OMIA group 3069
Diabetes mellitus, PAX4-related
The chain reaches the human disease diabetes mellitus, ketosis-prone, which Mondo defines as: “An inherited susceptibility or predisposition to developing diabetes mellitus, ketosis.” 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.
-
Animal disease
Reached
OMIA records it in 1 species entry marked as a defect.
-
Human disease
Reached
3 Mondo diseases.
-
Human gene
Reached
1 human gene.
-
Target evidence
Reached
2 Open Targets associations, with a best score of 0.74.
-
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.
55.7 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.74 | 25.7 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. 1 genetically engineered entry is not counted | 0.0 of 10 |
19.4 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.41 | 14.4 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. 1 genetically engineered entry is not counted | 0.0 of 10 |
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. 1 genetically engineered entry is 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:003069-9823 | 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 |
|---|---|---|---|
| pig | PAX4 paired box 4 NCBI Gene 100523579 | PAX4 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:0100180 | diabetes mellitus, ketosis-prone An inherited susceptibility or predisposition to developing diabetes mellitus, ketosis. | OMIA's OMIM numbers |
| MONDO:0012818 | maturity-onset diabetes of the young type 9 Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the PAX4 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 |
|---|---|---|---|---|
| PAX4 | type 2 diabetes mellitus | 0.74 | 209 | Genetic association 0.81 Literature 0.69 Genetic literature 0.36 |
| PAX4 | maturity-onset diabetes of the young type 9 | 0.41 | 47 | Genetic association 0.67 Literature 0.20 |
Drugs
No ChEMBL drug acts on a human gene of the group's target evidence.