Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
gptkb:Leber_congenital_amaurosis
retinal degeneration |
| gptkbp:discoveredIn |
2000s
|
| gptkbp:encodes |
gptkb:aryl-hydrocarbon-interacting_protein-like_1
|
| gptkbp:Entrez_Gene_ID |
23774
|
| gptkbp:expressedIn |
retina
|
| gptkbp:function |
photoreceptor development
|
| gptkbp:HGNC_ID |
HGNC:358
|
| https://www.w3.org/2000/01/rdf-schema#label |
AIPL1 gene
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_17
|
| gptkbp:mutationAssociatedWith |
vision loss
|
| gptkbp:OMIM |
604392
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
gptkb:Aipl1
|
| gptkbp:UniProtID |
Q9NZN9
|
| gptkbp:bfsParent |
gptkb:Leber_congenital_amaurosis
|
| gptkbp:bfsLayer |
6
|