DisGeNET - a database of gene-disease associations

Source: CLINVAR

Diseases associated to Variant: rs397517906 ×

Results per page

Gene

Disease

Variant

Source

Semantic type

Disease Class

Type

HPO Term

DO Class

CUI	Disease	Type	Disease Class	Semantic type	DO Class	HPO Term	Num. genes	Num. SNPs
C0007193	Cardiomyopathy, Dilated	group	Cardiovascular Diseases	Disease or Syndrome	genetic disease; disease of anatomical entity	Abnormality of the cardiovascular system	43	443
C0349788	Arrhythmogenic Right Ventricular Dysplasia	disease	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases	Disease or Syndrome; Congenital Abnormality	disease of anatomical entity		11	108
C0340427	Familial dilated cardiomyopathy	disease	Cardiovascular Diseases	Disease or Syndrome	genetic disease; disease of anatomical entity		10	32