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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:dilated cardiomyopathy 1GG
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Accession:DOID:0110435 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation in the SDHA gene on chromosome 5p15.33. (DO)
Synonyms:exact_synonym: CMD1GG
 primary_id: OMIM:613642

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dilated cardiomyopathy 1GG term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1GG OMIM
ClinVar		 PMID:1492653 PMID:7550341 PMID:9536098 PMID:10721988 PMID:10746566 More... NCBI chrNW_004624751:54,778...90,457
Ensembl chrNW_004624751:54,779...90,447 		JBrowse link
G G SDHA succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1GG OMIM
ClinVar		 PMID:1492653 PMID:7550341 PMID:9536098 PMID:10721988 PMID:10746566 More... NCBI chr 4:163,726...190,145 JBrowse link
G P SDHA succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1GG OMIM
ClinVar		 PMID:1492653 PMID:7550341 PMID:9536098 PMID:10721988 PMID:10746566 More... NCBI chr16:79,838,442...79,862,956
Ensembl chr16:79,834,044...79,862,524 		JBrowse link
G S Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1GG OMIM
ClinVar		 PMID:1492653 PMID:7550341 PMID:9536098 PMID:10721988 PMID:10746566 More... NCBI chrNW_004936815:1,148,963...1,167,585
Ensembl chrNW_004936815:1,148,963...1,167,568 		JBrowse link
G D SDHA succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1GG OMIM
ClinVar		 PMID:1492653 PMID:7550341 PMID:9536098 PMID:10721988 PMID:10746566 More... NCBI chr34:11,935,684...11,965,094
Ensembl chr34:11,935,941...11,965,189 		JBrowse link
G B SDHA succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1GG OMIM
ClinVar		 PMID:1492653 PMID:7550341 PMID:9536098 PMID:10721988 PMID:10746566 More...
G C Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1GG OMIM
ClinVar		 PMID:1492653 PMID:7550341 PMID:9536098 PMID:10721988 PMID:10746566 More... NCBI chrNW_004955504:36,939...66,507
Ensembl chrNW_004955504:36,911...70,494 		JBrowse link
G R Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1GG OMIM
ClinVar		 PMID:1492653 PMID:7550341 PMID:9536098 PMID:10721988 PMID:10746566 More... NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535 		JBrowse link
G M Sdha succinate dehydrogenase complex, subunit A, flavoprotein (Fp) ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1GG OMIM
ClinVar		 PMID:1492653 PMID:7550341 PMID:9536098 PMID:10721988 PMID:10746566 More... NCBI chr13:74,470,374...74,498,359
Ensembl chr13:74,470,373...74,498,399 		JBrowse link
G H SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1GG OMIM
ClinVar		 PMID:1492653 PMID:7550341 PMID:9536098 PMID:10721988 PMID:10746566 More... NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 175444
    Developmental Disease 147715
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 135781
        genetic disease 131938
          monogenic disease 108575
            dilated cardiomyopathy 1GG 10
Path 2
Term Annotations click to browse term
  disease 175444
    disease of anatomical entity 168431
      cardiovascular system disease 45705
        heart disease 31806
          cardiomyopathy 12594
            intrinsic cardiomyopathy 9062
              dilated cardiomyopathy 4634
                dilated cardiomyopathy 1GG 10
paths to the root