Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
gptkb:FUS_gene
|
| gptkbp:amendedBy |
FUS protein function
|
| gptkbp:associatedWith |
amyotrophic lateral sclerosis
frontotemporal dementia |
| gptkbp:canBe |
missense mutation
nonsense mutation frameshift mutation splice site mutation |
| gptkbp:cause |
motor neuron degeneration
cytoplasmic mislocalization of FUS protein neuronal inclusions |
| gptkbp:detects |
genetic testing
|
| gptkbp:firstDescribed |
2009
|
| https://www.w3.org/2000/01/rdf-schema#label |
FUS gene mutation
|
| gptkbp:impact |
DNA repair
RNA binding |
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:locatedOnChromosome |
gptkb:16p11.2
|
| gptkbp:bfsParent |
gptkb:familial_ALS
|
| gptkbp:bfsLayer |
6
|