Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 Biomarker disease CTD_human Brugada syndrome trafficking-defective Nav1.5 channels can trap cardiac Kir2.1/2.2 channels. 30232268 2018
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 Biomarker disease GENOMICS_ENGLAND Reappraisal of Reported Genes for Sudden Arrhythmic Death. 29959160 2018
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 GeneticVariation disease BEFREE SCN5a mutations may express gain-of-function (Long QT Syndrome-3), loss-of-function (Brugada Syndrome 1) or both (mixed syndromes), depending on the mutation and environmental triggers. 28734073 2017
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 GeneticVariation disease UNIPROT SCN5A(K817E), a novel Brugada syndrome-associated mutation that alters the activation gating of NaV1.5 channel. 26776555 2016
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 GeneticVariation disease UNIPROT De Novo Mutation in the SCN5A Gene Associated with Brugada Syndrome. 26279430 2015
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 GeneticVariation disease CLINVAR Loss-of-Function SCN5A Mutations Associated With Sinus Node Dysfunction, Atrial Arrhythmias, and Poor Pacemaker Capture. 26111534 2015
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 Biomarker disease CTD_human Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death. 23872634 2013
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 GeneticVariation disease UNIPROT p.D1690N Nav1.5 rescues p.G1748D mutation gating defects in a compound heterozygous Brugada syndrome patient. 23085483 2013
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 GeneticVariation disease UNIPROT Electrophysiological characteristics of a SCN5A voltage sensors mutation R1629Q associated with Brugada syndrome. 24167619 2013
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 GeneticVariation disease UNIPROT MOG1 rescues defective trafficking of Na(v)1.5 mutations in Brugada syndrome and sick sinus syndrome. 23420830 2013
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 Biomarker disease GENOMICS_ENGLAND Concomitant Brugada-like and short QT electrocardiogram linked to SCN5A mutation. 22490985 2012
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 GeneticVariation disease CLINVAR Facilitatory and inhibitory effects of SCN5A mutations on atrial fibrillation in Brugada syndrome. 21273195 2011
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 Biomarker disease MGD Spatial and temporal heterogeneities are localized to the right ventricular outflow tract in a heterozygotic Scn5a mouse model. 21097662 2011
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 Biomarker disease CTD_human Variable Na(v)1.5 protein expression from the wild-type allele correlates with the penetrance of cardiac conduction disease in the Scn5a(+/-) mouse model. 20174578 2010
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 Biomarker disease CTD_human Brugada syndrome ECG provoked by the selective serotonin reuptake inhibitor fluvoxamine. 19875396 2010
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 GeneticVariation disease 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 		0.910 GeneticVariation disease UNIPROT 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 		0.910 Biomarker disease CTD_human Active cascade screening in primary inherited arrhythmia syndromes: does it lead to prophylactic treatment? 20513597 2010
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 GeneticVariation disease UNIPROT Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies. 19251209 2009
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 GeneticVariation disease UNIPROT Distinct functional defect of three novel Brugada syndrome related cardiac sodium channel mutations. 19272188 2009
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 Biomarker disease CTD_human Is flecainide dangerous in long QT-3 patients? 19140927 2009
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 GeneticVariation disease CLINVAR Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies. 19251209 2009
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 GeneticVariation disease UNIPROT Analyses of a novel SCN5A mutation (C1850S): conduction vs. repolarization disorder hypotheses in the Brugada syndrome. 18252757 2008
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 Biomarker disease CTD_human Concomitant-acquired Long QT and Brugada syndromes associated with indapamide-induced hypokalemia and hyponatremia. 18507554 2008
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 GeneticVariation disease UNIPROT The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome. 18451998 2008