OMIA group 2488
Parkinson disease, PARK7-related
The chain reaches the human disease autosomal recessive early-onset Parkinson disease 7, which Mondo defines as: “Any Parkinson disease in which the cause of the disease is a mutation in the PARK7 gene.”
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 3 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
Stopped here
None of the group's human diseases is in Open Targets.
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Drugs
Not reached
The chain stopped before this step.
The chain stopped at Target evidence: None of the group's human diseases is in Open Targets.
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.
5.0 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | No Open Targets association with this disease | 0.0 of 35 |
| Drugs | No drug has been tested for this disease, and none acts on its genes | 0.0 of 25 |
| Ortholog | No gene of a naturally occurring entry reaches a human gene | 0.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 0 naturally occurring species entries marked as a defect. 3 genetically engineered entries are not counted | 0.0 of 10 |
Species
The chain follows only the species entries that OMIA marks as a defect.
| Species | Scientific name | OMIA entry | A defect |
|---|---|---|---|
| dog Genetically engineered, not naturally occurring. Not counted in the score. | Canis lupus familiaris | OMIA:002488-9615 | Yes |
| pig Genetically engineered, not naturally occurring. Not counted in the score. | Sus scrofa | OMIA:002488-9823 | Yes |
| Rhesus monkey Genetically engineered, not naturally occurring. Not counted in the score. | Macaca mulatta | OMIA:002488-9544 | 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 | PARK7 parkinson protein 7 NCBI Gene 479595 | PARK7 Ensembl | one to one |
| pig | PARK7 parkinson protein 7 NCBI Gene 780404 | PARK7 Ensembl | one to one |
| Rhesus monkey | PARK7 Parkinsonism associated deglycase NCBI Gene 708377 | PARK7 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: OMIA links the group to no Mondo disease.
- OMIA's OMIM numbers: found a disease.
| Mondo disease | Name | Found by |
|---|---|---|
| MONDO:0011658 | autosomal recessive early-onset Parkinson disease 7 Any Parkinson disease in which the cause of the disease is a mutation in the PARK7 gene. | OMIA's OMIM numbers |
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.
The chain did not reach target evidence.
Drugs
The chain did not reach the drugs.