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GENE - TERM ANNOTATION REPORT

RGD ID: 1344163
Species: Homo sapiens
RGD Object: Gene
Symbol: NR1I3
Name: nuclear receptor subfamily 1 group I member 3
Acc ID: DOID:0081242
Term: autoimmune interstitial lung, joint, and kidney disease
Definition: A syndrome that is characterized by interstitial lung disease, inflammatory arthritis, and immune complex-mediated renal disease and that has_material_basis_in heterozygous mutation in the COPA gene on chromosome 1q23. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/25894502/ "DO" "DO", https://rarediseases.org/rare-diseases/copa-syndrome/ "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)
NR1I3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndromePMID:28492532
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