Human disease
oculocutaneous albinism type 2
Mondo defines it as: “Oculocutaneous albinism type 2 (OCA2) is a type of OCA and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm.”
2 disease groups in OMIA reach this disease, through OMIA's own Mondo link or its OMIM numbers. The page shows the chain. It does not say whether an animal is a model of this disease.
Animal diseases
By natural-model score for this disease, highest first. The score says how complete and how well supported each chain is, by stated rules. How the score works.
| OMIA group | Name | Found by | Species | The chain reached | Score |
|---|---|---|---|---|---|
| 2130 | Oculocutaneous albinism, OCA2-related | Both routes | 8 | Target evidence |
69.9
|
| 1544 | Hypotrichosis with coat-colour dilution (rat-tail syndrome) | OMIA's OMIM numbers | 1 | Drug |
49.0
|
Human genes
Each human gene of these disease groups that Open Targets links to this disease.
| Human gene | Score | Evidence |
|---|---|---|
| OCA2 | 0.85 | 503 |
| MC1R | 0.50 | 51 |
| PMEL | 0.06 | 2 |
Drugs tested for this disease
Each ChEMBL drug that has been tested for this disease, and the human genes above it acts on, if any. Open Targets gives some drugs, such as most enzyme replacement therapies, no target gene.
No drug has been tested for this disease.