Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:affects |
gptkb:cerebellum
|
| gptkbp:associatedWith |
neurodegenerative disease
spinocerebellar ataxia |
| gptkbp:discoveredIn |
1990s
|
| gptkbp:encodes |
various proteins depending on subtype
|
| gptkbp:example |
gptkb:SCA17
gptkb:SCA1 gptkb:SCA2 gptkb:SCA3 gptkb:SCA6 gptkb:SCA7 |
| https://www.w3.org/2000/01/rdf-schema#label |
Spinocerebellar ataxia gene
|
| gptkbp:inheritsFrom |
autosomal dominant
|
| gptkbp:locatedOnChromosome |
varies by subtype
|
| gptkbp:mutationAssociatedWith |
trinucleotide repeat expansion
|
| gptkbp:OMIM |
164400
|
| gptkbp:relatedTo |
gptkb:CACNA1A
gptkb:ataxin-3 ataxin-1 ataxin-2 |
| gptkbp:bfsParent |
gptkb:SCA_(gene)
|
| gptkbp:bfsLayer |
7
|