RPE, ribulose-5-phosphate-3-epimerase, 6120

N. diseases: 90; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.050 Biomarker group BEFREE The steady progression of severe HCQ retinopathy in eyes showing RPE damage after drug cessation suggests a metabolic insult that chronically destabilizes rather than destroys cellular function, with a clinical course resembling that of genetic dystrophies. 30550532 2019
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.050 Biomarker group BEFREE This set of experiments strongly indicates that the DOR agonism preserves RPE tight junctions and reduces the early markers of retinopathy in model of diabetes. 31529081 2019
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.050 Biomarker group BEFREE Rhythmic Regulation of Photoreceptor and RPE Genes Important for Vision and Genetically Associated With Severe Retinal Diseases. 30073352 2018
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.050 Biomarker group BEFREE Stem Cell-Based RPE Therapy for Retinal Diseases: Engineering 3D Tissues Amenable for Regenerative Medicine. 29721996 2018
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.050 Biomarker group BEFREE Genotyped parents (n = 26; age 37-64 years) of patients with biallelic ABCA4-related retinopathy underwent in-depth retinal phenotyping including qAF imaging as a surrogate measure for RPE lipofuscin accumulation. 26720470 2015