Gene: SCN5A ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.700 GeneticVariation group CLINVAR Novel SCN5A mutation in amiodarone-responsive multifocal ventricular ectopy-associated cardiomyopathy. 24815523 2014
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.700 CausalMutation group CLINVAR Parental electrocardiographic screening identifies a high degree of inheritance for congenital and childhood nonimmune isolated atrioventricular block. 22899775 2012
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.700 CausalMutation group CLINVAR Escape capture bigeminy: phenotypic marker of cardiac sodium channel voltage sensor mutation R222Q. 22710484 2012
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.700 CausalMutation group CLINVAR R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy. 22999724 2012
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.700 CausalMutation group 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 		0.700 CausalMutation group CLINVAR Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy. 22766342 2012
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.700 CausalMutation group 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 		0.700 CausalMutation group CLINVAR An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. 20129283 2010
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.700 CausalMutation group CLINVAR Rare variant mutations in pregnancy-associated or peripartum cardiomyopathy. 20458009 2010
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.700 CausalMutation group CLINVAR SCN5A rare variants in familial dilated cardiomyopathy decrease peak sodium current depending on the common polymorphism H558R and common splice variant Q1077del. 21167004 2010
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.700 CausalMutation group CLINVAR Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 19716085 2009
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.700 GeneticVariation group CLINVAR Divergent biophysical defects caused by mutant sodium channels in dilated cardiomyopathy with arrhythmia. 18048769 2008
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.700 CausalMutation group CLINVAR Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. 19412328 2008
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.700 GeneticVariation group CLINVAR Homozygous SCN5A mutation in Brugada syndrome with monomorphic ventricular tachycardia and structural heart abnormalities. 17442746 2007
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.700 CausalMutation group CLINVAR Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. 15671429 2005
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.700 GeneticVariation group CLINVAR Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. 15671429 2005
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.700 CausalMutation group CLINVAR Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. 9521325 1998