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 8
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
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:9536098 PMID:12750403 PMID:17576681 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:28166811 PMID:28182231 PMID:28254188 PMID:28254189 PMID:28255936 PMID:28341588 PMID:28492532 PMID:28855170 PMID:29247119 PMID:30196304 PMID:30578647 PMID:30847666 PMID:30975432 PMID:30986657 PMID:31737537 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 17129
    syndrome 8018
      Brugada syndrome 67
        Brugada syndrome 8 7
Path 2
Term Annotations click to browse term
  disease 17129
    Developmental Disease 10897
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9431
        genetic disease 8941
          monogenic disease 7121
            Brugada syndrome 67
              Brugada syndrome 8 7
paths to the root