rs281865520, RPE65

N. diseases: 2
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
0.700 CausalMutation CLINVAR Preserved visual function in retinal dystrophy due to hypomorphic RPE65 mutations. 26906952 2016
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
0.700 CausalMutation CLINVAR Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis. 19959640 2010
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
0.700 CausalMutation CLINVAR