OMIA group 2195
Cardiomyopathy, dilated, PLN-related
The chain reaches the human disease dilated cardiomyopathy 1P, which Mondo defines as: “Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PLN gene.” It reaches 1 more human disease, listed below.
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
2 Mondo diseases.
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Human gene
Reached
1 human gene.
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Target evidence
Reached
2 Open Targets associations, with a best score of 0.64.
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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.
56.4 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.64 | 22.4 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 | 1 naturally occurring species entry marked as a defect. 1 genetically engineered entry is not counted | 4.0 of 10 |
47.9 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.54 | 18.9 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 | One route found this disease | 5.0 of 10 |
| Species | 1 naturally occurring species entry marked as a defect. 1 genetically engineered entry is not counted | 4.0 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:002195-9615 | Yes |
| pig Genetically engineered, not naturally occurring. Not counted in the score. | Sus scrofa | OMIA:002195-9823 | 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 | PLN phospholamban NCBI Gene 414755 | PLN Ensembl | one to one |
| pig | 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.
The two routes found some of the same diseases, but not all.
| Mondo disease | Name | Found by |
|---|---|---|
| MONDO:0012362 | dilated cardiomyopathy 1P Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PLN gene. | Both routes |
| MONDO:0013475 | hypertrophic cardiomyopathy 18 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PLN 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.
| Human gene | Human disease | Score | Evidence | Kinds of evidence |
|---|---|---|---|---|
| PLN | dilated cardiomyopathy 1P | 0.64 | 8 | Genetic literature 0.83 Animal model 0.44 |
| PLN | hypertrophic cardiomyopathy 18 | 0.54 | 6 | Genetic literature 0.87 Animal model 0.41 |
Drugs
No ChEMBL drug acts on a human gene of the group's target evidence.