Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.600 GeneticVariation disease BEFREE Effect of CALR and JAK2 mutations on the clinical and hematological phenotypes of the disease in patients with myelofibrosis - long-term experience from a single center. 29534592 2019
Entrez Id: 811
Gene Symbol: CALR
CALR
0.600 GeneticVariation disease BEFREE AML transformation occurred faster in SMF than in PMF and patients who transformed to AML were more SRSF2-mutated and less CALR-mutated at MF sampling. 31340059 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.600 GeneticVariation disease BEFREE A JAK2 variant in addition to JAK2 V617F (n = 13) in myelofibrosis was associated with an increased cumulative risk of transformation into AML (P = .003). 30811597 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.600 GeneticVariation disease BEFREE With the advent of targeted therapies, such as the Janus kinase inhibitors, many patients have experienced substantial clinical benefits, including reduction in splenomegaly and symptoms and, in some instances, improvement or stabilization of bone marrow fibrosis and reduction of JAK2 V617F allele burden. 30343328 2019
Entrez Id: 811
Gene Symbol: CALR
CALR
0.600 GeneticVariation disease BEFREE Effect of CALR and JAK2 mutations on the clinical and hematological phenotypes of the disease in patients with myelofibrosis - long-term experience from a single center. 29534592 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.600 Biomarker disease BEFREE Treatment of patients with myelofibrosis with the type I JAK (Janus kinase) inhibitor ruxolitinib paradoxically induces JAK2 activation loop phosphorylation and is associated with a life-threatening cytokine-rebound syndrome if rapidly withdrawn. 30498775 2018
Entrez Id: 811
Gene Symbol: CALR
CALR
0.600 GeneticVariation disease BEFREE We developed a time-dependent assay to mimic ruxolitinib withdrawal in primary JAK2<sup>V617F</sup> and CALR mutant myelofibrosis patient samples and observed notable activation of spontaneous STAT signaling in JAK2<sup>V617F</sup> samples after drug washout. 30498775 2018
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.600 Biomarker disease BEFREE To compare the efficacy and safety of JAK2 inhibitor pacritinib with that of best available therapy (BAT), including ruxolitinib, in patients with myelofibrosis and thrombocytopenia. 29522138 2018
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.600 GeneticVariation disease BEFREE One-hundred Mayo Clinic patients with high/intermediate-risk myelofibrosis (MF) received momelotinib (MMB; JAK1/2 inhibitor) between 2009 and 2010, as part of a phase 1/2 trial (NCT00935987); 73% harbored JAK2 mutations, 16% CALR, 7% MPL, 44% ASXL1, and 18% SRSF2. 29515114 2018
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.600 Biomarker disease BEFREE Ruxolitinib, a potent oral JAK1/JAK2 inhibitor remains the only Food and Drug Administration (FDA)-approved medicinal therapy for the treatment of MF. 29480036 2018
Entrez Id: 811
Gene Symbol: CALR
CALR
0.600 GeneticVariation disease BEFREE Key differences from the 2011 diagnostic recommendations included: lower threshold values for hemoglobin and hematocrit and bone marrow examination for diagnosis of polycythemia vera (PV), according to the revised WHO criteria; the search for complementary clonal markers, such as ASXL1, EZH2, IDH1/IDH2, and SRSF2 for the diagnosis of myelofibrosis (MF) in patients who test negative for JAK2V617, CALR or MPL driver mutations. 29515238 2018
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.600 Biomarker disease BEFREE We investigated the therapeutic potential of ruxolitinib, a JAK1/JAK2 inhibitor that has been FDA-approved for the treatment of myelofibrosis, to treat ovarian cancer either alone or in combination with conventional chemotherapy agents. 29849942 2018
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.600 GeneticVariation disease BEFREE JAK2 V617F mutation in plasma cell-free DNA preceding clinically overt myelofibrosis: Implications for early diagnosis. 29565699 2018
Entrez Id: 811
Gene Symbol: CALR
CALR
0.600 GeneticVariation disease BEFREE One-hundred Mayo Clinic patients with high/intermediate-risk myelofibrosis (MF) received momelotinib (MMB; JAK1/2 inhibitor) between 2009 and 2010, as part of a phase 1/2 trial (NCT00935987); 73% harbored JAK2 mutations, 16% CALR, 7% MPL, 44% ASXL1, and 18% SRSF2. 29515114 2018
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.600 GeneticVariation disease BEFREE Overall response rates (ORRs) in patients with JAK2 V617F-mutated PV, ET, and MF were 95%, 90.5%, and 9.1%, respectively, while patients with ET and MF without the JAK2 V617F mutations had ORRs of 43.7% and 0%, respectively. 30025280 2018
Entrez Id: 811
Gene Symbol: CALR
CALR
0.600 GeneticVariation disease BEFREE Mutant calreticulin knockin mice develop thrombocytosis and myelofibrosis without a stem cell self-renewal advantage. 29282219 2018
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.600 Biomarker disease BEFREE In this report, we discuss the clinical history, pathological evaluation, and genomics findings in a patient with JAK2-positive myelofibrosis who developed a secondary myelodysplasia after hematopoietic stem cell transplantation and JAK1/2 inhibitor treatment. 30097215 2018
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.600 GeneticVariation disease BEFREE JAK2 allele burdens were significantly lower among AYA JAK2V617F-mutated patients in both PV (p = 0.001) and MF (p = 0.005). 29143068 2018
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.600 Biomarker disease BEFREE Among JAK2 inhibitors, ruxolitinib (RUX) has been approved for (1) treatment of intermediate-2 and high-risk MF and (2) PV patients who are resistant to or intolerant to hydroxyurea. 30074114 2018
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.600 Biomarker disease BEFREE We assessed the efficacy and safety of momelotinib, a JAK 1 and JAK 2 inhibitor, versus best available therapy (BAT) in patients with myelofibrosis who had suboptimal responses or haematological toxic effects with ruxolitinib. 29275119 2018
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.600 Biomarker disease BEFREE JAK2-inhibitors and stem cell transplant are the two critical therapeutic approaches in myelofibrosis. 29713873 2018
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.600 Biomarker disease BEFREE HSP27 is a partner of JAK2-STAT5 and a potential therapeutic target in myelofibrosis. 29650953 2018
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.600 Biomarker disease BEFREE Ruxolitinib is a potent JAK1/JAK2 inhibitor that has demonstrated durable improvements in splenomegaly, symptoms, and overall survival in controlled clinical trials in patients with myelofibrosis. 27832516 2017
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.600 Biomarker disease BEFREE Ruxolitinib is an oral Janus-activated kinase 1 (JAK1)/JAK2 inhibitor approved for the treatment of patients with myelofibrosis based on the results of two randomized clinical trials. 27740634 2017
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.600 Biomarker disease BEFREE Combined Janus kinase 1 (JAK1) and JAK2 inhibition therapy effectively reduces splenomegaly and symptom burden related to myelofibrosis but is associated with dose-dependent anemia and thrombocytopenia. 27789678 2017