Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:multiple_epiphyseal_dysplasia
|
| gptkbp:encodes |
gptkb:collagen_alpha-1(IX)_chain
|
| gptkbp:Entrez_Gene_ID |
1297
ENSG00000196532 |
| gptkbp:expressedIn |
collagen
|
| gptkbp:function |
structural component of cartilage
|
| gptkbp:HGNC_ID |
HGNC:2202
|
| https://www.w3.org/2000/01/rdf-schema#label |
COL9A1 gene
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_6
|
| gptkbp:mutationAssociatedWith |
gptkb:Stickler_syndrome
|
| gptkbp:OMIM |
120210
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:proteinFamily |
collagen family
|
| gptkbp:UniProtID |
gptkb:P20849
|
| gptkbp:bfsParent |
gptkb:Stickler_syndrome
gptkb:Fairbanks_disease gptkb:Fairbank_disease |
| gptkbp:bfsLayer |
7
|