Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		0.910 GeneticVariation disease CLINVAR Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants. 29681726 2018
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		0.910 Biomarker disease BEFREE Of the large number genes that cause IRDs, bi-allelic mutations in RPE65 lead to Leber Congenital Amaurosis type 2 (LCA 2), and can also result in phenotypes described as severe early childhood onset retinal dystrophy (SECORD) and Retinitis pigmentosa 20 (RP20). 30335549 2018
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		0.910 CausalMutation disease CLINVAR Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies. 28181551 2017
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		0.910 CausalMutation disease CLINVAR Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark. 26626312 2016
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		0.910 GeneticVariation disease CLINVAR Functional Rescue of Retinal Degeneration-Associated Mutant RPE65 Proteins. 26427455 2016
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		0.910 GeneticVariation disease CLINVAR Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark. 26626312 2016
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		0.910 CausalMutation disease CLINVAR Preserved visual function in retinal dystrophy due to hypomorphic RPE65 mutations. 26906952 2016
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		0.910 GeneticVariation disease CLINVAR Preserved visual function in retinal dystrophy due to hypomorphic RPE65 mutations. 26906952 2016
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		0.910 GeneticVariation disease CLINVAR RPE65 Mutations in Two Japanese Families with Leber Congenital Amaurosis. 25495949 2016
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		0.910 GeneticVariation disease CLINVAR Temperature-sensitive retinoid isomerase activity of RPE65 mutants associated with Leber Congenital Amaurosis. 25752820 2015
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		0.910 CausalMutation disease CLINVAR Autofluorescence imaging with near-infrared excitation:normalization by reflectance to reduce signal from choroidal fluorophores. 26024124 2015
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		0.910 CausalMutation disease CLINVAR Temperature-sensitive retinoid isomerase activity of RPE65 mutants associated with Leber Congenital Amaurosis. 25752820 2015
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		0.910 GeneticVariation disease UNIPROT Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy. 23878505 2013
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		0.910 GeneticVariation disease UNIPROT Next-generation genetic testing for retinitis pigmentosa. 22334370 2012
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		0.910 CausalMutation disease CLINVAR Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years. 21911650 2012
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		0.910 CausalMutation disease CLINVAR Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis. 21153841 2011
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		0.910 CausalMutation disease CLINVAR Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes. 20683928 2010
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		0.910 CausalMutation disease CLINVAR Molecular anthropology meets genetic medicine to treat blindness in the North African Jewish population: human gene therapy initiated in Israel. 20604683 2010
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		0.910 CausalMutation disease CLINVAR Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray. 21151602 2010
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		0.910 GeneticVariation disease CLINVAR Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa. 20079931 2010
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		0.910 CausalMutation disease CLINVAR Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis. 19959640 2010
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		0.910 GeneticVariation disease CLINVAR Predicting the pathogenicity of RPE65 mutations. 19431183 2009
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		0.910 CausalMutation disease CLINVAR Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations. 19117922 2009
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		0.910 CausalMutation disease CLINVAR Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial. 19854499 2009
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		0.910 CausalMutation disease CLINVAR Predicting the pathogenicity of RPE65 mutations. 19431183 2009