eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| chronic myeloproliferative disease | ||||
| Disease ID | 441 |
|---|---|
| Disease | chronic myeloproliferative disease |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:6) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:14) C0040053 | thrombosis | 14 C0836924 | thrombocythemia | 4 C0020542 | pulmonary hypertension | 3 C0836924 | thrombocytosis | 2 C0001815 | myelofibrosis | 2 C1516669 | clonal evolution | 2 C0010072 | coronary thrombosis | 1 C0272285 | heparin-induced thrombocytopenia | 1 C0014804 | erythromelalgia | 1 C0029464 | osteosclerosis | 1 C0040028 | essential thrombocythemia | 1 C0018952 | extramedullary hematopoiesis | 1 C0005779 | coagulopathy | 1 C0856761 | budd-chiari syndrome | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:337) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs10974944 | 20422415 | 3717 | JAK2 | umls:C0027022 | GAD | [The G allele of the JAK2 rs10974944 SNP, part of JAK2 46/1 haplotype, is strongly associated with JAK2 V617F-positive myeloproliferative neoplasms.] | 0.351660654 | 2010 | JAK2;INSL6 | 9 | 5070831 | C | G |
| rs121913615 | 18464114 | 4352 | MPL | umls:C0027022 | BeFree | To investigate its prevalence in Chinese patients with MPD, we introduced allele-specific PCR (AS-PCR) combined with sequence analysis to simultaneously screen MPL W515L and JAK2 V617F mutations in 190 MPD patients. | 0.036633516 | 2008 | MPL | 1 | 43349338 | G | T |
| rs121913615 | 18464114 | 6646 | SOAT1 | umls:C0027022 | BeFree | As JAK2 V617F, MPL W515L is a novel acquired mutation that induces constitutive cytokine-independent activation of the JAK-STAT pathway in myeloproliferative disorders (MPD). | 0.002171535 | 2008 | MPL | 1 | 43349338 | G | T |
| rs121913615 | 18464114 | 3717 | JAK2 | umls:C0027022 | BeFree | As JAK2 V617F, MPL W515L is a novel acquired mutation that induces constitutive cytokine-independent activation of the JAK-STAT pathway in myeloproliferative disorders (MPD). | 0.351660654 | 2008 | MPL | 1 | 43349338 | G | T |
| rs121913615 | 19643476 | 3717 | JAK2 | umls:C0027022 | BeFree | Scanning of JAK2 exons 12-25 and MPL exon 10 revealed the presence of JAK2 alterations in six and MPL W515L/K mutations in five of 34 patients with myeloproliferative disorders. | 0.351660654 | 2010 | MPL | 1 | 43349338 | G | T |
| rs121913616 | 19194467 | 4352 | MPL | umls:C0027022 | BeFree | The thrombopoietin receptor gene (MPL) is expressed in megakaryocytes and exhibits the gain of function point mutation W515K/L in approximately 5% of patients with primary myelofibrosis/idiopathic myelofibrosis (PMF) representing one subtype of the chronic myeloproliferative disorders (myeloproliferative neoplasm). | 0.036633516 | 2009 | NA | NA | NA | NA | NA |
| rs121918464 | 16371368 | 5781 | PTPN11 | umls:C0027022 | BeFree | Our results showed that SHP-2 E76K mutation caused myeloproliferative disease in mice, while overexpression of WT SHP-2 decreased hematopoietic potential of the transduced cells in recipient animals. | 0.002171535 | 2006 | PTPN11 | 12 | 112450406 | G | A,C |
| rs17849241 | 19735488 | 9021 | SOCS3 | umls:C0027022 | BeFree | Interestingly, the SOCS3(F136L) mutation was detected in a Japanese myeloproliferative disorder patient cohort at double the frequency of healthy controls. | 0.001085767 | 2009 | SOCS3;LOC101928674 | 17 | 78358688 | G | T |
| rs386626619 | 21435189 | 3717 | JAK2 | umls:C0027022 | BeFree | The prevalence of overt MPN and that of JAK2 V617F were lower in Korean patients with SVT than in previous reports. | 0.351660654 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 25559461 | 3717 | JAK2 | umls:C0027022 | BeFree | The JAK2 V617F mutational status and allele burden may be related with the risk of venous thromboembolic events in patients with Philadelphia-negative myeloproliferative neoplasms. | 0.351660654 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 25012914 | 2264 | FGFR4 | umls:C0027022 | BeFree | Discovery of the protein tyrosine kinase JAK2 V617F allele contributed to better understanding of the pathogenetic mechanisms of MPNs. | 0.000542884 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 23391844 | 3717 | JAK2 | umls:C0027022 | BeFree | In contrast, this same mutation has been detected in only 4 patients with CNL to date, suggesting that the JAK2 V617F mutation is a rare event in patients with atypical MPD. | 0.351660654 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 16456375 | 3717 | JAK2 | umls:C0027022 | BeFree | The major incentives for this review have been the recent description of an activating JAK2 tyrosine kinase mutation (JAK2 (V617F)) in essential thrombocythemia, related myeloproliferative disorders, and the impact on clinical practice from the publication of a major treatment trial. | 0.351660654 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 18032883 | 3717 | JAK2 | umls:C0027022 | BeFree | Presence of JAK2(V617F) in bone marrow might therefore increase the risk of future MPD development, just as monoclonal gammopathy of undetermined significance (MGUS) increases the risk of multiple myeloma. | 0.351660654 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 18336541 | 3717 | JAK2 | umls:C0027022 | BeFree | The JAK2-V617F mutation can be frequently detected in the Taiwanese patients with MPD disorders and therefore should be incorporated into the initial evaluation of patients suspected of MPD. | 0.351660654 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 22132729 | 3717 | JAK2 | umls:C0027022 | BeFree | Recent studies have identified a recurrent somatic activating mutation (JAK2 V617F) in majority of patients with myeloproliferative disorders (MPDs). | 0.351660654 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 23300995 | 4953 | ODC1 | umls:C0027022 | BeFree | Critical roles of Myc-ODC axis in the cellular transformation induced by myeloproliferative neoplasm-associated JAK2 V617F mutant. | 0.000271442 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 20966544 | 6776 | STAT5A | umls:C0027022 | BeFree | Recently, a single gain-of-function point mutation of JAK2 was described in myeloproliferative diseases leading to constitutive Jak2 kinase activity, subsequent Stat5a/b activation and involvement of V617F Jak2 in the pathogenesis of myeloproliferative disorders. | 0.000814326 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 17687555 | 3717 | JAK2 | umls:C0027022 | BeFree | JAK2(V617F) positive early stage myeloproliferative disease (essential thrombocythemia) as the cause of portal vein thrombosis in two middle-aged women: therapeutic implications in view of the literature. | 0.351660654 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 16810609 | 2056 | EPO | umls:C0027022 | BeFree | MPD-specific markers such as serum EPO, endogenous erythroid colony formation (EEC), and JAK2 V617F have high specificities, but the sensitivities are not high enough to detect the early stages of the MPDs, ET, PV, and prefibrotic CIMF. | 0.000814326 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 22579713 | 3717 | JAK2 | umls:C0027022 | BeFree | The HDAC inhibitor Givinostat modulates the hematopoietic transcription factors NFE2 and C-MYB in JAK2(V617F) myeloproliferative neoplasm cells. | 0.351660654 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 25012914 | 2046 | EPHA8 | umls:C0027022 | BeFree | Discovery of the protein tyrosine kinase JAK2 V617F allele contributed to better understanding of the pathogenetic mechanisms of MPNs. | 0.000542884 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 16998940 | 3717 | JAK2 | umls:C0027022 | BeFree | JAK2 (V617F) as an acquired somatic mutation and a secondary genetic event associated with disease progression in familial myeloproliferative disorders. | 0.351660654 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 16502590 | 3717 | JAK2 | umls:C0027022 | BeFree | Methods for the detection of the JAK2 V617F mutation in human myeloproliferative disorders. | 0.351660654 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 26235214 | 3717 | JAK2 | umls:C0027022 | BeFree | Microfluidics-based assays can reduce the assay time and sample/reagent consumption and enhance the reaction efficiency; however, no current assay has integrated isothermal amplification for point-of-care MPN JAK2 V617F mutation testing with a microchip. | 0.351660654 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 20728437 | 3717 | JAK2 | umls:C0027022 | BeFree | We studied the sensitivity and reproducibility of LightScanner™ platform in the detection of JAK2 V617F mutation and the availability for diagnostic use in MPN. | 0.351660654 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 25479752 | 5688 | PSMA7 | umls:C0027022 | BeFree | In mice, tamoxifen treatment blocked development of JAK2(V617F)-induced myeloproliferative neoplasm in vivo, induced apoptosis of human JAK2(V617F+) HSPCs in a xenograft model, and sensitized MLL-AF9(+) leukemias to chemotherapy. | 0.000271442 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 18245540 | 3717 | JAK2 | umls:C0027022 | BeFree | The discovery of an activating somatic mutation in codon 617 of the gene encoding the Janus kinase (JAK)-2 (JAK2 V617F) in patients with myeloproliferative disorders has opened new avenues for the development of targeted therapies for these malignancies. | 0.351660654 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 16081684 | 3717 | JAK2 | umls:C0027022 | BeFree | Altered gene expression in myeloproliferative disorders correlates with activation of signaling by the V617F mutation of Jak2. | 0.351660654 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 16225651 | 25 | ABL1 | umls:C0027022 | BeFree | An association between an activating JAK2 mutation (JAK2(V617F)) and BCR/ABL-negative myeloproliferative disorders was recently reported in multiple simultaneous publications. | 0.01737228 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 19466975 | 613 | BCR | umls:C0027022 | BeFree | Data on angiogenesis in the bone marrow of BCR-ABL1-negative myeloproliferative neoplasm (MPN) patients suggest an increase of the microvessel density (MVD) and vascular endothelial growth factor (VEGF) expression, but relations to the JAK2-V617F status remain controversial. | 0.128153188 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 19135773 | 3717 | JAK2 | umls:C0027022 | BeFree | Myeloproliferative disorders (MPDs) are often associated with the presence of the JAK2-V617F mutation in hematopoietic cells. | 0.351660654 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 24858412 | 3717 | JAK2 | umls:C0027022 | BeFree | Association between thromboembolic events and the JAK2 V617F mutation in myeloproliferative neoplasms. | 0.351660654 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 18003935 | 10148 | EBI3 | umls:C0027022 | BeFree | Finally, we show that IL-27R can functionally replace a homodimeric type I cytokine receptor in the activation of JAK2-V617F, a critical JAK2 mutation in various myeloproliferative disorders (MPDs). | 0.000542884 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 25012914 | 3717 | JAK2 | umls:C0027022 | BeFree | Discovery of the protein tyrosine kinase JAK2 V617F allele contributed to better understanding of the pathogenetic mechanisms of MPNs. | 0.351660654 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 26071474 | 3717 | JAK2 | umls:C0027022 | BeFree | In the current study, mutations of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CALR exon 9 were analyzed in 929 Chinese patients with BCR-ABL1-negative MPN, including 234 cases of polycythemia vera (PV), 428 ETs, 187 PMFs, and 80 unclassifiable MPNs (MPN-Us). | 0.351660654 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 20028972 | 6777 | STAT5B | umls:C0027022 | BeFree | STAT5 activation is critical for the transformation mediated by myeloproliferative disorder-associated JAK2 V617F mutant. | 0.000542884 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 16810610 | 3717 | JAK2 | umls:C0027022 | BeFree | New insights into the pathogenesis of JAK2 V617F-positive myeloproliferative disorders and consequences for the management of patients. | 0.351660654 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 17408106 | 3717 | JAK2 | umls:C0027022 | BeFree | A new mutation (V617F) affecting the JAK2 gene has been recently described as acquired in patients with myeloproliferative disorders and other myeloid malignancies. | 0.351660654 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 25259626 | 3717 | JAK2 | umls:C0027022 | BeFree | The classical Philadelphia chromosome-negative myeloproliferative neoplasms consist of three main pathological and clinical entities with the recurrent JAK2 V617F mutation present in ∼98% of patients with polycythemia vera and ∼50% of patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF). | 0.351660654 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 18815196 | 3717 | JAK2 | umls:C0027022 | BeFree | SOCS3 transcript levels