hgnc_id	gene_symbol	panelapp_selected_panels	mode_of_inheritance	mode_of_inheritance_summary	hpo_top_level_term	one2one_ortholog_mgi_id	viability	top_level_mp_term_id_homozygote	top_level_mp_term_name_homozygote	mp_term_id_homozygote	mp_term_name_homozygote	top_level_mp_term_id_heterozygote	top_level_mp_term_name_heterozygote	mp_term_id_heterozygote	mp_term_name_heterozygote	top_level_mp_term_id_hemizygote	top_level_mp_term_name_hemizygote	mp_term_id_hemizygote	mp_term_name_hemizygote
HGNC:10023	RIT1	Cardiomyopathies - including childhood onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	monoallelic	Abnormality of blood and blood-forming tissues|Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of prenatal development or birth|Abnormality of the breast|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the endocrine system|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Growth abnormality	MGI:108053	viable	MP:0005367,MP:0005376,MP:0005378,MP:0005391,MP:0005397	renal/urinary system phenotype,homeostasis/metabolism phenotype,growth/size/body region phenotype,vision/eye phenotype,hematopoietic system phenotype	MP:0003068,MP:0002135,MP:0002968,MP:0005343,MP:0001293,MP:0010067,MP:0002599	enlarged kidney,abnormal kidney morphology,increased circulating alkaline phosphatase level,increased circulating aspartate transaminase level,anophthalmia,increased red blood cell distribution width,increased mean platelet volume	-	-	-	-	-	-	-	-
HGNC:10484	RYR2	Cardiac arrhythmias|Cardiomyopathies - including childhood onset|Catecholaminergic polymorphic VT|Dilated cardiomyopathy - adult and teen|Idiopathic ventricular fibrillation	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown|MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	monoallelic	Abnormality of the cardiovascular system|Abnormality of the ear|Abnormality of the nervous system|Constitutional symptom	MGI:99685	lethal	MP:0010768	mortality/aging	MP:0011100	preweaning lethality, complete penetrance	MP:0005386	behavior/neurological phenotype	MP:0001488	increased startle reflex	-	-	-	-
HGNC:10593	SCN5A	Brugada syndrome|Cardiac arrhythmias|Cardiomyopathies - including childhood onset|Dilated cardiomyopathy - adult and teen|Dilated Cardiomyopathy and conduction defects|Long QT syndrome	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	monoallelic	Abnormality of blood and blood-forming tissues|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Constitutional symptom	MGI:98251	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:10603	SCO1	Cardiomyopathies - including childhood onset	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormal cellular phenotype|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the genitourinary system|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Growth abnormality	MGI:106362	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:10604	SCO2	Cardiomyopathies - including childhood onset	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormality of blood and blood-forming tissues|Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Growth abnormality	MGI:3818630	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:10807	SGCD	Dilated Cardiomyopathy and conduction defects	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	both	Abnormality of blood and blood-forming tissues|Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the ear|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system	MGI:1346525	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:10909	SLC40A1	Dilated Cardiomyopathy and conduction defects	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	monoallelic	Abnormality of blood and blood-forming tissues|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the endocrine system|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the integument|Abnormality of the musculoskeletal system|Constitutional symptom	MGI:1315204	lethal	MP:0010768	mortality/aging	MP:0011100,MP:0013293	preweaning lethality, complete penetrance,embryonic lethality prior to tooth bud stage	MP:0005376,MP:0005378,MP:0005390	homeostasis/metabolism phenotype,growth/size/body region phenotype,skeleton phenotype	MP:0001552,MP:0003961,MP:0010124,MP:0000063	increased circulating triglyceride level,decreased lean body mass,decreased bone mineral content,decreased bone mineral density	-	-	-	-
HGNC:10969	SLC22A5	Cardiomyopathies - including childhood onset	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	both	Abnormal cellular phenotype|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Growth abnormality	MGI:1329012	lethal	MP:0010768	mortality/aging	MP:0011100,MP:0013292	preweaning lethality, complete penetrance,embryonic lethality prior to organogenesis	-	-	-	-	-	-	-	-
HGNC:10990	SLC25A4	Cardiomyopathies - including childhood onset	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	both	Abnormal cellular phenotype|Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the endocrine system|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Constitutional symptom|Growth abnormality	MGI:1353495	viable	MP:0005376,MP:0005378,MP:0005385,MP:0005390	homeostasis/metabolism phenotype,growth/size/body region phenotype,cardiovascular system phenotype,skeleton phenotype	MP:0005292,MP:0000194,MP:0005565,MP:0002079,MP:0003020,MP:0002968,MP:0002833,MP:0004613	improved glucose tolerance,increased circulating calcium level,increased blood urea nitrogen level,increased circulating insulin level,decreased circulating chloride level,increased circulating alkaline phosphatase level,increased heart weight,fusion of vertebral arches	-	-	-	-	-	-	-	-
HGNC:11187	SOS1	Cardiomyopathies - including childhood onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	monoallelic	Abnormality of blood and blood-forming tissues|Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of prenatal development or birth|Abnormality of the breast|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the endocrine system|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Growth abnormality|Neoplasm	MGI:98354	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:11188	SOS2	Cardiomyopathies - including childhood onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	monoallelic	Abnormality of blood and blood-forming tissues|Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of prenatal development or birth|Abnormality of the breast|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the endocrine system|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Growth abnormality	MGI:98355	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:11577	TAZ	Cardiomyopathies - including childhood onset|Dilated Cardiomyopathy and conduction defects|Left Ventricular Noncompaction Cardiomyopathy	X-LINKED: hemizygous mutation in males, biallelic mutations in females|X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	X-linked	Abnormal cellular phenotype|Abnormality of blood and blood-forming tissues|Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the ear|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Constitutional symptom|Growth abnormality	MGI:109626	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:11604	TBX5	Familial non syndromic congenital heart disease	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	monoallelic	Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Constitutional symptom	MGI:102541	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:11610	TCAP	Dilated Cardiomyopathy and conduction defects	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	monoallelic	Abnormality of blood and blood-forming tissues|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the ear|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system	MGI:1330233	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:11762	TFR2	Dilated Cardiomyopathy and conduction defects	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormality of blood and blood-forming tissues|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the endocrine system|Abnormality of the genitourinary system|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Constitutional symptom	MGI:1354956	viable	MP:0005370,MP:0005376,MP:0005378,MP:0005381,MP:0005385,MP:0005397	liver/biliary system phenotype,homeostasis/metabolism phenotype,growth/size/body region phenotype,digestive/alimentary phenotype,cardiovascular system phenotype,hematopoietic system phenotype	MP:0000598,MP:0008810,MP:0000274,MP:0000495,MP:0000492,MP:0000266,MP:0000226,MP:0002590,MP:0005563,MP:0002875,MP:0005564,MP:0005640,MP:0005561,MP:0005641,MP:0001586,MP:0001589	abnormal liver morphology,increased circulating iron level,enlarged heart,abnormal colon morphology,abnormal rectum morphology,abnormal heart morphology,abnormal mean corpuscular volume,increased mean corpuscular volume,abnormal hemoglobin content,decreased erythrocyte cell number,increased hemoglobin content,abnormal mean corpuscular hemoglobin concentration,increased mean corpuscular hemoglobin,increased mean corpuscular hemoglobin concentration,abnormal erythrocyte cell number,abnormal mean corpuscular hemoglobin	-	-	-	-	-	-	-	-
HGNC:11843	TLL1	Familial non syndromic congenital heart disease	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	monoallelic	Abnormality of blood and blood-forming tissues|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Constitutional symptom|Growth abnormality	MGI:106923	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:11943	TNNC1	Cardiomyopathies - including childhood onset|Dilated cardiomyopathy - adult and teen|Dilated Cardiomyopathy and conduction defects|Hypertrophic cardiomyopathy - teen and adult	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	monoallelic	Abnormality of blood and blood-forming tissues|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the ear|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the respiratory system|Constitutional symptom	MGI:98779	lethal	MP:0010768	mortality/aging	MP:0013293,MP:0011100,MP:0013294	embryonic lethality prior to tooth bud stage,preweaning lethality, complete penetrance,prenatal lethality prior to heart atrial septation	MP:0005378,MP:0005380	growth/size/body region phenotype,embryo phenotype	MP:0001697	abnormal embryo size	-	-	-	-
