Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		1.000 GeneticVariation UNIPROT A novel mutation L619F in the cardiac Na+ channel SCN5A associated with long-QT syndrome (LQT3): a role for the I-II linker in inactivation gating. 12673799

2003
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		1.000 GeneticVariation UNIPROT Sodium channel abnormalities are infrequent in patients with long QT syndrome: identification of two novel SCN5A mutations. 10508990

1999
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		1.000 GeneticVariation UNIPROT Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. 16922724

2006
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		1.000 GeneticVariation UNIPROT The purpose of this study was to describe the first family associating LQT-3 and AF due to a gain-of-function mutation in SCN5A and assess the usefulness of the sodium blocker flecainide in individuals with both phenotypes. 18929331

2008
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1879286
Disease: Hereditary bundle branch system defect
Hereditary bundle branch system defect 		0.980 GeneticVariation 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
CUI: C1879286
Disease: Hereditary bundle branch system defect
Hereditary bundle branch system defect 		0.980 GeneticVariation UNIPROT MOG1 rescues defective trafficking of Na(v)1.5 mutations in Brugada syndrome and sick sinus syndrome. 23420830

2013
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1879286
Disease: Hereditary bundle branch system defect
Hereditary bundle branch system defect 		0.980 GeneticVariation UNIPROT A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation. 12569159

2003
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1879286
Disease: Hereditary bundle branch system defect
Hereditary bundle branch system defect 		0.980 GeneticVariation UNIPROT Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system. 12574143

2003
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1879286
Disease: Hereditary bundle branch system defect
Hereditary bundle branch system defect 		0.980 GeneticVariation UNIPROT A sodium-channel mutation causes isolated cardiac conduction disease. 11234013

2001
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1879286
Disease: Hereditary bundle branch system defect
Hereditary bundle branch system defect 		0.980 GeneticVariation UNIPROT Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block. 11804990

2002
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.910 GeneticVariation 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
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.910 GeneticVariation UNIPROT De Novo Mutation in the SCN5A Gene Associated with Brugada Syndrome. 26279430

2015
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.910 GeneticVariation 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
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.910 GeneticVariation 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
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.910 GeneticVariation UNIPROT Distinct functional defect of three novel Brugada syndrome related cardiac sodium channel mutations. 19272188

2009
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.910 GeneticVariation 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
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.910 GeneticVariation 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
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.910 GeneticVariation 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
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.910 GeneticVariation UNIPROT Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. 10532948

1999
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.910 GeneticVariation 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
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.910 GeneticVariation UNIPROT A sodium channel pore mutation causing Brugada syndrome. 17198989

2007
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.910 GeneticVariation 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
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.910 GeneticVariation UNIPROT [Novel SCN5A gene mutations associated with Brugada syndrome: V95I, A1649V and delF1617]. 17081365

2006
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.910 GeneticVariation 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
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.910 GeneticVariation UNIPROT Compound heterozygous mutations P336L and I1660V in the human cardiac sodium channel associated with the Brugada syndrome. 17075016

2006