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

N. diseases: 90; N. variants: 4
Disease: Congenital hypertrophy of retinal pigment epithelium ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339555
Disease: Congenital hypertrophy of retinal pigment epithelium
Congenital hypertrophy of retinal pigment epithelium 		0.010 Biomarker disease BEFREE RPE function was assessed in 7 subjects with CHRPE and a family history of FAP. 8016465 1994