Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:Brugada syndrome 3
go back to main search page
Accession:DOID:0110220 term browser browse the term
Definition:A Brugada syndrome that has material basis in heterozygous mutation in the gene encoding the alpha-1C subunit of the L-type voltage-dependent calcium channel (CACNA1C) on chromosome 12p13. (DO)
Synonyms:exact_synonym: BRGDA3
 primary_id: MESH:C567509
 alt_id: OMIM:611875;   RDO:0015569
 xref: GARD:10361
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
Brugada syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1c calcium voltage-gated channel subunit alpha1 C JBrowse link 4 150,635,808 151,270,790 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    syndrome 5131
      Brugada syndrome 51
        Brugada syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 15590
    Developmental Diseases 8723
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7503
        genetic disease 6993
          monogenic disease 4551
            Brugada syndrome 51
              Brugada syndrome 3 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.