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Browse result for paroxysmal nonkinesigenic dyskinesia 3
※ introduction A dystonia characterized by epilepsy and attacks of dystonic or choreathetotic movements, which may coexist or occur singly, that has_material_basis_in heterozygous mutation in the KCNMA1 gene on chromosome 10q22.
Reference
DiseaseOntology: paroxysmal nonkinesigenic dyskinesia 3
Reference
DiseaseOntology: paroxysmal nonkinesigenic dyskinesia 3
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD06371 | Q12791 | 3778 | KCNMA1 | Calcium-activated potassium channel subunit alpha-1 alpha) | Homo sapiens |