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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 1CC
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Accession:DOID:0110424 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation in the NEXN gene on chromosome 1p31.1. (DO)
Synonyms:exact_synonym: CMD1CC
 primary_id: MESH:C567733
 alt_id: OMIM:613122;   RDO:0015721
For additional species annotation, visit the Alliance of Genome Resources.


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dilated cardiomyopathy 1CC term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nexn nexilin (F actin binding protein) ISO ClinVar Annotator: match by OMIM:613122
ClinVar Annotator: match by term: Dilated cardiomyopathy 1CC
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:19881492 PMID:20970104 PMID:24033266 More... NCBI chr 2:241,186,783...241,218,315
Ensembl chr 2:241,186,790...241,218,342
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      cardiovascular system disease 4514
        heart disease 2691
          Cardiomegaly 674
            dilated cardiomyopathy 300
              dilated cardiomyopathy 1CC 1
Path 2
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        genetic disease 8960
          monogenic disease 7128
            autosomal genetic disease 6276
              autosomal dominant disease 4460
                dilated cardiomyopathy 1CC 1
paths to the root