autosomal Recessive Robinow Syndrome NXN Nxn het embryo 42.675 HP:0006101,HP:0010059,HP:0001770,HP:0007598,HP:0001156,HP:0001852,HP:0100490,HP:0003042,HP:0001171,HP:0000256,HP:0011304,HP:0003272,HP:0003027,HP:0004209,HP:0009882,HP:0005048 MP:0000564,MP:0000433 ORPHA:1507 Autosomal Recessive Robinow Syndrome NXN Nxn hom embryo 49.44 HP:0010804,HP:0000202,HP:0002714,HP:0000322,HP:0004209,HP:0005048,HP:0007598,HP:0006101,HP:0010059,HP:0002263,HP:0010807,HP:0011069,HP:0001171,HP:0000212,HP:0000256,HP:0003027,HP:0001537,HP:0011800,HP:0000174,HP:0009882,HP:0002007,HP:0001770,HP:0003042,HP:0000668,HP:0003272,HP:0010296,HP:0011304,HP:0001156,HP:0001852,HP:0100490,HP:0000164,HP:0000154,HP:0004397,HP:0000343,HP:0010297 MP:0011495,MP:0000111,MP:0000564,MP:0000433,MP:0001697 ORPHA:1507 Autosomal Recessive Robinow Syndrome NXN Nxn hom embryo 34.7 HP:0010804,HP:0002263,HP:0000164,HP:0010807,HP:0011069,HP:0000212,HP:0000202,HP:0002714,HP:0000154,HP:0004397,HP:0000322,HP:0000668,HP:0000343,HP:0001537,HP:0010297,HP:0010296,HP:0000174 MP:0000111,MP:0001697 ORPHA:1507 Autosomal Recessive Robinow Syndrome NXN Nxn hom embryo 34.755 HP:0002007,HP:0001537,HP:0011800 MP:0011495,MP:0001697 ORPHA:1507 Autosomal Recessive Robinow Syndrome ROR2 Ror2 hom embryo 41.325 HP:0010804,HP:0000202,HP:0002714,HP:0000322,HP:0004209,HP:0007598,HP:0005048,HP:0006101,HP:0010059,HP:0002263,HP:0010807,HP:0011069,HP:0001171,HP:0000212,HP:0003027,HP:0001537,HP:0000174,HP:0009882,HP:0001770,HP:0003042,HP:0000668,HP:0003272,HP:0010296,HP:0011304,HP:0001156,HP:0001852,HP:0100490,HP:0000164,HP:0000154,HP:0004397,HP:0008873,HP:0000343,HP:0010297 MP:0000562,MP:0000111,MP:0003231,MP:0002109,MP:0001711,MP:0003984 ORPHA:1515 Cranioectodermal Dysplasia IFT52 Ift52 het embryo 15.34 HP:0008905 MP:0003984 ORPHA:154 Familial Isolated Dilated Cardiomyopathy MYBPC3 Mybpc3 hom early 51.505 HP:0001644,HP:0003236 MP:0005627,MP:0000266,MP:0002833,MP:0008805 ORPHA:154 Familial Isolated Dilated Cardiomyopathy TPM1 Tpm1 het early 45.27 HP:0001644,HP:0003236 MP:0005553,MP:0010090,MP:0002833,MP:0008821 ORPHA:154 Familial Isolated Dilated Cardiomyopathy SDHA Sdha het early 24.24 HP:0003236 MP:0005633,MP:0001554 ORPHA:154 Familial Isolated Dilated Cardiomyopathy PSEN1 Psen1 hom embryo 21.985 HP:0001644 MP:0001914 ORPHA:154 Familial Isolated Dilated Cardiomyopathy LMNA Lmna het early 13.425 HP:0000982 MP:0002764 ORPHA:154 Familial Isolated Dilated Cardiomyopathy LDB3 Ldb3 het early 42.74 HP:0001644,HP:0001874 MP:0010392,MP:0002606,MP:0012362 ORPHA:154 Familial Isolated Dilated Cardiomyopathy CAP2 Cap2 het early 35.315 HP:0001644,HP:0001874 MP:0010506,MP:0005562,MP:0010570,MP:0010067,MP:0003233 ORPHA:154 Familial Isolated Dilated Cardiomyopathy LAMA4 Lama4 hom early 50.955 HP:0001644,HP:0003236,HP:0001874 MP:0002968,MP:0002833,MP:0002606 ORPHA:154 Familial Isolated Dilated Cardiomyopathy DSG2 Dsg2 hom early 38.24 HP:0001644 MP:0005140,MP:0002753 ORPHA:154 Familial Isolated Dilated Cardiomyopathy MYPN Mypn hom early 32.035 HP:0001874 MP:0000221 ORPHA:154 Familial Isolated Dilated Cardiomyopathy DSP Dsp hom embryo 25.705 HP:0001644 MP:0000266 ORPHA:154 Familial Isolated Dilated Cardiomyopathy DMD Dmd hem early 56.16 HP:0100578,HP:0003236,HP:0001874 MP:0005343,MP:0010025,MP:0002941,MP:0002591 ORPHA:154 Familial Isolated Dilated Cardiomyopathy DMD Dmd hom early 57.59 HP:0100578,HP:0003236,HP:0001874 MP:0002968,MP:0005343,MP:0002941,MP:0005562,MP:0005505,MP:0005568,MP:0002591,MP:0010025,MP:0010067,MP:0002965 ORPHA:154 Familial Isolated Dilated Cardiomyopathy RBM20 Rbm20 hom early 30.545 HP:0001644,HP:0003236,HP:0001874 MP:0000692,MP:0000277,MP:0001552 ORPHA:154 Familial Isolated Dilated Cardiomyopathy ABCC9 Abcc9 het early 45.525 HP:0001874 MP:0005016,MP:0000219 ORPHA:154 Familial Isolated Dilated Cardiomyopathy PSEN2 Psen2 hom early 32.585 HP:0001644,HP:0001874,HP:0000982 MP:0000709,MP:0005561,MP:0000266,MP:0002110,MP:0000703 ORPHA:1545 Crisponi Syndrome CLCF1 Clcf1 het early 31.275 HP:0001645,HP:0001371,HP:0100490,HP:0001376 MP:0000062,MP:0003233 ORPHA:1556 Cutis Marmorata Telangiectatica Congenita GNA11 Gna11 hom early 32.865 HP:0004349 MP:0000063,MP:0010123 ORPHA:1556 Cutis Marmorata Telangiectatica Congenita GNA11 Gna11 hom early 20.815 HP:0002650,HP:0004349 MP:0004609 ORPHA:1556 Cutis Marmorata Telangiectatica Congenita ARL6IP6 Arl6ip6 hom early 30.055 HP:0000541 MP:0003731 ORPHA:1571 Knobloch Syndrome COL18A1 Col18a1 hom early 42.855 HP:0000541,HP:0000518,HP:0001083,HP:0004327,HP:0000608,HP:0007773 MP:0008259,MP:0005102,MP:0002792,MP:0001303,MP:0001319,MP:0010097,MP:0001325,MP:0006241 ORPHA:1572 Common Variable Immunodeficiency NFKB1 Nfkb1 hom early 29.515 HP:0001878,HP:0001531,HP:0001973,HP:0001744,HP:0001888 MP:0003961,MP:0000218,MP:0005562 ORPHA:1572 Common Variable Immunodeficiency CD19 Cd19 hom early 39.75 HP:0001744,HP:0001878,HP:0001888,HP:0001973 MP:0000220,MP:0005016 ORPHA:157798 Serrated Polyposis Syndrome RNF43 Rnf43 hom early 14.13 HP:0100574,HP:0006725 MP:0000691 ORPHA:157846 Neuroferritinopathy FTL Ftl1 hom early 28.73 HP:0002355 MP:0001406 ORPHA:157846 Neuroferritinopathy FTL Ftl1 hom late 19.14 HP:0012343 MP:0004152 ORPHA:157973 Congenital Muscular Dystrophy Due To Lmna Mutation LMNA Lmna het early 13.58 HP:0001883 MP:0002764 ORPHA:158684 Epidermolysis Bullosa Simplex With Pyloric Atresia PLEC Plec hom embryo 25.945 HP:0001561 MP:0001785 ORPHA:158687 Lethal Acantholytic Erosive Disorder JUP Jup hom embryo 29.055 HP:0001511,HP:0001562 MP:0001785,MP:0001697 ORPHA:158687 Lethal Acantholytic Erosive Disorder DSP Dsp hom embryo 26.255 HP:0000695,HP:0001638,HP:0001640 MP:0002884,MP:0000266 ORPHA:1606 1P36 Deletion Syndrome PDPN Pdpn het early 13.77 HP:0000534,HP:0011228,HP:0002230 MP:0001284 ORPHA:1606 1P36 Deletion Syndrome CASZ1 Casz1 het early 17.63 HP:0001644,HP:0000648,HP:0001009 MP:0001289,MP:0003900 ORPHA:1606 1P36 Deletion Syndrome KCNAB2 Kcnab2 hom early 27.575 HP:0100490,HP:0001743,HP:0002591,HP:0001513,HP:0100716,HP:0002015,HP:0001508,HP:0000733 MP:0000702,MP:0002339,MP:0003961,MP:0010024,MP:0001399 ORPHA:1617 2Q24 Microdeletion Syndrome TBR1 Tbr1 het embryo 60.655 HP:0001770,HP:0100490,HP:0100807,HP:0010078,HP:0001188,HP:0000568 MP:0000562,MP:0001293,MP:0000564,MP:0001297 ORPHA:1617 2Q24 Microdeletion Syndrome TBR1 Tbr1 hom embryo 60.655 HP:0001770,HP:0100490,HP:0100807,HP:0010078,HP:0001188,HP:0000568 MP:0000562,MP:0001293,MP:0000564,MP:0001297 ORPHA:163681 Cntnap2-Related Developmental And Epileptic Encephalopathy CNTNAP2 Cntnap2 hom early 30.61 HP:0001268,HP:0007064,HP:0000744 MP:0001415 ORPHA:163690 Hypotonia-Cystinuria Syndrome SLC3A1 Slc3a1 hom early 35.295 HP:0001508,HP:0000787,HP:0003131 MP:0008528,MP:0011625,MP:0009552,MP:0000538,MP:0003068,MP:0002989,MP:0002135,MP:0003960,MP:0011874,MP:0003917 ORPHA:163690 Hypotonia-Cystinuria Syndrome PREPL Prepl hom early 40.155 HP:0000286,HP:0000508 MP:0005176,MP:0005287 ORPHA:163693 2P21 Microdeletion Syndrome CAMKMT Camkmt hom early 38.945 HP:0002901,HP:0003131 MP:0005553,MP:0005565,MP:0005633 ORPHA:163693 2P21 Microdeletion Syndrome SLC3A1 Slc3a1 hom early 37.315 HP:0000787,HP:0001508,HP:0002901,HP:0003131 MP:0002968,MP:0005565,MP:0008528,MP:0011625,MP:0005178,MP:0009552,MP:0000538,MP:0001556,MP:0003068,MP:0002989,MP:0002135,MP:0003960,MP:0011874,MP:0003917 ORPHA:163693 2P21 Microdeletion Syndrome PREPL Prepl hom early 32.495 HP:0000527 MP:0005176,MP:0005287 ORPHA:163956 X-Linked Intellectual Disability, Nascimento Type UBE2A Ube2a hem early 24.615 HP:0000722,HP:0000718 MP:0001399 ORPHA:163956 X-Linked Intellectual Disability, Nascimento Type UBE2A Ube2a hom early 19.32 HP:0001629,HP:0000028,HP:0001719,HP:0001718,HP:0001636,HP:0001655 MP:0002833,MP:0001926 ORPHA:166002 Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly COL9A2 Col9a2 hom early 65.66 HP:0002515,HP:0003946,HP:0002815,HP:0003045,HP:0002758,HP:0003365,HP:0003999,HP:0002812,HP:0002857,HP:0009826,HP:0012770,HP:0005930,HP:0006190,HP:0010631,HP:0010665,HP:0006055,HP:0009189,HP:0003028,HP:0002970 MP:0004509,MP:0000552,MP:0005296,MP:0000558,MP:0005108,MP:0001402,MP:0002764,MP:0000559,MP:0002932 ORPHA:166035 Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome CWC27 Cwc27 hom early 15.555 HP:0000028 MP:0001925 ORPHA:166119 Isolated Osteopoikilosis LEMD3 Lemd3 het early 25.925 HP:0030955 MP:0020870,MP:0001364,MP:0001399 ORPHA:1662 Restrictive Dermopathy LMNA Lmna het early 15.37 HP:0010219,HP:0006710,HP:0100490,HP:0000347 MP:0002764 ORPHA:167 Chédiak-Higashi Syndrome LYST Lyst hom early 46.93 HP:0004527,HP:0001922,HP:0001875,HP:0001010,HP:0012176,HP:0007730,HP:0001251,HP:0001433,HP:0001288,HP:0005585,HP:0001903,HP:0001881,HP:0007703,HP:0005599,HP:0002540,HP:0031408,HP:0011990,HP:0001873,HP:0001876,HP:0001744,HP:0012156 MP:0002590,MP:0001322,MP:0005561,MP:0001402,MP:0002075,MP:0001325 ORPHA:1675 Dihydropyrimidine Dehydrogenase Deficiency DPYD Dpyd hom early 22.265 HP:0002540,HP:0000218 MP:0000470,MP:0002574 ORPHA:168569 H Syndrome SLC29A3 Slc29a3 hom early 45.475 HP:0002155,HP:0009125,HP:0000819,HP:0001935,HP:0001433,HP:0100790,HP:0012385,HP:0100727 MP:0004151,MP:0005179,MP:0010025,MP:0005642,MP:0002941,MP:0005562,MP:0002875,MP:0002874,MP:0008806,MP:0005419,MP:0002599,MP:0005560,MP:0005343,MP:0000186,MP:0003179,MP:0000183,MP:0005633,MP:0005344,MP:0003019,MP:0005567,MP:0010067,MP:0000208,MP:0002644,MP:0000218 ORPHA:168569 H Syndrome SLC29A3 Slc29a3 hom early 52.625 HP:0002024,HP:0001935,HP:0100776,HP:0011025,HP:0002110,HP:0001433,HP:0002716,HP:0000027,HP:0000135,HP:0007380,HP:0000054,HP:0008734,HP:0000105,HP:0100727 MP:0005333,MP:0011503,MP:0002059,MP:0000599,MP:0002989,MP:0002135,MP:0001175,MP:0000702,MP:0000691,MP:0001120,MP:0009483,MP:0000703,MP:0000689,MP:0009476,MP:0000495,MP:0000706,MP:0002981,MP:0004952,MP:0002339,MP:0000470,MP:0011882,MP:0010506,MP:0001157,MP:0000598,MP:0002637,MP:0000494 ORPHA:168796 Heart-Hand Syndrome, Slovenian Type LMNA Lmna het early 26.325 HP:0001760,HP:0001156 MP:0002764 ORPHA:169095 Severe Combined Immunodeficiency Due To Foxn1 Deficiency FOXN1 Foxn1 hom early 23.8 HP:0005403 MP:0000703,MP:0000705 ORPHA:169186 Autosomal Recessive Centronuclear Myopathy RYR1 Ryr1 het early 16.1 HP:0001712 MP:0004952 ORPHA:169189 Autosomal Dominant Centronuclear Myopathy MTMR14 Mtmr14 hom early 38.605 HP:0008180 MP:0005343,MP:0002941,MP:0008806,MP:0002944 ORPHA:169189 Autosomal Dominant Centronuclear Myopathy DNM2 Dnm2 het early 36.58 HP:0000028,HP:0008180 MP:0002968,MP:0009709,MP:0004906 ORPHA:171 Primary Sclerosing Cholangitis SEMA4D Sema4d hom early 42.57 HP:0000938,HP:0001879,HP:0003073,HP:0001395,HP:0100575,HP:0002240,HP:0001409,HP:0000939,HP:0012115,HP:0001433,HP:0001541,HP:0100727,HP:0030153,HP:0001396,HP:0001081,HP:0012440,HP:0001744,HP:0000952,HP:0001394,HP:0001402,HP:0001733 MP:0002968,MP:0000274,MP:0000691,MP:0010124 ORPHA:171430 Severe Congenital Nemaline Myopathy LMOD3 Lmod3 het early 18.62 HP:0000054,HP:0000047 MP:0003068,MP:0002135 ORPHA:171430 Severe Congenital Nemaline Myopathy LMOD3 Lmod3 het late 18.575 HP:0000054,HP:0000047 MP:0002135,MP:0009084,MP:0002989 ORPHA:171430 Severe Congenital Nemaline Myopathy LMOD3 Lmod3 hom early 36.16 HP:0003202,HP:0000047,HP:0010628,HP:0009025,HP:0005855,HP:0001371,HP:0001349,HP:0003803,HP:0002804,HP:0000054,HP:0003798,HP:0000775 MP:0000063,MP:0000538,MP:0010025,MP:0010024,MP:0000759,MP:0011874 ORPHA:171436 Typical Nemaline Myopathy LMOD3 Lmod3 het late 20.58 HP:0003236 MP:0005565 ORPHA:171436 Typical Nemaline Myopathy LMOD3 Lmod3 hom early 38.565 HP:0002515,HP:0010628,HP:0003236,HP:0030198,HP:0030200,HP:0003325,HP:0001371,HP:0003557,HP:0001349,HP:0003198,HP:0001288,HP:0003803,HP:0030196,HP:0002804,HP:0003798,HP:0009027 MP:0000186,MP:0000063,MP:0001402,MP:0010025,MP:0010024,MP:0000759,MP:0009142 ORPHA:171445 Muscle Filaminopathy FLNC Flnc hom embryo 27.53 HP:0001712,HP:0001638 MP:0000266,MP:0000269 ORPHA:171629 Autosomal Recessive Spastic Paraplegia Type 35 FA2H Fa2h hom early 23.93 HP:0100515,HP:0000648,HP:0000020,HP:0010677 MP:0003068,MP:0001325,MP:0002699,MP:0002135 ORPHA:171695 Parkinsonian-Pyramidal Syndrome SNCA Snca hom early 25.75 HP:0002362 MP:0001392 ORPHA:171706 Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency SECISBP2 Secisbp2 het early 23.095 HP:0031903 MP:0005634 ORPHA:1727 22Q11.2 Duplication Syndrome TBX1 Tbx1 het early 37.375 HP:0007018,HP:0000733,HP:0000722 MP:0001399 ORPHA:1727 22Q11.2 Duplication Syndrome TBX1 Tbx1 hom embryo 18.275 HP:0001510 MP:0003984 ORPHA:1775 Dyskeratosis Congenita NHP2 Nhp2 het early 29.54 HP:0001903,HP:0001873,HP:0001874,HP:0001744 MP:0002599 ORPHA:1775 Dyskeratosis Congenita WRAP53 Wrap53 het early 17.505 HP:0001744,HP:0002240 MP:0002833 ORPHA:1782 Dysosteosclerosis SLC29A3 Slc29a3 hom early 12.225 HP:0000682 MP:0010025 ORPHA:1782 Dysosteosclerosis SLC29A3 Slc29a3 hom early 31.31 HP:0008479,HP:0003301,HP:0000926 MP:0002759 ORPHA:178333 Åland Islands Eye Disease CACNA1F Cacna1f hom early 36.355 HP:0007750,HP:0007894 MP:0001333 ORPHA:179494 Obesity Due To Leptin Receptor Gene Deficiency LEPR Lepr hom early 60.25 HP:0002155,HP:0000815,HP:0000831,HP:0008245,HP:0001513,HP:0000786,HP:0000842,HP:0008724,HP:0005407,HP:0000712,HP:0002591,HP:0008734 MP:0002590,MP:0005568,MP:0001552,MP:0001925,MP:0008810,MP:0002965,MP:0005564,MP:0002941,MP:0000194,MP:0005178,MP:0001566,MP:0003961,MP:0005627,MP:0004953,MP:0008806,MP:0001363,MP:0002599,MP:0001417,MP:0002968,MP:0005343,MP:0005561,MP:0003179,MP:0005011,MP:0001556,MP:0002608,MP:0000220,MP:0003020,MP:0000221,MP:0001926,MP:0001157,MP:0010067,MP:0000219,MP:0005559,MP:0005016 ORPHA:1826 Frontometaphyseal Dysplasia MAP3K7 Map3k7 het early 28.4 HP:0000481,HP:0000483 MP:0001303 ORPHA:1830 Schimke Immuno-Osseous Dysplasia SMARCAL1 Smarcal1 hom early 32.335 HP:0001873,HP:0410377,HP:0410373,HP:0001875,HP:0001888,HP:0001903 MP:0005564 ORPHA:1848 Renal Agenesis, Bilateral ITGA8 Itga8 het early 34.38 HP:0001958 MP:0005560 ORPHA:1848 Renal Agenesis, Bilateral GREB1L Greb1l hom embryo 24.615 HP:0010497 MP:0003720,MP:0001700,MP:0003984 ORPHA:1848 Renal Agenesis, Bilateral FGF20 Fgf20 hom early 41.955 HP:0005107,HP:0100335,HP:0002575,HP:0000175,HP:0010497,HP:0002242,HP:0000008 MP:0000572,MP:0004609,MP:0002059,MP:0004599,MP:0001120,MP:0004613,MP:0002110,MP:0000470,MP:0003883,MP:0000137,MP:0002100 ORPHA:186 Primary Biliary Cholangitis IL12RB1 Il12rb1 hom early 31.85 HP:0000953 MP:0011239 ORPHA:186 Primary Biliary Cholangitis IL12A Il12a hom early 23.345 HP:0002908,HP:0003119,HP:0000939,HP:0003073 MP:0004609,MP:0001556 ORPHA:186 Primary Biliary Cholangitis POU2AF1 Pou2af1 hom early 17.955 HP:0001409,HP:0000952,HP:0012115,HP:0002613,HP:0011040,HP:0001395,HP:0001394,HP:0001402 MP:0004953 ORPHA:1872 Cone Rod Dystrophy CACNA1F Cacna1f hom early 23.76 HP:0007703 MP:0001333 ORPHA:1872 Cone Rod Dystrophy DRAM2 Dram2 hom early 21.77 HP:0007703 MP:0002075 ORPHA:1872 Cone Rod Dystrophy CACNA2D4 Cacna2d4 hom early 46.05 HP:0007703 MP:0001325,MP:0010097 ORPHA:1872 Cone Rod Dystrophy TLCD3B Tlcd3b hom early 46.78 HP:0007703 MP:0003731,MP:0011965 ORPHA:1872 Cone Rod Dystrophy CRX Crx hom early 36.28 HP:0007703 MP:0001325 ORPHA:1885 Isolated Ectopia Lentis ADAMTSL4 Adamtsl4 hom late 69.41 HP:0009918,HP:0000518,HP:0001083 MP:0001319,MP:0001304,MP:0006241 ORPHA:189427 Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease GNAS Gnas hom early 15.975 HP:0012743,HP:0004324 MP:0003960 ORPHA:1899 Arthrochalasia Ehlers-Danlos Syndrome COL1A2 Col1a2 hom early 38.565 HP:0000023,HP:0001001,HP:0100541,HP:0100699,HP:0002673,HP:0005743,HP:0001387,HP:0002827,HP:0002812,HP:0005692,HP:0001385 MP:0000559,MP:0000062,MP:0000558,MP:0010025 ORPHA:193 Cohen Syndrome VPS13B Vps13b hom early 36.41 HP:0007703,HP:0001135,HP:0001531,HP:0001629,HP:0000028,HP:0000648,HP:0001513,HP:0001634,HP:0001875,HP:0000612 MP:0002590,MP:0002792,MP:0001303,MP:0002188,MP:0000221,MP:0001289,MP:0003961,MP:0001925,MP:0010097,MP:0001325,MP:0000692,MP:0005016 ORPHA:1934 Early Infantile Epileptic Encephalopathy DMXL2 Dmxl2 het early 15.92 HP:0001537,HP:0001508 MP:0003961,MP:0010024 ORPHA:1934 Early Infantile Epileptic Encephalopathy SIK1 Sik1 hom early 23.405 HP:0001629,HP:0000070,HP:0001537,HP:0000054,HP:0001508,HP:0000110 MP:0003960,MP:0002833,MP:0003917,MP:0010025 ORPHA:1934 Early Infantile Epileptic Encephalopathy GNAO1 Gnao1 het early 37.88 HP:0000752,HP:0001337,HP:0001266,HP:0100716,HP:0001332,HP:0002131 MP:0001399,MP:0001364,MP:0001523 ORPHA:1934 Early Infantile Epileptic Encephalopathy PIGQ Pigq hom embryo 25.29 HP:0001629,HP:0009381,HP:0001500,HP:0001537,HP:0010174 MP:0002884,MP:0000269,MP:0001672,MP:0001691,MP:0001722,MP:0000266,MP:0001706,MP:0003229,MP:0002151,MP:0002861,MP:0002824,MP:0001718,MP:0001697,MP:0000288,MP:0001726,MP:0005650,MP:0003720,MP:0001700,MP:0003984 ORPHA:1934 Early Infantile Epileptic Encephalopathy GRM7 Grm7 hom early 39.775 HP:0000752,HP:0001337,HP:0001266,HP:0100716,HP:0001332,HP:0002131 MP:0001399,MP:0001513,MP:0001364,MP:0001523 ORPHA:1934 Early Infantile Epileptic Encephalopathy NEUROD2 Neurod2 hom early 42.475 HP:0000752,HP:0001332,HP:0001337,HP:0001266,HP:0100716,HP:0001500,HP:0009381,HP:0002131,HP:0010174 MP:0011940,MP:0002757,MP:0002797,MP:0001402,MP:0001363,MP:0002764,MP:0001399,MP:0001392,MP:0001489 ORPHA:1934 Early Infantile Epileptic Encephalopathy PNKP Pnkp het early 23.98 HP:0000054,HP:0000110,HP:0000070 MP:0003068,MP:0003604,MP:0002135 ORPHA:1942 Myoclonic-Astatic Epilepsy CHD2 Chd2 hom early 19.855 HP:0001159 MP:0002764 ORPHA:1942 Myoclonic-Astatic Epilepsy NEXMIF Nexmif hem early 42.845 HP:0001159,HP:0000752,HP:0007018 MP:0000157,MP:0009454,MP:0001399 ORPHA:1942 Myoclonic-Astatic Epilepsy NEXMIF Nexmif het early 43.34 HP:0001159,HP:0000752,HP:0007018 MP:0000157,MP:0001399 ORPHA:1947 Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type CLN8 Cln8 hom early 26.085 HP:0000543 MP:0001325,MP:0002699 ORPHA:198 Occipital Horn Syndrome ATP7A Atp7a hem early 27.02 HP:0002208,HP:0100874 MP:0002075 ORPHA:198 Occipital Horn Syndrome ATP7A Atp7a hem late 18.14 HP:0002208,HP:0100874 MP:0000367 ORPHA:198 Occipital Horn Syndrome ATP7A Atp7a hom early 27.02 HP:0002208,HP:0100874 MP:0002075 ORPHA:1980 Bilateral Striopallidodentate Calcinosis SLC20A2 Slc20a2 hom early 39.495 HP:0007957 MP:0001319,MP:0001304,MP:0001303,MP:0001322 ORPHA:1980 Bilateral Striopallidodentate Calcinosis JAM2 Jam2 hom early 22.395 HP:0002240 MP:0002833 ORPHA:1980 Bilateral Striopallidodentate Calcinosis PDGFRB Pdgfrb het early 23.39 HP:0002240 MP:0000274 ORPHA:199 Cornelia De Lange Syndrome HDAC8 Hdac8 hem early 16.075 HP:0002974,HP:0001387 MP:0000063 ORPHA:199 Cornelia De Lange Syndrome HDAC8 Hdac8 hom early 16.1 HP:0002974,HP:0001387 MP:0000063 ORPHA:199 Cornelia De Lange Syndrome SMC3 Smc3 het early 29.1 HP:0007665,HP:0002553,HP:0000664,HP:0000294,HP:0002162,HP:0001956,HP:0000527,HP:0002557,HP:0003196,HP:0001508,HP:0002230,HP:0000574 MP:0003961,MP:0001262,MP:0000443,MP:0002075 ORPHA:199 Cornelia De Lange Syndrome BRD4 Brd4 het early 31.085 HP:0001770,HP:0000518,HP:0040071,HP:0002983,HP:0000347,HP:0009623,HP:0001883,HP:0002827,HP:0200055,HP:0000482,HP:0001773,HP:0002974,HP:0001385,HP:0004209,HP:0010034,HP:0012165 MP:0011959,MP:0002764 ORPHA:199302 Isolated Cleft Lip MSX1 Msx1 het early 18.585 HP:0001696 MP:0002833 ORPHA:199302 Isolated Cleft Lip MSX1 Msx1 hom embryo 36.41 HP:0001572,HP:0100336,HP:0000220,HP:0100335,HP:0000668,HP:0006332 MP:0000111 ORPHA:199306 Cleft Lip/Palate MSX1 Msx1 het early 20.165 HP:0200136 MP:0020870 ORPHA:199306 Cleft Lip/Palate MSX1 Msx1 hom embryo 54.37 HP:0200153,HP:0100337,HP:0000220,HP:0006292,HP:0000689,HP:0000202,HP:0000175,HP:0010294,HP:0006342,HP:0011044,HP:0100334 MP:0000111 ORPHA:199306 Cleft Lip/Palate BMP4 Bmp4 het early 20.655 HP:0200136 MP:0001399,MP:0001364 ORPHA:199306 Cleft Lip/Palate ARHGAP29 Arhgap29 het early 18.05 HP:0000405 MP:0004738 ORPHA:199306 Cleft Lip/Palate COBLL1 Cobll1 hom early 48.895 HP:0200153,HP:0100337,HP:0000327,HP:0000220,HP:0006292,HP:0000689,HP:0000202,HP:0000175,HP:0010294,HP:0006342,HP:0011044,HP:0100334 MP:0013129 ORPHA:199343 East Syndrome KCNJ10 Kcnj10 het early 40 HP:0001251,HP:0002345 MP:0000745,MP:0001488 ORPHA:201 Cowden Syndrome SDHC Sdhc het early 20.23 HP:0001508 MP:0001260 ORPHA:201 Cowden Syndrome SDHB Sdhb het early 21.8 HP:0000036,HP:0001251 MP:0002135,MP:0001402 ORPHA:2020 Congenital Fiber-Type Disproportion Myopathy SELENON Selenon hom early 25.61 HP:0003273,HP:0001374,HP:0006466,HP:0003307,HP:0002751,HP:0001371,HP:0002987,HP:0006380,HP:0002650,HP:0012785 MP:0004609 ORPHA:2020 Congenital Fiber-Type Disproportion Myopathy MYL2 Myl2 het early 15.11 HP:0003273,HP:0006466,HP:0001371,HP:0002987,HP:0006380,HP:0012785 MP:0010024 ORPHA:2020 Congenital Fiber-Type Disproportion Myopathy HACD1 Hacd1 het embryo 24.99 HP:0001561 MP:0001785 ORPHA:2020 Congenital Fiber-Type Disproportion Myopathy HACD1 Hacd1 hom embryo 29.48 HP:0000218,HP:0000678,HP:0001561 MP:0001785,MP:0000111 ORPHA:2021 Fibrochondrogenesis COL11A1 Col11a1 hom embryo 41.675 HP:0100490,HP:0002983,HP:0000175,HP:0000940,HP:0000160,HP:0000944,HP:0001156 MP:0009908,MP:0000111,MP:0002109 ORPHA:2036 Scalp-Ear-Nipple Syndrome KCTD1 Kctd1 hom early 35.545 HP:0000822,HP:0000518 MP:0001304,MP:0006203,MP:0012121,MP:0005542 ORPHA:2050 Cole-Carpenter Syndrome P4HB P4hb hom embryo 31.8 HP:0001511,HP:0004322 MP:0003984 ORPHA:2053 Freeman-Sheldon Syndrome NALCN Nalcn het embryo 33.825 HP:0100490,HP:0001762,HP:0010489,HP:0009465 MP:0000562,MP:0000564 ORPHA:2053 Freeman-Sheldon Syndrome NALCN Nalcn hom embryo 33.825 HP:0100490,HP:0001762,HP:0010489,HP:0009465 MP:0000562,MP:0000564 ORPHA:2059 Fryns Syndrome PIGN Pign het early 35.905 HP:0000003,HP:0000047,HP:0000028,HP:0000813,HP:0000076,HP:0000126 MP:0002135,MP:0001146,MP:0001148,MP:0002989 ORPHA:2059 Fryns Syndrome PIGN Pign hom embryo 34.965 HP:0000568,HP:0001561 MP:0001785,MP:0001293 ORPHA:2065 Galloway-Mowat Syndrome LAGE3 Lage3 hem early 18.34 HP:0100490,HP:0001181 MP:0000157 ORPHA:2065 Galloway-Mowat Syndrome WDR4 Wdr4 het early 21.955 HP:0100490,HP:0001181 MP:0004357 ORPHA:206546 Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers DMD Dmd hem early 44.17 HP:0002987,HP:0003236 MP:0005343,MP:0002941,MP:0010025 ORPHA:206546 Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers DMD Dmd hom early 46.265 HP:0002987,HP:0003236 MP:0002968,MP:0005343,MP:0002941,MP:0005568,MP:0010025,MP:0002965 ORPHA:206599 Isolated Asymptomatic Elevation Of Creatine Phosphokinase CAV3 Cav3 hom early 30.26 HP:0008331,HP:0003236 MP:0000182 ORPHA:207 Crouzon Syndrome ERF Erf het early 28.11 HP:0000327,HP:0000189 MP:0002100 ORPHA:2072 Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome GBA1 Gba1 het early 29.58 HP:0004406,HP:0001876,HP:0001743,HP:0001744,HP:0001433,HP:0001903,HP:0002092,HP:0001873 MP:0010392,MP:0002599 ORPHA:2073 Narcolepsy Type 1 HCRT Hcrt hom early 32.15 HP:0001279 MP:0005333,MP:0010506 ORPHA:2088 Fanconi-Bickel Syndrome SLC2A2 Slc2a2 het early 42.58 HP:0000819,HP:0040270,HP:0002155,HP:0002148,HP:0003162,HP:0003076,HP:0011998 MP:0013279,MP:0006353 ORPHA:2089 Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency GYS2 Gys2 hom early 49.195 HP:0012734,HP:0003077,HP:0003076,HP:0011998,HP:0001508 MP:0005633,MP:0003442,MP:0000194,MP:0005568,MP:0003019,MP:0001262,MP:0003960,MP:0005560 ORPHA:2098 Acromesomelic Dysplasia, Grebe Type GDF5 Gdf5 hom early 44.775 HP:0009601,HP:0006487,HP:0001156,HP:0008368,HP:0002983,HP:0001387,HP:0001162,HP:0001831,HP:0005914,HP:0003038,HP:0001773,HP:0100387,HP:0005736,HP:0005048 MP:0000062,MP:0000572,MP:0000550,MP:0002110,MP:0000556 ORPHA:2098 Acromesomelic Dysplasia, Grebe Type BMPR1B Bmpr1b hom early 28.05 HP:0009601,HP:0006487,HP:0001156,HP:0008368,HP:0002983,HP:0001162,HP:0001831,HP:0003038,HP:0001773,HP:0100387,HP:0005736,HP:0005048,HP:0005914 MP:0000572 ORPHA:209902 Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency CYP7A1 Cyp7a1 hom early 48.615 HP:0003141,HP:0003124,HP:0002155 MP:0002968,MP:0011896,MP:0004151,MP:0005178,MP:0001556,MP:0005419,MP:0005344 ORPHA:209967 Episodic Ataxia Type 6 SLC1A3 Slc1a3 het early 26.615 HP:0001251 MP:0002574 ORPHA:209981 Irida Syndrome TMPRSS6 Tmprss6 hom early 28.3 HP:0011967 MP:0000194 ORPHA:210110 Intermediate Osteopetrosis PLEKHM1 Plekhm1 hom early 65.225 HP:0003418,HP:0004618,HP:0002754,HP:0002757,HP:0005652,HP:0005789,HP:0001293,HP:0002659,HP:0005746,HP:0004348,HP:0007958,HP:0002901,HP:0004975 MP:0000062,MP:0008259,MP:0005343,MP:0002941,MP:0010123,MP:0002764,MP:0000137 ORPHA:210571 Dystonia 16 PRKRA Prkra hom early 24.46 HP:0002015 MP:0020421 ORPHA:2114 Hip Dysplasia, Beukes Type UFSP2 Ufsp2 het embryo 35.58 HP:0010574,HP:0009107,HP:0002812,HP:0001385,HP:0005930,HP:0006429 MP:0000562,MP:0000564 ORPHA:2117 Hartsfield Syndrome FGFR1 Fgfr1 hom embryo 36.925 HP:0002084,HP:0001511 MP:0001697,MP:0003984 ORPHA:2126 Solitary Fibrous Tumor NAB2 Nab2 hom early 29.19 HP:0004912,HP:0030795,HP:0002585,HP:0002896 MP:0005179,MP:0000186,MP:0000598 ORPHA:2131 Alternating Hemiplegia Of Childhood SLC1A3 Slc1a3 het early 31.48 HP:0001251,HP:0002039,HP:0000718,HP:0200136,HP:0100710,HP:0001266,HP:0002015 MP:0002574 ORPHA:2131 Alternating Hemiplegia Of Childhood ATP1A3 Atp1a3 het early 37.125 HP:0001251,HP:0002039,HP:0000718,HP:0200136,HP:0100710,HP:0002344,HP:0001266,HP:0002015,HP:0000712 MP:0001399,MP:0001392,MP:0001364,MP:0001415 ORPHA:2131 Alternating Hemiplegia Of Childhood CACNA1A Cacna1a het early 31.04 HP:0002039,HP:0000718,HP:0200136,HP:0100710,HP:0002015,HP:0000712 MP:0020421 ORPHA:2136 Hennekam Syndrome CCBE1 Ccbe1 het early 12.99 HP:0001744 MP:0000601,MP:0000598 ORPHA:2136 Hennekam