were highest in patients with polycythemia vera and other JAK2 V617F positive myeloproliferative disorders, consistent with SOCS3 being a target gene of JAK2/STAT5 signaling. | 0.351660654 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 16901656 | 3717 | JAK2 | umls:C0027022 | BeFree | The first international meeting on V617F JAK2 mutation and its relevance in Philadelphia-negative myeloproliferative disorders. | 0.351660654 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 24066127 | 3717 | JAK2 | umls:C0027022 | BeFree | Heterozygous and homozygous JAK2(V617F) states modeled by induced pluripotent stem cells from myeloproliferative neoplasm patients. | 0.351660654 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 19877761 | 3717 | JAK2 | umls:C0027022 | BeFree | The JAK2 V617F mutation has been implicated in a variety of diseases mainly related to myeloproliferative disorders including polycythemia vera, essential thrombocythemia, and idiopathic myelofibrosis with an increased demand for testing using molecular techniques. | 0.351660654 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 23300995 | 89874 | SLC25A21 | umls:C0027022 | BeFree | Critical roles of Myc-ODC axis in the cellular transformation induced by myeloproliferative neoplasm-associated JAK2 V617F mutant. | 0.000271442 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 19482442 | 3717 | JAK2 | umls:C0027022 | BeFree | The JAK2 [V617F] mutation has recently been recognised as critical to the pathogenesis of the myeloproliferative disorders (MPDs). | 0.351660654 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 20434300 | 3717 | JAK2 | umls:C0027022 | BeFree | A recent novel mutation in the Janus activated kinase 2 gene involving a gain-of-function substitute of valine to phenylalanine at position 617 (JAK2 V617F) has been discovered to be prevalent in patients with mesenteric vein thrombosis and myeloproliferative disorders. | 0.351660654 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 18245948 | 3717 | JAK2 | umls:C0027022 | BeFree | In 2005, a point mutation in JAK2 (JAK2-V617F) was identified in a number of neoplastic myeloproliferative disorders, ushering in a new era of JAK2 research. | 0.351660654 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 19046316 | 3717 | JAK2 | umls:C0027022 | BeFree | The JAK2(V617F) tyrosine kinase mutation identifies clinically latent myeloproliferative disorders in patients presenting with hepatic or portal vein thrombosis. | 0.351660654 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 16537803 | 3717 | JAK2 | umls:C0027022 | BeFree | Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families with myeloproliferative disorders. | 0.351660654 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 16330446 | 3717 | JAK2 | umls:C0027022 | BeFree | Although the V617F JAK2 mutation has been described by several groups to be associated with classical myeloproliferative disorders (MPD), this same mutation has been detected with a low incidence in atypical MPD, such as CNL. | 0.351660654 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 18796251 | 3717 | JAK2 | umls:C0027022 | BeFree | Accordingly, it seems that the investigation for the V617F mutation of the JAK2 gene is not mandatory in all Mexican mestizo patients with unexplained thrombophilia and that this genetic study should be reserved for special cases, such as patients with thrombosis in uncommon sites or patients with cell counts suggesting the presence of an underlying MPD. | 0.351660654 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 17178722 | 3717 | JAK2 | umls:C0027022 | BeFree | These data suggest that erlotinib may be used for treatment of JAK2(V617F)-positive PV and other myeloproliferative disorders. | 0.351660654 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 25015634 | 3717 | JAK2 | umls:C0027022 | BeFree | JAK2 V617F mutation is a molecular marker for myeloproliferative neoplasms (MPNs). | 0.351660654 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 21198321 | 3717 | JAK2 | umls:C0027022 | BeFree | JAK2 V617F gene mutation in the laboratory work-up of myeloproliferative disorders: experience of a major referral center in Lebanon. | 0.351660654 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 18723264 | 947 | CD34 | umls:C0027022 | BeFree | We conclude that the extent of JAK2(V617F) CD34(+) cell clonal dominance is associated with disease phenotype within the MPD and, in PV, is associated with extramedullary disease, leukocytosis, and disease duration. | 0.002442977 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 21331593 | 3717 | JAK2 | umls:C0027022 | BeFree | A molecular fingerprint distinguishes JAK2(V617F)-positive MPN patients without response to HU treatment, with overexpression of JAK2, MAPK14, PIK3CA, and SFK genes. | 0.351660654 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 24963593 | 3717 | JAK2 | umls:C0027022 | BeFree | The JAK2 V617F mutation is highly prevalent in patients with myeloproliferative neoplasms (MPN). | 0.351660654 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 16408098 | 3717 | JAK2 | umls:C0027022 | BeFree | JAK2 V617F tyrosine kinase mutation in cell lines derived from myeloproliferative disorders. | 0.351660654 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 16293880 | 3717 | JAK2 | umls:C0027022 | BeFree | The nature of the specific oncogenic mutation(s) is currently being unraveled with the recent discovery of an association between a somatic point mutation of JAK2 tyrosine kinase (V617F) and bcr/abl-negative myeloproliferative disorders, including MMM. | 0.351660654 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 16885051 | 3717 | JAK2 | umls:C0027022 | BeFree | The acquired mutation Val617Phe in the tyrosine kinase JAK2 was recently identified in most but not all patients with classical myeloproliferative disorders. | 0.351660654 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 18160670 | 3717 | JAK2 | umls:C0027022 | BeFree | An acquired somatic mutation in the JAK2 gene (JAK2-V617F) is present in the majority of patients with myeloproliferative disorders (MPDs). | 0.351660654 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 22579713 | 4778 | NFE2 | umls:C0027022 | BeFree | The HDAC inhibitor Givinostat modulates the hematopoietic transcription factors NFE2 and C-MYB in JAK2(V617F) myeloproliferative neoplasm cells. | 0.000542884 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 16675710 | 3717 | JAK2 | umls:C0027022 | BeFree | Acquisition of the V617F mutation of JAK2 is a late genetic event in a subset of patients with myeloproliferative disorders. | 0.351660654 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 19216843 | 3717 | JAK2 | umls:C0027022 | BeFree | Although the Jak2-V617F mutation has generated strong awareness because of its causative role in myeloproliferative disorders, reports of Jak2 gene aberrations linked to hematologic malignancies have preceded those of V617F by nearly a decade. | 0.351660654 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 18528646 | 3717 | JAK2 | umls:C0027022 | BeFree | A single mutation 1849G>T in the JAK2 gene (V617F) has recently been described in classical myeloproliferative disorders (MPD). | 0.351660654 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 19466975 | 3717 | JAK2 | umls:C0027022 | BeFree | In addition, it provides evidence that despite the fact that angiogenesis is generally independent of the JAK2-V617F status in MPN, new vessel formation might be linked to Jak2 effects in some cases with high JAK2-V617F mutant allele burden. | 0.351660654 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 17251334 | 3717 | JAK2 | umls:C0027022 | BeFree | However, the recent identification of a V617F mutation in the JH2 domain of the JAK2 gene in a high proportion of patients suffering from MPDs may provide confirmation of a diagnosis. | 0.351660654 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 18003935 | 3717 | JAK2 | umls:C0027022 | BeFree | Finally, we show that IL-27R can functionally replace a homodimeric type I cytokine receptor in the activation of JAK2-V617F, a critical JAK2 mutation in various myeloproliferative disorders (MPDs). | 0.351660654 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 18216297 | 3717 | JAK2 | umls:C0027022 | BeFree | The V617F activating point mutation in Jak2 is associated with a proportion of myeloproliferative disorders. | 0.351660654 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 18055983 | 3717 | JAK2 | umls:C0027022 | BeFree | Four novel JAK2 mutant alleles have recently been described in patients with V617F-negative myeloproliferative disorders presenting with erythrocytosis. | 0.351660654 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 18300758 | 3717 | JAK2 | umls:C0027022 | BeFree | The high prevalence of the V617F mutation of Janus kinase 2 and associated mutations in myeloproliferative disorders (> 95% in polycythemia vera and about half of patients with essential thrombocythemia and primary myelofibrosis) has led the World Health Organization to alter the diagnostic criteria for these myeloproliferative disorders, and these changes are reviewed. | 0.351660654 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 17194663 | 25 | ABL1 | umls:C0027022 | BeFree | Discovery of a constitutively activating point mutation of the Janus kinase 2 (JAK2) receptor-associated tyrosine kinase in patients with polycythemia vera (PV) and other BCR/ABL-negative myeloproliferative disorders prompted many groups around the world to examine diverse subsets of patients with myeloid diseases for the prevalence of the JAK2 V617F mutation and its clinical and pathological associations. | 0.01737228 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 17307838 | 3717 | JAK2 | umls:C0027022 | BeFree | In patients with SVT, screening for the JAK2 V617F mutation may be useful in recognising patients who should be carefully observed for the subsequent development of overt MPD. | 0.351660654 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 24951423 | 3717 | JAK2 | umls:C0027022 | BeFree | JAK2(V617F), the main mutation involved in MPN, is considered as a risk factor for thrombosis, although the direct link between the mutation and hemostatic disorders is not strictly established. | 0.351660654 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 23469088 | 3717 | JAK2 | umls:C0027022 | BeFree | Non-reactive platelet counts elevation occurs mainly in myeloproliferative disorders (MPDs), which have been reported to be closely associated with JAK2 V617F mutation. | 0.351660654 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 18396750 | 3717 | JAK2 | umls:C0027022 | BeFree | We report two cases of patient with portal vein thrombosis of unknown origin in whom the presence of the V617F mutation of the Janus Kinase 2 gene lead to the diagnosis of primary myeloproliferative disorder, confirmed on bone marrow examination. | 0.351660654 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 16810609 | 4597 | MVD | umls:C0027022 | BeFree | Bone marrow histopathology in addition to clinical, laboratory, biological, and molecular markers, including the JAK2 V617 PCR test, serum EPO, PRV-1, EEC, LAP score, peripheral blood parameters, and spleen size on echogram will detect the early stages of MPD and allows diagnostic differentiation of the three primary MPDs (ET, PV, and CIMF) in both JAK2 V617F-positive and JAK2 wild-type MPD patients. | 0.002442977 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 17379069 | 3717 | JAK2 | umls:C0027022 | BeFree | However, several unanswered questions regarding the essential role of JAK2(V617F) arose as 1) it is not a dominant mutation, 2) it is not PV-specific as it is found in several myeloproliferative disorders, and 3) some ( approximately 20%) PV patients lack the JAK2(V617F) mutation. | 0.351660654 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 19004076 | 3717 | JAK2 | umls:C0027022 | BeFree | The role of screening for the JAK2 V617F mutation in patients presenting with thrombosis without overt MPD is unclear, but appears justified in cases of idiopathic splanchnic vein thrombosis. | 0.351660654 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 16670266 | 25 | ABL1 | umls:C0027022 | BeFree | A JAK2(V617F) mutation is frequently found in several BCR/ABL-negative myeloproliferative disorders. | 0.01737228 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 25345590 | 3717 | JAK2 | umls:C0027022 | BeFree | The acquired JAK2 V617F mutation is common in patients with myeloproliferative neoplasms. | 0.351660654 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 23300995 | 3717 | JAK2 | umls:C0027022 | BeFree | Critical roles of Myc-ODC axis in the cellular transformation induced by myeloproliferative neoplasm-associated JAK2 V617F mutant. | 0.351660654 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 18188594 | 3717 | JAK2 | umls:C0027022 | BeFree | The diagnosis of a myeloproliferative