Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		1.000 CausalMutation CLINVAR Brugada syndrome 2012. 22789973

2012
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		1.000 GeneticVariation CLINVAR Brugada syndrome 2012. 22789973

2012
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		1.000 CausalMutation CLINVAR Brugada syndrome and fever: genetic and molecular characterization of patients carrying SCN5A mutations. 15890323

2005
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		1.000 GeneticVariation CLINVAR Brugada syndrome disease phenotype explained in apparently benign sodium channel mutations. 24573164

2014
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		1.000 CausalMutation CLINVAR Brugada-like syndrome in infancy presenting with rapid ventricular tachycardia and intraventricular conduction delay. 22090166

2012
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		1.000 CausalMutation CLINVAR Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths. 24631775

2014
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		1.000 GeneticVariation CLINVAR Cardiac conduction defects associate with mutations in SCN5A. 10471492

1999
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		1.000 CausalMutation CLINVAR Cardiac evaluation of pediatric relatives in sudden arrhythmic death syndrome: a 2-center experience. 25194972

2014
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		1.000 CausalMutation CLINVAR Cardiac histological substrate in patients with clinical phenotype of Brugada syndrome. 16344400

2005
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		1.000 GeneticVariation CLINVAR Cardiac Na(+) channel dysfunction in Brugada syndrome is aggravated by beta(1)-subunit. 10618304

2000
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		1.000 CausalMutation CLINVAR Cardiac Na(+) channel dysfunction in Brugada syndrome is aggravated by beta(1)-subunit. 10618304

2000
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		1.000 CausalMutation CLINVAR Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. 18378609

2008
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		1.000 CausalMutation CLINVAR Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia. 8541846

1995
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		1.000 CausalMutation CLINVAR Catecholamine-provoked microvoltage T wave alternans in genotyped long QT syndrome. 12877697

2003
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		1.000 CausalMutation CLINVAR Cellular hyper-excitability caused by mutations that alter the activation process of voltage-gated sodium channels. 25741286

2015
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		1.000 CausalMutation CLINVAR Characterization of human cardiac Na+ channel mutations in the congenital long QT syndrome. 8917568

1996
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		1.000 GeneticVariation CLINVAR Clinical application of exome sequencing in undiagnosed genetic conditions. 22581936

2012
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		1.000 CausalMutation CLINVAR Clinical aspects and prognosis of Brugada syndrome in children. 17404158

2007
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		1.000 GeneticVariation CLINVAR Clinical exome sequencing for genetic identification of rare Mendelian disorders. 25326637

2014
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		1.000 GeneticVariation CLINVAR Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block. 11804990

2002
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		1.000 GeneticVariation CLINVAR Coexistence of epilepsy and Brugada syndrome in a family with SCN5A mutation. 23538271

2013
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		1.000 GeneticVariation CLINVAR Comparison of long-term follow-up of electrocardiographic features in Brugada syndrome between the SCN5A-positive probands and the SCN5A-negative probands. 17697823

2007
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		1.000 CausalMutation CLINVAR Comparison of long-term follow-up of electrocardiographic features in Brugada syndrome between the SCN5A-positive probands and the SCN5A-negative probands. 17697823

2007
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		1.000 CausalMutation CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476

2005
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		1.000 CausalMutation CLINVAR Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort. 26173111

2015