Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:altersProteinFunction |
constitutive kinase activation
|
| gptkbp:associatedWith |
gptkb:polycythemia_vera
essential thrombocythemia primary myelofibrosis |
| gptkbp:diagnosticMarkerFor |
myeloproliferative neoplasms
|
| gptkbp:discoveredIn |
2005
|
| gptkbp:frequencyInEssentialThrombocythemia |
~50-60%
|
| gptkbp:frequencyInPolycythemiaVera |
~95%
|
| gptkbp:frequencyInPrimaryMyelofibrosis |
~50-60%
|
| gptkbp:grapeVariety |
gptkb:V617F
|
| https://www.w3.org/2000/01/rdf-schema#label |
JAK2 mutation
|
| gptkbp:inheritance |
somatic
|
| gptkbp:locatedOnChromosome |
gptkb:9p24.1
|
| gptkbp:OMIM |
614521
|
| gptkbp:pathogenicMechanism |
gptkb:JAK-STAT_pathway_activation
|
| gptkbp:regulates |
gptkb:JAK2
|
| gptkbp:targetOfDrug |
gptkb:fedratinib
gptkb:ruxolitinib |
| gptkbp:testingMethod |
PCR
DNA sequencing |
| gptkbp:bfsParent |
gptkb:Osler-Vaquez_disease
|
| gptkbp:bfsLayer |
5
|