rs121917745, RPE65

N. diseases: 4
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 GeneticVariation CLINVAR Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants. 29681726 2018
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
0.700 GeneticVariation 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 GeneticVariation CLINVAR RPE65 Mutations in Two Japanese Families with Leber Congenital Amaurosis. 25495949 2016
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
0.700 GeneticVariation CLINVAR Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark. 26626312 2016
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
0.700 GeneticVariation CLINVAR Temperature-sensitive retinoid isomerase activity of RPE65 mutants associated with Leber Congenital Amaurosis. 25752820 2015
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
0.700 GeneticVariation CLINVAR A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers. 15557452 2004
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
0.700 CausalMutation CLINVAR