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EC Number
Disease
PubMed ID
Title of Publication
Category
Confidence Level
Granulomatous Disease, Chronic
[Chronic granulomatous disease recognised in 42-years-old patient.]
causal interaction
3
Leber Congenital Amaurosis
Choroidal neovascularization in an adolescent with RDH12-associated retinal degeneration.
causal interaction
3
Blindness
Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives.
causal interaction
2
Retinal Dystrophies
The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.
causal interaction
3
Cone-Rod Dystrophies
Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations.
causal interaction
3
Leber Congenital Amaurosis
Development of a Gene Therapy Vector for RDH12-Associated Retinal Dystrophy.
causal interaction
3
Blindness
Choroidal neovascularization in an adolescent with RDH12-associated retinal degeneration.
causal interaction
3
Retinal Dystrophies
Targeted disruption of the murine retinal dehydrogenase gene Rdh12 does not limit visual cycle function.
causal interaction
3
Leber Congenital Amaurosis
Yeast ENV9 encodes a conserved lipid droplet (LD) short-chain dehydrogenase involved in LD morphology.
causal interaction
3
Blindness
Development of a Gene Therapy Vector for RDH12-Associated Retinal Dystrophy.
causal interaction
3
Results 1 - 10 of 400 > >>