Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7124
Gene Symbol: TNF
TNF
0.010 AlteredExpression phenotype BEFREE A significant correlation was found between TNF/cachectin and LT gene expression in NHL and the presence of constitutional symptoms. 2302463 1990
Entrez Id: 3558
Gene Symbol: IL2
IL2
0.010 GeneticVariation phenotype BEFREE Constitutional symptoms (fever, malaise, and fatigue) and asymptomatic hyperbilirubinemia were the chief dose-limiting toxic effects of interleukin-2 therapy. 8857018 1996
Entrez Id: 3126
Gene Symbol: HLA-DRB4
HLA-DRB4
0.010 Biomarker phenotype BEFREE CSS has 2 major clinical subsets, antineutrophil cytoplasmic antibody (ANCA)-positive, with features of small-vessel vasculitis, and ANCA-negative, in which organ damage is mainly mediated by tissue eosinophilic infiltration; analysis of HLA-DRB4 in patients categorized by different numbers of vasculitic manifestations (purpura, alveolar hemorrhage, mononeuritis multiplex, rapidly progressive glomerulonephritis, and constitutional symptoms) showed that its frequency strongly correlated with the number of vasculitis symptoms (P for trend = 0.001). 17763415 2007
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.100 Biomarker phenotype BEFREE In PMF trials, JAK2 inhibitors have been shown to produce rapid reductions in spleen size and marked improvements in constitutional symptoms and quality of life. 21521147 2011
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.100 Biomarker phenotype BEFREE Regarding therapy, reduced intensity conditioning regimens have allowed the possibility of performing allogeneic stem cell transplantation in older PMF patients, whereas the first clinical trials with JAK2 inhibitors have shown their efficacy in splenomegaly and constitutional symptoms. 21892083 2011
Entrez Id: 3557
Gene Symbol: IL1RN
IL1RN
0.020 AlteredExpression phenotype BEFREE Other cytokine-phenotype associations included increased IL-8 and constitutional symptoms; IL-2R, IL-12, and transfusion need; IL-2R, IL-8, and leukocytosis; IP-10 and thrombocytopenia; HGF, MIG, IL-1RA, and marked splenomegaly; and IL-1RA, IL-2R, IP-10, MIP-1β, and JAK2V617F. 21300928 2011
Entrez Id: 3576
Gene Symbol: CXCL8
CXCL8
0.020 Biomarker phenotype BEFREE Other cytokine-phenotype associations included increased IL-8 and constitutional symptoms; IL-2R, IL-12, and transfusion need; IL-2R, IL-8, and leukocytosis; IP-10 and thrombocytopenia; HGF, MIG, IL-1RA, and marked splenomegaly; and IL-1RA, IL-2R, IP-10, MIP-1β, and JAK2V617F. 21300928 2011
Entrez Id: 6351
Gene Symbol: CCL4
CCL4
0.010 AlteredExpression phenotype BEFREE Other cytokine-phenotype associations included increased IL-8 and constitutional symptoms; IL-2R, IL-12, and transfusion need; IL-2R, IL-8, and leukocytosis; IP-10 and thrombocytopenia; HGF, MIG, IL-1RA, and marked splenomegaly; and IL-1RA, IL-2R, IP-10, MIP-1β, and JAK2V617F. 21300928 2011
Entrez Id: 4352
Gene Symbol: MPL
MPL
0.010 GeneticVariation phenotype BEFREE In the Florence only cohort, the presence of mutant MPL was associated with older age (P<0.01) and constitutional symptoms (P=0.04) and JAK2V617F with higher hemoglobin (P<0.01) and leukocyte (P=0.03) count; neither patient cohort showed significant associations with platelet count, hemoglobin <10 g/dl, abnormal/unfavorable karyotype, spleen size or prognostic score distribution. 21691276 2011
Entrez Id: 3082
Gene Symbol: HGF
HGF
0.010 AlteredExpression phenotype BEFREE Other cytokine-phenotype associations included increased IL-8 and constitutional symptoms; IL-2R, IL-12, and transfusion need; IL-2R, IL-8, and leukocytosis; IP-10 and thrombocytopenia; HGF, MIG, IL-1RA, and marked splenomegaly; and IL-1RA, IL-2R, IP-10, MIP-1β, and JAK2V617F. 21300928 2011
Entrez Id: 3627
Gene Symbol: CXCL10
CXCL10
0.010 AlteredExpression phenotype BEFREE Other cytokine-phenotype associations included increased IL-8 and constitutional symptoms; IL-2R, IL-12, and transfusion need; IL-2R, IL-8, and leukocytosis; IP-10 and thrombocytopenia; HGF, MIG, IL-1RA, and marked splenomegaly; and IL-1RA, IL-2R, IP-10, MIP-1β, and JAK2V617F. 21300928 2011
Entrez Id: 9560
Gene Symbol: CCL4L2
CCL4L2
0.010 AlteredExpression phenotype BEFREE Other cytokine-phenotype associations included increased IL-8 and constitutional symptoms; IL-2R, IL-12, and transfusion need; IL-2R, IL-8, and leukocytosis; IP-10 and thrombocytopenia; HGF, MIG, IL-1RA, and marked splenomegaly; and IL-1RA, IL-2R, IP-10, MIP-1β, and JAK2V617F. 21300928 2011
Entrez Id: 388372
Gene Symbol: CCL4L1
CCL4L1
