Statements (13)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alsoKnownAs |
gptkb:C9orf72
|
gptkbp:associatedWith |
amyotrophic lateral sclerosis
frontotemporal dementia |
gptkbp:discoveredIn |
2011
|
gptkbp:geneProduct |
gptkb:C9orf72_protein
|
https://www.w3.org/2000/01/rdf-schema#label |
ALSFTD2
|
gptkbp:inheritance |
autosomal dominant
|
gptkbp:locatedOnChromosome |
gptkb:chromosome_9
|
gptkbp:mutationAssociatedWith |
hexanucleotide repeat expansion
|
gptkbp:OMIM |
614260
|
gptkbp:bfsParent |
gptkb:C9orf72_(human)
|
gptkbp:bfsLayer |
7
|