Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
gptkb:Leber_congenital_amaurosis
retinitis pigmentosa |
| gptkbp:encodes |
gptkb:tubby-like_protein_1
|
| gptkbp:Entrez_Gene_ID |
7287
ENSG00000103415 |
| gptkbp:expressedIn |
retina
|
| gptkbp:function |
photoreceptor cell maintenance
|
| gptkbp:HGNC_ID |
HGNC:12410
|
| https://www.w3.org/2000/01/rdf-schema#label |
TULP1 gene
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_6
|
| gptkbp:mutationAssociatedWith |
vision loss
|
| gptkbp:OMIM |
602280
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
gptkb:Tulp1
|
| gptkbp:UniProtID |
Q9GZN2
|
| gptkbp:bfsParent |
gptkb:Leber_congenital_amaurosis
|
| gptkbp:bfsLayer |
6
|