OMIA group 279
Diabetes mellitus
The chain reaches the human disease maternally-inherited diabetes and deafness, which Mondo defines as: “Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.” It reaches 6 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 11 species entries marked as a defect.
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Human disease
Reached
7 Mondo diseases.
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Human gene
Reached
1 human gene.
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Target evidence
Reached
4 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.
65.7 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.73 | 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 | 10 naturally occurring species entries marked as a defect. 1 genetically engineered entry is not counted | 10.0 of 10 |
60.7 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.59 | 20.7 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 | 10 naturally occurring species entries marked as a defect. 1 genetically engineered entry is not counted | 10.0 of 10 |
30.9 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.02 | 0.9 of 35 |
| Drugs | A drug has reached phase 2 for this disease | 15.0 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 | 10 naturally occurring species entries marked as a defect. 1 genetically engineered entry is not counted | 10.0 of 10 |
15.4 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.01 | 0.4 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 | 10 naturally occurring species entries marked as a defect. 1 genetically engineered entry is not counted | 10.0 of 10 |
15.0 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 | 10 naturally occurring species entries marked as a defect. 1 genetically engineered entry is not counted | 10.0 of 10 |
15.0 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 | 10 naturally occurring species entries marked as a defect. 1 genetically engineered entry is not counted | 10.0 of 10 |
15.0 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 | 10 naturally occurring species entries marked as a defect. 1 genetically engineered entry is not counted | 10.0 of 10 |
Species
The chain follows only the species entries that OMIA marks as a defect.
| Species | Scientific name | OMIA entry | A defect |
|---|---|---|---|
| birds | Aves | OMIA:000279-8782 | Yes |
| crab-eating macaque | Macaca fascicularis | OMIA:000279-9541 | Yes |
| dog | Canis lupus familiaris | OMIA:000279-9615 | Yes |
| domestic cat | Felis catus | OMIA:000279-9685 | Yes |
| domestic cattle | Bos taurus | OMIA:000279-9913 | Yes |
| domestic guinea pig | Cavia porcellus | OMIA:000279-10141 | Yes |
| horse | Equus caballus | OMIA:000279-9796 | Yes |
| koala | Phascolarctos cinereus | OMIA:000279-38626 | Yes |
| long-tailed chinchilla | Chinchilla lanigera | OMIA:000279-34839 | Yes |
| pig Genetically engineered, not naturally occurring. Not counted in the score. | Sus scrofa | OMIA:000279-9823 | Yes |
| rabbit Naturally occurring, and also genetically engineered. | Oryctolagus cuniculus | OMIA:000279-9986 | 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 |
|---|---|---|---|
| birds | No gene | OMIA records no gene for this species entry. | |
| crab-eating macaque | No gene | OMIA records no gene for this species entry. | |
| dog | No gene | OMIA records no gene for this species entry. | |
| domestic cat | No gene | OMIA records no gene for this species entry. | |
| domestic cattle | No gene | OMIA records no gene for this species entry. | |
| domestic guinea pig | No gene | OMIA records no gene for this species entry. | |
| horse | No gene | OMIA records no gene for this species entry. | |
| koala | No gene | OMIA records no gene for this species entry. | |
| long-tailed chinchilla | No gene | OMIA records no gene for this species entry. | |
| pig | INS insulin NCBI Gene 397415 | INS Ensembl | one to one |
| rabbit | GCK glucokinase (hexokinase 4) NCBI Gene 100341946 | 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:0010785 | maternally-inherited diabetes and deafness Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness. | OMIA's OMIM numbers |
| MONDO:0007452 | maturity-onset diabetes of the young type 1 Monogenic diabetes caused by inactivating mutation(s) in the gene HNF4A, encoding hepatocyte nuclear factor 4-alpha. | OMIA's OMIM numbers |
| MONDO:0007453 | maturity-onset diabetes of the young type 2 Monogenic diabetes caused by inactivating mutation(s) in the GCK gene, encoding glucokinase. Heterozygous GCK mutations may manifest as mild hyperglycemia, which is not progressive, and usually requires no treatment. Homozygous GCK mutations result in permanent neonatal diabetes. | OMIA's OMIM numbers |
| MONDO:0005147 | type 1 diabetes mellitus A chronic condition characterized by minimal or absent production of insulin by the pancreas. | OMIA's OMIM numbers |
| MONDO:0007454 | type 1 diabetes mellitus 2 An inherited susceptibility or predisposition to developing type 1 diabetes mellitus in which the cause of the disease is a mutation in the INS 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 |
| MONDO:0009101 | Wolfram syndrome 1 Any Wolfram syndrome in which the cause of the disease is a mutation in the WFS1 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 |
|---|---|---|---|---|
| INS | type 1 diabetes mellitus | 0.73 | 29,547 | Literature 0.99 Genetic literature 0.87 Genetic association 0.81 Animal model 0.76 |
| INS | type 2 diabetes mellitus | 0.59 | 59,656 | Literature 0.99 Genetic association 0.70 Animal model 0.58 |
| INS | maternally-inherited diabetes and deafness | 0.02 | 55 | Literature 0.20 |
| INS | maturity-onset diabetes of the young type 2 | 0.01 | 17 | Literature 0.08 |
Drugs
No ChEMBL drug acts on a human gene of the group's target evidence.