Gene: IQCB1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1 		0.030 Biomarker phenotype BEFREE Testing in additional affected cats confirmed that cats homozygous for a 2 base pair (bp) deletion within IQ calmodulin-binding motif-containing protein-1 (IQCB1), the gene that encodes for nephrocystin-5 (NPHP5), had vision loss. 28322220 2017
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1 		0.030 GeneticVariation phenotype BEFREE Mutations in NPHP5 cause a ciliopathy characterized by severe childhood onset retinal blindness, Leber congenital amaurosis (LCA), and renal disease. 27506978 2016
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1 		0.030 GeneticVariation phenotype BEFREE While the clinical manifestations vary significantly in NPHP, mutations of NPHP5 and NPHP6 are always associated with progressive blindness. 18723859 2008