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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:9005817
Term: Czech Dysplasia, Metatarsal Type
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 IAGP 8657344RGDDNA:missense mutation:cds:p.R275C (c.823C>T) (human) 
COL2A1 IAGP 7240710OMIM  
COL2A1 EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: SPONDYLOEPIPHYSEAL DYSPLASIA WITH PRECOCIOUS OSTEOARTHRITISPMID:25504618 PMID:25741868 PMID:26467025 PMID:28492532
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: SPONDYLOEPIPHYSEAL DYSPLASIA WITH PRECOCIOUS OSTEOARTHRITISPMID:25741868 PMID:26467025 PMID:28492532
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: SPONDYLOEPIPHYSEAL DYSPLASIA WITH PRECOCIOUS OSTEOARTHRITISPMID:18272325 PMID:25741868 PMID:28492532
COL2A1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pseudorheumatoid dysplasia progressive, with hypoplastic toes | ClinVar Annotator: match by term: SPONDYLOEPIPHYSEAL DYSPLASIA WITH PRECOCIOUS OSTEOARTHRITISPMID:25741868 PMID:28492532
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: SPONDYLOEPIPHYSEAL DYSPLASIA WITH PRECOCIOUS OSTEOARTHRITISPMID: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)8554872ClinVarClinVar Annotator: match by term: Czech dysplasia, metatarsal typePMID: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: Czech dysplasia, metatarsal typePMID:16755660 PMID:17726487 PMID:18553548 PMID:19764028 PMID:25741868 PMID:28492532 PMID:32071555 PMID:8244341
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: SPONDYLOEPIPHYSEAL DYSPLASIA WITH PRECOCIOUS OSTEOARTHRITISPMID:18276201 PMID:25741868 PMID:26467025 PMID:28492532
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