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encyclopedia of Rare Disease Annotation for Precision Medicine



   brugada syndrome
  

Disease ID 43
Disease brugada syndrome
Definition
An autosomal dominant defect of cardiac conduction that is characterized by an abnormal ST-segment in leads V1-V3 on the ELECTROCARDIOGRAM resembling a right BUNDLE-BRANCH BLOCK; high risk of VENTRICULAR TACHYCARDIA; or VENTRICULAR FIBRILLATION; SYNCOPAL EPISODE; and possible sudden death. This syndrome is linked to mutations of gene encoding the cardiac SODIUM CHANNEL alpha subunit.
Synonym
brgda1
brugada syndrome (disorder)
brugada syndrome 1
brugada syndrome [disease/finding]
brugada syndrome ventricular arrhythmia
brugada syndrome ventricular arrhythmia by ecg finding
brugada syndrome ventricular arrhythmia by ekg finding
brugadas syndrome
right bundle branch block, st segment elevation, and sudden death syndrome
sudden unexplained nocturnal death syndrome
sunds
ventricular arrhythmia associated with brugada syndrome
Orphanet
OMIM
DOID
UMLS
C1142166
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:11)
C0006384  |  bundle branch block  |  2
C0085615  |  right bundle branch block  |  2
C0878544  |  cardiomyopathy  |  1
C0037052  |  sick sinus syndrome  |  1
C0043202  |  wpw syndrome  |  1
C0152021  |  congenital heart disease  |  1
C0037315  |  sleep-disordered breathing  |  1
C0917996  |  cerebral aneurysm  |  1
C0018799  |  heart disease  |  1
C0003467  |  anxiety  |  1
C0011570  |  depression  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:18)
775  |  CACNA1C  |  CLINVAR;ORPHANET;GHR;UniProtKB-KW
6324  |  SCN1B  |  CTD_human;ORPHANET;GHR;UniProtKB-KW
10021  |  HCN4  |  ORPHANET;GHR;UniProtKB-KW
23171  |  GPD1L  |  ORPHANET;GHR;UniProtKB-KW
3764  |  KCNJ8  |  ORPHANET;GHR
3757  |  KCNH2  |  UNIPROT
3752  |  KCND3  |  ORPHANET;GHR;UniProtKB-KW
6331  |  SCN5A  |  CLINVAR;GWASCAT;GHR;UniProtKB-KW;ORPHANET;UNIPROT;CTD_human
783  |  CACNB2  |  ORPHANET;GHR;UniProtKB-KW
10008  |  KCNE3  |  CLINVAR;ORPHANET;GHR;UniProtKB-KW
7871  |  SLMAP  |  ORPHANET;GHR
23493  |  HEY2  |  CTD_human
6336  |  SCN10A  |  CTD_human;GWASCAT;ORPHANET
6327  |  SCN2B  |  UniProtKB-KW;GHR
54795  |  TRPM4  |  ORPHANET;GHR
29098  |  RANGRF  |  GHR
55800  |  SCN3B  |  CLINVAR;ORPHANET;GHR;UniProtKB-KW
781  |  CACNA2D1  |  ORPHANET;GHR
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:8)
23171  |  GPD1L  |  CIPHER
3119  |  HLA-DQB1  |  CIPHER
3123  |  HLA-DRB1  |  CIPHER
6324  |  SCN1B  |  CIPHER;CTD_human
6327  |  SCN2B  |  CIPHER
6331  |  SCN5A  |  CIPHER;CTD_human
6336  |  SCN10A  |  CTD_human
23493  |  HEY2  |  CTD_human
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:56)
10142  |  AKAP9  |  3.012  |  DISEASES
287  |  ANK2  |  4.092  |  DISEASES
781  |  CACNA2D1  |  3.909  |  DISEASES
9254  |  CACNA2D2  |  1.91  |  DISEASES
859  |  CAV3  |  2.886  |  DISEASES
23607  |  CD2AP  |  1.627  |  DISEASES
1180  |  CLCN1  |  2.196  |  DISEASES
22894  |  DIS3  |  1.918  |  DISEASES
1739  |  DLG1  |  1.438  |  DISEASES
1804  |  DPP6  |  2.427  |  DISEASES
1825  |  DSC3  |  1.868  |  DISEASES
1832  |  DSP  |  1.471  |  DISEASES
2257  |  FGF12  |  2.146  |  DISEASES
2259  |  FGF14  |  1.896  |  DISEASES
2626  |  GATA4  |  1.224  |  DISEASES
2935  |  GSPT1  |  2.567  |  DISEASES
23493  |  HEY2  |  3.866  |  DISEASES
3664  |  IRF6  |  2.366  |  DISEASES
79191  |  IRX3  |  1.681  |  DISEASES
10265  |  IRX5  |  2.146  |  DISEASES
57158  |  JPH2  |  1.296  |  DISEASES
102723508  |  KANTR  |  2.266  |  DISEASES
3739  |  KCNA4  |  1.215  |  DISEASES
8514  |  KCNAB2  |  2.201  |  DISEASES
9312  |  KCNB2  |  2.39  |  DISEASES
3751  |  KCND2  |  2.653  |  DISEASES
3753  |  KCNE1  |  3.888  |  DISEASES
30819  |  KCNIP2  |  3.641  |  DISEASES
3767  |  KCNJ11  |  1.132  |  DISEASES
3762  |  KCNJ5  |  2.724  |  DISEASES
3775  |  KCNK1  |  2.041  |  DISEASES
57582  |  KCNT1  |  1.694  |  DISEASES
376132  |  LRRC10  |  2.73  |  DISEASES
4519  |  MT-CYB  |  1.395  |  DISEASES
89796  |  NAV1  |  4.113  |  DISEASES
9722  |  NOS1AP  |  1.442  |  DISEASES
23089  |  PEG10  |  1.036  |  DISEASES
5293  |  PIK3CD  |  3.47  |  DISEASES
5901  |  RAN  |  1.237  |  DISEASES
5950  |  RBP4  |  1.151  |  DISEASES
4920  |  ROR2  |  1.659  |  DISEASES
6262  |  RYR2  |  3.861  |  DISEASES
6336  |  SCN10A  |  3.815  |  DISEASES
6324  |  SCN1B  |  5.274  |  DISEASES
6329  |  SCN4A  |  2.541  |  DISEASES
6330  |  SCN4B  |  4.561  |  DISEASES
6331  |  SCN5A  |  8.608  |  DISEASES
6332  |  SCN7A  |  2.517  |  DISEASES
6337  |  SCNN1A  |  1.508  |  DISEASES
116085  |  SLC22A12  |  1.911  |  DISEASES
6546  |  SLC8A1  |  1.214  |  DISEASES
400410  |  ST20  |  3.935  |  DISEASES
1678  |  TIMM8A  |  1.135  |  DISEASES
7179  |  TPTE  |  2.559  |  DISEASES
7419  |  VDAC3  |  2.295  |  DISEASES
331  |  XIAP  |  2.844  |  DISEASES
Locus
Symbol | Locus(Total Locus:14)
KCND3  |  1p13.2
CACNA1C  |  12p13.33
KCNE3  |  11q13.4
SCN1B  |  19q13.11
CACNB2  |  10p12
CACNA2D1  |  7q21.11
SCN5A  |  3p22.2
TRPM4  |  19q13.3
GPD1L  |  3p22.3
SCN10A  |  3p22.2
HCN4  |  15q24.1
SCN3B  |  11q24.1
SLMAP  |  3p14.3
KCNJ8  |  12p12.1
Disease ID 43
Disease brugada syndrome
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:2)
HP:0001663  |  Ventricular fibrillation
HP:0001695  |  Cardiac arrest
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:27)
HP:0001663  |  Ventricular fibrillation  |  22
HP:0011675  |  Arrhythmias  |  17
HP:0004308  |  Ventricular arrhythmia  |  12
HP:0004756  |  Ventricular tachycardia  |  9
HP:0001279  |  Syncope  |  8
HP:0001645  |  Sudden cardiac death  |  5
HP:0001649  |  Tachycardia  |  5
HP:0012272  |  Osborne waves  |  4
HP:0001695  |  Cardiac arrest  |  3
HP:0001945  |  Fever  |  3
HP:0011710  |  Bundle-branch block  |  2