HGNC:11947	TNNI3	Cardiomyopathies - including childhood onset|Dilated cardiomyopathy - adult and teen|Dilated Cardiomyopathy and conduction defects|Hypertrophic cardiomyopathy - teen and adult	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	both	Abnormality of blood and blood-forming tissues|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Constitutional symptom|Growth abnormality	MGI:98783	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:11949	TNNT2	Cardiomyopathies - including childhood onset|Dilated cardiomyopathy - adult and teen|Dilated Cardiomyopathy and conduction defects|Hypertrophic cardiomyopathy - teen and adult|Left Ventricular Noncompaction Cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted|MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	monoallelic	Abnormality of blood and blood-forming tissues|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Constitutional symptom|Growth abnormality	MGI:104597	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:12010	TPM1	Cardiomyopathies - including childhood onset|Dilated cardiomyopathy - adult and teen|Dilated Cardiomyopathy and conduction defects|Hypertrophic cardiomyopathy - teen and adult|Left Ventricular Noncompaction Cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted|MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	monoallelic	Abnormality of blood and blood-forming tissues|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the ear|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system	MGI:98809	-	-	-	-	-	MP:0005376,MP:0005378,MP:0005385,MP:0005386	homeostasis/metabolism phenotype,growth/size/body region phenotype,cardiovascular system phenotype,behavior/neurological phenotype	MP:0008821,MP:0005553,MP:0010090,MP:0002833,MP:0001262,MP:0001488,MP:0001973	increased blood uric acid level,increased circulating creatinine level,increased circulating creatine kinase level,increased heart weight,decreased body weight,increased startle reflex,increased thermal nociceptive threshold	-	-	-	-
HGNC:12261	TRDN	Cardiac arrhythmias|Catecholaminergic polymorphic VT	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the ear|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Constitutional symptom	MGI:1924007	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:12367	TSFM	Cardiomyopathies - including childhood onset	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormal cellular phenotype|Abnormality of metabolism/homeostasis|Abnormality of prenatal development or birth|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the eye|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Growth abnormality	MGI:1913649	lethal	MP:0010768	mortality/aging	MP:0011100	preweaning lethality, complete penetrance	MP:0005391	vision/eye phenotype	MP:0001325	abnormal retina morphology	-	-	-	-
HGNC:12382	TSPYL1	Sudden death in young people	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormality of head or neck|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the nervous system|Abnormality of the respiratory system|Abnormality of the voice|Growth abnormality	-	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:12403	TTN	Cardiomyopathies - including childhood onset|Dilated cardiomyopathy - adult and teen|Dilated Cardiomyopathy and conduction defects	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted|MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	monoallelic	Abnormal cellular phenotype|Abnormality of blood and blood-forming tissues|Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the ear|Abnormality of the eye|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Abnormality of the voice|Constitutional symptom|Growth abnormality	MGI:98864	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:12405	TTR	Cardiomyopathies - including childhood onset|Hypertrophic cardiomyopathy - teen and adult	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	monoallelic	Abnormality of blood and blood-forming tissues|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Constitutional symptom|Growth abnormality	MGI:98865	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:12665	VCL	Cardiomyopathies - including childhood onset|Dilated cardiomyopathy - adult and teen|Dilated Cardiomyopathy and conduction defects	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	monoallelic	Abnormality of blood and blood-forming tissues|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the ear|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the respiratory system	MGI:98927	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:12874	ZIC3	Familial non syndromic congenital heart disease	X-LINKED: hemizygous mutation in males, biallelic mutations in females	X-linked	Abnormality of limbs|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Growth abnormality	MGI:106676	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:129	ACTA1	Cardiomyopathies - including childhood onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	monoallelic	Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of prenatal development or birth|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the immune system|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Abnormality of the voice|Constitutional symptom|Growth abnormality	MGI:87902	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:1390	CACNA1C	Cardiac arrhythmias|Cardiomyopathies - including childhood onset|Hypertrophic cardiomyopathy - teen and adult|Long QT syndrome	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted|MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	monoallelic	Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the endocrine system|Abnormality of the immune system|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Constitutional symptom	MGI:103013	lethal	MP:0010768	mortality/aging	MP:0013294,MP:0011100	prenatal lethality prior to heart atrial septation,preweaning lethality, complete penetrance	MP:0005367,MP:0005370,MP:0005378,MP:0005380,MP:0005386,MP:0005387,MP:0005397	renal/urinary system phenotype,liver/biliary system phenotype,growth/size/body region phenotype,embryo phenotype,behavior/neurological phenotype,immune system phenotype,hematopoietic system phenotype	MP:0002135,MP:0002989,MP:0000598,MP:0000601,MP:0000691,MP:0001711,MP:0020421,MP:0000689	abnormal kidney morphology,small kidney,abnormal liver morphology,small liver,enlarged spleen,abnormal placenta morphology,increased freezing behavior,abnormal spleen morphology	-	-	-	-
HGNC:14202	JPH2	Cardiomyopathies - including childhood onset|Hypertrophic cardiomyopathy - teen and adult	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown|MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	monoallelic	Abnormality of the cardiovascular system|Abnormality of the respiratory system	MGI:1891496	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:1421	SLC25A20	Cardiomyopathies - including childhood onset	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormal cellular phenotype|Abnormality of head or neck|Abnormality of metabolism/homeostasis|Abnormality of prenatal development or birth|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system	MGI:1928738	lethal	MP:0010768	mortality/aging	MP:0011100	preweaning lethality, complete penetrance	-	-	-	-	-	-	-	-
HGNC:143	ACTC1	Cardiomyopathies - including childhood onset|Dilated cardiomyopathy - adult and teen|Dilated Cardiomyopathy and conduction defects|Hypertrophic cardiomyopathy - teen and adult|Left Ventricular Noncompaction Cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted|MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	monoallelic	Abnormality of blood and blood-forming tissues|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the ear|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Constitutional symptom	MGI:87905	lethal	MP:0010768	mortality/aging	MP:0011100	preweaning lethality, complete penetrance	-	-	-	-	-	-	-	-
HGNC:14357	MMP21	Familial non syndromic congenital heart disease	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the immune system|Abnormality of the integument|Abnormality of the respiratory system|Growth abnormality	MGI:2664387	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:1442	CALM1	Cardiac arrhythmias|Catecholaminergic polymorphic VT|Long QT syndrome	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	monoallelic	Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the ear|Abnormality of the nervous system|Constitutional symptom	MGI:88251	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:1445	CALM2	Cardiac arrhythmias|Catecholaminergic polymorphic VT|Long QT syndrome	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	monoallelic	Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the ear|Abnormality of the nervous system|Constitutional symptom	MGI:103250	subviable	MP:0010768	mortality/aging	MP:0011110	preweaning lethality, incomplete penetrance	-	-	-	-	-	-	-	-
HGNC:1449	CALM3	Cardiac arrhythmias|Catecholaminergic polymorphic VT|Long QT syndrome	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	monoallelic	Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the ear|Abnormality of the nervous system|Constitutional symptom	MGI:103249	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:1513	CASQ2	Cardiac arrhythmias|Catecholaminergic polymorphic VT	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormality of the cardiovascular system|Abnormality of the ear|Abnormality of the nervous system|Constitutional symptom	MGI:1309469	lethal	MP:0005376,MP:0010768	homeostasis/metabolism phenotype,mortality/aging	MP:0001785,MP:0011100	edema,preweaning lethality, complete penetrance	MP:0005385,NA	cardiovascular system phenotype,NA	MP:0004122,MP:0003929,MP:0005385	abnormal sinus arrhythmia,decreased heart rate variability,cardiovascular system phenotype	-	-	-	-
HGNC:15454	SHOC2	Cardiomyopathies - including childhood onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	monoallelic	Abnormality of blood and blood-forming tissues|Abnormality of head or neck|Abnormality of limbs|Abnormality of prenatal development or birth|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the voice|Growth abnormality|Neoplasm	MGI:1927197	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:15598	HAMP	Dilated Cardiomyopathy and conduction defects	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormality of blood and blood-forming tissues|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the endocrine system|Abnormality of the genitourinary system|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system	MGI:1933533	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:16007	TRIM63	Hypertrophic cardiomyopathy - teen and adult	BIALLELIC, autosomal or pseudoautosomal	biallelic	-	MGI:2447992	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:164	ACTN2	Cardiomyopathies - including childhood onset|Dilated cardiomyopathy - adult and teen|Dilated Cardiomyopathy and conduction defects|Hypertrophic cardiomyopathy - teen and adult	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	monoallelic	Abnormal cellular phenotype|Abnormality of blood and blood-forming tissues|Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the eye|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system	MGI:109192	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:16650	MRPL44	Cardiomyopathies - including childhood onset	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the digestive system	MGI:1916413	lethal	MP:0010768	mortality/aging	MP:0013292,MP:0011100	embryonic lethality prior to organogenesis,preweaning lethality, complete penetrance	-	-	-	-	-	-	-	-
