Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 GeneticVariation CLINVAR Novel SCN5A mutation in amiodarone-responsive multifocal ventricular ectopy-associated cardiomyopathy. 24815523

2015

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 CausalMutation CLINVAR Escape capture bigeminy: phenotypic marker of cardiac sodium channel voltage sensor mutation R222Q. 22710484

2013

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 GeneticVariation CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266

2013

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 CausalMutation CLINVAR Criteria to predict carriers of a novel SCN5A mutation in a large Portuguese family affected by the Brugada syndrome. 22277643

2012

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 GeneticVariation CLINVAR Paralogous annotation of disease-causing variants in long QT syndrome genes. 22581653

2012

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 CausalMutation CLINVAR R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy. 22999724

2012

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 CausalMutation CLINVAR Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy. 22766342

2012

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 CausalMutation CLINVAR The goal of this study was to characterize a variant in the SCN5A gene that encodes the alpha-subunit of the cardiac sodium channel, Nav1.5, which was identified in 1 large kindred with dilated cardiomyopathy (DCM) and multiple arrhythmias, including premature ventricular complexes (PVCs). 22999724

2012

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 CausalMutation CLINVAR Dilated cardiomyopathy associates with mutations in the SCN5A gene, but the frequency, phenotype, and causative nature of these associations remain the focus of ongoing investigation. 21596231

2011

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 CausalMutation CLINVAR The aim of this study was to discern the role of the cardiac voltage-gated sodium ion channel SCN5A in the etiology of dilated cardiomyopathy (DCM). 21596231

2011

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 CausalMutation CLINVAR SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism. 21596231

2011

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 CausalMutation CLINVAR SCN5A rare variants in familial dilated cardiomyopathy decrease peak sodium current depending on the common polymorphism H558R and common splice variant Q1077del. 21167004

2011

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 CausalMutation CLINVAR Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 19716085

2010

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 CausalMutation CLINVAR Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. 19412328

2010

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 CausalMutation CLINVAR Rare variant mutations in pregnancy-associated or peripartum cardiomyopathy. 20458009

2010

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 GeneticVariation CLINVAR Mutations in SCN5A encoding the principal Na+ channel alpha-subunit expressed in human heart (Na(V)1.5) have recently been linked to an inherited form of dilated cardiomyopathy with atrial and ventricular arrhythmia. 18048769

2008

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 GeneticVariation CLINVAR Homozygous SCN5A mutation in Brugada syndrome with monomorphic ventricular tachycardia and structural heart abnormalities. 17442746

2007

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 GeneticVariation CLINVAR Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. 15671429

2005