HP:0005110  |  Atrial fibrillation  |  2
HP:0011712  |  Right bundle-branch block  |  2
HP:0012668  |  Situational syncope  |  1
HP:0005115  |  arrhythmias, Supraventricular  |  1
HP:0004944  |  Cerebral artery aneurysm  |  1
HP:0012251  |  ST segment elevation  |  1
HP:0004749  |  Atrial flutter  |  1
HP:0000739  |  Anxiety  |  1
HP:0011704  |  Sick sinus syndrome  |  1
HP:0001638  |  Cardiomyopathy  |  1
HP:0001631  |  Atria septal defect  |  1
HP:0011947  |  Respiratory infection  |  1
HP:0004755  |  Supraventricular tachycardia  |  1
HP:0002459  |  Dysautonomia  |  1
HP:0000716  |  Depression  |  1
HP:0002617  |  Aneurysmal dilatation  |  1
Disease ID 43
Disease brugada syndrome
Manually Symptom
UMLS  | Name(Total Manually Symptoms:14)
C2712322  |  tachycardia
C2700501  |  wolff-parkinson-white syndrome
C2347963  |  right ventricular outflow tract tachycardia
C2108112  |  ventricular fibrillation
C1962971  |  myocarditis
C1145628  |  disorders of the autonomic nervous system
C0743841  |  febrile illness
C0684249  |  lung cancer
C0344432  |  polymorphic ventricular tachycardia
C0344431  |  monomorphic ventricular tachycardia
C0340850  |  neurally mediated syncope
C0235480  |  paroxysmal atrial fibrillation
C0232197  |  fibrillation
C0039070  |  syncope
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:7)
Manually Genotype(Total Manually Genotypes:2)
Gene Mutation DOI Article Title
SCN5Ap.A1924Tdoi:10.1038/gim.2015.123Expanded genetic screening panel for the Ashkenazi Jewish population
SCN5Ap.A1924T*doi:10.1038/gim.2015.123Expanded genetic screening panel for the Ashkenazi Jewish population
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:288)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs10428132246677846331SCN5Aumls:C1142166BeFreeWe investigated whether three single-nucleotide polymorphisms (SNPs) (rs11708996; G>C located intronic to SCN5A, rs10428132; T>G located in SCN10A, and rs9388451; T>C located downstream to HEY2) at loci associated with BrS in a recent genome-wide association study (GWAS) also were associated with AF.0.8370360842013SCN10A338736063TG
rs10428132238726346336SCN10Aumls:C1142166GWASCATCommon variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.0.3613572092013SCN10A338736063TG
rs104281322466778423493HEY2umls:C1142166BeFreeWe investigated whether three single-nucleotide polymorphisms (SNPs) (rs11708996; G>C located intronic to SCN5A, rs10428132; T>G located in SCN10A, and rs9388451; T>C located downstream to HEY2) at loci associated with BrS in a recent genome-wide association study (GWAS) also were associated with AF.0.1205428842013SCN10A338736063TG
rs10428132246677846336SCN10Aumls:C1142166BeFreeWe investigated whether three single-nucleotide polymorphisms (SNPs) (rs11708996; G>C located intronic to SCN5A, rs10428132; T>G located in SCN10A, and rs9388451; T>C located downstream to HEY2) at loci associated with BrS in a recent genome-wide association study (GWAS) also were associated with AF.0.3613572092013SCN10A338736063TG
rs11708996238726346331SCN5Aumls:C1142166GWASCATCommon variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.0.8370360842013SCN5A338592432GC
rs11708996246677846331SCN5Aumls:C1142166BeFreeWe investigated whether three single-nucleotide polymorphisms (SNPs) (rs11708996; G>C located intronic to SCN5A, rs10428132; T>G located in SCN10A, and rs9388451; T>C located downstream to HEY2) at loci associated with BrS in a recent genome-wide association study (GWAS) also were associated with AF.0.8370360842013SCN5A338592432GC
rs117089962466778423493HEY2umls:C1142166BeFreeWe investigated whether three single-nucleotide polymorphisms (SNPs) (rs11708996; G>C located intronic to SCN5A, rs10428132; T>G located in SCN10A, and rs9388451; T>C located downstream to HEY2) at loci associated with BrS in a recent genome-wide association study (GWAS) also were associated with AF.0.1205428842013SCN5A338592432GC
rs11708996246677846336SCN10Aumls:C1142166BeFreeWe investigated whether three single-nucleotide polymorphisms (SNPs) (rs11708996; G>C located intronic to SCN5A, rs10428132; T>G located in SCN10A, and rs9388451; T>C located downstream to HEY2) at loci associated with BrS in a recent genome-wide association study (GWAS) also were associated with AF.0.3613572092013SCN5A338592432GC
rs121908441NA10008KCNE3umls:C1142166CLINVARNA0.24NAKCNE31174457268CT
rs121912775NA775CACNA1Cumls:C1142166CLINVARNA0.244895885NACACNA1C122550020GA
rs121912776NA775CACNA1Cumls:C1142166CLINVARNA0.244895885NACACNA1C122115290CT
rs12191277624775099801CALM1umls:C1142166BeFreeEffect of the Brugada syndrome mutation A39V on calmodulin regulation of Cav1.2 channels.0.0005428842014CACNA1C122115290CT
rs12191277622385640775CACNA1Cumls:C1142166BeFreeThe Brugada syndrome mutation A39V does not affect surface expression of neuronal rat Cav1.2 channels.0.2448958852012CACNA1C122115290CT
rs12191277624775099805CALM2umls:C1142166BeFreeEffect of the Brugada syndrome mutation A39V on calmodulin regulation of Cav1.2 channels.0.0005428842014CACNA1C122115290CT
rs12191277624775099775CACNA1Cumls:C1142166BeFreeEffect of the Brugada syndrome mutation A39V on calmodulin regulation of Cav1.2 channels.0.2448958852014CACNA1C122115290CT
rs12191277624775099808CALM3umls:C1142166BeFreeEffect of the Brugada syndrome mutation A39V on calmodulin regulation of Cav1.2 channels.0.0005428842014CACNA1C122115290CT
rs121918282NA55800SCN3Bumls:C1142166CLINVARNA0.240814326NASCN3B;LOC10536954311123653773AG
rs12720452119972816331SCN5Aumls:C1142166UNIPROTAllelic variants in long-QT disease genes in patients with drug-associated torsades de pointes.0.8370360842002SCN5A338603758CT
rs12720452NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338603758CT
rs137854603NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338550602CT
