ONTOLOGY REPORT - ANNOTATIONS


Term:Brugada syndrome 4
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Accession:DOID:0110221 term browser browse the term
Definition:A Brugada syndrome that has material basis in heterozygous mutation in the gene encoding the beta-2 subunit of the voltage-dependent L-type calcium channel (CACNB2) on chromosome 10p12. (DO)
Synonyms:exact_synonym: BRGDA4
 primary_id: MESH:C567508
 alt_id: OMIM:611876;   RDO:0015568
 xref: GARD:10362
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Brugada syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 JBrowse link 17 81,673,862 82,019,219 RGD:7240710
RGD:8554872
G Nsun6 NOP2/Sun RNA methyltransferase 6 JBrowse link 17 82,020,316 82,060,533 RGD:8554872

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Path 1
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  disease 14920
    syndrome 4714
      Brugada syndrome 51
        Brugada syndrome 4 2
Path 2
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  disease 14920
    disease of anatomical entity 14086
      cardiovascular system disease 4065
        heart disease 2230
          heart conduction disease 264
            Brugada syndrome 51
              Brugada syndrome 4 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.