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GENE - TERM ANNOTATION REPORT

RGD ID: 735281
Species: Homo sapiens
RGD Object: Gene
Symbol: COL10A1
Name: collagen type X alpha 1 chain
Acc ID: DOID:2256
Term: osteochondrodysplasia
Definition: A bone development disease that results_in defective development of cartilage or bone. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Osteochondrodysplasia "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)
COL10A1susceptibilityIAGP 1600880RGDSchmid metaphyseal chondrodysplasia, OMIM:156500;DNA:deletion mutations, missense mutation: :1856delC, 1992delCT, p.C591R 
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