rs137854609NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338581170CT,A
rs137854611NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338597787GT,A
rs137854612NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338560170CT
rs137854614114105972042EPHA3umls:C1142166BeFreeWe report the analysis of two novel mutations on the same codon, Y1795C (LQT-3) and Y1795H (BrS), expressed in HEK 293 cells and characterized using whole-cell patch clamp procedures.0.0002714422001SCN5A338550988TC
rs137854614169299196331SCN5Aumls:C1142166BeFreeRecently, two novel missense mutations at the same codon in the gene encoding the cardiac Na+ channel (SCN5A) have been identified: Y1795C (causing the LQTS phenotype) and Y1795H (causing the BrS phenotype).0.8370360842006SCN5A338550988TC
rs137854615169299196331SCN5Aumls:C1142166BeFreeRecently, two novel missense mutations at the same codon in the gene encoding the cardiac Na+ channel (SCN5A) have been identified: Y1795C (causing the LQTS phenotype) and Y1795H (causing the BrS phenotype).0.8370360842006SCN5A338550989AG
rs137854615NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338550989AG
rs137854615114105972042EPHA3umls:C1142166BeFreeWe report the analysis of two novel mutations on the same codon, Y1795C (LQT-3) and Y1795H (BrS), expressed in HEK 293 cells and characterized using whole-cell patch clamp procedures.0.0002714422001SCN5A338550989AG
rs137854616NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338566465CT
rs137854617155795346331SCN5Aumls:C1142166BeFreeNav1.5 E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Nav1.5 on the surface of cardiomyocytes.0.8370360842004SCN5A338581002CT
rs137854618NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338566426CT,A
rs146848219NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338604004CT
rs185492581NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338630327TC
rs193922726NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338551188GC,A
rs199473042NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338633304CT
rs199473050NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338633098AC
rs199473051NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338633058CT
rs199473052NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338630425AG
rs199473053NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338630422AC
rs199473054NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338630420CT,G
rs199473054245297736331SCN5Aumls:C1142166BeFreeThree SCN5A mutations (V95I, R121Q, and R367H) have been previously implicated in BrS.0.8370360842013SCN5A338630420CT,G
rs199473055NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338630393GC,A
rs199473056NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338630376GT,A
rs199473058245297736331SCN5Aumls:C1142166BeFreeThree SCN5A mutations (V95I, R121Q, and R367H) have been previously implicated in BrS.0.8370360842013SCN5A338630341CT
rs199473058NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338630341CT
rs199473061NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338622446CT
rs199473062NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338622401CT,G
rs199473063NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338620929CG
rs199473065NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338620921GC
rs199473066NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338620910AG
rs199473067NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338620900GA
rs199473070NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338613811AT,G
rs199473074NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338613758TC
rs199473076NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338609950CT
rs199473079NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338609860GT
rs199473081NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338609841AT
rs199473082NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338609824GA
rs199473083NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338609823CT
rs199473085NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338609794CT
rs199473086NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338609788CT
rs199473088NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338609770CT
rs199473089NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338608198CG
rs199473090NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338608194CT
rs199473091NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338608190GT
rs199473092NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338608175AC
rs199473093NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338606802GA
rs199473095NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338606757CT,A
rs199473096NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338606751GA
rs199473096252610366331SCN5Aumls:C1142166BeFreeElectrophysiological and trafficking defects of the SCN5A T353I mutation in Brugada syndrome are rescued by alpha-allocryptopine.0.8370360842014SCN5A338606751GA
rs199473096171989896331SCN5Aumls:C1142166BeFreeWe have identified a novel threonine-to-isoleucine missense mutation at position 353 (T353I) adjacent to the pore-lining region of domain I of the cardiac sodium channel (SCN5A) in a family with Brugada syndrome.0.8370360842007SCN5A338606751GA
rs199473098NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338606703AT
rs199473101NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338606682CT
rs199473102NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338606133CT
rs199473103NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338606102AG
rs199473104NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338606103CG
rs199473117NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338604745TC
rs199473122NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338603973AT
