×
Entrez Id:
54795
Gene Symbol:
TRPM4
TRPM4
0.530
GeneticVariation
disease
BEFREE
TRPM4 mutations account for about 6% of BrS .
23382873
2013
×
Entrez Id:
54795
Gene Symbol:
TRPM4
TRPM4
0.530
GermlineCausalMutation
disease
ORPHANET
TRPM4 mutations account for about 6% of BrS .
23382873
2013
×
Entrez Id:
54795
Gene Symbol:
TRPM4
TRPM4
0.530
SusceptibilityMutation
disease
ORPHANET
TRPM4 mutations account for about 6% of BrS .
23382873
2013
×
Entrez Id:
54795
Gene Symbol:
TRPM4
TRPM4
0.530
Biomarker
disease
CLINGEN
TRPM4 mutations account for about 6% of BrS .
23382873
2013
×
Entrez Id:
6324
Gene Symbol:
SCN1B
SCN1B
0.550
Biomarker
disease
CLINGEN
SCN1B mutations have been associated with Brugada syndrome as well as with other cardiac arrhythmias and familial epilepsy.
25253298
2014
×
Entrez Id:
6324
Gene Symbol:
SCN1B
SCN1B
0.550
GeneticVariation
disease
BEFREE
SCN1B mutations have been associated with Brugada syndrome as well as with other cardiac arrhythmias and familial epilepsy.
25253298
2014
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
1.000
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
1.000
GeneticVariation
disease
BEFREE
SCN5A genetic variants were identified in 14 of the 47 patients with BrS and four of the 14 patients with BrS had missense mutations (1651 G>A, 1776 C>G, 3578 G>A).
26154754
2015
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
1.000
GeneticVariation
disease
BEFREE
SCN5A encodes the α-subunit of NaV1.5 voltage-gated Na(+) channel, and some of its mutations are linked to BrS .
26776555
2016
×
Entrez Id:
54795
Gene Symbol:
TRPM4
TRPM4
0.530
GeneticVariation
disease
BEFREE
TRPM4 mutations have been linked to cardiac conduction disease and Brugada syndrome .
27207958
2016
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
1.000
GeneticVariation
disease
BEFREE
SCN5A -E1784K is the most common mutation associated with BrS and LQTS3.
27381756
2016
×
Entrez Id:
376132
Gene Symbol:
LRRC10
LRRC10
0.010
Biomarker
disease
BEFREE
LRRC10 may be a new susceptible gene for SUNDS , and LRRC10 variant was initially and genetically linked to BrS -associated arrhythmia.
28032242
2017
×
Entrez Id:
23171
Gene Symbol:
GPD1L
GPD1L
0.360
Biomarker
disease
BEFREE
GPD1L is a crucial interacting protein of SCN5A, a gene encoded sodium channel α-subunit Na<sub>v</sub> 1.5 and mainly associated with Brugada syndrome (BrS ).
29077258
2018
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
1.000
GeneticVariation
disease
BEFREE
SCN5A (R1193Q ) is often identified in patients with type 3 long QT syndrome and Brugada syndrome .
30419068
2018
×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
0.570
GeneticVariation
disease
BEFREE
CACNA1C (NM_000719.6) encodes an L-type calcium voltage-gated calcium channel (Ca<sub>v</sub> 1.2), and pathogenic variants have been associated with two distinct clinical entities: Timothy syndrome and Brugada syndrome .
30513141
2018
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
1.000
GeneticVariation
disease
BEFREE
SCN5A Nonsense Mutation and NF1 Frameshift Mutation in a Family With Brugada Syndrome and Neurofibromatosis.
30828344
2019
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
1.000
GeneticVariation
disease
BEFREE
E1784K is the most common mixed syndrome SCN5a mutation underpinning both Brugada syndrome type 1 (BrS1) and Long-QT syndrome type 3 (LQT3).
29483621
2018
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
1.000
GeneticVariation
disease
BEFREE
H558R , a common SCN5A polymorphism, modifies the clinical phenotype of Brugada syndrome by modulating DNA methylation of SCN5A promoters.
29202755
2017
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
1.000
GeneticVariation
disease
BEFREE
A Brugada syndrome locus distinct from SCN5A is associated with progressive conduction disease, a low sensitivity to procainamide testing, and a relatively good prognosis in a single large pedigree.
11839626
2002
×
Entrez Id:
23171
Gene Symbol:
GPD1L
GPD1L
0.360
GeneticVariation
disease
LHGDN
A GPD1-L mutation decreases SCN5A surface membrane expression, reduces inward Na+ current, and causes Brugada syndrome .
17967977
2007
×
Entrez Id:
23171
Gene Symbol:
GPD1L
GPD1L
0.360
Biomarker
disease
CLINGEN
A GPD1-L mutation decreases SCN5A surface membrane expression, reduces inward Na+ current, and causes Brugada syndrome .
17967977
2007
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
1.000
CausalMutation
disease
CLINVAR
A Brugada syndrome proband with compound heterozygote SCN5A mutations identified from a Chinese family in Singapore.
25829473
2016
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
1.000
CausalMutation
disease
CLINVAR
A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill.
12522116
2003
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
1.000
GeneticVariation
disease
CLINVAR
A comprehensive electrocardiographic, molecular, and echocardiographic study of Brugada syndrome: validation of the 2013 diagnostic criteria.
24721456
2014
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
1.000
CausalMutation
disease
CLINVAR
A connexin40 mutation associated with a malignant variant of progressive familial heart block type I.
22247482
2012