HGNC:16901	SPEG	Cardiomyopathies - including childhood onset|Dilated Cardiomyopathy and conduction defects	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormality of head or neck|Abnormality of limbs|Abnormality of the cardiovascular system|Abnormality of the ear|Abnormality of the eye|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Abnormality of the voice	MGI:109282	-	-	-	-	-	MP:0005387,MP:0005397	immune system phenotype,hematopoietic system phenotype	MP:0002606	increased basophil cell number	-	-	-	-
HGNC:17075	TAB2	Familial non syndromic congenital heart disease	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	monoallelic	Abnormality of head or neck|Abnormality of the cardiovascular system|Abnormality of the ear|Abnormality of the eye|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Constitutional symptom|Growth abnormality	MGI:1915902	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:17111	ADAMTS19	Familial non syndromic congenital heart disease	BIALLELIC, autosomal or pseudoautosomal	biallelic	-	MGI:2442875	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:174	ACVR2B	Familial non syndromic congenital heart disease	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	monoallelic	Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the immune system	MGI:87912	subviable	MP:0010768	mortality/aging	MP:0011110	preweaning lethality, incomplete penetrance	MP:0005367,MP:0005378	renal/urinary system phenotype,growth/size/body region phenotype	MP:0008528,MP:0002135,MP:0003068	polycystic kidney,abnormal kidney morphology,enlarged kidney	-	-	-	-
HGNC:17574	ALPK3	Cardiomyopathies - including childhood onset	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormality of metabolism/homeostasis|Abnormality of prenatal development or birth|Abnormality of the cardiovascular system	MGI:2151224	subviable	MP:0005369,MP:0005378,MP:0005385,MP:0010768	muscle phenotype,growth/size/body region phenotype,cardiovascular system phenotype,mortality/aging	MP:0005140,MP:0000274,MP:0002833,MP:0010579,MP:0002753,MP:0002953,MP:0011110	decreased cardiac muscle contractility,enlarged heart,increased heart weight,increased heart left ventricle size,dilated heart left ventricle,thick ventricular wall,preweaning lethality, incomplete penetrance	-	-	-	-	-	-	-	-
HGNC:1759	CDH2	Cardiomyopathies - including childhood onset|Dilated cardiomyopathy - adult and teen	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	monoallelic	Abnormality of head or neck|Abnormality of the breast|Abnormality of the cardiovascular system|Abnormality of the ear|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Constitutional symptom	MGI:88355	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:17722	SPRED2	Familial non syndromic congenital heart disease	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormality of blood and blood-forming tissues|Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of prenatal development or birth|Abnormality of the breast|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the endocrine system|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Growth abnormality	MGI:2150019	viable	MP:0003631,MP:0005367,MP:0005370,MP:0005376,MP:0005378,MP:0005381,MP:0005385,MP:0005387,MP:0005391,MP:0005397,MP:0010771	nervous system phenotype,renal/urinary system phenotype,liver/biliary system phenotype,homeostasis/metabolism phenotype,growth/size/body region phenotype,digestive/alimentary phenotype,cardiovascular system phenotype,immune system phenotype,vision/eye phenotype,hematopoietic system phenotype,integument phenotype	MP:0005238,MP:0002135,MP:0003068,MP:0000598,MP:0005344,MP:0000274,MP:0004952,MP:0000691,MP:0003883,MP:0000266,MP:0000702,MP:0000689,MP:0001307,MP:0001304,MP:0002591,MP:0010067,MP:0002060	increased brain size,abnormal kidney morphology,enlarged kidney,abnormal liver morphology,increased circulating bilirubin level,enlarged heart,increased spleen weight,enlarged spleen,enlarged stomach,abnormal heart morphology,enlarged lymph nodes,abnormal spleen morphology,fused cornea and lens,cataract,decreased mean corpuscular volume,increased red blood cell distribution width,abnormal skin morphology	-	-	-	-	-	-	-	-
HGNC:18025	COA6	Cardiomyopathies - including childhood onset	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormal cellular phenotype|Abnormality of head or neck|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the musculoskeletal system|Abnormality of the respiratory system	MGI:1915142	lethal	MP:0010768	mortality/aging	MP:0011100,MP:0013292	preweaning lethality, complete penetrance,embryonic lethality prior to organogenesis	MP:0005367,MP:0005378,MP:0005379,MP:0005389,MP:0005390	renal/urinary system phenotype,growth/size/body region phenotype,endocrine/exocrine gland phenotype,reproductive system phenotype,skeleton phenotype	MP:0003917,MP:0002135,MP:0002059,MP:0004599	increased kidney weight,abnormal kidney morphology,abnormal seminal vesicle morphology,abnormal vertebral arch morphology	-	-	-	-
HGNC:18292	CFC1	Familial non syndromic congenital heart disease	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	monoallelic	Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the immune system|Growth abnormality	-	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:18828	NDUFAF1	Cardiomyopathies - including childhood onset	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormal cellular phenotype|Abnormality of head or neck|Abnormality of metabolism/homeostasis|Abnormality of prenatal development or birth|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the endocrine system|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Growth abnormality	MGI:1916952	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:18838	PPP1R13L	Cardiomyopathies - including childhood onset|Dilated Cardiomyopathy and conduction defects	BIALLELIC, autosomal or pseudoautosomal	biallelic	-	MGI:3525053	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:19661	TNNI3K	Cardiomyopathies - including childhood onset|Dilated cardiomyopathy - adult and teen	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	monoallelic	Abnormality of the cardiovascular system	MGI:2443276	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:20371	NDUFA11	Cardiomyopathies - including childhood onset	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormal cellular phenotype|Abnormality of head or neck|Abnormality of metabolism/homeostasis|Abnormality of prenatal development or birth|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the endocrine system|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Growth abnormality	MGI:1917125	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:20372	NDUFB11	Cardiomyopathies - including childhood onset	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	X-linked	Abnormal cellular phenotype|Abnormality of head or neck|Abnormality of metabolism/homeostasis|Abnormality of prenatal development or birth|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the endocrine system|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Growth abnormality	MGI:1349919	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:20456	TRAF7	Familial non syndromic congenital heart disease	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	monoallelic	Abnormal cellular phenotype|Abnormality of blood and blood-forming tissues|Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of prenatal development or birth|Abnormality of the breast|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the endocrine system|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Abnormality of the thoracic cavity|Constitutional symptom|Growth abnormality|Neoplasm	MGI:3042141	lethal	MP:0010768	mortality/aging	MP:0011100,MP:0013293,MP:0013294	preweaning lethality, complete penetrance,embryonic lethality prior to tooth bud stage,prenatal lethality prior to heart atrial septation	MP:0005376,MP:0005387,MP:0005391	homeostasis/metabolism phenotype,immune system phenotype,vision/eye phenotype	MP:0005344,MP:0000702,MP:0001304,MP:0001303	increased circulating bilirubin level,enlarged lymph nodes,cataract,abnormal lens morphology	-	-	-	-
HGNC:21022	AARS2	Cardiomyopathies - including childhood onset	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Growth abnormality	MGI:2681839	lethal	MP:0010768	mortality/aging	MP:0011100	preweaning lethality, complete penetrance	MP:0005385,MP:0005386,MP:0005387,MP:0005397	cardiovascular system phenotype,behavior/neurological phenotype,immune system phenotype,hematopoietic system phenotype	MP:0003921,MP:0001529,MP:0000219,MP:0005011,MP:0002606,MP:0010068	abnormal heart left ventricle morphology,abnormal vocalization,increased neutrophil cell number,increased eosinophil cell number,increased basophil cell number,decreased red blood cell distribution width	-	-	-	-
HGNC:21497	ACAD9	Cardiomyopathies - including childhood onset	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormal cellular phenotype|Abnormality of blood and blood-forming tissues|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the genitourinary system|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Constitutional symptom|Growth abnormality	MGI:1914272	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:21869	AGK	Cardiomyopathies - including childhood onset	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormality of blood and blood-forming tissues|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Constitutional symptom|Growth abnormality	MGI:1917173	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:2260	COX10	Cardiomyopathies - including childhood onset	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormality of blood and blood-forming tissues|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the eye|Abnormality of the immune system|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Growth abnormality	MGI:1917633	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:2263	COX15	Cardiomyopathies - including childhood onset	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormal cellular phenotype|Abnormality of blood and blood-forming tissues|Abnormality of head or neck|Abnormality of metabolism/homeostasis|Abnormality of prenatal development or birth|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the eye|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Growth abnormality	MGI:1920112	lethal	MP:0010768	mortality/aging	MP:0013293,MP:0013292,MP:0011100	embryonic lethality prior to tooth bud stage,embryonic lethality prior to organogenesis,preweaning lethality, complete penetrance	MP:0005376,MP:0005385	homeostasis/metabolism phenotype,cardiovascular system phenotype	MP:0002941,MP:0005343,MP:0008725,MP:0000266	increased circulating alanine transaminase level,increased circulating aspartate transaminase level,enlarged heart atrium,abnormal heart morphology	-	-	-	-