Syndrome CCBE1 Ccbe1 hom embryo 35.485 HP:0001004,HP:0001698,HP:0001744,HP:0001789,HP:0010310,HP:0001541 MP:0001785,MP:0000603 ORPHA:215 Congenital Stationary Night Blindness GRM6 Grm6 hom early 26.315 HP:0007703,HP:0030329,HP:0030639,HP:0030638 MP:0006243 ORPHA:215 Congenital Stationary Night Blindness TRPM1 Trpm1 hom early 26.58 HP:0007703,HP:0030329,HP:0030639,HP:0030638 MP:0006243 ORPHA:215 Congenital Stationary Night Blindness CACNA1F Cacna1f hom early 26.055 HP:0007703,HP:0030329,HP:0030639,HP:0030638 MP:0001333 ORPHA:215 Congenital Stationary Night Blindness CACNA2D4 Cacna2d4 hom early 44.8 HP:0007703,HP:0030329,HP:0030639,HP:0030638 MP:0001325,MP:0010097 ORPHA:216866 Classic Pantothenate Kinase-Associated Neurodegeneration PANK2 Pank2 hom early 23.96 HP:0000543,HP:0007018,HP:0002015 MP:0020421,MP:0004738 ORPHA:216873 Atypical Pantothenate Kinase-Associated Neurodegeneration PANK2 Pank2 hom early 43.36 HP:0100710,HP:0000648,HP:0000716,HP:0000737,HP:0000722,HP:0002015,HP:0000712,HP:0008760 MP:0020421,MP:0004738 ORPHA:217012 Spinocerebellar Ataxia Type 31 BEAN1 Bean1 hom early 45.27 HP:0002066 MP:0001406 ORPHA:217335 Rin2 Syndrome RIN2 Rin2 hom early 29.465 HP:0100543 MP:0001417 ORPHA:2189 Hydrolethalus HYLS1 Hyls1 het early 20.23 HP:0001162,HP:0002983 MP:0004357 ORPHA:2189 Hydrolethalus HYLS1 Hyls1 hom embryo 14.935 HP:0002323 MP:0003984,MP:0001700,MP:0001697 ORPHA:2203 Hyperlysinemia AASS Aass hom early 11.28 HP:0012403,HP:0003268,HP:0003297,HP:0003131 MP:0011874 ORPHA:220386 Semilobar Holoprosencephaly SHH Shh het early 22.555 HP:0001508,HP:0002451 MP:0003961,MP:0001513,MP:0001488 ORPHA:220386 Semilobar Holoprosencephaly DLL1 Dll1 het early 39.04 HP:0002871,HP:0002451,HP:0002540,HP:0005968,HP:0000716,HP:0000737,HP:0002013,HP:0002020,HP:0007018,HP:0002015,HP:0002019,HP:0001254,HP:0011951,HP:0001508,HP:0002793,HP:0006528 MP:0001362,MP:0002337,MP:0002757,MP:0012311,MP:0005586,MP:0001262,MP:0002862,MP:0001399,MP:0005534 ORPHA:220386 Semilobar Holoprosencephaly NODAL Nodal het early 21.415 HP:0002451 MP:0001486 ORPHA:220386 Semilobar Holoprosencephaly FGFR1 Fgfr1 hom embryo 16.58 HP:0001510,HP:0045005,HP:0004322 MP:0001697,MP:0003984 ORPHA:220386 Semilobar Holoprosencephaly SHH Shh het early 14.335 HP:0001508,HP:0001371 MP:0003961,MP:0010024 ORPHA:220386 Semilobar Holoprosencephaly NODAL Nodal het early 28.815 HP:0002540,HP:0001254,HP:0031860 MP:0001402,MP:0005542 ORPHA:220393 Diffuse Cutaneous Systemic Sclerosis CCR6 Ccr6 hom early 25.865 HP:0100585,HP:0001635,HP:0002015,HP:0002092,HP:0100735 MP:0001399,MP:0005333,MP:0010506 ORPHA:220393 Diffuse Cutaneous Systemic Sclerosis CAV1 Cav1 hom early 22.965 HP:0001635,HP:0100585,HP:0002092,HP:0100735 MP:0005140,MP:0002626 ORPHA:220402 Limited Cutaneous Systemic Sclerosis CCR6 Ccr6 hom early 27.69 HP:0100579,HP:0002092,HP:0100585,HP:0002015 MP:0001399,MP:0005333,MP:0010506 ORPHA:220402 Limited Cutaneous Systemic Sclerosis KIAA0319L AU040320 hom early 25.835 HP:0009473,HP:0008366,HP:0002015 MP:0001399,MP:0000063 ORPHA:220402 Limited Cutaneous Systemic Sclerosis KIAA0319L AU040320 hom late 28.86 HP:0008366,HP:0001053,HP:0001000,HP:0002015,HP:0009473 MP:0001399,MP:0010024,MP:0002075 ORPHA:220402 Limited Cutaneous Systemic Sclerosis CAV1 Cav1 hom early 22.46 HP:0002092,HP:0100585,HP:0100579 MP:0005140,MP:0002626 ORPHA:220493 Joubert Syndrome With Ocular Defect MKS1 Mks1 het early 10.5 HP:0002553 MP:0000579 ORPHA:220493 Joubert Syndrome With Ocular Defect INPP5E Inpp5e hom embryo 50.945 HP:0002084,HP:0001320,HP:0000238,HP:0001161,HP:0001829,HP:0002419 MP:0000562,MP:0000897,MP:0001697,MP:0003720,MP:0000841,MP:0002109 ORPHA:220497 Joubert Syndrome With Renal Defect NPHP1 Nphp1 hom early 9.34 HP:0000864 MP:0001147 ORPHA:220497 Joubert Syndrome With Renal Defect TMEM237 Tmem237 het early 21.49 HP:0001161,HP:0000864,HP:0002553 MP:0001147,MP:0002768,MP:0000627,MP:0000639,MP:0004357 ORPHA:2209 Maternal Phenylketonuria PAH Pah het early 18.45 HP:0030084,HP:0001156,HP:0009611 MP:0000157 ORPHA:2209 Maternal Phenylketonuria PAH Pah hom early 18.005 HP:0030084,HP:0001156,HP:0009611 MP:0000157 ORPHA:221008 Rothmund-Thomson Syndrome Type 1 ANAPC1 Anapc1 het early 16.93 HP:0003761 MP:0002968 ORPHA:221008 Rothmund-Thomson Syndrome Type 1 ANAPC1 Anapc1 het late 32.675 HP:0001118,HP:0000519 MP:0001303 ORPHA:221016 Rothmund-Thomson Syndrome Type 2 RECQL4 Recql4 het early 17.845 HP:0008070,HP:0200102,HP:0007418,HP:0100840 MP:0000367 ORPHA:221061 Familial Cerebral Cavernous Malformation KRIT1 Krit1 het early 18.045 HP:0007872,HP:0011513,HP:0030430 MP:0001333 ORPHA:221139 Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies KNSTRN Knstrn hom early 37.505 HP:0001251,HP:0025540,HP:0010976,HP:0005407,HP:0040218,HP:0002080 MP:0002590,MP:0005561,MP:0003179,MP:0002875,MP:0000745,MP:0000208 ORPHA:2228 Hypodontia-Dysplasia Of Nails Syndrome MSX1 Msx1 hom embryo 36.275 HP:0000684,HP:0006482,HP:0000698,HP:0000164,HP:0006349,HP:0000232,HP:0000668 MP:0000111 ORPHA:2229 Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome LMNA Lmna het early 31.935 HP:0100362 MP:0002764 ORPHA:2250 Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome SMCHD1 Smchd1 hom early 14 HP:0000176,HP:0000193,HP:0000175 MP:0000470 ORPHA:225154 Familial Infantile Bilateral Striatal Necrosis NUP62 Nup62 het early 25.41 HP:0000648 MP:0003733,MP:0011965 ORPHA:2253 Foveal Hypoplasia-Presenile Cataract Syndrome PAX6 Pax6 het early 42.55 HP:0000518 MP:0001314,MP:0005542 ORPHA:226307 Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function HESX1 Hesx1 hom embryo 34.775 HP:0000609,HP:0000158,HP:0011800 MP:0011495,MP:0001293,MP:0000111 ORPHA:226316 Genetic Transient Congenital Hypothyroidism DUOX2 Duox2 hom early 33.395 HP:0025484,HP:0006579 MP:0000601,MP:0000691,MP:0005553,MP:0000194,MP:0005178,MP:0005568,MP:0001556,MP:0000598,MP:0000689,MP:0003402,MP:0000692,MP:0002965 ORPHA:2268 Icf Syndrome HELLS Hells hom early 31.19 HP:0001903,HP:0001888,HP:0001874 MP:0008078,MP:0000223 ORPHA:2268 Icf Syndrome ZBTB24 Zbtb24 het early 33.065 HP:0001903,HP:0001888,HP:0001874 MP:0010068 ORPHA:2268 Icf Syndrome DNMT3B Dnmt3b hom embryo 28.815 HP:0004322,HP:0002024,HP:0010808,HP:0000158,HP:0001537 MP:0000111,MP:0003231,MP:0003984,MP:0001711 ORPHA:228302 Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form CPT2 Cpt2 het early 22.025 HP:0045045,HP:0003455,HP:0003236 MP:0001566 ORPHA:228305 Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form CPT2 Cpt2 het early 21.71 HP:0045045,HP:0008315,HP:0011936,HP:0003236 MP:0001566 ORPHA:228308 Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form CPT2 Cpt2 het early 20.84 HP:0003236,HP:0045045,HP:0003077,HP:0001987,HP:0011936,HP:0008315 MP:0001566 ORPHA:228402 2Q23.1 Microdeletion Syndrome MBD5 Mbd5 het early 40.135 HP:0010804,HP:0001251,HP:0001852,HP:0001385,HP:0000232,HP:0004279,HP:0004209 MP:0001402,MP:0003769,MP:0002764 ORPHA:228426 Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency ITCH Itch het early 19.615 HP:0001971,HP:0001876,HP:0001904,HP:0001433 MP:0002590 ORPHA:228426 Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency ITCH Itch hom early 41.13 HP:0006554,HP:0001876,HP:0001531,HP:0030151,HP:0001409,HP:0001971,HP:0012115,HP:0001904,HP:0001433,HP:0002242,HP:0001394,HP:0012385,HP:0100651 MP:0000691,MP:0000063,MP:0004952,MP:0002833,MP:0010025,MP:0003068,MP:0013278,MP:0000467,MP:0003960,MP:0009342 ORPHA:230839 Classical-Like Ehlers-Danlos Syndrome Type 1 TNXB Tnxb hom early 20.665 HP:0001634 MP:0000274 ORPHA:230851 Cardiac-Valvular Ehlers-Danlos Syndrome COL1A2 Col1a2 hom early 36.15 HP:0001822,HP:0000023,HP:0001654,HP:0001852,HP:0031610,HP:0100807,HP:0001848,HP:0006109,HP:0001634,HP:0006201,HP:0002857,HP:0001075,HP:0001631,HP:0001712,HP:0001382 MP:0000062,MP:0000691,MP:0000274,MP:0000558,MP:0002833,MP:0010025,MP:0000559,MP:0002753 ORPHA:231160 Familial Cerebral Saccular Aneurysm TGFBR3 Tgfbr3 hom embryo 28.55 HP:0002170,HP:0000822,HP:0002326,HP:0002138 MP:0001914 ORPHA:231169 Usher Syndrome Type 1 MYO7A Myo7a hom early 29.02 HP:0001251,HP:0000682 MP:0003313,MP:0010024 ORPHA:231169 Usher Syndrome Type 1 USH1C Ush1c hom early 27.855 HP:0001251,HP:0000682 MP:0001523,MP:0010025 ORPHA:231169 Usher Syndrome Type 1 MYO7A Myo7a hom early 27.565 HP:0001251 MP:0001523 ORPHA:231169 Usher Syndrome Type 1 CIB2 Cib2 hom early 27.885 HP:0000375,HP:0000407,HP:0001251 MP:0000745,MP:0004738,MP:0002102 ORPHA:231169 Usher Syndrome Type 1 CDH23 Cdh23 hom early 30.87 HP:0001251,HP:0000682 MP:0001406,MP:0001523,MP:0010025 ORPHA:231178 Usher Syndrome Type 2 MYO7A Myo7a hom early 25.835 HP:0001251,HP:0000682 MP:0003313,MP:0010024 ORPHA:231178 Usher Syndrome Type 2 MYO7A Myo7a hom early 24.495 HP:0001251 MP:0001523 ORPHA:231178 Usher Syndrome Type 2 ADGRV1 Adgrv1 hom early 18.745 HP:0000407 MP:0004738 ORPHA:231183 Usher Syndrome Type 3 CLRN1 Clrn1 hom early 21.95 HP:0000375,HP:0000407 MP:0004738 ORPHA:2314 Autosomal Dominant Hyper-Ige Syndrome IL6ST Il6st het early 14.355 HP:0001880 MP:0005641 ORPHA:2318 Joubert Syndrome With Oculorenal Defect TMEM237 Tmem237 het early 33.285 HP:0000556,HP:0002553,HP:0001161,HP:0001829,HP:0000567,HP:0000864 MP:0001147,MP:0002768,MP:0000627,MP:0001325,MP:0004357,MP:0000639 ORPHA:2318 Joubert Syndrome With Oculorenal Defect CEP290 Cep290 hom embryo 30.95 HP:0004422 MP:0011495 ORPHA:2318 Joubert Syndrome With Oculorenal Defect ZNF423 Zfp423 het early 29.665 HP:0001251,HP:0000612,HP:0000567 MP:0001289,MP:0001402 ORPHA:2323 Sanjad-Sakati Syndrome TBCE Tbce het early 30.92 HP:0000483,HP:0007957 MP:0001304,MP:0001303 ORPHA:233 Duane Retraction Syndrome CHN1 Chn1 hom early 11.595 HP:0012385 MP:0010025 ORPHA:2332 Kbg Syndrome ANKRD11 Ankrd11 het early 19.635 HP:0002948 MP:0000063 ORPHA:2332 Kbg Syndrome ANKRD11 Ankrd11 het early 30.85 HP:0002353,HP:0000400,HP:0008513 MP:0004738 ORPHA:2334 Autosomal Dominant Keratitis PAX6 Pax6 het early 72.93 HP:0007750,HP:0000518,HP:0000491,HP:0007633,HP:0025348,HP:0000482,HP:0007990,HP:0001104,HP:0007759,HP:0000526,HP:0011496,HP:0032107 MP:0001293,MP:0001297,MP:0001314,MP:0005542 ORPHA:2334 Autosomal Dominant Keratitis PAX6 Pax6 het embryo 47.34 HP:0007750,HP:0007633,HP:0007990,HP:0001104,HP:0000526 MP:0001297 ORPHA:2334 Autosomal Dominant Keratitis PAX6 Pax6 hom embryo 39.35 HP:0007750,HP:0007633,HP:0007990,HP:0001104,HP:0000526 MP:0001293 ORPHA:234 Dubin-Johnson Syndrome ABCC2 Abcc2 hom early 54.62 HP:0002908,HP:0002240,HP:0012086 MP:0005343,MP:0002941,MP:0005178,MP:0001556,MP:0005344,MP:0003917 ORPHA:2345 Isolated Klippel-Feil Syndrome GDF6 Gdf6 het early 31.805 HP:0003043,HP:0002414,HP:0001291 MP:0008259,MP:0001891,MP:0002110 ORPHA:2348 Familial Partial Lipodystrophy, Dunnigan Type LMNA Lmna het early 36.52 HP:0000855,HP:0000819 MP:0005292 ORPHA:235 Dubowitz Syndrome NSUN2 Nsun2 het early 22.775 HP:0007018 MP:0001413 ORPHA:235 Dubowitz Syndrome NSUN2 Nsun2 hom early 40.935 HP:0000684,HP:0009601,HP:0000518,HP:0001770,HP:0001852,HP:0009602,HP:0001363,HP:0001840,HP:0000347,HP:0000164,HP:0000176,HP:0200055,HP:0001773,HP:0000154,HP:0000218,HP:0004209,HP:0011304,HP:0000270,HP:0001156 MP:0001312,MP:0002932,MP:0002100,MP:0005296 ORPHA:2363 Lacrimoauriculodentodigital Syndrome FGF10 Fgf10 het early 39.595 HP:0007656,HP:0001092,HP:0011487,HP:0000682,HP:0007892,HP:0002015,HP:0001096,HP:0011481,HP:0001097,HP:0007925,HP:0000495,HP:0011482,HP:0011496,HP:0006297,HP:0012804,HP:0032107,HP:0000508 MP:0020870,MP:0001312,MP:0001314,MP:0001303,MP:0005102,MP:0001304,MP:0005287,MP:0001307,MP:0010024,MP:0004222,MP:0006241 ORPHA:2379 Early-Onset Parkinsonism-Intellectual Disability Syndrome RAB39B Rab39b hom late 32.075 HP:0002063,HP:0002396 MP:0000745 ORPHA:2382 Lennox-Gastaut Syndrome CACNA1A Cacna1a het early 34.355 HP:0000752,HP:0000718 MP:0020421 ORPHA:238446 15Q11Q13 Microduplication Syndrome UBE3A Ube3a het early 43.125 HP:0007018,HP:0001251,HP:0000722 MP:0001402,MP:0011940 ORPHA:238446 15Q11Q13 Microduplication Syndrome UBE3A Ube3a hom early 58.665 HP:0007018,HP:0001251,HP:0000722 MP:0011940,MP:0002757,MP:0001402,MP:0001399,MP:0001417 ORPHA:238455 Infantile Dystonia-Parkinsonism SLC6A3 Slc6a3 het early 19.845 HP:0004354 MP:0005633 ORPHA:238722 Familial Congenital Mirror Movements DNAL4 Dnal4 het early 36.515 HP:0007010,HP:0100021,HP:0002312 MP:0000745 ORPHA:2388 Choreoacanthocytosis VPS13A Vps13a hom early 13.825 HP:0030272,HP:0001744,HP:0001927 MP:0013764,MP:0008124 ORPHA:239 Dyggve-Melchior-Clausen Disease DYM Dym hom early 36.515 HP:0006633,HP:0002812,HP:0008905,HP:0008786,HP:0003311,HP:0003066,HP:0003183,HP:0000946,HP:0003272,HP:0003090,HP:0001377,HP:0002656,HP:0100255,HP:0040163,HP:0003368,HP:0002857,HP:0003026,HP:0003028,HP:0004242,HP:0003274,HP:0006429 MP:0002932,MP:0002764 ORPHA:2398 Multiple Symmetric Lipomatosis MFN2 Mfn2 het early 47.57 HP:0001288 MP:0001406 ORPHA:240071 Classic Progressive Supranuclear Palsy Syndrome MAPT Mapt hom early 30.96 HP:0007086,HP:0001268,HP:0002068,HP:0100710 MP:0011941,MP:0001417 ORPHA:240085 Progressive Supranuclear Palsy-Parkinsonism Syndrome MAPT Mapt hom early 38.2 HP:0001268,HP:0002354,HP:0002068,HP:0000716 MP:0011941,MP:0001417 ORPHA:240094 Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome MAPT Mapt hom early 29.1 HP:0000726,HP:0002068 MP:0011941,MP:0001417 ORPHA:240103 Progressive Supranuclear Palsy-Corticobasal Syndrome MAPT Mapt hom early 34.115 HP:0001268,HP:0002354,HP:0002015 MP:0011941,MP:0001417 ORPHA:240112 Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome MAPT Mapt hom early 43.34 HP:0002549,HP:0001268,HP:0002015 MP:0011941,MP:0001417 ORPHA:242 46,Xy Complete Gonadal Dysgenesis NR0B1 Nr0b1 hem early 29.975 HP:0000037,HP:0000044,HP:0008715,HP:0000147 MP:0002160 ORPHA:243 46,Xx Gonadal Dysgenesis FSHR Fshr hom early 40.455 HP:0000938,HP:0005625,HP:0004349 MP:0000063,MP:0010124 ORPHA:243 46,Xx Gonadal Dysgenesis SPIDR Spidr hom early 47.54 HP:0000938,HP:0010464,HP:0008209,HP:0000144,HP:0000869,HP:0004349,HP:0000786,HP:0005625 MP:0001925,MP:0000063,MP:0001926,MP:0010124 ORPHA:243 46,Xx Gonadal Dysgenesis MRPS22 Mrps22 het early 40.015 HP:0000938,HP:0005625,HP:0004349 MP:0000063,MP:0010124 ORPHA:243 46,Xx Gonadal Dysgenesis BNC1 Bnc1 hom early 40.085 HP:0000938,HP:0010464,HP:0008209,HP:0000144,HP:0000869,HP:0004349,HP:0000786,HP:0005625 MP:0010123,MP:0001926 ORPHA:243 46,Xx Gonadal Dysgenesis BNC1 Bnc1 hom late 39.145 HP:0010464,HP:0008209,HP:0002225,HP:0000837,HP:0000144,HP:0000869,HP:0000786,HP:0000133,HP:0008214,HP:0009888,HP:0000823,HP:0000062,HP:0008684 MP:0001147,MP:0000367,MP:0002059,MP:0002075 ORPHA:244 Primary Ciliary Dyskinesia GAS2L2 Gas2l2 hom early 48.4 HP:0003251,HP:0008222,HP:0000405,HP:0012206,HP:0000365 MP:0001925,MP:0004738,MP:0001926 ORPHA:244 Primary Ciliary Dyskinesia DNAAF4 Dnaaf4 het early 19.16 HP:0000510 MP:0006243 ORPHA:244 Primary Ciliary Dyskinesia DNAL1 Dnal1 het early 39.425 HP:0005425,HP:0025177,HP:0011617,HP:0002566,HP:0011947,HP:0100750,HP:0001746,HP:0002110,HP:0010772,HP:0001748 MP:0001175,MP:0002581,MP:0005012 ORPHA:244 Primary Ciliary Dyskinesia MCIDAS Mcidas hom early 48.94 HP:0003251,HP:0008222,HP:0001746,HP:0001748,HP:0000405,HP:0012206,HP:0000365 MP:0001926,MP:0001925,MP:0004738,MP:0000689,MP:0000218 ORPHA:244 Primary Ciliary Dyskinesia LRRC56 Lrrc56 hom early 50.81 HP:0003251,HP:0005425,HP:0011539,HP:0011535,HP:0025177,HP:0011617,HP:0008222,HP:0011947,HP:0100750,HP:0001746,HP:0001696,HP:0002110,HP:0010772,HP:0001627,HP:0001669,HP:0001748,HP:0001719,HP:0012206 MP:0001175,MP:0000702,MP:0001925,MP:0006065 ORPHA:244 Primary Ciliary Dyskinesia ODAD2 Odad2 hom early 43.33 HP:0003251,HP:0008222,HP:0001746,HP:0001748,HP:0012206 MP:0000692,MP:0001925 ORPHA:244 Primary Ciliary Dyskinesia DRC1 Drc1 hom early 40.82 HP:0003251,HP:0012206,HP:0008222 MP:0001925 ORPHA:244 Primary Ciliary Dyskinesia CCNO Ccno het early 34.91 HP:0001746,HP:0001748 MP:0000691,MP:0000689 ORPHA:244 Primary Ciliary Dyskinesia CCDC40 Ccdc40 hom early 42.06 HP:0003251,HP:0008222,HP:0001746,HP:0001748,HP:0012206 MP:0001925,MP:0000218 ORPHA:2440 Isolated Split Hand-Split Foot Malformation EPS15L1 Eps15l1 hom early 34.35 HP:0000526 MP:0001319 ORPHA:244242 Hellp Syndrome CFH Cfh hom early 31.79 HP:0001878,HP:0025547,HP:0001937,HP:0001873 MP:0005561 ORPHA:244242 Hellp Syndrome CFI Cfi hom early 41.715 HP:0001878,HP:0025547,HP:0001937,HP:0001873 MP:0003179 ORPHA:2461 Marden-Walker Syndrome PIEZO2 Piezo2 het early 29.335 HP:0007018 MP:0002574 ORPHA:2461 Marden-Walker Syndrome PIEZO2 Piezo2 hom embryo 17.19 HP:0001511 MP:0001697 ORPHA:247262 Hyperphosphatasia-Intellectual Disability Syndrome PIGL Pigl het early 15.15 HP:0002558,HP:0002553 MP:0002098 ORPHA:247262 Hyperphosphatasia-Intellectual Disability Syndrome PIGO Pigo het early 14.595 HP:0001009 MP:0003928 ORPHA:247353 Generalized Pustular Psoriasis AP1S3 Ap1s3 hom early 20.205 HP:0001635 MP:0003233 ORPHA:247353 Generalized Pustular Psoriasis IL36RN Il36rn hom early 13.1 HP:0000083 MP:0002135,MP:0002989 ORPHA:248 Autosomal Recessive Hypohidrotic Ectodermal Dysplasia WNT10A Wnt10a hom early 43.33 HP:0001596,HP:0001231,HP:0001595,HP:0002213,HP:0008388 MP:0000367,MP:0002075 ORPHA:2495 Meningioma SUFU Sufu het early 11.215 HP:0100648 MP:0000470 ORPHA:2495 Meningioma SUFU Sufu hom embryo 29.68 HP:0000238 MP:0003864,MP:0003232,MP:0006108,MP:0003720 ORPHA:2495 Meningioma SMO Smo het early 21.01 HP:0001279,HP:0001342 MP:0005333,MP:0010506,MP:0003928 ORPHA:2495 Meningioma SMARCE1 Smarce1 het early 21.695 HP:0001251,HP:0002355 MP:0001402 ORPHA:2495 Meningioma TRAF7 Traf7 het early 21.08 HP:0001085 MP:0001325 ORPHA:2495 Meningioma BAP1 Bap1 het early 17.64 HP:0001085,HP:0000360,HP:0010628 MP:0004738 ORPHA:2501 Metaphyseal Chondrodysplasia, Spahr Type MMP13 Mmp13 hom early 54.42 HP:0006409,HP:0006487,HP:0100255,HP:0005871,HP:0001385,HP:0005930,HP:0000944,HP:0006385,HP:0002970 MP:0002764 ORPHA:250923 Isolated Aniridia PAX6 Pax6 het early 40.41 HP:0000526,HP:0000518,HP:0008059,HP:0000659 MP:0001293,MP:0001297,MP:0001314,MP:0005542 ORPHA:250923 Isolated Aniridia PAX6 Pax6 het embryo 34.39 HP:0000526,HP:0008059 MP:0001297 ORPHA:250923 Isolated Aniridia PAX6 Pax6 hom embryo 31.905 HP:0000526,HP:0008059 MP:0001293 ORPHA:250984 Autosomal Recessive Stickler Syndrome COL9A2 Col9a2 hom early 43.27 HP:0002656,HP:0000347,HP:0000407,HP:0002857,HP:0005930 MP:0004509,MP:0000552,MP:0005296,MP:0000558,MP:0005108,MP:0004738,MP:0002102,MP:0002764,MP:0000559,MP:0002932 ORPHA:250984 Autosomal Recessive Stickler Syndrome COL9A3 Col9a3 hom early 20.35 HP:0000407 MP:0004738 ORPHA:2510 Micro Syndrome RAB18 Rab18 het early 24.155 HP:0007703,HP:0000648,HP:0000480 MP:0006243 ORPHA:2510 Micro Syndrome RAB3GAP2 Rab3gap2 hom early 41.935 HP:0007703,HP:0000648,HP:0000431,HP:0000480,HP:0003196 MP:0008259,MP:0000443 ORPHA:2510 Micro Syndrome TBC1D20 Tbc1d20 hom early 15.395 HP:0000028 MP:0001925 ORPHA:251019 2Q32Q33 Microdeletion Syndrome SATB2 Satb2 het early 16.555 HP:0008734 MP:0001120 ORPHA:251028 Satb2-Associated Syndrome Due To A Chromosomal Rearrangement SATB2 Satb2 het early 21.92 HP:0008734,HP:0000028,HP:0000054,HP:0003241 MP:0001120 ORPHA:2512 Autosomal Recessive Primary Microcephaly CENPJ Cenpj hom early 32.6 HP:0003103 MP:0010124 ORPHA:2512 Autosomal Recessive Primary Microcephaly CDK5RAP2 Cdk5rap2 hom early 33.505 HP:0003103 MP:0010124 ORPHA:2512 Autosomal Recessive Primary Microcephaly PYCR2 Pycr2 hom early 31.755 HP:0003103 MP:0000063 ORPHA:2512 Autosomal Recessive Primary Microcephaly WARS1 Wars1 het late 33.885 HP:0000076,HP:0000122 MP:0002135,MP:0008528 ORPHA:2512 Autosomal Recessive Primary Microcephaly TRAPPC10 Trappc10 hom early 34.115 HP:0003103 MP:0010124 ORPHA:2512 Autosomal Recessive Primary Microcephaly CEP135 Cep135 het early 33.17 HP:0003103 MP:0000063 ORPHA:2512 Autosomal Recessive Primary Microcephaly WDR62 Wdr62 hom early 21.54 HP:0000076,HP:0000122 MP:0002989 ORPHA:251510 46,Xy Partial Gonadal Dysgenesis MAP3K1 Map3k1 het early 22.095 HP:0000939 MP:0010123 ORPHA:251510 46,Xy Partial Gonadal Dysgenesis NR0B1 Nr0b1 hem early 36.7 HP:0008726,HP:0008736,HP:0012870,HP:0000054,HP:0000149,HP:0000812,HP:0008665,HP:0010464,HP:0000047,HP:0000028,HP:0000939,HP:0000027,HP:0000133,HP:0000045,HP:0000062,HP:0000142,HP:0008730,HP:0000058,HP:0000815,HP:0000030,HP:0012244,HP:0008734,HP:0000150,HP:0100779 MP:0010123,MP:0002160 ORPHA:254343 Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome MTPAP Mtpap het early 32.215 HP:0002073,HP:0007240,HP:0000648 MP:0001392,MP:0001102 ORPHA:254525 Temple Syndrome Due To Paternal 14Q32.2 Microdeletion DLK1 Dlk1 hom early 17.855 HP:0001513 MP:0003961 ORPHA:254528 Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion DLK1 Dlk1 hom early 19.415 HP:0001539,HP:0000023,HP:0001371,HP:0012385,HP:0001537,HP:0012785,HP:0001239 MP:0010024 ORPHA:254531 Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation DLK1 Dlk1 hom early 30.635 HP:0001513,HP:0004904 MP:0003961,MP:0005560 ORPHA:254534 Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation DLK1 Dlk1 hom early 21.725 HP:0001539,HP:0001537,HP:0001518,HP:0001520 MP:0003961,MP:0010024 ORPHA:254704 Genetic Hyperferritinemia Without Iron Overload FTL Ftl1 hom late 58.1 HP:0003281,HP:0040130,HP:0040135,HP:0012465 MP:0004152 ORPHA:254892 Autosomal Dominant Progressive External Ophthalmoplegia SLC25A4 Slc25a4 hom early 41.1 HP:0000819,HP:0000836,HP:0003236,HP:0001644,HP:0000939,HP:0001952,HP:0001712,HP:0000821,HP:0000853 MP:0002968,MP:0003020,MP:0005565,MP:0000194,MP:0002079,MP:0002833,MP:0004613,MP:0005292 ORPHA:254913 Isolated Atp Synthase Deficiency ATPAF2 Atpaf2 het early 34.66 HP:0001254,HP:0001251 MP:0001402 ORPHA:254913 Isolated Atp Synthase Deficiency ATP5MK Atp5mk hom early 41.74 HP:0003348,HP:0001251,HP:0001987 MP:0005565,MP:0005343,MP:0002941,MP:0001566,MP:0005567,MP:0008806,MP:0005419,MP:0001406 ORPHA:255138 Pyruvate Dehydrogenase E1-Beta Deficiency PDHB Pdhb hom embryo 32.575 HP:0001511 MP:0003984,MP:0001697 ORPHA:2554 Ear-Patella-Short Stature Syndrome ORC1 Orc1 het early 21.285 HP:0005692,HP:0001508,HP:0100490,HP:0001363 MP:0000062,MP:0003960,MP:0010123,MP:0010025 ORPHA:2576 Mulibrey Nanism TRIM37 Trim37 hom early 17.605 HP:0004326 MP:0003961 ORPHA:2584 Classic Mycosis Fungoides TNFRSF1B Tnfrsf1b hom early 33.22 HP:0001744,HP:0004332 MP:0005014,MP:0005018 ORPHA:2584 Classic Mycosis Fungoides CD28 Cd28 hom early 35.125 HP:0001744,HP:0004332 MP:0005018,MP:0000218,MP:0008074 ORPHA:2591 Infantile Myofibromatosis PDGFRB Pdgfrb het early 18.8 HP:0002894,HP:0003072 MP:0001552,MP:0002059 ORPHA:2591 Infantile Myofibromatosis NOTCH3 Notch3 hom early 24.31 HP:0002894,HP:0000077 MP:0003068,MP:0004952,MP:0003402,MP:0003917 ORPHA:2598 Mitochondrial Myopathy And Sideroblastic Anemia PUS1 Pus1 hom late 33.565 HP:0009743 MP:0005176,MP:0005287,MP:0001340 ORPHA:2609 Isolated Complex I Deficiency NDUFS3 Ndufs3 het early 38.06 HP:0003542,HP:0002240,HP:0000819,HP:0001943,HP:0001639,HP:0001508 MP:0005633,MP:0000186,MP:0000194,MP:0005179,MP:0002833,MP:0001566,MP:0005419,MP:0005559,MP:0003960 ORPHA:2609 Isolated Complex I Deficiency NDUFS1 Ndufs1 het early 35.125 HP:0003542,HP:0001254,HP:0001251 MP:0005633,MP:0011886,MP:0002757,MP:0005553,MP:0000194,MP:0001402,MP:0001566 ORPHA:2609 Isolated Complex I Deficiency NDUFS7 Ndufs7 het early 22.085 HP:0000543,HP:0001138 MP:0011965 ORPHA:2609 Isolated Complex I Deficiency NDUFS7 Ndufs7 het embryo 29.36 HP:0001511 MP:0003984 ORPHA:2609 Isolated Complex I Deficiency NDUFS7 Ndufs7 hom embryo 29.905 HP:0001511 MP:0001697,MP:0003984 ORPHA:2609 Isolated Complex I Deficiency NDUFB9 Ndufb9 het early 27.62 HP:0003542,HP:0000819,HP:0000114,HP:0001943 MP:0002135,MP:0002079,MP:0002966 ORPHA:2609 Isolated Complex I Deficiency TIMMDC1 Timmdc1 het early 17.995 HP:0003542 MP:0002941 ORPHA:2609 Isolated Complex I Deficiency NDUFS2 Ndufs2 het embryo 17.895 HP:0001511 MP:0001697 ORPHA:2609 Isolated Complex I Deficiency FOXRED1 Foxred1 het early 19.04 HP:0002240 MP:0004952 ORPHA:2609 Isolated Complex I Deficiency NDUFA6 Ndufa6 het early 19.8 HP:0001639 MP:0005333,MP:0010506,MP:0002953 ORPHA:2609 Isolated Complex I Deficiency NDUFAF8 Ndufaf8 het embryo 30.065 HP:0001511 MP:0001697,MP:0003984 ORPHA:2609 Isolated Complex I Deficiency NDUFAF8 Ndufaf8 hom embryo 31.21 HP:0001511,HP:0001639 MP:0000266,MP:0003984,MP:0001697 ORPHA:261183 15Q11.2 Microdeletion Syndrome TUBG1 Tubg1 het early 24.065 HP:0001251 MP:0001402 ORPHA:2612 Linear Nevus Sebaceus Syndrome NRAS Nras het early 15.395 HP:0002816 MP:0002764 ORPHA:261250 16Q24.3 Microdeletion Syndrome ANKRD11 Ankrd11 het early 17.975 HP:0000609 MP:0002792 ORPHA:261250 16Q24.3 Microdeletion Syndrome ANKRD11 Ankrd11 het early 20.01 HP:0000609,HP:0000365,HP:0000411 MP:0002699,MP:0004738 ORPHA:261279 17Q23.1Q23.2 Microdeletion Syndrome TBX4 Tbx4 hom embryo 18.77 HP:0001511 MP:0001697 ORPHA:2616 3M Syndrome CUL7 Cul7 het early 18.55 HP:0005692 MP:0000063 ORPHA:2616 3M Syndrome CCDC8 Ccdc8 het early 12.66 HP:0000682 MP:0010024 ORPHA:261652 Kleefstra Syndrome Due To A Point Mutation EHMT1 Ehmt1 het early 29.72 HP:0100716,HP:0001508,HP:0001520,HP:0000519 MP:0001314,MP:0001322,MP:0002797,MP:0001319,MP:0001363,MP:0003960 ORPHA:263297 Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency GYG1 Gyg1 het early 27.2 HP:0001714,HP:0001638,HP:0031319,HP:0005144 MP:0002953 ORPHA:263455 Congenital Hyperinsulinism Due To Hnf4A Deficiency HNF4A Hnf4a het early 25.75 HP:0004912,HP:0004359 MP:0005344,MP:0005178,MP:0001556 ORPHA:263455 Congenital Hyperinsulinism Due To Hnf4A Deficiency HNF4A Hnf4a het late 31.335 HP:0000842,HP:0004510,HP:0003162,HP:0003076,HP:0000825,HP:0001998,HP:0001985 MP:0005292,MP:0005355 