rs386834152, CEP290

N. diseases: 7
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
Leber Congenital Amaurosis
CUI: C0339527
Disease: Leber Congenital Amaurosis
0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
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
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
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
MECKEL SYNDROME, TYPE 4
CUI: C1970161
Disease: MECKEL SYNDROME, TYPE 4
0.700 GeneticVariation CLINVAR