IQCB1, IQ motif containing B1, 9657

N. diseases: 69; N. variants: 24
Disease: Leber Congenital Amaurosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.680 Biomarker disease BEFREE To use supervised machine learning to predict visual function from retinal structure in retinitis pigmentosa (RP) and apply these estimates to CEP290- and NPHP5-associated Leber congenital amaurosis (LCA) to determine the potential for functional improvement. 31212307 2019
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.680 Biomarker disease BEFREE Here we show that CNNM4 interacts with IQCB1, which causes Leber congenital amaurosis (LCA) when mutated. 29322253 2018
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.680 GeneticVariation disease BEFREE Case-1 additionally had developmental delay, hemi-hyperplasia, toe syndactyly, and kidney cysts.ConclusionIQCB1-related syndromic or non-syndromic Leber congenital amaurosis (LCA) carries unique retinal characteristics which helps differentiate IQCB1-retinopathy from other genetic forms of LCA in childhood. 29219953 2018
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.680 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
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.680 GeneticVariation disease BEFREE Null mutations in the human IQCB1/NPHP5 (nephrocystin-5) gene that encodes NPHP5 are the most frequent cause of Senior-Løken syndrome, a ciliopathy that is characterized by Leber congenital amaurosis and nephronophthisis. 27328943 2016
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.680 GeneticVariation disease BEFREE Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation. 27506978 2016
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.680 GermlineCausalMutation disease ORPHANET IQCB1 mutations in patients with leber congenital amaurosis. 20881296 2011
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.680 CausalMutation disease CLINVAR Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome. 21220633 2011
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.680 GeneticVariation disease BEFREE Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome. 21220633 2011
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.680 GeneticVariation disease BEFREE IQCB1 mutations in patients with leber congenital amaurosis. 20881296 2011
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.680 GermlineCausalMutation disease ORPHANET Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis. 21901789 2011
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.680 CausalMutation disease CLINVAR Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. 15723066 2005
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.680 Biomarker disease GENOMICS_ENGLAND
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.680 GeneticVariation disease CLINVAR