Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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 9
go back to main search page
Accession:DOID:0110226 term browser browse the term
Definition:A Brugada syndrome that has_material_basis_in heterozygous mutation in the KCND3 gene on chromosome 1p13. (DO)
Synonyms:exact_synonym: BRGDA9
 primary_id: OMIM:616399
 alt_id: RDO:9001381
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Brugada syndrome 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnd3 potassium voltage-gated channel subfamily D member 3 ISO ClinVar Annotator: match by term: Brugada syndrome 9 OMIM
ClinVar
PMID:21349352 PMID:21640846 PMID:22284586 PMID:22336521 PMID:22457051 More... NCBI chr 2:192,937,950...193,155,345
Ensembl chr 2:192,937,950...193,155,345
JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Brugada syndrome 9 ClinVar PMID:25741868 PMID:28492532 NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Brugada syndrome 67
        Brugada syndrome 9 2
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal dominant disease 4490
                Brugada syndrome 9 2
paths to the root