OMIA group 2748
Parkinson disease, PRKN-related
The chain reaches the human disease autosomal recessive juvenile Parkinson disease 2, which Mondo defines as: “A group of disorders which feature impaired motor control characterized by bradykinesia, muscle rigidity; tremor; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see Parkinson disease), secondary parkinsonism (see Parkinson disease, secondary) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the basal ganglia.”
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
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. 2 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 |
|---|---|---|---|
| pig Genetically engineered, not naturally occurring. Not counted in the score. | Sus scrofa | OMIA:002748-9823 | Yes |
| Rhesus monkey Genetically engineered, not naturally occurring. Not counted in the score. | Macaca mulatta | OMIA:002748-9544 | 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 |
|---|---|---|---|
| pig | PRKN parkin RBR E3 ubiquitin protein ligase NCBI Gene 733673 | PRKN Ensembl | one to one |
| Rhesus monkey | PRKN parkin RBR E3 ubiquitin protein ligase NCBI Gene 710899 | PRKN 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:0010820 | autosomal recessive juvenile Parkinson disease 2 A group of disorders which feature impaired motor control characterized by bradykinesia, muscle rigidity; tremor; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see Parkinson disease), secondary parkinsonism (see Parkinson disease, secondary) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the basal ganglia. | 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.