Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		1.000 Biomarker disease CTD_human
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		1.000 GeneticVariation disease UNIPROT One form of hereditary long QT (LQT3) has been linked to a mutation in the gene encoding the human heart voltage-gated sodium-channel alpha-subunit (SCN5A on chromosome 3p21). 7651517 1995
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		1.000 GeneticVariation disease UNIPROT SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. 7889574 1995
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		1.000 GeneticVariation disease UNIPROT Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia. 8541846 1995
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		1.000 Biomarker disease GENOMICS_ENGLAND SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. 7889574 1995
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		1.000 CausalMutation disease CLINVAR Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia. 8541846 1995
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease BEFREE A heritable form of the long-QT syndrome (LQT3) has been linked to mutations in the cardiac sodium channel gene (SCN5A). 9495298 1998
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		1.000 GeneticVariation disease UNIPROT Novel LQT-3 mutation affects Na+ channel activity through interactions between alpha- and beta1-subunits. 9686753 1998
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		1.000 GeneticVariation disease UNIPROT Identification of a new SCN5A mutation, D1840G, associated with the long QT syndrome. Mutations in brief no. 153. Online. 10627139 1998
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		1.000 GeneticVariation disease BEFREE 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 		1.000 CausalMutation disease 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 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease 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 		1.000 CausalMutation disease 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 		1.000 GeneticVariation disease UNIPROT A single Na(+) channel mutation causing both long-QT and Brugada syndromes. 10590249 2000
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		1.000 GeneticVariation disease UNIPROT A molecular link between the sudden infant death syndrome and the long-QT syndrome. 10911008 2000
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		1.000 GeneticVariation disease BEFREE Mutations in SCN5A, encoding the cardiac sodium (Na) channel, are linked to a form of the congenital long-QT syndrome (LQT3) that provokes lethal ventricular arrhythmias. 10772658 2000
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		1.000 GeneticVariation disease BEFREE Flecainide block of Na(+) current (I(Na)) was investigated in wild-type (WT) or the long QT syndrome 3 (LQT3) sodium channel alpha subunit mutation with three amino acids deleted (DeltaKPQ) stably transfected into human embryonic kidney 293 cells using whole-cell, patch-clamp recordings. 10617684 2000
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		1.000 GeneticVariation disease UNIPROT Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849 2000
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		1.000 GeneticVariation disease BEFREE In contrast to other LQT-3-linked SCN5A mutations, D1790G does not promote sustained Na(+) channel activity but instead alters the kinetics and voltage-dependence of the inactivated state. 10920073 2000
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		1.000 GeneticVariation disease BEFREE Paradoxically, an inherited C-terminal SCN5A mutation causes affected individuals to manifest electrocardiographic features of both syndromes: QT-interval prolongation (LQT3) at slow heart rates and distinctive ST-segment elevations (Brugada syndrome) with exercise. 10807877 2000
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		1.000 CausalMutation disease CLINVAR Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849 2000
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		1.000 CausalMutation disease 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 		1.000 GeneticVariation disease UNIPROT Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome. 11710892 2001