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 Biomarker CTD_human Loss-of-function mutations in the SCN5A gene, which encodes Nav1.5 channels, underlie several inherited arrhythmogenic syndromes, including Brugada syndrome (BrS). 30232268

2018

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
1.000 Biomarker CTD_human Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death. 23872634

2013

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
1.000 Biomarker 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
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
1.000 Biomarker CTD_human Brugada syndrome ECG provoked by the selective serotonin reuptake inhibitor fluvoxamine. 19875396

2010

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
1.000 Biomarker CTD_human Loss-of-function mutations in SCN5A, the gene encoding Na(v)1.5 Na+ channel, are associated with inherited cardiac conduction defects and Brugada syndrome, which both exhibit variable phenotypic penetrance of conduction defects. 20174578

2010

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
1.000 Biomarker CTD_human Is flecainide dangerous in long QT-3 patients? 19140927

2009

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
1.000 Biomarker CTD_human We characterized a novel double mutation of SCN5A (V232I in DI-S4+L1308F in DIII-S4) identified in a rare case of lidocaine (1 mg/kg)-induced Brugada syndrome. 18599870

2008

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
1.000 Biomarker CTD_human While a reduction in INa due to SCN5A mutation is implicated as the underlying mechanism in Brugada syndrome, hyponatremia, which can give rise to a reduced INa, has never been reported in literature as a cause or precipitating factor in this syndrome. 18507554

2008

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
1.000 Biomarker CTD_human We thus associate changes in the slopes of restitution curves with arrhythmogenicity in models of LQT3 and BrS. 17805561

2008

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
1.000 Biomarker CTD_human Brugada syndrome in a patient treated with lithium. 17728436

2007

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
1.000 Biomarker CTD_human Our findings indicate that bupivacaine may induce the electrocardiographic and arrhythmic manifestations of the Brugada syndrome in silent carriers of SCN5A mutations. 16945804

2006

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
1.000 Biomarker CTD_human 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 Biomarker CTD_human Unmasking of brugada syndrome by lithium. 16144991

2005

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
1.000 Biomarker CTD_human In families with Brugada syndrome, the data suggest that ajmaline testing is valuable in the diagnosis of SCN5A carriers. 15520322

2004

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
1.000 Biomarker CTD_human Flecainide test in Brugada syndrome: a reproducible but risky tool. 12687841

2003

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
1.000 Biomarker CTD_human A mutation in the cardiac sodium channel gene (SCN5A) has been described in patients with the syndrome of right bundle branch block, ST-segment elevation in leads V1 to V3, and sudden death (Brugada syndrome). 10662748

2000