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GENE - TERM ANNOTATION REPORT

RGD ID: 734037
Species: Homo sapiens
RGD Object: Gene
Symbol: COL2A1
Name: collagen type II alpha 1 chain
Acc ID: DOID:0080046
Term: Stickler syndrome
Definition: A syndrome that is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/Stickler_syndrome "DO" "DO", https://ghr.nlm.nih.gov/condition/stickler-syndrome "DO" "DO", https://www.ncbi.nlm.nih.gov/books/NBK1302/ "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 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Stickler Syndrome, DominantPMID:28492532
COL2A1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Stickler Syndrome, Dominant | ClinVar Annotator: match by term: Stickler syndrome 
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Stickler syndromePMID:25741868 PMID:26443184 PMID:28492532 PMID:30311386
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Stickler syndromePMID:24033266
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