rs199473123NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338603939CT
rs199473124111232516331SCN5Aumls:C1142166BeFreeA missense mutation of SCN5A that substitutes glutamine for leucine at codon 567 (L567Q, in the cytoplasmic linker between domains I and II) is identified with sudden infant death and Brugada syndrome in one family.0.8370360842001SCN5A338603902AT
rs199473124NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338603902AT
rs199473129NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338603846CT
rs199473133NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338603747GA
rs199473134NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338599046GA
rs199473137NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338599023GC,A
rs199473139NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338598960GA
rs199473143NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338597949TG
rs199473144NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338597944AG,C
rs199473149NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338597841GA
rs199473151NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338597788CT
rs199473153NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338597737CT
rs199473154NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338587563CT
rs199473156NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338587545AG,C
rs199473158NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338587519GA
rs199473159NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338587471CT
rs199473163NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338585974GA
rs199473164NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338585962AG
rs199473167NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338585879CG
rs199473168NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338585846GA
rs199473169NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338585821TG
rs199473170NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338585804AT
rs199473171NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338585801GA
rs199473172NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338585800CT,A
rs199473173NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338585792AT
rs199473174NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338585777CT
rs199473175NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338585749GA
rs199473176NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338585728AC
rs199473178NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338585695AG
rs199473179NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338581355AG
rs199473180NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338581266GC,A
rs199473181NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338581265CT,A
rs199473188NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338579488GT,A
rs199473194NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338579386GA
rs199473199NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338576753CG
rs199473205NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338566567AG
rs199473206NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338566554CT
rs199473207185032326331SCN5Aumls:C1142166BeFreeAbsence of a trafficking defect in R1232W/T1620M, a double SCN5A mutant responsible for Brugada syndrome.0.8370360842008SCN5A338566555GA
rs199473207117865296331SCN5Aumls:C1142166BeFreeExpression and intracellular localization of an SCN5A double mutant R1232W/T1620M implicated in Brugada syndrome.0.8370360842002SCN5A338566555GA
rs199473207NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338566555GA
rs199473208NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338566541CA
rs199473209NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338566542TC
rs199473210NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338566533AG
rs199473211NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338566531CG
rs199473213NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338566503AT
rs199473214NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338566491TC
rs199473217NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338562515GC
rs199473219NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338562446AG
rs199473220NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338562422CA
rs199473221NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338560424AC
rs199473225NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338560397GC,A
rs199473228NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338560362AG
rs199473229NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338560361AG
rs199473230NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338560356GT
rs199473231NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338560355AG
rs199473232NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338560340AC
rs199473233NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338560335CT
rs199473234NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338560320CA
rs199473235NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338560315CT,A
rs199473236NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338560313AC
rs199473237NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338560304CT
rs199473238NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338560252GC
rs199473239NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338560179CT,G
rs199473240NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338560176CT
rs199473241NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338560158GA
rs199473242NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338557275TC
rs199473243NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338557271CA
rs199473244NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338557251CA
