Statements (20)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:protein
|
gptkbp:alsoKnownAs |
gptkb:CEP290
gptkb:nephrocystin-6 |
gptkbp:associatedWith |
gptkb:Leber_congenital_amaurosis
gptkb:Joubert_syndrome gptkb:Meckel_syndrome gptkb:Senior-Loken_syndrome |
gptkbp:encodedBy |
gptkb:CEP290_gene
|
gptkbp:foundIn |
gptkb:Homo_sapiens
|
gptkbp:function |
centrosome function
ciliogenesis |
https://www.w3.org/2000/01/rdf-schema#label |
NPHP6
|
gptkbp:location |
centrosome
cilium |
gptkbp:mutationAssociatedWith |
ciliopathies
|
gptkbp:OMIM |
610142
|
gptkbp:UniProtID |
O15078
|
gptkbp:bfsParent |
gptkb:CEP290
gptkb:CEP290_gene |
gptkbp:bfsLayer |
7
|