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GENE - TERM ANNOTATION REPORT

RGD ID: 1311873
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Orai1
Name: ORAI calcium release-activated calcium modulator 1
Acc ID: DOID:0080089
Term: tubular aggregate myopathy 1
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)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133946/ "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Orai1 ISOORAI1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, tubular aggregate, 1PMID:28492532
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