ORPHA:263455 Congenital Hyperinsulinism Due To Hnf4A Deficiency HNF4A Hnf4a het middle 25.005 HP:0004324,HP:0001520 MP:0001262 ORPHA:263487 Cog5-Cdg COG5 Cog5 het early 38.88 HP:0002240,HP:0100490,HP:0001433,HP:0040019,HP:0002857,HP:0009473 MP:0000274,MP:0000689,MP:0000691,MP:0002110 ORPHA:2637 Microcephalic Osteodysplastic Primordial Dwarfism Type Ii PCNT Pcnt het early 18.995 HP:0000826,HP:0000055 MP:0001147,MP:0001146 ORPHA:2637 Microcephalic Osteodysplastic Primordial Dwarfism Type Ii PCNT Pcnt hom embryo 30.625 HP:0001511,HP:0003498 MP:0003984 ORPHA:2639 Fibular Aplasia-Complex Brachydactyly Syndrome GDF5 Gdf5 hom early 46.355 HP:0002818,HP:0001156,HP:0008368,HP:0002983,HP:0006492,HP:0001172,HP:0040071,HP:0002992,HP:0001376,HP:0005930,HP:0003272,HP:0005048,HP:0007598 MP:0000062,MP:0000572,MP:0000550,MP:0002110,MP:0000556 ORPHA:2639 Fibular Aplasia-Complex Brachydactyly Syndrome BMPR1B Bmpr1b hom early 27.595 HP:0002818,HP:0001156,HP:0008368,HP:0002983,HP:0006492,HP:0001172,HP:0040071,HP:0002992,HP:0005048,HP:0007598 MP:0000572 ORPHA:2645 Osteoglosphonic Dysplasia FGFR1 Fgfr1 hom embryo 18.66 HP:0003510,HP:0008905 MP:0003984 ORPHA:264580 Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency PHKG2 Phkg2 het early 32.27 HP:0030272,HP:0001744,HP:0001903 MP:0002608,MP:0003131,MP:0005564 ORPHA:26793 Very Long Chain Acyl-Coa Dehydrogenase Deficiency ACADVL Acadvl hom early 34.695 HP:0001985 MP:0013278,MP:0005293 ORPHA:269 Facioscapulohumeral Dystrophy DNMT3B Dnmt3b hom embryo 20.33 HP:0100540 MP:0001785 ORPHA:269 Facioscapulohumeral Dystrophy SMCHD1 Smchd1 hom early 20.87 HP:0008046 MP:0006243 ORPHA:2704 Ochoa Syndrome HPSE2 Hpse2 het early 25.11 HP:0001959 MP:0001399 ORPHA:2707 Oculocerebrofacial Syndrome, Kaufman Type UBE3B Ube3b hom early 29.975 HP:0001508 MP:0001262 ORPHA:2707 Oculocerebrofacial Syndrome, Kaufman Type UBE3B Ube3b het early 44.15 HP:0001135,HP:0000648,HP:0000482,HP:0000587,HP:0001139 MP:0001312,MP:0011960,MP:0001303,MP:0001322,MP:0003733,MP:0001307,MP:0004222,MP:0011962 ORPHA:274 Bernard-Soulier Syndrome GP9 Gp9 hom early 55.44 HP:0011879,HP:0001902,HP:0040185,HP:0011871 MP:0002599,MP:0002606 ORPHA:274 Bernard-Soulier Syndrome GP1BB Gp1bb hom early 57.135 HP:0011879,HP:0001902,HP:0040185,HP:0000132,HP:0011871 MP:0002590,MP:0001147,MP:0003179,MP:0001146,MP:0002599 ORPHA:2745 Opitz Gbbb Syndrome MID1 Mid1 hem early 27.77 HP:0100879,HP:0000047,HP:0000079,HP:0000076,HP:0000126 MP:0002135,MP:0003604,MP:0003068 ORPHA:2745 Opitz Gbbb Syndrome MID1 Mid1 het early 26.025 HP:0001539,HP:0100879,HP:0000023,HP:0001629,HP:0000047,HP:0000776,HP:0000076,HP:0001627,HP:0002015,HP:0001631,HP:0001537,HP:0001655,HP:0000126 MP:0002833,MP:0010025,MP:0002989,MP:0002135,MP:0020421 ORPHA:2745 Opitz Gbbb Syndrome MID1 Mid1 hom early 11.945 HP:0100879 MP:0000691 ORPHA:2751 Orofaciodigital Syndrome Type 2 NEK1 Nek1 hom early 50.455 HP:0006101,HP:0010055,HP:0000347,HP:0005736,HP:0009776,HP:0010068,HP:0001162,HP:0010230,HP:0001841,HP:0040019,HP:0007768,HP:0005873,HP:0001161,HP:0004987,HP:0009826,HP:0010100,HP:0006042 MP:0002764,MP:0003731,MP:0011965,MP:0004509 ORPHA:2753 Orofaciodigital Syndrome Type 4 TCTN3 Tctn3 hom embryo 34.875 HP:0006101,HP:0100490,HP:0002983,HP:0001177,HP:0001162,HP:0001171,HP:0001511,HP:0005772,HP:0002970 MP:0000562,MP:0001697 ORPHA:2754 Orofaciodigital Syndrome Type 6 TCTN3 Tctn3 hom embryo 44.85 HP:0001159,HP:0100260,HP:0006145,HP:0100258,HP:0040019,HP:0001161,HP:0001829,HP:0001156 MP:0000562 ORPHA:2754 Orofaciodigital Syndrome Type 6 FAM149B1 Fam149b hom early 14.565 HP:0008689 MP:0001925 ORPHA:2754 Orofaciodigital Syndrome Type 6 TOPORS Topors hom early 17.68 HP:0000405,HP:0008689,HP:0000368 MP:0004738,MP:0001926 ORPHA:275864 Behavioral Variant Of Frontotemporal Dementia MAPT Mapt hom early 45.8 HP:0000723,HP:0030212,HP:0000711,HP:0000718,HP:0002145,HP:0000737,HP:0000719,HP:0000734,HP:0001268,HP:0002354,HP:0030213,HP:0000733 MP:0011941,MP:0001417 ORPHA:275872 Frontotemporal Dementia With Motor Neuron Disease C9orf72 C9orf72 hom early 11.995 HP:0008322 MP:0001147 ORPHA:275872 Frontotemporal Dementia With Motor Neuron Disease CHCHD10 Chchd10 hom early 13.8 HP:0008322 MP:0001147,MP:0001146 ORPHA:276152 Multiple Endocrine Neoplasia Type 4 CDKN1B Cdkn1b hom early 28.175 HP:0003072,HP:0012197,HP:0008283,HP:0100522,HP:0030445,HP:0012334,HP:0030688,HP:0003118,HP:0000825,HP:0012091,HP:0100634,HP:0100570 MP:0002968,MP:0008259,MP:0004952,MP:0013279,MP:0002644 ORPHA:276432 Ogden Syndrome NAA10 Naa10 hem early 38 HP:0000028,HP:0100840,HP:0002213 MP:0001147,MP:0001146,MP:0002075 ORPHA:276432 Ogden Syndrome NAA10 Naa10 hem late 35.235 HP:0001629,HP:0000028,HP:0002213,HP:0100840,HP:0002119 MP:0002834,MP:0002059,MP:0002997,MP:0002075,MP:0001891,MP:0000639 ORPHA:276432 Ogden Syndrome NAA10 Naa10 hem middle 31.07 HP:0100840,HP:0002213 MP:0002075 ORPHA:276432 Ogden Syndrome NAA10 Naa10 hom early 32.715 HP:0000028,HP:0000023,HP:0100840,HP:0002213 MP:0001120,MP:0002075,MP:0010025 ORPHA:276432 Ogden Syndrome NAA10 Naa10 hom late 23.7 HP:0000028,HP:0001629 MP:0000274,MP:0000266,MP:0001126 ORPHA:276432 Ogden Syndrome NAA10 Naa10 hom middle 30.995 HP:0100840,HP:0002213 MP:0002075 ORPHA:276435 Lower Motor Neuron Syndrome With Late-Adult Onset CHCHD10 Chchd10 hom early 23.665 HP:0003236 MP:0001566 ORPHA:276435 Lower Motor Neuron Syndrome With Late-Adult Onset CHCHD10 Chchd10 hom early 27.755 HP:0003236 MP:0005553,MP:0005565,MP:0005627 ORPHA:276575 Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency ABCC8 Abcc8 hom early 43.42 HP:0001520,HP:0000842,HP:0002173,HP:0003162,HP:0000825,HP:0100651,HP:0001985 MP:0003960,MP:0005293 ORPHA:276580 Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency KCNJ11 Kcnj11 hom early 48.175 HP:0009800,HP:0000842,HP:0002173,HP:0003162,HP:0000825,HP:0100651,HP:0004924,HP:0001985 MP:0013278,MP:0005293 ORPHA:276621 Sporadic Pheochromocytoma/Secreting Paraganglioma DNMT3A Dnmt3a het early 17.21 HP:0003072,HP:0001824 MP:0003961,MP:0005179,MP:0000186 ORPHA:276621 Sporadic Pheochromocytoma/Secreting Paraganglioma SDHB Sdhb het early 18.105 HP:0000093,HP:0003345,HP:0011979,HP:0003639,HP:0000790,HP:0000096 MP:0002135 ORPHA:2771 Bruck Syndrome FKBP10 Fkbp10 het early 35.835 HP:0002804,HP:0000939,HP:0002757,HP:0001387 MP:0002896 ORPHA:2771 Bruck Syndrome PLOD2 Plod2 het late 16.365 HP:0001059 MP:0005544 ORPHA:2789 Lateral Meningocele Syndrome NOTCH3 Notch3 hom early 22.565 HP:0001629 MP:0000274,MP:0000266,MP:0002833 ORPHA:280 Wolf-Hirschhorn Syndrome NELFA Nelfa het early 33.765 HP:0006655,HP:0008830,HP:0000047,HP:0000077,HP:0010109,HP:0001166,HP:0001654,HP:0009778,HP:0001177,HP:0001171,HP:0000902,HP:0005264,HP:0000079,HP:0003363,HP:0001671,HP:0001631 MP:0008528,MP:0000157,MP:0004952,MP:0002833,MP:0011874 ORPHA:2801 Juvenile Paget Disease TNFRSF11B Tnfrsf11b hom early 42.08 HP:0002757,HP:0000365,HP:0004437,HP:0000648,HP:0000939,HP:0002149,HP:0100670 MP:0002968,MP:0003795,MP:0000063,MP:0001566,MP:0004738,MP:0010124 ORPHA:280195 Septopreoptic Holoprosencephaly DLL1 Dll1 het early 37.26 HP:0100710,HP:0002015 MP:0001399,MP:0012311,MP:0001362 ORPHA:280200 Microform Holoprosencephaly DLL1 Dll1 het early 24.45 HP:0002099,HP:0009800 MP:0005586,MP:0002337,MP:0005560 ORPHA:280200 Microform Holoprosencephaly SUFU Sufu het early 26.12 HP:0000175,HP:0002247 MP:0000470 ORPHA:280200 Microform Holoprosencephaly SUFU Sufu hom embryo 39.1 HP:0001511,HP:0004322,HP:0001360 MP:0003232,MP:0006108,MP:0003864,MP:0001697,MP:0003720,MP:0003984 ORPHA:280200 Microform Holoprosencephaly FGFR1 Fgfr1 hom embryo 31.5 HP:0001511,HP:0004322 MP:0001697,MP:0003984 ORPHA:280200 Microform Holoprosencephaly SHH Shh het early 29.93 HP:0009800 MP:0005293 ORPHA:280200 Microform Holoprosencephaly NODAL Nodal het early 19.67 HP:0000612 MP:0005542 ORPHA:280365 Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy LMNA Lmna het early 35.815 HP:0000819,HP:0001870,HP:0000347,HP:0000855,HP:0009771,HP:0008968 MP:0005292,MP:0002764 ORPHA:280633 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome PIGN Pign het early 34.805 HP:0000072,HP:0000034,HP:0008676,HP:0002015,HP:0000126,HP:0001667 MP:0002135,MP:0000691,MP:0001148,MP:0002989,MP:0001399,MP:0001146 ORPHA:280633 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome PIGN Pign hom embryo 28.63 HP:0000269,HP:0010880 MP:0011495,MP:0001785 ORPHA:280763 Severe Intellectual Disability And Progressive Spastic Paraplegia AP4E1 Ap4e1 hom early 31.565 HP:0002515,HP:0002761,HP:0002355,HP:0025502 MP:0003960,MP:0000062,MP:0001402 ORPHA:280763 Severe Intellectual Disability And Progressive Spastic Paraplegia AP4E1 Ap4e1 hom early 33.51 HP:0002515,HP:0025502,HP:0002355,HP:0001332,HP:0000733 MP:0020870,MP:0002757,MP:0001488,MP:0001364,MP:0020420,MP:0001513,MP:0001399,MP:0003960 ORPHA:280763 Severe Intellectual Disability And Progressive Spastic Paraplegia AP4E1 Ap4e1 hom early 31.94 HP:0002515,HP:0002355,HP:0001332 MP:0001513,MP:0002757 ORPHA:280763 Severe Intellectual Disability And Progressive Spastic Paraplegia AP4E1 Ap4e1 het embryo 27.67 HP:0001332 MP:0001491 ORPHA:280763 Severe Intellectual Disability And Progressive Spastic Paraplegia AP4E1 Ap4e1 hom embryo 27.67 HP:0001332 MP:0001491 ORPHA:2822 Autosomal Recessive Spastic Paraplegia Type 11 SPG11 Spg11 hom early 31.5 HP:0000736,HP:0001278,HP:0000712,HP:0000726,HP:0001268,HP:0002354 MP:0005333,MP:0010506,MP:0001417 ORPHA:2828 Young-Onset Parkinson Disease VPS13C Vps13c hom late 38.4 HP:0012452,HP:0100710,HP:0000716,HP:0002067,HP:0000713,HP:0002141 MP:0020870,MP:0001402 ORPHA:2828 Young-Onset Parkinson Disease SYNJ1 Synj1 het early 41.79 HP:0001337,HP:0002063,HP:0002067,HP:0001332,HP:0001257 MP:0000745 ORPHA:2828 Young-Onset Parkinson Disease UCHL1 Uchl1 het early 37.96 HP:0012452,HP:0100710,HP:0001337,HP:0000713,HP:0001332 MP:0001399,MP:0001488 ORPHA:2828 Young-Onset Parkinson Disease SNCA Snca hom early 26.165 HP:0002141 MP:0001392 ORPHA:284339 Pontocerebellar Hypoplasia Type 7 TOE1 Toe1 het early 12.75 HP:0000054,HP:0030260,HP:0030261 MP:0011436 ORPHA:284417 Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form PSAT1 Psat1 het early 20.05 HP:0002154,HP:0012279 MP:0005632 ORPHA:2848 Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome PRG4 Prg4 hom early 33.085 HP:0100490,HP:0001225,HP:0005195,HP:0005086,HP:0003940 MP:0002932 ORPHA:2849 Perlman Syndrome DIS3L2 Dis3l2 het early 30.185 HP:0000098 MP:0001257 ORPHA:2850 Alopecia-Intellectual Disability Syndrome AHSG Ahsg hom early 38.195 HP:0001156,HP:0001371,HP:0001171,HP:0002353,HP:0000400,HP:0000365 MP:0000062,MP:0004738,MP:0002764 ORPHA:2850 Alopecia-Intellectual Disability Syndrome ITGB6 Itgb6 hom early 34.27 HP:0001171,HP:0001156 MP:0002110 ORPHA:288 Hereditary Elliptocytosis EPB41 Epb41 het early 45.025 HP:0001878,HP:0001923,HP:0001877,HP:0001744,HP:0004446,HP:0004445,HP:0004447,HP:0004804 MP:0005562,MP:0002591 ORPHA:288 Hereditary Elliptocytosis GYPC Gypc hom early 36.67 HP:0001878,HP:0001923,HP:0001877,HP:0001744,HP:0004446,HP:0004445,HP:0002904,HP:0004447,HP:0003265,HP:0004804 MP:0006352 ORPHA:288 Hereditary Elliptocytosis SPTB Sptb het early 50.795 HP:0001878,HP:0001923,HP:0001877,HP:0001744,HP:0004446,HP:0004445,HP:0004447,HP:0004804 MP:0003131,MP:0002591,MP:0005562 ORPHA:2884 Piebaldism SNAI2 Snai2 het embryo 34.635 HP:0000252 MP:0000433 ORPHA:2884 Piebaldism SNAI2 Snai2 hom early 53.465 HP:0005599,HP:0002227,HP:0002226,HP:0000664,HP:0007544,HP:0001053,HP:0002211,HP:0001100 MP:0000367,MP:0002075 ORPHA:2886 Tarp Syndrome RBM10 Rbm10 het early 22.34 HP:0001978,HP:0000028,HP:0000648,HP:0000085,HP:0000126 MP:0000691,MP:0002699,MP:0002989,MP:0000689,MP:0002135,MP:0009084 ORPHA:289 Ellis Van Creveld Syndrome EVC2 Evc2 hom early 45.77 HP:0000684,HP:0001629,HP:0001651,HP:0001654,HP:0000047,HP:0001696,HP:0000039,HP:0000028,HP:0011830,HP:0000164,HP:0002488,HP:0011065,HP:0000233,HP:0000190,HP:0000668,HP:0001631,HP:0000691,HP:0006695,HP:0000008 MP:0000274,MP:0000266,MP:0009709,MP:0001120,MP:0000689,MP:0005084,MP:0000692,MP:0030610 ORPHA:289157 Hypocalcemic Vitamin D-Dependent Rickets CYP27B1 Cyp27b1 hom early 71.585 HP:0005042,HP:0002663,HP:0000886,HP:0002980,HP:0002982,HP:0002901,HP:0002199,HP:0002970,HP:0002749,HP:0000920,HP:0002659,HP:0000897,HP:0003029,HP:0010537,HP:0002748,HP:0000737,HP:0006297,HP:0003106,HP:0003020,HP:0002752,HP:0002355,HP:0002148,HP:0002753 MP:0000150,MP:0003795,MP:0010025,MP:0002764,MP:0005298,MP:0000195,MP:0002187,MP:0000558,MP:0001402,MP:0005108,MP:0000149,MP:0004509,MP:0010124,MP:0001417,MP:0002968,MP:0000552,MP:0005343,MP:0002932,MP:0000063,MP:0005296,MP:0000198,MP:0005344,MP:0000559 ORPHA:289176 Autosomal Recessive Hypophosphatemic Rickets DMP1 Dmp1 hom early 54.1 HP:0100671,HP:0011001,HP:0011036,HP:0008732,HP:0002749,HP:0001363,HP:0003109,HP:0100686,HP:0000117,HP:0004912,HP:0003472,HP:0100036,HP:0006463 MP:0002968,MP:0003795,MP:0000063,MP:0000198,MP:0003068,MP:0010024,MP:0002135,MP:0010124 ORPHA:289504 Combined Malonic And Methylmalonic Acidemia ACSF3 Acsf3 hom early 21.24 HP:0040145,HP:0002912 MP:0008810 ORPHA:29072 Hereditary Pheochromocytoma-Paraganglioma TMEM127 Tmem127 hom early 38.35 HP:0001337,HP:0001605,HP:0003072 MP:0002968,MP:0005553,MP:0000745,MP:0008806,MP:0005344 ORPHA:29072 Hereditary Pheochromocytoma-Paraganglioma SDHC Sdhc het early 21.825 HP:0001824 MP:0001260 ORPHA:29072 Hereditary Pheochromocytoma-Paraganglioma SDHA Sdha het early 29.64 HP:0003072 MP:0005633,MP:0001554 ORPHA:29072 Hereditary Pheochromocytoma-Paraganglioma KIF1B Kif1b het early 31.035 HP:0001337,HP:0003072 MP:0001488,MP:0005633,MP:0003019 ORPHA:29072 Hereditary Pheochromocytoma-Paraganglioma KIF1B Kif1b hom embryo 29.285 HP:0008629,HP:0001342,HP:0001337,HP:0001635,HP:0001962,HP:0003574,HP:0000405,HP:0011703,HP:0002640 MP:0002177,MP:0001491,MP:0001914 ORPHA:29072 Hereditary Pheochromocytoma-Paraganglioma SDHB Sdhb het early 17.4 HP:0000093,HP:0003345,HP:0011979,HP:0003639,HP:0000790,HP:0000096 MP:0002135 ORPHA:2924 Isolated Polycystic Liver Disease SEC63 Sec63 het early 23.685 HP:0003573 MP:0002941 ORPHA:293181 Malignant Migrating Focal Seizures Of Infancy KCNT1 Kcnt1 hom early 32.825 HP:0002540,HP:0100543 MP:0001402,MP:0001417 ORPHA:293181 Malignant Migrating Focal Seizures Of Infancy PLCB1 Plcb1 het late 18.615 HP:0000826 MP:0001126 ORPHA:293843 3Mc Syndrome COLEC10 Colec10 hom early 32.645 HP:0003307,HP:0008689,HP:0002827,HP:0002974,HP:0040016,HP:0002650,HP:0003298,HP:0002825 MP:0002764,MP:0000137,MP:0001120 ORPHA:293948 1P21.3 Microdeletion Syndrome DPYD Dpyd hom early 29.335 HP:0100716,HP:0100738,HP:0000742,HP:0000718 MP:0001399,MP:0002574 ORPHA:293964 Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy AKT2 Akt2 het early 29.56 HP:0001956,HP:0001520 MP:0003961,MP:0003960,MP:0001262 ORPHA:293964 Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy AKT2 Akt2 hom early 48.13 HP:0001958,HP:0030781,HP:0001520,HP:0002173,HP:0001956,HP:0001998,HP:0001985 MP:0002968,MP:0000194,MP:0002078,MP:0003961,MP:0001262,MP:0005559,MP:0003960,MP:0002644 ORPHA:294023 Neonatal Inflammatory Skin And Bowel Disease ADAM17 Adam17 het early 12.55 HP:0100038,HP:0011228 MP:0002098 ORPHA:296 Ollier Disease PTH1R Pth1r het early 30.415 HP:0002797 MP:0010124 ORPHA:296 Ollier Disease IDH2 Idh2 hom early 39.165 HP:0001903 MP:0005564,MP:0005562,MP:0002591 ORPHA:2965 Prolactinoma CDH23 Cdh23 hom early 25.25 HP:0000938,HP:0000939 MP:0010123 ORPHA:2995 Baraitser-Winter Cerebrofrontofacial Syndrome ACTG1 Actg1 het embryo 38.33 HP:0002326,HP:0009942,HP:0000252,HP:0001302,HP:0007227,HP:0012157,HP:0001339,HP:0100308,HP:0002126,HP:0002120 MP:0000562,MP:0000564,MP:0000433,MP:0001914 ORPHA:2995 Baraitser-Winter Cerebrofrontofacial Syndrome ACTG1 Actg1 hom embryo 38.89 HP:0002326,HP:0009942,HP:0000252,HP:0001302,HP:0007227,HP:0001510,HP:0012157,HP:0001339,HP:0100308,HP:0002126,HP:0002120 MP:0000562,MP:0000564,MP:0000433,MP:0001914,MP:0003984 ORPHA:3000 Familial Peripheral Male-Limited Precocious Puberty LHCGR Lhcgr hom early 11.88 HP:0000053 MP:0000706 ORPHA:300536 Ddost-Cdg DDOST Ddost het early 19.99 HP:0001397,HP:0000832 MP:0002768,MP:0000692 ORPHA:300605 Juvenile Amyotrophic Lateral Sclerosis SIGMAR1 Sigmar1 hom early 20.55 HP:0002015 MP:0001399 ORPHA:300605 Juvenile Amyotrophic Lateral Sclerosis SPG11 Spg11 hom early 34.565 HP:0002530,HP:0001332,HP:0002599,HP:0100360,HP:0002179,HP:0005750,HP:0031960,HP:0002544,HP:0100543,HP:0012048 MP:0001488,MP:0010024,MP:0001417 ORPHA:3027 Caudal Regression Syndrome FUZ Fuz hom embryo 35.425 HP:0011867,HP:0000202,HP:0000822,HP:0002644,HP:0001762,HP:0002023 MP:0000562,MP:0000111,MP:0000564,MP:0001914,MP:0002109 ORPHA:306 Benign Familial Infantile Epilepsy PRRT2 Prrt2 hom early 33.48 HP:0002361 MP:0001454 ORPHA:306 Benign Familial Infantile Epilepsy KCNQ3 Kcnq3 hom early 30.725 HP:0002361 MP:0001415 ORPHA:3063 X-Linked Intellectual Disability, Snyder Type SMS Sms hem early 32.025 HP:0000939,HP:0002757,HP:0012385 MP:0000063,MP:0010124 ORPHA:3063 X-Linked Intellectual Disability, Snyder Type SMS Sms hom early 14.89 HP:0000028,HP:0000029,HP:0010789 MP:0001925 ORPHA:307 Juvenile Myoclonic Epilepsy KCNQ3 Kcnq3 hom early 31.6 HP:0000718 MP:0001399 ORPHA:308 Progressive Myoclonic Epilepsy Type 1 CSTB Cstb hom early 35.85 HP:0002392,HP:0001251,HP:0002070 MP:0004738,MP:0002574 ORPHA:309155 Sandhoff Disease, Infantile Form HEXB Hexb hom early 30.4 HP:0002267,HP:0001336,HP:0001257,HP:0001433 MP:0005505,MP:0000220,MP:0000745 ORPHA:309162 Sandhoff Disease, Juvenile Form HEXB Hexb hom early 48.21 HP:0002311,HP:0001251,HP:0007256,HP:0002071,HP:0002380,HP:0100543,HP:0001288 MP:0000745,MP:0001392,MP:0001406,MP:0001417 ORPHA:309169 Sandhoff Disease, Adult Form HEXB Hexb hom early 72.04 HP:0003236,HP:0001337,HP:0004373,HP:0002066,HP:0002380,HP:0001332,HP:0001268,HP:0001257 MP:0002968,MP:0005343,MP:0000745,MP:0001406,MP:0008810,MP:0001392,MP:0001417 ORPHA:309282 Alpha-Mannosidosis, Infantile Form MAN2B1 Man2b1 hom early 22.18 HP:0001251 MP:0001402 ORPHA:309288 Alpha-Mannosidosis, Adult Form MAN2B1 Man2b1 hom early 24.435 HP:0001251 MP:0001402 ORPHA:3115 Roussy-Lévy Syndrome MPZ Mpz hom early 53.085 HP:0002174,HP:0002317,HP:0003487,HP:0002070,HP:0002312,HP:0002066,HP:0002355,HP:0002359 MP:0000745,MP:0001402,MP:0001406 ORPHA:3124 Saccharopinuria AASS Aass hom early 12.745 HP:0032397,HP:0003297,HP:0003131 MP:0011874 ORPHA:313 Lamellar Ichthyosis ALOXE3 Aloxe3 het embryo 18.715 HP:0004322 MP:0003984 ORPHA:313 Lamellar Ichthyosis ALOXE3 Aloxe3 hom embryo 18.715 HP:0004322 MP:0003984 ORPHA:313 Lamellar Ichthyosis ABCA12 Abca12 hom embryo 44.35 HP:0011039,HP:0000958,HP:0100679,HP:0001944 MP:0001785,MP:0009931,MP:0002177 ORPHA:3138 Ulnar-Mammary Syndrome TBX3 Tbx3 het early 16.58 HP:0011675 MP:0006203 ORPHA:3144 Schneckenbecken Dysplasia SLC35D1 Slc35d1 hom embryo 43.75 HP:0012107,HP:0001561,HP:0001004,HP:0002983,HP:0000947,HP:0000175,HP:0008108,HP:0003038,HP:0000268,HP:0000944,HP:0005019 MP:0011495,MP:0009908,MP:0000111,MP:0001785,MP:0002109 ORPHA:314603 Autosomal Recessive Spastic Ataxia With Leukoencephalopathy MARS2 Mars2 het early 24.7 HP:0000012 MP:0011436 ORPHA:314652 Variant Abeta2M Amyloidosis B2M B2m het early 23.3 HP:0012332 MP:0001102 ORPHA:314911 Severe Canavan Disease ASPA Aspa hom early 47.15 HP:0002540,HP:0001254,HP:0000737,HP:0200136 MP:0011940,MP:0002757,MP:0001402,MP:0001406,MP:0001399,MP:0001417 ORPHA:314978 X-Linked Non Progressive Cerebellar Ataxia ATP2B3 Atp2b3 hem late 35.605 HP:0002317,HP:0002470,HP:0002078 MP:0001402 ORPHA:314978 X-Linked Non Progressive Cerebellar Ataxia ATP2B3 Atp2b3 hom late 35.005 HP:0002317,HP:0002470,HP:0002078 MP:0001402 ORPHA:3156 Senior-Loken Syndrome NPHP1 Nphp1 hom early 24.875 HP:0008209 MP:0001147,MP:0001146,MP:0001925 ORPHA:3156 Senior-Loken Syndrome IQCB1 Iqcb1 het early 30.475 HP:0000518 MP:0011962 ORPHA:3156 Senior-Loken Syndrome CEP290 Cep290 hom embryo 24.205 HP:0000822 MP:0001914 ORPHA:3156 Senior-Loken Syndrome TRAF3IP1 Traf3ip1 het early 31.495 HP:0000518 MP:0011962 ORPHA:3156 Senior-Loken Syndrome TRAF3IP1 Traf3ip1 hom embryo 20.545 HP:0004322 MP:0003984 ORPHA:3156 Senior-Loken Syndrome INVS Invs hom embryo 24.68 HP:0000822 MP:0001914 ORPHA:3156 Senior-Loken Syndrome NPHP4 Nphp4 hom early 24.365 HP:0008209 MP:0001925 ORPHA:3157 Septo-Optic Dysplasia Spectrum FGFR1 Fgfr1 hom embryo 17.755 HP:0004322 MP:0003984 ORPHA:3157 Septo-Optic Dysplasia Spectrum HESX1 Hesx1 hom embryo 40.93 HP:0100842,HP:0000609,HP:0002032,HP:0002575,HP:0000175 MP:0001293,MP:0000111 ORPHA:3157 Septo-Optic Dysplasia Spectrum SOX2 Sox2 het early 33.19 HP:0100842,HP:0000609 MP:0008259,MP:0010097 ORPHA:3157 Septo-Optic Dysplasia Spectrum SOX2 Sox2 het embryo 17.845 HP:0004322 MP:0003984 ORPHA:3162 Sézary Syndrome TNFRSF1B Tnfrsf1b hom early 30.83 HP:0001744,HP:0004332 MP:0005014,MP:0005018 ORPHA:3162 Sézary Syndrome CD28 Cd28 hom early 32.72 HP:0001744,HP:0004332 MP:0005018,MP:0000218,MP:0008074 ORPHA:317 Erythrokeratodermia Variabilis GJB4 Gjb4 hom early 19.365 HP:0000035 MP:0009709,MP:0004906,MP:0001120 ORPHA:317 Erythrokeratodermia Variabilis GJB3 Gjb3 het early 22.565 HP:0000365,HP:0000411 MP:0004738 ORPHA:317 Erythrokeratodermia Variabilis GJB3 Gjb3 het embryo 44.89 HP:0001156,HP:0000252,HP:0005588,HP:0001182 MP:0000564,MP:0000433 ORPHA:317 Erythrokeratodermia Variabilis GJB3 Gjb3 hom embryo 53.905 HP:0004322,HP:0001034,HP:0001182,HP:0000252,HP:0010783,HP:0005588,HP:0007400,HP:0000958,HP:0001156 MP:0000564,MP:0009931,MP:0000433,MP:0003717,MP:0011239,MP:0003984 ORPHA:31709 Infantile Convulsions And Choreoathetosis PRRT2 Prrt2 hom early 33.14 HP:0001266,HP:0002305,HP:0001332 MP:0001489 ORPHA:319182 Wiedemann-Steiner Syndrome KMT2A Kmt2a het early 18.005 HP:0010485,HP:0001508 MP:0003960,MP:0000063 ORPHA:319514 Combined Oxidative Phosphorylation Defect Type 13 PNPT1 Pnpt1 het early 27.405 HP:0001266 MP:0001406 ORPHA:319675 Microcephalic Primordial Dwarfism, Dauber Type NIN Nin hom early 11.4 HP:0008551 MP:0004738 ORPHA:3202 Dehydrated Hereditary Stomatocytosis PIEZO1 Piezo1 het early 29.115 HP:0003281,HP:0003573,HP:0003265,HP:0011042 MP:0002941 ORPHA:3202 Dehydrated Hereditary Stomatocytosis KCNN4 Kcnn4 hom early 52.22 HP:0001878,HP:0001923,HP:0001972,HP:0010972,HP:0030242,HP:0001744,HP:0001981,HP:0025548,HP:0020063,HP:0001046,HP:0001930,HP:0005518,HP:0001081,HP:0001901,HP:0004804 MP:0000601,MP:0000706,MP:0000691,MP:0002059,MP:0000709,MP:0004952,MP:0002875,MP:0001157,MP:0000598,MP:0010067,MP:0001148,MP:0000703,MP:0000689,MP:0001146 ORPHA:3203 Overhydrated Hereditary Stomatocytosis RHAG Rhag hom early 46.985 HP:0001878,HP:0001923,HP:0025547,HP:0011273,HP:0001744,HP:0025065,HP:0004446 MP:0000702,MP:0000709,MP:0005562,MP:0000274,MP:0002339,MP:0000703 ORPHA:320385 Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation TECPR2 Tecpr2 hom early 26.995 HP:0001310,HP:0002066 MP:0002574 ORPHA:3204 Stormorken-Sjaastad-Langslet Syndrome STIM1 Stim1 het early 35.35 HP:0001746,HP:0001903 MP:0000702,MP:0005013,MP:0002339,MP:0000219,MP:0000218 ORPHA:3204 Stormorken-Sjaastad-Langslet Syndrome STIM1 Stim1 het embryo 20.47 HP:0004322 MP:0003984 ORPHA:3204 Stormorken-Sjaastad-Langslet Syndrome STIM1 Stim1 het late 39.735 HP:0001746,HP:0001903 MP:0000691,MP:0000689 ORPHA:320406 Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome KLC2 Klc2 hom early 39.07 HP:0000543,HP:0002267,HP:0000648 MP:0006358,MP:0004738 ORPHA:320411 Autosomal Recessive Spastic Paraplegia Type 56 CYP2U1 Cyp2u1 hom early 35.97 HP:0001332 MP:0001513 ORPHA:3208 Isolated Succinate-Coq Reductase Deficiency SDHA Sdha het early 32.57 HP:0000737 MP:0020870 ORPHA:3208 Isolated Succinate-Coq Reductase Deficiency SDHB Sdhb het early 27.87 HP:0002505,HP:0001251,HP:0000076 MP:0002135,MP:0001402 ORPHA:3220 Deafness-Enamel Hypoplasia-Nail Defects Syndrome PEX1 Pex1 het early 36.285 HP:0011675 MP:0005140,MP:0005333 ORPHA:3226 Deafness-Lymphedema-Leukemia Syndrome GATA2 Gata2 het early 19.01 HP:0000407 MP:0004738 ORPHA:3237 Multiple Synostoses Syndrome GDF5 Gdf5 hom early 49.97 HP:0001156,HP:0001387,HP:0009773,HP:0010579,HP:0004279,HP:0011304,HP:0007598 MP:0000062,MP:0000572,MP:0000550,MP:0002110,MP:0000556 ORPHA:3240 Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome KARS1 Kars1 het early 37.27 HP:0002599,HP:0008568,HP:0002510,HP:0001332 MP:0000745 ORPHA:324290 Early-Onset Lafora Body Disease PRDM8 Prdm8 hom early 21.4 HP:0001251 MP:0001402 ORPHA:324422 Alg13-Cdg ALG13 Alg13 hom early 20.155 HP:0004325 MP:0003961 ORPHA:324442 Autosomal Recessive Axonal Neuropathy With Neuromyotonia HINT1 Hint1 hom early 31.18 HP:0007289,HP:0002359,HP:0002356,HP:0002273 MP:0000745,MP:0001488 ORPHA:324604 Classic Multiminicore Myopathy SELENON Selenon hom early 26.06 HP:0002828,HP:0002650,HP:0003306 MP:0004609 ORPHA:324737 Srd5A3-Cdg SRD5A3 Srd5a3 het early 21.18 HP:0000648,HP:0000365 MP:0004738 ORPHA:325 Congenital Factor Ii Deficiency F2 F2 het early 31.35 HP:0001903 MP:0002591 ORPHA:3250 Proximal Symphalangism GDF5 Gdf5 hom early 46.205 HP:0006101,HP:0001156,HP:0100490,HP:0008368,HP:0005880,HP:0003042,HP:0040019,HP:0100264,HP:0005916,HP:0004209,HP:0003019,HP:0003070,HP:0005048 MP:0000062,MP:0000572,MP:0000550,MP:0002110,MP:0000556 ORPHA:328 Congenital Factor X Deficiency F10 F10 het early 17.945 HP:0000790 MP:0003917 ORPHA:3286 Catecholaminergic Polymorphic Ventricular Tachycardia CASQ2 Casq2 het early 63.3 HP:0001279,HP:0004756,HP:0001645 MP:0004122,MP:0003929 ORPHA:3287 Takayasu Arteritis MLX Mlx hom late 35.62 HP:0001903,HP:0001824 MP:0003960,MP:0002591,MP:0005562 ORPHA:329178 Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy DPM2 Dpm2 het early 30.605 HP:0002240,HP:0003236 