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: C0339543
Disease: Epiretinal Membrane
Epiretinal Membrane
0.030 GeneticVariation disease BEFREE A comparative analysis of peripapillary vs macular combined hamartoma identified differences in the following features: lesion pigmentation on CFPs corresponding to hypoautofluorescent FAF (88% vs 0%, P < .001) and OCT features of full-thickness involvement (88% vs 3%, P < .001), preretinal fibrosis (27% vs 81%, P < .001), maxi peaks (5% vs 88%, P < .001), intraretinal cystoid spaces (72% vs 40%, P < .038), outer plexiform layer involvement (5% vs 96%, P < .001), ellipsoid zone disruption (83% vs 3%, P < .001), RPE disruption (77% vs 3%, P < .001), and choroidal neovascularization (16% vs 0%, P = .028). 30689986 2019
CUI: C0339543
Disease: Epiretinal Membrane
Epiretinal Membrane
0.030 GeneticVariation disease BEFREE Furthermore, the postoperative fundus findings regarding RPE alterations and macular edema were significantly higher in MP group when compared to the CM group (<i>P</i>=0.01). 29259907 2017
CUI: C0339543
Disease: Epiretinal Membrane
Epiretinal Membrane
0.030 Biomarker disease BEFREE In vitro experiments revealed the role of MALAT1 in regulating RPE proliferation and migration, which is critical for ERMs formation. 26241674 2015