PedAM
Pediatric Disease Annotations & Medicines
| polycythemia vera | ||||
| Disease ID | 1 |
|---|---|
| Disease | polycythemia vera |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:96) C2700526 | erythrocytosis C2697424 | gastric cancer C2697380 | parathyroid carcinoma C2613439 | extramedullary hematopoiesis C2613439 | extramedullary haematopoiesis C2096315 | headache C2062979 | spontaneous bacterial peritonitis C2029884 | hearing loss C1963746 | abdominal wall hematoma C1963220 | pulmonary hypertension C1963138 | hypertension C1963099 | myelodysplasia C1868853 | pulmonary arteriopathy C1861171 | activated protein c resistance C1735914 | recurrent pulmonary embolism C1550639 | fistula C1540912 | hypereosinophilic syndrome C1521999 | acute myocardial infarction C1393529 | vascular complications C1334715 | metastatic carcinoid tumor C1313980 | ischemic heart disease C1142272 | neutrophilic dermatosis C0878544 | cardiomyopathy C0876993 | ventricular thrombus C0876993 | ventricular thrombosis C0856816 | primary erythrocytosis C0856761 | budd-chiari syndrome C0854467 | myelosuppression C0836924 | thrombocytosis C0836924 | thrombocythemias C0796095 | c syndrome C0795800 | trisomy 1q C0744424 | glomerulonephropathy C0740577 | acute abdominal pain C0587044 | left ventricular thrombosis C0546817 | hypervolemia C0473120 | peritoneal hematoma C0432411 | trisomy 9 C0398623 | hypercoagulable state C0398623 | hypercoagulability C0376293 | stigmata C0272285 | heparin-induced thrombocytopenia C0267406 | mesenteric infarction C0242875 | ventricular septal rupture C0236073 | cerebellar infarction C0221030 | hyperviscosity syndrome C0221013 | systemic mastocytosis C0155773 | portal thrombosis C0151693 | adrenal hemorrhage C0151482 | megaloblastic anemia due to folic acid deficiency C0151436 | leukocytoclastic vasculitis C0085669 | acute leukemia C0085404 | poems syndrome C0085273 | parvovirus b19 infection C0079731 | b-cell non-hodgkin's lymphoma C0040053 | thrombosis C0040038 | thromboembolism C0040034 | thrombocytopenia C0038454 | cerebral infarction C0033975 | psychosis C0033774 | pruritus C0032249 | sideropenic dysphagia C0031117 | peripheral neuropathy C0030920 | peptic ulcer C0027813 | peripheral neuritis C0027765 | neurologic disorders C0027697 | nephritis C0027051 | myocardial infarction C0027013 | myeloid metaplasia C0026987 | myelofibrosis C0024314 | lymphoproliferative disorders C0023524 | progressive multifocal leukoencephalopathy C0023481 | chronic neutrophilic leukemia C0023481 | chronic neutrophilic leukaemia C0023467 | acute myeloblastic leukemia C0023443 | hairy cell leukemia C0023434 | chronic lymphocytic leukemia C0023434 | chronic lymphocytic leukaemia C0023434 | chronic lymphatic leukemia C0023418 | leukemia C0020615 | hypoglycemia C0020541 | portal hypertension C0020437 | hypercalcemia C0019209 | hepatomegaly C0019087 | hemorrhagic diathesis C0019080 | hemorrhage C0017668 | focal segmental glomerulosclerosis C0017661 | iga nephropathy C0015503 | stable factor deficiency C0010072 | coronary thrombosis C0008626 | abnormal chromosomes C0008489 | chorea C0005779 | blood coagulation disorders C0004153 | atherosclerosis C0002880 | autoimmune hemolytic anemia C0001824 | granulocytopenia |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:14) C0040053 | thrombosis | 10 C0001815 | myelofibrosis | 6 C0018952 | extramedullary hematopoiesis | 2 C0033774 | pruritus | 2 C0398623 | hypercoagulable state | 1 C1393529 | vascular complications | 1 C0020538 | hypertension | 1 C0027051 | myocardial infarction | 1 C1527405 | erythrocytosis | 1 C0001815 | myeloid metaplasia | 1 C0744424 | glomerulonephropathy | 1 C0020437 | hypercalcemia | 1 C0024623 | gastric cancer | 1 C0008489 | chorea | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:520) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs10758669 | 18006699 | 2057 | EPOR | umls:C0032463 | BeFree | Three additional JAK2 SNPs (rs10758669, rs3808850, and rs10974947) and a single EPOR SNP (rs318699) were also significantly associated with PV but not with ET or PMF. | 0.004810009 | 2008 | NA | 9 | 4981602 | C | A |
| rs10974944 | 23430670 | 83886 | PRSS27 | umls:C0032463 | BeFree | Therefore, we examined 108 Japanese patients with MPN, including 19 with PV, 61 with ET, 10 with PMF, and 17 with unclassifiable MPN, as well as 104 control individuals for the JAK2 rs10974944(C/G) single nucleotide polymorphism, in which the G allele indicates the 46/1 haplotype. | 0.003800186 | 2013 | JAK2;INSL6 | 9 | 5070831 | C | G |
| rs10974947 | 18006699 | 2057 | EPOR | umls:C0032463 | BeFree | Three additional JAK2 SNPs (rs10758669, rs3808850, and rs10974947) and a single EPOR SNP (rs318699) were also significantly associated with PV but not with ET or PMF. | 0.004810009 | 2008 | JAK2;INSL6 | 9 | 5072846 | G | A |
| rs121913499 | 20410924 | 3417 | IDH1 | umls:C0032463 | BeFree | IDH1 mutations included R132C (n=4; two post-PMF AML, one post-PV AML and one PMF) and R132S (n=1; post-PMF AML). | 0.003452799 | 2010 | IDH1 | 2 | 208248389 | G | T,A |
