Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

RGD ID: 2378
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Comp
Name: cartilage oligomeric matrix protein
Acc ID: DOID:2256
Term: osteochondrodysplasia
Definition: A bone development disease that results_in defective development of cartilage or bone. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Osteochondrodysplasia "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 ISOCOMP (Homo sapiens)1600702RGDpseudoachondroplasia, OMIM:177170, D472Y, C468Y, 1400-1402delTCA  
Comp ISOCOMP (Homo sapiens)1600705RGDmultiple epiphyseal dysplasia EDM1, OMIM:132400,D342Y 
Comp ISOCOMP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple epiphyseal dysplasiaPMID:11565064 PMID:12483304 PMID:14684695 PMID:15756302 PMID:17570134 PMID:21834907 PMID:21922596 PMID:21965141 PMID:23956175 PMID:24595329 PMID:25741868 PMID:28051032 PMID:28492532 PMID:32686688 PMID:9021009 PMID:9463320
Go Back to source page   Continue to Ontology report