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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Brugada syndrome 8
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Accession:DOID:0110225 term browser browse the term
Definition:A Brugada syndrome that has_material_basis_in heterozygous mutation in the HCN4 gene on chromosome 15q24. (DO)
Synonyms:exact_synonym: BRGDA8
 primary_id: MESH:C567732
 alt_id: OMIM:613123;   RDO:0015720
For additional species annotation, visit the Alliance of Genome Resources.


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Brugada syndrome 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adpgk ADP-dependent glucokinase ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:64,088,871...64,116,832
Ensembl chr 8:64,088,913...64,116,832
JBrowse link
G Arih1 ariadne RBR E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:64,166,359...64,268,555
Ensembl chr 8:64,166,360...64,268,555
JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:64,115,005...64,154,432
Ensembl chr 8:64,121,392...64,154,396
JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISO ClinVar Annotator: match by term: Brugada syndrome 8 OMIM
ClinVar
PMID:12750403, PMID:17646576, PMID:19165230, PMID:20693575, PMID:21615589, PMID:22840528, PMID:23178648, PMID:23623143, PMID:23861362, PMID:24033266, PMID:24569893, PMID:24607718, PMID:25145517, PMID:25145518, PMID:25145519, PMID:25467552, PMID:25642760, PMID:25741868, PMID:26206080, PMID:26467025, PMID:26688388, PMID:27173043, PMID:27182706, PMID:27659478, PMID:27930701, PMID:28086167, PMID:28104484, PMID:28182231, PMID:28254188, PMID:28254189, PMID:28255936, PMID:28341588, PMID:28492532, PMID:28855170, PMID:29247119, PMID:30196304, PMID:30578647 NCBI chr 8:63,599,907...63,637,327
Ensembl chr 8:63,600,663...63,639,654
JBrowse link
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:64,325,435...64,350,775
Ensembl chr 8:64,325,435...64,350,773
JBrowse link
G Neo1 neogenin 1 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:63,649,871...63,756,394
Ensembl chr 8:63,653,266...63,750,531
JBrowse link
G Tmem202 transmembrane protein 202 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:64,299,646...64,305,330
Ensembl chr 8:64,299,646...64,305,330
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      Brugada syndrome 66
        Brugada syndrome 8 7
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            Brugada syndrome 66
              Brugada syndrome 8 7
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.