0.010 AlteredExpression phenotype BEFREE Other cytokine-phenotype associations included increased IL-8 and constitutional symptoms; IL-2R, IL-12, and transfusion need; IL-2R, IL-8, and leukocytosis; IP-10 and thrombocytopenia; HGF, MIG, IL-1RA, and marked splenomegaly; and IL-1RA, IL-2R, IP-10, MIP-1β, and JAK2V617F. 21300928 2011
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.100 Biomarker phenotype BEFREE Patients who might benefit from JAK2 inhibitors in clinical practice are mostly those with splenomegaly or with constitutional symptoms. 22227528 2012
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.100 GeneticVariation phenotype BEFREE In conclusion, a simple model which includes: age, JAK2 V617F-status and constitutional symptoms can clearly separate distinct risk groups and can be used in addition to the Lille model to predict OS after RIC-ASCT for myelofibrosis. 22280409 2012
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.100 GeneticVariation phenotype BEFREE In fact, clinical trials of these compounds have demonstrated improvements in constitutional symptoms and splenomegaly in patients with both mutated and wild-type JAK2 MF. 22583424 2012
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.100 Biomarker phenotype BEFREE JAK2 ATP competitive inhibitors (ruxolitinib, lestaurtinib, SAR302503, SB1518 and CYT387) or drugs that indirectly inhibit the JAK-STAT pathway (everolimus) have documented major effects on splenomegaly and its constitutional symptoms. 22780211 2012
Entrez Id: 53827
Gene Symbol: FXYD5
FXYD5
0.010 GeneticVariation phenotype BEFREE In conclusion, a simple model which includes: age, JAK2 V617F-status and constitutional symptoms can clearly separate distinct risk groups and can be used in addition to the Lille model to predict OS after RIC-ASCT for myelofibrosis. 22280409 2012
Entrez Id: 6646
Gene Symbol: SOAT1
SOAT1
0.010 Biomarker phenotype BEFREE JAK2 ATP competitive inhibitors (ruxolitinib, lestaurtinib, SAR302503, SB1518 and CYT387) or drugs that indirectly inhibit the JAK-STAT pathway (everolimus) have documented major effects on splenomegaly and its constitutional symptoms. 22780211 2012
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.100 Biomarker phenotype BEFREE Recent clinical trials with JAK2 inhibitors showed significant improvements in splenomegaly and constitutional symptoms in patients with myelofibrosis but meaningful molecular responses were not documented. 23382981 2013
Entrez Id: 3716
Gene Symbol: JAK1
JAK1
0.030 Biomarker phenotype BEFREE Clinical trials demonstrated that JAK1/2 inhibitors ameliorate constitutional symptoms and reduce spleen size in patients with myelofibrosis. 23313046 2013
Entrez Id: 3557
Gene Symbol: IL1RN
IL1RN
0.020 GeneticVariation phenotype BEFREE At age 6 months we started treatment with the recombinant interleukin-1 receptor antagonist anakinra with efficacy both on constitutional symptoms and skin involvement. 24019411 2013
Entrez Id: 102723407
Gene Symbol: LOC102723407
LOC102723407
0.010 GeneticVariation phenotype BEFREE At the time of presentation, AA patients had lower median hemoglobin levels (12.9 g/dL vs 13.7 g/dL), higher β2 microglobulin levels (2.7 mg/dL vs 2.4 mg/dL), greater frequency of constitutional symptoms (27% vs 10%), unmutated immunoglobulin heavy-chain variable region (IGHV) mutation status (65% vs 47%), ζ-chain-associated protein kinase 70 (ZAP70) expression (58% vs 32%), and deletion of chromosome 17p or chromosome 11q (28% vs 17%; P ≤ 02 for each comparison). 24022787 2013
Entrez Id: 28309
Gene Symbol: IGHV3OR16-7
IGHV3OR16-7
0.010 GeneticVariation phenotype BEFREE At the time of presentation, AA patients had lower median hemoglobin levels (12.9 g/dL vs 13.7 g/dL), higher β2 microglobulin levels (2.7 mg/dL vs 2.4 mg/dL), greater frequency of constitutional symptoms (27% vs 10%), unmutated immunoglobulin heavy-chain variable region (IGHV) mutation status (65% vs 47%), ζ-chain-associated protein kinase 70 (ZAP70) expression (58% vs 32%), and deletion of chromosome 17p or chromosome 11q (28% vs 17%; P ≤ 02 for each comparison). 24022787 2013
Entrez Id: 102724971
Gene Symbol: LOC102724971
LOC102724971
0.010 GeneticVariation phenotype BEFREE At the time of presentation, AA patients had lower median hemoglobin levels (12.9 g/dL vs 13.7 g/dL), higher β2 microglobulin levels (2.7 mg/dL vs 2.4 mg/dL), greater frequency of constitutional symptoms (27% vs 10%), unmutated immunoglobulin heavy-chain variable region (IGHV) mutation status (65% vs 47%), ζ-chain-associated protein kinase 70 (ZAP70) expression (58% vs 32%), and deletion of chromosome 17p or chromosome 11q (28% vs 17%; P ≤ 02 for each comparison). 24022787 2013