DisGeNET - a database of gene-disease associations

Source: CLINVAR

Diseases associated to Variant: rs397517689 ×

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
C1858763	Cardiomyopathy, Dilated, 1g	disease	Cardiovascular Diseases	Disease or Syndrome	genetic disease; disease of anatomical entity		2	306
C1837342	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J	disease	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases	Disease or Syndrome	disease of anatomical entity		2	230
C0340427	Familial dilated cardiomyopathy	disease	Cardiovascular Diseases	Disease or Syndrome	genetic disease; disease of anatomical entity		10	32
C0007193	Cardiomyopathy, Dilated	group	Cardiovascular Diseases	Disease or Syndrome	genetic disease; disease of anatomical entity	Abnormality of the cardiovascular system	43	443
C0878544	Cardiomyopathies	group	Cardiovascular Diseases	Disease or Syndrome	disease of anatomical entity	Abnormality of the cardiovascular system	45	172