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GENE - TERM ANNOTATION REPORT

RGD ID: 18414204
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: COL2A1
Name: collagen type II alpha 1 chain
Acc ID: DOID:0060930
Term: developmental dysplasia of the hip
Definition: A bone development disease characterized by abnormality of the seating of the femoral head in the acetabulum. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/11246461/ "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)
COL2A1 ISOCOL2A1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Acetabular dysplasiaPMID:16755660 PMID:17726487 PMID:18553548 PMID:19764028 PMID:25741868 PMID:28492532 PMID:32071555 PMID:8244341
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