Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.090 GeneticVariation disease BEFREE The V617F JAK2 mutation was absent within the patients with secondary erythrocytosis or thrombocytosis. 19939582 2011
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.090 GeneticVariation disease BEFREE Therefore, in a patient with acquired erythrocytosis, it is reasonable to begin the diagnostic work-up with JAK2 mutation analysis to distinguish PV from secondary erythrocytosis. 20237866 2010
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.090 GeneticVariation disease BEFREE Therefore, in a patient with acquired erythrocytosis, it is reasonable to begin the diagnostic work-up with peripheral blood JAK2 mutation analysis and serum Epo measurement to distinguish PV from secondary erythrocytosis. 19295544 2009
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.090 GeneticVariation disease BEFREE Therefore, current diagnostic work-up for acquired polycythemia should start with peripheral blood JAK2 mutation screening, whereas VHL and/or EPOR mutations should be considered when CP is suspected. 17493421 2007
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.090 GeneticVariation disease BEFREE We could confirm a very high sensitivity, specificity and utility of the Jak2(V617F) mutation for differential diagnosis between PV and SE. 17852451 2007
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.090 GeneticVariation disease BEFREE However, until the recent description of the constitutively activating V617F point mutation of the Janus 2 tyrosine kinase (JAK2)--a high-frequency molecular marker that is extremely specific for clonal chronic myeloproliferative disorders--distinction of PV from secondary erythrocytosis or other conditions has often been difficult. 16827884 2006
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.090 GeneticVariation disease BEFREE JAK2 mutation was not detected in Ph+ chronic myeloid leukemia (n = 5), acute myeloid leukemia (n = 10), acute lymphoblastic leukemia (n = 10), secondary erythrocytosis (n = 10), or normal bone marrow (n = 10). 16645202 2006
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.090 GeneticVariation disease BEFREE Additionally, JAK2 mutation was detected in each one patient with secondary polycythemia and reactive thrombocytosis. 17249502 2006
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.090 GeneticVariation disease BEFREE However, compared with the PRV-1 assay, mutation screening for JAK2(V617F) displayed greater accuracy in distinguishing PV from SP. 16197445 2005