DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: Familial dilated cardiomyopathy ×

Gene: ACTC1 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	70
Gene Symbol:	ACTC1

ACTC1

CUI:	C0340427
Disease:	Familial dilated cardiomyopathy

Familial dilated cardiomyopathy

0.310

GermlineCausalMutation

ORPHANET

Actin mutations in dilated cardiomyopathy, a heritable form of heart failure.

1998