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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 1
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Accession:DOID:0110218 term browser browse the term
Definition:A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN5A gene on chromosome 3p22. (DO)
Synonyms:exact_synonym: BRGDA1;   right bundle branch block, St segment elevation, and sudden death syndrome
 primary_id: OMIM:601144


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Brugada syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606 		JBrowse link
G Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 ISO ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome ClinVar PMID:20817017 PMID:25527503 PMID:25741868 PMID:28492532 NCBI chr 4:18,950,611...19,374,969
Ensembl chr 4:18,951,002...19,374,969 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome ClinVar PMID:19012347 PMID:19159394 PMID:25741868 PMID:27611364 PMID:28973303 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Kcna5 potassium voltage-gated channel subfamily A member 5 ISO ClinVar Annotator: match by term: Brugada syndrome 1 ClinVar PMID:15735608 PMID:16411137 PMID:21306642 PMID:23264583 PMID:23861362 More... NCBI chr 4:159,354,689...159,358,173
Ensembl chr 4:159,350,097...159,357,697 		JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome ClinVar PMID:19716085 PMID:22581653 PMID:23861362 PMID:25417810 PMID:25637381 More... NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008 		JBrowse link
G Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 ISO ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome ClinVar PMID:25741868 NCBI chr 4:175,508,908...175,515,829
Ensembl chr 4:175,508,912...175,515,603 		JBrowse link
G Scn10a sodium voltage-gated channel alpha subunit 10 ISO ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome ClinVar PMID:24998131 PMID:25053638 PMID:25085921 PMID:25650408 PMID:25691538 More... NCBI chr 8:119,350,723...119,462,882
Ensembl chr 8:119,350,724...119,462,614 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISS
ISO		 OMIM:601144
ClinVar Annotator: match by term: Brugada syndrome 1 | ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome		 MouseDO
ClinVar
OMIM		 PMID:235469 PMID:256650 PMID:291807 PMID:461398 PMID:545017 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      Brugada syndrome 125
        Brugada syndrome 1 8
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal dominant disease 6235
                Brugada syndrome 1 8
paths to the root