Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
collagen type XI alpha 2 chain
|
| gptkbp:associatedWith |
gptkb:Otospondylomegaepiphyseal_dysplasia
Stickler syndrome type III non-syndromic hearing loss |
| gptkbp:discoveredIn |
gptkb:human
|
| gptkbp:encodes |
collagen alpha-2(XI) chain
|
| gptkbp:Entrez_Gene_ID |
1302
ENSG00000160789 |
| gptkbp:expressedIn |
collagen
inner ear |
| gptkbp:function |
collagen fibril organization
|
| gptkbp:HGNC_ID |
HGNC:2202
|
| https://www.w3.org/2000/01/rdf-schema#label |
COL11A2 gene
|
| gptkbp:locatedOnChromosome |
gptkb:6p21.3
|
| gptkbp:mutationAssociatedWith |
skeletal dysplasia
|
| gptkbp:OMIM |
120290
|
| gptkbp:orthologInMouse |
Col11a2
|
| gptkbp:proteinFamily |
collagen family
|
| gptkbp:UniProtID |
P13942
|
| gptkbp:bfsParent |
gptkb:Stickler_syndrome
|
| gptkbp:bfsLayer |
7
|