rs61752877, RPE65

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Retinitis Pigmentosa 20
CUI: C3151086
Disease: Retinitis Pigmentosa 20
0.700 CausalMutation CLINVAR Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes. 20683928 2010
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
0.700 CausalMutation CLINVAR Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes. 20683928 2010
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
0.700 CausalMutation CLINVAR Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial. 19854499 2009
Retinitis Pigmentosa 20
CUI: C3151086
Disease: Retinitis Pigmentosa 20
0.700 CausalMutation CLINVAR Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial. 19854499 2009
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
0.700 CausalMutation CLINVAR Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis. 9501220 1998
Retinitis Pigmentosa 20
CUI: C3151086
Disease: Retinitis Pigmentosa 20
0.700 CausalMutation CLINVAR Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis. 9501220 1998