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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 chrNW_004936471:32,025,310...32,052,558 JBrowse link
G Arih1 ariadne RBR E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chrNW_004936471:31,822,592...31,947,624 JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chrNW_004936471:31,962,500...32,019,516 JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 ISO OMIM NCBI chrNW_004936471:32,527,551...32,570,548 JBrowse link
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chrNW_004936471:31,712,485...31,738,273 JBrowse link
G Neo1 neogenin 1 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chrNW_004936471:32,345,578...32,517,245 JBrowse link
G Tmem202 transmembrane protein 202 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chrNW_004936471:31,756,435...31,762,242 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11938
    syndrome 5829
      Brugada syndrome 60
        Brugada syndrome 8 7
Path 2
Term Annotations click to browse term
  disease 11938
    Developmental Diseases 8506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7484
        genetic disease 7027
          monogenic disease 5177
            Brugada syndrome 60
              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.