Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.100 Biomarker disease BEFREE Our findings broaden the spectrum of cardiac phenotypes associated with SCN5A channelopathy, underlining the complex clinical manifestations of genetic variations within this gene. 29635243 2018
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.100 Biomarker disease BEFREE Irritable bowel syndrome patients have SCN5A channelopathies that lead to decreased Na<sub>V</sub>1.5 current and mechanosensitivity. 29167113 2018
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.100 GeneticVariation disease BEFREE The genetic test was positive in 12 (26%; 95% CI 15.6-40.3) patients; 10 (21.7%) had PKP2 mutation related to arrhythmogenic right ventricular dysplasia mutation, one (2.2%) KCNQ1 mutation and one (2.2%) SCN5A mutation related to channelopathies. 29705154 2018
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.100 GeneticVariation disease BEFREE Impact statement The field of ion channelopathy caused by dysfunctional Nav1.5 due to SCN5A mutations is rapidly evolving as novel technologies of electrophysiology are introduced and our understanding of the mechanisms of various arrhythmias develops. 29806494 2018
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.100 GeneticVariation disease BEFREE Development of a Patient-Derived Induced Pluripotent Stem Cell Model for the Investigation of SCN5A-D1275N-Related Cardiac Sodium Channelopathy. 28637969 2017
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.100 GeneticVariation disease BEFREE SCN5A mutations involving the α-subunit of the cardiac voltage-gated muscle sodium channel (NaV1.5) result in different cardiac channelopathies with an autosomal-dominant inheritance such as Brugada syndrome. 26036855 2016
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.100 GeneticVariation disease BEFREE This complex protein is encoded by the SCN5A gene that, in its mutated form, is implicated in various diseases, particularly channelopathies, specifically at cardiac tissue level. 26209461 2015
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.100 GeneticVariation disease BEFREE In addition, several SCN5A mutations lead to 'cardiac sodium channelopathy overlap syndrome'. 25426816 2015
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.100 GeneticVariation disease BEFREE Together, the results from this study demonstrate that the SCN5A(E558X/+) pig model accurately phenocopies many aspects of human cardiac sodium channelopathy, including conduction slowing and increased susceptibility to ventricular arrhythmias. 25500882 2015
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.100 GeneticVariation disease BEFREE This large-animal model exhibits many phenotypes seen in patients with SCN5A loss-of-function mutations and has the potential to provide important insight into sodium channelopathies. 25500878 2015
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.100 GeneticVariation disease BEFREE The notable pathophysiological overlap between familial SSS and Na channelopathy indicates that familial SSS with SCN5A mutations may represent a subset of cardiac Na channelopathy with strong male predominance and early clinical manifestations. 24762805 2014
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.100 GeneticVariation disease BEFREE Most channelopathy-associated variants involved the SCN5A gene (68.4% in infants, 50% in non-infants). 24631775 2014
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.100 GeneticVariation disease BEFREE Hundreds of genetic variants in SCN5A, the gene coding for the pore-forming subunit of the cardiac sodium channel, Na(v) 1.5, have been described in patients with cardiac channelopathies as well as in individuals from control cohorts. 23692053 2013
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.100 GeneticVariation disease BEFREE Cardiac sodium channelopathy associated with SCN5A mutations: electrophysiological, molecular and genetic aspects. 23818691 2013
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.100 GeneticVariation disease BEFREE This observation confirms the possibility that SCN5A mutations may confer susceptibility for recurrent seizure activity, supporting the emerging concept of a genetically determined cardiocerebral channelopathy. 23538271 2013
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.100 GeneticVariation disease BEFREE We report a Korean case of an overlap syndrome of cardiac sodium channelopathy with SCN5A p.R1193Q polymorphism, treated by the placement of an intrapericardial implantable cardioverter-defibrillator (ICD) at the age of 27 months. 22519808 2012
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.100 Biomarker disease BEFREE The mutations in SCN5A define a sub-group of Na(v)1.5/SCN5A-related phenotypes among cardiac genetic channelopathies. 19744495 2010
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.100 GeneticVariation disease BEFREE In loss-of-function SCN5A channelopathies, patients carrying T and M(inactive) mutations develop a more severe phenotype than those with M(active) mutations. 19251209 2009
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.100 Biomarker disease BEFREE SCN5A channelopathies--an update on mutations and mechanisms. 19027780 2009
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.100 GeneticVariation disease BEFREE Genetically modified mice rapidly appeared as promising tools for understanding the pathophysiological sequence of cardiac SCN5A-related channelopathies and several mouse models have been established. 19041666 2009
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.100 GeneticVariation disease BEFREE Various SCN5A mutations are now known to present with mixed phenotypes, a presentation that has become known as "overlap syndrome of cardiac sodium channelopathy." 18436145 2008
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.100 GeneticVariation disease BEFREE The aim of the present study was to elucidate the molecular mechanism underlying the concomitant occurrence of cardiac conduction disease and long QT syndrome (LQT3), two SCN5A channelopathies that are explained by loss-of-function and gain-of-function, respectively, in the cardiac Na+ channel. 18065446 2008
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.100 GeneticVariation disease BEFREE This is the first report of an unconventional intronic splice site mutation in the SCN5A gene leading to cardiac sodium channelopathy. 15863661 2005
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.100 GeneticVariation disease BEFREE Here, we review the causal link between SIDS and mutations involving the SCN5A-encoded cardiac sodium channel, provide new findings following extensive postmortem genetic testing of long QT syndrome (LQTS)-associated potassium channel genes in a population-based cohort of SIDS, and summarize the current understanding regarding the spectrum and prevalence of cardiac channelopathies in the pathogenesis of SIDS. 15913580 2005
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.100 Biomarker disease BEFREE Mutations in sodium channel alpha-subunit gene (SCN5A) result in multiple arrhythmic syndromes, including long QT3 (LQT3), Brugada syndrome (BS), an inherited cardiac conduction defect, sudden unexpected nocturnal death syndrome (SUNDS) and sudden infant death syndrome (SIDS), constituting a spectrum of disease entities termed Na+ channelopathies. 14753626 2003