Gene: SCN5A ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 BEFREE Mutations of the SCN5A gene are associated with several arrhythmic syndromes including the Brugada syndrome, conduction disease, long QT syndrome type 3 (LQT3), atrial fibrillation, and dilated cardiomyopathy. 23963187 2014
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.700 GeneticVariation group BEFREE Mutations of the SCN5A gene are reported in 2-4% of patients with dilated cardiomyopathy (DCM). 29871609 2018
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.700 Biomarker group HPO
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.700 GeneticVariation group BEFREE In this study, we identified and characterized, both in vitro and clinically, an SCN5A mutation associated with familial progressive atrioventricular block of adult onset and dilated cardiomyopathy in a Chinese family. 19808398 2008
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 Biomarker group MGD Striking In vivo phenotype of a disease-associated human SCN5A mutation producing minimal changes in vitro. 21824921 2011
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.700 GeneticVariation group BEFREE R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy. 22999724 2012
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.700 GeneticVariation group BEFREE SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia. 15466643 2004
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.700 GeneticVariation group BEFREE A1180V of cardiac sodium channel gene (SCN5A): is it a risk factor for dilated cardiomyopathy or just a common variant in Han Chinese? 24227891 2013
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 GeneticVariation group BEFREE Long QT syndrome and dilated cardiomyopathy with SCN5A p.R1193Q polymorphism: cardioverter-defibrillator implantation at 27 months. 22519808 2012
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 GeneticVariation group BEFREE Activation and repolarization characteristics of the explanted heart of a patient with a loss-of-function mutation in SCN5A (G752R) and dilated cardiomyopathy were determined after induction of right-sided ST-segment elevation by ajmaline. 20022821 2010
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 BEFREE 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 GeneticVariation group BEFREE Mutations in the sodium channel SCN5A have been implicated in many cardiac disorders, including the long QT syndrome, Brugada syndrome, conduction system disease, and dilated cardiomyopathy with atrial arrhythmias. 18088563 2008
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 LHGDN Divergent biophysical defects caused by mutant sodium channels in dilated cardiomyopathy with arrhythmia. 18048769 2008
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.700 Biomarker group GENOMICS_ENGLAND SCN5A mutation in Chinese patients with arrhythmogenic right ventricular dysplasia. 24317018 2014
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 Rare variant mutations in pregnancy-associated or peripartum cardiomyopathy. 20458009 2010
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.700 CausalMutation group CLINVAR Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. 9521325 1998
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.700 GeneticVariation group BEFREE In 2003 a new form of dilated cardiomyopathy was identified associated with mutations in the SCN5A gene. 26916278 2016
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