Human disease
Angelman syndrome
Mondo defines it as: “A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features.”
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 |
|---|---|---|---|---|---|
| 2614 | Angelman syndrome | OMIA's OMIM numbers | 1 | Target evidence |
54.4
|
Human genes
Each human gene of these disease groups that Open Targets links to this disease.
| Human gene | Score | Evidence |
|---|---|---|
| UBE3A | 0.84 | 1,605 |
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 |
|---|---|---|
| Gaboxadol | None of these genes | Phase 3 |
| Obudanersen Sodium | None of these genes | Phase 3 |
| Rugonersen | None of these genes | Phase 3 |
| Levodopa | None of these genes | Phase 2/3 |
| Alogabat | None of these genes | Phase 2 |
| Minocycline | None of these genes | Phase 2 |
| Nnz-2591 | None of these genes | Phase 2 |
| Carbidopa Anhydrous | None of these genes | Phase 1 |
| Betaine | None of these genes | Unknown |
| Creatine | None of these genes | Unknown |
| Levomefolic Acid | None of these genes | Unknown |
| Obudanersen | None of these genes | Unknown |
| Rugonersen Sodium | None of these genes | Unknown |
| Vitamin B12 | None of these genes | Unknown |
The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.