Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb: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%
|
| 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
|
| https://www.w3.org/2000/01/rdf-schema#label |
NPM1 mutation
|