spinocerebellar ataxia type 16
GPTKB entity
Statements (13)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
gptkb:spinocerebellar_ataxia |
| gptkbp:affects |
gptkb:cerebellum
|
| gptkbp:causedBy |
mutation in the STUB1 gene
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
607458
|
| gptkbp:onset |
adult
|
| gptkbp:symptom |
ataxia
gait disturbance dysarthria |
| gptkbp:bfsParent |
gptkb:CHIP
|
| gptkbp:bfsLayer |
6
|
| https://www.w3.org/2000/01/rdf-schema#label |
spinocerebellar ataxia type 16
|