RDH12, retinol dehydrogenase 12, 145226

N. diseases: 56; N. variants: 24
Disease: Abnormality of the eye ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.100 CausalMutation phenotype CLINVAR Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. 15258582 2004