HGNC:23246	MYPN	Cardiomyopathies - including childhood onset	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	both	Abnormality of blood and blood-forming tissues|Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of prenatal development or birth|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the eye|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Abnormality of the voice|Growth abnormality	MGI:1916052	viable	MP:0001186,MP:0005386,MP:0010771	pigmentation phenotype,behavior/neurological phenotype,integument phenotype	MP:0002075,MP:0001529	abnormal coat/hair pigmentation,abnormal vocalization	-	-	-	-	-	-	-	-
HGNC:2330	CPT2	Cardiomyopathies - including childhood onset	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	both	Abnormal cellular phenotype|Abnormality of blood and blood-forming tissues|Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of prenatal development or birth|Abnormality of the breast|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Constitutional symptom	MGI:109176	subviable	MP:0010768	mortality/aging	MP:0011110	preweaning lethality, incomplete penetrance	MP:0005376,MP:0005390	homeostasis/metabolism phenotype,skeleton phenotype	MP:0001566,MP:0000137	increased circulating phosphate level,abnormal vertebrae morphology	-	-	-	-
HGNC:23406	DOLK	Cardiomyopathies - including childhood onset|Dilated cardiomyopathy - adult and teen	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormal cellular phenotype|Abnormality of blood and blood-forming tissues|Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the ear|Abnormality of the eye|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Growth abnormality	MGI:2677836	lethal	MP:0010768	mortality/aging	MP:0013292,MP:0011100	embryonic lethality prior to organogenesis,preweaning lethality, complete penetrance	-	-	-	-	-	-	-	-
HGNC:2472	CSRP3	Cardiomyopathies - including childhood onset|Dilated Cardiomyopathy and conduction defects|Hypertrophic cardiomyopathy - teen and adult	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	monoallelic	Abnormality of blood and blood-forming tissues|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the ear|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Constitutional symptom	MGI:1330824	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:2488	NKX2-5	Cardiomyopathies - including childhood onset|Dilated cardiomyopathy - adult and teen|Familial non syndromic congenital heart disease	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown|MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	monoallelic	Abnormal cellular phenotype|Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of prenatal development or birth|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the endocrine system|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Constitutional symptom|Growth abnormality	MGI:97350	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:2515	CTNND1	Familial non syndromic congenital heart disease	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	monoallelic	Abnormality of head or neck|Abnormality of limbs|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the eye|Abnormality of the integument|Abnormality of the musculoskeletal system	MGI:105100	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:25686	PPCS	Cardiomyopathies - including childhood onset	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormality of blood and blood-forming tissues|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the ear|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the respiratory system	MGI:1915237	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:26050	TMEM70	Cardiomyopathies - including childhood onset	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormal cellular phenotype|Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of prenatal development or birth|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the immune system|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Growth abnormality	MGI:1915068	lethal	MP:0003631,MP:0005378,MP:0005380,MP:0005382,MP:0010768	nervous system phenotype,growth/size/body region phenotype,embryo phenotype,craniofacial phenotype,mortality/aging	MP:0002151,MP:0003984,MP:0001697,MP:0002884,MP:0001672,MP:0001691,MP:0001700,MP:0011100,MP:0013293	abnormal neural tube morphology,embryonic growth retardation,abnormal embryo size,abnormal pharyngeal arch morphology,abnormal embryo development,abnormal somite shape,abnormal embryo turning,preweaning lethality, complete penetrance,embryonic lethality prior to tooth bud stage	MP:0005378,MP:0005380,MP:0005386	growth/size/body region phenotype,embryo phenotype,behavior/neurological phenotype	MP:0003984,MP:0001697,MP:0001700,MP:0010052	embryonic growth retardation,abnormal embryo size,abnormal embryo turning,increased grip strength	-	-	-	-
HGNC:26178	FHOD3	Cardiomyopathies - including childhood onset|Hypertrophic cardiomyopathy - teen and adult	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	monoallelic	Abnormality of the cardiovascular system|Abnormality of the nervous system|Constitutional symptom	MGI:1925847	lethal	MP:0003631,MP:0005378,MP:0005380,MP:0005385,MP:0010768	nervous system phenotype,growth/size/body region phenotype,embryo phenotype,cardiovascular system phenotype,mortality/aging	MP:0003720,MP:0003232,MP:0002151,MP:0006108,MP:0003864,MP:0003984,MP:0000266,MP:0013294,MP:0011100	abnormal neural tube closure,abnormal forebrain development,abnormal neural tube morphology,abnormal hindbrain development,abnormal midbrain development,embryonic growth retardation,abnormal heart morphology,prenatal lethality prior to heart atrial septation,preweaning lethality, complete penetrance	MP:0003631,MP:0005380,MP:0005386	nervous system phenotype,embryo phenotype,behavior/neurological phenotype	MP:0003720,MP:0002151,MP:0001711,MP:0020421	abnormal neural tube closure,abnormal neural tube morphology,abnormal placenta morphology,increased freezing behavior	-	-	-	-
HGNC:26530	CFAP53	Familial non syndromic congenital heart disease	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormality of the cardiovascular system|Abnormality of the digestive system|Growth abnormality	MGI:1921703	subviable	MP:0010768	mortality/aging	MP:0011110	preweaning lethality, incomplete penetrance	MP:0005386	behavior/neurological phenotype	MP:0010052	increased grip strength	-	-	-	-
HGNC:27424	RBM20	Cardiomyopathies - including childhood onset|Dilated cardiomyopathy - adult and teen|Dilated Cardiomyopathy and conduction defects	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	monoallelic	Abnormality of blood and blood-forming tissues|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the ear|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Constitutional symptom	MGI:1920963	viable	MP:0005376,MP:0005385,MP:0005389,MP:0005391	homeostasis/metabolism phenotype,cardiovascular system phenotype,reproductive system phenotype,vision/eye phenotype	MP:0001552,MP:0010392,MP:0009084,MP:0001304	increased circulating triglyceride level,prolonged QRS complex duration,blind uterus,cataract	-	-	-	-	-	-	-	-
HGNC:2770	DES	Arrhythmogenic cardiomyopathy|Cardiomyopathies - including childhood onset|Dilated cardiomyopathy - adult and teen|Dilated Cardiomyopathy and conduction defects	BOTH monoallelic and biallelic, autosomal or pseudoautosomal|MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	both	Abnormality of blood and blood-forming tissues|Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Constitutional symptom	MGI:94885	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:28472	TMEM43	Arrhythmogenic cardiomyopathy|Cardiomyopathies - including childhood onset|Dilated cardiomyopathy - adult and teen	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	monoallelic	Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the eye|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Abnormality of the voice|Constitutional symptom|Growth abnormality	MGI:1921372	subviable	MP:0010768	mortality/aging	MP:0011110	preweaning lethality, incomplete penetrance	-	-	-	-	-	-	-	-
HGNC:28883	PPA2	Cardiomyopathies - including childhood onset|Sudden death in young people	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the musculoskeletal system|Abnormality of the nervous system	MGI:1922026	lethal	MP:0010768	mortality/aging	MP:0011100,MP:0013293	preweaning lethality, complete penetrance,embryonic lethality prior to tooth bud stage	-	-	-	-	-	-	-	-
HGNC:2928	DMD	Cardiomyopathies - including childhood onset|Dilated cardiomyopathy - adult and teen|Dilated Cardiomyopathy and conduction defects	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	X-linked	Abnormality of blood and blood-forming tissues|Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the genitourinary system|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Constitutional symptom|Growth abnormality	MGI:94909	viable	MP:0005376,MP:0005378,MP:0005386,MP:0005390,MP:0005397	homeostasis/metabolism phenotype,growth/size/body region phenotype,behavior/neurological phenotype,skeleton phenotype,hematopoietic system phenotype	MP:0008805,MP:0002941,MP:0002968,MP:0005568,MP:0005343,MP:0003960,MP:0010053,MP:0003795,MP:0010124,MP:0002591,MP:0005505,MP:0010067,MP:0005562	decreased circulating amylase level,increased circulating alanine transaminase level,increased circulating alkaline phosphatase level,increased circulating total protein level,increased circulating aspartate transaminase level,increased lean body mass,decreased grip strength,abnormal bone structure,decreased bone mineral content,decreased mean corpuscular volume,thrombocytosis,increased red blood cell distribution width,decreased mean corpuscular hemoglobin	-	-	-	-	MP:0005376,MP:0005378,MP:0005390,MP:0005397	homeostasis/metabolism phenotype,growth/size/body region phenotype,skeleton phenotype,hematopoietic system phenotype	MP:0005343,MP:0002941,MP:0003960,MP:0003795,MP:0002591	increased circulating aspartate transaminase level,increased circulating alanine transaminase level,increased lean body mass,abnormal bone structure,decreased mean corpuscular volume
