OMIA group 1071
Wilson disease
The chain reaches the human disease Wilson disease, which Mondo defines as: “A very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.”
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 7 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 0.86.
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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.
95.2 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.86 | 30.2 of 35 |
| Drugs | A drug has reached approved for this disease | 25.0 of 25 |
| Ortholog | One to one ortholog | 20.0 of 20 |
| Both routes | Both routes found this disease | 10.0 of 10 |
| Species | 6 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:001071-9615 | Yes |
| domestic cat | Felis catus | OMIA:001071-9685 | Yes |
| domestic cattle | Bos taurus | OMIA:001071-9913 | Yes |
| domestic ferret | Mustela putorius furo | OMIA:001071-9669 | Yes |
| pig | Sus scrofa | OMIA:001071-9823 | Yes |
| rabbit Genetically engineered, not naturally occurring. Not counted in the score. | Oryctolagus cuniculus | OMIA:001071-9986 | Yes |
| sheep | Ovis aries | OMIA:001071-9940 | 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 | ATP7B ATPase, Cu++ transporting, beta polypeptide NCBI Gene 476903 | ATP7B Ensembl | one to one |
| domestic cat | ATP7B ATPase, Cu++ transporting, beta polypeptide NCBI Gene 101091495 | ATP7B Ensembl | one to one |
| domestic cattle | No gene | OMIA records no gene for this species entry. | |
| domestic ferret | No gene | OMIA records no gene for this species entry. | |
| pig | No gene | OMIA records no gene for this species entry. | |
| rabbit | ATP7B ATPase copper transporting beta NCBI Gene 100344865 | ATP7B Ensembl | one to one |
| sheep | No gene | OMIA records no gene for this species entry. | |
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:0010200 | Wilson disease A very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body. | 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 |
|---|---|---|---|---|
| ATP7B | Wilson disease | 0.86 | 4,946 | Genetic association 0.95 Literature 0.92 Genetic literature 0.86 Animal model 0.44 |
Drugs
No ChEMBL drug acts on a human gene of the group's target evidence.