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: C4551959
Disease: ATRIAL STANDSTILL 1
ATRIAL STANDSTILL 1 		0.300 GeneticVariation UNIPROT A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill. 12522116

2003
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		1.000 GeneticVariation UNIPROT A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation. 12454206

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 common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation. 12569159

2003
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		1.000 GeneticVariation UNIPROT A molecular link between the sudden infant death syndrome and the long-QT syndrome. 10911008

2000
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		1.000 GeneticVariation UNIPROT A novel and lethal de novo LQT-3 mutation in a newborn with distinct molecular pharmacology and therapeutic response. 18060054

2007
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		1.000 GeneticVariation UNIPROT A novel LQT-3 mutation disrupts an inactivation gate complex with distinct rate-dependent phenotypic consequences. 18708744

2008
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: 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: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		1.000 GeneticVariation UNIPROT A single Na(+) channel mutation causing both long-QT and Brugada syndromes. 10590249

2000
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: 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: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.910 GeneticVariation UNIPROT A trafficking defective, Brugada syndrome-causing SCN5A mutation rescued by drugs. 15023552

2004
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		1.000 GeneticVariation UNIPROT Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. 11997281

2002
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.910 GeneticVariation 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
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 Cardiac Na(+) channel dysfunction in Brugada syndrome is aggravated by beta(1)-subunit. 10618304

2000
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C3151464
Disease: ATRIAL FIBRILLATION, FAMILIAL, 10
ATRIAL FIBRILLATION, FAMILIAL, 10 		0.700 GeneticVariation UNIPROT Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. 18378609

2008
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C3151464
Disease: ATRIAL FIBRILLATION, FAMILIAL, 10
ATRIAL FIBRILLATION, FAMILIAL, 10 		0.700 GeneticVariation UNIPROT Cardiac sodium channel mutation in atrial fibrillation. 18088563

2008
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		1.000 GeneticVariation UNIPROT Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia. 8541846

1995
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: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		1.000 GeneticVariation UNIPROT 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: 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: 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
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		1.000 GeneticVariation UNIPROT Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel. 10377081

1999
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1837845
Disease: SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE
SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE 		0.710 GeneticVariation UNIPROT Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). 14523039

2003