OMIA group 2552
Pancreatic agenesis, PDX1-related
The chain reaches the human disease maturity-onset diabetes of the young type 4, which Mondo defines as: “Monogenic diabetes caused by inactivating mutation(s) in the PDX1 gene, encoding pancreas/duodenum homeobox protein 1. Homozygous PDX1 mutations result in permanent neonatal diabetes.” It reaches 2 more human diseases, 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 3 species entries marked as a defect.
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Human disease
Reached
3 Mondo diseases.
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Human gene
Reached
1 human gene.
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Target evidence
Reached
3 Open Targets associations, with a best score of 0.73.
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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.
51.1 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.60 | 21.1 of 35 |
| Drugs | A drug has reached approved for this disease | 25.0 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 |
30.4 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.73 | 25.4 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 |
29.7 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.71 | 24.7 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 |
|---|---|---|---|
| crab-eating macaque Genetically engineered, not naturally occurring. Not counted in the score. | Macaca fascicularis | OMIA:002552-9541 | Yes |
| pig Genetically engineered, not naturally occurring. Not counted in the score. | Sus scrofa | OMIA:002552-9823 | Yes |
| sheep Genetically engineered, not naturally occurring. Not counted in the score. | Ovis aries | OMIA:002552-9940 | 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 |
|---|---|---|---|
| crab-eating macaque | PDX1 pancreatic and duodenal homeobox 1 NCBI Gene 102140063 | Ensembl does not know this NCBI Gene identifier. | |
| pig | PDX1 pancreatic and duodenal homeobox 1 NCBI Gene 397288 | PDX1 Ensembl | one to one |
| sheep | PDX1 pancreatic and duodenal homeobox 1 NCBI Gene 101113082 | Ensembl does not know this NCBI Gene identifier. | |
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:0011667 | maturity-onset diabetes of the young type 4 Monogenic diabetes caused by inactivating mutation(s) in the PDX1 gene, encoding pancreas/duodenum homeobox protein 1. Homozygous PDX1 mutations result in permanent neonatal diabetes. | OMIA's OMIM numbers |
| MONDO:0024547 | pancreatic agenesis 1 Any pancreatic agenesis in which the cause of the disease is a mutation in the PDX1 gene. | OMIA's OMIM numbers |
| MONDO:0005148 | type 2 diabetes mellitus A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity. | 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 |
|---|---|---|---|---|
| PDX1 | pancreatic agenesis 1 | 0.73 | 75 | Genetic association 0.88 Genetic literature 0.77 Animal model 0.54 |
| PDX1 | maturity-onset diabetes of the young type 4 | 0.71 | 131 | Genetic association 0.89 Genetic literature 0.87 Animal model 0.84 Somatic mutation 0.43 Literature 0.13 |
| PDX1 | type 2 diabetes mellitus | 0.60 | 519 | Literature 0.68 Genetic association 0.66 Genetic literature 0.61 Animal model 0.59 |
Drugs
No ChEMBL drug acts on a human gene of the group's target evidence.