OMIA group 1258
Obesity
The chain reaches the human disease obesity due to congenital leptin deficiency, which Mondo defines as: “Congenital leptin deficiency is a form of monogenic obesity characterized by severe early-onset obesity and marked hyperphagia.”
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 7 species entries marked as a defect.
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Human disease
Reached
1 Mondo disease.
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Human gene
Reached
3 human genes.
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Target evidence
Reached
2 Open Targets associations, with a best score of 0.05.
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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.
41.8 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.05 | 1.8 of 35 |
| Drugs | A drug has reached unknown for this disease | 5.0 of 25 |
| Ortholog | One to one ortholog | 20.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 7 naturally occurring species entries marked as a defect | 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 |
|---|---|---|---|
| crab-eating macaque | Macaca fascicularis | OMIA:001258-9541 | Yes |
| dog | Canis lupus familiaris | OMIA:001258-9615 | Yes |
| domestic cat | Felis catus | OMIA:001258-9685 | Yes |
| horse | Equus caballus | OMIA:001258-9796 | Yes |
| pig Naturally occurring, and also genetically engineered. | Sus scrofa | OMIA:001258-9823 | Yes |
| rabbit | Oryctolagus cuniculus | OMIA:001258-9986 | Yes |
| sheep | Ovis aries | OMIA:001258-9940 | 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 | No gene | OMIA records no gene for this species entry. | |
| dog | ADCY3 adenylate cyclase 3 NCBI Gene 482994 | ADCY3 Ensembl | one to one |
| dog | DENND1B DENN domain containing 1B NCBI Gene 490259 | DENND1B Ensembl | one to one |
| dog | POMC proopiomelanocortin NCBI Gene 403659 | POMC Ensembl | one to one |
| domestic cat | No gene | OMIA records no gene for this species entry. | |
| horse | No gene | OMIA records no gene for this species entry. | |
| pig | No gene | OMIA records no gene for this species entry. | |
| rabbit | No gene | OMIA records no gene for this species entry. | |
| sheep | 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: OMIA links the group to no Mondo disease.
- OMIA's OMIM numbers: found a disease.
| Mondo disease | Name | Found by |
|---|---|---|
| MONDO:0013991 | obesity due to congenital leptin deficiency Congenital leptin deficiency is a form of monogenic obesity characterized by severe early-onset obesity and marked hyperphagia. | 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 |
|---|---|---|---|---|
| POMC | obesity due to congenital leptin deficiency | 0.05 | 4 | Animal model 0.42 |
| ADCY3 | obesity due to congenital leptin deficiency | 0.04 | 2 | Animal model 0.36 |
Drugs
No ChEMBL drug acts on a human gene of the group's target evidence.