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 CLINVAR Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome. 10690282 1999
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 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 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 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 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 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 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 CLINVAR Cryptic 5' splice site activation in SCN5A associated with Brugada syndrome. 15808832 2005
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 GeneticVariation disease UNIPROT The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome. 18451998 2008
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 GeneticVariation disease UNIPROT Correlations between clinical and physiological consequences of the novel mutation R878C in a highly conserved pore residue in the cardiac Na+ channel. 18616619 2008
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 Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. 10532948 1999
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 GeneticVariation disease UNIPROT Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome. 10690282 1999
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 GeneticVariation disease UNIPROT A sodium channel pore mutation causing Brugada syndrome. 17198989 2007
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 [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 Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family. 11748104 2001
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 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 Genetic analysis of the cardiac sodium channel gene SCN5A in Koreans with Brugada syndrome. 15338453 2004
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 GeneticVariation disease UNIPROT Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome. 11823453 2002
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 GeneticVariation disease UNIPROT Cardiac Na(+) channel dysfunction in Brugada syndrome is aggravated by beta(1)-subunit. 10618304 2000
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 GeneticVariation disease UNIPROT Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients. 12106943 2002