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 CausalMutation disease CLINVAR
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 GeneticVariation disease CLINVAR A calcium sensor in the sodium channel modulates cardiac excitability. 11807557 2002
Entrez Id: 6336
Gene Symbol: SCN10A
SCN10A 		0.500 Biomarker disease CLINGEN A common genetic variant within SCN10A modulates cardiac SCN5A expression. 24642470 2014
Entrez Id: 6327
Gene Symbol: SCN2B
SCN2B 		0.300 Biomarker disease CLINGEN A missense mutation in the sodium channel β2 subunit reveals SCN2B as a new candidate gene for Brugada syndrome. 23559163 2013
Entrez Id: 55800
Gene Symbol: SCN3B
SCN3B 		0.300 Biomarker disease CLINGEN A mutation in the beta 3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype. 20031595 2009
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: 6324
Gene Symbol: SCN1B
SCN1B 		0.500 Biomarker disease CLINGEN A novel rare variant in SCN1Bb linked to Brugada syndrome and SIDS by combined modulation of Na(v)1.5 and K(v)4.3 channel currents. 22155597 2012
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B 		0.500 Biomarker disease CTD_human A novel rare variant in SCN1Bb linked to Brugada syndrome and SIDS by combined modulation of Na(v)1.5 and K(v)4.3 channel currents. 22155597 2012
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 GeneticVariation disease UNIPROT A sodium channel pore mutation causing Brugada syndrome. 17198989 2007
Entrez Id: 6336
Gene Symbol: SCN10A
SCN10A 		0.500 Biomarker disease CLINGEN A tetrodotoxin-resistant voltage-gated sodium channel from human dorsal root ganglia, hPN3/SCN10A. 9839820 1998
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 GeneticVariation disease UNIPROT A trafficking defective, Brugada syndrome-causing SCN5A mutation rescued by drugs. 15023552 2004
Entrez Id: 783
Gene Symbol: CACNB2
CACNB2 		0.300 Biomarker disease CLINGEN Accelerated inactivation of the L-type calcium current due to a mutation in CACNB2b underlies Brugada syndrome. 19358333 2009
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 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 GeneticVariation disease UNIPROT Analyses of a novel SCN5A mutation (C1850S): conduction vs. repolarization disorder hypotheses in the Brugada syndrome. 18252757 2008
Entrez Id: 781
Gene Symbol: CACNA2D1
CACNA2D1 		0.300 Biomarker disease CLINGEN Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics. 24309898 2014
Entrez Id: 5318
Gene Symbol: PKP2
PKP2 		0.300 Biomarker disease CLINGEN Arrhythmogenic cardiomyopathy and provocable Brugada ECG in a patient caused by missense mutation in plakophilin-2. 24681023 2014
Entrez Id: 6336
Gene Symbol: SCN10A
SCN10A 		0.500 Biomarker disease CLINGEN Association of common and rare variants of SCN10A gene with sudden unexplained nocturnal death syndrome in Chinese Han population. 27272739 2017
Entrez Id: 6336
Gene Symbol: SCN10A
SCN10A 		0.500 Biomarker disease CLINGEN Blocking Scn10a channels in heart reduces late sodium current and is antiarrhythmic. 22723299 2012
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 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 Brugada syndrome trafficking-defective Nav1.5 channels can trap cardiac Kir2.1/2.2 channels. 30232268 2018
Entrez Id: 783
Gene Symbol: CACNB2
CACNB2 		0.300 Biomarker disease CLINGEN Brugada-like syndrome in infancy presenting with rapid ventricular tachycardia and intraventricular conduction delay. 22090166 2012