EC Number   |
Disease  |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
   1.1.1.105 | Retinal Dystrophies |
19506076 |
Rdh12 activity and effects on retinoid processing in the murine retina. |
causal interaction
ongoing research
unassigned |
3
2
0 |
| 1.1.1.105 | Retinal Dystrophies |
19686838 |
Retinol dehydrogenase 12 detoxifies 4-hydroxynonenal in photoreceptor cells. |
therapeutic application
unassigned |
1
0 |
| 1.1.1.105 | Retinal Dystrophies |
24625443 |
Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy. |
causal interaction
diagnostic usage
unassigned |
1
3
0 |
| 1.1.1.105 | Retinal Dystrophies |
24752437 |
Longitudinal clinical course of three Japanese patients with Leber congenital amaurosis/early-onset retinal dystrophy with RDH12 mutation. |
causal interaction
unassigned |
3
0 |
| 1.1.1.105 | Retinal Dystrophies |
30134391 |
PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY. |
causal interaction
diagnostic usage
unassigned |
4
3
0 |
| 1.1.1.105 | Retinal Dystrophies |
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 | Retinal Dystrophies |
31424981 |
Choroidal neovascularization in an adolescent with RDH12-associated retinal degeneration. |
causal interaction
unassigned |
4
0 |
| 1.1.1.105 | Retinal Dystrophies |
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 | Retinal Dystrophies |
32014858 |
Expanding the phenotypic spectrum in RDH12-associated retinal disease. |
causal interaction
therapeutic application
unassigned |
1
1
0 |
| 1.1.1.105 | Retinal Dystrophies |
32322264 |
Novel Heterozygous Deletion in Retinol Dehydrogenase 12 (RDH12) Causes Familial Autosomal Dominant Retinitis Pigmentosa. |
causal interaction
unassigned |
4
0 |
