rs539400286, CEP290

N. diseases: 9
Disease: Nephronophthisis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Nephronophthisis
CUI: C0687120
Disease: Nephronophthisis
0.700 CausalMutation CLINVAR Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies. 29398085 2018
Nephronophthisis
CUI: C0687120
Disease: Nephronophthisis
0.700 CausalMutation CLINVAR Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes. 20683928 2010