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 MOG1 rescues defective trafficking of Na(v)1.5 mutations in Brugada syndrome and sick sinus syndrome. 23420830

2013
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: 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: 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: C1837845
Disease: SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE
SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE 		0.710 GeneticVariation UNIPROT [Cardiac sinus node dysfunction due to a new mutation of the SCN5A gene]. 22795782

2012
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
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 Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family. 11748104

2001
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		0.800 GeneticVariation UNIPROT The correlation between the biophysical data and arrhythmia susceptibility suggested that the SIDS was secondary to the LQT3-associated S1333Y mutation. 19302788

2009
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		0.800 GeneticVariation UNIPROT We studied three major genes causing long QT syndrome in 42 Japanese SIDS victims and found five mutations, KCNQ1-K598R, KCNH2-T895M, SCN5A-F532C, SCN5A-G1084S, and SCN5A-F1705S, in four cases; one case had both KCNH2-T895M and SCN5A-G1084S. 18596570

2008
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C2751898
Disease: Ventricular Fibrillation, Paroxysmal Familial, 1
Ventricular Fibrillation, Paroxysmal Familial, 1 		0.800 GeneticVariation UNIPROT These findings suggest that SCN5A is one of the responsible genes for IVF patients who do not show typical ECG manifestations of the Brugada syndrome. 10940383

2000
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1832680
Disease: CARDIOMYOPATHY, DILATED, 1E
CARDIOMYOPATHY, DILATED, 1E 		0.900 GeneticVariation UNIPROT MOG1 rescues defective trafficking of Na(v)1.5 mutations in Brugada syndrome and sick sinus syndrome. 23420830

2013
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1832680
Disease: CARDIOMYOPATHY, DILATED, 1E
CARDIOMYOPATHY, DILATED, 1E 		0.900 GeneticVariation UNIPROT SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia. 15466643

2004
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.910 GeneticVariation UNIPROT SCN5A(K817E), a novel Brugada syndrome-associated mutation that alters the activation gating of NaV1.5 channel. 26776555

2016
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.910 GeneticVariation UNIPROT De Novo Mutation in the SCN5A Gene Associated with Brugada Syndrome. 26279430

2015
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.910 GeneticVariation UNIPROT p.D1690N Nav1.5 rescues p.G1748D mutation gating defects in a compound heterozygous Brugada syndrome patient. 23085483

2013
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.910 GeneticVariation UNIPROT Electrophysiological characteristics of a SCN5A voltage sensors mutation R1629Q associated with Brugada syndrome. 24167619

2013
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.910 GeneticVariation UNIPROT MOG1 rescues defective trafficking of Na(v)1.5 mutations in Brugada syndrome and sick sinus syndrome. 23420830

2013
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 Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies. 19251209

2009
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.910 GeneticVariation UNIPROT Distinct functional defect of three novel Brugada syndrome related cardiac sodium channel mutations. 19272188

2009
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 The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome. 18451998

2008
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.910 GeneticVariation UNIPROT Correlations between clinical and physiological consequences of the novel mutation R878C in a highly conserved pore residue in the cardiac Na+ channel. 18616619

2008
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.910 GeneticVariation UNIPROT Subepicardial phase 0 block and discontinuous transmural conduction underlie right precordial ST-segment elevation by a SCN5A loss-of-function mutation. 18456723

2008
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