Human disease
Scott syndrome
Mondo defines it as: “A blood coagulation disorder caused by a variant in the ANO6 gene, characterized by impaired externalization of phosphatidylserine on activated platelets, resulting in a reduced procoagulant platelet surface, diminished thrombin generation, and mucocutaneous bleeding. Platelet counts and morphology are generally normal, but affected individuals show markedly reduced platelet procoagulant activity with defective membrane scrambling in response to calcium‑dependent stimuli.”
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 |
|---|---|---|---|---|---|
| 1353 | Scott syndrome | Both routes | 1 | Target evidence |
59.0
|
Human genes
Each human gene of these disease groups that Open Targets links to this disease.
| Human gene | Score | Evidence |
|---|---|---|
| ANO6 | 0.71 | 87 |
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.
No drug has been tested for this disease.