| rs121913615 | 19843380 | 25 | ABL1 | umls:C0032463 | BeFree | In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation and the MPL W515K mutation; 17 patients with essential thrombocythemia (ET), eight with polycythemia vera (PV), four with primary mielofibrosis (MF), five with undifferentiated MPN, one with primary erythrocytosis and one with familial thrombocytosis. | 0.008696071 | 2009 | MPL | 1 | 43349338 | G | T |
| rs121913615 | 19843380 | 613 | BCR | umls:C0032463 | BeFree | In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation and the MPL W515K mutation; 17 patients with essential thrombocythemia (ET), eight with polycythemia vera (PV), four with primary mielofibrosis (MF), five with undifferentiated MPN, one with primary erythrocytosis and one with familial thrombocytosis. | 0.003810118 | 2009 | MPL | 1 | 43349338 | G | T |
| rs121913615 | 19843380 | 4352 | MPL | umls:C0032463 | BeFree | In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation and the MPL W515K mutation; 17 patients with essential thrombocythemia (ET), eight with polycythemia vera (PV), four with primary mielofibrosis (MF), five with undifferentiated MPN, one with primary erythrocytosis and one with familial thrombocytosis. | 0.146175429 | 2009 | MPL | 1 | 43349338 | G | T |
| rs121913615 | 18464114 | 4352 | MPL | umls:C0032463 | BeFree | MPL W515L mutation was found to be harbored in only one of 102 patients, who had essential thrombocythemia (ET, 1.0%) and was not detected in patients with polycythemia vera (PV), idiopathic myelofibrosis (IMF), and chronic myelogenous leukemia (CML). | 0.146175429 | 2008 | MPL | 1 | 43349338 | G | T |
| rs121913616 | 19843380 | 25 | ABL1 | umls:C0032463 | BeFree | In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation and the MPL W515K mutation; 17 patients with essential thrombocythemia (ET), eight with polycythemia vera (PV), four with primary mielofibrosis (MF), five with undifferentiated MPN, one with primary erythrocytosis and one with familial thrombocytosis. | 0.008696071 | 2009 | NA | NA | NA | NA | NA |
| rs121913616 | 19843380 | 613 | BCR | umls:C0032463 | BeFree | In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation and the MPL W515K mutation; 17 patients with essential thrombocythemia (ET), eight with polycythemia vera (PV), four with primary mielofibrosis (MF), five with undifferentiated MPN, one with primary erythrocytosis and one with familial thrombocytosis. | 0.003810118 | 2009 | NA | NA | NA | NA | NA |
| rs121913616 | 19843380 | 4352 | MPL | umls:C0032463 | BeFree | In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation and the MPL W515K mutation; 17 patients with essential thrombocythemia (ET), eight with polycythemia vera (PV), four with primary mielofibrosis (MF), five with undifferentiated MPN, one with primary erythrocytosis and one with familial thrombocytosis. | 0.146175429 | 2009 | NA | NA | NA | NA | NA |
| rs17849241 | 19735488 | 3717 | JAK2 | umls:C0032463 | BeFree | Here we report a PV patient heterozygous for the somatic JAK2(N542-E543del) mutation and a previously unreported germline mutation within the SH2 domain of SOCS3 (F136L). | 0.666276895 | 2009 | SOCS3;LOC101928674 | 17 | 78358688 | G | T |
| rs318699 | 18006699 | 2057 | EPOR | umls:C0032463 | BeFree | Three additional JAK2 SNPs (rs10758669, rs3808850, and rs10974947) and a single EPOR SNP (rs318699) were also significantly associated with PV but not with ET or PMF. | 0.004810009 | 2008 | NA | 19 | 11390564 | A | G |
| rs3808850 | 18006699 | 2057 | EPOR | umls:C0032463 | BeFree | Three additional JAK2 SNPs (rs10758669, rs3808850, and rs10974947) and a single EPOR SNP (rs318699) were also significantly associated with PV but not with ET or PMF. | 0.004810009 | 2008 | JAK2 | 9 | 4983311 | T | A |
| rs386626619 | 25116092 | 3717 | JAK2 | umls:C0032463 | BeFree | JAK2/MPL wild-type, CALR mutated hypercellular ET associated with PMGM is featured by dense clustered large immature dysmorphic megakaryocytes and bulky (cloud-like) hyperchromatic nuclei, which are never seen in WHO-ECMP-defined JAK2(V617F) mutated ET, EMGM and PV, and neither in JAK2 wild-type ET carrying the MPL(515) mutation. | 0.666276895 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 23588264 | 3717 | JAK2 | umls:C0032463 | BeFree | Polycythemia vera and the Jak2(V617F) mutation in a case of hereditary spherocytosis. | 0.666276895 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 17587878 | 3717 | JAK2 | umls:C0032463 | BeFree | Indeed the mutation mediates a PV-like phenotype but with regard to myelofibrosis JAK2(V617F) does not appear to be a causative factor. | 0.666276895 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 22796437 | 3717 | JAK2 | umls:C0032463 | BeFree | We recently developed a Janus kinase 2 (Jak2) small molecule inhibitor called G6 and found that it exhibits marked efficacy in a xenograft model of Jak2-V617F-mediated hyperplasia and a transgenic mouse model of Jak2-V617F-mediated polycythemia vera/essential thrombocytosis. | 0.666276895 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 16210033 | 3717 | JAK2 | umls:C0032463 | BeFree | A point mutation in the Janus kinase 2 exchanging a valine for a phenylalanine at position 617 (JAK2 V617F) was found in 65% to 97% of polycythemia vera (PV) patients, as well as in approximately 50% of essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF) patients. | 0.666276895 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 21082983 | 3717 | JAK2 | umls:C0032463 | BeFree | Dysregulated signaling is a hallmark of chronic myeloproliferative neoplasms (MPNs), as evidenced by the identification of the activating JAK2 V617F somatic mutation in almost all patients with polycythemia vera (PV) and 50-60% of essential thrombocythemia and primary myelofibrosis patients. | 0.666276895 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 25189723 | 811 | CALR | umls:C0032463 | BeFree | Molecular profiling must include the analysis of JAK2 (looking for the V617F point-mutation in PV and ET, screening exon 12 for mutations only in V617F-negative PV), CALR and MPL mutations (both in V617F-negative ET). | 0.001628651 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 21950422 | 3717 | JAK2 | umls:C0032463 | BeFree | LCN-2 mRNA showed a near 50-fold increase in expression, accompanied by down-regulation of SLC22A17, coinciding with increase in BCR-ABL transcripts, loss of JAK2-V617F and change of clinical phenotype from polycythaemia vera to chronic myeloid leukaemia. | 0.666276895 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 22555824 | 3717 | JAK2 | umls:C0032463 | BeFree | The frequency of the JAK2 (V617F) mutation varied between the MPD subtypes, with the mutation being most frequent in PV (95.8%) and 39% showed homozygous mutant allele. | 0.666276895 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 22611155 | 3717 | JAK2 | umls:C0032463 | BeFree | Correlations are emerging between leukocytosis, JAK2(V617F) mutation, BM fibrosis, and different outcomes of PV, which need to be confirmed in prospective studies. | 0.666276895 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 18616871 | 2056 | EPO | umls:C0032463 | BeFree | As compared to their JAK2 V617F negative counterparts, the JAK2 V617F positive patients had PV-like biochemical characteristics such as higher haemoglobin levels (p=0.02), lower platelet counts (p=0.002) and lower plasma EPO levels (p=0.04). | 0.012486326 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 22722988 | 3717 | JAK2 | umls:C0032463 | BeFree | Evaluation of the JAK2-V617F gene mutation in Turkish patients with essential thrombocythemia and polycythemia vera. | 0.666276895 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 21821860 | 84765 | ZNF577 | umls:C0032463 | BeFree | Only the ZNF577 gene showed a differential methylation profile between PV JAK2 V617F positive and controls. | 0.000271442 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 21904853 | 3717 | JAK2 | umls:C0032463 | BeFree | We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132), IDH2 (R140 and R172), and c-CBL (exons 8 and 9) in 62 MPN patients (52 essential thrombocythemia (ET), five polycythemia vera (PV), and five primary myelofibrosis (PMF)) negative for both JAK2 (V617F and exon 12) and MPL (exon 10) mutations. | 0.666276895 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 23807288 | 3717 | JAK2 | umls:C0032463 | BeFree | However it is not so easy, because iPSCs from hematological malignancies have been established only from myeloproliferative neoplasms including chronic myelogenous leukemia (CML) and JAK2-V617F mutation-positive polycythemia vera (PV). | 0.666276895 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 16081684 | 3717 | JAK2 | umls:C0032463 | BeFree | Patients with PV who were homozygous or heterozygous for JAK2-V617F exhibited higher levels of expression of the 13 new markers, PRV1, and NF-E2 than patients without JAK2-V617F, whereas ANKRD15 was down-regulated in these patients. | 0.666276895 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 26071474 | 5542 | PRB1 | umls:C0032463 | 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). | 0.000814326 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 24951423 | 3717 | JAK2 | umls:C0032463 | BeFree | Thus, mice developing PV secondary to constitutive JAK2(V617F) expression exhibit a bleeding tendency combined with the accelerated formation of unstable clots, reminiscent of observations made in patients. | 0.666276895 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 23926298 | 947 | CD34 | umls:C0032463 | BeFree | Genetic or PAD-mediated PP2A reactivation induces Jak2(V617F) inactivation/downregulation and impairs clonogenic potential of Jak2(V617F) cell lines and PV but not normal CD34(+) progenitors. | 0.005700279 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 22234689 | 3717 | JAK2 | umls:C0032463 | BeFree | In the present study, we used mice with a conditional null mutation in the Stat5a/b gene locus to determine the requirement for STAT5 in MPNs induced by BCR-ABL1 and JAK2(V617F) in retroviral transplantation models of CML and PV. | 0.666276895 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 16537803 | 3717 | JAK2 | umls:C0032463 | BeFree | To study the prevalence of the Val617Phe JAK2 mutation in familial cases of myeloproliferative disorder (MPD) and its possible implication as a predisposing genetic factor, we analyzed 72 families including 174 patients (81 polycythemia vera [PV], 68 essential thrombocythemia [ET], 