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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
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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 Scn10a sodium voltage-gated channel alpha subunit 10 JBrowse link 8 128,298,593 128,416,896 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
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  disease 16022
    syndrome 6143
      Brugada syndrome 65
        Brugada syndrome 1 7
Path 2
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  disease 16022
    Developmental Diseases 9336
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8164
        genetic disease 7688
          monogenic disease 5446
            autosomal genetic disease 4409
              autosomal dominant disease 2753
                Brugada syndrome 1 7
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.