Statements (22)
Predicate | Object |
---|---|
gptkbp:instanceOf |
genetic disorder
|
gptkbp:affects |
gptkb:NPM1_gene
|
gptkbp:associatedWith |
gptkb:acute_myeloid_leukemia
|
gptkbp:cause |
cytoplasmic localization of NPM1 protein
|
gptkbp:co-occursWith |
gptkb:DNMT3A_mutation
gptkb:FLT3-ITD_mutation |
gptkbp:commonIn |
adult AML
pediatric AML |
gptkbp:detects |
PCR
sequencing |
gptkbp:firstDescribed |
2005
|
gptkbp:frequencyInAML |
~30%
|
https://www.w3.org/2000/01/rdf-schema#label |
NPM1 mutation
|
gptkbp:impact |
myeloid differentiation
|
gptkbp:includedIn |
gptkb:WHO_classification_of_myeloid_neoplasms
|
gptkbp:OMIM |
164040
|
gptkbp:prognosticSignificance |
favorable prognosis in absence of FLT3-ITD
|
gptkbp:target |
minimal residual disease monitoring
|
gptkbp:type |
frameshift mutation in exon 12
|
gptkbp:usedFor |
risk stratification in AML
|
gptkbp:bfsParent |
gptkb:acute_myeloid_leukemia
|
gptkbp:bfsLayer |
5
|