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GENE - TERM ANNOTATION REPORT

RGD ID: 736605
Species: Homo sapiens
RGD Object: Gene
Symbol: COMP
Name: cartilage oligomeric matrix protein
Acc ID: DOID:12721
Term: multiple epiphyseal dysplasia
Definition: An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. The disease has symptom fatigue, has symptom joint pain. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Multiple_epiphyseal_dysplasia "DO" "DO", http://ghr.nlm.nih.gov/condition/multiple-epiphyseal-dysplasia "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)
COMP IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia 
COMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple epiphyseal dysplasiaPMID:21922596 PMID:25741868 PMID:28492532
COMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple epiphyseal dysplasiaPMID:12483304 PMID:25741868 PMID:28051032 PMID:28492532
COMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple epiphyseal dysplasiaPMID:25741868 PMID:28492532 PMID:9021009
COMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple epiphyseal dysplasiaPMID:12483304 PMID:14684695 PMID:21834907 PMID:21965141 PMID:24595329 PMID:25741868 PMID:28492532 PMID:32686688
COMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple epiphyseal dysplasiaPMID:25741868
COMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple epiphyseal dysplasiaPMID:11565064 PMID:17570134 PMID:23956175 PMID:28492532 PMID:9463320
COMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple epiphyseal dysplasiaPMID:12483304 PMID:14684695 PMID:15756302 PMID:21834907 PMID:21965141 PMID:24595329 PMID:28492532
COMP ISSComp (Mus musculus)13592920MouseDOOMIM:132400 | OMIM:226900 | OMIM:600204 | OMIM:600969 | OMIM:607078 | OMIM:614135 
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