OMIA group 370
Feather colour, SLC45A2-related
The chain reaches the human disease oculocutaneous albinism type 4, which Mondo defines as: “Oculocutaneous albinism type 4 (OCA4) is a type of OCA characterized by varying degrees of skin and hair hypopigmentation, numerous 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 2 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.
66.6 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.85 | 29.6 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 | 2 naturally occurring species entries marked as a defect | 7.0 of 10 |
Species
The chain follows only the species entries that OMIA marks as a defect.
| Species | Scientific name | OMIA entry | A defect |
|---|---|---|---|
| Alexandrine parakeet | Psittacula eupatria | OMIA:000370-232655 | No, not counted |
| chicken Naturally occurring, and also genetically engineered. | Gallus gallus | OMIA:000370-9031 | No, not counted |
| Japanese quail | Coturnix japonica | OMIA:000370-93934 | Yes |
| Plum-headed parakeet | Psittacula cyanocephala | OMIA:000370-232645 | No, not counted |
| Rose-ringed parakeet | Psittacula krameri | OMIA:000370-9228 | No, not counted |
| turkey | Meleagris gallopavo | OMIA:000370-9103 | 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 |
|---|---|---|---|
| Japanese quail | SLC45A2 solute carrier family 45 member 2 NCBI Gene 107305840 | SLC45A2 Ensembl | one to one |
| turkey | No gene | OMIA records no gene for this species entry. | |
| Alexandrine parakeet Not a defect, not counted | SLC45A2 | No NCBI Gene identifier in OMIA. | |
| chicken Not a defect, not counted | SLC45A2 solute carrier family 45, member 2 NCBI Gene 431665 | SLC45A2 Ensembl | one to one |
| Plum-headed parakeet Not a defect, not counted | SLC45A2 | No NCBI Gene identifier in OMIA. | |
| Rose-ringed parakeet Not a defect, not counted | SLC45A2 | No NCBI Gene identifier in OMIA. | |
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:0011683 | oculocutaneous albinism type 4 Oculocutaneous albinism type 4 (OCA4) is a type of OCA characterized by varying degrees of skin and hair hypopigmentation, numerous 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 |
|---|---|---|---|---|
| SLC45A2 | oculocutaneous albinism type 4 | 0.85 | 244 | Genetic association 0.94 Genetic literature 0.85 Animal model 0.64 Literature 0.20 |
Drugs
No ChEMBL drug acts on a human gene of the group's target evidence.