HGNC:29331	EPG5	Cardiomyopathies - including childhood onset|Dilated Cardiomyopathy and conduction defects	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormal cellular phenotype|Abnormality of blood and blood-forming tissues|Abnormality of head or neck|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the endocrine system|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Growth abnormality	MGI:1918673	-	MP:0003631,MP:0005371,MP:0005376,MP:0005378,MP:0005386,MP:0005387,MP:0005390,MP:0005397	nervous system phenotype,limbs/digits/tail phenotype,homeostasis/metabolism phenotype,growth/size/body region phenotype,behavior/neurological phenotype,immune system phenotype,skeleton phenotype,hematopoietic system phenotype	MP:0009142,MP:0002764,MP:0002941,MP:0002968,MP:0005560,MP:0005419,MP:0005343,MP:0008806,MP:0008810,MP:0004952,MP:0001489,MP:0000745,MP:0001406,MP:0012362,MP:0005013,MP:0000219,MP:0000220,MP:0002606,MP:0005016,MP:0000218,MP:0010067	decreased prepulse inhibition,short tibia,increased circulating alanine transaminase level,increased circulating alkaline phosphatase level,decreased circulating glucose level,decreased circulating serum albumin level,increased circulating aspartate transaminase level,increased circulating amylase level,increased circulating iron level,increased spleen weight,decreased startle reflex,tremors,abnormal gait,increased large unstained cell number,increased lymphocyte cell number,increased neutrophil cell number,increased monocyte cell number,increased basophil cell number,decreased lymphocyte cell number,increased leukocyte cell number,increased red blood cell distribution width	-	-	-	-	-	-	-	-
HGNC:29557	NEXN	Cardiomyopathies - including childhood onset|Dilated cardiomyopathy - adult and teen|Dilated Cardiomyopathy and conduction defects	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	monoallelic	Abnormality of blood and blood-forming tissues|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the ear|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system	MGI:1916060	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:29826	MYLK3	Cardiomyopathies - including childhood onset	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	both	-	MGI:2443063	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:3036	DSC2	Arrhythmogenic cardiomyopathy|Cardiomyopathies - including childhood onset|Dilated cardiomyopathy - adult and teen	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	both	Abnormality of limbs|Abnormality of the cardiovascular system|Abnormality of the integument|Abnormality of the respiratory system|Constitutional symptom	MGI:103221	viable	MP:0005385,MP:0005391	cardiovascular system phenotype,vision/eye phenotype	MP:0005542,MP:0001312,MP:0005287,MP:0001314	corneal vascularization,abnormal cornea morphology,narrow eye opening,corneal opacity	-	-	-	-	-	-	-	-
HGNC:3049	DSG2	Arrhythmogenic cardiomyopathy|Cardiomyopathies - including childhood onset|Dilated cardiomyopathy - adult and teen	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	monoallelic	Abnormality of blood and blood-forming tissues|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the ear|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Constitutional symptom	MGI:1196466	subviable	MP:0005369,MP:0005385,MP:0010768,MP:0010771	muscle phenotype,cardiovascular system phenotype,mortality/aging,integument phenotype	MP:0005140,MP:0002753,MP:0011110,MP:0001510	decreased cardiac muscle contractility,dilated heart left ventricle,preweaning lethality, incomplete penetrance,abnormal coat appearance	-	-	-	-	-	-	-	-
HGNC:3052	DSP	Arrhythmogenic cardiomyopathy|Cardiomyopathies - including childhood onset|Dilated cardiomyopathy - adult and teen|Dilated Cardiomyopathy and conduction defects	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	both	Abnormal cellular phenotype|Abnormality of blood and blood-forming tissues|Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of prenatal development or birth|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the respiratory system|Constitutional symptom|Growth abnormality	MGI:109611	lethal	MP:0003631,MP:0005380,MP:0005382,MP:0010768	nervous system phenotype,embryo phenotype,craniofacial phenotype,mortality/aging	MP:0002151,MP:0002884,MP:0001700,MP:0013294,MP:0011100	abnormal neural tube morphology,abnormal pharyngeal arch morphology,abnormal embryo turning,prenatal lethality prior to heart atrial septation,preweaning lethality, complete penetrance	MP:0003631,MP:0005380,MP:0005387	nervous system phenotype,embryo phenotype,immune system phenotype	MP:0002151,MP:0003720,MP:0001700,MP:0001711,MP:0000702,MP:0002339	abnormal neural tube morphology,abnormal neural tube closure,abnormal embryo turning,abnormal placenta morphology,enlarged lymph nodes,abnormal lymph node morphology	-	-	-	-
HGNC:30528	DNAJC19	Cardiomyopathies - including childhood onset	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormality of blood and blood-forming tissues|Abnormality of head or neck|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the endocrine system|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Constitutional symptom|Growth abnormality	MGI:1914963	-	MP:0005376,MP:0005378,MP:0005386,MP:0005397	homeostasis/metabolism phenotype,growth/size/body region phenotype,behavior/neurological phenotype,hematopoietic system phenotype	MP:0005559,MP:0002968,MP:0003961,MP:0001512,MP:0005642	increased circulating glucose level,increased circulating alkaline phosphatase level,decreased lean body mass,trunk curl,decreased mean corpuscular hemoglobin concentration	-	-	-	-	-	-	-	-
HGNC:3327	ELN	Familial non syndromic congenital heart disease	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	monoallelic	Abnormality of blood and blood-forming tissues|Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of prenatal development or birth|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the endocrine system|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Abnormality of the voice|Constitutional symptom|Growth abnormality	MGI:95317	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:3331	EMD	Cardiomyopathies - including childhood onset|Dilated cardiomyopathy - adult and teen	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)|X-LINKED: hemizygous mutation in males, biallelic mutations in females	X-linked	Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the eye|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Abnormality of the voice|Constitutional symptom|Growth abnormality	MGI:108117	viable	MP:0005375,MP:0005376,MP:0005379,MP:0005386,MP:0005389	adipose tissue phenotype,homeostasis/metabolism phenotype,endocrine/exocrine gland phenotype,behavior/neurological phenotype,reproductive system phenotype	MP:0010025,MP:0001566,MP:0000186,MP:0002059,MP:0009455	decreased total body fat amount,increased circulating phosphate level,decreased circulating HDL cholesterol level,abnormal seminal vesicle morphology,enhanced cued conditioning behavior	-	-	-	-	-	-	-	-
HGNC:33848	COA5	Cardiomyopathies - including childhood onset	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormality of the cardiovascular system	MGI:1923428	lethal	MP:0010768	mortality/aging	MP:0013293,MP:0011100,MP:0013292	embryonic lethality prior to tooth bud stage,preweaning lethality, complete penetrance,embryonic lethality prior to organogenesis	MP:0005378,MP:0005379,MP:0005380,MP:0005389,MP:0010771	growth/size/body region phenotype,endocrine/exocrine gland phenotype,embryo phenotype,reproductive system phenotype,integument phenotype	MP:0001697,MP:0002768,MP:0001120,MP:0003717	abnormal embryo size,small adrenal glands,abnormal uterus morphology,pallor	-	-	-	-
HGNC:3522	EYA4	Dilated Cardiomyopathy and conduction defects	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	monoallelic	Abnormality of the cardiovascular system|Abnormality of the ear|Abnormality of the immune system|Constitutional symptom	MGI:1337104	lethal	MP:0005376,MP:0005378,MP:0005380,MP:0010768	homeostasis/metabolism phenotype,growth/size/body region phenotype,embryo phenotype,mortality/aging	MP:0001785,MP:0001697,MP:0011100	edema,abnormal embryo size,preweaning lethality, complete penetrance	MP:0005376,MP:0005379	homeostasis/metabolism phenotype,endocrine/exocrine gland phenotype	MP:0001785,MP:0002768	edema,small adrenal glands	-	-	-	-
HGNC:3622	FKTN	Cardiomyopathies - including childhood onset	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormality of blood and blood-forming tissues|Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Abnormality of the voice|Constitutional symptom|Growth abnormality	MGI:2179507	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:3702	FHL1	Cardiomyopathies - including childhood onset|Hypertrophic cardiomyopathy - teen and adult	X-LINKED: hemizygous mutation in males, biallelic mutations in females	X-linked	Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the ear|Abnormality of the eye|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Abnormality of the voice|Constitutional symptom|Growth abnormality	MGI:1298387	-	MP:0005376	homeostasis/metabolism phenotype	MP:0005179,MP:0002944,MP:0002968,MP:0005627,MP:0008805	decreased circulating cholesterol level,increased lactate dehydrogenase level,increased circulating alkaline phosphatase level,increased circulating potassium level,decreased circulating amylase level	-	-	-	-	-	-	-	-
HGNC:3754	FLNA	Familial non syndromic congenital heart disease	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	X-linked	Abnormal cellular phenotype|Abnormality of blood and blood-forming tissues|Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Abnormality of the voice|Growth abnormality|Neoplasm	MGI:95556	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:3756	FLNC	Arrhythmogenic cardiomyopathy|Cardiomyopathies - including childhood onset|Dilated cardiomyopathy - adult and teen|Hypertrophic cardiomyopathy - teen and adult	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown|MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	monoallelic	Abnormality of blood and blood-forming tissues|Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the immune system|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Constitutional symptom|Growth abnormality	MGI:95557	lethal	MP:0005380,MP:0005385,MP:0010768	embryo phenotype,cardiovascular system phenotype,mortality/aging	MP:0003229,MP:0001691,MP:0000269,MP:0000266,MP:0011100,MP:0013293	abnormal vitelline vasculature morphology,abnormal somite shape,abnormal heart looping,abnormal heart morphology,preweaning lethality, complete penetrance,embryonic lethality prior to tooth bud stage	MP:0005375,MP:0005378,MP:0005386	adipose tissue phenotype,growth/size/body region phenotype,behavior/neurological phenotype	MP:0010024,MP:0003961,MP:0001417,MP:0001399	increased total body fat amount,decreased lean body mass,decreased exploration in new environment,hyperactivity	-	-	-	-