11 myelofibrosis with myeloid metaplasia [MMM], 12 chronic myeloid leukemia), 1 systemic mastocytosis, and 1 chronic myelomonocytic leukemia (CMML). | 0.666276895 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 20473593 | 3717 | JAK2 | umls:C0032463 | BeFree | Circulating endothelial cells in essential thrombocythemia and polycythemia vera: correlation with JAK2-V617F mutational status, angiogenic factors and coagulation activation markers. | 0.666276895 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 22234689 | 6776 | STAT5A | umls:C0032463 | BeFree | In the present study, we used mice with a conditional null mutation in the Stat5a/b gene locus to determine the requirement for STAT5 in MPNs induced by BCR-ABL1 and JAK2(V617F) in retroviral transplantation models of CML and PV. | 0.002171535 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 16369984 | 3717 | JAK2 | umls:C0032463 | BeFree | The results of the current clinical study support previous laboratory observations that link JAK2(V617F) with the PV phenotype by demonstrating a mutant allele dose effect on erythrocytosis and clinical and laboratory features characteristic of PV. | 0.666276895 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 18336541 | 3717 | JAK2 | umls:C0032463 | BeFree | The frequency of JAK2-V617F mutation in patients with polycythaemia vera, essential thrombocythaemia and idiopathic myelofibrosis (IMF) was determined in the DNA from the peripheral blood leucocytes of 108 patients by genomic polymerase chain reaction and restriction enzyme-based assay. | 0.666276895 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 19843380 | 25 | ABL1 | umls:C0032463 | BeFree | In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation and the MPL W515K mutation; 17 patients with essential thrombocythemia (ET), eight with polycythemia vera (PV), four with primary mielofibrosis (MF), five with undifferentiated MPN, one with primary erythrocytosis and one with familial thrombocytosis. | 0.008696071 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 16197451 | 3717 | JAK2 | umls:C0032463 | BeFree | Therefore, although the presence of JAK2(V617F) in ET appears to promote a PV phenotype, it might not carry treatment-relevant information. | 0.666276895 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 20205617 | 3717 | JAK2 | umls:C0032463 | BeFree | A somatic mutation (V617F) resulting in enhanced JAK2 kinase activity can be frequently found in patients with serious myeloproliferative neoplasms such as polycythemia vera, essential thrombocythemia and primary myelofibrosis. | 0.666276895 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 18781401 | 3717 | JAK2 | umls:C0032463 | 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. | 0.666276895 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 20472827 | 3717 | JAK2 | umls:C0032463 | BeFree | In conclusion, constitutive heterozygous expression of JAK2(V617F) in mice is not embryo-lethal but results in severe PV-like disease with secondary myelofibrosis and not in ET-like disease as expected from patient study. | 0.666276895 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 18768782 | 3717 | JAK2 | umls:C0032463 | BeFree | We used the thrombin generation assay to evaluate the hypercoagulable state according to JAK2(V617F) mutational status in essential thrombocythemia (ET) and polycythemia vera (PV) patients. | 0.666276895 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 22234689 | 25 | ABL1 | umls:C0032463 | BeFree | In the present study, we used mice with a conditional null mutation in the Stat5a/b gene locus to determine the requirement for STAT5 in MPNs induced by BCR-ABL1 and JAK2(V617F) in retroviral transplantation models of CML and PV. | 0.008696071 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 16810609 | 4597 | MVD | umls:C0032463 | BeFree | This indicates that JAK2 V617-positive ET patients, diagnosed according to the PVSG criteria, represent a forme fruste of PV consistent with early PV mimicking ET (JAK2 V617F trilinear MPD). | 0.002171535 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 17961178 | 3717 | JAK2 | umls:C0032463 | BeFree | The JAK2 V617F tyrosine kinase mutation is present in the great majority of patients with polycythemia vera (PV), and approximately half of the patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF). | 0.666276895 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 23926298 | 5524 | PPP2R4 | umls:C0032463 | BeFree | Genetic or PAD-mediated PP2A reactivation induces Jak2(V617F) inactivation/downregulation and impairs clonogenic potential of Jak2(V617F) cell lines and PV but not normal CD34(+) progenitors. | 0.000271442 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 20472853 | 2056 | EPO | umls:C0032463 | BeFree | Clinically suspected PV with low serum erythropoietin and absent JAK2(V617F), together with the bone marrow findings of erythroid hyperplasia and subtle megakaryocytic atypia, should prompt an evaluation for an exon 12 mutation. | 0.012486326 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 19941738 | 3717 | JAK2 | umls:C0032463 | BeFree | We found an association between JAK2 V617F and thrombotic events