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
Accession: DOID:0110225
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
G
Adpgk
ADP-dependent glucokinase
ISO
ClinVar Annotator: match by term: Brugada syndrome 8
ClinVar
PMID:28492532
NCBI chr 8:59,699,400...59,727,352
Ensembl chr 8:59,699,388...59,727,351
G
Arih1
ariadne RBR E3 ubiquitin protein ligase 1
ISO
ClinVar Annotator: match by term: Brugada syndrome 8
ClinVar
PMID:28492532
NCBI chr 8:59,777,378...59,879,762
Ensembl chr 8:59,777,379...59,880,245
G
Bbs4
Bardet-Biedl syndrome 4
ISO
ClinVar Annotator: match by term: Brugada syndrome 8
ClinVar
PMID:28492532
NCBI chr 8:59,731,912...59,765,408
Ensembl chr 8:59,731,912...59,765,607
G
Hcn4
hyperpolarization activated cyclic nucleotide-gated potassium channel 4
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Brugada syndrome 8
CTD ClinVar OMIM
PMID:9536098 PMID:12750403 PMID:15123648 PMID:16199547 PMID:17576681 PMID:17646576 PMID:19165230 PMID:19748888 PMID:20662977 PMID:20693575 PMID:21615589 PMID:22840528 PMID:23075627 PMID:23178648 PMID:23623143 PMID:23631727 PMID:23861362 PMID:24033266 PMID:24492017 PMID:24569893 PMID:24607718 PMID:25145517 PMID:25145518 PMID:25145519 PMID:25467552 PMID:25642760 PMID:25741868 PMID:25865493 PMID:26206080 PMID:26383259 PMID:26467025 PMID:26688388 PMID:26704558 PMID:27173043 PMID:27182706 PMID:27439367 PMID:27553229 PMID:27659478 PMID:27930701 PMID:28086167 PMID:28104484 PMID:28182231 PMID:28204831 PMID:28254188 PMID:28254189 PMID:28255936 PMID:28341588 PMID:28350118 PMID:28492532 PMID:28750076 PMID:28803248 PMID:28807990 PMID:28855170 PMID:29032884 PMID:29247119 PMID:29255176 PMID:29349559 PMID:29447731 PMID:30127718 PMID:30196304 PMID:30391667 PMID:30452770 PMID:30471092 PMID:30578647 PMID:30662450 PMID:30821013 PMID:30847666 PMID:30975432 PMID:30986657 PMID:31043699 PMID:31731876 PMID:31737537 PMID:32508047 PMID:32577394 PMID:32600061 PMID:32659924 PMID:32746448 PMID:33008772 PMID:33082984 PMID:33500567 PMID:33587123 PMID:34088380 PMID:34540771 PMID:36244448 More...
NCBI chr 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639
G
Hexa
hexosaminidase subunit alpha
ISO
ClinVar Annotator: match by term: Brugada syndrome 8
ClinVar
PMID:28492532
NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013
G
Neo1
neogenin 1
ISO
ClinVar Annotator: match by term: Brugada syndrome 8
ClinVar
PMID:28492532
NCBI chr 8:59,273,860...59,426,486
Ensembl chr 8:59,275,569...59,430,348
G
Tmem202
transmembrane protein 202
ISO
ClinVar Annotator: match by term: Brugada syndrome 8
ClinVar
PMID:28492532
NCBI chr 8:59,910,824...59,919,342
Ensembl chr 8:59,910,824...59,916,609
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all