EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
   1.1.1.105 | Blindness |
28471114 |
Phenotype-genotype correlation with Sanger sequencing identified retinol dehydrogenase 12 (RDH12) compound heterozygous variants in a Chinese family with Leber congenital amaurosis. |
unassigned |
0 |
| 1.1.1.105 | Blindness |
28513254 |
Peripapillary sparing in RDH12-associated Leber congenital amaurosis. |
unassigned |
0 |
| 1.1.1.105 | Blindness |
28540421 |
Yeast ENV9 encodes a conserved lipid droplet (LD) short-chain dehydrogenase involved in LD morphology. |
causal interaction
unassigned |
4
0 |
| 1.1.1.105 | Blindness |
30979730 |
Detailed clinical characterisation, unique features and natural history of autosomal recessive RDH12-associated retinal degeneration. |
causal interaction
ongoing research
therapeutic application
unassigned |
2
1
3
0 |
| 1.1.1.105 | Blindness |
31237438 |
Development of a Gene Therapy Vector for RDH12-Associated Retinal Dystrophy. |
causal interaction
therapeutic application
unassigned |
3
2
0 |
| 1.1.1.105 | Blindness |
31424981 |
Choroidal neovascularization in an adolescent with RDH12-associated retinal degeneration. |
causal interaction
unassigned |
4
0 |
| 1.1.1.105 | Blindness |
31505163 |
Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives. |
causal interaction
ongoing research
therapeutic application
unassigned |
4
3
3
0 |
| 1.1.1.105 | Blindness |
32322264 |
Novel Heterozygous Deletion in Retinol Dehydrogenase 12 (RDH12) Causes Familial Autosomal Dominant Retinitis Pigmentosa. |
causal interaction
unassigned |
4
0 |
| 1.1.1.105 | Blindness |
32855876 |
Report from a Workshop on Accelerating the Development of Treatments for Inherited Retinal Dystrophies Associated with Mutations in the RDH12 Gene. |
causal interaction
unassigned |
3
0 |
| 1.1.1.105 | Blindness |
33928237 |
Retinal imaging in inherited retinal diseases. |
causal interaction
unassigned |
1
0 |