in patients with PV and ET. | 0.666276895 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 21224469 | 3717 | JAK2 | umls:C0032463 | BeFree | These findings suggest that, despite the phenotypical difference, the outcome of JAK2 exon 12 mutations-positive PV is similar to that of JAK2 (V617F)-positive PV. | 0.666276895 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 16384930 | 8743 | TNFSF10 | umls:C0032463 | BeFree | With the use of an in vitro culture system to generate differentiating erythroid cells, we found that erythroblasts derived from patients with PV harboring the JAK2 V617F mutation were able to proliferate and generate higher numbers of mature erythroid cells in the presence of inhibitory signals delivered by CD95 (Fas/Apo-1) and TRAIL receptor stimulation. | 0.000271442 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 19167611 | 25 | ABL1 | umls:C0032463 | BeFree | The acquired Janus kinase 2 (JAK2) V617F mutation shows a high frequency in diverse BCR/ABL-negative chronic myeloproliferative disorders (CMPD), and it is typically associated with polycythemia vera (PV). | 0.008696071 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 23558526 | 3717 | JAK2 | umls:C0032463 | BeFree | Mice engrafted with 30% of Jak2(V617F) KI bone marrow (BM) cells developed a polycythemia vera-like disorder. | 0.666276895 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 23666689 | 3717 | JAK2 | umls:C0032463 | BeFree | Recently, a point mutation in the JAK2 gene, JAK2 (V617F) , was discovered in several myeloid proliferative neoplasms including polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). | 0.666276895 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 19167611 | 3717 | JAK2 | umls:C0032463 | BeFree | JAK2 V617F/C618R mutation in a patient with polycythemia vera: a case study and review of the literature. | 0.666276895 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 17976518 | 3717 | JAK2 | umls:C0032463 | BeFree | The JAK2 V617F somatic mutation is found in most PV patients; however, it is not the disease-initiating mutation. | 0.666276895 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 25040297 | 2056 | EPO | umls:C0032463 | BeFree | The role of serum erythropoietin level and JAK2 V617F allele burden in the diagnosis of polycythaemia vera. | 0.012486326 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 17454193 | 3717 | JAK2 | umls:C0032463 | BeFree | The Janus kinase 2 (JAK2) V617F mutation was present in 34 (85.3%) PV, 2 (50%) IE, 1 (50%) apparent and no secondary erythrocytosis cases. | 0.666276895 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 16239216 | 3716 | JAK1 | umls:C0032463 | BeFree | JAK1 and Tyk2 activation by the homologous polycythemia vera JAK2 V617F mutation: cross-talk with IGF1 receptor. | 0.005276948 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 16603627 | 3717 | JAK2 | umls:C0032463 | BeFree | The JAK2 V617F mutation occurs in hematopoietic stem cells in polycythemia vera and predisposes toward erythroid differentiation. | 0.666276895 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 18048969 | 3717 | JAK2 | umls:C0032463 | BeFree | The recently identified JAK2(V617F) mutation is frequently present in the classic CMPDs polycythemia vera, essential thrombocythemia, and chronic idiopathic myelofibrosis. | 0.666276895 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 26071474 | 83886 | PRSS27 | umls:C0032463 | 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). | 0.003800186 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 19093167 | 3717 | JAK2 | umls:C0032463 | BeFree | The JAK2 V617F mutation is present in most patients with polycythemia vera, but in fewer patients with essential thrombocythemia (ET). | 0.666276895 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 22041374 | 3717 | JAK2 | umls:C0032463 | BeFree | The activating mutation of JAK2, V617F, has been found as a frequent mutation in myeloproliferative neoplasms (MPNs), including polycythemia vera (PV), essential thrombocytosis (ET), and primary myelofibrosis (PMF). | 0.666276895 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 18464114 | 3717 | JAK2 | umls:C0032463 | BeFree | Sixty-eight BCR/ABL-negative MPD patients (46.3%) were found harboring JAK2 V617F mutation (PV, 62.5%; ET, 42.1%; IMF 38.1%). | 0.666276895 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 20560681 | 25 | ABL1 | umls:C0032463 | BeFree | Reliable detection of the JAK2 V617F mutation is a major criterion in the diagnosis of BCR/ABL-negative myeloproliferative neoplasms such as polycythemia vera, essential thrombocythemia, and primary myelofibrosis. | 0.008696071 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 17984312 | 3717 | JAK2 | umls:C0032463 | BeFree | Both patients with familial PV carrying an exon 12 mutation had an affected sibling with JAK2 (V617F)-positive PV. | 0.666276895 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 15781101 | 3717 | JAK2 | umls:C0032463 | BeFree | A single point mutation (Val617Phe) was identified in JAK2 in 71 (97%) of 73 patients with polycythaemia vera, 29 (57%) of 51 with essential thrombocythaemia, and eight (50%) of 16 with idiopathic