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 SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia. 26392562

2015
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		1.000 GeneticVariation UNIPROT Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 19716085

2009
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		1.000 GeneticVariation UNIPROT To investigate the basis for this overlap, we genotyped a cohort of 44 LQT3 families of multiple ethnicities from 7 referral centers and found a high prevalence of the E1784K mutation in SCN5A. 18451998

2008
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		1.000 GeneticVariation UNIPROT In utero onset of long QT syndrome with atrioventricular block and spontaneous or lidocaine-induced ventricular tachycardia: compound effects of hERG pore region mutation and SCN5A N-terminus variant. 18848812

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 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 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: 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 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 Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. 16414944

2005
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: 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: 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 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: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		1.000 GeneticVariation UNIPROT Na(+) channel mutation that causes both Brugada and long-QT syndrome phenotypes: a simulation study of mechanism. 11889015

2002
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		1.000 GeneticVariation UNIPROT Mutations in the gene (SCN5A) encoding the alpha-subunit of the cardiac Na+ channel cause congenital long QT syndrome (LQT-3). 12209021

2002
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		1.000 GeneticVariation UNIPROT Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome. 11710892

2001
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		1.000 GeneticVariation UNIPROT Novel arrhythmogenic mechanism revealed by a long-QT syndrome mutation in the cardiac Na(+) channel. 11304498

2001
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		1.000 GeneticVariation UNIPROT Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes. 11410597

2001
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: 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 Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849

2000
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: 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 Mutations in a human cardiac Na+ channel gene (SCN5A) are responsible for chromosome 3-linked congenital long QT syndrome (LQT3). 9506831

1998
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		1.000 GeneticVariation UNIPROT Novel LQT-3 mutation affects Na+ channel activity through interactions between alpha- and beta1-subunits. 9686753

1998