RDH5, retinol dehydrogenase 5, 5959

N. diseases: 49; N. variants: 21
Disease: Night blindness, congenital stationary ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.310 Biomarker disease GENOMICS_ENGLAND Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus). 21529959 2011
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.310 GeneticVariation disease BEFREE These findings strongly implicate defects of RDH5 as the cause of fundus albipunctatus and point to a heterogeneity of RDH5 mutations in this form of congenital stationary night blindness with variable expressivity. 10617778 1999