MP:0000274,MP:0005568 ORPHA:329224 Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome PACS1 Pacs1 het early 24.105 HP:0000028 MP:0002059 ORPHA:329249 Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency SH2B1 Sh2b1 het early 35.6 HP:0003074,HP:0000842 MP:0005293 ORPHA:329284 Beta-Propeller Protein-Associated Neurodegeneration WDR45 Wdr45 hem early 39.29 HP:0000718,HP:0001337,HP:0000648,HP:0012332,HP:0001332 MP:0001486,MP:0004738,MP:0001399 ORPHA:329284 Beta-Propeller Protein-Associated Neurodegeneration WDR45 Wdr45 hem late 30.545 HP:0000718 MP:0001399 ORPHA:329308 Fatty Acid Hydroxylase-Associated Neurodegeneration FA2H Fa2h hom early 30.82 HP:0000648,HP:0002015,HP:0000716 MP:0001325,MP:0020421,MP:0002699 ORPHA:329314 Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency DGUOK Dguok hom early 40.585 HP:0000726,HP:0001251,HP:0100543,HP:0000716 MP:0001392,MP:0001402,MP:0001417 ORPHA:32960 Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome TNFRSF1A Tnfrsf1a hom early 38.805 HP:0001744,HP:0001974 MP:0012362,MP:0005013,MP:0005011,MP:0002606,MP:0000218 ORPHA:32960 Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome TNFRSF1A Tnfrsf1a hom late 40.64 HP:0001744,HP:0001974,HP:0011227 MP:0012362,MP:0000195,MP:0005011,MP:0005013,MP:0002606,MP:0000223,MP:0000222,MP:0000218 ORPHA:32960 Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome TNFRSF1A Tnfrsf1a hom early 33.845 HP:0001744,HP:0001637,HP:0001701,HP:0001974 MP:0000274,MP:0000266,MP:0008044,MP:0000219,MP:0010850 ORPHA:329971 Generalized Juvenile Polyposis/Juvenile Polyposis Coli ENG Eng het early 17.265 HP:0001903 MP:0000219 ORPHA:329971 Generalized Juvenile Polyposis/Juvenile Polyposis Coli ENG Eng hom embryo 16.95 HP:0001510 MP:0003984 ORPHA:330050 Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect DNM1L Dnm1l het early 49.385 HP:0000648 MP:0008259,MP:0002699,MP:0001289 ORPHA:3303 Tetralogy Of Fallot TBX1 Tbx1 het early 14.845 HP:0000028 MP:0001944 ORPHA:3303 Tetralogy Of Fallot TBX1 Tbx1 hom embryo 40.135 HP:0001511 MP:0003984 ORPHA:33069 Dravet Syndrome GABRG2 Gabrg2 het early 19.07 HP:0003066 MP:0000063 ORPHA:33110 Autosomal Agammaglobulinemia SPI1 Spi1 het early 21.935 HP:0001875 MP:0002590,MP:0002875 ORPHA:33110 Autosomal Agammaglobulinemia LRRC8A Lrrc8a het early 25.065 HP:0002205,HP:0002110 MP:0001175,MP:0004882 ORPHA:33110 Autosomal Agammaglobulinemia LRRC8A Lrrc8a hom embryo 32.15 HP:0001944 MP:0001785 ORPHA:33110 Autosomal Agammaglobulinemia BLNK Blnk hom early 45.705 HP:0012115,HP:0001875 MP:0000221,MP:0002607,MP:0012361,MP:0005011,MP:0004953,MP:0000219,MP:0000692,MP:0005016 ORPHA:3318 Essential Thrombocythemia TP53 Trp53 hom early 21.905 HP:0001744,HP:0011875,HP:0002488 MP:0012362 ORPHA:3319 Congenital Amegakaryocytic Thrombocytopenia THPO Thpo hom early 58.05 HP:0001873,HP:0011902,HP:0001903 MP:0003179,MP:0002599 ORPHA:33364 Trichothiodystrophy GTF2E2 Gtf2e2 het early 23.53 HP:0025548,HP:0001903,HP:0001875 MP:0002599 ORPHA:33364 Trichothiodystrophy ERCC3 Ercc3 het early 29.96 HP:0025548,HP:0001903,HP:0001875 MP:0005562 ORPHA:3337 Primary Fanconi Renotubular Syndrome NDUFAF6 Ndufaf6 het early 20.135 HP:0001824 MP:0001260 ORPHA:3337 Primary Fanconi Renotubular Syndrome GATM Gatm hom early 38.765 HP:0003537,HP:0003646,HP:0002148,HP:0002900,HP:0003234,HP:0004912 MP:0005343,MP:0005179,MP:0002966,MP:0005627,MP:0008806 ORPHA:3337 Primary Fanconi Renotubular Syndrome EHHADH Ehhadh hom early 40.09 HP:0003537,HP:0003646,HP:0002148,HP:0002900,HP:0003234,HP:0004912 MP:0005627 ORPHA:334 Familial Atrial Fibrillation KCNJ3 Kcnj3 hom early 33.205 HP:0002094 MP:0005576,MP:0005575,MP:0005574 ORPHA:33445 Neuroectodermal Melanolysosomal Disease MYO5A Myo5a hom early 54.01 HP:0002216,HP:0005599,HP:0007440,HP:0001010 MP:0002075 ORPHA:3377 Trismus-Pseudocamptodactyly Syndrome MYH8 Myh8 het early 28.88 HP:0002827,HP:0009773 MP:0000157 ORPHA:3447 Weaver Syndrome EZH2 Ezh2 het early 26.495 HP:0002650 MP:0004650 ORPHA:3451 Infantile Spasms Syndrome WDR45 Wdr45 hem early 37.87 HP:0002521 MP:0004738 ORPHA:3452 Whipple Disease IRF4 Irf4 hom early 45.135 HP:0001744,HP:0100721,HP:0001903,HP:0002240 MP:0000702,MP:0000691,MP:0000709,MP:0004952,MP:0002339,MP:0000703,MP:0000689,MP:0000219,MP:0005016 ORPHA:3453 Autoimmune Polyendocrinopathy Type 1 AIRE Aire het early 22.29 HP:0003118 MP:0005278 ORPHA:3455 Wiedemann-Rautenstrauch Syndrome POLR3A Polr3a het early 23.34 HP:0000938,HP:0000047,HP:0030265,HP:0000076,HP:0100581,HP:0000126 MP:0010123,MP:0011874 ORPHA:3463 Wolfram Syndrome CISD2 Cisd2 hom early 31.37 HP:0002239,HP:0000819,HP:0001251,HP:0001387,HP:0001638 MP:0002834,MP:0000063,MP:0001402,MP:0002078,MP:0005542 ORPHA:3473 Zimmermann-Laband Syndrome ATP6V1B2 Atp6v1b2 het early 26.465 HP:0001744 MP:0005642,MP:0005562,MP:0002874,MP:0002591,MP:0002217 ORPHA:3473 Zimmermann-Laband Syndrome KCNMA1 Kcnma1 hom early 33.58 HP:0002240,HP:0001744,HP:0000407,HP:0002265,HP:0009894 MP:0004953,MP:0002102 ORPHA:3474 Chime Syndrome PIGL Pigl het early 14.91 HP:0008070,HP:0002213 MP:0002098 ORPHA:349 Fucosidosis FUCA1 Fuca1 hom early 19.115 HP:0000365 MP:0004738 ORPHA:35 Propionic Acidemia PCCB Pccb het early 20.8 HP:0001992 MP:0002135,MP:0008528 ORPHA:35 Propionic Acidemia PCCB Pccb het embryo 27.375 HP:0001638,HP:0011675 MP:0001914 ORPHA:35 Propionic Acidemia PCCB Pccb hom embryo 27.375 HP:0001638,HP:0011675 MP:0001914 ORPHA:35078 T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency JAK3 Jak3 het early 35.605 HP:0003347,HP:0040219,HP:0001433,HP:0005403,HP:0010976,HP:0001888 MP:0002339,MP:0000702,MP:0000691,MP:0000689 ORPHA:35099 Non-Syndromic Bicoronal Craniosynostosis TWIST1 Twist1 het early 40.63 HP:0009701,HP:0001156 MP:0004509,MP:0000572,MP:0002110 ORPHA:352490 Autism Spectrum Disorder Due To Auts2 Deficiency AUTS2 Auts2 het early 18.16 HP:0001518 MP:0003960 ORPHA:352530 Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome TRAPPC9 Trappc9 hom early 19.52 HP:0000664,HP:0001513,HP:0011228,HP:0000851 MP:0002098,MP:0002079,MP:0003961 ORPHA:352682 Cobblestone Lissencephaly Without Muscular Or Ocular Involvement LAMB1 Lamb1 het early 27.595 HP:0000648 MP:0003733 ORPHA:352723 Attenuated Chédiak-Higashi Syndrome LYST Lyst hom early 35.87 HP:0007513,HP:0001107 MP:0001325,MP:0001322,MP:0002075 ORPHA:353327 Congenital Myasthenic Syndromes With Glycosylation Defect GFPT1 Gfpt1 het early 19.835 HP:0003236 MP:0005178,MP:0001556 ORPHA:35612 Nanophthalmos ALDH1A3 Aldh1a3 hom embryo 62.07 HP:0000568 MP:0001297 ORPHA:35612 Nanophthalmos PRSS56 Prss56 hom early 21.595 HP:0007703 MP:0002075 ORPHA:35612 Nanophthalmos SOX2 Sox2 het early 42.885 HP:0007703,HP:0000610 MP:0001319,MP:0008259,MP:0010097 ORPHA:357074 Autosomal Recessive Cutis Laxa Type 2, Classic Type ATP6V1A Atp6v1a het early 27.84 HP:0002361,HP:0000726,HP:0025244 MP:0003733,MP:0001417 ORPHA:35737 Morning Glory Disc Anomaly PAX6 Pax6 het early 30.945 HP:0000518 MP:0001314,MP:0005542 ORPHA:363400 Severe Neurodegenerative Syndrome With Lipodystrophy BSCL2 Bscl2 hom early 45.365 HP:0003758,HP:0000752,HP:0002155,HP:0025128,HP:0001251,HP:0000855,HP:0000842,HP:0009064,HP:0002066 MP:0002968,MP:0002941,MP:0005343,MP:0000194,MP:0005568,MP:0005178,MP:0001402,MP:0013279,MP:0010025,MP:0001566,MP:0001556,MP:0005292,MP:0011941,MP:0011939,MP:0005559,MP:0002965,MP:0001406 ORPHA:363417 Temtamy Preaxial Brachydactyly Syndrome CHSY1 Chsy1 hom early 41.285 HP:0005037,HP:0008368,HP:0001090,HP:0000517,HP:0000648,HP:0012795,HP:0000369,HP:0006152,HP:0008625,HP:0100266 MP:0001297,MP:0001314,MP:0000063,MP:0001304,MP:0002699,MP:0004738,MP:0001325 ORPHA:363444 Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome THOC6 Thoc6 het early 28.06 HP:0000054,HP:0012382,HP:0000047,HP:0030127 MP:0004832,MP:0010393 ORPHA:363523 Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome COG6 Cog6 hom early 18.225 HP:0012115,HP:0005338 MP:0008182,MP:0002075 ORPHA:36387 Generalized Epilepsy With Febrile Seizures-Plus ADGRV1 Adgrv1 hom early 48.59 HP:0001763,HP:0001337,HP:0008770,HP:0003066,HP:0004684,HP:0010850,HP:0100694 MP:0001486,MP:0004738,MP:0002764,MP:0001399,MP:0001489 ORPHA:36387 Generalized Epilepsy With Febrile Seizures-Plus HCN1 Hcn1 hom early 55.235 HP:0002311,HP:0001251,HP:0001337,HP:0002067,HP:0007010,HP:0100543,HP:0010850 MP:0001402,MP:0000745,MP:0001406,MP:0004738,MP:0001392,MP:0001417 ORPHA:36387 Generalized Epilepsy With Febrile Seizures-Plus GABRG2 Gabrg2 het early 19.665 HP:0003066 MP:0000063 ORPHA:364055 Severe Early-Childhood-Onset Retinal Dystrophy RPE65 Rpe65 hom early 50.075 HP:0000541,HP:0007737,HP:0012230,HP:0007703,HP:0007722,HP:0000543,HP:0001116,HP:0007814,HP:0007787,HP:0007793,HP:0011488,HP:0000533,HP:0001103,HP:0012426,HP:0011484,HP:0000546,HP:0007843 MP:0001317,MP:0001325,MP:0006243 ORPHA:364055 Severe Early-Childhood-Onset Retinal Dystrophy SPATA7 Spata7 hom early 46.755 HP:0000541,HP:0007737,HP:0012230,HP:0007703,HP:0007722,HP:0000543,HP:0001116,HP:0007814,HP:0007793,HP:0000533,HP:0001103,HP:0012426,HP:0000546,HP:0007843 MP:0001325 ORPHA:36412 Hypocomplementemic Urticarial Vasculitis DNASE1L3 Dnase1l3 hom early 44.35 HP:0001744,HP:0002240,HP:0001541,HP:0002716 MP:0000601,MP:0000691,MP:0004952,MP:0000598,MP:0010067,MP:0000689 ORPHA:366 Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency AGL Agl hom early 58.45 HP:0002155,HP:0001943 MP:0002968,MP:0010090,MP:0005343,MP:0002941,MP:0005178,MP:0013279,MP:0008806,MP:0005344,MP:0008810,MP:0005293,MP:0005560 ORPHA:368 Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency PYGM Pygm hom early 36.34 HP:0001639,HP:0001649 MP:0010506 ORPHA:369840 Trappc11-Related Limb-Girdle Muscular Dystrophy R18 TRAPPC11 Trappc11 het early 21.335 HP:0040081 MP:0005553 ORPHA:369891 Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency MED13L Med13l hom embryo 43.625 HP:0001537,HP:0007633,HP:0004322 MP:0001297,MP:0003984 ORPHA:369942 Cadds ABCD1 Abcd1 hem early 45.055 HP:0000518,HP:0033643 MP:0001304,MP:0001303,MP:0008821 ORPHA:370022 Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome LAMA1 Lama1 het early 49.585 HP:0001105,HP:0000556,HP:0003236,HP:0002599,HP:0100543 MP:0002941,MP:0001488,MP:0001289,MP:0001325,MP:0001417 ORPHA:370097 Oculocutaneous Albinism Type 6 SLC24A5 Slc24a5 hom early 54.105 HP:0008034,HP:0008059,HP:0001098,HP:0030613 MP:0012122,MP:0001325 ORPHA:370924 Stt3B-Cdg STT3B Stt3b het early 22.675 HP:0001873 MP:0005562 ORPHA:370924 Stt3B-Cdg STT3B Stt3b hom embryo 34.81 HP:0001511 MP:0003984 ORPHA:370930 Xylt1-Cdg XYLT1 Xylt1 hom embryo 15.185 HP:0002673,HP:0003015,HP:0100864,HP:0030084,HP:0011304 MP:0002109 ORPHA:371364 Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome NALCN Nalcn het embryo 41.725 HP:0003273,HP:0001166,HP:0000252,HP:0200055,HP:0002987,HP:0001762,HP:0002079,HP:0009884 MP:0000562,MP:0000564,MP:0000433 ORPHA:371364 Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome NALCN Nalcn hom embryo 41.725 HP:0003273,HP:0001166,HP:0000252,HP:0200055,HP:0002987,HP:0001762,HP:0002079,HP:0009884 MP:0000562,MP:0000564,MP:0000433 ORPHA:371428 Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum MMP2 Mmp2 hom early 38.79 HP:0000938,HP:0001085,HP:0001647,HP:0001629,HP:0045039,HP:0000939,HP:0002797,HP:0001719,HP:0009139,HP:0001634,HP:0006234,HP:0001495,HP:0001631,HP:0001059,HP:0000612 MP:0003795,MP:0000274,MP:0001304,MP:0000266,MP:0002699 ORPHA:371428 Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum MMP2 Mmp2 hom late 31.76 HP:0000938,HP:0010314,HP:0045039,HP:0000939,HP:0002797,HP:0000147,HP:0009139,HP:0006234,HP:0001495,HP:0005994 MP:0002059,MP:0010124 ORPHA:373 Simpson-Golabi-Behmel Syndrome GPC4 Gpc4 hem early 32.82 HP:0001744,HP:0001943,HP:0001748 MP:0005561,MP:0013278,MP:0005641 ORPHA:377 Gorlin Syndrome SUFU Sufu hom embryo 36.74 HP:0000238,HP:0001166,HP:0001156 MP:0003232,MP:0006108,MP:0003864,MP:0005650,MP:0003720 ORPHA:379 Chronic Granulomatous Disease CYBC1 Cybc1 hom early 18.89 HP:0001744,HP:0001874 MP:0005505 ORPHA:379 Chronic Granulomatous Disease CYBA Cyba hom early 25.4 HP:0001744,HP:0100523,HP:0001874 MP:0002599,MP:0000218 ORPHA:379 Chronic Granulomatous Disease NCF2 Ncf2 hom early 29.665 HP:0001744,HP:0100523,HP:0001874 MP:0012765,MP:0000221,MP:0008040,MP:0004974,MP:0008045,MP:0005018,MP:0002599,MP:0012767 ORPHA:379 Chronic Granulomatous Disease CYBB Cybb hom early 41.73 HP:0002240,HP:0100523,HP:0001874,HP:0001744,HP:0100721 MP:0004952,MP:0002591 ORPHA:379 Chronic Granulomatous Disease NCF1 Ncf1 hom early 38.78 HP:0001744,HP:0100721,HP:0002240 MP:0002339,MP:0000702,MP:0003068 ORPHA:379 Chronic Granulomatous Disease NCF1 Ncf1 hom late 43.315 HP:0002205,HP:0002240,HP:0100523,HP:0001874,HP:0100721,HP:0001744 MP:0001175,MP:0000691,MP:0000689 ORPHA:39041 Omenn Syndrome CHD7 Chd7 het early 30.615 HP:0001508 MP:0003961,MP:0001262 ORPHA:391307 Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome TTI2 Tti2 het early 46.01 HP:0000737,HP:0001888 MP:0005016,MP:0000219,MP:0001417 ORPHA:391372 Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome FOXP1 Foxp1 het early 40.28 HP:0025502,HP:0008762,HP:0001508,HP:0007018 MP:0001399,MP:0003960 ORPHA:391408 Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome TRMT10A Trmt10a hom early 33.73 HP:0001388,HP:0001518,HP:0004325 MP:0000062,MP:0001262 ORPHA:391411 Atypical Juvenile Parkinsonism SYNJ1 Synj1 het early 49.7 HP:0002322,HP:0004305,HP:0002063,HP:0007256,HP:0002066,HP:0002067,HP:0007164,HP:0001336,HP:0001332 MP:0000745 ORPHA:391487 Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome STAT1 Stat1 hom early 46.09 HP:0000938,HP:0001890,HP:0001973,HP:0001904,HP:0001433,HP:0005403,HP:0010976,HP:0001888,HP:0040160,HP:0001873 MP:0000702,MP:0005562,MP:0012362,MP:0005013,MP:0005011,MP:0002591,MP:0002606,MP:0000219,MP:0010124,MP:0000220,MP:0005016,MP:0000218 ORPHA:391665 Homozygous Familial Hypercholesterolemia PCSK9 Pcsk9 hom early 34.25 HP:0003141,HP:0003124,HP:0003077 MP:0002968,MP:0000186,MP:0011886,MP:0005179,MP:0008806 ORPHA:391665 Homozygous Familial Hypercholesterolemia LDLR Ldlr hom early 40.885 HP:0003141,HP:0003124,HP:0003077,HP:0001138 MP:0005178,MP:0011897,MP:0001556,MP:0004738,MP:0008810 ORPHA:391665 Homozygous Familial Hypercholesterolemia ABCG8 Abcg8 hom early 45.685 HP:0001681,HP:0001658,HP:0001645,HP:0002094,HP:0003077,HP:0030148,HP:0003141,HP:0005162,HP:0000822,HP:0001653,HP:0006693,HP:0003124,HP:0001397,HP:0004381 MP:0002968,MP:0010896,MP:0002941,MP:0005343,MP:0000691,MP:0011044,MP:0004151,MP:0005553,MP:0005178,MP:0001552,MP:0005634,MP:0000599,MP:0000598,MP:0005627,MP:0005599,MP:0000689,MP:0005419,MP:0005278,MP:0003921 ORPHA:393 46,Xx Testicular Difference Of Sex Development NR0B1 Nr0b1 hem early 38.285 HP:0000062,HP:0000026,HP:0008734,HP:0000147 MP:0002160 ORPHA:397590 Silver-Russell Syndrome Due To A Point Mutation CDKN1C Cdkn1c het embryo 28.785 HP:0001562 MP:0001785 ORPHA:397590 Silver-Russell Syndrome Due To A Point Mutation CDKN1C Cdkn1c hom embryo 28.785 HP:0001562 MP:0001785 ORPHA:397590 Silver-Russell Syndrome Due To A Point Mutation PLAG1 Plag1 hom early 27.13 HP:0001159,HP:0000347,HP:0009237,HP:0010442,HP:0000369,HP:0100257,HP:0004209 MP:0004738,MP:0002764 ORPHA:397612 Macrocephaly-Developmental Delay Syndrome KPTN Kptn hom early 11.49 HP:0001433 MP:0002874 ORPHA:397709 Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome SNX14 Snx14 het early 11.1 HP:0001433 MP:0002599 ORPHA:397715 Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy CSPP1 Cspp1 hom early 17.665 HP:0008797 MP:0010124 ORPHA:397973 Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome TBC1D2B Tbc1d2b hom early 17.88 HP:0001513 MP:0003960 ORPHA:399081 Klhl9-Related Early-Onset Distal Myopathy KLHL9 Klhl9 hom early 21.075 HP:0006466 MP:0000063 ORPHA:399805 Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation STAG3 Stag3 hom early 56 HP:0011961,HP:0000837,HP:0008669,HP:0000027,HP:0011962,HP:0008734 MP:0001147,MP:0001925,MP:0001926 ORPHA:399805 Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation TERB1 Terb1 het early 36.96 HP:0011961,HP:0000837,HP:0008669,HP:0000027,HP:0011962,HP:0008734 MP:0001126,MP:0000703,MP:0000709 ORPHA:399805 Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation SYCE1 Syce1 hom early 36.765 HP:0011961,HP:0008669,HP:0000027,HP:0011962,HP:0008734 MP:0001925,MP:0001926 ORPHA:399805 Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation SPAG17 Spag17 hom early 42.07 HP:0011961,HP:0008669,HP:0000027,HP:0011962,HP:0008734 MP:0001925 ORPHA:399805 Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation CATIP Catip hom early 42.07 HP:0011961,HP:0008669,HP:0000027,HP:0011962,HP:0008734 MP:0001925 ORPHA:399805 Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation KLHL10 Klhl10 hom early 39.975 HP:0011961,HP:0008669,HP:0000027,HP:0011962,HP:0008734 MP:0001925 ORPHA:399805 Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation C14orf39 4930447C04Rik hom early 36.765 HP:0011961,HP:0008669,HP:0000027,HP:0011962,HP:0008734 MP:0001925,MP:0001926 ORPHA:399805 Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation DNAH10 Dnah10 hom early 44.765 HP:0011961,HP:0008669,HP:0000027,HP:0011962,HP:0008734 MP:0001925 ORPHA:399805 Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation PNLDC1 Pnldc1 hom early 39.975 HP:0011961,HP:0008669,HP:0000027,HP:0011962,HP:0008734 MP:0001925 ORPHA:399805 Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation CCDC34 Ccdc34 hom early 42.07 HP:0011961,HP:0008669,HP:0000027,HP:0011962,HP:0008734 MP:0001925 ORPHA:399805 Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation FBXO43 Fbxo43 hom early 35.795 HP:0011961,HP:0008669,HP:0000027,HP:0011962,HP:0008734 MP:0001925,MP:0001926 ORPHA:40 Acromesomelic Dysplasia, Maroteaux Type NPR2 Npr2 hom early 18.51 HP:0006487,HP:0001156,HP:0003086 MP:0000550,MP:0000556 ORPHA:401768 Proximal Myopathy With Extrapyramidal Signs MICU1 Micu1 hom early 34.455 HP:0001251,HP:0002355 MP:0001392,MP:0001406 ORPHA:401777 Optic Atrophy-Intellectual Disability Syndrome NR2F1 Nr2f1 het early 22.3 HP:0000609,HP:0000648,HP:0000411,HP:0011039,HP:0000365 MP:0004738 ORPHA:401777 Optic Atrophy-Intellectual Disability Syndrome NR2F1 Nr2f1 hom embryo 18.96 HP:0004322 MP:0003984 ORPHA:401780 Autosomal Recessive Spastic Paraplegia Type 61 ARL6IP1 Arl6ip1 hom early 54.19 HP:0012407,HP:0002355 MP:0001406 ORPHA:401785 Autosomal Recessive Spastic Paraplegia Type 62 ERLIN1 Erlin1 hom late 22.595 HP:0006380 MP:0000063 ORPHA:401810 Autosomal Recessive Spastic Paraplegia Type 64 ENTPD1 Entpd1 hom early 33.46 HP:0001257 MP:0000745 ORPHA:401911 Axin2-Related Attenuated Familial Adenomatous Polyposis AXIN2 Axin2 hom embryo 19.145 HP:0100743,HP:0200063,HP:0005227,HP:0003003 MP:0009908 ORPHA:404440 Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency SETD5 Setd5 het early 38.15 HP:0000219,HP:0002553,HP:0000347,HP:0002808,HP:0002002,HP:0000294,HP:0000431,HP:0000175,HP:0002714,HP:0000190,HP:0002650,HP:0000369,HP:0000193,HP:0000319,HP:0000343 MP:0004609,MP:0000443,MP:0002075,MP:0004738,MP:0005358,MP:0000455,MP:0002100 ORPHA:404443 Tatton-Brown-Rahman Syndrome DNMT3A Dnmt3a het early 31.655 HP:0001250,HP:0001537,HP:0001513 MP:0003961,MP:0000947,MP:0010024 ORPHA:404443 Tatton-Brown-Rahman Syndrome DNMT3A Dnmt3a hom embryo 12.35 HP:0001537 MP:0001697 ORPHA:411511 Angelman Syndrome Due To A Point Mutation UBE3A Ube3a het early 43.985 HP:0002136,HP:0001251,HP:0100738,HP:0100703,HP:0002141,HP:0000748,HP:0002015,HP:0100023 MP:0001402,MP:0011940 ORPHA:411511 Angelman Syndrome Due To A Point Mutation UBE3A Ube3a hom early 45.195 HP:0002136,HP:0001251,HP:0100738,HP:0100703,HP:0000748,HP:0002141,HP:0002015,HP:0100023 MP:0001399,MP:0001402,MP:0011940,MP:0002757 ORPHA:411515 Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 UBE3A Ube3a het early 45.58 HP:0000752,HP:0002136,HP:0001251,HP:0000748,HP:0002591 MP:0001402,MP:0011940 ORPHA:411515 Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 UBE3A Ube3a hom early 55.03 HP:0000736,HP:0002136,HP:0000752,HP:0001251,HP:0000748,HP:0002591 MP:0011940,MP:0002757,MP:0001402,MP:0001399,MP:0001417 ORPHA:411602 Hereditary Late-Onset Parkinson Disease GIGYF2 Gigyf2 hom early 47.49 HP:0002322,HP:0001300,HP:0002304,HP:0002063,HP:0000716,HP:0002067,HP:0000726,HP:0002362,HP:0000744,HP:0001332,HP:0001268,HP:0002548,HP:0002359 MP:0000745,MP:0001392,MP:0001402,MP:0001417 ORPHA:411602 Hereditary Late-Onset Parkinson Disease SNCA Snca hom early 26.225 HP:0002362,HP:0002304 MP:0001392 ORPHA:411602 Hereditary Late-Onset Parkinson Disease SNCA Snca hom late 13.36 HP:0004926 MP:0003896 ORPHA:411602 Hereditary Late-Onset Parkinson Disease VPS35 Vps35 het early 32.895 HP:0002362,HP:0002304 MP:0001406 ORPHA:411602 Hereditary Late-Onset Parkinson Disease DNAJC13 Dnajc13 het early 14.98 HP:0004926 MP:0005333 ORPHA:411602 Hereditary Late-Onset Parkinson Disease GBA1 Gba1 het early 13.905 HP:0004926 MP:0010392 ORPHA:411602 Hereditary Late-Onset Parkinson Disease EIF4G1 Eif4g1 het early 14.71 HP:0001824 MP:0003961 ORPHA:412 Dysbetalipoproteinemia APOE Apoe hom early 56.05 HP:0003233,HP:0002155,HP:0000819,HP:0003141,HP:0001114,HP:0003124 MP:0000182,MP:0002968,MP:0005178,MP:0001552,MP:0002078,MP:0005419,MP:0005344,MP:0005560 ORPHA:412069 Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome AHDC1 Ahdc1 het early 22.8 HP:0001388,HP:0001363,HP:0001508,HP:0002779 MP:0003961,MP:0000063,MP:0010124 ORPHA:415 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome SLC25A15 Slc25a15 het early 27.425 HP:0003218,HP:0001289,HP:0100543 MP:0002135,MP:0001417 ORPHA:417 Neonatal Severe Primary Hyperparathyroidism CASR Casr het early 21.58 HP:0001744,HP:0002240 MP:0001944 ORPHA:420741 Riddle Syndrome RNF168 Rnf168 hom early 30.09 HP:0000524,HP:0008940,HP:0006254 MP:0005176,MP:0001314,MP:0010090,MP:0002941,MP:0005287,MP:0004953 ORPHA:420741 Riddle Syndrome RNF168 Rnf168 hom early 33.615 HP:0000524,HP:0008940,HP:0006254,HP:0001824,HP:0001369 MP:0001312,MP:0010090,MP:0002941,MP:0002792,MP:0005343,MP:0001303,MP:0004609,MP:0000709,MP:0001304,MP:0001566,MP:0001262,MP:0001307,MP:0000689,MP:0010097,MP:0000703,MP:0011971 ORPHA:423 Malignant Hyperthermia Of Anesthesia CACNA1S Cacna1s hom embryo 26.61 HP:0012416,HP:0001722,HP:0004756,HP:0006682,HP:0004755 MP:0001575,MP:0001914 ORPHA:423 Malignant Hyperthermia Of Anesthesia RYR1 Ryr1 het early 24.53 HP:0012416 MP:0010378 ORPHA:428 Autosomal Dominant Hypocalcemia GNA11 Gna11 hom early 51.54 HP:0002356,HP:0004349,HP:0002905,HP:0002901,HP:0002917 MP:0002941,MP:0000063,MP:0000194,MP:0001488,MP:0008805,MP:0000198,MP:0010123 ORPHA:428 Autosomal Dominant Hypocalcemia CASR Casr het early 57.84 HP:0000648,HP:0003473,HP:0002905,HP:0002901,HP:0002917 MP:0000194,MP:0001102,MP:0009142,MP:0001566 ORPHA:428 Autosomal Dominant Hypocalcemia GNA11 Gna11 hom early 16.78 HP:0004349 MP:0004609 ORPHA:432 Normosmic Congenital Hypogonadotropic Hypogonadism CHD7 Chd7 het early 28.81 HP:0003782 MP:0003961,MP:0001262 ORPHA:432 Normosmic Congenital Hypogonadotropic Hypogonadism FGFR1 Fgfr1 hom embryo 15.365 HP:0000823 MP:0003984 ORPHA:432 Normosmic Congenital Hypogonadotropic Hypogonadism NHLH2 Nhlh2 hom early 64.07 HP:0000938,HP:0003782,HP:0000044,HP:0000134,HP:0011961,HP:0000028,HP:0002761,HP:0000939,HP:0003187,HP:0000869,HP:0030019,HP:0000013,HP:0000027,HP:0000786,HP:0008724,HP:0000802,HP:0012385,HP:0000026,HP:0000054,HP:0008734 MP:0003795,MP:0002059,MP:0000063,MP:0001926,MP:0003578,MP:0006415,MP:0001120,MP:0003961,MP:0002631,MP:0001925,MP:0004727,MP:0003918,MP:0002637,MP:0010124,MP:0003642,MP:0001146,MP:0001126,MP:0010024 ORPHA:432 Normosmic Congenital Hypogonadotropic Hypogonadism KISS1R Kiss1r hom early 64.2 HP:0000938,HP:0003782,HP:0000044,HP:0000134,HP:0011961,HP:0000028,HP:0002761,HP:0000939,HP:0003187,HP:0000869,HP:0030019,HP:0000013,HP:0000027,HP:0000786,HP:0008724,HP:0000802,HP:0012385,HP:0000026,HP:0000054,HP:0008734 MP:0003795,MP:0002059,MP:0001925,MP:0001262,MP:0002989,MP:0002135,MP:0003558,MP:0001120,MP:0003961,MP:0004727,MP:0010124,MP:0001126,MP:0002631,MP:0003918,MP:0003578,MP:0010024,MP:0001146,MP:0000063,MP:0001926,MP:0006415,MP:0003642 ORPHA:432 Normosmic Congenital Hypogonadotropic Hypogonadism WDR11 Wdr11 het early 28.405 HP:0002231,HP:0003187,HP:0000716 MP:0000367,MP:0001417 ORPHA:432 Normosmic Congenital Hypogonadotropic Hypogonadism WDR11 Wdr11 het late 28.24 HP:0000044,HP:0000134,HP:0011961,HP:0000028,HP:0003187,HP:0000013,HP:0000027,HP:0008724,HP:0000026,HP:0000054,HP:0008734 MP:0003068,MP:0002135,MP:0002997,MP:0003642 ORPHA:432 Normosmic Congenital Hypogonadotropic Hypogonadism WDR11 Wdr11 hom early 46.33 HP:0000044,HP:0000134,HP:0011961,HP:0000028,HP:0000869,HP:0030019,HP:0000013,HP:0000027,HP:0000786,HP:0008724,HP:0000802,HP:0000026,HP:0000054,HP:0008734 MP:0009709,MP:0001925,MP:0001120 ORPHA:432 Normosmic Congenital Hypogonadotropic Hypogonadism WDR11 Wdr11 hom late 30.785 HP:0000044,HP:0000134,HP:0011961,HP:0000028,HP:0008187,HP:0003187,HP:0008197,HP:0000054,HP:0000013,HP:0000027,HP:0008724,HP:0000823,HP:0000026,HP:0040171,HP:0008734 MP:0005313,MP:0002997,MP:0003642 ORPHA:432 Normosmic Congenital Hypogonadotropic Hypogonadism NHLH2 Nhlh2 hom early 47.47 HP:0000938,HP:0003782,HP:0000044,HP:0000134,HP:0011961,HP:0000028,HP:0002761,HP:0000939,HP:0000869,HP:0030019,HP:0000786,HP:0000027,HP:0000802,HP:0008724,HP:0012385,HP:0000026,HP:0000054,HP:0008734 MP:0000063,MP:0001926,MP:0000538,MP:0003961,MP:0001925,MP:0010124 ORPHA:432 Normosmic Congenital Hypogonadotropic Hypogonadism TACR3 Tacr3 hom early 44.99 HP:0000938,HP:0000044,HP:0000134,HP:0011961,HP:0000028,HP:0002761,HP:0000939,HP:0000869,HP:0030019,HP:0000786,HP:0000027,HP:0000802,HP:0008724,HP:0012385,HP:0000026,HP:0008734 