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 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 GeneticVariation disease UNIPROT [Gene (SCN5A) mutation analysis of a Chinese family with Brugada syndrome]. 18341814 2007
Entrez Id: 3764
Gene Symbol: KCNJ8
KCNJ8 		0.300 Biomarker disease CLINGEN Ventricular fibrillation with prominent early repolarization associated with a rare variant of KCNJ8/KATP channel. 19120683 2009
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 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 Biomarker disease CTD_human Unmasking of brugada syndrome by lithium. 16144991 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 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 CLINVAR Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies. 19251209 2009
Entrez Id: 3752
Gene Symbol: KCND3
KCND3 		0.300 Biomarker disease CLINGEN Two novel Brugada syndrome-associated mutations increase KV4.3 membrane expression and function. 26016905 2015
Entrez Id: 3752
Gene Symbol: KCND3
KCND3 		0.300 Biomarker disease CLINGEN Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome. 21349352 2011
Entrez Id: 55800
Gene Symbol: SCN3B
SCN3B 		0.300 Biomarker disease CLINGEN The sodium channel beta-subunit SCN3b modulates the kinetics of SCN5a and is expressed heterogeneously in sheep heart. 11744748 2001
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
Entrez Id: 781
Gene Symbol: CACNA2D1
CACNA2D1 		0.300 Biomarker disease CLINGEN Targeted disruption of the voltage-dependent calcium channel alpha2/delta-1-subunit. 19429829 2009
Entrez Id: 55800
Gene Symbol: SCN3B
SCN3B 		0.300 Biomarker disease CLINGEN Sudden infant death syndrome-associated mutations in the sodium channel beta subunits. 20226894 2010
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 GeneticVariation disease UNIPROT Subepicardial phase 0 block and discontinuous transmural conduction underlie right precordial ST-segment elevation by a SCN5A loss-of-function mutation. 18456723 2008
Entrez Id: 783
Gene Symbol: CACNB2
CACNB2 		0.300 Biomarker disease CLINGEN Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing. 22840528 2012
Entrez Id: 3752
Gene Symbol: KCND3
KCND3 		0.300 Biomarker disease CLINGEN Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing. 22840528 2012
Entrez Id: 3764
Gene Symbol: KCNJ8
KCNJ8 		0.300 Biomarker disease CLINGEN Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing. 22840528 2012
Entrez Id: 10021
Gene Symbol: HCN4
HCN4 		0.300 Biomarker disease CLINGEN Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing. 22840528 2012
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: 5318
Gene Symbol: PKP2
PKP2 		0.300 Biomarker disease CLINGEN Sodium current deficit and arrhythmogenesis in a murine model of plakophilin-2 haploinsufficiency. 22764151 2012
Entrez Id: 3752
Gene Symbol: KCND3
KCND3 		0.300 Biomarker disease CLINGEN Sodium current and potassium transient outward current genes in Brugada syndrome: screening and bioinformatics. 22284586 2012
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B 		0.500 Biomarker disease CLINGEN Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. 18464934 2008
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 Biomarker disease CTD_human Sodium channel blockers identify risk for sudden death in patients with ST-segment elevation and right bundle branch block but structurally normal hearts. 10662748 2000