Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.370 Biomarker BEFREE To assess the incremental cost-effectiveness ratio (ICER) of voretigene neparvovec-rzyl compared with standard care for RPE65-mediated inherited retinal disease. 31318398

2019
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.370 Biomarker BEFREE Cost Utility of Voretigene Neparvovec for Biallelic RPE65-Mediated Inherited Retinal Disease. 30711060

2019
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.370 GeneticVariation BEFREE The clinical features of retinal disease due to a dominant mutation in RPE65. 27307694

2016
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.370 GeneticVariation BEFREE The first human clinical trials of gene therapy for RPE65 associated retinal dystrophy have shown promising initial results and have helped prepare the way for further trials of gene therapy for inherited retinal disorders. 22080959

2012
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.370 Biomarker BEFREE Retinal disease in Rpe65-deficient mice: comparison to human leber congenital amaurosis due to RPE65 mutations. 20484585

2010
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.370 Biomarker BEFREE RPE65: role in the visual cycle, human retinal disease, and gene therapy. 19373675

2009
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.370 AlteredExpression BEFREE Compared with healthy controls, circulating RPE65 mRNA concentration was higher in diabetics with no retinopathy (30%; P= NS), background DR (93%; P= 0.01), preproliferative DR (20%; P= NS), and proliferative DR (107%; P= 0.004). 18837956

2008
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.370 Biomarker GENOMICS_ENGLAND