MP:0010024,MP:0000063,MP:0001926,MP:0010124 ORPHA:432 Normosmic Congenital Hypogonadotropic Hypogonadism SPRY4 Spry4 hom early 23.845 HP:0012385 MP:0002544,MP:0002764,MP:0002110 ORPHA:434179 Orofaciodigital Syndrome Type 14 C2CD3 C2cd3 het early 14.735 HP:0008689,HP:0000039 MP:0011874,MP:0001120 ORPHA:435628 Keppen-Lubinsky Syndrome KCNJ6 Kcnj6 hom early 18.35 HP:0002179 MP:0001523 ORPHA:435651 Cidec-Related Familial Partial Lipodystrophy CIDEC Cidec hom early 43.265 HP:0003635,HP:0002155,HP:0009125,HP:0000831,HP:0009017,HP:0000292 MP:0002966,MP:0005178,MP:0013279,MP:0010025 ORPHA:435660 Lipe-Related Familial Partial Lipodystrophy LIPE Lipe hom early 37.1 HP:0002240,HP:0030685,HP:0003292,HP:0000855,HP:0000831,HP:0000876 MP:0000274,MP:0001925,MP:0003917,MP:0002079 ORPHA:435934 Cog2-Cdg COG2 Cog2 het early 35.21 HP:0010837,HP:0011967 MP:0005632,MP:0001554 ORPHA:436182 Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome NSMCE2 Nsmce2 het embryo 20.48 HP:0008890 MP:0003984 ORPHA:436182 Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome NSMCE2 Nsmce2 hom embryo 19.425 HP:0008890 MP:0003984 ORPHA:436252 Combined Immunodeficiency-Enteropathy Spectrum PI4KA Pi4ka het early 24.81 HP:0005224,HP:0001890,HP:0000778,HP:0100592 MP:0000220,MP:0003131,MP:0002608 ORPHA:436252 Combined Immunodeficiency-Enteropathy Spectrum TTC7A Ttc7 het early 29.81 HP:0001539,HP:0002223,HP:0008404,HP:0008070,HP:0002293 MP:0000367,MP:0010024,MP:0002075 ORPHA:438274 Gcgr-Related Hyperglucagonemia GCGR Gcgr hom early 38.575 HP:0000819,HP:0030688,HP:0030404 MP:0005292,MP:0002727,MP:0013278 ORPHA:44 Neonatal Adrenoleukodystrophy PEX3 Pex3 hom early 31.995 HP:0000518 MP:0001312,MP:0005542 ORPHA:44 Neonatal Adrenoleukodystrophy PEX26 Pex26 het early 15.58 HP:0001392 MP:0000691 ORPHA:44 Neonatal Adrenoleukodystrophy PEX14 Pex14 het early 29.105 HP:0000518 MP:0011960 ORPHA:44 Neonatal Adrenoleukodystrophy PEX6 Pex6 het early 54.37 HP:0007703,HP:0000518,HP:0000648 MP:0001312,MP:0008259,MP:0002792,MP:0001322,MP:0001304,MP:0001307,MP:0010097,MP:0006243,MP:0004222 ORPHA:44 Neonatal Adrenoleukodystrophy PEX1 Pex1 het early 36.23 HP:0001392 MP:0000598 ORPHA:440354 Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome COL11A1 Col11a1 hom embryo 50.65 HP:0003097,HP:0008905,HP:0000947,HP:0002983,HP:0003016,HP:0000175,HP:0002980,HP:0000162,HP:0001156 MP:0009908,MP:0000111,MP:0002109 ORPHA:440437 Familial Colorectal Cancer Type X RPS20 Rps20 het early 30.58 HP:0002354,HP:0000737,HP:0007018,HP:0000716 MP:0001417 ORPHA:442835 Non-Specific Early-Onset Epileptic Encephalopathy PPP3CA Ppp3ca hom early 24.165 HP:0001508 MP:0001260 ORPHA:442835 Non-Specific Early-Onset Epileptic Encephalopathy GRIN2D Grin2d hom early 16.7 HP:0001508 MP:0003961 ORPHA:442835 Non-Specific Early-Onset Epileptic Encephalopathy PACS2 Pacs2 hom early 27.92 HP:0001337 MP:0001488 ORPHA:442835 Non-Specific Early-Onset Epileptic Encephalopathy CACNA1B Cacna1b hom early 45.26 HP:0001251,HP:0100710,HP:0002317,HP:0007018,HP:0002355,HP:0001268 MP:0020870,MP:0001364,MP:0001415,MP:0001399,MP:0001392,MP:0001406 ORPHA:442835 Non-Specific Early-Onset Epileptic Encephalopathy DHDDS Dhdds het early 49.67 HP:0011443,HP:0001251,HP:0004305,HP:0100710,HP:0001337,HP:0002063,HP:0001336,HP:0007018,HP:0001257,HP:0002509 MP:0000745,MP:0002797 ORPHA:442835 Non-Specific Early-Onset Epileptic Encephalopathy FGF12 Fgf12 hom early 26.815 HP:0007018,HP:0100710 MP:0020870 ORPHA:442835 Non-Specific Early-Onset Epileptic Encephalopathy SYNJ1 Synj1 het early 48.81 HP:0001251,HP:0011443,HP:0004305,HP:0001337,HP:0002063,HP:0000648,HP:0001336,HP:0001257,HP:0000546,HP:0002509 MP:0000745,MP:0001289 ORPHA:442835 Non-Specific Early-Onset Epileptic Encephalopathy NTRK2 Ntrk2 het early 16.77 HP:0001508 MP:0003960 ORPHA:442835 Non-Specific Early-Onset Epileptic Encephalopathy ATP1A3 Atp1a3 het early 43.875 HP:0001251,HP:0100710,HP:0002317,HP:0007018,HP:0002355,HP:0001268 MP:0001399,MP:0001392,MP:0001364,MP:0001415 ORPHA:442835 Non-Specific Early-Onset Epileptic Encephalopathy KCNB1 Kcnb1 hom early 45.165 HP:0001251,HP:0100710,HP:0002317,HP:0007018,HP:0002355,HP:0001268,HP:0001508 MP:0001415,MP:0001399,MP:0001392,MP:0003960,MP:0001406 ORPHA:442835 Non-Specific Early-Onset Epileptic Encephalopathy DNM1 Dnm1 het embryo 38.115 HP:0001273,HP:0002059,HP:0000252 MP:0000433 ORPHA:442835 Non-Specific Early-Onset Epileptic Encephalopathy DNM1 Dnm1 hom embryo 38.115 HP:0001273,HP:0002059,HP:0000252 MP:0000433 ORPHA:442835 Non-Specific Early-Onset Epileptic Encephalopathy DALRD3 Dalrd3 hom early 26.88 HP:0007018,HP:0100710 MP:0020870 ORPHA:442835 Non-Specific Early-Onset Epileptic Encephalopathy CNKSR2 Cnksr2 hom early 29.98 HP:0001268,HP:0007018 MP:0001415 ORPHA:442835 Non-Specific Early-Onset Epileptic Encephalopathy ARV1 Arv1 hom early 41.425 HP:0100710,HP:0000648,HP:0010844,HP:0002521,HP:0007018 MP:0001399,MP:0004738,MP:0002797 ORPHA:442835 Non-Specific Early-Onset Epileptic Encephalopathy GABRA2 Gabra2 hom early 44.66 HP:0001251,HP:0100710,HP:0001337,HP:0002317,HP:0007018,HP:0002355,HP:0001268 MP:0002797,MP:0001402,MP:0001363,MP:0001513,MP:0001399,MP:0001417 ORPHA:442835 Non-Specific Early-Onset Epileptic Encephalopathy GABRA2 Gabra2 hom late 35.66 HP:0001251,HP:0001337,HP:0002317,HP:0002355,HP:0007018,HP:0001268,HP:0001508 MP:0003960,MP:0001513,MP:0001402,MP:0001417 ORPHA:442835 Non-Specific Early-Onset Epileptic Encephalopathy GABRA2 Gabra2 hom middle 28.875 HP:0001337 MP:0001513 ORPHA:442835 Non-Specific Early-Onset Epileptic Encephalopathy HCN1 Hcn1 hom early 56.01 HP:0001251,HP:0011443,HP:0004305,HP:0001337,HP:0002063,HP:0002317,HP:0000648,HP:0002521,HP:0010844,HP:0001336,HP:0002355,HP:0007018,HP:0001268,HP:0001257,HP:0002509 MP:0001402,MP:0000745,MP:0001406,MP:0004738,MP:0001392,MP:0001417 ORPHA:442835 Non-Specific Early-Onset Epileptic Encephalopathy CACNA1A Cacna1a het early 27.655 HP:0007018,HP:0100710 MP:0020421 ORPHA:442835 Non-Specific Early-Onset Epileptic Encephalopathy CACNA2D1 Cacna2d1 hom early 36.33 HP:0001251,HP:0100710,HP:0001337,HP:0002317,HP:0002355,HP:0007018,HP:0001268 MP:0009453,MP:0001402,MP:0020420,MP:0001489,MP:0020421,MP:0001417 ORPHA:442835 Non-Specific Early-Onset Epileptic Encephalopathy ATP6V1A Atp6v1a het early 38.59 HP:0001268,HP:0007018,HP:0000648,HP:0000546 MP:0003733,MP:0001417 ORPHA:442835 Non-Specific Early-Onset Epileptic Encephalopathy AP3B2 Ap3b2 hom early 51.355 HP:0011443,HP:0001251,HP:0004305,HP:0001337,HP:0002063,HP:0002317,HP:0001336,HP:0002355,HP:0001257,HP:0002509 MP:0000745,MP:0001392,MP:0001406 ORPHA:442835 Non-Specific Early-Onset Epileptic Encephalopathy ACTL6B Actl6b het early 41.425 HP:0100710,HP:0000648,HP:0010844,HP:0002521,HP:0007018 MP:0001399,MP:0004738 ORPHA:442835 Non-Specific Early-Onset Epileptic Encephalopathy GABRG2 Gabrg2 het early 25.525 HP:0000648,HP:0000546 MP:0001289 ORPHA:442835 Non-Specific Early-Onset Epileptic Encephalopathy SZT2 Szt2 het early 35.875 HP:0000648,HP:0000546 MP:0003733 ORPHA:442835 Non-Specific Early-Onset Epileptic Encephalopathy FBXO28 Fbxo28 het early 26.64 HP:0007018,HP:0100710 MP:0020870 ORPHA:443167 Nut Midline Carcinoma NUTM1 Nutm1 hom early 16.895 HP:0001909 MP:0005561,MP:0010067 ORPHA:444 Marie Unna Hereditary Hypotrichosis HR Hr hom early 29.185 HP:0002209,HP:0001596,HP:0200102,HP:0002208,HP:0100840 MP:0002098,MP:0000367,MP:0001284 ORPHA:444077 Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome AFF4 Aff4 het early 32.245 HP:0000047,HP:0000085,HP:0000076,HP:0004602,HP:0003468 MP:0002135,MP:0002759,MP:0002989 ORPHA:444077 Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome AFF4 Aff4 hom embryo 15.99 HP:0004322 MP:0003984 ORPHA:44890 Gastrointestinal Stromal Tumor SDHC Sdhc het early 20.03 HP:0001903 MP:0005505 ORPHA:44890 Gastrointestinal Stromal Tumor SDHA Sdha het early 18.62 HP:0002015 MP:0020870 ORPHA:44890 Gastrointestinal Stromal Tumor SDHB Sdhb het early 29.52 HP:0001903 MP:0005642,MP:0000222 ORPHA:45 Adenosine Monophosphate Deaminase Deficiency AMPD3 Ampd3 hom early 24.395 HP:0008331 MP:0010093,MP:0005628 ORPHA:454840 Nthl1-Related Attenuated Familial Adenomatous Polyposis NTHL1 Nthl1 hom early 17.09 HP:0006725 MP:0000601,MP:0000689,MP:0000691,MP:0000598 ORPHA:457 Harlequin Ichthyosis ABCA12 Abca12 hom embryo 32.27 HP:0001944 MP:0001785 ORPHA:457050 Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance CHCHD10 Chchd10 hom early 27.885 HP:0040014,HP:0008180 MP:0001147,MP:0001146,MP:0001566 ORPHA:457050 Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance CHCHD10 Chchd10 hom early 29.465 HP:0008180 MP:0005553,MP:0005565,MP:0005627 ORPHA:457359 Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome HERC1 Herc1 hom early 36.8 HP:0000368,HP:0001388,HP:0001520,HP:0001376,HP:0000400,HP:0001533,HP:0001998 MP:0000063,MP:0002079,MP:0013279,MP:0003961,MP:0004738,MP:0005293,MP:0005560 ORPHA:458798 Spinocerebellar Ataxia Type 41 TRPC3 Trpc3 het early 42.845 HP:0002066 MP:0003313,MP:0001406 ORPHA:458803 Spinocerebellar Ataxia Type 42 CACNA1G Cacna1g hom early 28.35 HP:0000716 MP:0001415 ORPHA:459056 Autosomal Recessive Spastic Paraplegia Type 75 MAG Mag hom early 30.445 HP:0012511,HP:0001310,HP:0030187 MP:0001489,MP:0001402,MP:0004738 ORPHA:464288 Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome PRMT7 Prmt7 hom early 16.98 HP:0001513 MP:0003961 ORPHA:464738 Basel-Vanagaite-Smirin-Yosef Syndrome MED25 Med25 het early 29.395 HP:0006101,HP:0000023,HP:0001845,HP:0002540,HP:0009468,HP:0004691,HP:0002355,HP:0000369,HP:0010186,HP:0010557,HP:0030084,HP:0001761,HP:0009471,HP:0001181 MP:0004738,MP:0001402,MP:0010024,MP:0002764 ORPHA:465508 Symptomatic Form Of Hfe-Related Hemochromatosis BMP6 Bmp6 hom early 51.605 HP:0030153,HP:0002240,HP:0001409,HP:0001744,HP:0001635,HP:0003281,HP:0012463,HP:0001824,HP:0001638,HP:0001394,HP:0001402,HP:0011675,HP:0011031,HP:0030848,HP:0000029,HP:0001254 MP:0005564,MP:0001944,MP:0005343,MP:0005333,MP:0002941,MP:0000613,MP:0002590,MP:0005561,MP:0001402,MP:0005641,MP:0001262,MP:0008810 ORPHA:466650 Exercise-Induced Malignant Hyperthermia RYR1 Ryr1 het early 23.28 HP:0001873,HP:0012417 MP:0004952,MP:0010378 ORPHA:468631 Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency RTTN Rttn het late 26.375 HP:0000047,HP:0001363,HP:0000122,HP:0030260,HP:0000125,HP:0002247 MP:0000470,MP:0011874,MP:0010124 ORPHA:468631 Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency RTTN Rttn hom embryo 29.34 HP:0001511,HP:0003510 MP:0001697,MP:0003984 ORPHA:468699 Slc39A8-Cdg SLC39A8 Slc39a8 het early 17.375 HP:0032098,HP:0008277 MP:0001552 ORPHA:468726 Severe Primary Trimethylaminuria FMO3 Fmo3 hom early 47.885 HP:0008770,HP:0000718 MP:0001399 ORPHA:468726 Severe Primary Trimethylaminuria FMO3 Fmo3 hom late 19.44 HP:0003614 MP:0002135 ORPHA:47 X-Linked Agammaglobulinemia BTK Btk hem early 36.85 HP:0100838,HP:0001873,HP:0001903,HP:0001875 MP:0008211,MP:0008074,MP:0002875,MP:0008078 ORPHA:470 Lysinuric Protein Intolerance SLC7A7 Slc7a7 het early 13.94 HP:0001508 MP:0003960 ORPHA:474 Jeune Syndrome IFT80 Ift80 het early 43.425 HP:0001770,HP:0002983,HP:0001162,HP:0001830,HP:0010579,HP:0002644,HP:0001773,HP:0000944,HP:0001156 MP:0000552,MP:0005108 ORPHA:474 Jeune Syndrome IFT80 Ift80 hom early 50.57 HP:0001770,HP:0001162,HP:0001830,HP:0010579,HP:0002644,HP:0001773,HP:0000944,HP:0001156 MP:0004509 ORPHA:474 Jeune Syndrome IFT172 Ift172 het early 45.975 HP:0007703,HP:0001770,HP:0002983,HP:0001162,HP:0001830,HP:0010579,HP:0002644,HP:0001773,HP:0000944,HP:0001156 MP:0010097,MP:0002110 ORPHA:474 Jeune Syndrome IFT172 Ift172 hom embryo 19.485 HP:0004322 MP:0003984 ORPHA:474 Jeune Syndrome DYNC2I1 Dync2i1 het early 18.445 HP:0000112,HP:0000083,HP:0000090 MP:0011874 ORPHA:474 Jeune Syndrome DYNC2I1 Dync2i1 hom embryo 19.78 HP:0004322 MP:0003984 ORPHA:475 Joubert Syndrome B9D1 B9d1 het early 28.005 HP:0001337 MP:0001486,MP:0005316 ORPHA:475 Joubert Syndrome MKS1 Mks1 het early 10.565 HP:0002553 MP:0000579 ORPHA:475 Joubert Syndrome PIBF1 Pibf1 het early 19.37 HP:0001696 MP:0002833 ORPHA:475 Joubert Syndrome PIBF1 Pibf1 hom embryo 34.08 HP:0001696,HP:0002084,HP:0000238 MP:0000269,MP:0000266,MP:0001697,MP:0002151,MP:0003720,MP:0001700,MP:0003984 ORPHA:475 Joubert Syndrome INPP5E Inpp5e hom embryo 42.03 HP:0002084,HP:0001320,HP:0000238,HP:0001161,HP:0001829 MP:0000562,MP:0001697,MP:0002109,MP:0003720,MP:0000841 ORPHA:475 Joubert Syndrome SUFU Sufu het early 27.74 HP:0001337,HP:0002251 MP:0000470,MP:0001488 ORPHA:475 Joubert Syndrome SUFU Sufu hom embryo 36.93 HP:0002084,HP:0000238,HP:0001161,HP:0001829 MP:0001722,MP:0003232,MP:0006108,MP:0003864,MP:0001697,MP:0004258,MP:0005650,MP:0003720,MP:0003984 ORPHA:475 Joubert Syndrome IFT74 Ift74 hom early 27.115 HP:0001337 MP:0001513 ORPHA:475 Joubert Syndrome TCTN3 Tctn3 hom embryo 39.095 HP:0002084,HP:0001161,HP:0001829 MP:0000562,MP:0001697 ORPHA:475 Joubert Syndrome TMEM237 Tmem237 het early 24.29 HP:0002553,HP:0001696,HP:0001161,HP:0001829,HP:0000864 MP:0001147,MP:0000274,MP:0000266,MP:0002768,MP:0000627,MP:0000639,MP:0004357 ORPHA:475 Joubert Syndrome KATNIP Katnip het early 29.095 HP:0000864,HP:0001251,HP:0000612,HP:0001288 MP:0001304,MP:0000639,MP:0001402 ORPHA:475 Joubert Syndrome TCTN1 Tctn1 het embryo 44.4 HP:0002084,HP:0001320,HP:0000238,HP:0007370,HP:0001161,HP:0001829,HP:0004422,HP:0002126 MP:0003054,MP:0000562,MP:0000564,MP:0000433 ORPHA:475 Joubert Syndrome TCTN1 Tctn1 hom embryo 44.4 HP:0002084,HP:0001320,HP:0000238,HP:0007370,HP:0001161,HP:0001829,HP:0004422,HP:0002126 MP:0003054,MP:0000562,MP:0000564,MP:0000433 ORPHA:475 Joubert Syndrome HYLS1 Hyls1 het early 21.9 HP:0001696,HP:0001161,HP:0001829 MP:0004357,MP:0002833 ORPHA:475 Joubert Syndrome HYLS1 Hyls1 hom embryo 20.84 HP:0001696,HP:0002084 MP:0000269,MP:0003984,MP:0001700,MP:0001697 ORPHA:475 Joubert Syndrome TOGARAM1 Togaram1 hom embryo 38.565 HP:0002084,HP:0001161,HP:0001829 MP:0000562,MP:0005650 ORPHA:477774 Combined Oxidative Phosphorylation Defect Type 27 CARS2 Cars2 het early 28.725 HP:0007351 MP:0001513 ORPHA:477993 Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome KDM1A Kdm1a het early 19.125 HP:0000041,HP:0001655,HP:0000047 MP:0002188,MP:0002989 ORPHA:478 Kallmann Syndrome CHD7 Chd7 het early 27.755 HP:0001251,HP:0001513,HP:0001288 MP:0003961,MP:0003313,MP:0001262 ORPHA:478 Kallmann Syndrome FGFR1 Fgfr1 hom embryo 15.255 HP:0000823 MP:0003984 ORPHA:478 Kallmann Syndrome CCDC141 Ccdc141 hom early 25.39 HP:0001251,HP:0001288 MP:0001402 ORPHA:478 Kallmann Syndrome WDR11 Wdr11 het early 14.655 HP:0003187 MP:0000367 ORPHA:478 Kallmann Syndrome WDR11 Wdr11 het late 27.845 HP:0008736,HP:0000044,HP:0000104,HP:0000028,HP:0003187,HP:0000054,HP:0000830,HP:0000008,HP:0008734 MP:0003068,MP:0002135,MP:0002997,MP:0003642 ORPHA:478 Kallmann Syndrome WDR11 Wdr11 hom early 42.2 HP:0030016,HP:0008736,HP:0000044,HP:0000028,HP:0000144,HP:0000786,HP:0100639,HP:0000054,HP:0000008,HP:0008734 MP:0009709,MP:0001925,MP:0001120 ORPHA:478 Kallmann Syndrome WDR11 Wdr11 hom late 27.66 HP:0003164,HP:0008736,HP:0000044,HP:0000028,HP:0003187,HP:0000054,HP:0000823,HP:0000830,HP:0000008,HP:0008734 MP:0005313,MP:0002997,MP:0003642 ORPHA:478 Kallmann Syndrome TACR3 Tacr3 hom early 40.71 HP:0030016,HP:0000044,HP:0002757,HP:0000028,HP:0000144,HP:0000786,HP:0004349,HP:0100639,HP:0008734 MP:0000063,MP:0001926,MP:0010124 ORPHA:478 Kallmann Syndrome HESX1 Hesx1 hom embryo 36.85 HP:0009804,HP:0000175 MP:0000111 ORPHA:478 Kallmann Syndrome SPRY4 Spry4 hom early 29.455 HP:0001763,HP:0001761,HP:0000508 MP:0005287,MP:0002764 ORPHA:480536 Msh3-Related Attenuated Familial Adenomatous Polyposis MSH3 Msh3 hom early 29.61 HP:0000107 MP:0003068,MP:0002135 ORPHA:481152 Pycr2-Related Microcephaly-Progressive Leukoencephalopathy PYCR2 Pycr2 hom early 20.57 HP:0001371,HP:0001382,HP:0005072 MP:0000063 ORPHA:487796 Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome CDC42 Cdc42 het early 27 HP:0000648,HP:0000047,HP:0000126,HP:0000122 MP:0003068,MP:0001325 ORPHA:487825 Pierpont Syndrome TBL1XR1 Tbl1xr1 het early 14.405 HP:0009890 MP:0001284 ORPHA:487825 Pierpont Syndrome TBL1XR1 Tbl1xr1 het late 20.255 HP:0000028 MP:0004832 ORPHA:487825 Pierpont Syndrome TBL1XR1 Tbl1xr1 hom early 23.54 HP:0000400,HP:0000358,HP:0009909,HP:0000365 MP:0004738 ORPHA:48818 Aceruloplasminemia CP Cp hom early 45.57 HP:0005505,HP:0010837,HP:0011967,HP:0040303,HP:0003281,HP:0025498,HP:0004840,HP:0012465 MP:0005642,MP:0005562,MP:0004151,MP:0002874,MP:0002591 ORPHA:488613 Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome GNB1 Gnb1 het early 23.695 HP:0002540 MP:0002574 ORPHA:488642 Telo2-Related Intellectual Disability-Neurodevelopmental Disorder TELO2 Telo2 het early 12.33 HP:0003273,HP:0006380 MP:0010024 ORPHA:488650 Distal Myopathy, Tateyama Type CAV3 Cav3 hom early 50.81 HP:0003124,HP:0040081 MP:0000182 ORPHA:494526 Infantile-Onset Generalized Dyskinesia With Orofacial Involvement PDE10A Pde10a hom early 32.915 HP:0002317 MP:0001402 ORPHA:495818 9Q33.3Q34.11 Microdeletion Syndrome STXBP1 Stxbp1 het early 20.655 HP:0000377,HP:0000369,HP:0002015 MP:0001399,MP:0004738,MP:0002797 ORPHA:495818 9Q33.3Q34.11 Microdeletion Syndrome STXBP1 Stxbp1 hom embryo 26.18 HP:0000421,HP:0001009 MP:0001914 ORPHA:496689 Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome KY Ky hom early 45.54 HP:0002061,HP:0030051,HP:0003487,HP:0007020 MP:0000745,MP:0001406 ORPHA:500095 Tall Stature-Intellectual Disability-Renal Anomalies Syndrome FIBP Fibp het early 18.6 HP:0410255,HP:0410252 MP:0005561,MP:0002875 ORPHA:500159 Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom RAC1 Rac1 het early 42.615 HP:0000819,HP:0001629,HP:0001647,HP:0000047,HP:0000028,HP:0000733,HP:0001627,HP:0001655 MP:0002188,MP:0001147,MP:0000266,MP:0002989,MP:0001399,MP:0001146 ORPHA:500533 Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome STRADA Strada hom embryo 28.025 HP:0000154,HP:0000194,HP:0010804 MP:0009908,MP:0000111 ORPHA:500545 Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract NACC1 Nacc1 hom early 30.425 HP:0002521 MP:0004738 ORPHA:502423 Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome MSTO1 Msto1 het early 18.59 HP:0008180,HP:0000870 MP:0001552,MP:0002059 ORPHA:502434 Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome STAG1 Stag1 het early 21.555 HP:0000028,HP:0000050 MP:0009084 ORPHA:502434 Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome STAG1 Stag1 het late 26.91 HP:0000028,HP:0000085,HP:0000050 MP:0002135,MP:0009552,MP:0002997,MP:0002989 ORPHA:502434 Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome STAG1 Stag1 hom embryo 33.76 HP:0001511,HP:0004322 MP:0003984 ORPHA:503 Larsen Syndrome FLNB Flnb het early 22.2 HP:0005692,HP:0008755,HP:0001363 MP:0000063,MP:0010124 ORPHA:505216 3-Methylglutaconic Aciduria Type 9 TIMM50 Timm50 het early 29.48 HP:0001508,HP:0000648,HP:0001533 MP:0003960,MP:0003731,MP:0011965 ORPHA:505248 Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders VPS33A Vps33a het early 37.05 HP:0001433,HP:0001903,HP:0001882,HP:0001627,HP:0001639,HP:0005528,HP:0001631,HP:0000105,HP:0001655,HP:0001873 MP:0004952,MP:0002833,MP:0010067,MP:0000219,MP:0005016 ORPHA:505248 Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders VPS33A Vps33a het late 48.81 HP:0000093,HP:0002159,HP:0001433,HP:0000100,HP:0012597,HP:0003541,HP:0000509,HP:0000105 MP:0003068,MP:0001304,MP:0011874 ORPHA:508093 Mepan Syndrome MECR Mecr het early 44.57 HP:0002530,HP:0002451,HP:0001251,HP:0032005,HP:0001288,HP:0001332,HP:0012179 MP:0005316,MP:0001406 ORPHA:508498 Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome PUF60 Puf60 het early 20.42 HP:0000612 MP:0011962 ORPHA:508533 Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome EXTL3 Extl3 het late 39.76 HP:0002240,HP:0005415,HP:0032061,HP:0000085,HP:0005403,HP:0005407,HP:0001888 MP:0000691,MP:0000599,MP:0000598,MP:0002989,MP:0000689,MP:0002135 ORPHA:508542 Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome MYSM1 Mysm1 het early 32.125 HP:0001873,HP:0001896,HP:0001882,HP:0010976,HP:0001875,HP:0001888,HP:0001903 MP:0002590 ORPHA:508542 Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome MYSM1 Mysm1 hom early 48.685 HP:0005792,HP:0010049,HP:0001873,HP:0000765,HP:0001896,HP:0004991,HP:0001882,HP:0012490,HP:0010976,HP:0005528,HP:0001875,HP:0000916,HP:0001888,HP:0001903,HP:0001156 MP:0000150,MP:0000572,MP:0002590,MP:0008502,MP:0000556,MP:0000322,MP:0005564,MP:0005017,MP:0005641,MP:0002875,MP:0002874,MP:0004509,MP:0002492,MP:0005015,MP:0010024,MP:0008501,MP:0000221,MP:0005505,MP:0008211,MP:0008074,MP:0000208 ORPHA:50944 Schöpf-Schulz-Passarge Syndrome WNT10A Wnt10a hom early 38.59 HP:0008070,HP:0001596,HP:0000982,HP:0100840 MP:0002764,MP:0000367,MP:0002075 ORPHA:50945 Blomstrand Lethal Chondrodysplasia PTH1R Pth1r het early 24.955 HP:0011001 MP:0010124 ORPHA:51 Aicardi-Goutières Syndrome ADAR Adar het early 24.145 HP:0000819 MP:0005560 ORPHA:51 Aicardi-Goutières Syndrome ADAR Adar hom embryo 29.88 HP:0000958 MP:0003717 ORPHA:51 Aicardi-Goutières Syndrome RNASEH2A Rnaseh2a het early 36.305 HP:0001332,HP:0004809,HP:0001640,HP:0001337,HP:0005550,HP:0001433,HP:0006579,HP:0000054 MP:0001126,MP:0005562,MP:0005505,MP:0004952,MP:0001488,MP:0002591,MP:0000220,MP:0002599 ORPHA:510 Lesch-Nyhan Syndrome HPRT1 Hprt1 hem early 43.83 HP:0002149,HP:0001903 MP:0003179,MP:0002590,MP:0002875,MP:0001556 ORPHA:510 Lesch-Nyhan Syndrome HPRT1 Hprt1 hom early 41.335 HP:0001903 MP:0002590,MP:0002875 ORPHA:51636 Whim Syndrome CXCR4 Cxcr4 het early 35.8 HP:0002840,HP:0011992,HP:0001875,HP:0030079,HP:0001888,HP:0011850 MP:0000691,MP:0005013,MP:0001148,MP:0000689,MP:0001146,MP:0000220,MP:0000218 ORPHA:520 Acute Promyelocytic Leukemia ZBTB16 Zbtb16 hom early 32.5 HP:0001876,HP:0100608,HP:0002039,HP:0001873,HP:0001974,HP:0002716,HP:0001824,HP:0001882,HP:0030955,HP:0001875,HP:0001903 MP:0001147,MP:0000689,MP:0001399,MP:0001146,MP:0000692,MP:0020421,MP:0003960 ORPHA:524 Li-Fraumeni Syndrome TP53 Trp53 hom early 19.795 HP:0006721,HP:0001909,HP:0004808 MP:0012362 ORPHA:52417 Malt Lymphoma FOXP1 Foxp1 het early 14.76 HP:0001824 MP:0003960 ORPHA:52429 Branchiootic Syndrome SIX1 Six1 het embryo 16.49 HP:0009795 MP:0003231,MP:0001711 ORPHA:52429 Branchiootic Syndrome SIX1 Six1 hom embryo 16.01 HP:0009795 MP:0001711,MP:0003984 ORPHA:528 Congenital Generalized Lipodystrophy PPARG Pparg het early 38.83 HP:0000819,HP:0009125,HP:0008887,HP:0000855,HP:0000842,HP:0001508 MP:0003961,MP:0013279,MP:0010024 ORPHA:528 Congenital Generalized Lipodystrophy BSCL2 Bscl2 hom early 59.22 HP:0001508,HP:0002155,HP:0000819,HP:0009125,HP:0008887,HP:0000855,HP:0012062,HP:0000842,HP:0001176,HP:0003124,HP:0001833,HP:0030796 MP:0002968,MP:0003795,MP:0002941,MP:0005343,MP:0000194,MP:0005568,MP:0005178,MP:0013279,MP:0010025,MP:0001566,MP:0001556,MP:0005292,MP:0005559,MP:0002764,MP:0003960,MP:0010124,MP:0002965 ORPHA:528 Congenital Generalized Lipodystrophy FOS Fos het early 35.655 HP:0008887,HP:0001508,HP:0009125 MP:0003961,MP:0010024 ORPHA:528 Congenital Generalized Lipodystrophy FOS Fos hom embryo 25.575 HP:0001635,HP:0001639 MP:0001914 ORPHA:528 Congenital Generalized Lipodystrophy CAV1 Cav1 hom early 51.41 HP:0002155,HP:0001635,HP:0003124,HP:0001639,HP:0030796 MP:0002626,MP:0005178,MP:0005140,MP:0001556 ORPHA:529665 Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome GPAA1 Gpaa1 het early 23.185 HP:0000648 MP:0002792 ORPHA:529962 17Q24.2 Microdeletion Syndrome BPTF Bptf het early 22.64 HP:0000470,HP:0003028,HP:0002650,HP:0002967,HP:0003019 MP:0004609 ORPHA:529970 Male Infertility Due To Acephalic Spermatozoa SUN5 Sun5 hom early 60.72 HP:0003251,HP:0000798,HP:0012869,HP:0012867,HP:0012207 MP:0001925 ORPHA:529970 Male Infertility Due To Acephalic Spermatozoa SUN5 Sun5 hom late 45.87 HP:0003251,HP:0000798,HP:0012869,HP:0012867,HP:0012207 MP:0001146,MP:0001148,MP:0002997 ORPHA:536 Systemic Lupus Erythematosus IRF5 Irf5 hom early 35.045 HP:0001882,HP:0001878,HP:0001873 MP:0010836,MP:0000221 ORPHA:536 Systemic Lupus Erythematosus SPP1 Spp1 hom early 15.325 HP:0030880,HP:0000822 MP:0006203 ORPHA:536 Systemic Lupus Erythematosus DNASE1 Dnase1 hom early 11.875 HP:0000790,HP:0000093,HP:0033726,HP:0012085 MP:0000538 ORPHA:536 Systemic Lupus Erythematosus KIAA0319L AU040320 hom early 27.185 HP:0001369,HP:0000488 MP:0001325,MP:0000063 ORPHA:536 Systemic Lupus Erythematosus KIAA0319L AU040320 hom late 30.985 HP:0001596,HP:0002072,HP:0000488,HP:0000716 MP:0001415,MP:0002075,MP:0001523,MP:0001325,MP:0001284 ORPHA:536 Systemic Lupus Erythematosus ITGAM Itgam hom early 27.035 HP:0001882,HP:0001878,HP:0001873 MP:0005561 ORPHA:536 Systemic Lupus Erythematosus TNIP1 Tnip1 hom early 47.41 HP:0001878,HP:0030880,HP:0002716,HP:0000716,HP:0001882,HP:0000822,HP:0001873 MP:0010506,MP:0012362,MP:0005561,MP:0003179,MP:0004952,MP:0005641,MP:0002875,MP:0002874,MP:0002606,MP:0010067,MP:0000208,MP:0000220,MP:0020421,MP:0002599,MP:0005016 ORPHA:536 Systemic Lupus Erythematosus STAT4 Stat4 hom early 13.66 HP:0000790,HP:0000093,HP:0033726,HP:0012085 MP:0002135,MP:0002989 ORPHA:536 Systemic Lupus Erythematosus PXK Pxk hom early 26.495 HP:0001882,HP:0001878,HP:0001873 MP:0005642 ORPHA:536532 Classical-Like Ehlers-Danlos Syndrome Type 2 AEBP1 Aebp1 het early 21.06 HP:0001698,HP:0001634 MP:0000274,MP:0000266 ORPHA:540 Familial Hemophagocytic Lymphohistiocytosis PRF1 Prf1 hom early 32.705 HP:0001744,HP:0001903,HP:0012156,HP:0001875,HP:0001873 MP:0005642 ORPHA:540 Familial Hemophagocytic Lymphohistiocytosis STX11 Stx11 hom early 30.395 HP:0002240,HP:0002155,HP:0001744,HP:0003281,HP:0001873,HP:0003073,HP:0012156,HP:0001875,HP:0012211,HP:0001903 