Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
gptkb:TARDBP_gene
|
| gptkbp:amendedBy |
TDP-43 protein
|
| gptkbp:associatedWith |
amyotrophic lateral sclerosis
frontotemporal dementia |
| gptkbp:canBe |
missense mutation
nonsense mutation frameshift mutation splice site mutation |
| gptkbp:cause |
neurodegenerative disease
TDP-43 proteinopathy |
| gptkbp:detects |
genetic testing
|
| gptkbp:firstDescribed |
2008
|
| gptkbp:foundIn |
gptkb:familial_ALS
gptkb:sporadic_ALS |
| https://www.w3.org/2000/01/rdf-schema#label |
TARDBP gene mutation
|
| gptkbp:impact |
protein aggregation
neuronal survival RNA processing |
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:locatedOnChromosome |
chromosome 1
|
| gptkbp:bfsParent |
gptkb:familial_ALS
|
| gptkbp:bfsLayer |
6
|