Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 CausalMutation disease CLINVAR
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 SomaticCausalMutation disease ORPHANET
Entrez Id: 3716
Gene Symbol: JAK1
JAK1
0.490 CausalMutation disease CGI
Entrez Id: 4352
Gene Symbol: MPL
MPL
0.400 SomaticCausalMutation disease ORPHANET
Entrez Id: 10019
Gene Symbol: SH2B3
SH2B3
0.320 CausalMutation disease CGI
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease LHGDN "The significance of bone marrow biopsy and JAK2V617F mutation in the differential diagnosis between the ""early"" prepolycythemic phase of polycythemia vera and essential thrombocythemia." 18701405 2008
Entrez Id: 2006
Gene Symbol: ELN
ELN
0.010 GeneticVariation disease BEFREE 20.7% of PV patients were considered as HU-resistant or intolerant when using the original ELN criteria. 30919072 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE 88% (46/52) of the patients with PV, 47% (39/81) with ET, and 77% (8/11) with PMF were positive for JAK2 V617F, while more than 35% of the individuals were JAK2 V617F-negative, confirming a high prevalence of this abnormality in MPNs, more frequently with a low mutated allele burden, similar to what has been reported in other Western countries, despite differences among methods used to detect this mutation. 22304488 2012
Entrez Id: 2056
Gene Symbol: EPO
EPO
0.100 Biomarker disease BEFREE Polycythaemia vera progenitors are hypersensitive to erythropoietin and other cytokines. 15793561 2005
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE Polycythemia vera is a clonal hematopoietic stem cell disorder in which the JAK2 V617F mutation is observed in >95% of patients, but an as yet unidentified process appears to initiate the clonal expansion of hematopoiesis. 18508790 2008
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
0.010 Biomarker disease BEFREE Polycythemia vera erythroid precursors exhibit increased proliferation and apoptosis resistance associated with abnormal RAS and PI3K pathway activation. 19815050 2009
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
0.010 Biomarker disease BEFREE Polycythemia vera erythroid precursors exhibit increased proliferation and apoptosis resistance associated with abnormal RAS and PI3K pathway activation. 19815050 2009
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
0.010 Biomarker disease BEFREE Polycythemia vera erythroid precursors exhibit increased proliferation and apoptosis resistance associated with abnormal RAS and PI3K pathway activation. 19815050 2009
Entrez Id: 5293
Gene Symbol: PIK3CD
PIK3CD
0.010 Biomarker disease BEFREE Polycythemia vera erythroid precursors exhibit increased proliferation and apoptosis resistance associated with abnormal RAS and PI3K pathway activation. 19815050 2009
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE Polycythemia vera is a relatively common myeloproliferative neoplasm (MPN) molecularly defined by the presence of mutations in the janus kinase (JAK2) gene. 20805747 2010
Entrez Id: 106480993
Gene Symbol: RN7SL263P
RN7SL263P
0.030 Biomarker disease BEFREE Polycythemia vera (PV) is characterized by an increased RBC mass, spontaneous erythroid colony formation, and the JAK2V617F mutation. 23160466 2013
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE Polycythemia vera and the Jak2(V617F) mutation in a case of hereditary spherocytosis. 23588264 2013
Entrez Id: 613
Gene Symbol: BCR
BCR
0.100 GeneticVariation disease BEFREE Polycythaemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (MF), are the most common myeloproliferative neoplasms (MPN) in patients without the BCR-ABL1 gene rearrangement. 23986553 2014
Entrez Id: 25
Gene Symbol: ABL1
ABL1
0.100 GeneticVariation disease BEFREE Polycythaemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (MF), are the most common myeloproliferative neoplasms (MPN) in patients without the BCR-ABL1 gene rearrangement. 23986553 2014
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE Polycythemia vera (PV) is currently diagnosed by the World Health Organization (WHO) criteria regarding hemoglobin (HB) levels and JAK2V617F and related mutations or by the British Committee for Standards in Haematology (BCSH) guidelines predominantly based on hematocrit (HCT) values (>52% in men and >48% in women) in JAK2 mutated patients. 24166817 2014
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE Polycythemia vera (PV) is a chronic myeloproliferative neoplasm characterized by clonal expansion of a hematopoietic progenitor, erythrocytosis, often leukocytosis and/or thrombocytosis, and nearly always an activating mutation in Janus kinase 2 (JAK2). 25270596 2014
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE Polycythemia vera (PV) is a chronic myeloproliferative neoplasm associated with JAK2 mutations (V617F or exon 12) in almost all cases. 25278584 2014
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE Polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF) are classical Philadelphia chromosome (Ph)-negative MPN that have a Janus Kinase 2 (JAK2) mutation, especially JAK2V617F in the majority of patients. 26163633 2015
Entrez Id: 4352
Gene Symbol: MPL
MPL
0.400 GeneticVariation disease BEFREE Polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) constitute the BCR-ABL1-negative myeloproliferative neoplasms and are characterized by mutually exclusive Janus kinase 2 (JAK2), calreticulin (CALR), and myeloproliferative leukemia virus oncogene (MPL) mutations; respective frequencies of these mutations are approximately 95%, 0%, and 0% in PV, 60%, 20%, and 3% in ET, and 60%, 25%, and 7% in PMF. 26182311 2015
Entrez Id: 613
Gene Symbol: BCR
BCR
0.100 GeneticVariation disease BEFREE Polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) constitute the BCR-ABL1-negative myeloproliferative neoplasms and are characterized by mutually exclusive Janus kinase 2 (JAK2), calreticulin (CALR), and myeloproliferative leukemia virus oncogene (MPL) mutations; respective frequencies of these mutations are approximately 95%, 0%, and 0% in PV, 60%, 20%, and 3% in ET, and 60%, 25%, and 7% in PMF. 26182311 2015