rs199473245NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338557236TC
rs199473245114203106331SCN5Aumls:C1142166BeFreeNovel mechanism for Brugada syndrome: defective surface localization of an SCN5A mutant (R1432G).0.8370360842001SCN5A338557236TC
rs199473247NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338557232CT,A
rs199473248NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338556565GA
rs199473249NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338556557CG
rs199473250NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338556536TG
rs199473251NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338556535AG
rs199473252NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338556526AT
rs199473254NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338556476CA
rs199473261NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338555718AT
rs199473266NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338555697GC
rs199473267NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338555694CT
rs199473269NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338554519CT
rs199473270NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338554512TC
rs199473271NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338554450CT
rs199473272NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338554435TG
rs199473273NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338554387CG
rs199473274NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338554380AC
rs199473275NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338554347AG
rs199473280NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338554282CT
rs199473281NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338551534TA
rs199473282106644476331SCN5Aumls:C1142166BeFreeSCN5A mutation (T1620M) causing Brugada syndrome exhibits different phenotypes when expressed in Xenopus oocytes and mammalian cells.0.8370360842000SCN5A338551513GT,A
rs199473282110294096331SCN5Aumls:C1142166BeFreeThe biophysical properties of the SCN5A mutation T1620M associated with Brugada syndrome were examined for defects in intermediate inactivation (I:(M)), a gating process in Na(+) channels with kinetic features intermediate between fast and slow inactivation.0.8370360842000SCN5A338551513GT,A
rs199473282117865296331SCN5Aumls:C1142166BeFreeExpression and intracellular localization of an SCN5A double mutant R1232W/T1620M implicated in Brugada syndrome.0.8370360842002SCN5A338551513GT,A
rs199473282NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338551513GT,A
rs199473282185032326331SCN5Aumls:C1142166BeFreeAbsence of a trafficking defect in R1232W/T1620M, a double SCN5A mutant responsible for Brugada syndrome.0.8370360842008SCN5A338551513GT,A
rs199473284NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338551487GC,A
rs199473289NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338551426GA
rs199473292NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338551391CT,G
rs199473294NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338551334CT
rs199473295NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338551280CT
rs199473296NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338551254CG
rs199473297NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338551246GC,A
rs199473298NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338551238CT
rs199473299NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338551208TC
rs199473299230854836331SCN5Aumls:C1142166BeFreep.D1690N Nav1.5 rescues p.G1748D mutation gating defects in a compound heterozygous Brugada syndrome patient.0.8370360842013SCN5A338551208TC
rs199473302NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338551190AG
rs199473304NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338551154CT
rs199473305NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338551145CT
rs199473309NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338551082CA
rs199473313NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338551051TC
rs199473315245990446331SCN5Aumls:C1142166BeFreeFlecainide provocation reveals concealed brugada syndrome in a long QT syndrome family with a novel L1786Q mutation in SCN5A.0.8370360842015SCN5A338551015AT
rs199473318230854836331SCN5Aumls:C1142166BeFreep.D1690N Nav1.5 rescues p.G1748D mutation gating defects in a compound heterozygous Brugada syndrome patient.0.8370360842013SCN5A338550967TC
rs199473320NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338550878GC
rs199473322NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338550823CG
rs199473322182527576331SCN5Aumls:C1142166BeFreeAnalyses of a novel SCN5A mutation (C1850S): conduction vs. repolarization disorder hypotheses in the Brugada syndrome.0.8370360842008SCN5A338550823CG
rs199473323NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338550756CG
rs199473329NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338550560CT,A
rs199473332NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338550481GA
rs199473340NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338585925GT
rs199473391NA775CACNA1Cumls:C1142166CLINVARNA0.244895885NACACNA1C122607117GA
rs199473392NA775CACNA1Cumls:C1142166CLINVARNA0.244895885NACACNA1C;CACNA1C-AS1122691170GA,T
rs199473550NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338633305CT
rs199473552NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338633205CT
rs199473554NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338630392CT
rs199473556NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338630342GA
rs199473557NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338622475AG
rs199473558NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338620894GC,A
rs199473559NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338620843GT,A
