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

N. diseases: 90; N. variants: 4
Disease: Hypopigmentation disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		0.020 Biomarker disease BEFREE The RPE was severely degenerated, with thinning, pigment clumping and sub-epithelial debris deposition in all the areas examined.The choroid displayed depigmentation. 18766988 2008
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		0.020 Biomarker disease BEFREE Patches of RPE hypopigmentation were noted clinically in 57% of Rab38(cht/cht) eyes and 6% of Rab38(cht/)(+) eyes. 17724166 2007