OMIA group 2967
Plasminogen activator inhibitor-1 deficiency, SERPINE1-related
The chain reaches the human disease congenital plasminogen activator inhibitor type 1 deficiency, which Mondo defines as: “Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency.”
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 1 species entry 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 0.69.
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Drugs
Reached
1 ChEMBL drug, 0 approved. None has been tested for this disease.
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.
75.5 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.69 | 24.0 of 35 |
| Drugs | A drug has reached phase 2/3 for this disease | 17.5 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 | 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:002967-9615 | 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 | SERPINE1 serpin family E member 1 NCBI Gene 403476 | SERPINE1 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: found a disease.
- OMIA's OMIM numbers: found a disease.
| Mondo disease | Name | Found by |
|---|---|---|
| MONDO:0013227 | congenital plasminogen activator inhibitor type 1 deficiency Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency. | 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 |
|---|---|---|---|---|
| SERPINE1 | congenital plasminogen activator inhibitor type 1 deficiency | 0.69 | 82 | Genetic literature 0.77 Genetic association 0.66 |
Drugs
Drugs act on SERPINE1, but none has been tested for this disease.
| Drug | Acts on | How | Latest stage | Tested for this disease |
|---|---|---|---|---|
| Aleplasinin | SERPINE1 | inhibitor | Phase 1 | No |
The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.