Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:associatedWith |
gptkb:acute_myeloid_leukemia
gptkb:T-cell_lymphoma myelodysplastic syndromes clonal hematopoiesis |
| gptkbp:detects |
gptkb:Sanger_sequencing
next-generation sequencing |
| gptkbp:discoveredIn |
2010
|
| https://www.w3.org/2000/01/rdf-schema#label |
DNMT3A mutation
|
| gptkbp:impact |
gene expression
DNA methylation epigenetic regulation hematopoietic stem cells |
| gptkbp:inheritance |
somatic
|
| gptkbp:mostCommonVariant |
R882H
|
| gptkbp:prevalenceInAML |
~20-25%
|
| gptkbp:prognosis |
poor
|
| gptkbp:regulates |
gptkb:DNMT3A
|
| gptkbp:typeOfMutation |
missense mutation
nonsense mutation frameshift mutation |
| gptkbp:bfsParent |
gptkb:NPM1_mutation
|
| gptkbp:bfsLayer |
6
|