Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:collagen_type_IX_alpha_2_chain
|
| gptkbp:associatedWith |
gptkb:COL9A2_protein
gptkb:multiple_epiphyseal_dysplasia |
| gptkbp:encodes |
gptkb:collagen_alpha-2(IX)_chain
|
| gptkbp:Entrez_Gene_ID |
1298
|
| gptkbp:expressedIn |
cartilage tissue
|
| gptkbp:function |
structural component of cartilage
|
| gptkbp:HGNC_ID |
2212
|
| https://www.w3.org/2000/01/rdf-schema#label |
COL9A2 gene
|
| gptkbp:locatedOnChromosome |
gptkb:1p34.2
|
| gptkbp:mutationAssociatedWith |
skeletal dysplasia
|
| gptkbp:OMIM |
120260
|
| gptkbp:orthologInMouse |
gptkb:Col9a2
|
| gptkbp:species |
gptkb:Homo_sapiens
|
| gptkbp:UniProtID |
P22860
|
| gptkbp:bfsParent |
gptkb:Stickler_syndrome
gptkb:Fairbanks_disease gptkb:Fairbank_disease |
| gptkbp:bfsLayer |
7
|