rs137852832, CEP290

N. diseases: 17
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
0.710 GeneticVariation BEFREE By studying patient biopsies, patient-derived kidney cells, and a mouse model, we identify abnormal elongation of primary cilia as a key pathophysiological feature of <i>CEP290</i>-associated JBTS and show that antisense oligonucleotide (ASO)-induced splicing of the mutated exon (41, G1890*) restores protein expression in patient cells. 30446612 2018
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
0.710 CausalMutation CLINVAR Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies. 27353947 2016
Nephronophthisis
CUI: C0687120
Disease: Nephronophthisis
0.700 CausalMutation CLINVAR Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies. 27353947 2016
Meckel-Gruber syndrome
CUI: C0265215
Disease: Meckel-Gruber syndrome
0.700 CausalMutation CLINVAR Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies. 27353947 2016
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
0.710 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
Meckel-Gruber syndrome
CUI: C0265215
Disease: Meckel-Gruber syndrome
0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
JOUBERT SYNDROME 5
CUI: C1857780
Disease: JOUBERT SYNDROME 5
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 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
0.710 CausalMutation CLINVAR Development of end-stage renal disease at a young age in two cases with Joubert syndrome. 25818971 2016
Meckel-Gruber syndrome
CUI: C0265215
Disease: Meckel-Gruber syndrome
0.700 CausalMutation CLINVAR Development of end-stage renal disease at a young age in two cases with Joubert syndrome. 25818971 2016
Nephronophthisis
CUI: C0687120
Disease: Nephronophthisis
0.700 CausalMutation CLINVAR Development of end-stage renal disease at a young age in two cases with Joubert syndrome. 25818971 2016
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
0.710 CausalMutation CLINVAR 12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4. 23954617 2013
Nephronophthisis
CUI: C0687120
Disease: Nephronophthisis
0.700 CausalMutation CLINVAR 12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4. 23954617 2013
Meckel-Gruber syndrome
CUI: C0265215
Disease: Meckel-Gruber syndrome
0.700 CausalMutation CLINVAR 12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4. 23954617 2013
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
0.710 CausalMutation CLINVAR Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. 23591405 2014
Nephronophthisis
CUI: C0687120
Disease: Nephronophthisis
0.700 CausalMutation CLINVAR Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. 23591405 2014
Meckel-Gruber syndrome
CUI: C0265215
Disease: Meckel-Gruber syndrome
0.700 CausalMutation CLINVAR Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. 23591405 2014
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
0.710 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 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
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
0.710 CausalMutation CLINVAR Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290. 22355252 2012
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
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
0.710 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