disease could be corroborated by demonstration of the V617F mutation of JAK2. | 0.351660654 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 16285006 | 3717 | JAK2 | umls:C0027022 | BeFree | The V617F JAK2 mutation and the myeloproliferative disorders. | 0.351660654 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 19939582 | 3717 | JAK2 | umls:C0027022 | BeFree | JAK2-V617F mutation in Moroccan patients with myeloproliferative disorders: contribution, diagnosis and therapeutic prospects. | 0.351660654 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 16627272 | 3717 | JAK2 | umls:C0027022 | BeFree | DNA from 161 samples was isolated from peripheral blood granulocytes and formalin-fixed bone marrow clot sections in patients with CMPDs and without myeloproliferative disorders previously genotyped for the JAK2 V617F (G-->T) mutation, which included 114 wild types (GG) and 47 mutants (GT and TT). | 0.351660654 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 18464114 | 6646 | SOAT1 | umls:C0027022 | BeFree | As JAK2 V617F, MPL W515L is a novel acquired mutation that induces constitutive cytokine-independent activation of the JAK-STAT pathway in myeloproliferative disorders (MPD). | 0.002171535 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 16670266 | 3717 | JAK2 | umls:C0027022 | BeFree | Questions remain regarding the exact contribution of JAK2(V617F) in other myeloproliferative disorders. | 0.351660654 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 17934351 | 3717 | JAK2 | umls:C0027022 | BeFree | A general theme is that JAK2 V617F is variably associated with thrombosis and, more consistently, associated with elevations in blood counts relative to mutation-negative myeloproliferative disorders; future preclinical research should focus on the pathophysiology of thrombosis in myeloproliferative disorders, particularly in terms of the relationship between dysregulated Janus kinase 2 and elevated blood counts. | 0.351660654 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 26071474 | 83886 | PRSS27 | umls:C0027022 | BeFree | In the current study, mutations of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CALR exon 9 were analyzed in 929 Chinese patients with BCR-ABL1-negative MPN, including 234 cases of polycythemia vera (PV), 428 ETs, 187 PMFs, and 80 unclassifiable MPNs (MPN-Us). | 0.001085767 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 16632470 | 3717 | JAK2 | umls:C0027022 | BeFree | The V617F activating point mutation in Jak2 has recently been associated with myeloproliferative disorders. | 0.351660654 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 19797525 | 3717 | JAK2 | umls:C0027022 | BeFree | Multiple iPS cell lines were also generated from peripheral blood CD34(+) cells of 2 patients with myeloproliferative disorders (MPDs) who acquired the JAK2-V617F somatic mutation in their blood cells. | 0.351660654 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 23057517 | 3717 | JAK2 | umls:C0027022 | BeFree | Molecular genetic assays for the detection of the JAK2 V617F (c.1849G>T) and other pathogenetic mutations within JAK2 exon 12 and MPL exon 10 are part of the routine diagnostic workup for patients presenting with erythrocytosis, thrombocytosis or otherwise suspected to have a myeloproliferative neoplasm. | 0.351660654 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 18781401 | 3717 | JAK2 | umls:C0027022 | BeFree | The JAK2 V617F mutation has been implicated in a variety of diseases mainly related to myeloproliferative disorders including polycythemia Vera, essential thrombocythemia, and idiopathic Myelofibrosis but has not been previously described in Thalassemia patients. | 0.351660654 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 25912019 | 947 | CD34 | umls:C0027022 | BeFree | BMS-911543 is a JAK2-selective inhibitor that induces apoptosis in JAK2-dependent cell lines and inhibits the growth of CD34(+) progenitor cells from patients with JAK2(V617F)-positive MPN. | 0.002442977 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 18328792 | 3717 | JAK2 | umls:C0027022 | BeFree | A sensitive assay for the JAK2 V617F mutation has the potential to diagnose atypical MPDs in multiple undiagnosed cases of intra-abdominal thrombosis and therefore alter the management and prognosis of these patients. | 0.351660654 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 19016916 | 3717 | JAK2 | umls:C0027022 | BeFree | The discovery of JAK2 V617F mutation has shed light on understanding of the molecular pathways involved in the pathogenesis of the myeloproliferative disorders. | 0.351660654 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 17363731 | 3717 | JAK2 | umls:C0027022 | BeFree | Leukemic blasts in transformed JAK2-V617F-positive myeloproliferative disorders are frequently negative for the JAK2-V617F mutation. | 0.351660654 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 21933004 | 3717 | JAK2 | umls:C0027022 | BeFree | Janus kinase 2 (JAK2) V617F mutation testing has revolutionized the classification of myeloproliferative disorders, for which several tests have been introduced for qualitative and quantitative diagnostics including the MutaScreen and MutaQuant kits by IPSOGEN. | 0.351660654 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 20153505 | 3717 | JAK2 | umls:C0027022 | BeFree | We conclude that JAK2 V617F mutation is uncommon in the 3q21q26 syndrome and that its presence may indicate an unusual coexistence of a myeloproliferative neoplasm. | 0.351660654 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 25912019 | 3717 | JAK2 | umls:C0027022 | BeFree | Limited efficacy of BMS-911543 in a murine model of Janus kinase 2 V617F myeloproliferative neoplasm. | 0.351660654 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 19474426 | 3717 | JAK2 | umls:C0027022 | BeFree | TET2 defects were present in hematopoietic stem cells and preceded the JAK2 V617F mutation in the five samples from patients with myeloproliferative disorders that we analyzed. | 0.351660654 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 19816006 | 3717 | JAK2 | umls:C0027022 | BeFree | Our results seem to confirm that CLL cases are negative for JAK2(V617F) mutation in B- and T-lymphocyte populations.Presence of JAK2(V617F) mutation in subjects without myeloproliferative diseases could indicate an increased risk of a future myeloproliferative neoplasm development. | 0.351660654 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 25746303 | 3717 | JAK2 | umls:C0027022 | BeFree | We studied 1088 Chinese with diverse myeloproliferative neoplasms including ET (N=234) and PMF (N=50) without JAK2(V617F) or MPL exon 10 mutations. | 0.351660654 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 22696908 | 3717 | JAK2 | umls:C0027022 | BeFree | All idiopathic IAVT patients must be screened for JAK2(V617F) mutation to detect latent MPD. | 0.351660654 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 19693645 | 3717 | JAK2 | umls:C0027022 | BeFree | Mesenteric venous thrombosis secondary to an unsuspected JAK2 V617F-positive myeloproliferative disorder. | 0.351660654 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 17596137 | 3717 | JAK2 | umls:C0027022 | BeFree | The JAK2 V617F mutation is associated with platelet activation, as measured by elevated sP-selectin levels, in MPD. | 0.351660654 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 17384221 | 3717 | JAK2 | umls:C0027022 | BeFree | An acquired mutation in Janus kinase 2 (JAK2), V617F, has recently been identified in human myeloproliferative disorders. | 0.351660654 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 16916724 | 3717 | JAK2 | umls:C0027022 | BeFree | We aimed to determine the relative sensitivity of four separate molecular assays used to detect the presence of the JAK2 V617F mutation in peripheral blood from patients with essential thrombocythaemia and related myeloproliferative disorders. | 0.351660654 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 19478480 | 3717 | JAK2 | umls:C0027022 | BeFree | JAK2 V617F-positive latent essential thrombocythemia and splanchnic vein thrombosis: the role of bone marrow biopsy for the diagnosis of myeloproliferative disease. | 0.351660654 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 17384217 | 3717 | JAK2 | umls:C0027022 | BeFree | Quantitative determination of JAK2 V617F by TaqMan: An absolute measure of averaged copies per cell that may be associated with the different types of myeloproliferative disorders. | 0.351660654 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 18600099 | 3717 | JAK2 | umls:C0027022 | BeFree | The discovery of the Janus kinase 2 Val617Phe mutation has brought new insights into the development of myeloproliferative disorders; however, the pathogenesis of essential thrombocythemia and its related thrombotic complications has not been completely understood. | 0.351660654 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 19521323 | 3717 | JAK2 | umls:C0027022 | BeFree | The discovery that many patients with polycythemia vera, essential thrombocythemia, and primary myelofibrosis express a mutation in the Janus Kinase 2 gene (JAK2 V617F), a kinase essential for the normal development of erythrocytes, granulocytes, and platelets, provided a molecular explanation for the unregulated hematopoiesis typical of these disorders, a diagnostic test that distinguishes them from other types of myeloproliferative disorders, and an opportunity to develop targeted therapy that could potentially avoid the toxicities associated with the conventional chemotherapeutic agents currently employed in their treatment. | 0.351660654 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 15860661 | 3717 | JAK2 | umls:C0027022 | BeFree | The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both atypical myeloproliferative disorders and myelodysplastic syndromes. | 0.351660654 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 17059429 | 3717 | JAK2 | umls:C0027022 | BeFree | Determination of the JAK2 V617F mutation may contribute to the search for genetic determinants of PMVT and may be useful to recognize patients who should be carefully observed for the subsequent development of overt MPDs. | 0.351660654 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 18059484 | 3717 | JAK2 | umls:C0027022 | BeFree | Such HLA-G5-mediated inhibition constitutes a new parameter to be considered in the design of future approaches aimed at treating JAK2 V617F-positive myeloproliferative disorders. | 0.351660654 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 17266061 | 3717 | JAK2 | umls:C0027022 | BeFree | Analysis of JAK2(V617F) mutation in Chinese patients with myeloproliferative disorders. | 0.351660654 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 18003935 | 8809 | IL18R1 | umls:C0027022 | BeFree | Finally, we show that IL-27R can functionally replace a homodimeric type I cytokine receptor in the activation of JAK2-V617F, a critical JAK2 mutation in various myeloproliferative disorders (MPDs). | 0.000542884 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 18294066 | 3717 | JAK2 | umls:C0027022 | BeFree | Because of the clinical importance of this mutation in diagnosing myeloproliferative disorders and its relevance for disease progression, we have developed a tetra-primer polymerase chain reaction (PCR) assay to detect JAK2 p.V617F. | 0.351660654 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 23588264 | 3717 | JAK2 | umls:C0027022 | BeFree | The identification of Jak2(V617F) mutations in more than 90% of patients with polycythemia vera (PV) has greatly improved the diagnostic accuracy for this uncommon myeloproliferative disorder. | 0.351660654 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 21118387 | 3717 | JAK2 | umls:C0027022 | BeFree | Laboratory testing for the presence of the V617F mutation in JAK2 has taken on great importance in the diagnosis of myeloproliferative disorders. | 0.351660654 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 16946305 | 3717 | JAK2 | umls:C0027022 | BeFree | The data suggest that the JAK2(V617F) mutation is apparently much more common than MPDs. | 0.351660654 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 16675707 | 3717 | JAK2 | umls:C0027022 | BeFree | Recent information regarding disease pathogenesis, including a contribution to the myeloproliferative disorder phenotype by a gain-of-function JAK2 mutation (JAK2(V617F)), has revived the prospect of targeted therapeutics as well as molecular monitoring of treatment response. | 0.351660654 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 18948049 | 3717 | JAK2 | umls:C0027022 | BeFree | More recently, we demonstrated that constitutive phosphorylation of Lu/BCAM is also involved in abnormal RBC adhesion to endothelium in patients with polycythemia vera (PV), a frequent myeloproliferative disorders associated with the V617F mutation of the tyrosine kinase JAK2 leading to continuous stimulation of erythropoiesis. | 