Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:thrombospondin-5
|
| gptkbp:associatedWith |
gptkb:pseudoachondroplasia
gptkb:multiple_epiphyseal_dysplasia |
| gptkbp:discoveredIn |
1992
|
| gptkbp:encodes |
gptkb:cartilage_oligomeric_matrix_protein
|
| gptkbp:Entrez_Gene_ID |
1311
|
| gptkbp:expressedIn |
collagen
|
| gptkbp:function |
structural component of cartilage extracellular matrix
|
| gptkbp:HGNC_ID |
2227
|
| https://www.w3.org/2000/01/rdf-schema#label |
COMP gene
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_19
|
| gptkbp:mutationAssociatedWith |
skeletal dysplasia
|
| gptkbp:OMIM |
600310
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologIn |
gptkb:mouse
right |
| gptkbp:product |
gptkb:COMP_protein
|
| gptkbp:UniProtID |
P49747
|
| gptkbp:bfsParent |
gptkb:Fairbanks_disease
gptkb:Fairbank_disease |
| gptkbp:bfsLayer |
7
|