Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE Polycythemia vera is mainly related to JAK2 mutations, whereas a wider mutational spectrum is detected in essential thrombocythemia (ET) with mutations in JAK2, the thrombopoietin (TPO) receptor (MPL), and the calreticulin (CALR) genes. 26450985 2016
Entrez Id: 7066
Gene Symbol: THPO
THPO
0.020 GeneticVariation disease BEFREE Polycythemia vera is mainly related to JAK2 mutations, whereas a wider mutational spectrum is detected in essential thrombocythemia (ET) with mutations in JAK2, the thrombopoietin (TPO) receptor (MPL), and the calreticulin (CALR) genes. 26450985 2016
Entrez Id: 811
Gene Symbol: CALR
CALR
0.100 GeneticVariation disease BEFREE Polycythemia vera is mainly related to JAK2 mutations, whereas a wider mutational spectrum is detected in essential thrombocythemia (ET) with mutations in JAK2, the thrombopoietin (TPO) receptor (MPL), and the calreticulin (CALR) genes. 26450985 2016
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE Polycythemia vera (PV) is a chronic myeloproliferative neoplasm (MPN) characterized by an overactive Janus kinase/signal transducer and activator of transcription (JAK/STAT) pathway through mutations in JAK2 exons 12 or 14 (JAK2 V617F). 26894383 2016
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE Polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) are myeloproliferative neoplasms characterized by recurrent somatic mutations in JAK2, CALR, and MPL. 27727468 2016
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE Polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF) are classical myeloproliferative neoplasms (MPN), characterized by specific somatic mutations in JAK2, CALR or MPL genes. 29047144 2018
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
0.040 AlteredExpression disease BEFREE Polycythaemia rubra vera (PRV) was diagnosed in a 69-year-old Nigerian woman whose haemolysate revealed an electrophoretically slow-moving homogeneous band of the enzyme glucose 6-phosphate dehydrogenase (G6PD). 6414209 1983
Entrez Id: 2056
Gene Symbol: EPO
EPO
0.100 Biomarker disease BEFREE Polycythemia vera (PV) is characterized by low/normal serum erythropoietin (Epo) levels with proposed Epo hypersensitivity. 8709617 1996
Entrez Id: 2056
Gene Symbol: EPO
EPO
0.100 Biomarker disease BEFREE Polycythemia vera (PV) is an acquired clonal disorder characterized by increased production of mature red cells and growth of erythroid colonies in the absence of erythropoietin. 9121771 1997
Entrez Id: 2056
Gene Symbol: EPO
EPO
0.100 Biomarker disease BEFREE Polycythaemia vera (PV) is a myeloproliferative disorder characterized by haematopoietic progenitor cells being hypersensitive to cytokines such as erythropoietin, interleukin-3, stem cell factor and insulin-like growth factor 1, which results in an increased production of mature blood cells. 9414643 1997
Entrez Id: 3562
Gene Symbol: IL3
IL3
0.030 Biomarker disease BEFREE Polycythaemia vera (PV) is a myeloproliferative disorder characterized by haematopoietic progenitor cells being hypersensitive to cytokines such as erythropoietin, interleukin-3, stem cell factor and insulin-like growth factor 1, which results in an increased production of mature blood cells. 9414643 1997
Entrez Id: 3479
Gene Symbol: IGF1
IGF1
0.030 Biomarker disease BEFREE Polycythaemia vera (PV) is a myeloproliferative disorder characterized by haematopoietic progenitor cells being hypersensitive to cytokines such as erythropoietin, interleukin-3, stem cell factor and insulin-like growth factor 1, which results in an increased production of mature blood cells. 9414643 1997
Entrez Id: 57126
Gene Symbol: CD177
CD177
0.100 AlteredExpression disease BEFREE PRV-1 mRNA overexpression, is known to be present in the vast majority of patients with polycythaemia vera and also in some patients with ET. 14617016 2003
Entrez Id: 3716
Gene Symbol: JAK1
JAK1
0.490 GeneticVariation disease BEFREE JAK1 and Tyk2 activation by the homologous polycythemia vera JAK2 V617F mutation: cross-talk with IGF1 receptor. 16239216 2005
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE JAK2 sequencing revealed a unique mutation in the JH2 domain leading to a V617F substitution in more than 80% of the PV samples. 16304380 2005
Entrez Id: 57126
Gene Symbol: CD177
CD177
0.100 AlteredExpression disease BEFREE PRV-1 mRNA is overexpressed by neutrophils from polycythemia vera patients and is homologous to NB1 a gene overexpressed in reactive neutrophilia. 16533288 2006
Entrez Id: 88
Gene Symbol: ACTN2
ACTN2
0.010 Biomarker disease BEFREE MPD6 elicits IgG Ab responses in a subset of polycythemia vera patients, as well as patients with chronic myelogenous leukemia and prostate cancer, suggesting that it is broadly immunogenic. 16982933 2006
Entrez Id: 767558
Gene Symbol: LUZP6
LUZP6
0.010 Biomarker disease BEFREE MPD6 elicits IgG Ab responses in a subset of polycythemia vera patients, as well as patients with chronic myelogenous leukemia and prostate cancer, suggesting that it is broadly immunogenic. 16982933 2006
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 Biomarker disease BEFREE JAK2 617V>F positive polycythemia rubra vera maintained by approximately 18 stochastic stem-cell divisions per year, explaining age of onset by a single rate-limiting mutation. 17452518 2007
Entrez Id: 8091
Gene Symbol: HMGA2
HMGA2
0.030 GeneticVariation disease BEFREE HMGA2 overexpression in polycythemia vera with t(12;21)(q14;q22). 17854665 2007
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE JAK2 V617F was found in 38 (64%) of ET cases, 7 (39%) of CIMF cases, and 9 (100%) of PV cases. 17875526 2007
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE JAK2 exon 12 mutations in polycythemia vera or idiopathic erythrocytosis. 18056003 2007
Entrez Id: 3135
Gene Symbol: HLA-G
HLA-G
0.010 GeneticVariation disease BEFREE HLA-G turns off erythropoietin receptor signaling through JAK2 and JAK2 V617F dephosphorylation: clinical relevance in polycythemia vera. 18059484 2008
Entrez Id: 4352
Gene Symbol: MPL
MPL
0.400 GeneticVariation disease BEFREE MPL W515L mutation was found to be harbored in only one of 102 patients, who had essential thrombocythemia (ET, 1.0%) and was not detected in patients with polycythemia vera (PV), idiopathic myelofibrosis (IMF), and chronic myelogenous leukemia (CML). 18464114 2008
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE JAK2 V617F positive polycythemia Vera in a child with neurofibromatosis type I. 18623221 2008