0.351660654 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 26071474 | 5542 | PRB1 | umls:C0027022 | BeFree | In the current study, mutations of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CALR exon 9 were analyzed in 929 Chinese patients with BCR-ABL1-negative MPN, including 234 cases of polycythemia vera (PV), 428 ETs, 187 PMFs, and 80 unclassifiable MPNs (MPN-Us). | 0.000542884 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 23558526 | 3717 | JAK2 | umls:C0027022 | BeFree | A role for reactive oxygen species in JAK2 V617F myeloproliferative neoplasm progression. | 0.351660654 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 17006961 | 3717 | JAK2 | umls:C0027022 | BeFree | Because of the clinical importance of this mutation (JAK2 V617F) in diagnosing myeloproliferative disorders and its relevance for disease progression, we developed a semi-quantitative real-time PCR test to detect JAK2 V617F. | 0.351660654 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 22579713 | 4602 | MYB | umls:C0027022 | BeFree | The HDAC inhibitor Givinostat modulates the hematopoietic transcription factors NFE2 and C-MYB in JAK2(V617F) myeloproliferative neoplasm cells. | 0.002995792 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 19466975 | 25 | ABL1 | umls:C0027022 | BeFree | Data on angiogenesis in the bone marrow of BCR-ABL1-negative myeloproliferative neoplasm (MPN) patients suggest an increase of the microvessel density (MVD) and vascular endothelial growth factor (VEGF) expression, but relations to the JAK2-V617F status remain controversial. | 0.01737228 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 18723264 | 3717 | JAK2 | umls:C0027022 | BeFree | We conclude that the extent of JAK2(V617F) CD34(+) cell clonal dominance is associated with disease phenotype within the MPD and, in PV, is associated with extramedullary disease, leukocytosis, and disease duration. | 0.351660654 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 18843287 | 3717 | JAK2 | umls:C0027022 | BeFree | These results establish a role for JunB in normal erythropoiesis and indicate that JunB may play a major role in the development of JAK2 V617F myeloproliferative disorders. | 0.351660654 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 18464114 | 3717 | JAK2 | umls:C0027022 | BeFree | As JAK2 V617F, MPL W515L is a novel acquired mutation that induces constitutive cytokine-independent activation of the JAK-STAT pathway in myeloproliferative disorders (MPD). | 0.351660654 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 16781478 | 3717 | JAK2 | umls:C0027022 | BeFree | In addition, Bcr/Abl-negative classic myeloproliferative disorders are characterized by recurrent JAK2(V617F) mutations, whereas other mutations affecting the RAS signaling pathway molecules have been associated with juvenile myelomonocytic leukemia. | 0.351660654 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 17145859 | 3717 | JAK2 | umls:C0027022 | BeFree | We show that transplantation of JAK2(V617F)-transduced bone marrow into BALB/c mice induces MPD reminiscent of human PV, characterized by erythrocytosis, granulocytosis, extramedullary hematopoiesis, and bone marrow fibrosis, but not thrombocytosis. | 0.351660654 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 25746303 | 4352 | MPL | umls:C0027022 | BeFree | We studied 1088 Chinese with diverse myeloproliferative neoplasms including ET (N=234) and PMF (N=50) without JAK2(V617F) or MPL exon 10 mutations. | 0.036633516 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 22469236 | 3717 | JAK2 | umls:C0027022 | BeFree | In this retrospective cohort study, patients with cerebral venous thrombosis were tested for the JAK2 V617F mutation and were followed until the development of a myeloproliferative neoplasm or censored at the end of follow-up. | 0.351660654 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 16810609 | 3717 | JAK2 | umls:C0027022 | BeFree | MPD-specific markers such as serum EPO, endogenous erythroid colony formation (EEC), and JAK2 V617F have high specificities, but the sensitivities are not high enough to detect the early stages of the MPDs, ET, PV, and prefibrotic CIMF. | 0.351660654 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 16373657 | 3717 | JAK2 | umls:C0027022 | BeFree | Relation between JAK2 (V617F) mutation status, granulocyte activation, and constitutive mobilization of CD34+ cells into peripheral blood in myeloproliferative disorders. | 0.351660654 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 16373657 | 947 | CD34 | umls:C0027022 | BeFree | We studied the relationship between granulocyte JAK2 (V617F) mutation status, circulating CD34(+) cells, and granulocyte activation in myeloproliferative disorders. | 0.002442977 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 18575049 | 25 | ABL1 | umls:C0027022 | BeFree | Because JAK2 V617F is specific for myeloid neoplasms, and because it can be detected in peripheral blood granulocytes, it offers a powerful tool that facilitates the diagnosis of these BCR-ABL negative myeloproLiferative disorders. | 0.01737228 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 17317861 | 3717 | JAK2 | umls:C0027022 | BeFree | The myeloproliferative disorder-associated JAK2 V617F mutant escapes negative regulation by suppressor of cytokine signaling 3. | 0.351660654 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 20133898 | 3717 | JAK2 | umls:C0027022 | BeFree | Since variability in the JAK2(V617F) allele burden is partly responsible for the distinct phenotypes seen in the myeloproliferative disorders, the objective of this study was to identify modifiers of the allele burden. | 0.351660654 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 16810614 | 3717 | JAK2 | umls:C0027022 | BeFree | The main conclusion is that JAK2 V617F is a 100% specific clue to a new distinct clonal myeloproliferative disorder. | 0.351660654 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 19797525 | 947 | CD34 | umls:C0027022 | BeFree | Multiple iPS cell lines were also generated from peripheral blood CD34(+) cells of 2 patients with myeloproliferative disorders (MPDs) who acquired the JAK2-V617F somatic mutation in their blood cells. | 0.002442977 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 17698191 | 3717 | JAK2 | umls:C0027022 | BeFree | A new MALDI-TOF-based assay for monitoring JAK2 V617F mutation level in patients undergoing allogeneic stem cell transplantation (allo SCT) for classic myeloproliferative disorders (MPD). | 0.351660654 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 23420150 | 3717 | JAK2 | umls:C0027022 | BeFree | The JAK2 46/1 haplotype has recently been described as a major contributing factor to the development of myeloproliferative neoplasm, whether positive or negative forthe JAK2 V617F mutation. | 0.351660654 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 25479752 | 3717 | JAK2 | umls:C0027022 | BeFree | In mice, tamoxifen treatment blocked development of JAK2(V617F)-induced myeloproliferative neoplasm in vivo, induced apoptosis of human JAK2(V617F+) HSPCs in a xenograft model, and sensitized MLL-AF9(+) leukemias to chemotherapy. | 0.351660654 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 20028972 | 3717 | JAK2 | umls:C0027022 | BeFree | STAT5 activation is critical for the transformation mediated by myeloproliferative disorder-associated JAK2 V617F mutant. | 0.351660654 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 17194663 | 3717 | JAK2 | umls:C0027022 | BeFree | Discovery of a constitutively activating point mutation of the Janus kinase 2 (JAK2) receptor-associated tyrosine kinase in patients with polycythemia vera (PV) and other BCR/ABL-negative myeloproliferative disorders prompted many groups around the world to examine diverse subsets of patients with myeloid diseases for the prevalence of the JAK2 V617F mutation and its clinical and pathological associations. | 0.351660654 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 19176988 | 3717 | JAK2 | umls:C0027022 | BeFree | A clear link appears to exist between leukocytosis, JAK2(V617F), and the hemostatic system activation in patients with Bcl-negative myeloproliferative disorders. | 0.351660654 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 19474426 | 54790 | TET2 | umls:C0027022 | BeFree | TET2 defects were present in hematopoietic stem cells and preceded the JAK2 V617F mutation in the five samples from patients with myeloproliferative disorders that we analyzed. | 0.012182547 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 16831057 | 3717 | JAK2 | umls:C0027022 | BeFree | Detection of the JAK2(V617F) mutation in myeloproliferative disorders by melting curve analysis using the LightCycler system. | 0.351660654 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 25538080 | 3717 | JAK2 | umls:C0027022 | BeFree | Thus, targeting the pathway mediated by JAK and its downstream substrate, signal transducer and activator of transcription (STAT), may yield clinical benefit for patients with MPNs containing the JAK2(V617F) mutation. | 0.351660654 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 17984312 | 3717 | JAK2 | umls:C0027022 | BeFree | Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorders. | 0.351660654 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 18054634 | 3717 | JAK2 | umls:C0027022 | BeFree | Conventional diagnostic criteria for myeloproliferative disorders and the JAK2 V617F mutation (which is strongly associated with myeloproliferative disorders) were assessed in RVO patients showing EECs. | 0.351660654 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 25834519 | 3717 | JAK2 | umls:C0027022 | BeFree | We report a case of a 62-year-old black man with progressive abdominal swelling and features of decompensated chronic liver disease found to have SVT-portal vein thrombosis and how JAK2 V617F was useful in unmasking an underlying myeloproliferative neoplasm. | 0.351660654 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 20306156 | 3717 | JAK2 | umls:C0027022 | BeFree | Recently, Janus kinase-2 (JAK2) V617F mutation has an important role in the diagnosis of myeloproliferative disorders, especially in polycythemia vera (PV). | 0.351660654 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 23057517 | 4352 | MPL | umls:C0027022 | BeFree | Molecular genetic assays for the detection of the JAK2 V617F (c.1849G>T) and other pathogenetic mutations within JAK2 exon 12 and MPL exon 10 are part of the routine diagnostic workup for patients presenting with erythrocytosis, thrombocytosis or otherwise suspected to have a myeloproliferative neoplasm. | 0.036633516 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 16225651 | 3717 | JAK2 | umls:C0027022 | BeFree | An association between an activating JAK2 mutation (JAK2(V617F)) and BCR/ABL-negative myeloproliferative disorders was recently reported in multiple simultaneous publications. | 0.351660654 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 19564637 | 3717 | JAK2 | umls:C0027022 | BeFree | The JAK2(V617F) mutation does not elucidate the phenotypic variability observed in myeloproliferative neoplasm (MPN) families. | 0.351660654 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 25288776 | 3717 | JAK2 | umls:C0027022 | BeFree | The V617F mutation in the JAK2 non-receptor tyrosine kinase (JAK2V617F) is present as an early somatic event in most patients with myeloproliferative neoplasms (MPNs), and the study of these chronic myeloid malignancies provides an experimentally tractable approach to understanding early tumorigenesis. | 0.351660654 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 17022694 | 3717 | JAK2 | umls:C0027022 | BeFree | Detection of acquired Janus kinase 2 V617F mutation in myeloproliferative disorders by fluorescence melting curve analysis. | 0.351660654 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 18815196 | 8651 | SOCS1 | umls:C0027022 | BeFree | SOCS1 expression was raised in myeloproliferative disorder granulocytes but the level was independent of JAK2 V617F status. | 0.006534468 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 19047681 | 3717 | JAK2 | umls:C0027022 | BeFree | We developed a real-time copy number polymerase chain reaction assay for deletions on chromosome 20q (del20q), screened peripheral blood granulocytes from 664 patients with myeloproliferative disorders, and identified 19 patients with del20q (2.9%), of which 14 (74%) were also positive for JAK2-V617F. | 0.351660654 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 20966544 | 3717 | JAK2 | umls:C0027022 | BeFree | Recently, a single gain-of-function point mutation of JAK2 was described in myeloproliferative diseases leading to constitutive Jak2 kinase activity, subsequent Stat5a/b activation and involvement of V617F Jak2 in the pathogenesis of myeloproliferative disorders. | 0.351660654 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 17045648 | 3717 | JAK2 | umls:C0027022 | BeFree | Correlations of JAK2-V617F mutation with clinical and laboratory findings in patients with myeloproliferative disorders. | 0.351660654 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 20489053 | 3717 | JAK2 | umls:C0027022 | BeFree | The JAK2 V617F mutation is found in most patients with a myeloproliferative neoplasm and is sufficient to produce a myeloproliferative phenotype in murine retroviral transplantation or transgenic models. | 0.351660654 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 20425335 | 3717 | JAK2 | umls:C0027022 | BeFree | The JAK2(V617F) tyrosine kinase mutation in myeloproliferative disorders: Summary of published literature and a perspective. | 0.351660654 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 17574970 | 3717 | JAK2 | umls:C0027022 | BeFree | In an MPD with t(9;12)(q13 approximately q21;q22) and JAK2 V617F mutation, array comparative genomic hybridization delineated a deletion of about 3 Mb at 9q13 approximately q21 and a deletion of about 2 Mb at 12q22 containing SOCS2. | 0.351660654 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 20028972 | 6776 | STAT5A | umls:C0027022 | BeFree | STAT5 activation is critical for the transformation mediated by myeloproliferative disorder-associated JAK2 V617F mutant. | 0.000814326 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 23111067 | 3717 | JAK2 | umls:C0027022 | BeFree | Givinostat and hydroxyurea synergize in vitro to induce apoptosis of cells from JAK2(V617F) myeloproliferative neoplasm patients. | 0.351660654 | 2013 | NA | NA | NA | NA | NA |
