RPE65, retinoid isomerohydrolase RPE65, 6121

N. diseases: 431; N. variants: 63
Disease: Blindness, Acquired ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339730
Disease: Blindness, Acquired
Blindness, Acquired 		0.300 Biomarker disease CTD_human Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycle. 16150724 2005
CUI: C0339730
Disease: Blindness, Acquired
Blindness, Acquired 		0.300 Therapeutic disease CTD_human Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycle. 16150724 2005
CUI: C0339730
Disease: Blindness, Acquired
Blindness, Acquired 		0.300 Biomarker disease CTD_human Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness. 16226919 2005
CUI: C0339730
Disease: Blindness, Acquired
Blindness, Acquired 		0.300 Therapeutic disease CTD_human Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness. 16226919 2005