Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:LCA13
gptkb:SDR7C2 |
| gptkbp:associatedWith |
gptkb:Leber_congenital_amaurosis
retinitis pigmentosa |
| gptkbp:encodes |
gptkb:retinol_dehydrogenase_12
|
| gptkbp:Entrez_Gene_ID |
29106
|
| gptkbp:expressedIn |
retina
|
| gptkbp:function |
oxidoreductase activity
retinol metabolic process |
| gptkbp:HGNC_ID |
HGNC:18265
|
| https://www.w3.org/2000/01/rdf-schema#label |
RDH12 gene
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_14
|
| gptkbp:mutationAssociatedWith |
visual impairment
|
| gptkbp:numberOfExons |
7
|
| gptkbp:OMIM |
608830
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Rdh12
|
| gptkbp:proteinFamily |
gptkb:short-chain_dehydrogenase/reductase_family
|
| gptkbp:strand |
plus
|
| gptkbp:UniProtID |
Q96NR8
|
| gptkbp:bfsParent |
gptkb:Leber_congenital_amaurosis
|
| gptkbp:bfsLayer |
6
|