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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:tubular aggregate myopathy 1
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Accession:DOID:0080089 term browser browse the term
Definition:A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the STIM1 gene on chromosome 11p15. (DO)
Synonyms:exact_synonym: TAM1;   autosomal dominant myotubular myopathy
 primary_id: OMIM:160565
For additional species annotation, visit the Alliance of Genome Resources.



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tubular aggregate myopathy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Orai1 ORAI calcium release-activated calcium modulator 1 ISO ClinVar Annotator: match by term: Myopathy, tubular aggregate, 1 ClinVar PMID:28492532 NCBI chr12:33,533,151...33,548,361
Ensembl chr12:33,534,344...33,548,405
JBrowse link
G Stim1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Myopathy with tubular aggregates
ClinVar Annotator: match by term: Myopathy, tubular aggregate, 1
ClinVar
OMIM
PMID:4085141 PMID:12623447 PMID:12745453 PMID:12944247 PMID:12944248 More... NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal dominant disease 4490
                tubular aggregate myopathy 1 2
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        peripheral nervous system disease 2565
          neuropathy 2360
            neuromuscular disease 1879
              muscular disease 1283
                muscle tissue disease 832
                  myopathy 666
                    Tubular Aggregate Myopathies 2
                      tubular aggregate myopathy 1 2
paths to the root