Statements (18)
Predicate | Object |
---|---|
gptkbp:instanceOf |
genetic disorder
|
gptkbp:aminoAcidChange |
aspartic acid to valine at position 816
|
gptkbp:associatedWith |
gptkb:gastrointestinal_stromal_tumor
gptkb:systemic_mastocytosis gptkb:acute_myeloid_leukemia |
gptkbp:codonChange |
GAC to GTC
|
gptkbp:detects |
PCR
next-generation sequencing |
https://www.w3.org/2000/01/rdf-schema#label |
KIT D816V mutation
|
gptkbp:location |
exon 17 of KIT gene
|
gptkbp:mutationAssociatedWith |
missense mutation
|
gptkbp:regulates |
gptkb:KIT
|
gptkbp:resistantTo |
gptkb:imatinib
|
gptkbp:sensitivity |
gptkb:avapritinib
gptkb:midostaurin |
gptkbp:significance |
pathogenic
|
gptkbp:bfsParent |
gptkb:systemic_mastocytosis
|
gptkbp:bfsLayer |
6
|