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GENE - TERM ANNOTATION REPORT

RGD ID: 61817
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Col1a1
Name: collagen type I alpha 1 chain
Acc ID: DOID:10126
Term: keratoconus
Definition: A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Keratoconus "DO" "DO", http://ghr.nlm.nih.gov/glossary=keratoconus "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: KeratoconusPMID:21667357 PMID:25741868 PMID:27519266 PMID:28492532 PMID:30715774
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