Source: INFERRED

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 The aim of the present study was to screen for mutations in the SCN5A gene in a family with BS, and to characterize the consequences of the mutation on channel function. 16239976

2005
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 CausalMutation CLINVAR Intrinsic mechanism of the enhanced rate-dependent QT shortening in the R1623Q mutant of the LQT3 syndrome. 15621041

2005
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 Unconventional intronic splice site mutation in SCN5A associates with cardiac sodium channelopathy. 15863661

2005
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		1.000 GeneticVariation CLINVAR Reduced voltage dependence of inactivation in the SCN5A sodium channel mutation delF1617. 15665061

2005
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		1.000 GeneticVariation CLINVAR In summary, this is the first report of a dysfunctional sodium channel created by an intronic mutation giving rise to cryptic splice site activation in SCN5A in a family with the BS. 15808832

2005
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		1.000 GeneticVariation CLINVAR Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. 15671429

2005
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		1.000 GeneticVariation CLINVAR [Novel SCN5A gene mutations associated with Brugada syndrome: V95I, A1649V and delF1617]. 17081365

2006
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		1.000 CausalMutation CLINVAR Genotype-specific onset of arrhythmias in congenital long-QT syndrome: possible therapy implications. 17088455

2006
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		1.000 CausalMutation CLINVAR Progressive cardiac conduction defect is the prevailing phenotype in carriers of a Brugada syndrome SCN5A mutation. 16643399

2006
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		1.000 CausalMutation CLINVAR Long-QT syndrome-related sodium channel mutations probed by the dynamic action potential clamp technique. 16254012

2006
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 GeneticVariation CLINVAR Here, we report the functional consequences of a novel missense SCN5A mutation, G1319V, identified in a BrS patient. 17854786

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 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 Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. 17561957

2007
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		1.000 CausalMutation CLINVAR A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder and ventricular tachycardia. 17897635

2007
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		1.000 CausalMutation CLINVAR Gating properties of SCN5A mutations and the response to mexiletine in long-QT syndrome type 3 patients. 17698727

2007
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		1.000 CausalMutation CLINVAR Long QT and Brugada syndrome gene mutations in New Zealand. 17905336

2007
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		1.000 CausalMutation CLINVAR A novel SCN5A deletion mutation in a child with ventricular tachycardia, recurrent aborted sudden death, and Brugada electrocardiographic pattern. 18361072

2008
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		1.000 CausalMutation CLINVAR 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
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		1.000 CausalMutation CLINVAR Prevalence of early-onset atrial fibrillation in congenital long QT syndrome. 18452873

2008
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		1.000 CausalMutation CLINVAR Divergent biophysical defects caused by mutant sodium channels in dilated cardiomyopathy with arrhythmia. 18048769

2008
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