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