Source: CLINVAR

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 CausalMutation CLINVAR KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1. 27041150

2016
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		1.000 CausalMutation CLINVAR High prevalence of the SCN5A E1784K mutation in school children with long QT syndrome living on the Okinawa islands. 24871449

2014
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		1.000 CausalMutation CLINVAR The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience. 24784157

2014
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		1.000 CausalMutation CLINVAR High prevalence of genetic variants previously associated with LQT syndrome in new exome data. 22378279

2012
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		1.000 CausalMutation CLINVAR High prevalence of long QT syndrome-associated SCN5A variants in patients with early-onset lone atrial fibrillation. 22685113

2012
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		1.000 CausalMutation CLINVAR Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome. 21321465

2011
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		1.000 CausalMutation CLINVAR Multiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome. 20539757

2010
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		1.000 CausalMutation CLINVAR Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. 19841300

2009
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		1.000 CausalMutation CLINVAR 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 CausalMutation CLINVAR Cardiac sodium channel dysfunction in sudden infant death syndrome. 17210841

2007
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		1.000 CausalMutation CLINVAR "Letter by O'Rourke regarding articles, ""Prevalence of long-QT syndrome gene variants in sudden infant death syndrome,"" ""Cardiac sodium channel dysfunction in sudden infant death syndrome,"" and ""Contribution of long-QT syndrome genes to sudden infant death syndrome: is it time to consider newborn electrocardiographic screening?""." 17646591

2007
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		1.000 CausalMutation CLINVAR 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 CausalMutation CLINVAR High risk for bradyarrhythmic complications in patients with Brugada syndrome caused by SCN5A gene mutations. 16325048

2005
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		1.000 CausalMutation CLINVAR Novel Brugada SCN5A mutation causing sudden death in children. 15840483

2005
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		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: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		1.000 GeneticVariation CLINVAR Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). 14523039

2003
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		1.000 CausalMutation CLINVAR Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). 14523039

2003
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		1.000 CausalMutation CLINVAR 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 CausalMutation CLINVAR Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes. 10727653

2000
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		1.000 CausalMutation CLINVAR 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 CausalMutation CLINVAR 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 CausalMutation CLINVAR Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia. 8541846

1995