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

N. diseases: 90; N. variants: 4
Disease: Retinal pigment epithelium atrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1720251
Disease: Retinal pigment epithelium atrophy
Retinal pigment epithelium atrophy 		0.030 GeneticVariation disease BEFREE Fundus autofluorescence (FAF): Increased AF reflects lipofuscin accumulation in the RPE; decreased AF reflects RPE atrophy. 30578502 2019
CUI: C1720251
Disease: Retinal pigment epithelium atrophy
Retinal pigment epithelium atrophy 		0.030 Biomarker disease BEFREE Superimposing the sub-RPE slab over the images corresponding to the photoreceptor slab, the area of the photoreceptor atrophy sharply exceeded that of the RPE atrophy (44/46 eyes, 96 %). 26743751 2016
CUI: C1720251
Disease: Retinal pigment epithelium atrophy
Retinal pigment epithelium atrophy 		0.030 Biomarker disease BEFREE This course was associated in all PEDs with progressive visual loss, accompanied by the development of RPE atrophy in avascular PEDs or disciform scars or RPE tears in the two other types. 12136282 2002