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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


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tubular aggregate myopathy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: MYOTUBULAR MYOPATHY, AUTOSOMAL DOMINANT ClinVar PMID:2734399 PMID:16227997 PMID:17008356 PMID:17825552 PMID:18414213 More... NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157 		JBrowse link
G Myf6 myogenic factor 6 ISO ClinVar Annotator: match by term: MYOTUBULAR MYOPATHY, AUTOSOMAL DOMINANT ClinVar PMID:11053684 PMID:25741868 PMID:28492532 NCBI chr 7:42,813,008...42,814,852
Ensembl chr 7:42,812,792...42,814,852 		JBrowse link
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
ISS		 ClinVar Annotator: match by term: Myopathy, tubular aggregate, 1
OMIM:160565		 OMIM
ClinVar
MouseDO		 PMID:12623447 PMID:12745453 PMID:12944247 PMID:12944248 PMID:19420366 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 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal dominant disease 6311
                tubular aggregate myopathy 1 4
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        peripheral nervous system disease 4124
          neuropathy 3907
            neuromuscular disease 3059
              muscular disease 2148
                muscle tissue disease 1294
                  myopathy 1008
                    Tubular Aggregate Myopathies 4
                      tubular aggregate myopathy 1 4
paths to the root