MP:0005565,MP:0000274,MP:0005013,MP:0002833,MP:0002989,MP:0002135 ORPHA:54595 Craniopharyngioma CTNNB1 Ctnnb1 het early 19.63 HP:0002659 MP:0000062,MP:0002896 ORPHA:552 Mody PAX4 Pax4 het early 32.3 HP:0040217,HP:0030794 MP:0002968,MP:0005568 ORPHA:552 Mody PDX1 Pdx1 het early 47.265 HP:0008255,HP:0000831,HP:0001953,HP:0001952,HP:0003076,HP:0000825,HP:0003074,HP:0004924,HP:0040216,HP:0001998 MP:0005293 ORPHA:552 Mody HNF4A Hnf4a het early 33.68 HP:0040217,HP:0000488,HP:0030794 MP:0002792,MP:0005178,MP:0001556,MP:0010097,MP:0005344,MP:0001325,MP:0011964 ORPHA:552 Mody HNF4A Hnf4a het late 48.8 HP:0008255,HP:0000831,HP:0040214,HP:0001953,HP:0001952,HP:0003076,HP:0000825,HP:0003074,HP:0002594,HP:0004924,HP:0040216,HP:0001998 MP:0005292,MP:0005355 ORPHA:552 Mody HNF4A Hnf4a het middle 24 HP:0025502,HP:0001513,HP:0001520 MP:0001262 ORPHA:552 Mody KCNJ11 Kcnj11 hom early 50.75 HP:0040217,HP:0008255,HP:0000831,HP:0001953,HP:0001952,HP:0003076,HP:0000825,HP:0003074,HP:0004924,HP:0040216,HP:0001998 MP:0013278,MP:0005293,MP:0002874 ORPHA:552 Mody BLK Blk hom early 13.65 HP:0008255,HP:0000831,HP:0040214,HP:0001953,HP:0000825,HP:0002594,HP:0040216 MP:0001147,MP:0001146 ORPHA:552 Mody GCK Gck het early 56.125 HP:0040217,HP:0008255,HP:0000831,HP:0030794,HP:0001952,HP:0001953,HP:0003076,HP:0000825,HP:0003074,HP:0004924,HP:0040216,HP:0001998 MP:0002968,MP:0005559,MP:0013279,MP:0005293 ORPHA:552 Mody ABCC8 Abcc8 hom early 49.475 HP:0001520,HP:0025502,HP:0008255,HP:0000831,HP:0001513,HP:0001952,HP:0001953,HP:0003076,HP:0000825,HP:0003074,HP:0004924,HP:0040216,HP:0001998 MP:0003960,MP:0005293 ORPHA:557003 Oculoskeletodental Syndrome PIK3C2A Pik3c2a hom embryo 18.805 HP:0004322 MP:0003984 ORPHA:560 Marshall Syndrome COL11A1 Col11a1 hom embryo 41.82 HP:0000164,HP:0000179,HP:0000175,HP:0002857,HP:0000218,HP:0000343,HP:0000215 MP:0009908,MP:0000111,MP:0002109 ORPHA:562528 Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome NALCN Nalcn het embryo 41.735 HP:0001166,HP:0000252,HP:0001848,HP:0001181,HP:0000256,HP:0001762,HP:0012385,HP:0001193 MP:0000562,MP:0000564,MP:0000433 ORPHA:562528 Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome NALCN Nalcn hom embryo 41.735 HP:0001166,HP:0000252,HP:0001848,HP:0001181,HP:0000256,HP:0001762,HP:0012385,HP:0001193 MP:0000562,MP:0000564,MP:0000433 ORPHA:56304 Atelosteogenesis Type Ii SLC26A2 Slc26a2 hom embryo 30.49 HP:0002983,HP:0009803,HP:0001230,HP:0001193,HP:0010049,HP:0008905,HP:0012427,HP:0004991,HP:0006009,HP:0006375,HP:0003097,HP:0009824,HP:0000175,HP:0001776,HP:0012385,HP:0009826,HP:0006385,HP:0001156,HP:0100694,HP:0000219,HP:0100337,HP:0001852,HP:0001840,HP:0002857,HP:0000343,HP:0001234 MP:0009908,MP:0002109 ORPHA:56305 Atelosteogenesis Type Iii FLNB Flnb het early 18.23 HP:0008755,HP:0003902 MP:0000063,MP:0010124 ORPHA:563609 Isolated Anencephaly VANGL2 Vangl2 het early 25.945 HP:0009800 MP:0005559 ORPHA:563609 Isolated Anencephaly VANGL2 Vangl2 hom embryo 37.895 HP:0410030,HP:0001511 MP:0000111,MP:0003984 ORPHA:563612 Isolated Exencephaly VANGL2 Vangl2 het early 22.335 HP:0009800 MP:0005559 ORPHA:563612 Isolated Exencephaly VANGL2 Vangl2 hom embryo 33.62 HP:0002683,HP:0001360,HP:0005466 MP:0011495,MP:0000914 ORPHA:564 Meckel Syndrome TCTN3 Tctn3 hom embryo 49.015 HP:0002084,HP:0006487,HP:0000528,HP:0001177,HP:0001162,HP:0002323,HP:0001830,HP:0008053,HP:0000568 MP:0000562,MP:0001293,MP:0001697 ORPHA:564 Meckel Syndrome TMEM237 Tmem237 het early 39.82 HP:0001747,HP:0006487,HP:0010459,HP:0000532,HP:0100732,HP:0001746,HP:0000028,HP:0000037,HP:0001737,HP:0000648,HP:0001696,HP:0001177,HP:0001162,HP:0001830,HP:0000062 MP:0000702,MP:0001147,MP:0000274,MP:0000266,MP:0002339,MP:0002768,MP:0000627,MP:0001146,MP:0001325,MP:0004357,MP:0000639 ORPHA:564 Meckel Syndrome TCTN1 Tctn1 het early 17.89 HP:0000648 MP:0002699 ORPHA:564 Meckel Syndrome TCTN1 Tctn1 het embryo 54.76 HP:0002084,HP:0006487,HP:0000528,HP:0000252,HP:0001177,HP:0001162,HP:0000238,HP:0002323,HP:0007370,HP:0001830,HP:0008053,HP:0006870,HP:0000568,HP:0001305 MP:0000562,MP:0001297,MP:0001293,MP:0000564,MP:0000433,MP:0003054 ORPHA:564 Meckel Syndrome TCTN1 Tctn1 hom embryo 54.76 HP:0002084,HP:0006487,HP:0000528,HP:0000252,HP:0001177,HP:0001162,HP:0000238,HP:0002323,HP:0007370,HP:0001830,HP:0008053,HP:0006870,HP:0000568,HP:0001305 MP:0000562,MP:0001297,MP:0001293,MP:0000564,MP:0000433,MP:0003054 ORPHA:564 Meckel Syndrome CEP290 Cep290 het early 12.185 HP:0001746,HP:0001747 MP:0005642,MP:0005562 ORPHA:565 Menkes Disease ATP7A Atp7a hem early 38.485 HP:0008070,HP:0002224,HP:0005599 MP:0002075 ORPHA:565 Menkes Disease ATP7A Atp7a hem late 18.355 HP:0008070,HP:0002224,HP:0005599 MP:0000367 ORPHA:565 Menkes Disease ATP7A Atp7a hom early 38.485 HP:0008070,HP:0002224,HP:0005599 MP:0002075 ORPHA:565624 Combined Oxidative Phosphorylation Defect Type 39 GFM2 Gfm2 het early 11.54 HP:0000028 MP:0000639 ORPHA:567 22Q11.2 Deletion Syndrome HIRA Hira het early 19.785 HP:0001744,HP:0000778,HP:0001873 MP:0000221 ORPHA:567 22Q11.2 Deletion Syndrome ARVCF Arvcf hom early 38.055 HP:0000518,HP:0000047,HP:0001744,HP:0000089,HP:0005562,HP:0002901,HP:0000113,HP:0007018,HP:0000076,HP:0000778,HP:0000627,HP:0011496,HP:0001873 MP:0002968,MP:0001756,MP:0001303,MP:0001304,MP:0001399,MP:0000220 ORPHA:567 22Q11.2 Deletion Syndrome JMJD1C Jmjd1c het early 25.995 HP:0000518,HP:0000470,HP:0002650,HP:0000627,HP:0011496 MP:0003036,MP:0002546,MP:0001322 ORPHA:567 22Q11.2 Deletion Syndrome COMT Comt hom early 33.16 HP:0002901,HP:0007018,HP:0000716 MP:0020870,MP:0002941,MP:0001364,MP:0001566,MP:0005567,MP:0005419,MP:0001399 ORPHA:567 22Q11.2 Deletion Syndrome GP1BB Gp1bb hom early 41.595 HP:0000829,HP:0000836,HP:0000047,HP:0001872,HP:0001744,HP:0000028,HP:0000778,HP:0000130,HP:0001081,HP:0000821,HP:0001873 MP:0002590,MP:0001147,MP:0003179,MP:0001120,MP:0001146,MP:0009709,MP:0002599 ORPHA:567 22Q11.2 Deletion Syndrome RREB1 Rreb1 het early 47.605 HP:0000023,HP:0000682,HP:0001744,HP:0001513,HP:0000778,HP:0002901,HP:0001537,HP:0001508,HP:0001873 MP:0000195,MP:0002875,MP:0010025,MP:0002874,MP:0010067,MP:0005419,MP:0000208,MP:0003960,MP:0000218 ORPHA:567 22Q11.2 Deletion Syndrome TBX1 Tbx1 het early 33.885 HP:0000829,HP:0000028,HP:0001744,HP:0000648,HP:0000778,HP:0007018,HP:0000568,HP:0001081 MP:0001293,MP:0001944,MP:0001399,MP:0001289 ORPHA:567 22Q11.2 Deletion Syndrome TBX1 Tbx1 het embryo 38.36 HP:0002414,HP:0002435,HP:0007271,HP:0001537,HP:0000568 MP:0001297,MP:0001711 ORPHA:567 22Q11.2 Deletion Syndrome TBX1 Tbx1 hom embryo 29.515 HP:0004322,HP:0002414,HP:0001561,HP:0002435,HP:0007271,HP:0001537,HP:0001511 MP:0001785,MP:0001711,MP:0003984 ORPHA:568 Microphthalmia, Lenz Type NAA10 Naa10 hem early 38.35 HP:0000072,HP:0000047,HP:0008678,HP:0000028,HP:0000126 MP:0001147,MP:0003068,MP:0002989,MP:0002135,MP:0001146 ORPHA:568 Microphthalmia, Lenz Type NAA10 Naa10 hem late 30.125 HP:0000072,HP:0000047,HP:0008678,HP:0000028,HP:0000126 MP:0002059,MP:0002997,MP:0003068,MP:0002135,MP:0000639 ORPHA:568 Microphthalmia, Lenz Type NAA10 Naa10 hom early 16.935 HP:0000028,HP:0000047,HP:0100490 MP:0001120,MP:0010025 ORPHA:568 Microphthalmia, Lenz Type NAA10 Naa10 hom late 44.24 HP:0000072,HP:0000047,HP:0008678,HP:0000028,HP:0000568,HP:0000126 MP:0003068,MP:0001297,MP:0001126,MP:0002135 ORPHA:569 Familial Or Sporadic Hemiplegic Migraine PRRT2 Prrt2 hom early 29.49 HP:0001289 MP:0001454 ORPHA:570 Moebius Syndrome REV3L Rev3l het early 27.535 HP:0007957,HP:0002015 MP:0001399,MP:0001304 ORPHA:572 Immunodeficiency By Defective Expression Of Mhc Class Ii RFXANK Rfxank hom early 26.77 HP:0025347 MP:0002968 ORPHA:572013 Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome CEP85L Cep85l hom early 30.025 HP:0000011,HP:0000733,HP:0000609,HP:0002015 MP:0020870,MP:0001364,MP:0003068,MP:0004738,MP:0002135 ORPHA:576 Mucolipidosis Type Ii GNPTAB Gnptab het early 13.475 HP:0001712,HP:0001744,HP:0001433 MP:0003068 ORPHA:576 Mucolipidosis Type Ii GNPTAB Gnptab het late 41.32 HP:0001633,HP:0001744,HP:0001433,HP:0001638,HP:0001646,HP:0001712,HP:0001655 MP:0000702,MP:0002188,MP:0000691,MP:0000274,MP:0000266,MP:0004832,MP:0002339,MP:0000689 ORPHA:576 Mucolipidosis Type Ii GNPTAB Gnptab hom embryo 19.435 HP:0001537 MP:0004258,MP:0003231,MP:0001711 ORPHA:585 Multiple Sulfatase Deficiency SUMF1 Sumf1 het early 20.07 HP:0001744,HP:0002240 MP:0000274 ORPHA:586 Cystic Fibrosis SLC6A14 Slc6a14 hem early 27.66 HP:0012873 MP:0002631,MP:0004931 ORPHA:586 Cystic Fibrosis DCTN4 Dctn4 het early 16.955 HP:0002570 MP:0001554 ORPHA:586 Cystic Fibrosis GSTM3 Gstm5 hom early 24.175 HP:0000716 MP:0001417 ORPHA:586 Cystic Fibrosis SLC26A9 Slc26a9 het early 25.87 HP:0001392,HP:0000787,HP:0001394,HP:0001738 MP:0003068,MP:0002135,MP:0000691,MP:0000689 ORPHA:586 Cystic Fibrosis SLC11A1 Slc11a1 hom early 15.775 HP:0001392,HP:0001394,HP:0001738 MP:0000691,MP:0000689 ORPHA:586 Cystic Fibrosis KCNN4 Kcnn4 hom early 53.41 HP:0002910,HP:0012873,HP:0000246,HP:0004401,HP:0002024,HP:0002035,HP:0000716,HP:0001392,HP:0002020,HP:0001394,HP:0002570,HP:0001738 MP:0000601,MP:0000495,MP:0000691,MP:0002059,MP:0004952,MP:0001157,MP:0000598,MP:0001148,MP:0000689,MP:0009476,MP:0001146,MP:0009709,MP:0020421,MP:0002100,MP:0000492,MP:0001417 ORPHA:587 Muir-Torre Syndrome MLH1 Mlh1 hom early 15.525 HP:0002896,HP:0012114,HP:0009720,HP:0100684 MP:0001147,MP:0004952 ORPHA:588 Muscle-Eye-Brain Disease B3GALNT2 B3galnt2 hom embryo 15.74 HP:0002435 MP:0001697 ORPHA:589905 Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome PHIP Phip het early 41.71 HP:0000028,HP:0007018,HP:0100710 MP:0001399,MP:0002637 ORPHA:59181 Sorsby Pseudoinflammatory Fundus Dystrophy TIMP3 Timp3 hom early 64.365 HP:0001105,HP:0011506,HP:0007722,HP:0007754,HP:0031528,HP:0000533,HP:0000580,HP:0030491,HP:0000610,HP:0030625,HP:0030500,HP:0030602 MP:0001325,MP:0010097 ORPHA:599373 Stxbp1-Related Encephalopathy STXBP1 Stxbp1 het early 55.975 HP:0000752,HP:0011203,HP:0010841,HP:0011185,HP:0002521 MP:0001399,MP:0004738,MP:0002797 ORPHA:60033 Idiopathic Bronchiectasis SCNN1B Scnn1b het early 21.95 HP:0001217 MP:0004509 ORPHA:602 Gne Myopathy GNE Gne hom embryo 27.08 HP:0001638 MP:0000266 ORPHA:603 Distal Myopathy, Welander Type SQSTM1 Sqstm1 hom early 44.585 HP:0008180 MP:0002968,MP:0005179,MP:0000186,MP:0000183 ORPHA:610 Bethlem Myopathy COL6A3 Col6a3 hom early 16.025 HP:0003236 MP:0000182 ORPHA:618 Familial Melanoma BAP1 Bap1 het early 20.935 HP:0001595 MP:0002098 ORPHA:618 Familial Melanoma MC1R Mc1r hom early 35.48 HP:0001595,HP:0001480 MP:0002075 ORPHA:618 Familial Melanoma TERF2IP Terf2ip hom early 36.585 HP:0000958 MP:0001192 ORPHA:626 Large Congenital Melanocytic Nevus MC1R Mc1r hom early 32.3 HP:0001000,HP:0005600,HP:0001053,HP:0002230 MP:0002075 ORPHA:628 Diastrophic Dysplasia SLC26A2 Slc26a2 hom embryo 28.895 HP:0006487,HP:0100490,HP:0009623,HP:0002983,HP:0009773,HP:0009465,HP:0000175,HP:0009381,HP:0005916,HP:0000944 MP:0009908,MP:0002109 ORPHA:63273 Distal Myopathy With Posterior Leg And Anterior Hand Involvement FLNC Flnc hom embryo 31.05 HP:0001638 MP:0000266,MP:0000269 ORPHA:63442 Angel-Shaped Phalango-Epiphyseal Dysplasia GDF5 Gdf5 hom early 35.265 HP:0004220,HP:0005692,HP:0001385,HP:0005819,HP:0005930,HP:0008843,HP:0010034 MP:0000062,MP:0000572,MP:0000550,MP:0002110,MP:0000556 ORPHA:635 Neuroblastoma TOP2A Top2a het early 22.625 HP:0011976 MP:0002135 ORPHA:635 Neuroblastoma TOP2A Top2a het late 18.04 HP:0011976 MP:0011874 ORPHA:64 Alström Syndrome ALMS1 Alms1 hom early 19.33 HP:0003077,HP:0002155,HP:0001251 MP:0001392,MP:0008806 ORPHA:642 Hereditary Sensory And Autonomic Neuropathy Type 4 NTRK1 Ntrk1 het early 15.45 HP:0030757,HP:0025615,HP:0001903 MP:0002606 ORPHA:648 Noonan Syndrome LZTR1 Lztr1 het early 12.725 HP:0001743 MP:0010067 ORPHA:648 Noonan Syndrome CBL Cbl het early 23.62 HP:0011675,HP:0001641 MP:0002953,MP:0003896 ORPHA:648 Noonan Syndrome NRAS Nras het early 20.97 HP:0004209,HP:0002974,HP:0001156,HP:0000347 MP:0002764 ORPHA:648 Noonan Syndrome SPRED2 Spred2 hom early 38.15 HP:0002240,HP:0001641,HP:0001743,HP:0100763,HP:0000218 MP:0000702,MP:0000691,MP:0000274,MP:0000266,MP:0002591,MP:0000598,MP:0003068,MP:0010067,MP:0000689,MP:0003883 ORPHA:648 Noonan Syndrome RIT1 Rit1 hom early 21.39 HP:0002240,HP:0001743,HP:0011869 MP:0003068,MP:0010067,MP:0002599 ORPHA:648 Noonan Syndrome RRAS2 Rras2 hom early 22.655 HP:0001743,HP:0000044,HP:0000028 MP:0000709,MP:0008044,MP:0001120,MP:0000703,MP:0009709 ORPHA:65 Leber Congenital Amaurosis RPE65 Rpe65 hom early 43.25 HP:0000563,HP:0007703,HP:0012795,HP:0000518 MP:0001317,MP:0001325,MP:0006243 ORPHA:65 Leber Congenital Amaurosis SPATA7 Spata7 hom early 37.85 HP:0007703,HP:0012795 MP:0001325 ORPHA:65 Leber Congenital Amaurosis KCNJ13 Kcnj13 hom embryo 16.175 HP:0002084 MP:0001697 ORPHA:65 Leber Congenital Amaurosis IQCB1 Iqcb1 het early 51.115 HP:0000563,HP:0000518 MP:0011962 ORPHA:65 Leber Congenital Amaurosis RD3 Rd3 hom early 63.17 HP:0000563,HP:0007703,HP:0012795,HP:0000518 MP:0011960,MP:0003733,MP:0011965,MP:0003731,MP:0001325,MP:0011962 ORPHA:65 Leber Congenital Amaurosis CRX Crx hom early 34.935 HP:0007703,HP:0012795 MP:0001325 ORPHA:65 Leber Congenital Amaurosis GDF6 Gdf6 het early 50.955 HP:0002084,HP:0007703,HP:0012795 MP:0001325,MP:0008259,MP:0001891,MP:0010097 ORPHA:652 Multiple Endocrine Neoplasia Type 1 CDKN1A Cdkn1a hom early 24.14 HP:0008291,HP:0011759,HP:0030405,HP:0002666,HP:0002890,HP:0006767,HP:0500167,HP:0040085,HP:0000849,HP:0040306,HP:0100570,HP:0011761,HP:0006744,HP:0100522,HP:0030445,HP:0003118,HP:0011762,HP:0003144,HP:0006723,HP:0001579,HP:0000141,HP:0030404,HP:0000845,HP:0002893,HP:0012197,HP:0008200,HP:0003528,HP:0002894,HP:0000802,HP:0006780,HP:0011760,HP:0008208,HP:0000853 MP:0001147,MP:0001146,MP:0000691,MP:0000689 ORPHA:652 Multiple Endocrine Neoplasia Type 1 CDKN1B Cdkn1b hom early 38.035 HP:0002894,HP:0000736,HP:0003072,HP:0001289,HP:0030405,HP:0001293,HP:0012197,HP:0002797,HP:0100522,HP:0030445,HP:0004349,HP:0002659,HP:0003118,HP:0000716,HP:0002666,HP:0006723,HP:0001579,HP:0100570,HP:0030404 MP:0002968,MP:0008259,MP:0000063,MP:0004952,MP:0010124,MP:0002644,MP:0001417 ORPHA:65282 Carvajal Syndrome DSP Dsp hom embryo 27.33 HP:0001644 MP:0000266 ORPHA:654 Nephroblastoma TRIP13 Trip13 hom early 30.615 HP:0000526 MP:0005102 ORPHA:654 Nephroblastoma TRIP13 Trip13 hom late 28.155 HP:0000526,HP:0000822,HP:0001824 MP:0003961,MP:0001289,MP:0001303,MP:0010506 ORPHA:654 Nephroblastoma REST Rest het early 20.25 HP:0000822 MP:0005333 ORPHA:654 Nephroblastoma DIS3L2 Dis3l2 hom embryo 22.31 HP:0000822 MP:0001914 ORPHA:656 Genetic Steroid-Resistant Nephrotic Syndrome DAAM2 Daam2 hom early 29.275 HP:0003073 MP:0002968 ORPHA:656 Genetic Steroid-Resistant Nephrotic Syndrome COL4A3 Col4a3 hom early 37.055 HP:0001967,HP:0031504,HP:0000093,HP:0012579,HP:0012622,HP:0003774,HP:0000097,HP:0003073 MP:0008805,MP:0003917 ORPHA:656 Genetic Steroid-Resistant Nephrotic Syndrome DAAM2 Daam2 hom early 33.035 HP:0003073 MP:0005343,MP:0002941,MP:0008806,MP:0001566 ORPHA:656 Genetic Steroid-Resistant Nephrotic Syndrome GAPVD1 Gapvd1 het late 32.905 HP:0001967,HP:0031504,HP:0000093,HP:0012579,HP:0002586,HP:0012622,HP:0003774,HP:0000097 MP:0000691,MP:0000599,MP:0000598,MP:0003068,MP:0000689,MP:0002135 ORPHA:656 Genetic Steroid-Resistant Nephrotic Syndrome GAPVD1 Gapvd1 het middle 31.245 HP:0000737 MP:0001415 ORPHA:656 Genetic Steroid-Resistant Nephrotic Syndrome NUP205 Nup205 het early 19.095 HP:0003073 MP:0005178 ORPHA:656 Genetic Steroid-Resistant Nephrotic Syndrome TBC1D8B Tbc1d8b hem early 16.64 HP:0002586 MP:0004953 ORPHA:656 Genetic Steroid-Resistant Nephrotic Syndrome PLCE1 Plce1 hom early 18.025 HP:0002586 MP:0000691,MP:0000689 ORPHA:65759 Carpenter Syndrome RAB23 Rab23 het early 22.36 HP:0001748,HP:0001513,HP:0001363 MP:0003961,MP:0002599,MP:0010124 ORPHA:664 Ornithine Transcarbamylase Deficiency OTC Otc het early 30.845 HP:0001744,HP:0001987 MP:0001552,MP:0002941,MP:0000709 ORPHA:66628 Obesity Due To Congenital Leptin Deficiency LEP Lep hom early 33.055 HP:0000815,HP:0000786,HP:0008724,HP:0005407,HP:0002591,HP:0008734,HP:0004926 MP:0005333,MP:0001926,MP:0011951,MP:0010392,MP:0004953,MP:0001925,MP:0001363 ORPHA:66634 Dilated Cardiomyopathy With Ataxia DNAJC19 Dnajc19 hom early 35.82 HP:0004856,HP:0003530,HP:0001998,HP:0004840 MP:0002968,MP:0005559,MP:0005642 ORPHA:67042 Late-Onset Retinal Degeneration C1QTNF5 C1qtnf5 het early 45.795 HP:0031530,HP:0011506,HP:0007401,HP:0011510,HP:0007791,HP:0001099,HP:0100014,HP:0000533,HP:0000608,HP:0500087 MP:0001325 ORPHA:67042 Late-Onset Retinal Degeneration C1QTNF5 C1qtnf5 hom early 46.55 HP:0031530,HP:0011506,HP:0007401,HP:0011510,HP:0007791,HP:0001099,HP:0100014,HP:0000533,HP:0000608,HP:0500087 MP:0001325 ORPHA:676 Hereditary Chronic Pancreatitis CASR Casr het early 45.56 HP:0000952,HP:0100027,HP:0005213,HP:0011227 MP:0000194,MP:0001944,MP:0001566 ORPHA:676 Hereditary Chronic Pancreatitis CPA1 Cpa1 hom early 46.365 HP:0001974 MP:0002590,MP:0005561,MP:0005013,MP:0010068,MP:0000218 ORPHA:681 Hypokalemic Periodic Paralysis CACNA1S Cacna1s het early 35.91 HP:0011998 MP:0005560 ORPHA:681 Hypokalemic Periodic Paralysis CACNA1S Cacna1s hom embryo 24.865 HP:0006670 MP:0001914 ORPHA:681 Hypokalemic Periodic Paralysis SCN4A Scn4a het early 40.535 HP:0012726,HP:0008180 MP:0002966,MP:0008806 ORPHA:681 Hypokalemic Periodic Paralysis KCNE3 Kcne3 hom early 32.03 HP:0012726,HP:0008180 MP:0005567 ORPHA:682 Hyperkalemic Periodic Paralysis SCN4A Scn4a het early 39.425 HP:0002902,HP:0002900,HP:0002153,HP:0003236 MP:0002966,MP:0008806 ORPHA:684 Paramyotonia Congenita Of Von Eulenburg SCN4A Scn4a het early 22.405 HP:0011042 MP:0002966,MP:0008806 ORPHA:69087 Naegeli-Franceschetti-Jadassohn Syndrome KRT14 Krt14 het embryo 30.69 HP:0006253,HP:0001220,HP:0007530,HP:0000972,HP:0012785 MP:0000562,MP:0000564 ORPHA:69087 Naegeli-Franceschetti-Jadassohn Syndrome KRT14 Krt14 hom embryo 30.69 HP:0006253,HP:0001220,HP:0007530,HP:0000972,HP:0012785 MP:0000562,MP:0000564 ORPHA:69126 Papa Syndrome PSTPIP1 Pstpip1 hom early 32.8 HP:0000093,HP:0002716 MP:0000691,MP:0000709,MP:0000703,MP:0000689,MP:0002135,MP:0003917 ORPHA:69663 Low Phospholipid-Associated Cholelithiasis ABCB4 Abcb4 hom early 43.505 HP:0000819,HP:0100523,HP:0030151,HP:0001406,HP:0002613,HP:0002896,HP:0030991,HP:0001082,HP:0001402,HP:0003124,HP:0001081,HP:0001733,HP:0005230 MP:0002968,MP:0002941,MP:0005343,MP:0000186,MP:0000218,MP:0005553,MP:0004952,MP:0005013,MP:0002606,MP:0005627,MP:0008806,MP:0000219,MP:0005344,MP:0000220,MP:0005560 ORPHA:69665 Intrahepatic Cholestasis Of Pregnancy ABCB4 Abcb4 hom early 25.93 HP:0001337 MP:0001488 ORPHA:69665 Intrahepatic Cholestasis Of Pregnancy ABCB11 Abcb11 hom early 23.195 HP:0012202,HP:0001518,HP:0002904 MP:0002968,MP:0003960,MP:0005627 ORPHA:69665 Intrahepatic Cholestasis Of Pregnancy ABCB11 Abcb11 het early 50.14 HP:0012202,HP:0002904 MP:0002968,MP:0005343,MP:0005344,MP:0008806,MP:0011896 ORPHA:69665 Intrahepatic Cholestasis Of Pregnancy ATP8B1 Atp8b1 hom early 26.63 HP:0001337,HP:0012689,HP:0001518 MP:0003960,MP:0001489,MP:0001157 ORPHA:69665 Intrahepatic Cholestasis Of Pregnancy ATP8B1 Atp8b1 hom late 50.3 HP:0001518,HP:0001337,HP:0000716,HP:0012202,HP:0002904 MP:0001486,MP:0002968,MP:0002941,MP:0005343,MP:0000186,MP:0005627,MP:0005344,MP:0003960,MP:0001417 ORPHA:69665 Intrahepatic Cholestasis Of Pregnancy ATP8B1 Atp8b1 hom middle 30.19 HP:0001337,HP:0000716 MP:0001486,MP:0001417 ORPHA:69665 Intrahepatic Cholestasis Of Pregnancy ABCB4 Abcb4 hom early 51.59 HP:0001732,HP:0000952,HP:0001082,HP:0012202,HP:0002904,HP:0001541 MP:0002968,MP:0005343,MP:0002941,MP:0000186,MP:0005553,MP:0004952,MP:0005627,MP:0008806,MP:0005344 ORPHA:69665 Intrahepatic Cholestasis Of Pregnancy NR1H4 Nr1h4 hom early 31.43 HP:0001337,HP:0012202,HP:0002904 MP:0002968,MP:0005343,MP:0002941,MP:0001488,MP:0005178,MP:0001552,MP:0001556,MP:0005419 ORPHA:701 Alopecia Universalis HR Hr hom early 31.89 HP:0000561,HP:0002223,HP:0002232,HP:0002289 MP:0002098,MP:0000367,MP:0001284 ORPHA:705 Pendred Syndrome KCNJ10 Kcnj10 het early 22.59 HP:0001251 MP:0000745 ORPHA:708 Peters Anomaly PITX2 Pitx2 het early 56.495 HP:0011493,HP:0001087,HP:0011483,HP:0031159,HP:0007759,HP:0000659,HP:0000523 MP:0001319,MP:0001314 ORPHA:708 Peters Anomaly FOXE3 Foxe3 hom early 51.79 HP:0011493,HP:0001087,HP:0011483,HP:0031159,HP:0007759,HP:0000659,HP:0000523 MP:0001314 ORPHA:708 Peters Anomaly PAX6 Pax6 het early 51.72 HP:0011493,HP:0001087,HP:0011483,HP:0031159,HP:0007759,HP:0000659,HP:0000523 MP:0001314,MP:0005542 ORPHA:71 Chylomicron Retention Disease SAR1B Sar1b het early 55.185 HP:0001927,HP:0002155,HP:0002570,HP:0003146 MP:0000186,MP:0005505,MP:0005179,MP:0005419,MP:0005632,MP:0002942,MP:0000183 ORPHA:71275 Rh Deficiency Syndrome RHAG Rhag hom early 42.955 HP:0001878,HP:0001972,HP:0001923,HP:0011273,HP:0004444,HP:0001433,HP:0004446,HP:0002904,HP:0032231,HP:0020181 MP:0000702,MP:0000709,MP:0005562,MP:0000274,MP:0005568,MP:0002339,MP:0000703 ORPHA:71289 Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome MECOM Mecom het early 43.5 HP:0004859 MP:0002875,MP:0002874 ORPHA:71289 Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome MECOM Mecom het early 65.36 HP:0004859 MP:0003179 ORPHA:71493 Familial Thrombocytosis THPO Thpo hom early 39.395 HP:0004808,HP:0001894,HP:0001744,HP:0005506,HP:0002092 MP:0005576,MP:0003179,MP:0012125,MP:0005573,MP:0002599 ORPHA:71517 Rapid-Onset Dystonia-Parkinsonism ATP1A3 Atp1a3 het early 45.855 HP:0002066,HP:0000712,HP:0002015,HP:0000716 MP:0001399,MP:0001392,MP:0001364,MP:0001415 ORPHA:71518 Benign Paroxysmal Torticollis Of Infancy CACNA1A Cacna1a het early 41.14 HP:0000737 MP:0020421 ORPHA:71526 Obesity Due To Pro-Opiomelanocortin Deficiency POMC Pomc het early 29.665 HP:0000842,HP:0002173 MP:0005293 ORPHA:71526 Obesity Due To Pro-Opiomelanocortin Deficiency POMC Pomc het late 18.27 HP:0001396 MP:0000691,MP:0000689 ORPHA:71528 Obesity Due To Prohormone Convertase I Deficiency PCSK1 Pcsk1 het early 26.745 HP:0002591 MP:0020420 ORPHA:721 Gray Platelet Syndrome NBEAL2 Nbeal2 hom early 59.715 HP:0001744,HP:0001872,HP:0001873 MP:0003179,MP:0002599,MP:0000218 ORPHA:725 Continuous Spikes And Waves During Sleep FRRS1L Frrs1l hom early 32.395 HP:0000718,HP:0001332 MP:0001399,MP:0001513 ORPHA:730 Autosomal Dominant Polycystic Kidney Disease DNAJB11 Dnajb11 het early 41.68 HP:0004944,HP:0002616,HP:0003259,HP:0011004 MP:0002968,MP:0010574 ORPHA:730 Autosomal Dominant Polycystic Kidney Disease PKD1 Pkd1 het early 20.365 HP:0003259 MP:0002966,MP:0005567 ORPHA:730 Autosomal Dominant Polycystic Kidney Disease BICC1 Bicc1 het early 30.455 HP:0000083,HP:0012622,HP:0003774,HP:0000107,HP:0012330,HP:0000787,HP:0000790,HP:0012592,HP:0012591,HP:0000105,HP:0012213 MP:0002135,MP:0002989 ORPHA:730 Autosomal Dominant Polycystic Kidney Disease BICC1 Bicc1 hom embryo 20.905 HP:0001634 MP:0000266,MP:0000269 ORPHA:731 Autosomal Recessive Polycystic Kidney Disease DZIP1L Dzip1l het early 22.575 HP:0002239,HP:0001409,HP:0000822,HP:0000369,HP:0001959 MP:0001399,MP:0005333,MP:0004738,MP:0002574 ORPHA:731 Autosomal Recessive Polycystic Kidney Disease DZIP1L Dzip1l hom embryo 26.56 HP:0002239,HP:0001409,HP:0000822,HP:0001541,HP:0001562 MP:0001785,MP:0001914 ORPHA:740 Hutchinson-Gilford Progeria Syndrome LMNA Lmna het early 51.51 HP:0010505,HP:0007957,HP:0002673,HP:0000347,HP:0000855,HP:0002827,HP:0000894,HP:0009839,HP:0012804 MP:0005292,MP:0009825,MP:0002764 ORPHA:742 Prolidase Deficiency PEPD Pepd hom early 42.19 HP:0001744,HP:0002857,HP:0007703,HP:0004349 MP:0009923,MP:0003795,MP:0000063,MP:0013430,MP:0005562,MP:0008215,MP:0013772,MP:0013514,MP:0013678,MP:0013427,MP:0008074,MP:0010124,MP:0010850,MP:0001325,MP:0002932,MP:0000218 ORPHA:742 Prolidase Deficiency PEPD Pepd hom early 35.68 HP:0007703,HP:0001166,HP:0000347,HP:0001744,HP:0002857,HP:0004349,HP:0000982,HP:0003272 MP:0008259,MP:0002764,MP:0002591,MP:0010124,MP:0001325 ORPHA:742 Prolidase Deficiency PEPD Pepd hom late 26.045 HP:0001744 MP:0000702,MP:0005017,MP:0008207,MP:0013691,MP:0008174 ORPHA:746 Mitochondrial Trifunctional Protein Deficiency HADHB Hadhb het early 34.015 HP:0001985 MP:0013278 ORPHA:75249 Familial Isolated Restrictive Cardiomyopathy FLNC Flnc hom embryo 30.41 HP:0001639,HP:0031329,HP:0031295,HP:0030718 MP:0000266,MP:0000269 ORPHA:75840 Congenital Muscular Dystrophy, Ullrich Type COL6A3 Col6a3 hom early 18.155 HP:0003236 MP:0000182 ORPHA:763 Pycnodysostosis CTSK Ctsk hom early 51.975 HP:0001388,HP:0011001,HP:0008905,HP:0000347,HP:0100559,HP:0005789,HP:0010884,HP:0200055,HP:0002659,HP:0001773,HP:0003027,HP:0009839,HP:0009381,HP:0002866,HP:0004440,HP:0001156 MP:0000062,MP:0002764 ORPHA:772 Infantile Refsum Disease PEX3 Pex3 hom early 38.665 HP:0000518,HP:0010571,HP:0001638,HP:0011675,HP:0001508 MP:0001312,MP:0000186,MP:0005179,MP:0005567,MP:0001262,MP:0005419,MP:0005542,MP:0000183 ORPHA:772 Infantile Refsum Disease PEX26 Pex26 het early 22.31 HP:0002240 MP:0000691 ORPHA:772 Infantile Refsum Disease PEX14 Pex14 het early 28.315 HP:0000518 MP:0011960 ORPHA:772 Infantile Refsum Disease PEX6 Pex6 het early 53.375 HP:0000510,HP:0000518,HP:0000648,HP:0010628 MP:0001312,MP:0008259,MP:0002792,MP:0001322,MP:0001304,MP:0001307,MP:0010097,MP:0006243,MP:0004222 ORPHA:772 Infantile Refsum Disease PEX1 Pex1 het early 44.4 HP:0001638,HP:0011675,HP:0002240 MP:0002753,MP:0005140,MP:0005333,MP:0000598 ORPHA:77259 Gaucher Disease Type 1 SCARB2 Scarb2 hom early 46.315 HP:0000938,HP:0002240,HP:0001876,HP:0011001,HP:0000093,HP:0001971,HP:0001744,HP:0001873,HP:0002797,HP:0000790,HP:0001882,HP:0002092,HP:0001903 