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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:0080045
Term: Kniest dysplasia
Definition: An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face. (DO)
Definition Source(s): http://ghr.nlm.nih.gov/condition/kniest-dysplasia "DO" "DO", http://www.ksginfo.org/kniest.html "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/mechanismPMID:11297324
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Kniest dysplasiaPMID:25504618 PMID:25741868 PMID:26467025 PMID:28492532
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Kniest dysplasiaPMID:25741868 PMID:26467025 PMID:28492532
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Kniest dysplasiaPMID:18272325 PMID:25741868 PMID:28492532
COL2A1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Kniest dysplasiaPMID: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)8554872ClinVarClinVar Annotator: match by term: Kniest dysplasiaPMID:25741868
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Kniest dysplasiaPMID: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: Kniest dysplasia 
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Kniest dysplasiaPMID:23188137
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Kniest dysplasiaPMID:17576681 PMID:25741868 PMID:28492532 PMID:30408610 PMID:9536098
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Kniest dysplasiaPMID:25741868 PMID:7700721
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Kniest dysplasiaPMID:17078022 PMID:19344236 PMID:25741868 PMID:28492532 PMID:29620724 PMID:29758562 PMID:7695699 PMID:8218237 PMID:9016532
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Kniest dysplasiaPMID:10406661 PMID:25741868 PMID:4014370 PMID:4214536 PMID:7981752
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Kniest dysplasiaPMID:17078022 PMID:19344236 PMID:22791362 PMID:28492532 PMID:7695699 PMID:7849719 PMID:8218237 PMID:9016532
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Kniest dysplasiaPMID:12995812 PMID:9066888
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Kniest dysplasiaPMID:9468540
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Kniest dysplasiaPMID:17078022 PMID:19344236 PMID:28492532 PMID:7695699 PMID:7874117 PMID:8218237 PMID:9016532
COL2A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Kniest dysplasiaPMID:18276201 PMID:25741868 PMID:26467025 PMID:28492532
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