Harmonizome 3.0

noncompaction of left ventricular myocardium, familial isolated, autosomal dominant 2

Ventricular tachycardia, catecholaminergic polymorphic, 3

arrhythmogenic right ventricular dysplasia 4

arrhythmogenic right ventricular dysplasia 6

arrhythmogenic right ventricular dysplasia 3

myosin, light chain 3, alkali; ventricular, skeletal, slow

MYL3 encodes myosin light chain 3, an alkali light chain also referred to in the literature as both the ventricular isoform and the slow skeletal muscle isoform. Mutations in MYL3 have been identified as a cause of mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]

ventricular zone expressed PH domain-containing 1

Predicted to enable phosphatidylinositol-5-phosphate binding activity. Involved in negative regulation of SMAD protein signal transduction and negative regulation of transforming growth factor beta receptor signaling pathway. Predicted to be located in endomembrane system. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

aortic aneurysm, familial abdominal 1

Aneurysm, familial abdominal 3

Aortic aneurysm, familial abdominal 2

Aortic aneurysm, familial abdominal, 4

Epilepsy, familial temporal lobe, 6

cardiomyopathy, familial restrictive, 2

Atrial fibrillation, familial, 8

Hyperuricemic nephropathy, familial juvenile, 3

gliosis, familial progressive subcortical

Beukes familial hip dysplasia

Epilepsy, familial adult myoclonic, 4

Epilepsy, familial adult myoclonic, 3

Progressive familial heart block, type II

benign familial infantile convulsions

Progressive familial heart block, type I, locus 1

epilepsy, familial temporal lobe

Hyperaldosteronism, familial, type II

familial cortical myoclonic tremor with epilepsy 2

familial cortical myoclonic tremor with epilepsy 1

Glioma, familial, 1

Pseudohyperkalemia, familial, 2, due to red cell leak

Syncope, familial vasovagal

Convulsions, benign familial infantile, 4

Atrial fibrillation, familial 1

familial atrial fibrillation 2

X inactivation, familial skewed, 2

Benign familial infantile convulsions-2

Epilepsy, familial mesial temporal lobe

Stuttering, familial persistent, 3

Stuttering, familial persistent 2

Stuttering, familial persistent 1

Stuttering, familial persistent, 4

cancer, familial, with in vitro radioresistance

Migraine, familial typical, susceptibility to

Migraine, familial, with or without aura, susceptibility to

Trichoepithelioma, multiple familial, 2

Febrile convulsions, familial, 9

Atrial fibrillation, familial, 5

Hypertriglyceridemia, familial

interstitial pneumonitis, desquamative, familial

Cardiomyopathy, familial hypertrophic, 21

candidiasis, familial 1

antiphospholipid syndrome, familial

eosinophilia, familial

Febrile convulsions, familial, 10

Thrombocytosis, familial X-linked

myasthenia gravis, familial infantile, 1

vestibulopathy, familial

Aortic aneurysm, familial thoracic 2

Aortic aneurysm, familial thoracic 1

Natural killer cell deficiency, familial isolated