MP:0000702,MP:0010506,MP:0003928,MP:0005505,MP:0004122,MP:0005013,MP:0004156,MP:0002591,MP:0003068,MP:0010123,MP:0000219,MP:0000223,MP:0000218 ORPHA:77259 Gaucher Disease Type 1 GBA1 Gba1 het early 33.82 HP:0001876,HP:0001971,HP:0001744,HP:0001903,HP:0001882,HP:0002092,HP:0001873 MP:0010392,MP:0002599 ORPHA:77260 Gaucher Disease Type 2 GBA1 Gba1 het early 32.1 HP:0001744,HP:0001695 MP:0010392,MP:0002599 ORPHA:77261 Gaucher Disease Type 3 GBA1 Gba1 het early 30.945 HP:0001876,HP:0001744,HP:0001903,HP:0002092,HP:0001873 MP:0010392,MP:0002599 ORPHA:77297 Majeed Syndrome LPIN2 Lpin2 hom early 33.74 HP:0001744,HP:0001974,HP:0004840,HP:0004810 MP:0000702,MP:0005642,MP:0005562,MP:0002874,MP:0010067,MP:0002599 ORPHA:77298 Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome SOX2 Sox2 het early 35.37 HP:0000612,HP:0000647 MP:0001319 ORPHA:77298 Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome SOX2 Sox2 het embryo 18.015 HP:0001510 MP:0003984 ORPHA:773 Refsum Disease PHYH Phyh hom early 13.635 HP:0001744 MP:0005016,MP:0000219 ORPHA:774 Hereditary Hemorrhagic Telangiectasia GDF2 Gdf2 hom early 26.91 HP:0001935 MP:0002590 ORPHA:774 Hereditary Hemorrhagic Telangiectasia ENG Eng het early 19.41 HP:0000790,HP:0000787,HP:0001935 MP:0002135,MP:0002989,MP:0000219 ORPHA:776 Lujan-Fryns Syndrome UPF3B Upf3b hem early 40.425 HP:0001166,HP:0100490,HP:0007018,HP:0000053,HP:0001156 MP:0000157,MP:0000706,MP:0001399 ORPHA:776 Lujan-Fryns Syndrome UPF3B Upf3b hom early 40.88 HP:0000053,HP:0000218,HP:0007018 MP:0000706,MP:0002574,MP:0000470,MP:0020422,MP:0001399 ORPHA:779 Reynolds Syndrome LBR Lbr hom early 19.13 HP:0001369,HP:0100585,HP:0100579 MP:0010511,MP:0000063 ORPHA:782 Axenfeld-Rieger Syndrome PITX2 Pitx2 het early 47.22 HP:0000047,HP:0000327,HP:0000593,HP:0008053,HP:0000232,HP:0000668,HP:0000864,HP:0000691,HP:0000627 MP:0001319,MP:0001314,MP:0002100,MP:0001147 ORPHA:79083 Pparg-Related Familial Partial Lipodystrophy PPARG Pparg het early 37.66 HP:0003635,HP:0000819,HP:0100578,HP:0009800,HP:0000831,HP:0000855,HP:0000292 MP:0013279,MP:0010024 ORPHA:79084 Familial Partial Lipodystrophy, Köbberling Type LMNA Lmna het early 45.01 HP:0000855,HP:0000819,HP:0000842 MP:0005292 ORPHA:79085 Akt2-Related Familial Partial Lipodystrophy AKT2 Akt2 het early 36.695 HP:0008993,HP:0009125 MP:0010024 ORPHA:79085 Akt2-Related Familial Partial Lipodystrophy AKT2 Akt2 hom early 45.83 HP:0002155,HP:0009125,HP:0000831,HP:0000855,HP:0008993 MP:0002968,MP:0000194,MP:0002078,MP:0010024,MP:0005559,MP:0002644 ORPHA:791 Retinitis Pigmentosa PRPF31 Prpf31 het early 22.495 HP:0000987,HP:0001513 MP:0003961,MP:0010024 ORPHA:791 Retinitis Pigmentosa SAG Sag hom early 32.445 HP:0000987,HP:0000563,HP:0000518,HP:0001513 MP:0004222,MP:0003960,MP:0010025 ORPHA:791 Retinitis Pigmentosa RPE65 Rpe65 hom early 41.11 HP:0000563,HP:0007703,HP:0000518,HP:0008046,HP:0000648 MP:0001317,MP:0001325,MP:0006243 ORPHA:791 Retinitis Pigmentosa PRPF6 Prpf6 het early 30.46 HP:0000842,HP:0005978 MP:0005560 ORPHA:791 Retinitis Pigmentosa FAM161A Fam161a hom early 17.68 HP:0001513 MP:0003960 ORPHA:791 Retinitis Pigmentosa KIAA1549 D630045J12Rik hom early 40.72 HP:0000987,HP:0000842,HP:0005978 MP:0005292,MP:0013279,MP:0010025 ORPHA:791 Retinitis Pigmentosa CA4 Car4 het early 42.28 HP:0000563,HP:0000518 MP:0001303 ORPHA:791 Retinitis Pigmentosa SNRNP200 Snrnp200 het early 27.85 HP:0008046,HP:0007703,HP:0000648 MP:0006243 ORPHA:791 Retinitis Pigmentosa RLBP1 Rlbp1 hom early 18.005 HP:0001513 MP:0003960 ORPHA:791 Retinitis Pigmentosa CLRN1 Clrn1 hom early 23.02 HP:0000405,HP:0000407,HP:0008736,HP:0000648 MP:0002135,MP:0004738 ORPHA:791 Retinitis Pigmentosa NEK2 Nek2 hom early 32.035 HP:0000407,HP:0000648,HP:0000842,HP:0005978,HP:0000405 MP:0004738,MP:0013279 ORPHA:791 Retinitis Pigmentosa SPATA7 Spata7 hom early 41.025 HP:0007703,HP:0008046,HP:0000648,HP:0000842,HP:0005978 MP:0013278,MP:0001325 ORPHA:791 Retinitis Pigmentosa IFT172 Ift172 het early 34.255 HP:0008046,HP:0007703,HP:0000648 MP:0010097 ORPHA:791 Retinitis Pigmentosa RP9 Rp9 hom early 23.795 HP:0008736,HP:0000035,HP:0000135 MP:0009709,MP:0001120 ORPHA:791 Retinitis Pigmentosa HGSNAT Hgsnat hom early 22.31 HP:0000987,HP:0008736,HP:0001513 MP:0003960,MP:0011874,MP:0010025 ORPHA:791 Retinitis Pigmentosa NEK2 Nek2 hom early 17.505 HP:0008736 MP:0002135 ORPHA:791 Retinitis Pigmentosa SCAPER Scaper hom early 21.92 HP:0000035,HP:0000135 MP:0001925 ORPHA:791 Retinitis Pigmentosa ARL2BP Arl2bp hom early 46.12 HP:0008046,HP:0007703,HP:0000648 MP:0008259 ORPHA:791 Retinitis Pigmentosa IDH3B Idh3b hom early 22.01 HP:0000035,HP:0000135 MP:0001925 ORPHA:791 Retinitis Pigmentosa ARHGEF18 Arhgef18 het early 37.6 HP:0008046,HP:0007703,HP:0000648 MP:0001325 ORPHA:791 Retinitis Pigmentosa BBS2 Bbs2 het early 18.005 HP:0001513 MP:0003961 ORPHA:791 Retinitis Pigmentosa DHX38 Dhx38 het early 16.975 HP:0007703 MP:0002075 ORPHA:791 Retinitis Pigmentosa CRX Crx hom early 49.51 HP:0007703,HP:0008736,HP:0008046,HP:0000648,HP:0000842,HP:0000135,HP:0005978,HP:0000035 MP:0000706,MP:0002059,MP:0000709,MP:0001147,MP:0013279,MP:0000538,MP:0000703,MP:0001146,MP:0001325,MP:0011874 ORPHA:791 Retinitis Pigmentosa TOPORS Topors hom early 25.13 HP:0000407,HP:0000648,HP:0000135,HP:0000405,HP:0000035 MP:0004738,MP:0001926 ORPHA:791 Retinitis Pigmentosa ZNF513 Zfp513 hom early 30.695 HP:0000842,HP:0005978 MP:0005559 ORPHA:791 Retinitis Pigmentosa PDE6B Pde6b hom early 25.475 HP:0001513 MP:0001262 ORPHA:79100 Atrophoderma Vermiculata LRP1 Lrp1 hom embryo 25.55 HP:0012722 MP:0001914 ORPHA:79102 Thyrotoxic Periodic Paralysis CACNA1S Cacna1s het early 29.615 HP:0011998 MP:0005560 ORPHA:79102 Thyrotoxic Periodic Paralysis CACNA1S Cacna1s hom embryo 26.44 HP:0001657,HP:0001337,HP:0005165,HP:0006670,HP:0011706,HP:0001962,HP:0001663 MP:0001491,MP:0001914 ORPHA:79106 Eiken Syndrome PTH1R Pth1r het early 36.27 HP:0100671,HP:0002663,HP:0002753,HP:0011849 MP:0010124 ORPHA:79113 Mandibulofacial Dysostosis-Microcephaly Syndrome EFTUD2 Eftud2 het early 19.65 HP:0001631 MP:0010579 ORPHA:79113 Mandibulofacial Dysostosis-Microcephaly Syndrome EFTUD2 Eftud2 het late 22.935 HP:0001631 MP:0003921,MP:0010580,MP:0002953 ORPHA:79134 Dend Syndrome KCNJ11 Kcnj11 hom early 43.355 HP:0040217,HP:0003074,HP:0009894 MP:0013278,MP:0002874,MP:0002102,MP:0005293 ORPHA:79134 Dend Syndrome ABCC8 Abcc8 hom early 26.145 HP:0003074 MP:0005293 ORPHA:79137 Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome KCNMA1 Kcnma1 hom early 41.74 HP:0002072,HP:0007166 MP:0000745 ORPHA:79155 Hydroxykynureninuria KYNU Kynu hom early 30.805 HP:0004365 MP:0005344 ORPHA:79230 Hjv Or Hamp-Related Hemochromatosis HJV Hjv hom early 49.835 HP:0003281,HP:0012463,HP:0011031 MP:0008810 ORPHA:79233 Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency HPRT1 Hprt1 hem early 17.385 HP:0003259,HP:0002149 MP:0001556 ORPHA:79239 Classic Galactosemia GALT Galt hom early 27.9 HP:0001943 MP:0005293 ORPHA:79240 Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency PHKB Phkb het early 15.82 HP:0004324 MP:0003961 ORPHA:79242 Holocarboxylase Synthetase Deficiency HLCS Hlcs het early 21.575 HP:0001987 MP:0000195,MP:0000198 ORPHA:79243 Pyruvate Dehydrogenase E1-Alpha Deficiency LONP1 Lonp1 het early 18.945 HP:0003542 MP:0004151,MP:0001556 ORPHA:79244 Pyruvate Dehydrogenase E2 Deficiency DLAT Dlat het early 26.755 HP:0000726 MP:0001417 ORPHA:79254 Classic Phenylketonuria PAH Pah het early 35.795 HP:0000716,HP:0007018,HP:0001268,HP:0002354,HP:0002333 MP:0001417 ORPHA:79254 Classic Phenylketonuria PAH Pah hom early 46.295 HP:0005599,HP:0000518,HP:0001010 MP:0001312,MP:0002075 ORPHA:79276 Acute Intermittent Porphyria HMBS Hmbs het early 26.77 HP:0001337,HP:0000711,HP:0007024 MP:0001399,MP:0001488 ORPHA:79277 Congenital Erythropoietic Porphyria UROS Uros het early 29.93 HP:0001878,HP:0001923,HP:0011273,HP:0001744,HP:0001882,HP:0004447,HP:0012132,HP:0001873 MP:0000218 ORPHA:79282 Methylmalonic Acidemia With Homocystinuria, Type Cblc MMACHC Mmachc het early 12.075 HP:0005575,HP:0000083,HP:0002919,HP:0012120 MP:0002989 ORPHA:79282 Methylmalonic Acidemia With Homocystinuria, Type Cblc MMACHC Mmachc hom embryo 30.28 HP:0001511,HP:0001789,HP:0001944 MP:0001785,MP:0001697 ORPHA:79284 Methylmalonic Acidemia With Homocystinuria Type Cblf LMBRD1 Lmbrd1 het early 28.605 HP:0001875,HP:0001889 MP:0005562 ORPHA:79284 Methylmalonic Acidemia With Homocystinuria Type Cblf LMBRD1 Lmbrd1 het embryo 18.505 HP:0001511 MP:0001697 ORPHA:79299 Congenital Glucokinase-Related Hyperinsulinism GCK Gck het early 60.925 HP:0008283,HP:0030794,HP:0001988,HP:0005978,HP:0000825,HP:0001985 MP:0002968,MP:0005559,MP:0013279,MP:0005293 ORPHA:79303 Congenital Bile Acid Synthesis Defect Type 2 AKR1D1 Akr1d1 hom early 17.11 HP:0002240 MP:0002833 ORPHA:79318 Pmm2-Cdg PMM2 Pmm2 het early 17.075 HP:0012509,HP:0003073 MP:0005565 ORPHA:79319 Mpi-Cdg MPI Mpi het early 19.82 HP:0003073 MP:0000194 ORPHA:79325 Alg8-Cdg ALG8 Alg8 het early 29.82 HP:0001001,HP:0001508,HP:0001518,HP:0012385 MP:0003961,MP:0010024 ORPHA:79325 Alg8-Cdg ALG8 Alg8 het late 17.175 HP:0002902 MP:0005178,MP:0001556 ORPHA:79325 Alg8-Cdg ALG8 Alg8 hom embryo 32.555 HP:0001511 MP:0003984,MP:0001697 ORPHA:79328 Alg9-Cdg ALG9 Alg9 het early 30.865 HP:0001539,HP:0009125 MP:0010024 ORPHA:79330 Mogs-Cdg MOGS Mogs het early 33.025 HP:0002240,HP:0001433,HP:0000034,HP:0000218,HP:0031218,HP:0010557,HP:0000821,HP:0001873 MP:0002544,MP:0001944,MP:0008024,MP:0000709,MP:0000681,MP:0005313,MP:0000467 ORPHA:79350 3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form PSPH Psph hom embryo 18.89 HP:0100540 MP:0001785 ORPHA:79351 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form PHGDH Phgdh het embryo 22.035 HP:0002305 MP:0001491 ORPHA:79351 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form PHGDH Phgdh hom embryo 33.82 HP:0004322,HP:0000252,HP:0011451,HP:0001537,HP:0001511 MP:0001672,MP:0011496,MP:0003229,MP:0001718,MP:0001697,MP:0001700,MP:0003984 ORPHA:79394 Congenital Ichthyosiform Erythroderma ALOXE3 Aloxe3 het embryo 19.715 HP:0004322 MP:0003984 ORPHA:79394 Congenital Ichthyosiform Erythroderma ALOXE3 Aloxe3 hom embryo 19.715 HP:0004322 MP:0003984 ORPHA:79394 Congenital Ichthyosiform Erythroderma ABCA12 Abca12 hom embryo 16.785 HP:0000365 MP:0002177 ORPHA:79396 Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form KRT14 Krt14 het embryo 11.865 HP:0000982 MP:0000562,MP:0000564 ORPHA:79396 Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form KRT14 Krt14 hom embryo 11.865 HP:0000982 MP:0000562,MP:0000564 ORPHA:79397 Epidermolysis Bullosa Simplex With Mottled Pigmentation KRT14 Krt14 het embryo 16.72 HP:0010765 MP:0000562,MP:0000564 ORPHA:79397 Epidermolysis Bullosa Simplex With Mottled Pigmentation KRT14 Krt14 hom embryo 16.72 HP:0010765 MP:0000562,MP:0000564 ORPHA:79399 Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form KRT14 Krt14 het embryo 16.965 HP:0010765 MP:0000562,MP:0000564 ORPHA:79399 Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form KRT14 Krt14 hom embryo 16.965 HP:0010765 MP:0000562,MP:0000564 ORPHA:794 Saethre-Chotzen Syndrome TWIST1 Twist1 het early 44.785 HP:0001822,HP:0006101,HP:0005037,HP:0001156,HP:0010720,HP:0003307,HP:0000327,HP:0000294,HP:0003312,HP:0001199,HP:0002650,HP:0004209,HP:0011304,HP:0007598 MP:0000572,MP:0004599,MP:0002110,MP:0005270,MP:0000579,MP:0004509,MP:0000137 ORPHA:79400 Localized Epidermolysis Bullosa Simplex KRT14 Krt14 het embryo 17.835 HP:0007446,HP:0007497,HP:0010765 MP:0000562,MP:0000564 ORPHA:79400 Localized Epidermolysis Bullosa Simplex KRT14 Krt14 hom embryo 17.835 HP:0007446,HP:0007497,HP:0010765 MP:0000562,MP:0000564 ORPHA:79402 Intermediate Generalized Junctional Epidermolysis Bullosa LAMB3 Lamb3 hom early 44.34 HP:0006297,HP:0200097 MP:0002100 ORPHA:79404 Severe Generalized Junctional Epidermolysis Bullosa LAMB3 Lamb3 hom early 31.905 HP:0006297,HP:0031446,HP:0011830 MP:0002100 ORPHA:79432 Oculocutaneous Albinism Type 2 MC1R Mc1r hom early 49.97 HP:0007703,HP:0005599,HP:0002227,HP:0002226,HP:0200098,HP:0011364,HP:0000635,HP:0012805,HP:0007481,HP:0001480,HP:0001010,HP:0001100,HP:0007730 MP:0002075 ORPHA:79443 Pseudohypoparathyroidism Type 1A GNAS Gnas hom early 21.855 HP:0001266,HP:0012049,HP:0001513 MP:0003960,MP:0001488 ORPHA:79444 Pseudohypoparathyroidism Type 1C GNAS Gnas hom early 21.785 HP:0012049,HP:0001513 MP:0003960,MP:0001488 ORPHA:79445 Pseudopseudohypoparathyroidism GNAS Gnas hom early 16.81 HP:0001513 MP:0003960 ORPHA:79452 Milroy Disease ANGPT2 Angpt2 hom early 23.575 HP:0000034 MP:0000703,MP:0000706,MP:0001157 ORPHA:79473 Porphyria Variegata PPOX Ppox het early 32.97 HP:0002902,HP:0010472,HP:0012332 MP:0002941,MP:0004738,MP:0001566 ORPHA:79474 Atypical Werner Syndrome LMNA Lmna het early 35.455 HP:0004279,HP:0001763,HP:0000819,HP:0001838,HP:0000347,HP:0000831,HP:0008283,HP:0000842,HP:0009771,HP:0000519,HP:0040019,HP:0008981,HP:0001385,HP:0005978,HP:0003076,HP:0003074,HP:0005109 MP:0005292,MP:0009825,MP:0002764 ORPHA:79476 Griscelli Syndrome Type 1 MYO5A Myo5a hom early 53.28 HP:0002216,HP:0011364,HP:0007443,HP:0007730 MP:0001312,MP:0002075 ORPHA:79477 Griscelli Syndrome Type 2 RAB27A Rab27a hom early 48.57 HP:0002216,HP:0005599,HP:0007443,HP:0007730 MP:0011962,MP:0002075 ORPHA:79478 Griscelli Syndrome Type 3 MYO5A Myo5a hom early 71.185 HP:0005599,HP:0007443,HP:0007730 MP:0001312,MP:0002075 ORPHA:79500 Doors Syndrome ATP6V1B2 Atp6v1b2 het early 41.37 HP:0001894,HP:0008221,HP:0000851 MP:0005642,MP:0005562,MP:0002874,MP:0002768,MP:0002591 ORPHA:79644 Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency KCNJ11 Kcnj11 hom early 40.24 HP:0001988,HP:0001998,HP:0000825 MP:0013278,MP:0005293 ORPHA:803 Amyotrophic Lateral Sclerosis FUS Fus het early 30.28 HP:0030196,HP:0030195,HP:0030192 MP:0009141 ORPHA:803 Amyotrophic Lateral Sclerosis NEK1 Nek1 hom early 28.725 HP:0030196,HP:0030195,HP:0030192 MP:0009142 ORPHA:803 Amyotrophic Lateral Sclerosis VAPB Vapb hom early 35.35 HP:0000712,HP:0000716 MP:0005655 ORPHA:805 Tuberous Sclerosis Complex IFNG Ifng het early 28.015 HP:0011947,HP:0012798 MP:0001175 ORPHA:808 Seckel Syndrome CENPJ Cenpj hom early 37.015 HP:0001852,HP:0000682,HP:0004326,HP:0001363,HP:0002750,HP:0010579,HP:0005692,HP:0001385,HP:0002650,HP:0004209 MP:0004609,MP:0005296,MP:0000558,MP:0005108,MP:0010025,MP:0003961,MP:0001262,MP:0010124,MP:0002932,MP:0000137 ORPHA:808 Seckel Syndrome PCNT Pcnt hom embryo 30.47 HP:0001511,HP:0004322 MP:0003984 ORPHA:811 Shwachman-Diamond Syndrome DNAJC21 Dnajc21 het early 24.015 HP:0005871,HP:0003016,HP:0001167,HP:0003025,HP:0006461 MP:0002764 ORPHA:818 Smith-Lemli-Opitz Syndrome DHCR7 Dhcr7 het early 27.455 HP:0000074,HP:0008736,HP:0000003,HP:0001629,HP:0000047,HP:0005264,HP:0001631,HP:0006695,HP:0000126 MP:0000691,MP:0000274,MP:0000266,MP:0002989,MP:0000689,MP:0002135 ORPHA:818 Smith-Lemli-Opitz Syndrome DHCR7 Dhcr7 het embryo 30.585 HP:0008056 MP:0001297 ORPHA:818 Smith-Lemli-Opitz Syndrome DHCR7 Dhcr7 hom embryo 32.9 HP:0008905,HP:0004322,HP:0001561,HP:0010880,HP:0001510,HP:0001511,HP:0008056 MP:0001297,MP:0001785,MP:0003984 ORPHA:819 Smith-Magenis Syndrome FLII Flii het early 20.35 HP:0000069 MP:0002135 ORPHA:819 Smith-Magenis Syndrome FLII Flii hom embryo 18.8 HP:0004322,HP:0000823 MP:0003984 ORPHA:821 Sotos Syndrome SETD2 Setd2 hom early 16.78 HP:0003273,HP:0001763,HP:0006466,HP:0005617,HP:0004691,HP:0010741,HP:0001176,HP:0001762 MP:0002764 ORPHA:822 Hereditary Spherocytosis SPTB Sptb het early 47.005 HP:0001923,HP:0005525,HP:0001978,HP:0001744,HP:0004444,HP:0025548,HP:0001903 MP:0003131,MP:0002591,MP:0005562 ORPHA:83461 Congenital Primary Aphakia FOXE3 Foxe3 hom early 58.095 HP:0000568,HP:0008062,HP:0000647,HP:0007707 MP:0001293,MP:0001297,MP:0001314 ORPHA:83463 Microtia HOXA2 Hoxa2 het early 16.39 HP:0000377,HP:0009892,HP:0008551,HP:0000413,HP:0008589 MP:0004738 ORPHA:83469 Desmoplastic Small Round Cell Tumor EWSR1 Ewsr1 het early 18.56 HP:0001903 MP:0005013,MP:0000218 ORPHA:83469 Desmoplastic Small Round Cell Tumor EWSR1 Ewsr1 het embryo 28.09 HP:0001541 MP:0001785 ORPHA:83469 Desmoplastic Small Round Cell Tumor EWSR1 Ewsr1 hom embryo 28.09 HP:0001541 MP:0001785 ORPHA:84 Fanconi Anemia MAD2L2 Mad2l2 het early 20.96 HP:0006101,HP:0003022,HP:0001770,HP:0040071,HP:0001172,HP:0006265,HP:0002823,HP:0100760,HP:0006501,HP:0002817,HP:0001199,HP:0004209 MP:0000574 ORPHA:84 Fanconi Anemia PALB2 Palb2 het early 13.735 HP:0000864,HP:0000135 MP:0002079 ORPHA:84 Fanconi Anemia FANCL Fancl hom early 36.405 HP:0005522,HP:0001873,HP:0001053,HP:0004349,HP:0001000,HP:0001882,HP:0001824,HP:0007565,HP:0001537,HP:0007400,HP:0001903 MP:0003795,MP:0000063,MP:0005011,MP:0002075,MP:0003961,MP:0002606,MP:0010024,MP:0010124 ORPHA:84 Fanconi Anemia BRIP1 Brip1 hom early 40.83 HP:0005522,HP:0000518,HP:0008053,HP:0001882,HP:0001903,HP:0000483,HP:0001873 MP:0001304,MP:0002590,MP:0003179 ORPHA:84 Fanconi Anemia FANCD2 Fancd2 het early 15.575 HP:0000083,HP:0000072,HP:0000047,HP:0100587 MP:0002989 ORPHA:84 Fanconi Anemia ERCC4 Ercc4 hom embryo 32.08 HP:0008053,HP:0000568 MP:0001293 ORPHA:84 Fanconi Anemia FANCF Fancf hom early 31.28 HP:0005522,HP:0000518,HP:0001873,HP:0008053,HP:0001882,HP:0000483,HP:0001903 MP:0005561,MP:0002590,MP:0001314 ORPHA:84064 Syndromic Diarrhea SKIC2 Skic2 het early 26.685 HP:0011031 MP:0003020,MP:0005568 ORPHA:84064 Syndromic Diarrhea SKIC3 Skic3 het early 29.97 HP:0002240,HP:0011877,HP:0001744,HP:0000089,HP:0000778,HP:0011031,HP:0000113,HP:0001894,HP:0001888 MP:0005627,MP:0005641,MP:0011874 ORPHA:84081 Senior-Boichis Syndrome TMEM67 Tmem67 het early 21.385 HP:0007018 MP:0001415 ORPHA:85112 Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome RSPO1 Rspo1 hom early 19.32 HP:0012245 MP:0001147,MP:0001146 ORPHA:85212 Fetal Gaucher Disease GBA1 Gba1 het early 36.125 HP:0001876,HP:0001744,HP:0001743,HP:0002170,HP:0001873 MP:0010392,MP:0002599 ORPHA:85212 Fetal Gaucher Disease GBA1 Gba1 hom early 25.435 HP:0003811,HP:0003826 MP:0011100 ORPHA:85277 X-Linked Intellectual Disability, Cantagrel Type NEXMIF Nexmif hem early 28.46 HP:0000733 MP:0001399 ORPHA:85277 X-Linked Intellectual Disability, Cantagrel Type NEXMIF Nexmif het early 29.98 HP:0000733 MP:0001399 ORPHA:85288 X-Linked Intellectual Disability, Stocco Dos Santos Type SHROOM4 Shroom4 hem early 37.91 HP:0000518 MP:0001314 ORPHA:853 Fetal And Neonatal Alloimmune Thrombocytopenia ITGA2 Itga2 hom early 26.835 HP:0100021 MP:0000745 ORPHA:853 Fetal And Neonatal Alloimmune Thrombocytopenia CD109 Cd109 hom early 44.345 HP:0001892,HP:0002239,HP:0002138,HP:0012541,HP:0002170,HP:0002249,HP:0007420,HP:0031364,HP:0000967,HP:0000979 MP:0006203 ORPHA:853 Fetal And Neonatal Alloimmune Thrombocytopenia GP1BB Gp1bb hom early 43.26 HP:0004809 MP:0003179,MP:0002590,MP:0002599 ORPHA:85329 X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome AP1S2 Ap1s2 hom early 26.735 HP:0001288,HP:0000718 MP:0002574 ORPHA:85335 Fried Syndrome AP1S2 Ap1s2 hem early 31.97 HP:0000587 MP:0006243 ORPHA:85335 Fried Syndrome AP1S2 Ap1s2 hom early 31.13 HP:0001288,HP:0000718 MP:0002574 ORPHA:85408 Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis PTPN2 Ptpn2 het early 28.39 HP:0001903,HP:0001433 MP:0005564 ORPHA:85408 Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis IL2RA Il2ra hom early 42.935 HP:0001387,HP:0005086,HP:0001371,HP:0040313,HP:0100769,HP:0002716,HP:0001433,HP:0100686,HP:0001369,HP:0008843,HP:0003319,HP:0001903 MP:0000702,MP:0005642,MP:0000063,MP:0005562,MP:0012362,MP:0002875,MP:0002591,MP:0002874,MP:0000689,MP:0000219,MP:0000208,MP:0000137,MP:0005016 ORPHA:85408 Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis IL2RB Il2rb hom early 22.63 HP:0011911,HP:0003019,HP:0001832,HP:0001155 MP:0000572 ORPHA:85410 Oligoarticular Juvenile Idiopathic Arthritis IL2RA Il2ra hom early 19.26 HP:0005086,HP:0040313,HP:0001382,HP:0001370 MP:0000063 ORPHA:85410 Oligoarticular Juvenile Idiopathic Arthritis STAT4 Stat4 hom early 41.79 HP:0000518,HP:0007833,HP:0000585 MP:0001314 ORPHA:85414 Systemic-Onset Juvenile Idiopathic Arthritis IL6 Il6 hom early 25.88 HP:0001744,HP:0002240,HP:0001701 MP:0000274,MP:0000266 ORPHA:861 Treacher-Collins Syndrome POLR1C Polr1c het early 35.855 HP:0000518,HP:0000612 MP:0001304 ORPHA:861 Treacher-Collins Syndrome POLR1C Polr1c het late 27.955 HP:0000643,HP:0000561,HP:0000294,HP:0001595 MP:0001513,MP:0002075,MP:0001523 ORPHA:861 Treacher-Collins Syndrome POLR1B Polr1b het early 43.74 HP:0008736,HP:0006482,HP:0000682,HP:0000347,HP:0000327,HP:0000204,HP:0010807,HP:0000164,HP:0000028,HP:0000175,HP:0000154,HP:0000162,HP:0009804,HP:0000778,HP:0000218,HP:0010669,HP:0000160,HP:0000272,HP:0000278,HP:0005990 MP:0003068,MP:0000702,MP:0002100,MP:0000709 ORPHA:861 Treacher-Collins Syndrome POLR1B Polr1b het late 32.17 HP:0000028,HP:0008736,HP:0000778,HP:0005990 MP:0011874,MP:0000709 ORPHA:86814 Benign Adult Familial Myoclonic Epilepsy YEATS2 Yeats2 het late 39.665 HP:0002378 MP:0001513,MP:0001523 ORPHA:86818 Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome ACSL4 Acsl4 hem early 30.035 HP:0000944,HP:0001182 MP:0000558 ORPHA:86818 Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome ACSL4 Acsl4 het early 20.095 HP:0004445 MP:0003179 ORPHA:86884 Subcutaneous Panniculitis-Like T-Cell Lymphoma HAVCR2 Havcr2 hom early 37.14 HP:0012156,HP:0001433 MP:0000274,MP:0004952 ORPHA:869 Triple A Syndrome GMPPA Gmppa hom early 27.44 HP:0001251,HP:0000612 MP:0001314,MP:0002574 ORPHA:869 Triple A Syndrome TRAPPC11 Trappc11 het early 21.24 HP:0000407,HP:0000648 MP:0004738 ORPHA:873 Desmoid Tumor CTNNB1 Ctnnb1 het early 32.99 HP:0001376,HP:0002797 MP:0000062,MP:0002896 ORPHA:88 Idiopathic Aplastic Anemia IFNG Ifng het early 37.445 HP:0001876,HP:0001896,HP:0001903,HP:0001875,HP:0001873 MP:0002608 ORPHA:88 Idiopathic Aplastic Anemia PRF1 Prf1 hom early 39.075 HP:0001876,HP:0001896,HP:0001903,HP:0001875,HP:0001873 MP:0005642 ORPHA:882 Tyrosinemia Type 1 FAH Fah het early 57.595 HP:0006554,HP:0002240,HP:0001744,HP:0002909,HP:0001402 MP:0000601,MP:0000691,MP:0000274,MP:0000598,MP:0003068,MP:0002989,MP:0000689,MP:0002135 ORPHA:88635 Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates CASQ1 Casq1 hom early 45.805 HP:0003236 MP:0005554,MP:0005568 ORPHA:88637 Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome POLR1C Polr1c het late 32.485 HP:0001251 MP:0001523 ORPHA:891 Familial Exudative Vitreoretinopathy CTNNB1 Ctnnb1 het early 37.335 HP:0004349 MP:0000062,MP:0002896 ORPHA:891 Familial Exudative Vitreoretinopathy FZD4 Fzd4 hom embryo 37.89 HP:0040049,HP:0001004 MP:0001785 ORPHA:893 Wagr Syndrome PAX6 Pax6 het early 35.66 HP:0008053,HP:0000518 MP:0001293,MP:0001297,MP:0001314,MP:0005542 ORPHA:893 Wagr Syndrome PAX6 Pax6 het embryo 27.775 HP:0008053 MP:0001297 ORPHA:893 Wagr Syndrome PAX6 Pax6 hom embryo 30.325 HP:0008053,HP:0000232 MP:0001293,MP:0000111 ORPHA:895 Waardenburg Syndrome Type 2 SNAI2 Snai2 hom early 57.885 HP:0005599,HP:0001053,HP:0002216,HP:0002211,HP:0001100 MP:0000367,MP:0002075 ORPHA:89838 Autosomal Recessive Generalized Epidermolysis Bullosa Simplex KRT14 Krt14 het embryo 18.335 HP:0007446,HP:0000972 MP:0000562,MP:0000564 ORPHA:89838 Autosomal Recessive Generalized Epidermolysis Bullosa Simplex KRT14 Krt14 hom embryo 18.335 HP:0007446,HP:0000972 MP:0000562,MP:0000564 ORPHA:89844 Lissencephaly Syndrome, Norman-Roberts Type RELN Reln het early 37.675 HP:0006270 MP:0002339,MP:0000702,MP:0000691,MP:0000689 ORPHA:899 Walker-Warburg Syndrome POMK Pomk het early 15.225 HP:0008736 MP:0002135 ORPHA:89936 X-Linked Hypophosphatemia PHEX Phex hom early 64.11 HP:0002979,HP:0005789,HP:0006432,HP:0004349,HP:0100686,HP:0008442,HP:0002970,HP:0012449,HP:0002869,HP:0100658,HP:0000694,HP:0001376,HP:0002748,HP:0008144,HP:0008117,HP:0006487,HP:0001363,HP:0003856,HP:0002857,HP:0001369,HP:0005930,HP:0002148,HP:0006490 MP:0002968,MP:0000552,MP:0000063,MP:0004599,MP:0000195,MP:0002896,MP:0000558,MP:0005108,MP:0008805,MP:0000198,MP:0005627,MP:0010123,MP:0010024,MP:0002932,MP:0000137 ORPHA:90153 Mandibuloacral Dysplasia With Type A Lipodystrophy LMNA Lmna het early 35.42 HP:0006710,HP:0000518,HP:0000855,HP:0009839,HP:0001870,HP:0009882 MP:0005292,MP:0009825,MP:0002764 ORPHA:90307 Parkes Weber Syndrome RASA1 Rasa1 het early 18.235 HP:0031138 MP:0000198 ORPHA:90321 Cockayne Syndrome Type 1 ERCC4 Ercc4 hom embryo 46.685 HP:0000528 MP:0001293 ORPHA:90321 Cockayne Syndrome Type 1 ERCC8 Ercc8 hom early 28.615 HP:0002355,HP:0001251,HP:0001288,HP:0003138 MP:0001392,MP:0005178,MP:0001556 ORPHA:90322 Cockayne Syndrome Type 2 ERCC8 Ercc8 hom early 29.4 HP:0002355,HP:0001251,HP:0001288 MP:0001392 ORPHA:90324 Cockayne Syndrome Type 3 ERCC8 Ercc8 hom early 24.43 HP:0002317,HP:0002355 MP:0001392 ORPHA:90340 Blau Syndrome NOD2 Nod2 hom early 37.4 HP:0001744,HP:0001392,HP:0010286,HP:0002716 MP:0002339,MP:0000702,MP:0001944,MP:0001146 ORPHA:90349 Autosomal Recessive Cutis Laxa Type 1 LTBP1 Ltbp1 hom early 25.11 HP:0001388,HP:0000023,HP:0002827,HP:0032153,HP:0100790,HP:0002756,HP:0000270 MP:0000552,MP:0004609,MP:0005108,MP:0010025 ORPHA:90354 Brittle Cornea Syndrome PRDM5 Prdm5 hom early 24.025 HP:0000405,HP:0000541,HP:0000407 MP:0008259,MP:0004738 ORPHA:90354 Brittle Cornea Syndrome ZNF469 Zfp469 hom early 32.455 HP:0000541,HP:0001131,HP:0200020,HP:0000407,HP:0000559,HP:0001119,HP:0100689,HP:0000405 MP:0001304,MP:0002699,MP:0004738 ORPHA:904 Williams Syndrome BAZ1B Baz1b het early 26.415 HP:0001531,HP:0003072,HP:0003236,HP:0001337,HP:0001513,HP:0003119 MP:0001486,MP:0000186,MP:0005179,MP:0003019,MP:0005567,MP:0001262 ORPHA:904 Williams Syndrome BAZ1B Baz1b hom early 24.78 HP:0001531,HP:0001513 MP:0001262 ORPHA:904 Williams Syndrome VPS37D Vps37d het early 23.05 