Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:associatedWith |
gptkb:familial_platelet_disorder
gptkb:acute_myeloid_leukemia myelodysplastic syndrome |
| gptkbp:canBeFrameshift |
true
|
| gptkbp:canBeGermline |
true
|
| gptkbp:canBeMissense |
true
|
| gptkbp:canBeNonsense |
true
|
| gptkbp:canBeSomatic |
true
|
| gptkbp:canBeSpliceSite |
true
|
| gptkbp:cause |
increased risk of leukemia
|
| gptkbp:detects |
genetic testing
|
| https://www.w3.org/2000/01/rdf-schema#label |
RUNX1 mutation
|
| gptkbp:impact |
hematopoiesis
transcription factor function |
| gptkbp:OMIM |
151385
|
| gptkbp:regulates |
gptkb:RUNX1
|
| gptkbp:bfsParent |
gptkb:acute_myeloid_leukemia
|
| gptkbp:bfsLayer |
5
|