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

N. diseases: 90; N. variants: 4
Disease: Atrophoderma maculatum ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1288283
Disease: Atrophoderma maculatum
Atrophoderma maculatum 		0.020 Biomarker disease BEFREE Most had discernible macular changes on biomicroscopy, which varied from subtle RPE change to gross macular atrophy. 17041576 2007
CUI: C1288283
Disease: Atrophoderma maculatum
Atrophoderma maculatum 		0.020 GeneticVariation disease BEFREE The fundi of the affected subjects showed macular atrophy by middle age, while the carriers showed peripheral RPE granularity in childhood and macular atrophy in late middle age. 17652762 2007