rs199473560NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338613779CG
rs199473561NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338613769GA
rs199473562NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338609836GC
rs199473564NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338608205AG
rs199473565NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338606743CT
rs199473566NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338606689AC
rs199473567NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338606132CT
rs199473568174459196331SCN5Aumls:C1142166BeFreeA paradoxical effect of lidocaine for the N406S mutation of SCN5A associated with Brugada syndrome.0.8370360842007SCN5A338606072TC
rs199473568NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338606072TC
rs199473570NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338605974CT
rs199473573NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338604007AC
rs199473574161557356331SCN5Aumls:C1142166BeFreeWe also identified the SCN5A A551T mutation in 1 of the 28 patients with Brugada syndrome.0.8370360842005SCN5A338603951CT
rs199473574197061596331SCN5Aumls:C1142166BeFreeCharacterization of a novel Nav1.5 channel mutation, A551T, associated with Brugada syndrome.0.8370360842009SCN5A338603951CT
rs199473574NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338603951CT
rs199473577NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338603744GA
rs199473582NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338597755CT
rs199473584NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338586037CT
rs199473586NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338585927AG
rs199473587NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338585845CT
rs199473588NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338585735AG
rs199473589NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338585698TC
rs199473592NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338581091CT,G
rs199473593NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338580995TC
rs199473597NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338575307CT
rs199473599NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338566522CT
rs199473601NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338566436CG
rs199473602NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338562537CA
rs199473605196480626331SCN5Aumls:C1142166BeFreeA novel SCN5A mutation V1340I in Brugada syndrome augmenting arrhythmias during febrile illness.0.8370360842009SCN5A338560374CT
rs199473605NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338560374CT
rs199473606NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338560357CT,A
rs199473607NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338560343AG
rs199473608NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338560247CA
rs199473609NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338560175CT
rs199473610NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338560166TC
rs199473611NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338557272CG
rs199473612NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338557247GA
rs199473613NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338556532TC
rs199473614NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338556491TA
rs199473617NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338554530AT,G
rs199473620NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338554372CT
rs199473621NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338554344CT
rs199473623NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338551486CT
rs199473623241676196331SCN5Aumls:C1142166BeFreeElectrophysiological characteristics of a SCN5A voltage sensors mutation R1629Q associated with Brugada syndrome.0.8370360842013SCN5A338551486CT
rs199473624NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338551447CT
rs199473625NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338551394TC
rs199473626NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338551357GT
rs199473628NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338551231TC
rs199473629NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338551144CT
rs199473634NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338551036GA
rs199473636NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338550791CT
rs199473637NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338550569CT
rs199473639NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338550469AT,C
rs200034939NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338557248CA
rs201641342NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338603950GA
rs28936971117481046331SCN5Aumls:C1142166UNIPROTNovel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family.0.8370360842001NANANANANA
rs28937318245297736331SCN5Aumls:C1142166BeFreeThree SCN5A mutations (V95I, R121Q, and R367H) have been previously implicated in BrS.0.8370360842013SCN5A338606709CT,A
rs28937318NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338606709CT,A
rs28937318121069436331SCN5Aumls:C1142166UNIPROTGenotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients.0.8370360842002SCN5A338606709CT,A
rs28937318118234536331SCN5Aumls:C1142166UNIPROTWe screened patients with SUNDS for mutations in SCN5A, the gene known to cause Brugada syndrome, as well as genes encoding ion channels associated with the long-QT syndrome.0.8370360842002SCN5A338606709CT,A
rs370438420NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338613836TC
rs3918389NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338603948CT,G,A
rs3918389123586756331SCN5Aumls:C1142166UNIPROTSCN5A is expressed in human jejunal circular smooth muscle cells.0.8370360842002SCN5A338603948CT,G,A
rs41261344NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338575385CT
