rs727503855, CEP290

N. diseases: 6
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 Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy. 27491411 2016
Nephronophthisis
CUI: C0687120
Disease: Nephronophthisis
0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
Nephronophthisis
CUI: C0687120
Disease: Nephronophthisis
0.700 CausalMutation CLINVAR Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. 26047050 2015