myelofibrosis. | 0.666276895 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 25116092 | 4352 | MPL | umls:C0032463 | BeFree | JAK2/MPL wild-type, CALR mutated hypercellular ET associated with PMGM is featured by dense clustered large immature dysmorphic megakaryocytes and bulky (cloud-like) hyperchromatic nuclei, which are never seen in WHO-ECMP-defined JAK2(V617F) mutated ET, EMGM and PV, and neither in JAK2 wild-type ET carrying the MPL(515) mutation. | 0.146175429 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 21904853 | 171023 | ASXL1 | umls:C0032463 | BeFree | We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132), IDH2 (R140 and R172), and c-CBL (exons 8 and 9) in 62 MPN patients (52 essential thrombocythemia (ET), five polycythemia vera (PV), and five primary myelofibrosis (PMF)) negative for both JAK2 (V617F and exon 12) and MPL (exon 10) mutations. | 0.002171535 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 19497108 | 3717 | JAK2 | umls:C0032463 | BeFree | Since the V617F mutation in JAK2 may not be the initiating event in myeloprofilerative disorders (MPDs) we compared molecular changes in neutrophils from patients with polycythemia vera (PV) and essential thrombocythosis (ET), to neutrophils stimulated by G-CSF administration and to normal unstimulated neutrophils | 0.666276895 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 18059484 | 3717 | JAK2 | umls:C0032463 | BeFree | HLA-G turns off erythropoietin receptor signaling through JAK2 and JAK2 V617F dephosphorylation: clinical relevance in polycythemia vera. | 0.666276895 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 18481066 | 3717 | JAK2 | umls:C0032463 | BeFree | We report here the first profound and sustained molecular responses with a JAK2 V617F allele burden below 1.0% in two patients with polycythemia vera treated with interferon alpha-2b (IFN-2b). | 0.666276895 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 21042281 | 3717 | JAK2 | umls:C0032463 | BeFree | The V617F activating mutation of janus kinase 2 (JAK2), a kinase essential for cytokine signalling, characterizes Polycythemia vera (PV), one of the myeloproliferative neoplasms (MPN). | 0.666276895 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 19965650 | 3717 | JAK2 | umls:C0032463 | BeFree | The acquired somatic Janus kinase 2 (JAK2) V617F mutation is present in the majority of PV and ET patients. | 0.666276895 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 19287384 | 3717 | JAK2 | umls:C0032463 | BeFree | Given that the identical somatic activating mutation in the JAK2 tyrosine kinase gene (JAK2(V617F)) is observed in most individuals with polycythemia vera, essential thrombocythemia and primary myelofibrosis, there likely are additional genetic events that contribute to the pathogenesis of these phenotypically distinct disorders. | 0.666276895 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 24463275 | 3717 | JAK2 | umls:C0032463 | BeFree | Only tumor necrosis factor-α and platelet derived growth factor-BB were specifically impacted by the JAK2 V617F status of the PV and ET patients, respectively, suggesting that there are both JAK2 V617F-driven and JAK2 V617F-independent inflammatory responses in MPNs. | 0.666276895 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 18528646 | 3717 | JAK2 | umls:C0032463 | BeFree | JAK2 V617F mutation is rare in idiopathic erythrocytosis: a difference from polycythemia vera. | 0.666276895 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 17389152 | 3717 | JAK2 | umls:C0032463 | BeFree | Recently, 4 groups reported almost simultaneously Janus kinase 2 (JAK2) V617F mutation in more than 80% of PV patients, 30% of patients with ET and in about 50% of patients with idiopathic myelofibrosis. | 0.666276895 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 17145859 | 3717 | JAK2 | umls:C0032463 | 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. | 0.666276895 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 22890406 | 3717 | JAK2 | umls:C0032463 | BeFree | No evidence for JAK2(V617F) mutation in monoclonal B cells in 2 patients with polycythaemia vera and concurrent monoclonal B cell disorder. | 0.666276895 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 17178722 | 3717 | JAK2 | umls:C0032463 | BeFree | These data suggest that erlotinib may be used for treatment of JAK2(V617F)-positive PV and other myeloproliferative disorders. | 0.666276895 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 18723264 | 3717 | JAK2 | umls:C0032463 | 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. | 0.666276895 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 18972067 | 3717 | JAK2 | umls:C0032463 | BeFree | The aim of this study was to clarify whether JAK2(V617F) PV with thromboembolism is characterised by CD239 overexpression. | 0.666276895 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 17285276 | 3717 | JAK2 | umls:C0032463 | BeFree | the BCR-ABL fusion characteristic of chronic myeloid leukemia and the JAK2 V617F mutation that characterises polycythaemia vera and a proportion of cases of essential thrombocythemia and idiopathic myelofibrosis. | 0.666276895 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 