×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.910
GeneticVariation
disease
CLINVAR
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
0.910
Biomarker
disease
CTD_human
Variable Na(v)1.5 protein expression from the wild-type allele correlates with the penetrance of cardiac conduction disease in the Scn5a(+/-) mouse model.
20174578
2010
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.910
GeneticVariation
disease
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
0.910
Biomarker
disease
CTD_human
Brugada syndrome ECG provoked by the selective serotonin reuptake inhibitor fluvoxamine.
19875396
2010
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.910
GeneticVariation
disease
UNIPROT
De Novo Mutation in the SCN5A Gene Associated with Brugada Syndrome.
26279430
2015
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.910
Biomarker
disease
CTD_human
Unmasking of brugada syndrome by lithium.
16144991
2005
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.910
GeneticVariation
disease
CLINVAR
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
0.910
GeneticVariation
disease
CLINVAR
Facilitatory and inhibitory effects of SCN5A mutations on atrial fibrillation in Brugada syndrome.
21273195
2011
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.910
Biomarker
disease
CTD_human
Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.
23872634
2013
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.910
GeneticVariation
disease
CLINVAR
Unconventional intronic splice site mutation in SCN5A associates with cardiac sodium channelopathy.
15863661
2005
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.910
GeneticVariation
disease
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
0.910
GeneticVariation
disease
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
0.910
Biomarker
disease
CTD_human
Concomitant-acquired Long QT and Brugada syndromes associated with indapamide-induced hypokalemia and hyponatremia.
18507554
2008
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.910
Biomarker
disease
GENOMICS_ENGLAND
SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome.
7889574
1995
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.910
GeneticVariation
disease
CLINVAR
Cryptic 5' splice site activation in SCN5A associated with Brugada syndrome.
15808832
2005
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.910
GeneticVariation
disease
UNIPROT
Distinct functional defect of three novel Brugada syndrome related cardiac sodium channel mutations.
19272188
2009
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.910
GeneticVariation
disease
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
0.910
GeneticVariation
disease
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
0.910
GeneticVariation
disease
UNIPROT
A novel SCN5A mutation, F1344S, identified in a patient with Brugada syndrome and fever-induced ventricular fibrillation.
16616735
2006
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.910
GeneticVariation
disease
UNIPROT
Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent.
10532948
1999
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.910
Biomarker
disease
CTD_human
Criteria for arrhythmogenicity in genetically-modified Langendorff-perfused murine hearts modelling the congenital long QT syndrome type 3 and the Brugada syndrome.
17805561
2008
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.910
GeneticVariation
disease
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
0.910
GeneticVariation
disease
UNIPROT
A sodium channel pore mutation causing Brugada syndrome.
17198989
2007
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.910
GeneticVariation
disease
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
0.910
GeneticVariation
disease
UNIPROT
[Novel SCN5A gene mutations associated with Brugada syndrome: V95I, A1649V and delF1617].
17081365
2006