Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alsoKnownAs |
gptkb:CEP290
|
| gptkbp:associatedWith |
gptkb:Leber_congenital_amaurosis
|
| gptkbp:discoveredIn |
2006
|
| gptkbp:encodes |
gptkb:centrosomal_protein_290kDa
|
| gptkbp:Entrez_Gene_ID |
80184
|
| gptkbp:expressedIn |
retina
|
| gptkbp:function |
centrosome function
ciliogenesis |
| https://www.w3.org/2000/01/rdf-schema#label |
LCA13
|
| gptkbp:locatedOnChromosome |
chromosome 12q21.32
|
| gptkbp:mutationAssociatedWith |
gptkb:Joubert_syndrome
gptkb:Meckel_syndrome gptkb:Senior-Loken_syndrome Leber congenital amaurosis type 13 |
| gptkbp:OMIM |
610142
|
| gptkbp:bfsParent |
gptkb:RDH12_gene
|
| gptkbp:bfsLayer |
7
|