Statements (21)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:protein
gptkb:gene |
gptkbp:alternativeName |
IQCB1
|
gptkbp:associatedWith |
gptkb:Senior-Loken_syndrome
nephronophthisis |
gptkbp:encodes |
nephrocystin-5
|
gptkbp:Entrez_Gene_ID |
9657
|
gptkbp:expressedIn |
gptkb:kidney
retina |
gptkbp:gene |
gptkb:NPHP5
|
https://www.w3.org/2000/01/rdf-schema#label |
NPHP5
|
gptkbp:interactsWith |
gptkb:NPHP6
NPHP1 |
gptkbp:locatedOnChromosome |
gptkb:chromosome_3
|
gptkbp:mutationAssociatedWith |
Senior-Loken syndrome type 5
nephronophthisis type 5 |
gptkbp:OMIM |
609237
|
gptkbp:proteinFamily |
IQ calmodulin-binding motif
|
gptkbp:UniProtID |
Q5T4S7
|
gptkbp:bfsParent |
gptkb:CEP290
|
gptkbp:bfsLayer |
7
|