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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:0080676
Term: Stickler syndrome 1
Definition: A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/21671392/ "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 ISOCol2a1 (Mus musculus)8657341RGD  
Col2a1 ISOCOL2A1 (Homo sapiens)8657340RGDDNA:nonsense mutation:exon:p.C86X (human) 
Col2a1 ISOCOL2A1 (Homo sapiens)8657343RGDDNA:mutations:multiple (human) 
Col2a1 ISOCOL2A1 (Homo sapiens)8657352RGDDNA:deletion:exons: (human) 
Col2a1 ISOCOL2A1 (Homo sapiens)8657393RGDDNA:deletion:exon:g.33524_33526delC (human) 
Col2a1 ISOCOL2A1 (Homo sapiens)8657401RGDDNA:snp:intron:IVS17-2A>G (human) 
Col2a1 ISOCOL2A1 (Homo sapiens)8657405RGDDNA:missense mutation:exon:p.R704C (human) 
Col2a1 ISOCOL2A1 (Homo sapiens)11667954RGDDNA:insertion:exon:c.2012_2013insC(human) 
Col2a1 ISOCOL2A1 (Homo sapiens)12436723RGDDNA:frame shift, missense, nonsense mutations:exons,splicing sites: 
Col2a1 ISOCOL2A1 (Homo sapiens)13524555RGDDNA:nonsense mutation:exon:p.R732X (human) 
Col2a1 ISOCOL2A1 (Homo sapiens)7240710OMIM  
Col2a1 ISOCOL2A1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Col2a1 ISOCOL2A1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Arthroophthalmopathy, hereditary progressive | ClinVar Annotator: match by term: Stickler syndrome type 1PMID:10353778 PMID:10486316 PMID:10706362 PMID:10729292 PMID:10982970 PMID:11007540 PMID:12544472 PMID:12939326 PMID:14299791 PMID:1444917 PMID:15671297 PMID:15895462 PMID:16189708 PMID:16199547 PMID:16752401 PMID:16755660 PMID:1677770 PMID:17078022 PMID:17347327 PMID:17576681 PMID:17638425 PMID:17721977 PMID:17726487 PMID:18272325 PMID:18276201 PMID:18553548 PMID:1905723 PMID:19344236 PMID:19764028 PMID:20131279 PMID:20179744 PMID:20301479 PMID:20513134 PMID:22496037 PMID:22522174 PMID:22574936 PMID:22791362 PMID:23022073 PMID:24664531 PMID:25046119 PMID:25504618 PMID:25592122 PMID:25604898 PMID:25741868 PMID:25741869 PMID:25809783 PMID:25967556 PMID:26037341 PMID:26377240 PMID:26420734 PMID:26443184 PMID:26467025 PMID:26626311 PMID:26709265 PMID:26747767 PMID:27183340 PMID:27193475 PMID:27234559 PMID:27390512 PMID:27408751 PMID:28018693 PMID:2803268 PMID:28492532 PMID:28559085 PMID:28983407 PMID:29095814 PMID:29453956 PMID:30138938 PMID:30181686 PMID:30311386 PMID:30792901 PMID:31021589 PMID:31299979 PMID:31625567 PMID:31736238 PMID:31781920 PMID:31872526 PMID:32071555 PMID:32510848 PMID:32756486 PMID:33249554 PMID:33726816 PMID:34008892 PMID:34169787 PMID:34394176 PMID:34529350 PMID:34680973 PMID:35052477 PMID:36400164 PMID:36901693 PMID:7487609 PMID:7695699 PMID:7741714 PMID:7849719 PMID:7977371 PMID:8024616 PMID:8218237 PMID:8244341 PMID:8406454 PMID:8423604 PMID:8434604 PMID:8702139 PMID:8737653 PMID:8893763 PMID:9016532 PMID:9536098 PMID:9800905
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