RDH12, retinol dehydrogenase 12, 145226

N. diseases: 56; N. variants: 24
Disease: Blindness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0456909
Disease: Blindness
Blindness 		0.120 GeneticVariation phenotype LHGDN Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa. 18779497 2008
CUI: C0456909
Disease: Blindness
Blindness 		0.120 GeneticVariation phenotype LHGDN Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations. 17512964 2007
CUI: C0456909
Disease: Blindness
Blindness 		0.120 Biomarker phenotype HPO