×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.980
GeneticVariation
disease
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
0.980
GermlineCausalMutation
disease
ORPHANET
Identification of a strong genetic background for progressive cardiac conduction defect by epidemiological approach.
22717692
2012
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.980
Biomarker
disease
GENOMICS_ENGLAND
Concomitant Brugada-like and short QT electrocardiogram linked to SCN5A mutation.
22490985
2012
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.980
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
0.980
GermlineCausalMutation
disease
ORPHANET
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
0.980
GeneticVariation
disease
UNIPROT
A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation.
12569159
2003
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.980
GeneticVariation
disease
UNIPROT
Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system.
12574143
2003
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.980
GermlineCausalMutation
disease
ORPHANET
In a French family, we have identified a splicing mutation in the SCN5A gene leading to hereditary progressive cardiac conduction defect .
12598077
2003
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.980
GeneticVariation
disease
UNIPROT
Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block.
11804990
2002
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.980
GeneticVariation
disease
UNIPROT
A sodium-channel mutation causes isolated cardiac conduction disease.
11234013
2001
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.980
Biomarker
disease
GENOMICS_ENGLAND
SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome.
7889574
1995
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.980
Biomarker
disease
CTD_human
×
Entrez Id:
54795
Gene Symbol:
TRPM4
TRPM4
0.330
GermlineCausalMutation
disease
ORPHANET
Gain-of-function mutations in TRPM4 cause autosomal dominant isolated cardiac conduction disease.
20562447
2010
×
Entrez Id:
54795
Gene Symbol:
TRPM4
TRPM4
0.330
GermlineCausalMutation
disease
ORPHANET
Impaired endocytosis of the ion channel TRPM4 is associated with human progressive familial heart block type I.
19726882
2009
×
Entrez Id:
1482
Gene Symbol:
NKX2-5
NKX2-5
0.300
GermlineModifyingMutation
disease
ORPHANET
Novel NKX2-5 mutations responsible for congenital heart disease.
22179962
2011
×
Entrez Id:
6324
Gene Symbol:
SCN1B
SCN1B
0.300
GermlineCausalMutation
disease
ORPHANET
Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans.
18464934
2008