| rs4495487 | 22251709 | 3717 | JAK2 | umls:C0027022 | BeFree | The C allele of JAK2 rs4495487 is an additional candidate locus that contributes to myeloproliferative neoplasm predisposition in the Japanese population. | 0.351660654 | 2012 | JAK2;INSL6 | 9 | 5072798 | T | C |
| rs77375493 | 17266061 | 3717 | JAK2 | umls:C0027022 | BeFree | Analysis of JAK2(V617F) mutation in Chinese patients with myeloproliferative disorders. | 0.351660654 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25288776 | 3717 | JAK2 | umls:C0027022 | BeFree | The V617F mutation in the JAK2 non-receptor tyrosine kinase (JAK2V617F) is present as an early somatic event in most patients with myeloproliferative neoplasms (MPNs), and the study of these chronic myeloid malignancies provides an experimentally tractable approach to understanding early tumorigenesis. | 0.351660654 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19816006 | 3717 | JAK2 | umls:C0027022 | BeFree | Our results seem to confirm that CLL cases are negative for JAK2(V617F) mutation in B- and T-lymphocyte populations.Presence of JAK2(V617F) mutation in subjects without myeloproliferative diseases could indicate an increased risk of a future myeloproliferative neoplasm development. | 0.351660654 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18796251 | 3717 | JAK2 | umls:C0027022 | BeFree | Accordingly, it seems that the investigation for the V617F mutation of the JAK2 gene is not mandatory in all Mexican mestizo patients with unexplained thrombophilia and that this genetic study should be reserved for special cases, such as patients with thrombosis in uncommon sites or patients with cell counts suggesting the presence of an underlying MPD. | 0.351660654 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22696908 | 3717 | JAK2 | umls:C0027022 | BeFree | All idiopathic IAVT patients must be screened for JAK2(V617F) mutation to detect latent MPD. | 0.351660654 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23300995 | 4953 | ODC1 | umls:C0027022 | BeFree | Critical roles of Myc-ODC axis in the cellular transformation induced by myeloproliferative neoplasm-associated JAK2 V617F mutant. | 0.000271442 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20966544 | 3717 | JAK2 | umls:C0027022 | BeFree | Recently, a single gain-of-function point mutation of JAK2 was described in myeloproliferative diseases leading to constitutive Jak2 kinase activity, subsequent Stat5a/b activation and involvement of V617F Jak2 in the pathogenesis of myeloproliferative disorders. | 0.351660654 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20153505 | 3717 | JAK2 | umls:C0027022 | BeFree | We conclude that JAK2 V617F mutation is uncommon in the 3q21q26 syndrome and that its presence may indicate an unusual coexistence of a myeloproliferative neoplasm. | 0.351660654 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23111067 | 3717 | JAK2 | umls:C0027022 | BeFree | Givinostat and hydroxyurea synergize in vitro to induce apoptosis of cells from JAK2(V617F) myeloproliferative neoplasm patients. | 0.351660654 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16998940 | 3717 | JAK2 | umls:C0027022 | BeFree | JAK2 (V617F) as an acquired somatic mutation and a secondary genetic event associated with disease progression in familial myeloproliferative disorders. | 0.351660654 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 26071474 | 3717 | JAK2 | umls:C0027022 | BeFree | In the current study, mutations of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CALR exon 9 were analyzed in 929 Chinese patients with BCR-ABL1-negative MPN, including 234 cases of polycythemia vera (PV), 428 ETs, 187 PMFs, and 80 unclassifiable MPNs (MPN-Us). | 0.351660654 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16946305 | 3717 | JAK2 | umls:C0027022 | BeFree | The data suggest that the JAK2(V617F) mutation is apparently much more common than MPDs. | 0.351660654 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18723264 | 947 | CD34 | umls:C0027022 | BeFree | We conclude that the extent of JAK2(V617F) CD34(+) cell clonal dominance is associated with disease phenotype within the MPD and, in PV, is associated with extramedullary disease, leukocytosis, and disease duration. | 0.002442977 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23300995 | 3717 | JAK2 | umls:C0027022 | BeFree | Critical roles of Myc-ODC axis in the cellular transformation induced by myeloproliferative neoplasm-associated JAK2 V617F mutant. | 0.351660654 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17022694 | 3717 | JAK2 | umls:C0027022 | BeFree | Detection of acquired Janus kinase 2 V617F mutation in myeloproliferative disorders by fluorescence melting curve analysis. | 0.351660654 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23057517 | 4352 | MPL | umls:C0027022 | BeFree | Molecular genetic assays for the detection of the JAK2 V617F (c.1849G>T) and other pathogenetic mutations within JAK2 exon 12 and MPL exon 10 are part of the routine diagnostic workup for patients presenting with erythrocytosis, thrombocytosis or otherwise suspected to have a myeloproliferative neoplasm. | 0.036633516 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19016916 | 3717 | JAK2 | umls:C0027022 | BeFree | The discovery of JAK2 V617F mutation has shed light on understanding of the molecular pathways involved in the pathogenesis of the myeloproliferative disorders. | 0.351660654 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18328792 | 3717 | JAK2 | umls:C0027022 | BeFree | A sensitive assay for the JAK2 V617F mutation has the potential to diagnose atypical MPDs in multiple undiagnosed cases of intra-abdominal thrombosis and therefore alter the management and prognosis of these patients. | 0.351660654 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25345590 | 3717 | JAK2 | umls:C0027022 | BeFree | The acquired JAK2 V617F mutation is common in patients with myeloproliferative neoplasms. | 0.351660654 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16810609 | 4597 | MVD | umls:C0027022 | BeFree | Bone marrow histopathology in addition to clinical, laboratory, biological, and molecular markers, including the JAK2 V617 PCR test, serum EPO, PRV-1, EEC, LAP score, peripheral blood parameters, and spleen size on echogram will detect the early stages of MPD and allows diagnostic differentiation of the three primary MPDs (ET, PV, and CIMF) in both JAK2 V617F-positive and JAK2 wild-type MPD patients. | 0.002442977 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 24951423 | 3717 | JAK2 | umls:C0027022 | BeFree | JAK2(V617F), the main mutation involved in MPN, is considered as a risk factor for thrombosis, although the direct link between the mutation and hemostatic disorders is not strictly established. | 0.351660654 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19482442 | 3717 | JAK2 | umls:C0027022 | BeFree | The JAK2 [V617F] mutation has recently been recognised as critical to the pathogenesis of the myeloproliferative disorders (MPDs). | 0.351660654 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16456375 | 3717 | JAK2 | umls:C0027022 | BeFree | The major incentives for this review have been the recent description of an activating JAK2 tyrosine kinase mutation (JAK2 (V617F)) in essential thrombocythemia, related myeloproliferative disorders, and the impact on clinical practice from the publication of a major treatment trial. | 0.351660654 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25012914 | 2046 | EPHA8 | umls:C0027022 | BeFree | Discovery of the protein tyrosine kinase JAK2 V617F allele contributed to better understanding of the pathogenetic mechanisms of MPNs. | 0.000542884 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20028972 | 6777 | STAT5B | umls:C0027022 | BeFree | STAT5 activation is critical for the transformation mediated by myeloproliferative disorder-associated JAK2 V617F mutant. | 0.000542884 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16373657 | 947 | CD34 | umls:C0027022 | BeFree | We studied the relationship between granulocyte JAK2 (V617F) mutation status, circulating CD34(+) cells, and granulocyte activation in myeloproliferative disorders. | 0.002442977 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16916724 | 3717 | JAK2 | umls:C0027022 | BeFree | We aimed to determine the relative sensitivity of four separate molecular assays used to detect the presence of the JAK2 V617F mutation in peripheral blood from patients with essential thrombocythaemia and related myeloproliferative disorders. | 0.351660654 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19693645 | 3717 | JAK2 | umls:C0027022 | BeFree | Mesenteric venous thrombosis secondary to an unsuspected JAK2 V617F-positive myeloproliferative disorder. | 0.351660654 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17006961 | 3717 | JAK2 | umls:C0027022 | BeFree | Because of the clinical importance of this mutation (JAK2 V617F) in diagnosing myeloproliferative disorders and its relevance for disease progression, we developed a semi-quantitative real-time PCR test to detect JAK2 V617F. | 0.351660654 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16081684 | 3717 | JAK2 | umls:C0027022 | BeFree | Altered gene expression in myeloproliferative disorders correlates with activation of signaling by the V617F mutation of Jak2. | 0.351660654 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17384217 | 3717 | JAK2 | umls:C0027022 | BeFree | Quantitative determination of JAK2 V617F by TaqMan: An absolute measure of averaged copies per cell that may be associated with the different types of myeloproliferative disorders. | 0.351660654 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18003935 | 10148 | EBI3 | umls:C0027022 | BeFree | Finally, we show that IL-27R can functionally replace a homodimeric type I cytokine receptor in the activation of JAK2-V617F, a critical JAK2 mutation in various myeloproliferative disorders (MPDs). | 0.000542884 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18336541 | 3717 | JAK2 | umls:C0027022 | BeFree | The JAK2-V617F mutation can be frequently detected in the Taiwanese patients with MPD disorders and therefore should be incorporated into the initial evaluation of patients suspected of MPD. | 0.351660654 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20028972 | 6776 | STAT5A | umls:C0027022 | BeFree | STAT5 activation is critical for the transformation mediated by myeloproliferative disorder-associated JAK2 V617F mutant. | 0.000814326 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19047681 | 3717 | JAK2 | umls:C0027022 | BeFree | We developed a real-time copy number polymerase chain reaction assay for deletions on chromosome 20q (del20q), screened peripheral blood granulocytes from 664 patients with myeloproliferative disorders, and identified 19 patients with del20q (2.9%), of which 14 (74%) were also positive for JAK2-V617F. | 0.351660654 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17384221 | 3717 | JAK2 | umls:C0027022 | BeFree | An acquired mutation in Janus kinase 2 (JAK2), V617F, has recently been identified in human myeloproliferative disorders. | 0.351660654 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18054634 | 3717 | JAK2 | umls:C0027022 | BeFree | Conventional diagnostic criteria for myeloproliferative disorders and the JAK2 V617F mutation (which is strongly associated with myeloproliferative disorders) were