HP:0001251,HP:0001136,HP:0001310,HP:0001288,HP:0002141 MP:0003733,MP:0001402,MP:0011965 ORPHA:904 Williams Syndrome VPS37D Vps37d het embryo 21.6 HP:0001337 MP:0001491 ORPHA:904 Williams Syndrome VPS37D Vps37d hom embryo 21.9 HP:0001337,HP:0000023 MP:0003385,MP:0001491 ORPHA:904 Williams Syndrome EIF4H Eif4h het early 24.48 HP:0004306,HP:0002623,HP:0001647,HP:0001629,HP:0001640,HP:0001136,HP:0001634,HP:0001671,HP:0001642,HP:0001631,HP:0001639,HP:0001636 MP:0000280,MP:0003733,MP:0003731,MP:0011965 ORPHA:904 Williams Syndrome EIF4H Eif4h hom embryo 22.885 HP:0004322,HP:0001645,HP:0001658,HP:0001635,HP:0100817,HP:0000822,HP:0001653,HP:0002637,HP:0001642,HP:0001537,HP:0001639,HP:0003298,HP:0004381 MP:0001697,MP:0001914,MP:0003984 ORPHA:904 Williams Syndrome BCL7B Bcl7b hom early 17.285 HP:0001136 MP:0003733,MP:0011965 ORPHA:904 Williams Syndrome FKBP6 Fkbp6 hom early 23.24 HP:0001337 MP:0001513 ORPHA:904 Williams Syndrome DNAJC30 Dnajc30 hom early 44.795 HP:0005978,HP:0003119,HP:0003072,HP:0003236 MP:0000194,MP:0005568,MP:0005292,MP:0013279 ORPHA:904 Williams Syndrome BUD23 Bud23 het early 22.385 HP:0005978 MP:0005560 ORPHA:904 Williams Syndrome NCF1 Ncf1 hom early 35.345 HP:0008736,HP:0001640,HP:0001310,HP:0001969,HP:0000121,HP:0000722,HP:0000076,HP:0000125,HP:0000075,HP:0001251,HP:0000089,HP:0000716,HP:0001288,HP:0002141,HP:0005562,HP:0100025,HP:0000010,HP:0000083,HP:0008661,HP:0100817,HP:0000014,HP:0000093,HP:0000787,HP:0002150,HP:0000015,HP:0007018 MP:0020870,MP:0001364,MP:0001402,MP:0003068,MP:0002135 ORPHA:904 Williams Syndrome NCF1 Ncf1 hom late 37.815 HP:0008736,HP:0001647,HP:0001640,HP:0001969,HP:0000121,HP:0000076,HP:0001631,HP:0000125,HP:0000075,HP:0002623,HP:0000089,HP:0001671,HP:0005562,HP:0001642,HP:0001636,HP:0000010,HP:0000083,HP:0008661,HP:0100817,HP:0000014,HP:0001081,HP:0001639,HP:0004969,HP:0004306,HP:0002205,HP:0001629,HP:0000093,HP:0000787,HP:0002150,HP:0001634,HP:0000015 MP:0001175,MP:0008725,MP:0000691,MP:0003604,MP:0000266,MP:0002989,MP:0000689,MP:0002135 ORPHA:90647 Jervell And Lange-Nielsen Syndrome KCNE1 Kcne1 hom early 31.225 HP:0001891,HP:0008619,HP:0011476 MP:0002590,MP:0004738,MP:0000219,MP:0000220,MP:0005016 ORPHA:90654 Stickler Syndrome Type 2 COL11A1 Col11a1 hom embryo 48.34 HP:0000175 MP:0009908,MP:0000111 ORPHA:90793 Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency CYP17A1 Cyp17a1 hom early 43.385 HP:0000048,HP:0008163,HP:0000047,HP:0010465,HP:0032362,HP:0008689,HP:0000138,HP:0002900,HP:0040314,HP:0000033,HP:0000151,HP:0000026,HP:0000054,HP:0001508,HP:0008730,HP:0003351 MP:0002968,MP:0005565,MP:0005553,MP:0005178,MP:0009204,MP:0001556,MP:0003961,MP:0000198,MP:0009198 ORPHA:90796 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency CYP17A1 Cyp17a1 hom early 42.765 HP:0008726,HP:0000047,HP:0000815,HP:0008675,HP:0000028,HP:0000037,HP:0012244,HP:0000939,HP:0012112,HP:0004349,HP:0000013,HP:0000147,HP:0000033,HP:0000054,HP:0001508,HP:0008734,HP:0008730 MP:0003795,MP:0000063,MP:0005178,MP:0009204,MP:0001556,MP:0003961,MP:0010124,MP:0009198 ORPHA:909 Cerebrotendinous Xanthomatosis CYP27A1 Cyp27a1 hom early 25.67 HP:0001081,HP:0011994,HP:0006579 MP:0000274,MP:0000266,MP:0002981 ORPHA:91 Aromatase Deficiency CYP19A1 Cyp19a1 hom early 31.22 HP:0003782,HP:0003077,HP:0001513 MP:0005565,MP:0005178,MP:0003961,MP:0002966,MP:0002965 ORPHA:91 Aromatase Deficiency CYP19A1 Cyp19a1 hom late 24.63 HP:0000855,HP:0005978 MP:0013279 ORPHA:91130 Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome SLC25A3 Slc25a3 het early 28.035 HP:0001639 MP:0000274,MP:0000266 ORPHA:912 Zellweger Syndrome PEX3 Pex3 hom early 41.415 HP:0001508,HP:0000518,HP:0007957,HP:0001088,HP:0010655,HP:0000627 MP:0001312,MP:0000062,MP:0001262,MP:0005542 ORPHA:912 Zellweger Syndrome PEX26 Pex26 het early 21.04 HP:0002240,HP:0000952 MP:0000691 ORPHA:912 Zellweger Syndrome PEX14 Pex14 het early 28.24 HP:0001088,HP:0000627,HP:0007957,HP:0000518 MP:0011960 ORPHA:912 Zellweger Syndrome PEX6 Pex6 het early 48.41 HP:0000518,HP:0000532,HP:0007957,HP:0001088,HP:0000648,HP:0000627 MP:0001312,MP:0008259,MP:0002792,MP:0001322,MP:0001304,MP:0001307,MP:0010097,MP:0006243,MP:0004222 ORPHA:912 Zellweger Syndrome PEX1 Pex1 het early 26.965 HP:0002240,HP:0000952,HP:0001399,HP:0001629 MP:0002753,MP:0000598 ORPHA:91347 Tsh-Secreting Pituitary Adenoma CDH23 Cdh23 hom early 35.385 HP:0000938,HP:0001337,HP:0000939,HP:0001824,HP:0002900 MP:0005633,MP:0000195,MP:0003019,MP:0010123,MP:0001523,MP:0006358,MP:0003960 ORPHA:91387 Familial Thoracic Aortic Aneurysm And Aortic Dissection PRKG1 Prkg1 het early 39.015 HP:0001647,HP:0001640 MP:0000274 ORPHA:91387 Familial Thoracic Aortic Aneurysm And Aortic Dissection PRKG1 Prkg1 hom early 18.605 HP:0002705,HP:0001640 MP:0000691,MP:0003271 ORPHA:91387 Familial Thoracic Aortic Aneurysm And Aortic Dissection TGFBR2 Tgfbr2 het early 39.925 HP:0001647,HP:0001640 MP:0003068,MP:0000274,MP:0000266 ORPHA:91387 Familial Thoracic Aortic Aneurysm And Aortic Dissection FOXE3 Foxe3 hom early 24.07 HP:0000525 MP:0001314 ORPHA:91387 Familial Thoracic Aortic Aneurysm And Aortic Dissection LOX Lox het early 24.65 HP:0002650,HP:0001640 MP:0002759,MP:0000691 ORPHA:91387 Familial Thoracic Aortic Aneurysm And Aortic Dissection ACTA2 Acta2 hom early 29.3 HP:0001647,HP:0001640 MP:0002834 ORPHA:91387 Familial Thoracic Aortic Aneurysm And Aortic Dissection FBN1 Fbn1 het early 17.215 HP:0001640 MP:0004952 ORPHA:915 Aarskog-Scott Syndrome FGD1 Fgd1 hem embryo 19.92 HP:0001537,HP:0004322 MP:0003984,MP:0001697 ORPHA:915 Aarskog-Scott Syndrome FGD1 Fgd1 het early 11.69 HP:0000028 MP:0000709 ORPHA:920 Ablepharon Macrostomia Syndrome TWIST2 Twist2 het early 16.775 HP:0000062,HP:0000055,HP:0008736,HP:0003187 MP:0001147,MP:0001146 ORPHA:93271 Short Rib-Polydactyly Syndrome, Verma-Naumoff Type IFT80 Ift80 het early 28.24 HP:0002983,HP:0001177,HP:0009106,HP:0001162,HP:0001773,HP:0004279,HP:0000944 MP:0000552,MP:0005108 ORPHA:93271 Short Rib-Polydactyly Syndrome, Verma-Naumoff Type IFT80 Ift80 hom early 28.845 HP:0001177,HP:0009106,HP:0001162,HP:0001773,HP:0004279,HP:0000944 MP:0004509 ORPHA:93271 Short Rib-Polydactyly Syndrome, Verma-Naumoff Type DYNC2I1 Dync2i1 het early 28.51 HP:0008736,HP:0008716,HP:0002032,HP:0000089,HP:0000107,HP:0004397,HP:0010297,HP:0000126,HP:0002023 MP:0000470,MP:0011874 ORPHA:93271 Short Rib-Polydactyly Syndrome, Verma-Naumoff Type DYNC2I1 Dync2i1 hom embryo 13.795 HP:0008873 MP:0003984 ORPHA:93298 Achondrogenesis Type 1B SLC26A2 Slc26a2 hom embryo 27.005 HP:0001773,HP:0001762,HP:0002983,HP:0000343 MP:0009908,MP:0002109 ORPHA:93307 Multiple Epiphyseal Dysplasia Type 4 SLC26A2 Slc26a2 hom embryo 31.685 HP:0005922,HP:0003016,HP:0010743,HP:0002812,HP:0000218,HP:0004002,HP:0010049,HP:0002986,HP:0008905,HP:0009778,HP:0001831,HP:0003031,HP:0008829,HP:0031878,HP:0040072,HP:0100864,HP:0001440,HP:0009471,HP:0009824,HP:0000175,HP:0001776,HP:0001762,HP:0001156,HP:0004037,HP:0009487,HP:0002857,HP:0009381,HP:0008826,HP:0006429 MP:0009908,MP:0002109 ORPHA:93356 Spondyloepimetaphyseal Dysplasia, Missouri Type MMP13 Mmp13 hom early 65.44 HP:0005086,HP:0003015,HP:0003071,HP:0002982,HP:0002980,HP:0010585,HP:0006385,HP:0003025,HP:0002970 MP:0002764 ORPHA:93384 Brachydactyly Type C GDF5 Gdf5 hom early 49.72 HP:0009684,HP:0010743,HP:0009773,HP:0009465,HP:0010579,HP:0010026,HP:0009373,HP:0005819,HP:0009606,HP:0004209,HP:0009495,HP:0010508 MP:0000062,MP:0000572,MP:0003795,MP:0000550,MP:0002110,MP:0000556 ORPHA:93384 Brachydactyly Type C BMPR1B Bmpr1b hom early 30.535 HP:0009684,HP:0010743,HP:0009773,HP:0009465,HP:0010026,HP:0009373,HP:0005819,HP:0009606,HP:0004209,HP:0009495,HP:0010508 MP:0000572,MP:0003795 ORPHA:93384 Brachydactyly Type C GDF5 Gdf5 hom early 18.68 HP:0009684 MP:0003795 ORPHA:93388 Brachydactyly Type A1 GDF5 Gdf5 hom early 44.095 HP:0003022,HP:0010109,HP:0009778,HP:0001773,HP:0010579,HP:0005819,HP:0001762,HP:0004209,HP:0001204,HP:0001230 MP:0000062,MP:0000572,MP:0000550,MP:0002110,MP:0000556 ORPHA:93388 Brachydactyly Type A1 BMPR1B Bmpr1b hom early 32.615 HP:0003022,HP:0010109,HP:0009778,HP:0001773,HP:0005819,HP:0001762,HP:0004209,HP:0001204,HP:0001230 MP:0000572 ORPHA:93396 Brachydactyly Type A2 GDF5 Gdf5 hom early 47.33 HP:0009568,HP:0001773,HP:0005819,HP:0009372,HP:0004209,HP:0004220,HP:0010038 MP:0000572,MP:0000550,MP:0000556,MP:0002110 ORPHA:93396 Brachydactyly Type A2 BMPR1B Bmpr1b hom early 29.735 HP:0009568,HP:0001773,HP:0005819,HP:0009372,HP:0004209,HP:0004220,HP:0010038 MP:0000572 ORPHA:93405 Syndactyly Type 4 SHH Shh het early 13.12 HP:0100490 MP:0010024 ORPHA:93552 Pediatric Systemic Lupus Erythematosus SPP1 Spp1 hom early 16.705 HP:0030880 MP:0006203 ORPHA:93552 Pediatric Systemic Lupus Erythematosus STAT4 Stat4 hom early 14.875 HP:0040319,HP:0000083,HP:0000093,HP:0000790,HP:0000100,HP:0000123 MP:0002135,MP:0002989 ORPHA:93921 Full Schwannomatosis COQ6 Coq6 het early 30.755 HP:0000518 MP:0001312 ORPHA:93921 Full Schwannomatosis SMARCB1 Smarcb1 het early 29 HP:0000518 MP:0011960,MP:0011962 ORPHA:93924 Lobar Holoprosencephaly SHH Shh het early 22.555 HP:0001508,HP:0002451 MP:0003961,MP:0001513,MP:0001488 ORPHA:93924 Lobar Holoprosencephaly DLL1 Dll1 het early 39.04 HP:0002871,HP:0002451,HP:0002540,HP:0005968,HP:0000716,HP:0000737,HP:0002013,HP:0002020,HP:0007018,HP:0002015,HP:0002019,HP:0001254,HP:0011951,HP:0001508,HP:0002793,HP:0006528 MP:0001362,MP:0002337,MP:0002757,MP:0012311,MP:0005586,MP:0001262,MP:0002862,MP:0001399,MP:0005534 ORPHA:93924 Lobar Holoprosencephaly NODAL Nodal het early 21.415 HP:0002451 MP:0001486 ORPHA:93924 Lobar Holoprosencephaly FGFR1 Fgfr1 hom embryo 16.58 HP:0001510,HP:0045005,HP:0004322 MP:0001697,MP:0003984 ORPHA:93924 Lobar Holoprosencephaly SHH Shh het early 14.335 HP:0001508,HP:0001371 MP:0003961,MP:0010024 ORPHA:93924 Lobar Holoprosencephaly NODAL Nodal het early 28.815 HP:0002540,HP:0001254,HP:0031860 MP:0001402,MP:0005542 ORPHA:93925 Alobar Holoprosencephaly SHH Shh het early 22.555 HP:0001508,HP:0002451 MP:0003961,MP:0001513,MP:0001488 ORPHA:93925 Alobar Holoprosencephaly DLL1 Dll1 het early 39.04 HP:0002871,HP:0002451,HP:0002540,HP:0005968,HP:0000716,HP:0000737,HP:0002013,HP:0002020,HP:0007018,HP:0002015,HP:0002019,HP:0001254,HP:0011951,HP:0001508,HP:0002793,HP:0006528 MP:0001362,MP:0002337,MP:0002757,MP:0012311,MP:0005586,MP:0001262,MP:0002862,MP:0001399,MP:0005534 ORPHA:93925 Alobar Holoprosencephaly NODAL Nodal het early 21.415 HP:0002451 MP:0001486 ORPHA:93925 Alobar Holoprosencephaly SHH Shh het early 14.335 HP:0001508,HP:0001371 MP:0003961,MP:0010024 ORPHA:93925 Alobar Holoprosencephaly NODAL Nodal het early 28.815 HP:0002540,HP:0001254,HP:0031860 MP:0001402,MP:0005542 ORPHA:93926 Midline Interhemispheric Variant Of Holoprosencephaly SHH Shh het early 22.555 HP:0001508,HP:0002451 MP:0003961,MP:0001513,MP:0001488 ORPHA:93926 Midline Interhemispheric Variant Of Holoprosencephaly DLL1 Dll1 het early 39.04 HP:0002871,HP:0002451,HP:0002540,HP:0005968,HP:0000716,HP:0000737,HP:0002013,HP:0002020,HP:0007018,HP:0002015,HP:0002019,HP:0001254,HP:0011951,HP:0001508,HP:0002793,HP:0006528 MP:0001362,MP:0002337,MP:0002757,MP:0012311,MP:0005586,MP:0001262,MP:0002862,MP:0001399,MP:0005534 ORPHA:93926 Midline Interhemispheric Variant Of Holoprosencephaly NODAL Nodal het early 21.415 HP:0002451 MP:0001486 ORPHA:93926 Midline Interhemispheric Variant Of Holoprosencephaly SHH Shh het early 14.335 HP:0001508,HP:0001371 MP:0003961,MP:0010024 ORPHA:93926 Midline Interhemispheric Variant Of Holoprosencephaly NODAL Nodal het early 28.815 HP:0002540,HP:0001254,HP:0031860 MP:0001402,MP:0005542 ORPHA:94064 Deafness-Infertility Syndrome CATSPER2 Catsper2 hom early 82.365 HP:0003251,HP:0000027 MP:0001925 ORPHA:94089 Pseudohypoparathyroidism Type 1B GNAS Gnas hom early 21.455 HP:0012049 MP:0001488 ORPHA:94089 Pseudohypoparathyroidism Type 1B STX16 Stx16 hom early 41.28 HP:0003761,HP:0011001,HP:0003034,HP:0000716,HP:0000737,HP:0002905,HP:0002901,HP:0005700,HP:0003472,HP:0002199 MP:0020870,MP:0002968,MP:0002941,MP:0001415,MP:0005627,MP:0010123,MP:0005419,MP:0005344 ORPHA:941 D-Glyceric Aciduria GLYCTK Glyctk hom early 21.49 HP:0002154,HP:0008288,HP:0030781 MP:0002968 ORPHA:952 Acrofacial Dysostosis, Weyers Type EVC2 Evc2 hom early 40.14 HP:0000164,HP:0000698,HP:0000190,HP:0006315,HP:0000668,HP:0006288 MP:0030610 ORPHA:95433 Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome PEX6 Pex6 het early 45.36 HP:0000524,HP:0000648,HP:0002346 MP:0001312,MP:0008259,MP:0002792,MP:0001322,MP:0001304,MP:0001307,MP:0010097,MP:0006243,MP:0004222 ORPHA:95494 Combined Pituitary Hormone Deficiencies, Genetic Forms HESX1 Hesx1 hom embryo 27.65 HP:0100842,HP:0000609,HP:0008501 MP:0001293,MP:0000111 ORPHA:95496 Pituitary Stalk Interruption Syndrome WDR11 Wdr11 het late 32.66 HP:0000028,HP:0008736,HP:0001943,HP:0011755 MP:0002997,MP:0003068,MP:0005292,MP:0003642,MP:0002135 ORPHA:95496 Pituitary Stalk Interruption Syndrome WDR11 Wdr11 hom early 23.725 HP:0000028,HP:0100842,HP:0008736,HP:0000786 MP:0009709,MP:0001293,MP:0001925,MP:0001120 ORPHA:95496 Pituitary Stalk Interruption Syndrome WDR11 Wdr11 hom late 45.77 HP:0011755,HP:0008736,HP:0000835,HP:0000028,HP:0000821,HP:0000823,HP:0000864,HP:0000873 MP:0005313,MP:0002997,MP:0003642 ORPHA:95496 Pituitary Stalk Interruption Syndrome HESX1 Hesx1 hom embryo 18.785 HP:0100842 MP:0001293 ORPHA:95706 Non-Syndromic Posterior Hypospadias MAMLD1 Mamld1 hom early 20.33 HP:0001539,HP:0001518,HP:0000776 MP:0003961,MP:0010024 ORPHA:95716 Familial Thyroid Dyshormonogenesis SLC5A5 Slc5a5 hom early 34.485 HP:0008828,HP:0025483,HP:0003265,HP:0000407 MP:0002968,MP:0000063,MP:0005178,MP:0001556,MP:0004738 ORPHA:95716 Familial Thyroid Dyshormonogenesis DUOXA2 Duoxa2 hom early 40.8 HP:0025482,HP:0008263,HP:0000853,HP:0008828,HP:0000407,HP:0002925,HP:0031220,HP:0000851,HP:0005930,HP:0031507,HP:0001537,HP:0025483,HP:0003265,HP:0000270,HP:0031219 MP:0005565,MP:0003795,MP:0005568,MP:0008805,MP:0010025,MP:0008810,MP:0005298,MP:0002965,MP:0000194,MP:0005178,MP:0000558,MP:0005108,MP:0010124,MP:0000182,MP:0000552,MP:0001556,MP:0004738,MP:0010024,MP:0002932,MP:0005633,MP:0000063,MP:0005296,MP:0005553,MP:0005478,MP:0000559 ORPHA:95716 Familial Thyroid Dyshormonogenesis TG Tg hom early 48.17 HP:0001254,HP:0000407,HP:0001662,HP:0008828 MP:0010506,MP:0002757,MP:0001402,MP:0004738,MP:0010123 ORPHA:95716 Familial Thyroid Dyshormonogenesis TPO Tpo hom early 34.275 HP:0008828,HP:0025483,HP:0003265,HP:0006579 MP:0005343,MP:0000550,MP:0005553,MP:0005178,MP:0004953,MP:0000556,MP:0008810 ORPHA:95716 Familial Thyroid Dyshormonogenesis DUOX2 Duox2 hom early 37.07 HP:0025483,HP:0003265,HP:0006579 MP:0000601,MP:0000691,MP:0005553,MP:0000194,MP:0005178,MP:0005568,MP:0001556,MP:0000598,MP:0000689,MP:0003402,MP:0000692,MP:0002965 ORPHA:96147 Kleefstra Syndrome Due To 9Q34 Microdeletion EHMT1 Ehmt1 het early 33.095 HP:0000737,HP:0001508,HP:0001513,HP:0000716 MP:0001363,MP:0003960,MP:0002797,MP:0001417 ORPHA:96184 Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 DLK1 Dlk1 hom early 29.585 HP:0001956,HP:0001518,HP:0001513,HP:0004904 MP:0003961,MP:0005560 ORPHA:96253 Cushing Disease CDH23 Cdh23 hom early 34.305 HP:0000819,HP:0025383,HP:0040270,HP:0001974,HP:0000939,HP:0004324,HP:0001956,HP:0012743,HP:0031891,HP:0001888 MP:0000221,MP:0005561,MP:0010025,MP:0010123,MP:0013278,MP:0003960,MP:0005560 ORPHA:96253 Cushing Disease TP53 Trp53 hom early 30.615 HP:0031891,HP:0001974,HP:0001888,HP:0007807 MP:0001325,MP:0001289,MP:0012362 ORPHA:963 Acromegaly GPR101 Gpr101 hem early 26.135 HP:0000716 MP:0020870,MP:0001364 ORPHA:96334 Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 DLK1 Dlk1 hom early 16.945 HP:0001539,HP:0001220,HP:0001520,HP:0001371,HP:0001433,HP:0012385,HP:0004299 MP:0003961,MP:0005561,MP:0010024 ORPHA:968 Acromesomelic Dysplasia, Hunter-Thompson Type GDF5 Gdf5 hom early 47.08 HP:0010049,HP:0001156,HP:0008368,HP:0006011,HP:0001387,HP:0003042,HP:0009778,HP:0002827,HP:0002644,HP:0100543,HP:0003086,HP:0006014,HP:0007598 MP:0000062,MP:0000572,MP:0000550,MP:0002110,MP:0000556,MP:0001417 ORPHA:97244 Rigid Spine Syndrome SELENON Selenon hom early 35.3 HP:0003273,HP:0003307,HP:0003306,HP:0002987,HP:0003089,HP:0002650 MP:0004609 ORPHA:97286 Carney-Stratakis Syndrome SDHC Sdhc het early 23.305 HP:0001824 MP:0001260 ORPHA:97297 Bohring-Opitz Syndrome ASXL1 Asxl1 het early 25.385 HP:0001373,HP:0005487,HP:0001105,HP:0003049,HP:0001376,HP:0012453,HP:0000648,HP:0002803,HP:0006471 MP:0004609,MP:0006243 ORPHA:974 Adams-Oliver Syndrome DOCK6 Dock6 het early 27.895 HP:0001882,HP:0001873 MP:0005564,MP:0003131 ORPHA:974 Adams-Oliver Syndrome ARHGAP31 Arhgap31 het embryo 13.965 HP:0002084 MP:0001697 ORPHA:974 Adams-Oliver Syndrome ARHGAP31 Arhgap31 hom embryo 29.315 HP:0002239,HP:0002092,HP:0001541,HP:0001409 MP:0001785,MP:0001914 ORPHA:98 Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay SACS Sacs het early 13 HP:0000020 MP:0002135 ORPHA:98673 Autosomal Dominant Optic Atrophy, Classic Form DNM1L Dnm1l het early 45.695 HP:0012511,HP:0000518,HP:0000648,HP:0025514 MP:0001312,MP:0008259,MP:0002699,MP:0001289 ORPHA:98758 Spinocerebellar Ataxia Type 6 CACNA1A Cacna1a het early 27.685 HP:0002015,HP:0030842 MP:0020421 ORPHA:98768 Spinocerebellar Ataxia Type 13 KCNC3 Kcnc3 hom early 20.585 HP:0002015 MP:0001399 ORPHA:98768 Spinocerebellar Ataxia Type 13 KCNC3 Kcnc3 hom late 25.76 HP:0002355,HP:0002015,HP:0002070,HP:0002066 MP:0001399,MP:0002574 ORPHA:98768 Spinocerebellar Ataxia Type 13 KCNC3 Kcnc3 hom early 20.585 HP:0002015 MP:0001399 ORPHA:98772 Spinocerebellar Ataxia Type 19/22 KCND3 Kcnd3 hom early 33.09 HP:0002136,HP:0001251,HP:0002070,HP:0002355,HP:0002078 MP:0001402,MP:0002574 ORPHA:98773 Spinocerebellar Ataxia Type 21 TMEM240 Tmem240 hom early 52.05 HP:0002304,HP:0001337,HP:0002063,HP:0002066,HP:0002073,HP:0002071,HP:0100543 MP:0000745,MP:0001392,MP:0001415 ORPHA:98784 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy CABP4 Cabp4 hom early 36.62 HP:0000733,HP:0007018 MP:0001399 ORPHA:98784 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy KCNT1 Kcnt1 hom early 37.12 HP:0000020,HP:0000716,HP:0100543,HP:0007018,HP:0000733 MP:0020870,MP:0001364,MP:0002989,MP:0002135,MP:0001417 ORPHA:98784 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy CHRNA2 Chrna2 hom early 12.795 HP:0000020 MP:0002135,MP:0002989 ORPHA:98794 Angelman Syndrome Due To Maternal 15Q11Q13 Deletion UBE3A Ube3a het early 42.08 HP:0000752,HP:0002136,HP:0001251,HP:0100738,HP:0100703,HP:0002141,HP:0000748,HP:0002015,HP:0100023 MP:0001402,MP:0011940 ORPHA:98794 Angelman Syndrome Due To Maternal 15Q11Q13 Deletion UBE3A Ube3a hom early 49.325 HP:0000736,HP:0000752,HP:0002136,HP:0001251,HP:0100738,HP:0100703,HP:0000748,HP:0002141,HP:0002015,HP:0100023 MP:0011940,MP:0002757,MP:0001402,MP:0001399,MP:0001417 ORPHA:98795 Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 UBE3A Ube3a het early 35.615 HP:0002136,HP:0100703,HP:0002141,HP:0002015 MP:0001402,MP:0011940 ORPHA:98795 Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 UBE3A Ube3a hom early 36.775 HP:0002136,HP:0100703,HP:0002141,HP:0002015 MP:0001399,MP:0001402,MP:0011940,MP:0002757 ORPHA:98809 Paroxysmal Kinesigenic Dyskinesia PRRT2 Prrt2 hom early 36.78 HP:0002305,HP:0002356,HP:0001332 MP:0001489 ORPHA:98810 Paroxysmal Non-Kinesigenic Dyskinesia PRRT2 Prrt2 hom early 34.615 HP:0001266,HP:0000473,HP:0001332 MP:0001489 ORPHA:98811 Paroxysmal Exertion-Induced Dyskinesia PRRT2 Prrt2 hom early 33.5 HP:0001266,HP:0001304,HP:0001332 MP:0001489 ORPHA:98849 Systemic Mastocytosis With Associated Hematologic Neoplasm ASXL1 Asxl1 het early 36.03 HP:0001897,HP:0004808,HP:0011897,HP:0001880,HP:0001744,HP:0001974,HP:0002653,HP:0000939,HP:0005550,HP:0012325,HP:0002659,HP:0001895,HP:0031807,HP:0005547,HP:0012324,HP:0100494,HP:0001873 MP:0004609,MP:0005562,MP:0002874,MP:0002591,MP:0000208 ORPHA:98850 Aggressive Systemic Mastocytosis ASXL1 Asxl1 het early 40.725 HP:0001876,HP:0002039,HP:0001971,HP:0001873,HP:0001974,HP:0002653,HP:0000939,HP:0002797,HP:0001433,HP:0031408,HP:0001875,HP:0002756,HP:0001909,HP:0100494,HP:0001903 MP:0004609,MP:0001399,MP:0005562,MP:0002874,MP:0002591,MP:0000208 ORPHA:98850 Aggressive Systemic Mastocytosis CBL Cbl het early 17.69 HP:0002615,HP:0002239,HP:0001409 MP:0003896 ORPHA:98853 Autosomal Dominant Emery-Dreifuss Muscular Dystrophy LMNA Lmna het early 14.92 HP:0001771,HP:0008956 MP:0002764 ORPHA:98853 Autosomal Dominant Emery-Dreifuss Muscular Dystrophy SYNE2 Syne2 hom early 35.37 HP:0009125,HP:0001771,HP:0002987,HP:0001513,HP:0004631 MP:0003960,MP:0010025 ORPHA:98855 Autosomal Recessive Emery-Dreifuss Muscular Dystrophy LMNA Lmna het early 15.385 HP:0002600,HP:0001771,HP:0008956 MP:0002764 ORPHA:98856 Charcot-Marie-Tooth Disease Type 2B1 LMNA Lmna het early 24.275 HP:0011916,HP:0009049,HP:0001760,HP:0001765,HP:0008956,HP:0001761,HP:0009053 MP:0002764 ORPHA:98863 X-Linked Emery-Dreifuss Muscular Dystrophy FHL1 Fhl1 hom early 29.785 HP:0003141,HP:0002155,HP:0003236 MP:0005179 ORPHA:98863 X-Linked Emery-Dreifuss Muscular Dystrophy EMD Emd hem early 20.455 HP:0003141,HP:0002155,HP:0003236 MP:0001566 ORPHA:98863 X-Linked Emery-Dreifuss Muscular Dystrophy EMD Emd hom early 20.455 HP:0003141,HP:0002155,HP:0003236 MP:0001566 ORPHA:98880 Familial Afibrinogenemia FGB Fgb het embryo 35.025 HP:0001386 MP:0001785 ORPHA:98880 Familial Afibrinogenemia FGB Fgb hom embryo 35.025 HP:0001386 MP:0001785 ORPHA:98892 Periventricular Nodular Heterotopia TMTC3 Tmtc3 het early 23.08 HP:0001659 MP:0004122,MP:0003928 ORPHA:98895 Becker Muscular Dystrophy DMD Dmd hem early 38.91 HP:0003236 MP:0005343,MP:0002941 ORPHA:98895 Becker Muscular Dystrophy DMD Dmd hom early 41.41 HP:0003236 MP:0002968,MP:0005343,MP:0002941,MP:0005568,MP:0002965 ORPHA:98896 Duchenne Muscular Dystrophy DMD Dmd hem early 44.195 HP:0001371,HP:0003236 MP:0005343,MP:0002941,MP:0010025 ORPHA:98896 Duchenne Muscular Dystrophy DMD Dmd hom early 45.725 HP:0001371,HP:0003236 MP:0002968,MP:0005343,MP:0002941,MP:0005568,MP:0010025,MP:0002965 ORPHA:98907 Neutral Lipid Storage Disease With Ichthyosis ABHD5 Abhd5 hom early 21.93 HP:0001513 MP:0001262 ORPHA:98912 Late-Onset Distal Myopathy, Markesbery-Griggs Type LDB3 Ldb3 het early 53.385 HP:0012722,HP:0005162,HP:0001638,HP:0001288,HP:0002505 MP:0010392,MP:0001402 ORPHA:98913 Postsynaptic Congenital Myasthenic Syndromes DOK7 Dok7 het early 15.835 HP:0010628 MP:0004738 ORPHA:98914 Presynaptic Congenital Myasthenic Syndromes SLC5A7 Slc5a7 het early 14.345 HP:0002804 MP:0010025 ORPHA:98914 Presynaptic Congenital Myasthenic Syndromes SLC25A1 Slc25a1 hom embryo 24.75 HP:0000407,HP:0000218,HP:0000369 MP:0009908,MP:0002102 ORPHA:98914 Presynaptic Congenital Myasthenic Syndromes SLC25A1 Slc25a1 hom embryo 27.495 HP:0001561 MP:0001785 ORPHA:98974 Fuchs Endothelial Corneal Dystrophy AGBL1 Agbl1 hom late 42.015 HP:0011488,HP:0011491,HP:0011490,HP:0007957 MP:0001304,MP:0001303,MP:0001307,MP:0004222 ORPHA:99103 Atrial Septal Defect, Ostium Secundum Type TBX20 Tbx20 het early 25.165 HP:0005133,HP:0001633,HP:0030718 MP:0000266,MP:0002188 ORPHA:99103 Atrial Septal Defect, Ostium Secundum Type TBX20 Tbx20 hom embryo 40.015 HP:0011710,HP:0011705,HP:0005133,HP:0005162,HP:0004755,HP:0005180,HP:0012250,HP:0004749,HP:0012382,HP:0001708,HP:0001653,HP:0001279,HP:0031664,HP:0005110,HP:0002326,HP:0005115,HP:0005317,HP:0001635,HP:0001962,HP:0001633,HP:0002092,HP:0011675,HP:0030718 MP:0000266,MP:0000269,MP:0001914 ORPHA:994 Fetal Akinesia Deformation Sequence DOK7 Dok7 het early 11.755 HP:0000358 MP:0004738 ORPHA:994 Fetal Akinesia Deformation Sequence TUBA1A Tuba1a hom embryo 30.35 HP:0001511,HP:0001561 MP:0001785,MP:0001697 ORPHA:99657 Primary Dystonia, Dyt2 Type HPCA Hpca hom early 26.275 HP:0002355 MP:0001392 ORPHA:99798 Oligodontia MSX1 Msx1 hom embryo 47.115 HP:0000202,HP:0000677,HP:0011053,HP:0000687,HP:0000691,HP:0006482,HP:0006344,HP:0000685,HP:0006289,HP:0000684,HP:0011056,HP:0000689,HP:0000690,HP:0000679,HP:0006342,HP:0006297,HP:0011051,HP:0011078,HP:0000696,HP:0006336,HP:0012472 MP:0000111 ORPHA:99798 Oligodontia WNT10A Wnt10a hom early 11.29 HP:0006297 MP:0010025 ORPHA:99798 Oligodontia AXIN2 Axin2 hom embryo 34.62 HP:0000202,HP:0000677,HP:0011053,HP:0000687,HP:0000691,HP:0006482,HP:0006344,HP:0000685,HP:0006289,HP:0000684,HP:0011056,HP:0000689,HP:0000690,HP:0000679,HP:0006342,HP:0006297,HP:0011051,HP:0011078,HP:0000696,HP:0006336,HP:0012472 MP:0009908 ORPHA:99885 Isolated Permanent Neonatal Diabetes Mellitus PDX1 Pdx1 het early 29.95 HP:0003074,HP:0000857,HP:0003076 MP:0005293 ORPHA:99885 Isolated Permanent Neonatal Diabetes Mellitus KCNJ11 Kcnj11 hom early 32.34 HP:0003074,HP:0000857,HP:0000365,HP:0003076 MP:0013278,MP:0002102,MP:0005293 ORPHA:99885 Isolated Permanent Neonatal Diabetes Mellitus GCK Gck het early 41.82 HP:0003074,HP:0000857,HP:0003076 MP:0005559,MP:0013279,MP:0005293 ORPHA:99885 Isolated Permanent Neonatal Diabetes Mellitus ABCC8 Abcc8 hom early 31.65 HP:0000857,HP:0001824,HP:0003076,HP:0003074,HP:0001508 MP:0003960,MP:0005293 ORPHA:99886 Transient Neonatal Diabetes Mellitus KCNJ11 Kcnj11 hom early 49.4 HP:0009800,HP:0004904,HP:0008255,HP:0001953,HP:0003074,HP:0040216,HP:0000365 MP:0013278,MP:0002102,MP:0005293 ORPHA:99886 Transient Neonatal Diabetes Mellitus ABCC8 Abcc8 hom early 49.65 HP:0001518,HP:0009800,HP:0004904,HP:0008255,HP:0001953,HP:0003074,HP:0001508,HP:0040216 MP:0003960,MP:0005293 ORPHA:99947 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 MFN2 Mfn2 het early 39.185 HP:0006915,HP:0003376 MP:0001406 ORPHA:99950 Charcot-Marie-Tooth Disease Type 4D NDRG1 Ndrg1 hom early 46.56 HP:0002540,HP:0002317,HP:0002174 MP:0000745,MP:0001406