20013324 | 6776 | STAT5A | umls:C0032463 | BeFree | Activated STAT1 and STAT5 transcription factors in extramedullary hematopoietic tissue in a polycythemia vera patient carrying the JAK2 V617F mutation. | 0.002171535 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 21790864 | 3717 | JAK2 | umls:C0032463 | BeFree | We present here a 56-year-old woman with PV harboring a JAK2(V617F) mutation that had a diffuse reticulonodular pattern on chest radiography and was initially suspected of having military tuberculosis. | 0.666276895 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 20631743 | 3717 | JAK2 | umls:C0032463 | BeFree | A prospective study of 338 patients with polycythemia vera: the impact of JAK2 (V617F) allele burden and leukocytosis on fibrotic or leukemic disease transformation and vascular complications. | 0.666276895 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 16709929 | 3717 | JAK2 | umls:C0032463 | BeFree | V617F JAK2 mutation is a reliable molecular marker of polycythemia vera (PV), potentially useful to monitor the effect of treatments in this disease. | 0.666276895 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 22234689 | 613 | BCR | umls:C0032463 | BeFree | In the present study, we used mice with a conditional null mutation in the Stat5a/b gene locus to determine the requirement for STAT5 in MPNs induced by BCR-ABL1 and JAK2(V617F) in retroviral transplantation models of CML and PV. | 0.003810118 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 18616871 | 3717 | JAK2 | umls:C0032463 | BeFree | The JAK2 V617F mutation per se but not the mutational load in patients with ET is associated with a PV-like phenotype and a higher prevalence of previous arterial thrombosis. | 0.666276895 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 20966521 | 102606463 | LINC01152 | umls:C0032463 | BeFree | JAK2 V617F mutation was found in 51 of 75 cases (68%) of CMPD, 82 per cent in PV, 70 per cent in ET and 52 per cent of IMF. | 0.001085767 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 20663870 | 3717 | JAK2 | umls:C0032463 | BeFree | This phenotype is quite different from that observed in polycythemia vera (PV) caused by JAK2 V617F, whereas both oncogenic TKs activate common downstream molecules at the level of hematopoietic stem cells (HSCs). | 0.666276895 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 16924638 | 3717 | JAK2 | umls:C0032463 | BeFree | Early screening of suspected PV patients for JAK2(V617F) rapidly identifies nearly all those with PV without invasive or less specific conventional investigations. | 0.666276895 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 19772888 | 3717 | JAK2 | umls:C0032463 | BeFree | A novel zebrafish jak2a(V581F) model shared features of human JAK2(V617F) polycythemia vera. | 0.666276895 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 19815050 | 3717 | JAK2 | umls:C0032463 | BeFree | JAK2(V617F) is detected in other myeloproliferative neoplasms, does not appear to be the PV-initiating event, and its specific role in deregulated erythropoiesis in PV is incompletely understood. | 0.666276895 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 20013324 | 6777 | STAT5B | umls:C0032463 | BeFree | Activated STAT1 and STAT5 transcription factors in extramedullary hematopoietic tissue in a polycythemia vera patient carrying the JAK2 V617F mutation. | 0.001900093 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 25116092 | 2056 | EPO | umls:C0032463 | BeFree | Half of PVSG/WHO-defined ET patients show low serum erythropoietin levels and carry the JAK2(V617F) mutation, indicating prodromal PV. | 0.012486326 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 22642932 | 3717 | JAK2 | umls:C0032463 | BeFree | Detection of JAK2 mutations in paraffin marrow biopsies by high resolution melting analysis: identification of L611S alone and in cis with V617F in polycythemia vera. | 0.666276895 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 17213018 | 3717 | JAK2 | umls:C0032463 | BeFree | The V617F mutation in the JAK2 gene on chromosome 9p24.1 was identified recently in peripheral blood leukocytes in the majority of patients with PV and in approximately half of patients with essential thrombocythemia and idiopathic myelofibrosis. | 0.666276895 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 18632151 | 3717 | JAK2 | umls:C0032463 | BeFree | JAK2 V617F positivity in patients with ET was associated with a clear increase in the odds of thrombosis [OR=1.83 (95% CI, 1.32-2.53), p<0.0001], and much higher odds of transformation to polycythemia vera [OR=7.67 (95% CI, 2.04-28.87), p=0.0009]. | 0.666276895 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 16728702 | 3717 | JAK2 | umls:C0032463 | BeFree | The JAK2-V617F mutation is frequently present at diagnosis in patients with essential thrombocythemia and polycythemia vera. | 0.666276895 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 22028900 | 3717 | JAK2 | umls:C0032463 | BeFree | Development and inter-laboratory validation of unlabeled probe melting curve analysis for detection of JAK2 V617F mutation in polycythemia vera. | 0.666276895 