RDH12, retinol dehydrogenase 12, 145226

N. diseases: 56; N. variants: 24
Disease: Retinal Dystrophies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.460 GeneticVariation group BEFREE Overall, the findings indicated that biallelic RDH12 mutations are a common cause of early-onset retinal dystrophy and a rare cause of cone-rod dystrophy. 30134391 2019
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.460 Biomarker group BEFREE <b>Conclusions</b>: Choroidal neovascularization may be a unique occurrence in <i>RDH12-</i>associated retinal dystrophy. 31424981 2019
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.460 GeneticVariation group BEFREE RDH12 mutations account for approximately 7% of disease in our cohort of patients diagnosed with Leber congenital amaurosis and early-onset retinal dystrophy. 22065924 2011
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.460 GeneticVariation group BEFREE Recent studies have linked the mutations in RDH12 to severe early-onset autosomal recessive retinal dystrophy. 17925390 2007
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.460 Biomarker group CTD_human Redundant and unique roles of retinol dehydrogenases in the mouse retina. 18048336 2007
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.460 GeneticVariation group BEFREE Mutations in RDH12 cause severe and progressive childhood onset autosomal-recessive retinal dystrophy, including Leber congenital amaurosis. 17130236 2007
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.460 GeneticVariation group BEFREE Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. 15258582 2004
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.460 CausalMutation group CLINVAR Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. 15258582 2004
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.460 Biomarker group HPO
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.460 GeneticVariation group CLINVAR