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: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.680 CausalMutation CLINVAR Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome. 21220633

2011
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.680 CausalMutation CLINVAR Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. 15723066

2005
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.680 GeneticVariation CLINVAR