assessed in RVO patients showing EECs. | 0.351660654 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20966544 | 6776 | STAT5A | umls:C0027022 | BeFree | Recently, a single gain-of-function point mutation of JAK2 was described in myeloproliferative diseases leading to constitutive Jak2 kinase activity, subsequent Stat5a/b activation and involvement of V617F Jak2 in the pathogenesis of myeloproliferative disorders. | 0.000814326 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19797525 | 947 | CD34 | umls:C0027022 | BeFree | Multiple iPS cell lines were also generated from peripheral blood CD34(+) cells of 2 patients with myeloproliferative disorders (MPDs) who acquired the JAK2-V617F somatic mutation in their blood cells. | 0.002442977 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19004076 | 3717 | JAK2 | umls:C0027022 | BeFree | The role of screening for the JAK2 V617F mutation in patients presenting with thrombosis without overt MPD is unclear, but appears justified in cases of idiopathic splanchnic vein thrombosis. | 0.351660654 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16810614 | 3717 | JAK2 | umls:C0027022 | BeFree | The main conclusion is that JAK2 V617F is a 100% specific clue to a new distinct clonal myeloproliferative disorder. | 0.351660654 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17408106 | 3717 | JAK2 | umls:C0027022 | BeFree | A new mutation (V617F) affecting the JAK2 gene has been recently described as acquired in patients with myeloproliferative disorders and other myeloid malignancies. | 0.351660654 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19939582 | 3717 | JAK2 | umls:C0027022 | BeFree | JAK2-V617F mutation in Moroccan patients with myeloproliferative disorders: contribution, diagnosis and therapeutic prospects. | 0.351660654 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19466975 | 613 | BCR | umls:C0027022 | BeFree | Data on angiogenesis in the bone marrow of BCR-ABL1-negative myeloproliferative neoplasm (MPN) patients suggest an increase of the microvessel density (MVD) and vascular endothelial growth factor (VEGF) expression, but relations to the JAK2-V617F status remain controversial. | 0.128153188 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18528646 | 3717 | JAK2 | umls:C0027022 | BeFree | A single mutation 1849G>T in the JAK2 gene (V617F) has recently been described in classical myeloproliferative disorders (MPD). | 0.351660654 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25746303 | 3717 | JAK2 | umls:C0027022 | BeFree | We studied 1088 Chinese with diverse myeloproliferative neoplasms including ET (N=234) and PMF (N=50) without JAK2(V617F) or MPL exon 10 mutations. | 0.351660654 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18160670 | 3717 | JAK2 | umls:C0027022 | BeFree | An acquired somatic mutation in the JAK2 gene (JAK2-V617F) is present in the majority of patients with myeloproliferative disorders (MPDs). | 0.351660654 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16225651 | 3717 | JAK2 | umls:C0027022 | BeFree | An association between an activating JAK2 mutation (JAK2(V617F)) and BCR/ABL-negative myeloproliferative disorders was recently reported in multiple simultaneous publications. | 0.351660654 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19564637 | 3717 | JAK2 | umls:C0027022 | BeFree | The JAK2(V617F) mutation does not elucidate the phenotypic variability observed in myeloproliferative neoplasm (MPN) families. | 0.351660654 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16408098 | 3717 | JAK2 | umls:C0027022 | BeFree | JAK2 V617F tyrosine kinase mutation in cell lines derived from myeloproliferative disorders. | 0.351660654 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19216843 | 3717 | JAK2 | umls:C0027022 | BeFree | Although the Jak2-V617F mutation has generated strong awareness because of its causative role in myeloproliferative disorders, reports of Jak2 gene aberrations linked to hematologic malignancies have preceded those of V617F by nearly a decade. | 0.351660654 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21198321 | 3717 | JAK2 | umls:C0027022 | BeFree | JAK2 V617F gene mutation in the laboratory work-up of myeloproliferative disorders: experience of a major referral center in Lebanon. | 0.351660654 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17059429 | 3717 | JAK2 | umls:C0027022 | BeFree | Determination of the JAK2 V617F mutation may contribute to the search for genetic determinants of PMVT and may be useful to recognize patients who should be carefully observed for the subsequent development of overt MPDs. | 0.351660654 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23391844 | 3717 | JAK2 | umls:C0027022 | BeFree | In contrast, this same mutation has been detected in only 4 patients with CNL to date, suggesting that the JAK2 V617F mutation is a rare event in patients with atypical MPD. | 0.351660654 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16810609 | 3717 | JAK2 | umls:C0027022 | BeFree | MPD-specific markers such as serum EPO, endogenous erythroid colony formation (EEC), and JAK2 V617F have high specificities, but the sensitivities are not high enough to detect the early stages of the MPDs, ET, PV, and prefibrotic CIMF. | 0.351660654 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17363731 | 3717 | JAK2 | umls:C0027022 | BeFree | Leukemic blasts in transformed JAK2-V617F-positive myeloproliferative disorders are frequently negative for the JAK2-V617F mutation. | 0.351660654 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19521323 | 3717 | JAK2 | umls:C0027022 | BeFree | The discovery that many patients with polycythemia vera, essential thrombocythemia, and primary myelofibrosis express a mutation in the Janus Kinase 2 gene (JAK2 V617F), a kinase essential for the normal development of erythrocytes, granulocytes, and platelets, provided a molecular explanation for the unregulated hematopoiesis typical of these disorders, a diagnostic test that distinguishes them from other types of myeloproliferative disorders, and an opportunity to develop targeted therapy that could potentially avoid the toxicities associated with the conventional chemotherapeutic agents currently employed in their treatment. | 0.351660654 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21435189 | 3717 | JAK2 | umls:C0027022 | BeFree | The prevalence of overt MPN and that of JAK2 V617F were lower in Korean patients with SVT than in previous reports. | 0.351660654 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17687555 | 3717 | JAK2 | umls:C0027022 | BeFree | JAK2(V617F) positive early stage myeloproliferative disease (essential thrombocythemia) as the cause of portal vein thrombosis in two middle-aged women: therapeutic implications in view of the literature. | 0.351660654 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16675707 | 3717 | JAK2 | umls:C0027022 | BeFree | Recent information regarding disease pathogenesis, including a contribution to the myeloproliferative disorder phenotype by a gain-of-function JAK2 mutation (JAK2(V617F)), has revived the prospect of targeted therapeutics as well as molecular monitoring of treatment response. | 0.351660654 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17251334 | 3717 | JAK2 | umls:C0027022 | BeFree | However, the recent identification of a V617F mutation in the JH2 domain of the JAK2 gene in a high proportion of patients suffering from MPDs may provide confirmation of a diagnosis. | 0.351660654 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21933004 | 3717 | JAK2 | umls:C0027022 | BeFree | Janus kinase 2 (JAK2) V617F mutation testing has revolutionized the classification of myeloproliferative disorders, for which several tests have been introduced for qualitative and quantitative diagnostics including the MutaScreen and MutaQuant kits by IPSOGEN. | 0.351660654 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18055983 | 3717 | JAK2 | umls:C0027022 | BeFree | Four novel JAK2 mutant alleles have recently been described in patients with V617F-negative myeloproliferative disorders presenting with erythrocytosis. | 0.351660654 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19474426 | 3717 | JAK2 | umls:C0027022 | BeFree | TET2 defects were present in hematopoietic stem cells and preceded the JAK2 V617F mutation in the five samples from patients with myeloproliferative disorders that we analyzed. | 0.351660654 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18575049 | 25 | ABL1 | umls:C0027022 | BeFree | Because JAK2 V617F is specific for myeloid neoplasms, and because it can be detected in peripheral blood granulocytes, it offers a powerful tool that facilitates the diagnosis of these BCR-ABL negative myeloproLiferative disorders. | 0.01737228 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25912019 | 947 | CD34 | umls:C0027022 | BeFree | BMS-911543 is a JAK2-selective inhibitor that induces apoptosis in JAK2-dependent cell lines and inhibits the growth of CD34(+) progenitor cells from patients with JAK2(V617F)-positive MPN. | 0.002442977 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25746303 | 4352 | MPL | umls:C0027022 | BeFree | We studied 1088 Chinese with diverse myeloproliferative neoplasms including ET (N=234) and PMF (N=50) without JAK2(V617F) or MPL exon 10 mutations. | 0.036633516 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16831057 | 3717 | JAK2 | umls:C0027022 | BeFree | Detection of the JAK2(V617F) mutation in myeloproliferative disorders by melting curve analysis using the LightCycler system. | 0.351660654 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18815196 | 3717 | JAK2 | umls:C0027022 | BeFree | SOCS3 transcript levels were highest in patients with polycythemia vera and other JAK2 V617F positive myeloproliferative disorders, consistent with SOCS3 being a target gene of JAK2/STAT5 signaling. | 0.351660654 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18464114 | 3717 | JAK2 | umls:C0027022 | BeFree | As JAK2 V617F, MPL W515L is a novel acquired mutation that induces constitutive cytokine-independent activation of the JAK-STAT pathway in myeloproliferative disorders (MPD). | 0.351660654 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19176988 | 3717 | JAK2 | umls:C0027022 | BeFree | A clear link appears to exist between leukocytosis, JAK2(V617F), and the hemostatic system activation in patients with Bcl-negative myeloproliferative disorders. | 0.351660654 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18245948 | 3717 | JAK2 | umls:C0027022 | BeFree | In 2005, a point mutation in JAK2 (JAK2-V617F) was identified in a number of neoplastic myeloproliferative disorders, ushering in a new era of JAK2 research. | 0.351660654 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17984312 | 3717 | JAK2 | umls:C0027022 | BeFree | Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorders. | 0.351660654 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20133898 | 3717 | JAK2 | umls:C0027022 | BeFree | Since variability in the JAK2(V617F) allele burden is partly responsible for the distinct phenotypes seen in the myeloproliferative disorders, the objective of this study was to identify modifiers of the allele burden. | 0.351660654 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18600099 | 3717 | JAK2 | umls:C0027022 | BeFree | The discovery of the Janus kinase 2 Val617Phe mutation has brought new insights into the development of myeloproliferative disorders; however, the pathogenesis of essential thrombocythemia and its related thrombotic complications has not been completely understood. | 0.351660654 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18245540 | 3717 | JAK2 | umls:C0027022 | BeFree | The discovery of an activating somatic mutation in codon 617 of the gene encoding the Janus kinase (JAK)-2 (JAK2 V617F) in patients with myeloproliferative disorders has opened new avenues for the development of targeted therapies for these malignancies. | 0.351660654 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22579713 | 4778 | NFE2 | umls:C0027022 | BeFree | The HDAC inhibitor Givinostat modulates the hematopoietic transcription factors NFE2 and C-MYB in JAK2(V617F) myeloproliferative neoplasm cells. | 0.000542884 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 24858412 | 3717 | JAK2 | umls:C0027022 | BeFree | Association between thromboembolic events and the JAK2 V617F mutation in myeloproliferative neoplasms. | 0.351660654 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17317861 | 3717 | JAK2 | umls:C0027022 | BeFree | The myeloproliferative disorder-associated JAK2 V617F mutant escapes negative regulation by suppressor of cytokine signaling 3. | 0.351660654 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19466975 | 3717 | JAK2 | umls:C0027022 | BeFree | In addition, it provides evidence that despite the fact that angiogenesis is generally independent of the JAK2-V617F status in MPN, new vessel formation might