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ONTOLOGY REPORT - ANNOTATIONS


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
 alt_id: RDO:9002129
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Brugada syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akap9 A-kinase anchoring protein 9 JBrowse link 4 27,195,346 27,331,582 RGD:8554872
G Kcna5 potassium voltage-gated channel subfamily A member 5 JBrowse link 4 159,077,195 159,079,003 RGD:8554872
G Kcnh2 potassium voltage-gated channel subfamily H member 2 JBrowse link 4 7,355,066 7,387,282 RGD:8554872
G Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 JBrowse link 4 176,783,287 176,789,143 RGD:8554872
G Ryr2 ryanodine receptor 2 JBrowse link 17 65,533,998 65,955,606 RGD:8554872
G Scn5a sodium voltage-gated channel alpha subunit 5 JBrowse link 8 128,169,191 128,266,681 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      Brugada syndrome 53
        Brugada syndrome 1 6
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                Brugada syndrome 1 6
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.