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GENE - TERM ANNOTATION REPORT

RGD ID: 2375
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Col2a1
Name: collagen type II alpha 1 chain
Acc ID: DOID:9006763
Term: Stickler Syndrome, Type I, Nonsyndromic Ocular
Definition: null
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 ISOCOL2A1 (Homo sapiens)7240710OMIM  
Col2a1 ISOCOL2A1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Col2a1 ISOCOL2A1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: STICKLER SYNDROME, ATYPICAL | ClinVar Annotator: match by term: Stickler syndrome, type I, nonsyndromic ocularPMID:11007540 PMID:11410667 PMID:15316962 PMID:15671297 PMID:15895462 PMID:16752401 PMID:17078022 PMID:17347327 PMID:17721977 PMID:18272325 PMID:18276201 PMID:19344236 PMID:20179744 PMID:20301479 PMID:20513134 PMID:22496037 PMID:22522174 PMID:22574936 PMID:22791362 PMID:25060605 PMID:25504618 PMID:25592122 PMID:25604898 PMID:25741868 PMID:25741869 PMID:26037341 PMID:26358419 PMID:26443184 PMID:26467025 PMID:26747767 PMID:27234559 PMID:27390512 PMID:27408751 PMID:28492532 PMID:29453956 PMID:30181686 PMID:7695699 PMID:7849719 PMID:7977371 PMID:8218237 PMID:8317498 PMID:8702139 PMID:8723097 PMID:8893763 PMID:9016532
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