EC Number |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
---|
1.1.1.105 | Blindness |
17389517 |
The phenotype of early-onset retinal degeneration in persons with RDH12 mutations. |
causal interaction diagnostic usage therapeutic application unassigned |
4 3 1 0 |
1.1.1.105 | Blindness |
17512723 |
RDH12, a retinol dehydrogenase causing Leber's congenital amaurosis, is also involved in steroid metabolism. |
causal interaction unassigned |
3 0 |
1.1.1.105 | Blindness |
17512964 |
Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations. |
causal interaction ongoing research unassigned |
3 2 0 |
1.1.1.105 | Blindness |
18326732 |
Retinol dehydrogenases RDH11 and RDH12 in the mouse retina: expression levels during development and regulation by oxidative stress. |
causal interaction unassigned |
3 0 |
1.1.1.105 | Blindness |
19686838 |
Retinol dehydrogenase 12 detoxifies 4-hydroxynonenal in photoreceptor cells. |
therapeutic application unassigned |
1 0 |
1.1.1.105 | Blindness |
19840725 |
Which Leber congenital amaurosis patients are eligible for gene therapy trials? |
causal interaction diagnostic usage unassigned |
1 1 0 |
1.1.1.105 | Blindness |
20736127 |
Novel RDH12 sequence variations in Leber congenital amaurosis. |
unassigned |
0 |
1.1.1.105 | Blindness |
22621924 |
Reduction of all-trans-retinal in vertebrate rod photoreceptors requires the combined action of RDH8 and RDH12. |
causal interaction unassigned |
3 0 |
1.1.1.105 | Blindness |
25148430 |
Genome-wide homozygosity mapping in families with leber congenital amaurosis identifies mutations in AIPL1 and RDH12 genes. |
diagnostic usage unassigned |
3 0 |
1.1.1.105 | Blindness |
27809489 |
Structural Insights into the Drosophila melanogaster Retinol Dehydrogenase, a Member of the Short-Chain Dehydrogenase/Reductase Family. |
ongoing research unassigned |
2 0 |