Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affectedGene |
gptkb:TBP
|
| gptkbp:alsoKnownAs |
gptkb:SCA17
Spinocerebellar ataxia type 17 |
| gptkbp:category |
neurodegenerative disease
trinucleotide repeat disorder |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
2001
|
| https://www.w3.org/2000/01/rdf-schema#label |
HDL4 (SCA17)
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:locatedOnChromosome |
gptkb:6q27
|
| gptkbp:mutationAssociatedWith |
gptkb:TBP_gene
|
| gptkbp:OMIM |
607136
|
| gptkbp:onset |
adulthood
|
| gptkbp:progression |
progressive
|
| gptkbp:proteinAffected |
gptkb:TATA_box_binding_protein
|
| gptkbp:repeatExpansionType |
CAG/CAA repeat expansion
|
| gptkbp:symptom |
gptkb:dementia
ataxia chorea psychiatric symptoms |
| gptkbp:treatment |
symptomatic management
|
| gptkbp:bfsParent |
gptkb:Huntington's_disease-like_syndrome
|
| gptkbp:bfsLayer |
7
|