Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.910 GeneticVariation disease UNIPROT Genetic analysis of the cardiac sodium channel gene SCN5A in Koreans with Brugada syndrome. 15338453 2004
Entrez Id: 55800
Gene Symbol: SCN3B
SCN3B
0.300 Biomarker disease CLINGEN Modulation of Na(v)1.5 by beta1-- and beta3-subunit co-expression in mammalian cells. 15455233 2005
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.910 Biomarker disease CTD_human Value of electrocardiographic parameters and ajmaline test in the diagnosis of Brugada syndrome caused by SCN5A mutations. 15520322 2004
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.910 GeneticVariation disease UNIPROT Nav1.5 E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Nav1.5 on the surface of cardiomyocytes. 15579534 2004
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.910 GeneticVariation disease CLINVAR Cryptic 5' splice site activation in SCN5A associated with Brugada syndrome. 15808832 2005
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.910 Biomarker disease MGD Mouse model of SCN5A-linked hereditary Lenègre's disease: age-related conduction slowing and myocardial fibrosis. 15809371 2005
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.910 GeneticVariation disease UNIPROT Double SCN5A mutation underlying asymptomatic Brugada syndrome. 15851320 2005
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.910 GeneticVariation disease CLINVAR Unconventional intronic splice site mutation in SCN5A associates with cardiac sodium channelopathy. 15863661 2005
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.910 Biomarker disease CTD_human Unmasking of brugada syndrome by lithium. 16144991 2005
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.910 Biomarker disease CTD_human A novel nonsense mutation in the SCN5A gene leads to Brugada syndrome and a silent gene mutation carrier state. 16239976 2005
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.910 GeneticVariation disease UNIPROT Novel Brugada syndrome-causing mutation in ion-conducting pore of cardiac Na+ channel does not affect ion selectivity properties. 16266370 2005
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.910 GeneticVariation disease UNIPROT High risk for bradyarrhythmic complications in patients with Brugada syndrome caused by SCN5A gene mutations. 16325048 2005
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.910 GeneticVariation disease UNIPROT A novel SCN5A mutation, F1344S, identified in a patient with Brugada syndrome and fever-induced ventricular fibrillation. 16616735 2006
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.910 Biomarker disease CTD_human Genetic and biophysical basis for bupivacaine-induced ST segment elevation and VT/VF. Anesthesia unmasked Brugada syndrome. 16945804 2006
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.910 GeneticVariation disease UNIPROT Compound heterozygous mutations P336L and I1660V in the human cardiac sodium channel associated with the Brugada syndrome. 17075016 2006
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.910 GeneticVariation disease UNIPROT [Novel SCN5A gene mutations associated with Brugada syndrome: V95I, A1649V and delF1617]. 17081365 2006
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.910 Biomarker disease MGD Overlap syndrome of cardiac sodium channel disease in mice carrying the equivalent mutation of human SCN5A-1795insD. 17145985 2006
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.910 GeneticVariation disease UNIPROT A sodium channel pore mutation causing Brugada syndrome. 17198989 2007
Entrez Id: 783
Gene Symbol: CACNB2
CACNB2
0.300 Biomarker disease CLINGEN Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death. 17224476 2007
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.910 Biomarker disease CTD_human Brugada syndrome in a patient treated with lithium. 17728436 2007
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.910 Biomarker disease CTD_human Criteria for arrhythmogenicity in genetically-modified Langendorff-perfused murine hearts modelling the congenital long QT syndrome type 3 and the Brugada syndrome. 17805561 2008
Entrez Id: 23171
Gene Symbol: GPD1L
GPD1L
0.300 Biomarker disease CLINGEN Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias. 17967977 2007
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 GeneticVariation disease UNIPROT [Gene (SCN5A) mutation analysis of a Chinese family with Brugada syndrome]. 18341814 2007
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