HGNC:4065	GAA	Cardiomyopathies - including childhood onset	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormality of head or neck|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the genitourinary system|Abnormality of the immune system|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Growth abnormality	MGI:95609	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:4173	GATA4	Familial non syndromic congenital heart disease	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	monoallelic	Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the breast|Abnormality of the cardiovascular system|Abnormality of the ear|Abnormality of the endocrine system|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Constitutional symptom|Growth abnormality|Neoplasm	MGI:95664	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:4174	GATA6	Familial non syndromic congenital heart disease	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	monoallelic	Abnormality of blood and blood-forming tissues|Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of prenatal development or birth|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the endocrine system|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Constitutional symptom|Growth abnormality	MGI:107516	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:4214	GDF1	Familial non syndromic congenital heart disease	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	both	Abnormality of head or neck|Abnormality of limbs|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Growth abnormality	MGI:95683	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:428	ALMS1	Cardiomyopathies - including childhood onset	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the breast|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the endocrine system|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Constitutional symptom|Growth abnormality	MGI:1934606	viable	MP:0005376,MP:0005386	homeostasis/metabolism phenotype,behavior/neurological phenotype	MP:0008806,MP:0001392	increased circulating amylase level,abnormal locomotor behavior	-	-	-	-	-	-	-	-
HGNC:4296	GLA	Hypertrophic cardiomyopathy - teen and adult	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	X-linked	Abnormality of blood and blood-forming tissues|Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the endocrine system|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Constitutional symptom|Growth abnormality	MGI:1347344	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:4326	GLRA1	Sudden death in young people	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	both	Abnormality of limbs|Abnormality of the digestive system|Abnormality of the immune system|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system	MGI:95747	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:4696	GUSB	Cardiomyopathies - including childhood onset	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of prenatal development or birth|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Growth abnormality	MGI:95872	subviable	MP:0010768	mortality/aging	MP:0011110	preweaning lethality, incomplete penetrance	-	-	-	-	-	-	-	-
HGNC:4801	HADHA	Cardiomyopathies - including childhood onset	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormal cellular phenotype|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of prenatal development or birth|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the endocrine system|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Constitutional symptom|Growth abnormality	MGI:2135593	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:4803	HADHB	Cardiomyopathies - including childhood onset	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of prenatal development or birth|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the endocrine system|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Constitutional symptom|Growth abnormality	MGI:2136381	subviable	MP:0010768	mortality/aging	MP:0011110	preweaning lethality, incomplete penetrance	MP:0005378	growth/size/body region phenotype	MP:0003961	decreased lean body mass	-	-	-	-
HGNC:4886	HFE	Dilated Cardiomyopathy and conduction defects	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormal cellular phenotype|Abnormality of blood and blood-forming tissues|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the breast|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the endocrine system|Abnormality of the genitourinary system|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Constitutional symptom|Growth abnormality|Neoplasm	MGI:109191	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:4887	HFE2	Dilated Cardiomyopathy and conduction defects	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the endocrine system|Abnormality of the genitourinary system|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system	MGI:1916835	viable	MP:0003631,MP:0005397	nervous system phenotype,hematopoietic system phenotype	MP:0009141,MP:0005561,MP:0005564	increased prepulse inhibition,increased mean corpuscular hemoglobin,increased hemoglobin content	-	-	-	-	-	-	-	-
HGNC:493	ANK2	Cardiac arrhythmias|Cardiac arrhythmias - additional genes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	monoallelic	Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the nervous system|Constitutional symptom	MGI:88025	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:5173	HRAS	Cardiomyopathies - including childhood onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	monoallelic	Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of prenatal development or birth|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the endocrine system|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Abnormality of the voice|Constitutional symptom|Growth abnormality|Neoplasm	MGI:96224	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:5321	HYAL2	Familial non syndromic congenital heart disease	BIALLELIC, autosomal or pseudoautosomal	biallelic	-	MGI:1196334	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:5383	IDH2	Cardiomyopathies - including childhood onset|Dilated Cardiomyopathy and conduction defects	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	monoallelic	Abnormality of blood and blood-forming tissues|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the breast|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the endocrine system|Abnormality of the genitourinary system|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Constitutional symptom|Growth abnormality|Neoplasm	MGI:96414	viable	MP:0005397	hematopoietic system phenotype	MP:0002591,MP:0005564,MP:0005562	decreased mean corpuscular volume,increased hemoglobin content,decreased mean corpuscular hemoglobin	-	-	-	-	-	-	-	-
HGNC:5391	IDUA	Cardiomyopathies - including childhood onset	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Growth abnormality	MGI:96418	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:60	ABCC9	Cardiomyopathies - including childhood onset|Dilated Cardiomyopathy and conduction defects	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	monoallelic	Abnormality of blood and blood-forming tissues|Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the eye|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Growth abnormality	MGI:1352630	-	-	-	-	-	MP:0005387,MP:0005397	immune system phenotype,hematopoietic system phenotype	MP:0000220,MP:0005016	increased monocyte cell number,decreased lymphocyte cell number	-	-	-	-
HGNC:6188	JAG1	Familial non syndromic congenital heart disease	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	monoallelic	Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the endocrine system|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Abnormality of the voice|Constitutional symptom|Growth abnormality|Neoplasm	MGI:1095416	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:6207	JUP	Arrhythmogenic cardiomyopathy|Cardiomyopathies - including childhood onset|Dilated cardiomyopathy - adult and teen	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	both	Abnormality of head or neck|Abnormality of limbs|Abnormality of prenatal development or birth|Abnormality of the cardiovascular system|Abnormality of the ear|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the respiratory system|Constitutional symptom|Growth abnormality	MGI:96650	lethal	MP:0005376,MP:0005378,MP:0005380,MP:0010768	homeostasis/metabolism phenotype,growth/size/body region phenotype,embryo phenotype,mortality/aging	MP:0001785,MP:0001697,MP:0011100	edema,abnormal embryo size,preweaning lethality, complete penetrance	MP:0005376,MP:0005386,MP:0005397	homeostasis/metabolism phenotype,behavior/neurological phenotype,hematopoietic system phenotype	MP:0013278,MP:0003064,MP:0005564	decreased fasting circulating glucose level,decreased coping response,increased hemoglobin content	-	-	-	-
HGNC:6240	KCNE1	Cardiac arrhythmias|Long QT syndrome	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	both	Abnormality of blood and blood-forming tissues|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the ear|Abnormality of the nervous system|Constitutional symptom	MGI:96673	-	MP:0003631,MP:0005375,MP:0005376,MP:0005377,MP:0005378,MP:0005386,MP:0005387,MP:0005390,MP:0005397	nervous system phenotype,adipose tissue phenotype,homeostasis/metabolism phenotype,hearing/vestibular/ear phenotype,growth/size/body region phenotype,behavior/neurological phenotype,immune system phenotype,skeleton phenotype,hematopoietic system phenotype	MP:0009142,MP:0010025,MP:0002968,MP:0005565,MP:0002941,MP:0004738,MP:0003960,MP:0001399,MP:0020870,MP:0001512,MP:0001410,MP:0001364,MP:0004924,MP:0002066,MP:0001489,MP:0001523,MP:0000745,MP:0001486,MP:0001406,MP:0001454,MP:0002757,MP:0001392,MP:0001402,MP:0000219,MP:0005016,MP:0000220,MP:0010124,MP:0000063,MP:0002590	decreased prepulse inhibition,decreased total body fat amount,increased circulating alkaline phosphatase level,increased blood urea nitrogen level,increased circulating alanine transaminase level,abnormal auditory brainstem response,increased lean body mass,hyperactivity,decreased thigmotaxis,trunk curl,head bobbing,decreased anxiety-related response,abnormal behavior,abnormal motor capabilities/coordination/movement,decreased startle reflex,impaired righting response,tremors,abnormal startle reflex,abnormal gait,abnormal cued conditioning behavior,decreased vertical activity,abnormal locomotor behavior,hypoactivity,increased neutrophil cell number,decreased lymphocyte cell number,increased monocyte cell number,decreased bone mineral content,decreased bone mineral density,increased mean corpuscular volume	-	-	-	-	-	-	-	-
