Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
apoptosis
cell differentiation cell proliferation |
| gptkbp:associatedWith |
gptkb:cancer
gptkb:head_and_neck_squamous_cell_carcinoma gptkb:T-cell_acute_lymphoblastic_leukemia chronic lymphocytic leukemia |
| gptkbp:canAlter |
NOTCH1 protein function
|
| gptkbp:canBeGermline |
true
|
| gptkbp:canBeSomatic |
true
|
| gptkbp:cause |
oncogenesis
aberrant NOTCH1 signaling |
| gptkbp:detects |
PCR
DNA sequencing |
| https://www.w3.org/2000/01/rdf-schema#label |
NOTCH1 mutation
|
| gptkbp:regulates |
gptkb:NOTCH1
|
| gptkbp:typeOfMutation |
missense mutation
nonsense mutation frameshift mutation |
| gptkbp:bfsParent |
gptkb:T-cell_ALL
|
| gptkbp:bfsLayer |
6
|