OMIA group 2130
Oculocutaneous albinism, OCA2-related
The chain reaches the human disease oculocutaneous albinism type 2, which Mondo defines 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.”
The chain
From the animal disease to the drugs. The page shows what each step found and where the chain stopped. It does not say whether the animal is a model of a human disease.
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Animal disease
Reached
OMIA records it in 4 species entries marked as a defect.
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Human disease
Reached
1 Mondo disease.
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Human gene
Reached
1 human gene.
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Target evidence
Reached
1 Open Targets association, with a best score of 0.85.
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Drugs
Stopped here
No ChEMBL drug acts on a human gene of the group's target evidence.
The chain stopped at Drugs: No ChEMBL drug acts on a human gene of the group's target evidence.
Natural-model score
How complete and how well supported the chain to each human disease is, out of 100, by stated rules. It does not say that the animal is a validated model of the human disease. How the score works.
69.9 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.85 | 29.9 of 35 |
| Drugs | No drug has been tested for this disease, and none acts on its genes | 0.0 of 25 |
| Ortholog | One to one ortholog | 20.0 of 20 |
| Both routes | Both routes found this disease | 10.0 of 10 |
| Species | 3 naturally occurring species entries marked as a defect. 1 genetically engineered entry is not counted | 10.0 of 10 |
Species
The chain follows only the species entries that OMIA marks as a defect.
| Species | Scientific name | OMIA entry | A defect |
|---|---|---|---|
| dog | Canis lupus familiaris | OMIA:002130-9615 | Yes |
| green swordtail | Xiphophorus hellerii | OMIA:002130-8084 | Unknown, not counted |
| guppy | Poecilia reticulata | OMIA:002130-8081 | No, not counted |
| Japanese medaka Genetically engineered, not naturally occurring. Not counted in the score. | Oryzias latipes | OMIA:002130-8090 | Yes |
| Mexican tetra Naturally occurring, and also genetically engineered. | Astyanax mexicanus | OMIA:002130-7994 | Yes |
| Pantherophis guttatus | Pantherophis guttatus | OMIA:002130-94885 | Unknown, not counted |
| pig Genetically engineered, not naturally occurring. Not counted in the score. | Sus scrofa | OMIA:002130-9823 | Unknown, not counted |
| Rhesus monkey | Macaca mulatta | OMIA:002130-9544 | Yes |
Genes
Each gene OMIA records for a species entry, and the human gene it reaches through Ensembl's orthologs.
| Species | Animal gene | Human gene | Ortholog |
|---|---|---|---|
| dog | OCA2 oculocutaneous albinism II NCBI Gene 488683 | OCA2 Ensembl | one to one |
| Japanese medaka | oca2 oculocutaneous albinism II NCBI Gene 100049406 | OCA2 Ensembl | one to one |
| Mexican tetra | OCA2 NCBI Gene 103023169 | The gene belongs to a different species than the entry. | |
| Rhesus monkey | OCA2 oculocutaneous albinism II NCBI Gene 712220 | OCA2 Ensembl | one to one |
| green swordtail Not a defect, not counted | oca2 oculocutaneous albinism II NCBI Gene 116725873 | Ensembl has no gene cross-references for this species. | |
| guppy Not a defect, not counted | No gene | OMIA records no gene for this species entry. | |
| Pantherophis guttatus Not a defect, not counted | OCA2 NCBI Gene 117673766 | Ensembl has no gene cross-references for this species. | |
| pig Not a defect, not counted | OCA2 OCA2 melanosomal transmembrane protein NCBI Gene 397171 | OCA2 Ensembl | one to one |
Human diseases
Two routes lead from an OMIA group to a Mondo human disease: OMIA's own Mondo link, and the group's OMIM numbers through Mondo's cross-references.
- OMIA's own Mondo link: found a disease.
- OMIA's OMIM numbers: found a disease.
| Mondo disease | Name | Found by |
|---|---|---|
| MONDO:0008746 | oculocutaneous albinism type 2 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. | Both routes |
Target evidence
Each Open Targets association between one of the group's human genes and one of its human diseases, with its overall score and the score for each kind of evidence.
| Human gene | Human disease | Score | Evidence | Kinds of evidence |
|---|---|---|---|---|
| OCA2 | oculocutaneous albinism type 2 | 0.85 | 503 | Genetic association 0.95 Genetic literature 0.82 Animal model 0.58 Literature 0.13 |
Drugs
No ChEMBL drug acts on a human gene of the group's target evidence.