Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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