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GENE - TERM ANNOTATION REPORT

RGD ID: 2373
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Col11a2
Name: collagen type XI alpha 2 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)
Col11a2 ISOCOL11A2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Stickler Syndrome, DominantPMID:15922184 PMID:22938506 PMID:23967202 PMID:24033266 PMID:25240749 PMID:25633957 PMID:25741868 PMID:26467025 PMID:26691295 PMID:27068579 PMID:28492532 PMID:29907799 PMID:35903967 PMID:36597107 PMID:37880672
Col11a2 ISSCOL11A2 (Homo sapiens)13592920MouseDOOMIM:108300 | OMIM:184840 | OMIM:604841 
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