Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
0.500 GeneticVariation phenotype BEFREE The form of hereditary childhood blindness Leber congenital amaurosis (LCA) caused by biallelic RPE65 mutations is considered treatable with a gene therapy product approved in the US and Europe. 31604676 2020
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
0.500 Biomarker phenotype BEFREE The gene therapy voretigene neparvovec (VN) is the first Food and Drug Administration-approved treatment for vision loss owing to the ultra-rare RPE65-mediated inherited retinal disorders. 30711060 2019
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
0.500 Biomarker phenotype BEFREE Mutations in key transcription factors SOX2 and P63 were linked with developmental defects and postnatal abnormalities such as corneal opacification, neovascularization, and blindness. 30548157 2019
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
0.500 GeneticVariation phenotype BEFREE Mutations in RPE65 result in a disrupted chromophore supply, retinal degeneration, and blindness. 30242264 2018
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
0.500 GeneticVariation phenotype BEFREE The RPE65 gene therapy trials to treat childhood blindness are a good example of how studies in dogs have contributed to therapy development. 25671556 2015
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
0.500 Biomarker phenotype BEFREE Following a gene candidate approach, we established that RPE65, the isomerohydrolase of the visual cycle, is responsible for severe childhood blindness (Leber congenital amaurosis or early onset retinal dystrophy). 24702842 2014
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
0.500 GeneticVariation phenotype BEFREE The remarkable success in safety and efficacy, in the phase I/II clinical trials for the form of the severe childhood-onset blindness, Leber's Congenital Amaurosis (LCA) type II (due to mutations in the RPE65 gene) generated significant interest and opened up possibilities for a new era of retinal gene therapies. 24702845 2014
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
0.500 GeneticVariation phenotype BEFREE Leber congenital amaurosis, caused by mutations in RPE65 and LRAT, is a severe form of inherited retinal degeneration leading to blindness. 25030840 2014
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
0.500 GeneticVariation phenotype BEFREE Leber congenital amaurosis (LCA) associated with retinal pigment epithelium-specific protein 65 kDa (RPE65) mutations is a severe hereditary blindness resulting from both dysfunction and degeneration of photoreceptors. 23341635 2013
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
0.500 GeneticVariation phenotype BEFREE Demonstration of safe and stable reversal of blindness after a single unilateral subretinal injection of a recombinant adeno-associated virus (AAV) carrying the RPE65 gene (AAV2-hRPE65v2) prompted us to determine whether it was possible to obtain additional benefit through a second administration of the AAV vector to the contralateral eye. 22323828 2012
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
0.500 Biomarker phenotype BEFREE These preclinical studies have already allowed the field to reach the point where gene therapy to treat inherited blindness has been brought to clinical trial.In this chapter, we focus on AAV-mediated specific gene therapy for inherited retinal degenerative diseases, describing the disease targets, the preclinical studies in animal models and the recent success of the LCA-RPE65 clinical trials. 22034031 2011
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
0.500 GeneticVariation phenotype BEFREE Recent clinical trials using recombinant adeno-associated virus serotype 2 (rAAV2) successfully reversed blindness in patients with LCA caused by RPE65 mutations after one subretinal injection. 20374996 2010
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
0.500 GeneticVariation phenotype BEFREE Individuals with this RPE65 mutation were characterized with retinal studies to determine if they were candidates for gene replacement, the recent and only therapy to date for this otherwise incurable blindness. 20604683 2010
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
0.500 GeneticVariation phenotype BEFREE Mutations in RPE65 are known to be responsible for a subset of cases of the most common form of childhood blindness, Leber congenital amaurosis (LCA). 19805034 2009
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
0.500 GeneticVariation phenotype BEFREE Human gene therapy with rAAV2-vector was performed for the RPE65 form of childhood blindness called Leber congenital amaurosis. 19583479 2009
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
0.500 GeneticVariation phenotype BEFREE Mutations in human RPE65 cause Leber's congenital amaurosis and other forms of autosomal recessive retinitis pigmentosa which are associated with early-onset blindness. 19373675 2009
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
0.500 Biomarker phenotype LHGDN Successful RPE65 gene replacement and improved visual function in humans. 18766986 2008
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
0.500 GeneticVariation phenotype BEFREE Mutations in RPE65 disrupt the retinoid cycle and cause a congenital human blindness known as Leber congenital amaurosis (LCA). 18809924 2008
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
0.500 GeneticVariation phenotype LHGDN Screening of the RPE65 gene in the Asian Indian patients with leber congenital amaurosis. 18484312 2008
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
0.500 GeneticVariation phenotype BEFREE Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation. 17594175 2007
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
0.500 Biomarker phenotype BEFREE Safety in nonhuman primates of ocular AAV2-RPE65, a candidate treatment for blindness in Leber congenital amaurosis. 16942444 2006
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
0.500 GeneticVariation phenotype BEFREE These observations suggest that the decreased protein stability and altered subcellular localization of RPE65 may represent a mechanism for these mutations to lead to vision loss in LCA patients. 16828753 2006
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
0.500 Biomarker phenotype LHGDN Mutations in RPE65, a gene essential to normal operation of the visual (retinoid) cycle, cause the childhood blindness known as Leber congenital amaurosis (LCA). 15837919 2005
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
0.500 Therapeutic phenotype CTD_human Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness. 16226919 2005
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
0.500 GeneticVariation phenotype BEFREE Mutations in the retinal pigment epithelium gene encoding RPE65 cause an early onset autosomal recessive form of human retinitis pigmentosa, known as Leber congenital amaurosis (LCA), which results in blindness or severely impaired vision in children. 15765048 2005