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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:14415
Term: Legg-Calve-Perthes disease
Definition: An osteochondrosis that results_in death and fracture located_in hip joint. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Legg%E2%80%93Calv%C3%A9%E2%80%93Perthes_syndrome "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 7240710OMIM  
COL2A1 EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Coxa planaPMID:25504618 PMID:25741868 PMID:26467025 PMID:28492532
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Coxa planaPMID:25741868 PMID:26467025 PMID:28492532
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Coxa planaPMID: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: Coxa plana | ClinVar Annotator: match by term: Osteochondritis deformansPMID:25741868 PMID:28492532
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Coxa planaPMID: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: Legg-Calve-Perthes diseasePMID:15930420 PMID:17078022 PMID:17394019 PMID:19344236 PMID:25741868 PMID:25809783 PMID:28492532 PMID:29750297 PMID:7695699 PMID:8218237 PMID:9016532
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Coxa planaPMID:18276201 PMID:25741868 PMID:26467025 PMID:28492532
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