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GENE - TERM ANNOTATION REPORT

RGD ID: 18559904
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: COL5A1
Name: collagen type V alpha 1 chain
Acc ID: DOID:65
Term: connective tissue disease
Definition: A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage. (DO)
Definition Source(s): http://www.niams.nih.gov/Health_Info/Scleroderma/default.asp "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)
COL5A1 ISOCOL5A1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorderPMID:10602121 PMID:10946364 PMID:11992482 PMID:15580559 PMID:17576681 PMID:19370768 PMID:20635400 PMID:20979576 PMID:22696272 PMID:24033266 PMID:25741868 PMID:27975164 PMID:28074886 PMID:28492532 PMID:28550590 PMID:29924831 PMID:30858776 PMID:31903434 PMID:33726816 PMID:33914963 PMID:34422331 PMID:36411388 PMID:9536098
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