Source: ALL

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 GeneticVariation BEFREE Rapid and effective response of the R222Q SCN5A to quinidine treatment in a patient with Purkinje-related ventricular arrhythmia and familial dilated cardiomyopathy: a case report. 29871609

2018
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.430 Biomarker BEFREE SCN5A is a disease-causing gene associated with familial dilated cardiomyopathy (FDC). 29782370

2018
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 GeneticVariation BEFREE Our findings illustrate the divergent biophysical defects caused by 2 different SCN5A mutations associated with familial dilated cardiomyopathy. 18048769

2008
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
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.430 CausalMutation CLINVAR