OMIA group 1243
Alkaptonuria
The chain reaches the human disease alkaptonuria, which Mondo defines as: “A metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy).”
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 6 species entries 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 0.84.
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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.
89.6 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.84 | 29.6 of 35 |
| Drugs | A drug has reached phase 3 for this disease | 20.0 of 25 |
| Ortholog | One to one ortholog | 20.0 of 20 |
| Both routes | Both routes found this disease | 10.0 of 10 |
| Species | 6 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 |
|---|---|---|---|
| Bornean orangutan | Pongo pygmaeus | OMIA:001243-9600 | Yes |
| chimpanzee | Pan troglodytes | OMIA:001243-9598 | Yes |
| crab-eating macaque | Macaca fascicularis | OMIA:001243-9541 | Yes |
| domestic cat | Felis catus | OMIA:001243-9685 | Yes |
| rabbit | Oryctolagus cuniculus | OMIA:001243-9986 | Yes |
| Sumatran orangutan | Pongo abelii | OMIA:001243-9601 | 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 |
|---|---|---|---|
| Bornean orangutan | No gene | OMIA records no gene for this species entry. | |
| chimpanzee | No gene | OMIA records no gene for this species entry. | |
| crab-eating macaque | No gene | OMIA records no gene for this species entry. | |
| domestic cat | No gene | OMIA records no gene for this species entry. | |
| rabbit | No gene | OMIA records no gene for this species entry. | |
| Sumatran orangutan | HGD homogentisate 1,2-dioxygenase NCBI Gene 100171592 | HGD 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:0008753 | alkaptonuria A metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy). | 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 |
|---|---|---|---|---|
| HGD | alkaptonuria | 0.84 | 921 | Genetic association 0.95 Genetic literature 0.72 Literature 0.46 |
Drugs
No ChEMBL drug acts on a human gene of the group's target evidence.