rs137852832, CEP290

N. diseases: 17
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 Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290. 22355252 2012
Meckel-Gruber syndrome
CUI: C0265215
Disease: Meckel-Gruber syndrome
0.700 CausalMutation CLINVAR Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290. 22355252 2012
Meckel-Gruber syndrome
CUI: C0265215
Disease: Meckel-Gruber syndrome
0.700 CausalMutation CLINVAR Molecular characterization of Joubert syndrome in Saudi Arabia. 22693042 2012
Nephronophthisis
CUI: C0687120
Disease: Nephronophthisis
0.700 CausalMutation CLINVAR Molecular characterization of Joubert syndrome in Saudi Arabia. 22693042 2012
Meckel-Gruber syndrome
CUI: C0265215
Disease: Meckel-Gruber syndrome
0.700 CausalMutation CLINVAR Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. 21068128 2011
Nephronophthisis
CUI: C0687120
Disease: Nephronophthisis
0.700 CausalMutation CLINVAR Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy. 21245082 2011
Meckel-Gruber syndrome
CUI: C0265215
Disease: Meckel-Gruber syndrome
0.700 CausalMutation CLINVAR Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy. 21245082 2011
Nephronophthisis
CUI: C0687120
Disease: Nephronophthisis
0.700 CausalMutation CLINVAR Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. 21068128 2011
Meckel-Gruber syndrome
CUI: C0265215
Disease: Meckel-Gruber syndrome
0.700 CausalMutation CLINVAR CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. 17564967 2007
Nephronophthisis
CUI: C0687120
Disease: Nephronophthisis
0.700 CausalMutation CLINVAR CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. 17564967 2007
Meckel-Gruber syndrome
CUI: C0265215
Disease: Meckel-Gruber syndrome
0.700 CausalMutation CLINVAR The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. 16682973 2006
Nephronophthisis
CUI: C0687120
Disease: Nephronophthisis
0.700 CausalMutation CLINVAR The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. 16682973 2006
Nephronophthisis
CUI: C0687120
Disease: Nephronophthisis
0.700 CausalMutation CLINVAR Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. 16682970 2006
Meckel-Gruber syndrome
CUI: C0265215
Disease: Meckel-Gruber syndrome
0.700 CausalMutation CLINVAR Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. 16682970 2006
LEBER CONGENITAL AMAUROSIS 10 (disorder)
CUI: C1857821
Disease: LEBER CONGENITAL AMAUROSIS 10 (disorder)
0.700 CausalMutation CLINVAR
SENIOR-LOKEN SYNDROME 6
CUI: C1857779
Disease: SENIOR-LOKEN SYNDROME 6
0.700 CausalMutation CLINVAR
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
0.700 CausalMutation CLINVAR
JOUBERT SYNDROME 5
CUI: C1857780
Disease: JOUBERT SYNDROME 5
0.700 GeneticVariation CLINVAR
Polydactyly
CUI: C0152427
Disease: Polydactyly
0.700 CausalMutation CLINVAR
Renal Insufficiency
CUI: C1565489
Disease: Renal Insufficiency
0.700 CausalMutation CLINVAR
Retinal pigmentary degeneration
CUI: C1833999
Disease: Retinal pigmentary degeneration
0.700 CausalMutation CLINVAR
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR
Congenital nystagmus
CUI: C0700501
Disease: Congenital nystagmus
0.700 CausalMutation CLINVAR
BARDET-BIEDL SYNDROME 14 (disorder)
CUI: C2673874
Disease: BARDET-BIEDL SYNDROME 14 (disorder)
0.700 CausalMutation CLINVAR
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 CausalMutation CLINVAR