DisGeNET - a database of gene-disease associations

Source: GENOMICS_ENGLAND

Disease: Cardiomyopathy, Dilated ×

Gene: ACTA1 ×

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:	58
Gene Symbol:	ACTA1

ACTA1

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.400

Biomarker

GENOMICS_ENGLAND

Nemaline myopathy with dilated cardiomyopathy in childhood.

23650303

2013

Entrez Id:	58
Gene Symbol:	ACTA1

ACTA1

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.400

Biomarker

GENOMICS_ENGLAND

Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation.

16945537

2006

Entrez Id:	58
Gene Symbol:	ACTA1

ACTA1

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.400

Biomarker

GENOMICS_ENGLAND

Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation.

16945537

2006