Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.140 CausalMutation CLINVAR A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data. 28832562

2017
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.140 CausalMutation CLINVAR Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 28041643

2017
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.140 CausalMutation CLINVAR Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases. 26274329

2015
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.140 CausalMutation CLINVAR Gene mutation analysis in Iranian children with nephronophthisis: a two-center study. 25851290

2015
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.140 CausalMutation CLINVAR Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy. 24625443

2014
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.140 CausalMutation CLINVAR Clinical features and mutation of NPHP5 in two Chinese siblings with Senior-Løken syndrome. 24674142

2013
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.140 CausalMutation CLINVAR Pathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesis. 23446637

2013
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.140 CausalMutation CLINVAR High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing. 23188109

2012
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.140 CausalMutation CLINVAR IQCB1 mutations in patients with leber congenital amaurosis. 20881296

2011
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.140 CausalMutation CLINVAR Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. 21866095

2011
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.140 CausalMutation CLINVAR A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. 19430481

2009
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.140 CausalMutation CLINVAR Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. 15723066

2005