rs41261344158514406331SCN5Aumls:C1142166BeFreeDNA analysis revealed a missense mutation (R1193Q) in the SCN5A gene, previously linked with familial sudden unexpected nocturnal death syndrome, also known as Brugada syndrome.0.8370360842005SCN5A338575385CT
rs41261344118234536331SCN5Aumls:C1142166UNIPROTWe screened patients with SUNDS for mutations in SCN5A, the gene known to cause Brugada syndrome, as well as genes encoding ion channels associated with the long-QT syndrome.0.8370360842002SCN5A338575385CT
rs41311087NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338633255CT
rs41311117183786096331SCN5Aumls:C1142166UNIPROTCardiac sodium channel (SCN5A) variants associated with atrial fibrillation.0.8370360842008SCN5A338550362AC,G,T
rs45471994NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338613752CT
rs45471994185998706331SCN5Aumls:C1142166BeFreeWe characterized a novel double mutation of SCN5A (V232I in DI-S4+L1308F in DIII-S4) identified in a rare case of lidocaine (1 mg/kg)-induced Brugada syndrome.0.8370360842008SCN5A338613752CT
rs45514691NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338554345GA
rs45620037145230396331SCN5Aumls:C1142166UNIPROTCongenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A).0.8370360842003SCN5A338613787GA
rs45620037NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338613787GA
rs45627438NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338604025CT
rs72549410NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338606058CT
rs725522912072470523171GPD1Lumls:C1142166BeFreeRotenone, mitoTEMPO, and 4'-chlorodiazepam also blocked the mutant A280V GPD1-L (glycerol-3-phosphate dehydrogenase 1-like) effect on reducing I(Na), indicating a role for mitochondria in the Brugada syndrome caused by this mutation.0.1264485922010GPD1L332159096CT
rs72554071205583213764KCNJ8umls:C1142166BeFreeThese findings further implicate KCNJ8 as a novel J-wave syndrome susceptibility gene and a marked gain of function in the cardiac K(ATP) Kir6.1 channel secondary to KCNJ8-S422L as a novel pathogenic mechanism for the phenotypic expression of both BrS and ERS.0.1229099162010KCNJ8;LOC1053696891221765733GA
rs72554071220567213764KCNJ8umls:C1142166BeFreeOur results support the hypothesis that KCNJ8 is a susceptibility gene for BrS and ERS and point to S422L as a possible hotspot mutation.0.1229099162012KCNJ8;LOC1053696891221765733GA
rs730880207NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338562461CT
rs794728852NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338609848CT
rs794728914NA6331SCN5Aumls:C1142166CLINVARNA0.837036084NASCN5A338585895AA-
rs9388451246677846336SCN10Aumls:C1142166BeFreeWe investigated whether three single-nucleotide polymorphisms (SNPs) (rs11708996; G>C located intronic to SCN5A, rs10428132; T>G located in SCN10A, and rs9388451; T>C located downstream to HEY2) at loci associated with BrS in a recent genome-wide association study (GWAS) also were associated with AF.0.3613572092013NA6125769231TC
rs9388451246677846331SCN5Aumls:C1142166BeFreeWe investigated whether three single-nucleotide polymorphisms (SNPs) (rs11708996; G>C located intronic to SCN5A, rs10428132; T>G located in SCN10A, and rs9388451; T>C located downstream to HEY2) at loci associated with BrS in a recent genome-wide association study (GWAS) also were associated with AF.0.8370360842013NA6125769231TC
rs93884512466778423493HEY2umls:C1142166BeFreeWe investigated whether three single-nucleotide polymorphisms (SNPs) (rs11708996; G>C located intronic to SCN5A, rs10428132; T>G located in SCN10A, and rs9388451; T>C located downstream to HEY2) at loci associated with BrS in a recent genome-wide association study (GWAS) also were associated with AF.0.1205428842013NA6125769231TC
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:19)
CHR POS SNPID REF ALT ORI_SNPID PMID P_VALUE P_VALUE_TEXT OR/BETA CI95_TEXT GWAS_INITIAL_SAMPLE_SIZE SUB_POPULATION SUPER_POPULATION GWAS_TRAIT HPO_ID HPO_TERM DO_ID DO_TERM MESH_ID MESH_TERM EFO_ID EFO_TERM DOLITE_TERM RISK_ALLELE PUBLICATION_TYPE AA GENE_SYMBOL TYPE REFGENE
338633923rs11708996GCrs11708996238726341.00E-14NA1.73[1.51-1.99]312 European ancestry cases; 1,115 European ancestry controlsEuropean(1427)ALL(1427)EUR(1427)ALL(1427)Brugada syndromeHPOID:0005150Abnormal atrioventricular conductionDOID:0050451Brugada syndromeNANANANACardiovascular diseasers11708996-CResearch Support, Non-U.S. Gov'tGSCN5A
338648062rs6599222CTrs6599222238726343.19E-04NA1.51[1.21-1.89]312 European ancestry cases; 1,115 European ancestry controlsEuropean(1427)ALL(1427)EUR(1427)ALL(1427)Brugada syndromeHPOID:0005150Abnormal atrioventricular conductionDOID:0050451Brugada syndromeNANANANACardiovascular diseasers6599222-TResearch Support, Non-U.S. Gov'tTSCN5A
338719935rs9851724CTrs9851724238726341.56E-04NA1.47[1.21-1.80]312 European ancestry cases; 1,115 European ancestry controlsEuropean(1427)ALL(1427)EUR(1427)ALL(1427)Brugada syndromeHPOID:0005150Abnormal atrioventricular conductionDOID:0050451Brugada syndromeNANANANACardiovascular diseasers9851724-TResearch Support, Non-U.S. Gov'tTNA
338738717rs6599240GArs6599240238726341.20E-13NA2.07[1.71-2.51]312 European ancestry cases; 1,115 European ancestry controlsEuropean(1427)ALL(1427)EUR(1427)ALL(1427)Brugada syndromeHPOID:0005150Abnormal atrioventricular conductionDOID:0050451Brugada syndromeNANANANACardiovascular diseasers6599240-AResearch Support, Non-U.S. Gov'tGSCN10A
338750375rs11129801AGrs11129801238726342.77E-08NA2[1.56-2.55]312 European ancestry cases; 1,115 European ancestry controlsEuropean(1427)ALL(1427)EUR(1427)ALL(1427)Brugada syndromeHPOID:0005150Abnormal atrioventricular conductionDOID:0050451Brugada syndromeNANANANACardiovascular diseasers11129801-GResearch Support, Non-U.S. Gov'tASCN10A
