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GENE - TERM ANNOTATION REPORT

RGD ID: 62109
Species: Mus musculus
RGD Object: Gene
Symbol: Col1a1
Name: collagen, type I, alpha 1
Acc ID: DOID:0080010
Term: bone structure disease
Definition: A bone disease that has_material_basis_in an abnormality in the location or function of the skeletal structure. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Human_skeleton "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)
Col1a1 ISOCOL1A1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Abnormal bone structure | ClinVar Annotator: match by term: Abnormality of bone mineral densityPMID:25741868
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