HGNC:6251	KCNH2	Cardiac arrhythmias|Long QT syndrome	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	monoallelic	Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the nervous system|Constitutional symptom	MGI:1341722	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:6263	KCNJ2	Cardiac arrhythmias|Long QT syndrome	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	monoallelic	Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the ear|Abnormality of the endocrine system|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Constitutional symptom|Growth abnormality	MGI:104744	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:6294	KCNQ1	Cardiac arrhythmias|Long QT syndrome	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal|MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	both	Abnormality of blood and blood-forming tissues|Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of prenatal development or birth|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the endocrine system|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Constitutional symptom|Growth abnormality|Neoplasm	MGI:108083	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:6407	KRAS	Cardiomyopathies - including childhood onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	monoallelic	Abnormal cellular phenotype|Abnormality of blood and blood-forming tissues|Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of prenatal development or birth|Abnormality of the breast|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the endocrine system|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Constitutional symptom|Growth abnormality|Neoplasm	MGI:96680	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:6501	LAMP2	Cardiomyopathies - including childhood onset|Dilated cardiomyopathy - adult and teen|Hypertrophic cardiomyopathy - teen and adult	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	X-linked	Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the eye|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system	MGI:96748	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:6636	LMNA	Arrhythmogenic cardiomyopathy|Cardiomyopathies - including childhood onset|Dilated cardiomyopathy - adult and teen|Dilated Cardiomyopathy and conduction defects	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted|BOTH monoallelic and biallelic, autosomal or pseudoautosomal|MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	both	Abnormal cellular phenotype|Abnormality of blood and blood-forming tissues|Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of prenatal development or birth|Abnormality of the breast|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the endocrine system|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Abnormality of the voice|Constitutional symptom|Growth abnormality|Neoplasm	MGI:96794	-	MP:0010768	mortality/aging	MP:0011100	preweaning lethality, complete penetrance	MP:0005371,MP:0005376,MP:0005390,MP:0005391	limbs/digits/tail phenotype,homeostasis/metabolism phenotype,skeleton phenotype,vision/eye phenotype	MP:0002764,MP:0005292,MP:0009825	short tibia,improved glucose tolerance,cornea ulcer	-	-	-	-
HGNC:6742	LZTR1	Cardiomyopathies - including childhood onset	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	both	Abnormality of blood and blood-forming tissues|Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of prenatal development or birth|Abnormality of the breast|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the endocrine system|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Growth abnormality|Neoplasm	MGI:1914113	lethal	MP:0010768	mortality/aging	MP:0011100	preweaning lethality, complete penetrance	MP:0005378,MP:0005382,MP:0005390,MP:0005397	growth/size/body region phenotype,craniofacial phenotype,skeleton phenotype,hematopoietic system phenotype	MP:0000443,MP:0000438,MP:0010067	abnormal snout morphology,abnormal cranium morphology,increased red blood cell distribution width	-	-	-	-
HGNC:6840	MAP2K1	Cardiomyopathies - including childhood onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	monoallelic	Abnormality of blood and blood-forming tissues|Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of prenatal development or birth|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the endocrine system|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Growth abnormality|Neoplasm	MGI:1346866	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:6842	MAP2K2	Cardiomyopathies - including childhood onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	monoallelic	Abnormality of blood and blood-forming tissues|Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of prenatal development or birth|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Growth abnormality|Neoplasm	MGI:1346867	-	MP:0005375,MP:0005378,MP:0005386,NA	adipose tissue phenotype,growth/size/body region phenotype,behavior/neurological phenotype,NA	MP:0010025,MP:0001262,MP:0001406,MPATH:133	decreased total body fat amount,decreased body weight,abnormal gait,hypoplasia	-	-	-	-	-	-	-	-
HGNC:7150	MLYCD	Cardiomyopathies - including childhood onset	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the genitourinary system|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Constitutional symptom|Growth abnormality	MGI:1928485	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:7227	MRAS	Cardiomyopathies - including childhood onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	monoallelic	Abnormality of blood and blood-forming tissues|Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of prenatal development or birth|Abnormality of the breast|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the endocrine system|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Growth abnormality	MGI:1100856	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:7526	MUT	Cardiomyopathies - including childhood onset	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormality of blood and blood-forming tissues|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the immune system|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Constitutional symptom|Growth abnormality	MGI:97239	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:7551	MYBPC3	Cardiomyopathies - including childhood onset|Dilated cardiomyopathy - adult and teen|Dilated Cardiomyopathy and conduction defects|Hypertrophic cardiomyopathy - teen and adult|Left Ventricular Noncompaction Cardiomyopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal|MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted|MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	both	Abnormality of blood and blood-forming tissues|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Constitutional symptom	MGI:102844	-	MP:0005376,MP:0005378,MP:0005385,MP:0005386	homeostasis/metabolism phenotype,growth/size/body region phenotype,cardiovascular system phenotype,behavior/neurological phenotype	MP:0008805,MP:0002833,MP:0000266,MP:0001413	decreased circulating amylase level,increased heart weight,abnormal heart morphology,abnormal response to new environment	-	-	-	-	-	-	-	-
HGNC:7576	MYH6	Cardiomyopathies - including childhood onset|Dilated Cardiomyopathy and conduction defects|Familial non syndromic congenital heart disease	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted|BOTH monoallelic and biallelic, autosomal or pseudoautosomal	both	Abnormality of blood and blood-forming tissues|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the ear|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Constitutional symptom	MGI:97255	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:7577	MYH7	Cardiomyopathies - including childhood onset|Dilated cardiomyopathy - adult and teen|Dilated Cardiomyopathy and conduction defects|Hypertrophic cardiomyopathy - teen and adult|Left Ventricular Noncompaction Cardiomyopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal|MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown|MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	both	Abnormal cellular phenotype|Abnormality of blood and blood-forming tissues|Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of prenatal development or birth|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the eye|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Abnormality of the voice|Constitutional symptom|Growth abnormality	MGI:2155600	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:7583	MYL2	Cardiomyopathies - including childhood onset|Hypertrophic cardiomyopathy - teen and adult	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	monoallelic	Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of prenatal development or birth|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the eye|Abnormality of the immune system|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Abnormality of the voice|Constitutional symptom|Growth abnormality	MGI:97272	lethal	MP:0010768	mortality/aging	MP:0011100	preweaning lethality, complete penetrance	MP:0005375,MP:0005376,MP:0005397	adipose tissue phenotype,homeostasis/metabolism phenotype,hematopoietic system phenotype	MP:0010024,MP:0002966,MP:0002591	increased total body fat amount,decreased circulating alkaline phosphatase level,decreased mean corpuscular volume	-	-	-	-
HGNC:7584	MYL3	Cardiomyopathies - including childhood onset|Hypertrophic cardiomyopathy - teen and adult	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	both	Abnormality of the cardiovascular system|Abnormality of the respiratory system|Constitutional symptom	MGI:97268	-	-	-	-	-	MP:0005375,MP:0005378	adipose tissue phenotype,growth/size/body region phenotype	MP:0010025,MP:0003960	decreased total body fat amount,increased lean body mass	-	-	-	-
HGNC:76	ABL1	Familial non syndromic congenital heart disease	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	monoallelic	Abnormality of blood and blood-forming tissues|Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Constitutional symptom|Growth abnormality|Neoplasm	MGI:87859	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:7685	NDUFA2	Cardiomyopathies - including childhood onset	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormal cellular phenotype|Abnormality of blood and blood-forming tissues|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the ear|Abnormality of the eye|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Growth abnormality	MGI:1343103	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:7708	NDUFS2	Cardiomyopathies - including childhood onset	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormal cellular phenotype|Abnormality of blood and blood-forming tissues|Abnormality of head or neck|Abnormality of metabolism/homeostasis|Abnormality of prenatal development or birth|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the endocrine system|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Growth abnormality	MGI:2385112	lethal	MP:0010768	mortality/aging	MP:0011100,MP:0013292,MP:0013293	preweaning lethality, complete penetrance,embryonic lethality prior to organogenesis,embryonic lethality prior to tooth bud stage	MP:0005378,MP:0005380	growth/size/body region phenotype,embryo phenotype	MP:0001697	abnormal embryo size	-	-	-	-
