DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: Familial dilated cardiomyopathy ×

Gene: SCN5A ×

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:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C0340427
Disease:	Familial dilated cardiomyopathy

Familial dilated cardiomyopathy

0.430

GermlineCausalMutation

ORPHANET

Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy.

22766342

2012

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C0340427
Disease:	Familial dilated cardiomyopathy

Familial dilated cardiomyopathy

0.430

GermlineCausalMutation

ORPHANET

SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia.

15466643

2004