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 JAK2 V617F was detected in 89 (61%) patients with ET, 103 (86%) with PV, four (33%) with myelofibrosis, and four (80%) with MPNu. 19277418 2009
Entrez Id: 4982
Gene Symbol: TNFRSF11B
TNFRSF11B
0.030 Biomarker disease BEFREE Osteoprotegerin abrogated cortical porosity and bone marrow fibrosis in a mouse model of constitutive activation of the PTH/PTHrP receptor. 19389927 2009
Entrez Id: 54790
Gene Symbol: TET2
TET2
0.340 GeneticVariation disease BEFREE TET2 mutations were mainly observed (10 of 12) in patients with primary myelofibrosis or patients with polycythemia vera or essential thrombocythemia who secondarily evolved toward myelofibrosis or acute myeloid leukemia. 19564637 2009
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.600 GeneticVariation disease BEFREE JAK2 mutation status was restricted to positive findings to exclude reactive myelofibrosis. 20425436 2009
Entrez Id: 7058
Gene Symbol: THBS2
THBS2
0.010 AlteredExpression disease BEFREE TSP-2 was barely detectable but 40% of cases with advanced myelofibrosis showed a strong expression. 20625903 2011
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
0.020 AlteredExpression disease BEFREE VEGF expression parallelled VEGFR-1 and resulted increased in Ph- MPNs (NCs: 0.08±0.04; ET: 0.13±0.06; PV: 0.29±0.2; PMF: 0.31±0.15) and higher in post-polycythaemic myelofibrosis and in the fibrotic stage of PMF than in the non-fibrotic phases of both diseases. 21217153 2011
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
0.010 GeneticVariation disease BEFREE EZH2 mutational status predicts poor survival in myelofibrosis. 21921040 2011
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.600 GeneticVariation disease BEFREE JAK2(V617F) failed to induce polycythemia in recipients after deletion of Stat5a/b, although the loss of STAT5 did not prevent the development of myelofibrosis. 22234689 2012
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.600 GeneticVariation disease BEFREE JAK2 was mutated in 100% PV, 66% ET and 68% MF. 22489043 2012
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.600 Biomarker disease BEFREE JAK2 inhibitors for myelofibrosis: why are they effective in patients with and without JAK2V617F mutation? 22583424 2012
Entrez Id: 6427
Gene Symbol: SRSF2
SRSF2
0.050 GeneticVariation disease BEFREE SRSF2 mutations are associated with shortened overall (OS) and leukemia-free survival (LFS) in both MDS and myelofibrosis. 23335386 2013
Entrez Id: 11311
Gene Symbol: VPS45
VPS45
0.030 Biomarker disease BEFREE VPS 45-associated primary infantile myelofibrosis--successful treatment with hematopoietic stem cell transplantation. 24164830 2013
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.600 GeneticVariation disease BEFREE JAK2 V617F mutations were detected in 6 of the 28 patients with bone marrow fibrosis presenting at the time of diagnosis and 2 of the 7 patients with bone marrow fibrosis developing in the course of disease, significantly higher than the control group patients. 24186132 2014
Entrez Id: 1116
Gene Symbol: CHI3L1
CHI3L1
0.010 Biomarker disease BEFREE YKL-40 was significantly elevated in PMF vs. control subjects, PMF levels median 43 ng/mL vs. controls median 28 ng/mL, P = 0.033. 24689875 2014
Entrez Id: 811
Gene Symbol: CALR
CALR
0.600 GeneticVariation disease BEFREE Calreticulin gene mutations have recently been identified in JAK2 mutation-negative patients with MF. 24888274 2014
Entrez Id: 4597
Gene Symbol: MVD
MVD
0.040 Biomarker disease BEFREE MPD-RC 101 prospective study of reduced-intensity allogeneic hematopoietic stem cell transplantation in patients with myelofibrosis. 24963042 2014
Entrez Id: 3716
Gene Symbol: JAK1
JAK1
0.100 Biomarker disease BEFREE JAK1/2 inhibitors have broadened the therapeutic options in myelofibrosis. 25189727 2014
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.600 Biomarker disease BEFREE JAK2-positive cutaneous myelofibrosis presenting as sclerosing extramedullary hematopoietic tumors on the scalp: case presentation and review of the literature. 26153565 2015
Entrez Id: 811
Gene Symbol: CALR
CALR
0.600 GeneticVariation disease BEFREE CALR variants that markedly impair the calcium binding activity of mutant calreticulin are mainly associated with a myelofibrosis phenotype. 26449662 2016
Entrez Id: 811
Gene Symbol: CALR
CALR
0.600 GeneticVariation disease BEFREE Calreticulin mutation burden--is it a stable clone in patients with essential thrombocythemia and myelofibrosis? 26460248 2015
Entrez Id: 3716
Gene Symbol: JAK1
JAK1
0.100 Biomarker disease BEFREE Janus kinase 1/2 (JAK1/2) inhibitor therapy is effective in alleviating myelofibrosis (MF)-related symptoms. 26659587 2016
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.600 Biomarker disease BEFREE JAK2 inhibitor monotherapy is effective in reducing splenomegaly and symptom burden in the majority of treated patients with myelofibrosis, but LT can still occur. 27521308 2016
Entrez Id: 613
Gene Symbol: BCR
BCR
0.100 Biomarker disease BEFREE BCR-ABL1-negative myeloproliferative neoplasms (MPNs) are clonal stem cell disorders defined by proliferation of one or more myeloid lineages, and carry an increased risk of vascular events and progression to myelofibrosis and leukemia. 28543980 2017
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 GeneticVariation disease BEFREE JAK2 V617F mutation in plasma cell-free DNA preceding clinically overt myelofibrosis: Implications for early diagnosis. 29565699 2018