Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
gptkb:Leber_congenital_amaurosis
gptkb:cone-rod_dystrophy retinitis pigmentosa |
| gptkbp:discoveredBy |
Shiming Chen et al.
|
| gptkbp:domain |
homeobox domain
|
| gptkbp:encodes |
gptkb:CRX_protein
|
| gptkbp:Entrez_Gene_ID |
1406
|
| gptkbp:expressedIn |
retina
|
| gptkbp:fullName |
cone-rod homeobox
|
| gptkbp:function |
transcription factor
|
| gptkbp:HGNC_ID |
HGNC:2385
|
| https://www.w3.org/2000/01/rdf-schema#label |
Crx
|
| gptkbp:involvedIn |
photoreceptor cell development
|
| gptkbp:locatedOn |
gptkb:chromosome_19
|
| gptkbp:mutationAssociatedWith |
visual impairment
|
| gptkbp:OMIM |
602225
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologIn |
Mus musculus (mouse)
|
| gptkbp:regulates |
phototransduction genes
|
| gptkbp:UniProtID |
O43186
|
| gptkbp:bfsParent |
gptkb:CRX_gene
|
| gptkbp:bfsLayer |
7
|