Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 287
Gene Symbol: ANK2
ANK2
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.300 Biomarker CLINGEN "Defining the cellular phenotype of ""ankyrin-B syndrome"" variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytes." 17242276

2007
Entrez Id: 23171
Gene Symbol: GPD1L
GPD1L
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.360 Biomarker CLINGEN GPD1L does not appear to be a major cause of Brugada syndrome in the Japanese population. 18762705

2008
Entrez Id: 29098
Gene Symbol: RANGRF
RANGRF
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.550 Biomarker CLINGEN MOG1 was screened by direct sequencing in patients with BrS and idiopathic ventricular fibrillation. 21447824

2011
Entrez Id: 54795
Gene Symbol: TRPM4
TRPM4
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.530 GermlineCausalMutation ORPHANET TRPM4 mutations account for about 6% of BrS. 23382873

2013
Entrez Id: 54795
Gene Symbol: TRPM4
TRPM4
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.530 SusceptibilityMutation ORPHANET TRPM4 mutations account for about 6% of BrS. 23382873

2013
Entrez Id: 54795
Gene Symbol: TRPM4
TRPM4
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.530 Biomarker CLINGEN TRPM4 mutations account for about 6% of BrS. 23382873

2013
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.550 Biomarker CLINGEN SCN1B mutations have been associated with Brugada syndrome as well as with other cardiac arrhythmias and familial epilepsy. 25253298

2014
Entrez Id: 23171
Gene Symbol: GPD1L
GPD1L
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.360 Biomarker CLINGEN A GPD1-L mutation decreases SCN5A surface membrane expression, reduces inward Na+ current, and causes Brugada syndrome. 17967977

2007
Entrez Id: 55800
Gene Symbol: SCN3B
SCN3B
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.530 Biomarker CLINGEN A missense mutation (L10P) was detected in exon 1 of SCN3B, the beta 3 subunit of the cardiac sodium channel, but not in any other gene known to be associated with Brugada syndrome or in 296 controls. 20031595

2009
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		1.000 Biomarker CTD_human A mutation in the cardiac sodium channel gene (SCN5A) has been described in patients with the syndrome of right bundle branch block, ST-segment elevation in leads V1 to V3, and sudden death (Brugada syndrome). 10662748

2000
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.450 Biomarker CLINGEN A novel KCNH2 mutation as a modifier for short QT interval. 18692916

2009
Entrez Id: 29098
Gene Symbol: RANGRF
RANGRF
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.550 Biomarker CLINGEN A novel nonsense variant in Nav1.5 cofactor MOG1 eliminates its sodium current increasing effect and may increase the risk of arrhythmias. 21621375

2011
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.550 Biomarker CTD_human A novel rare variant in SCN1Bb linked to Brugada syndrome and SIDS by combined modulation of Na(v)1.5 and K(v)4.3 channel currents. 22155597

2012
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.550 Biomarker CLINGEN A novel rare variant in SCN1Bb linked to Brugada syndrome and SIDS by combined modulation of Na(v)1.5 and K(v)4.3 channel currents. 22155597

2012
Entrez Id: 6336
Gene Symbol: SCN10A
SCN10A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.800 Biomarker CLINGEN A tetrodotoxin-resistant voltage-gated sodium channel from human dorsal root ganglia, hPN3/SCN10A. 9839820

1998
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.510 Biomarker GENOMICS_ENGLAND ABCC9 is a novel Brugada and early repolarization syndrome susceptibility gene. 24439875

2014
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.510 GermlineCausalMutation ORPHANET ABCC9 is a novel Brugada and early repolarization syndrome susceptibility gene. 24439875

2014
Entrez Id: 783
Gene Symbol: CACNB2
CACNB2
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.510 Biomarker CLINGEN Accelerated inactivation of the L-type calcium current due to a mutation in CACNB2b underlies Brugada syndrome. 19358333

2009
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		1.000 Biomarker CTD_human Active cascade screening in primary inherited arrhythmia syndromes: does it lead to prophylactic treatment? 20513597

2010
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.450 Biomarker CLINGEN Additional next generation sequencing analyses revealed the p.R25W mutation in KCNH2 gene in SCN5A-negative BrS patients. 25626866

2015
Entrez Id: 54795
Gene Symbol: TRPM4
TRPM4
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.530 Biomarker CLINGEN Among the 45 genotyped patients, only one presented a SCN5A mutation, whereas a TRPM4 mutation was found in another patient.Both belonged to BrS group II. 23293604

2012
Entrez Id: 781
Gene Symbol: CACNA2D1
CACNA2D1
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.620 Biomarker CLINGEN Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics. 24309898

2014
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.650 Biomarker CLINGEN Arrhythmogenic cardiomyopathy and provocable Brugada ECG in a patient caused by missense mutation in plakophilin-2. 24681023

2014
Entrez Id: 6336
Gene Symbol: SCN10A
SCN10A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.800 Biomarker CLINGEN Blocking Scn10a channels in heart reduces late sodium current and is antiarrhythmic. 22723299

2012
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		1.000 Biomarker CTD_human Brugada syndrome ECG provoked by the selective serotonin reuptake inhibitor fluvoxamine. 19875396

2010