Statements (13)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:associatedWith |
gptkb:erythrocytosis
gptkb:polycythemia_vera |
| gptkbp:cause |
constitutive activation of JAK-STAT pathway
|
| gptkbp:diagnosedBy |
molecular genetic testing
|
| gptkbp:discoveredIn |
2007
|
| gptkbp:frequencyInPolycythemiaVera |
2-5%
|
| https://www.w3.org/2000/01/rdf-schema#label |
JAK2 exon 12 mutation
|
| gptkbp:location |
exon 12
|
| gptkbp:mutationAssociatedWith |
gain-of-function
|
| gptkbp:regulates |
gptkb:JAK2
|
| gptkbp:bfsParent |
gptkb:polycythemia_vera
|
| gptkbp:bfsLayer |
6
|