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: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.100 Biomarker disease BEFREE We have investigated a transcriptome-wide analysis of differential gene expression, single-nucleotide polymorphisms (SNPs), indels, and simple sequence repeats (SSRs) in datasets of the human peripheral retina and RPE-choroid-sclera control and AMD. 30894217 2019
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.100 Biomarker disease BEFREE Thus, oxLDL, Hcy, HCTL and AGE act as pro-oxidant metabolites in RPE that promote AMD through oxidative stress, inflammation, chemotaxis and neovascularization. 31086404 2019
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.100 Biomarker disease BEFREE Increased fundus autofluorescence is directly related to increased RPE lipofuscin deposition in the retina and has been observed in eyes with age-related macular degeneration (AMD). 30991052 2019
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.100 Biomarker disease BEFREE Elemental concentrations in Choroid-RPE and retina of human eyes with age-related macular degeneration. 31271759 2019
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.100 Biomarker disease BEFREE To detect characteristic patterns found en face in RPE with the same structures in histological cross sections from eyes from cadavers of patients with AMD. 30820143 2019
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.100 Biomarker disease BEFREE Strong experimental evidence from studies of human donors with AMD supports the emerging hypothesis that defects in RPE mitochondria drive AMD pathology. 30025108 2018
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.100 Biomarker disease BEFREE This simple and efficient approach provides human RPE generation for developing therapies for diseases such as age-related macular degeneration. 29574166 2018
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.100 AlteredExpression disease BEFREE Evidence presented in this study provides new data regarding the interpretation of published results reporting NLRP3 expression and upregulation in RPE and addresses the role that this inflammasome plays in AMD pathogenesis. 29323137 2018
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.100 Biomarker disease BEFREE These findings together with evidence from human genetics and AMD pathology suggest that RPE-generated HDL may contribute lipid to SDDs. 30076206 2018
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.100 Biomarker disease BEFREE Dynamic expression of E1, E2 and E3 enzymes were found during the time course of RPE and retina degeneration, which revealed the potential regulatory roles of sumoylation in AMD pathogenesis. 30636606 2018
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.100 Biomarker disease BEFREE The thickness of the outer retina showed statistically significant thickening in the foveal region in only the intermediate AMD group and a statistically significant thickening of the RPE in early and intermediate AMD groups in the central retina. 29135322 2018
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.100 Biomarker disease BEFREE Strand specific RNA sequencing of both peripheral retina (PR) and RPE-Choroid-Sclera (PRCS), in both AMD and matched normal controls were generated. 29445097 2018
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.100 Biomarker disease BEFREE RPE from dry AMD globes, genetically engineered mice lacking Cryba1 globally or specifically in the RPE, spontaneous mutant rats (Nuc1) with a loss-of-function mutation in Cryba1, and the melanoma OCM3 cell line were used. 30098172 2018
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.100 GeneticVariation disease BEFREE To correlate in vivo imaging to histology in an eye with macular atrophy owing to age-related macular degeneration (AMD; complete retinal pigment epithelium [RPE] and outer retinal atrophy [cRORA]) to evaluate the utility of new optical coherence tomography (OCT) suggested by previous histology. 29981740 2018
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.100 GeneticVariation disease BEFREE Autophagy deficiency induced by RPE-specific deletion of <i>Atg5</i> or <i>Atg7</i> predisposes but does not necessarily drive the development of AMD-like phenotypes or retinal degeneration. 28465655 2017
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.100 Biomarker disease BEFREE Tears of the RPE occur as frequently as in exudative AMD without SMH. 28280989 2017
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.100 Biomarker disease BEFREE Even if no direct correlation between A2E spatial distribution and lipofuscin fluorescence has been established in aged human RPE, modified forms or metabolites of A2E could be involved in ARMD pathology. 28298893 2017
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.100 Biomarker disease BEFREE A major problem in macular degeneration is the inability to reduce RPE and photoreceptor death. 28346613 2017
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.100 Biomarker disease BEFREE Interestingly, RPE-specific up-regulation in the expression of several complement genes was also seen in patient hiPSC-RPE cultures of all three MDs (SFD, DHRD, and ADRD). 28878022 2017
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.100 Biomarker disease BEFREE In particular, since CD5L is known to stimulate autophagy and to participate in oxidized LDL uptake in macrophages, we propose that anti-CD5L/AIM auto-antibodies may play a role in drusen biogenesis and inflammatory RPE damage in AMD. 27989757 2017
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.100 Biomarker disease BEFREE Early Onset Ultrastructural and Functional Defects in RPE and Photoreceptors of a Stargardt-Like Macular Dystrophy (STGD3) Transgenic Mouse Model. 26529045 2015
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.100 Biomarker disease BEFREE Because A2E accumulation in the RPE is associated with pathogenesis of both Stargardt disease and age-related macular degeneration (AMD) in humans, deletion of Abca4 was introduced into Atg7(flox/flox);VMD2-rtTA-cre+ mice to investigate the role of autophagy during A2E accumulation. 26468292 2015
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.100 Biomarker disease BEFREE RPE of eyes affected by geographic atrophy or neovascular AMD exhibited NLRP3 staining at lesion sites. 23221073 2013
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.100 Biomarker disease BEFREE The accumulation of damaged or postsynthetically modified proteins and dysregulation of inflammatory responses and angiogenesis in the retina/RPE are thought be etiologically related to formation of drusen and choroidal neovascularization (CNV), hallmarks of age-related macular degeneration (AMD). 22521794 2012