rs137852834, CEP290

N. diseases: 13
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
Renal Insufficiency
CUI: C1565489
Disease: Renal Insufficiency
0.700 CausalMutation CLINVAR
SENIOR-LOKEN SYNDROME 6
CUI: C1857779
Disease: SENIOR-LOKEN SYNDROME 6
0.700 CausalMutation CLINVAR
Nystagmus
CUI: C0028738
Disease: Nystagmus
0.700 CausalMutation CLINVAR
BARDET-BIEDL SYNDROME 14 (disorder)
CUI: C2673874
Disease: BARDET-BIEDL SYNDROME 14 (disorder)
0.700 CausalMutation CLINVAR
MECKEL SYNDROME, TYPE 4
CUI: C1970161
Disease: MECKEL SYNDROME, TYPE 4
0.700 CausalMutation CLINVAR
Molar tooth sign on MRI
CUI: C1865060
Disease: Molar tooth sign on MRI
0.700 CausalMutation CLINVAR
Macular dystrophy
CUI: C0730292
Disease: Macular dystrophy
0.700 CausalMutation CLINVAR
Blindness
CUI: C0456909
Disease: Blindness
0.700 CausalMutation CLINVAR
Abnormality of retinal pigmentation
CUI: C1862475
Disease: Abnormality of retinal pigmentation
0.700 CausalMutation CLINVAR
Central hypotonia
CUI: C1842364
Disease: Central hypotonia
0.700 CausalMutation CLINVAR
LEBER CONGENITAL AMAUROSIS 10 (disorder)
CUI: C1857821
Disease: LEBER CONGENITAL AMAUROSIS 10 (disorder)
0.700 CausalMutation CLINVAR
Ciliopathies
CUI: C4277690
Disease: Ciliopathies
0.010 GeneticVariation BEFREE This observation led us to consider targeted exon skipping to bypass protein truncation resulting from a recurrent mutation in exon 36 (c.4723A > T, p.Lys1575*) causing isolated retinal ciliopathy. 31091803 2019