Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1
0.340 GeneticVariation disease BEFREE Recessive mutations in the human <i>IQCB1/NPHP5</i> gene are associated with Senior-Løken syndrome (SLS), a ciliopathy presenting with nephronophthisis and Leber congenital amaurosis (LCA). 30713422 2018
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1
0.340 Biomarker disease BEFREE Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation. 27328943 2016
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1
0.340 GeneticVariation disease 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
0.340 GeneticVariation disease BEFREE A similarly severe phenotype occurs in the related ciliopathy NPHP5 (IQCB1)-LCA. 21245082 2011
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1
0.340 Biomarker disease GENOMICS_ENGLAND