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: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		0.690 CausalMutation CLINVAR Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. 21866095

2011
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1
CUI: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		0.690 CausalMutation CLINVAR Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome. 21220633

2011