be linked to Jak2 effects in some cases with high JAK2-V617F mutant allele burden. | 0.351660654 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17045648 | 3717 | JAK2 | umls:C0027022 | BeFree | Correlations of JAK2-V617F mutation with clinical and laboratory findings in patients with myeloproliferative disorders. | 0.351660654 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16373657 | 3717 | JAK2 | umls:C0027022 | BeFree | Relation between JAK2 (V617F) mutation status, granulocyte activation, and constitutive mobilization of CD34+ cells into peripheral blood in myeloproliferative disorders. | 0.351660654 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17145859 | 3717 | JAK2 | umls:C0027022 | BeFree | We show that transplantation of JAK2(V617F)-transduced bone marrow into BALB/c mice induces MPD reminiscent of human PV, characterized by erythrocytosis, granulocytosis, extramedullary hematopoiesis, and bone marrow fibrosis, but not thrombocytosis. | 0.351660654 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25479752 | 5688 | PSMA7 | umls:C0027022 | BeFree | In mice, tamoxifen treatment blocked development of JAK2(V617F)-induced myeloproliferative neoplasm in vivo, induced apoptosis of human JAK2(V617F+) HSPCs in a xenograft model, and sensitized MLL-AF9(+) leukemias to chemotherapy. | 0.000271442 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18300758 | 3717 | JAK2 | umls:C0027022 | BeFree | The high prevalence of the V617F mutation of Janus kinase 2 and associated mutations in myeloproliferative disorders (> 95% in polycythemia vera and about half of patients with essential thrombocythemia and primary myelofibrosis) has led the World Health Organization to alter the diagnostic criteria for these myeloproliferative disorders, and these changes are reviewed. | 0.351660654 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 24963593 | 3717 | JAK2 | umls:C0027022 | BeFree | The JAK2 V617F mutation is highly prevalent in patients with myeloproliferative neoplasms (MPN). | 0.351660654 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16810609 | 2056 | EPO | umls:C0027022 | BeFree | MPD-specific markers such as serum EPO, endogenous erythroid colony formation (EEC), and JAK2 V617F have high specificities, but the sensitivities are not high enough to detect the early stages of the MPDs, ET, PV, and prefibrotic CIMF. | 0.000814326 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17178722 | 3717 | JAK2 | umls:C0027022 | BeFree | These data suggest that erlotinib may be used for treatment of JAK2(V617F)-positive PV and other myeloproliferative disorders. | 0.351660654 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22579713 | 3717 | JAK2 | umls:C0027022 | BeFree | The HDAC inhibitor Givinostat modulates the hematopoietic transcription factors NFE2 and C-MYB in JAK2(V617F) myeloproliferative neoplasm cells. | 0.351660654 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25479752 | 3717 | JAK2 | umls:C0027022 | BeFree | In mice, tamoxifen treatment blocked development of JAK2(V617F)-induced myeloproliferative neoplasm in vivo, induced apoptosis of human JAK2(V617F+) HSPCs in a xenograft model, and sensitized MLL-AF9(+) leukemias to chemotherapy. | 0.351660654 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25559461 | 3717 | JAK2 | umls:C0027022 | BeFree | The JAK2 V617F mutational status and allele burden may be related with the risk of venous thromboembolic events in patients with Philadelphia-negative myeloproliferative neoplasms. | 0.351660654 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25834519 | 3717 | JAK2 | umls:C0027022 | BeFree | We report a case of a 62-year-old black man with progressive abdominal swelling and features of decompensated chronic liver disease found to have SVT-portal vein thrombosis and how JAK2 V617F was useful in unmasking an underlying myeloproliferative neoplasm. | 0.351660654 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25912019 | 3717 | JAK2 | umls:C0027022 | BeFree | Limited efficacy of BMS-911543 in a murine model of Janus kinase 2 V617F myeloproliferative neoplasm. | 0.351660654 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18843287 | 3717 | JAK2 | umls:C0027022 | BeFree | These results establish a role for JunB in normal erythropoiesis and indicate that JunB may play a major role in the development of JAK2 V617F myeloproliferative disorders. | 0.351660654 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25538080 | 3717 | JAK2 | umls:C0027022 | BeFree | Thus, targeting the pathway mediated by JAK and its downstream substrate, signal transducer and activator of transcription (STAT), may yield clinical benefit for patients with MPNs containing the JAK2(V617F) mutation. | 0.351660654 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25012914 | 3717 | JAK2 | umls:C0027022 | BeFree | Discovery of the protein tyrosine kinase JAK2 V617F allele contributed to better understanding of the pathogenetic mechanisms of MPNs. | 0.351660654 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22132729 | 3717 | JAK2 | umls:C0027022 | BeFree | Recent studies have identified a recurrent somatic activating mutation (JAK2 V617F) in majority of patients with myeloproliferative disorders (MPDs). | 0.351660654 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22579713 | 4602 | MYB | umls:C0027022 | BeFree | The HDAC inhibitor Givinostat modulates the hematopoietic transcription factors NFE2 and C-MYB in JAK2(V617F) myeloproliferative neoplasm cells. | 0.002995792 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16285006 | 3717 | JAK2 | umls:C0027022 | BeFree | The V617F JAK2 mutation and the myeloproliferative disorders. | 0.351660654 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18032883 | 3717 | JAK2 | umls:C0027022 | BeFree | Presence of JAK2(V617F) in bone marrow might therefore increase the risk of future MPD development, just as monoclonal gammopathy of undetermined significance (MGUS) increases the risk of multiple myeloma. | 0.351660654 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20489053 | 3717 | JAK2 | umls:C0027022 | BeFree | The JAK2 V617F mutation is found in most patients with a myeloproliferative neoplasm and is sufficient to produce a myeloproliferative phenotype in murine retroviral transplantation or transgenic models. | 0.351660654 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25259626 | 3717 | JAK2 | umls:C0027022 | BeFree | The classical Philadelphia chromosome-negative myeloproliferative neoplasms consist of three main pathological and clinical entities with the recurrent JAK2 V617F mutation present in ∼98% of patients with polycythemia vera and ∼50% of patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF). | 0.351660654 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21118387 | 3717 | JAK2 | umls:C0027022 | BeFree | Laboratory testing for the presence of the V617F mutation in JAK2 has taken on great importance in the diagnosis of myeloproliferative disorders. | 0.351660654 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20728437 | 3717 | JAK2 | umls:C0027022 | BeFree | We studied the sensitivity and reproducibility of LightScanner™ platform in the detection of JAK2 V617F mutation and the availability for diagnostic use in MPN. | 0.351660654 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23057517 | 3717 | JAK2 | umls:C0027022 | BeFree | Molecular genetic assays for the detection of the JAK2 V617F (c.1849G>T) and other pathogenetic mutations within JAK2 exon 12 and MPL exon 10 are part of the routine diagnostic workup for patients presenting with erythrocytosis, thrombocytosis or otherwise suspected to have a myeloproliferative neoplasm. | 0.351660654 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23588264 | 3717 | JAK2 | umls:C0027022 | BeFree | The identification of Jak2(V617F) mutations in more than 90% of patients with polycythemia vera (PV) has greatly improved the diagnostic accuracy for this uncommon myeloproliferative disorder. | 0.351660654 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23300995 | 89874 | SLC25A21 | umls:C0027022 | BeFree | Critical roles of Myc-ODC axis in the cellular transformation induced by myeloproliferative neoplasm-associated JAK2 V617F mutant. | 0.000271442 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25015634 | 3717 | JAK2 | umls:C0027022 | BeFree | JAK2 V617F mutation is a molecular marker for myeloproliferative neoplasms (MPNs). | 0.351660654 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18216297 | 3717 | JAK2 | umls:C0027022 | BeFree | The V617F activating point mutation in Jak2 is associated with a proportion of myeloproliferative disorders. | 0.351660654 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18464114 | 6646 | SOAT1 | umls:C0027022 | BeFree | As JAK2 V617F, MPL W515L is a novel acquired mutation that induces constitutive cytokine-independent activation of the JAK-STAT pathway in myeloproliferative disorders (MPD). | 0.002171535 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 26235214 | 3717 | JAK2 | umls:C0027022 | BeFree | Microfluidics-based assays can reduce the assay time and sample/reagent consumption and enhance the reaction efficiency; however, no current assay has integrated isothermal amplification for point-of-care MPN JAK2 V617F mutation testing with a microchip. | 0.351660654 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18781401 | 3717 | JAK2 | umls:C0027022 | BeFree | The JAK2 V617F mutation has been implicated in a variety of diseases mainly related to myeloproliferative disorders including polycythemia Vera, essential thrombocythemia, and idiopathic Myelofibrosis but has not been previously described in Thalassemia patients. | 0.351660654 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19877761 | 3717 | JAK2 | umls:C0027022 | BeFree | The JAK2 V617F mutation has been implicated in a variety of diseases mainly related to myeloproliferative disorders including polycythemia vera, essential thrombocythemia, and idiopathic myelofibrosis with an increased demand for testing using molecular techniques. | 0.351660654 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16537803 | 3717 | JAK2 | umls:C0027022 | BeFree | Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families with myeloproliferative disorders. | 0.351660654 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21331593 | 3717 | JAK2 | umls:C0027022 | BeFree | A molecular fingerprint distinguishes JAK2(V617F)-positive MPN patients without response to HU treatment, with overexpression of JAK2, MAPK14, PIK3CA, and SFK genes. | 0.351660654 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19466975 | 25 | ABL1 | umls:C0027022 | BeFree | Data on angiogenesis in the bone marrow of BCR-ABL1-negative myeloproliferative neoplasm (MPN) patients suggest an increase of the microvessel density (MVD) and vascular endothelial growth factor (VEGF) expression, but relations to the JAK2-V617F status remain controversial. | 0.01737228 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18723264 | 3717 | JAK2 | umls:C0027022 | BeFree | We conclude that the extent of JAK2(V617F) CD34(+) cell clonal dominance is associated with disease phenotype within the MPD and, in PV, is associated with extramedullary disease, leukocytosis, and disease duration. | 0.351660654 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17596137 | 3717 | JAK2 | umls:C0027022 | BeFree | The JAK2 V617F mutation is associated with platelet activation, as measured by elevated sP-selectin levels, in MPD. | 0.351660654 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18003935 | 8809 | IL18R1 | umls:C0027022 | BeFree | Finally, we show that IL-27R can functionally replace a homodimeric type I cytokine receptor in the activation of JAK2-V617F, a critical JAK2 mutation in various myeloproliferative disorders (MPDs). | 0.000542884 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22469236 | 3717 | JAK2 | umls:C0027022 | BeFree | In this retrospective cohort study, patients with cerebral venous thrombosis were tested for the JAK2 V617F mutation and were followed until the development of a myeloproliferative neoplasm or censored at the end of follow-up. | 0.351660654 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19046316 | 3717 | JAK2 | umls:C0027022 | BeFree | The JAK2(V617F) tyrosine kinase mutation identifies clinically latent myeloproliferative disorders in patients presenting with hepatic or portal vein thrombosis. | 0.351660654 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16225651 | 25 | ABL1 | umls:C0027022 | BeFree | An association between an activating JAK2 mutation (JAK2(V617F)) and BCR/ABL-negative myeloproliferative disorders was recently reported in multiple simultaneous publications. | 0.01737228 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23558526 | 3717 | JAK2 | umls:C0027022 | BeFree | A role for reactive oxygen species in JAK2 V617F myeloproliferative neoplasm progression. | 0.351660654 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17194663 | 25 | ABL1 | umls:C0027022 | BeFree | Discovery of a constitutively activating point mutation of the Janus kinase 2 (JAK2) receptor-associated tyrosine kinase in patients with polycythemia vera (PV) and other BCR/ABL-negative myeloproliferative disorders prompted many groups around the world to examine diverse subsets of patients with myeloid diseases for the prevalence of the JAK2 V617F mutation and its clinical and pathological associations. | 0.01737228 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 24066127 | 3717 | JAK2 | umls:C0027022 | BeFree | Heterozygous and homozygous JAK2(V617F) states modeled by induced pluripotent stem cells from myeloproliferative neoplasm patients. | 0.351660654 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16293880 | 3717 | JAK2 | umls:C0027022 | BeFree | The nature of the specific oncogenic mutation(s) is currently being unraveled with the recent discovery of an association between a somatic point mutation of JAK2 tyrosine kinase (V617F) and bcr/abl-negative myeloproliferative disorders, including MMM. | 0.351660654 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16502590 | 3717 | JAK2 | umls:C0027022 | BeFree | Methods for the detection of the JAK2 V617F mutation in human myeloproliferative disorders. | 0.351660654 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16670266 | 3717 | JAK2 | umls:C0027022 | BeFree | Questions remain regarding the exact contribution of JAK2(V617F) in other myeloproliferative disorders. | 0.351660654 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 26071474 | 5542 | PRB1 | umls:C0027022 | BeFree | In the current study, mutations of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CALR exon 9 were analyzed in 929 Chinese patients with BCR-ABL1-negative MPN, including 234 cases of polycythemia vera (PV), 428 ETs, 187 PMFs, and 80 unclassifiable MPNs (MPN-Us). | 0.000542884 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 15860661 | 3717 | JAK2 | umls:C0027022 | BeFree | The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both atypical myeloproliferative disorders and myelodysplastic syndromes. | 0.351660654 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16781478 | 3717 | JAK2 | umls:C0027022 | BeFree | In addition, Bcr/Abl-negative classic myeloproliferative disorders are characterized by recurrent JAK2(V617F) mutations, whereas other mutations affecting the RAS signaling pathway molecules have been associated with juvenile myelomonocytic leukemia. | 0.351660654 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17698191 | 3717 | JAK2 | umls:C0027022 | BeFree | A new MALDI-TOF-based assay for monitoring JAK2 V617F mutation level in patients undergoing allogeneic stem cell transplantation (allo SCT) for classic myeloproliferative disorders (MPD). | 0.351660654 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16885051 | 3717 | JAK2 | umls:C0027022 | BeFree | The acquired mutation Val617Phe in the tyrosine kinase JAK2 was recently identified in most but not all patients with classical myeloproliferative disorders. | 0.351660654 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23469088 | 3717 | JAK2 | umls:C0027022 | BeFree | Non-reactive platelet counts elevation occurs mainly in myeloproliferative disorders (MPDs), which have been reported to be closely associated with JAK2 V617F mutation. | 0.351660654 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16330446 | 3717 | JAK2 | umls:C0027022 | BeFree | Although the V617F JAK2 mutation has been described by several groups to be associated with classical myeloproliferative disorders (MPD), this same mutation has been detected with a low incidence in atypical MPD, such as CNL. | 0.351660654 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20028972 | 3717 | JAK2 | umls:C0027022 | BeFree | STAT5 activation is critical for the transformation mediated by myeloproliferative disorder-associated JAK2 V617F mutant. | 0.351660654 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18188594 | 3717 | JAK2 | umls:C0027022 | BeFree | The diagnosis of a myeloproliferative disease could be corroborated by demonstration of the V617F mutation of JAK2. | 0.351660654 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20306156 | 3717 | JAK2 | umls:C0027022 | BeFree | Recently, Janus kinase-2 (JAK2) V617F mutation has an important role in the diagnosis of myeloproliferative disorders, especially in polycythemia vera (PV). | 0.351660654 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16810610 | 3717 | JAK2 | umls:C0027022 | BeFree | New insights into the pathogenesis of JAK2 V617F-positive myeloproliferative disorders and consequences for the management of patients. | 0.351660654 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18815196 | 8651 | SOCS1 | umls:C0027022 | BeFree | SOCS1 expression was raised in myeloproliferative disorder granulocytes but the level was independent of JAK2 V617F status. | 0.006534468 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17194663 | 3717 | JAK2 | umls:C0027022 | BeFree | Discovery of a constitutively activating point mutation of the Janus kinase 2 (JAK2) receptor-associated tyrosine kinase in patients with polycythemia vera (PV) and other BCR/ABL-negative myeloproliferative disorders prompted many groups around the world to examine diverse subsets of patients with myeloid diseases for the prevalence of the JAK2 V617F mutation and its clinical and pathological associations. | 0.351660654 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18003935 | 3717 | JAK2 | umls:C0027022 | BeFree | Finally, we show that IL-27R can functionally replace a homodimeric type I cytokine receptor in the activation of JAK2-V617F, a critical JAK2 mutation in various myeloproliferative disorders (MPDs). | 0.351660654 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19135773 | 3717 | JAK2 | umls:C0027022 | BeFree | Myeloproliferative disorders (MPDs) are often associated with the presence of the JAK2-V617F mutation in hematopoietic cells. | 0.351660654 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19478480 | 3717 | JAK2 | umls:C0027022 | BeFree | JAK2 V617F-positive latent essential thrombocythemia and splanchnic vein thrombosis: the role of bone marrow biopsy for the diagnosis of myeloproliferative disease. | 0.351660654 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17307838 | 3717 | JAK2 | umls:C0027022 | BeFree | In patients with SVT, screening for the JAK2 V617F mutation may be useful in recognising patients who should be carefully observed for the subsequent development of overt MPD. | 0.351660654 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17934351 | 3717 | JAK2 | umls:C0027022 | BeFree | A general theme is that JAK2 V617F is variably associated with thrombosis and, more consistently, associated with elevations in blood counts relative to mutation-negative myeloproliferative disorders; future preclinical research should focus on the pathophysiology of thrombosis in myeloproliferative disorders, particularly in terms of the relationship between dysregulated Janus kinase 2 and elevated blood counts. | 0.351660654 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18948049 | 3717 | JAK2 | umls:C0027022 | BeFree | More recently, we demonstrated that constitutive phosphorylation of Lu/BCAM is also involved in abnormal RBC adhesion to endothelium in patients with polycythemia vera (PV), a frequent myeloproliferative disorders associated with the V617F mutation of the tyrosine kinase JAK2 leading to continuous stimulation of erythropoiesis. | 0.351660654 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18059484 | 3717 | JAK2 | umls:C0027022 | BeFree | Such HLA-G5-mediated inhibition constitutes a new parameter to be considered in the design of future approaches aimed at treating JAK2 V617F-positive myeloproliferative disorders. | 0.351660654 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19474426 | 54790 | TET2 | umls:C0027022 | BeFree | TET2 defects were present in hematopoietic stem cells and preceded the JAK2 V617F mutation in the five samples from patients with myeloproliferative disorders that we analyzed. | 0.012182547 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18396750 | 3717 | JAK2 | umls:C0027022 | BeFree | We report two cases of patient with portal vein thrombosis of unknown origin in whom the presence of the V617F mutation of the Janus Kinase 2 gene lead to the diagnosis of primary myeloproliferative disorder, confirmed on bone marrow examination. | 0.351660654 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20425335 | 3717 | JAK2 | umls:C0027022 | BeFree | The JAK2(V617F) tyrosine kinase mutation in myeloproliferative disorders: Summary of published literature and a perspective. | 0.351660654 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17379069 | 3717 | JAK2 | umls:C0027022 | BeFree | However, several unanswered questions regarding the essential role of JAK2(V617F) arose as 1) it is not a dominant mutation, 2) it is not PV-specific as it is found in several myeloproliferative disorders, and 3) some ( approximately 20%) PV patients lack the JAK2(V617F) mutation. | 0.351660654 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20434300 | 3717 | JAK2 | umls:C0027022 | BeFree | A recent novel mutation in the Janus activated kinase 2 gene involving a gain-of-function substitute of valine to phenylalanine at position 617 (JAK2 V617F) has been discovered to be prevalent in patients with mesenteric vein thrombosis and myeloproliferative disorders. | 0.351660654 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17574970 | 3717 | JAK2 | umls:C0027022 | BeFree | In an MPD with t(9;12)(q13 approximately q21;q22) and JAK2 V617F mutation, array comparative genomic hybridization delineated a deletion of about 3 Mb at 9q13 approximately q21 and a deletion of about 2 Mb at 12q22 containing SOCS2. | 0.351660654 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25012914 | 2264 | FGFR4 | umls:C0027022 | BeFree | Discovery of the protein tyrosine kinase JAK2 V617F allele contributed to better understanding of the pathogenetic mechanisms of MPNs. | 0.000542884 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16901656 | 3717 | JAK2 | umls:C0027022 | BeFree | The first international meeting on V617F JAK2 mutation and its relevance in Philadelphia-negative myeloproliferative disorders. | 0.351660654 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16632470 | 3717 | JAK2 | umls:C0027022 | BeFree | The V617F activating point mutation in Jak2 has recently been associated with myeloproliferative disorders. | 0.351660654 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16627272 | 3717 | JAK2 | umls:C0027022 | BeFree | DNA from 161 samples was isolated from peripheral blood granulocytes and formalin-fixed bone marrow clot sections in patients with CMPDs and without myeloproliferative disorders previously genotyped for the JAK2 V617F (G-->T) mutation, which included 114 wild types (GG) and 47 mutants (GT and TT). | 0.351660654 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 26071474 | 83886 | PRSS27 | umls:C0027022 | BeFree | In the current study, mutations of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CALR exon 9 were analyzed in 929 Chinese patients with BCR-ABL1-negative MPN, including 234 cases of polycythemia vera (PV), 428 ETs, 187 PMFs, and 80 unclassifiable MPNs (MPN-Us). | 0.001085767 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19797525 | 3717 | JAK2 | umls:C0027022 | BeFree | Multiple iPS cell lines were also generated from peripheral blood CD34(+) cells of 2 patients with myeloproliferative disorders (MPDs) who acquired the JAK2-V617F somatic mutation in their blood cells. | 0.351660654 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18294066 | 3717 | JAK2 | umls:C0027022 | BeFree | Because of the clinical importance of this mutation in diagnosing myeloproliferative disorders and its relevance for disease progression, we have developed a tetra-primer polymerase chain reaction (PCR) assay to detect JAK2 p.V617F. | 0.351660654 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16675710 | 3717 | JAK2 | umls:C0027022 | BeFree | Acquisition of the V617F mutation of JAK2 is a late genetic event in a subset of patients with myeloproliferative disorders. | 0.351660654 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16670266 | 25 | ABL1 | umls:C0027022 | BeFree | A JAK2(V617F) mutation is frequently found in several BCR/ABL-negative myeloproliferative disorders. | 0.01737228 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23420150 | 3717 | JAK2 | umls:C0027022 | BeFree | The JAK2 46/1 haplotype has recently been described as a major contributing factor to the development of myeloproliferative neoplasm, whether positive or negative forthe JAK2 V617F mutation. | 0.351660654 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 441 |
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| Disease | chronic myeloproliferative disease |
| Case | (Waiting for update.) |