HGNC:7715	NDUFS8	Cardiomyopathies - including childhood onset	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormal cellular phenotype|Abnormality of blood and blood-forming tissues|Abnormality of head or neck|Abnormality of metabolism/homeostasis|Abnormality of prenatal development or birth|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the endocrine system|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Growth abnormality	MGI:2385079	lethal	MP:0010768	mortality/aging	MP:0013292,MP:0011100	embryonic lethality prior to organogenesis,preweaning lethality, complete penetrance	-	-	-	-	-	-	-	-
HGNC:7717	NDUFV2	Cardiomyopathies - including childhood onset	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormal cellular phenotype|Abnormality of blood and blood-forming tissues|Abnormality of head or neck|Abnormality of metabolism/homeostasis|Abnormality of prenatal development or birth|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the endocrine system|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Growth abnormality	MGI:1920150	lethal	MP:0010768	mortality/aging	MP:0011100	preweaning lethality, complete penetrance	-	-	-	-	-	-	-	-
HGNC:7865	NODAL	Familial non syndromic congenital heart disease	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	monoallelic	Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of prenatal development or birth|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the endocrine system|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the immune system|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Growth abnormality|Neoplasm	MGI:97359	lethal	MP:0010768	mortality/aging	MP:0011100,MP:0013293	preweaning lethality, complete penetrance,embryonic lethality prior to tooth bud stage	MP:0005376,MP:0005385,MP:0005386,MP:0005387,MP:0005391,MP:0005397	homeostasis/metabolism phenotype,cardiovascular system phenotype,behavior/neurological phenotype,immune system phenotype,vision/eye phenotype,hematopoietic system phenotype	MP:0001552,MP:0001556,MP:0005566,MP:0005178,MP:0005542,MP:0010052,MP:0001486,MP:0001402,MP:0012362	increased circulating triglyceride level,increased circulating HDL cholesterol level,decreased blood urea nitrogen level,increased circulating cholesterol level,corneal vascularization,increased grip strength,abnormal startle reflex,hypoactivity,increased large unstained cell number	-	-	-	-
HGNC:7871	NONO	Cardiomyopathies - including childhood onset	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	X-linked	Abnormality of head or neck|Abnormality of limbs|Abnormality of the breast|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the endocrine system|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Abnormality of the voice|Growth abnormality	MGI:1855692	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:7882	NOTCH2	Familial non syndromic congenital heart disease	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	monoallelic	Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the endocrine system|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Constitutional symptom|Growth abnormality	MGI:97364	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:7976	NR2F2	Familial non syndromic congenital heart disease	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	monoallelic	Abnormality of the cardiovascular system|Abnormality of the endocrine system|Abnormality of the genitourinary system|Abnormality of the musculoskeletal system	MGI:1352452	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:7988	NRAP	Cardiomyopathies - including childhood onset	BIALLELIC, autosomal or pseudoautosomal	biallelic	-	MGI:1098765	viable	MP:0005386	behavior/neurological phenotype	MP:0001363	increased anxiety-related response	-	-	-	-	-	-	-	-
HGNC:7989	NRAS	Cardiomyopathies - including childhood onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	monoallelic	Abnormal cellular phenotype|Abnormality of blood and blood-forming tissues|Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of prenatal development or birth|Abnormality of the breast|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the endocrine system|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Growth abnormality|Neoplasm	MGI:97376	lethal	MP:0010768	mortality/aging	MP:0011100	preweaning lethality, complete penetrance	MP:0005376,MP:0005386	homeostasis/metabolism phenotype,behavior/neurological phenotype	MP:0005559,MP:0010053	increased circulating glucose level,decreased grip strength	-	-	-	-
HGNC:8653	PCCA	Cardiomyopathies - including childhood onset	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormality of blood and blood-forming tissues|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the genitourinary system|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Growth abnormality	MGI:97499	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:8654	PCCB	Cardiomyopathies - including childhood onset	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormality of blood and blood-forming tissues|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the genitourinary system|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Growth abnormality	MGI:1914154	lethal	MP:0010768	mortality/aging	MP:0011100	preweaning lethality, complete penetrance	MP:0005367,MP:0005378	renal/urinary system phenotype,growth/size/body region phenotype	MP:0008528,MP:0002135	polycystic kidney,abnormal kidney morphology	-	-	-	-
HGNC:9024	PKP2	Arrhythmogenic cardiomyopathy|Cardiomyopathies - including childhood onset|Dilated cardiomyopathy - adult and teen	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	monoallelic	Abnormality of the cardiovascular system|Constitutional symptom	MGI:1914701	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:9067	PLD1	Cardiomyopathies - including childhood onset	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormality of metabolism/homeostasis|Abnormality of prenatal development or birth|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the genitourinary system|Abnormality of the musculoskeletal system	MGI:109585	viable	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:9080	PLN	Arrhythmogenic cardiomyopathy|Cardiomyopathies - including childhood onset|Dilated cardiomyopathy - adult and teen|Dilated Cardiomyopathy and conduction defects|Hypertrophic cardiomyopathy - teen and adult	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	monoallelic	Abnormality of blood and blood-forming tissues|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the ear|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Constitutional symptom	MGI:97622	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:9143	PHOX2B	Sudden death in young people	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	monoallelic	Abnormality of head or neck|Abnormality of metabolism/homeostasis|Abnormality of prenatal development or birth|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Growth abnormality|Neoplasm	MGI:1100882	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:92	ACADVL	Cardiomyopathies - including childhood onset	BIALLELIC, autosomal or pseudoautosomal	biallelic	Abnormal cellular phenotype|Abnormality of head or neck|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the genitourinary system|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Constitutional symptom|Growth abnormality	MGI:895149	-	MP:0005376	homeostasis/metabolism phenotype	MP:0013278	decreased fasting circulating glucose level	-	-	-	-	-	-	-	-
HGNC:9282	PPP1CB	Cardiomyopathies - including childhood onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	monoallelic	Abnormality of head or neck|Abnormality of limbs|Abnormality of prenatal development or birth|Abnormality of the breast|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Growth abnormality|Neoplasm	MGI:104871	lethal	MP:0010768	mortality/aging	MP:0011100	preweaning lethality, complete penetrance	MP:0005386	behavior/neurological phenotype	MP:0001417	decreased exploration in new environment	-	-	-	-
HGNC:9386	PRKAG2	Cardiomyopathies - including childhood onset|Hypertrophic cardiomyopathy - teen and adult	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	monoallelic	Abnormality of head or neck|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Constitutional symptom	MGI:1336153	viable	MP:0005386	behavior/neurological phenotype	MP:0001417,MP:0020870	decreased exploration in new environment,decreased thigmotaxis	-	-	-	-	-	-	-	-
HGNC:939	BAG3	Cardiomyopathies - including childhood onset|Dilated cardiomyopathy - adult and teen|Dilated Cardiomyopathy and conduction defects	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted|MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	monoallelic	Abnormality of blood and blood-forming tissues|Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of the cardiovascular system|Abnormality of the ear|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Abnormality of the voice	MGI:1352493	lethal	MP:0010768	mortality/aging	MP:0011100	preweaning lethality, complete penetrance	MP:0005376	homeostasis/metabolism phenotype	MP:0000194,MP:0002965,MP:0005566	increased circulating calcium level,increased circulating serum albumin level,decreased blood urea nitrogen level	-	-	-	-
HGNC:9644	PTPN11	Cardiomyopathies - including childhood onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	monoallelic	Abnormality of blood and blood-forming tissues|Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of prenatal development or birth|Abnormality of the breast|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the endocrine system|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Constitutional symptom|Growth abnormality|Neoplasm	MGI:99511	-	-	-	-	-	-	-	-	-	-	-	-	-
HGNC:9829	RAF1	Cardiomyopathies - including childhood onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	monoallelic	Abnormality of blood and blood-forming tissues|Abnormality of head or neck|Abnormality of limbs|Abnormality of metabolism/homeostasis|Abnormality of prenatal development or birth|Abnormality of the breast|Abnormality of the cardiovascular system|Abnormality of the digestive system|Abnormality of the ear|Abnormality of the endocrine system|Abnormality of the eye|Abnormality of the genitourinary system|Abnormality of the immune system|Abnormality of the integument|Abnormality of the musculoskeletal system|Abnormality of the nervous system|Abnormality of the respiratory system|Growth abnormality|Neoplasm	MGI:97847	lethal	MP:0010768	mortality/aging	MP:0011100	preweaning lethality, complete penetrance	MP:0005391	vision/eye phenotype	MP:0001303,MP:0001304	abnormal lens morphology,cataract	-	-	-	-