Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:associatedWith |
amyotrophic lateral sclerosis
frontotemporal dementia |
| gptkbp:cause |
neurodegeneration
dipeptide repeat proteins toxic RNA foci |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:discoveredIn |
2011
|
| gptkbp:firstReported |
gptkb:DeJesus-Hernandez_et_al.
gptkb:Renton_et_al. |
| https://www.w3.org/2000/01/rdf-schema#label |
C9orf72 gene mutation
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:locatedIn |
gptkb:C9orf72_gene
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_9
|
| gptkbp:mutationAssociatedWith |
hexanucleotide repeat expansion
|
| gptkbp:OMIM |
614260
|
| gptkbp:prevalence |
most common genetic cause of ALS and FTD
|
| gptkbp:repeatExpansionThreshold |
more than 30 repeats
|
| gptkbp:repeatSequence |
GGGGCC
|
| gptkbp:riskFactor |
gptkb:familial_ALS
familial FTD |
| gptkbp:bfsParent |
gptkb:familial_ALS
|
| gptkbp:bfsLayer |
6
|