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