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: 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 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 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 Double SCN5A mutation underlying asymptomatic Brugada syndrome. 15851320

2005
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 Genetic analysis of the cardiac sodium channel gene SCN5A in Koreans with Brugada syndrome. 15338453

2004
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.910 GeneticVariation UNIPROT Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome. 11823453

2002
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.910 GeneticVariation UNIPROT Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. 9521325

1998
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: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.910 GeneticVariation UNIPROT Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients. 12106943

2002
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.910 GeneticVariation UNIPROT 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: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.910 GeneticVariation UNIPROT Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome. 10690282

1999
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		1.000 GeneticVariation 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
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 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: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.910 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: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.910 GeneticVariation UNIPROT Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. 10532948

1999
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1879286
Disease: Hereditary bundle branch system defect
Hereditary bundle branch system defect 		0.980 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 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 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 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: 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 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 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: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.910 GeneticVariation UNIPROT Natural history of Brugada syndrome: insights for risk stratification and management. 11901046

2002