338766675rs6795970AGrs6795970238726341.11E-27NA2.7[2.26-3.23]312 European ancestry cases; 1,115 European ancestry controlsEuropean(1427)ALL(1427)EUR(1427)ALL(1427)Brugada syndromeHPOID:0005150Abnormal atrioventricular conductionDOID:0050451Brugada syndromeNANANANACardiovascular diseasers6795970-GResearch Support, Non-U.S. Gov'tGSCN10A
338771994rs9874633AGrs9874633238726341.66E-13NA2.7[2.07-3.52]312 European ancestry cases; 1,115 European ancestry controlsEuropean(1427)ALL(1427)EUR(1427)ALL(1427)Brugada syndromeHPOID:0005150Abnormal atrioventricular conductionDOID:0050451Brugada syndromeNANANANACardiovascular diseasers9874633-AResearch Support, Non-U.S. Gov'tGSCN10A
338777554rs10428132TGrs10428132238726341.00E-68NA2.55[2.30-2.84]312 European ancestry cases; 1,115 European ancestry controlsEuropean(1427)ALL(1427)EUR(1427)ALL(1427)Brugada syndromeHPOID:0005150Abnormal atrioventricular conductionDOID:0050451Brugada syndromeNANANANACardiovascular diseasers10428132-TResearch Support, Non-U.S. Gov'tGSCN10A
338778191rs7428167TCrs7428167238726341.22E-22NA2.86[2.32-3.53]312 European ancestry cases; 1,115 European ancestry controlsEuropean(1427)ALL(1427)EUR(1427)ALL(1427)Brugada syndromeHPOID:0005150Abnormal atrioventricular conductionDOID:0050451Brugada syndromeNANANANACardiovascular diseasers7428167-TResearch Support, Non-U.S. Gov'tCSCN10A
338780059rs10428168TCrs10428168238726342.36E-15NA2.62[2.06-3.32]312 European ancestry cases; 1,115 European ancestry controlsEuropean(1427)ALL(1427)EUR(1427)ALL(1427)Brugada syndromeHPOID:0005150Abnormal atrioventricular conductionDOID:0050451Brugada syndromeNANANANACardiovascular diseasers10428168-TResearch Support, Non-U.S. Gov'tCSCN10A
338787797rs12638572AGrs12638572238726342.48E-10NA2.12[1.68-2.67]312 European ancestry cases; 1,115 European ancestry controlsEuropean(1427)ALL(1427)EUR(1427)ALL(1427)Brugada syndromeHPOID:0005150Abnormal atrioventricular conductionDOID:0050451Brugada syndromeNANANANACardiovascular diseasers12638572-AResearch Support, Non-U.S. Gov'tGSCN10A
338798836rs6798015CTrs6798015238726343.53E-26NA2.68[2.23-3.21]312 European ancestry cases; 1,115 European ancestry controlsEuropean(1427)ALL(1427)EUR(1427)ALL(1427)Brugada syndromeHPOID:0005150Abnormal atrioventricular conductionDOID:0050451Brugada syndromeNANANANACardiovascular diseasers6798015-TResearch Support, Non-U.S. Gov'tTSCN10A
338802251rs7641844AGrs7641844238726343.80E-08NA2.02[1.57-2.59]312 European ancestry cases; 1,115 European ancestry controlsEuropean(1427)ALL(1427)EUR(1427)ALL(1427)Brugada syndromeHPOID:0005150Abnormal atrioventricular conductionDOID:0050451Brugada syndromeNANANANACardiovascular diseasers7641844-AResearch Support, Non-U.S. Gov'tASCN10A
338803639rs7430439GArs7430439238726341.10E-08NA1.75[1.45-2.13]312 European ancestry cases; 1,115 European ancestry controlsEuropean(1427)ALL(1427)EUR(1427)ALL(1427)Brugada syndromeHPOID:0005150Abnormal atrioventricular conductionDOID:0050451Brugada syndromeNANANANACardiovascular diseasers7430439-GResearch Support, Non-U.S. Gov'tASCN10A
338804588rs6599257CTrs6599257238726341.01E-14NA2.17[1.79-2.65]312 European ancestry cases; 1,115 European ancestry controlsEuropean(1427)ALL(1427)EUR(1427)ALL(1427)Brugada syndromeHPOID:0005150Abnormal atrioventricular conductionDOID:0050451Brugada syndromeNANANANACardiovascular diseasers6599257-CResearch Support, Non-U.S. Gov'tTSCN10A
6126041164rs1268070CTrs1268070238726345.13E-09NA1.8[1.48-2.20]312 European ancestry cases; 1,115 European ancestry controlsEuropean(1427)ALL(1427)EUR(1427)ALL(1427)Brugada syndromeHPOID:0005150Abnormal atrioventricular conductionDOID:0050451Brugada syndromeNANANANACardiovascular diseasers1268070-CResearch Support, Non-U.S. Gov'tTNA
6126090377rs9388451TCrs9388451238726345.00E-17NA1.58[1.42-1.75]312 European ancestry cases; 1,115 European ancestry controlsEuropean(1427)ALL(1427)EUR(1427)ALL(1427)Brugada syndromeHPOID:0005150Abnormal atrioventricular conductionDOID:0050451Brugada syndromeNANANANACardiovascular diseasers9388451-CResearch Support, Non-U.S. Gov'tTNA
12114793240rs883079CTrs883079238726343.97E-04NA1.43[1.17-1.74]312 European ancestry cases; 1,115 European ancestry controlsEuropean(1427)ALL(1427)EUR(1427)ALL(1427)Brugada syndromeHPOID:0005150Abnormal atrioventricular conductionDOID:0050451Brugada syndromeNANANANACardiovascular diseasers883079-TResearch Support, Non-U.S. Gov'tGTBX5
12114799974rs7312625GArs7312625238726345.46E-04NA1.42[1.16-1.74]312 European ancestry cases; 1,115 European ancestry controlsEuropean(1427)ALL(1427)EUR(1427)ALL(1427)Brugada syndromeHPOID:0005150Abnormal atrioventricular conductionDOID:0050451Brugada syndromeNANANANACardiovascular diseasers7312625-AResearch Support, Non-U.S. Gov'tGTBX5
Mapped by lexical matching(Total Items:1)
HP ID HP Name MP ID MP Name Annotation
HP:0001663Ventricular fibrillationMP:0008543atrial fibrillationasynchronous contraction or quivering of individual cardiac muscle fibers in the atria
Mapped by homologous gene(Total Items:2)
HP ID HP Name MP ID MP Name Annotation
HP:0001695Cardiac arrestMP:0013578abnormal stomach glandular region morphologyany structural anomaly of the distinct glandular stomach area which in rodents is demarcated from the non-glandular forestomach by the limiting ridge (margo plicatus); the glandular stomach is connected to the small intestine (duodenum); the wall of the g
HP:0001663Ventricular fibrillationMP:0013578abnormal stomach glandular region morphologyany structural anomaly of the distinct glandular stomach area which in rodents is demarcated from the non-glandular forestomach by the limiting ridge (margo plicatus); the glandular stomach is connected to the small intestine (duodenum); the wall of the g
Disease ID 43
Disease brugada syndrome
Case(Waiting for update.)