Human gene
RPE65 retinal pigment epithelium-specific protein 65kDa
1 disease group in OMIA reaches this gene, through the animal gene that Ensembl gives as its ortholog. The page shows the chain. It does not say whether an animal is a model of a human disease.
Animal diseases
By each group's best natural-model score, highest first. How the score works.
| OMIA group | Name | Species | Animal gene | Ortholog | The chain reached | Best score |
|---|---|---|---|---|---|---|
| 1222 | Leber congenital amaurosis | dog | RPE65 | one to one | Drug |
63.3
|
Target evidence
Each Open Targets association between this gene and a human disease that a disease group reached.
| Human disease | Mondo | Score | Evidence |
|---|---|---|---|
| Leber congenital amaurosis 2 | MONDO:0008765 | 0.82 | 1,226 |
| retinitis pigmentosa 87 with choroidal involvement | MONDO:0032873 | 0.65 | 73 |
Drugs
Each ChEMBL drug that acts on this gene.
| Drug | How | Latest stage |
|---|---|---|
| Voretigene Neparvovec | exogenous gene | Approved |
| Emixustat | inhibitor | Phase 2/3 |
The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.