Human disease
alkaptonuria
Mondo defines it 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).”
1 disease group in OMIA reaches this disease, through OMIA's own Mondo link or its OMIM numbers. The page shows the chain. It does not say whether an animal is a model of this disease.
Animal diseases
By natural-model score for this disease, highest first. The score says how complete and how well supported each chain is, by stated rules. How the score works.
| OMIA group | Name | Found by | Species | The chain reached | Score |
|---|---|---|---|---|---|
| 1243 | Alkaptonuria | Both routes | 6 | Target evidence |
89.6
|
Human genes
Each human gene of these disease groups that Open Targets links to this disease.
| Human gene | Score | Evidence |
|---|---|---|
| HGD | 0.84 | 921 |
Drugs tested for this disease
Each ChEMBL drug that has been tested for this disease, and the human genes above it acts on, if any. Open Targets gives some drugs, such as most enzyme replacement therapies, no target gene.
| Drug | Acts on | Latest stage for this disease |
|---|---|---|
| Nitisinone | None of these genes | Phase 3 |
The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.