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 24903629 | 3717 | JAK2 | umls:C0032463 | BeFree | Open-label study of oral CEP-701 (lestaurtinib) in patients with polycythaemia vera or essential thrombocythaemia with JAK2-V617F mutation. | 0.666276895 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 17379069 | 3717 | JAK2 | umls:C0032463 | BeFree | These data suggest that the JAK2(V617F) mutation plays an important role in the biology of PV, yet it may not be the PV-initiating event. | 0.666276895 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 18717827 | 3717 | JAK2 | umls:C0032463 | BeFree | Although JAK2(V617F) transcript levels did not decrease upon exposure to dasatinib, the drug might suppress PV progenitors through inhibition of a yet undefined molecular target. | 0.666276895 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 16946305 | 3717 | JAK2 | umls:C0032463 | BeFree | Recently, the JAK2(V617F) mutation was found in patients with myeloproliferative disorders (MPDs), including most with polycythemia vera (PV). | 0.666276895 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 16225651 | 3717 | JAK2 | umls:C0032463 | BeFree | In conclusion, JAK2(V617F) is a myeloid lineage-specific event, its incidence in MMM is significantly higher with an antecedent history of polycythaemia vera (PV), and its presence in AMM does not affect prognosis but is associated with PV-characteristic clinical features. | 0.666276895 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 20560681 | 3717 | JAK2 | umls:C0032463 | BeFree | Reliable detection of the JAK2 V617F mutation is a major criterion in the diagnosis of BCR/ABL-negative myeloproliferative neoplasms such as polycythemia vera, essential thrombocythemia, and primary myelofibrosis. | 0.666276895 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 25968903 | 3717 | JAK2 | umls:C0032463 | BeFree | The 2005 JAK2 V617F discovery and the 2008 WHO diagnostic guideline for the JAK2 V617F mutation coincide with a 31 % increase in ET and a 21 % decrease in PV incidence rates. | 0.666276895 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 18059484 | 2057 | EPOR | umls:C0032463 | BeFree | HLA-G turns off erythropoietin receptor signaling through JAK2 and JAK2 V617F dephosphorylation: clinical relevance in polycythemia vera. | 0.004810009 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 22333011 | 3717 | JAK2 | umls:C0032463 | BeFree | The detection rate of JAK2(V617F) was 76.2% for PV (homozygous in 14.3%), 46.9% for ET, 80% for myelofibrosis (homozygous in 20%), and 0% for the other conditions. | 0.666276895 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 21512135 | 3717 | JAK2 | umls:C0032463 | BeFree | Treatment with atiprimod, a potent JAK2 inhibitor, caused marked growth inhibition and apoptosis of human (SET-2) and mouse (FDCP-EpoR) JAK2(V617F)-positive cells as well as primary blood or bone marrow mononuclear cells from patients with polycythemia vera; however, these effects were attenuated when any of these cell types were cocultured (cell-on-cell) with human marrow stromal cell lines (e.g., HS5, NK.tert, TM-R1). | 0.666276895 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 18482053 | 3717 | JAK2 | umls:C0032463 | BeFree | The somatic activating janus kinase 2 mutation (JAK2)(V617F) is detectable in most patients with polycythemia vera (PV). | 0.666276895 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 20888389 | 3717 | JAK2 | umls:C0032463 | BeFree | These data indicate that loss of wild-type clones at the progenitor level is a feature of MF (primary MF, post-ET MF, and post-PV MF), presumably due to expansion of the JAK2 V617F clone and that this characteristic is surprisingly independent of JAK2 V617F homozygosity, suggesting that additional genomic lesions may contribute to this unique molecular process that distinguishes MF from ET and PV. | 0.666276895 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 23391844 | 3717 | JAK2 | umls:C0032463 | BeFree | The JAK2 V617F mutation has been detected in patients with classical myeloproliferative disorders (MPD) including polycythemia vera and essential thrombocythemia and idiopathic myelofibrosis. | 0.666276895 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 19843380 | 613 | BCR | umls:C0032463 | BeFree | In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation and the MPL W515K mutation; 17 patients with essential thrombocythemia (ET), eight with polycythemia vera (PV), four with primary mielofibrosis (MF), five with undifferentiated MPN, one with primary erythrocytosis and one with familial thrombocytosis. | 0.003810118 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 22411871 | 2322 | FLT3 | umls:C0032463 | BeFree | JAK2(V617F) and FLT3(ITD)-positive polycythemia vera cells and acute myeloid leukemia cells also produce ROS via MRC-cIII. | 0.000271442 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 17262192 | 3717 | JAK2 | umls:C0032463 | BeFree | Different involvement of the megakaryocytic lineage by the JAK2 V617F mutation in Polycythemia vera, essential thrombocythemia and chronic idiopathic myelofibrosis. | 0.666276895 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 21950422 | 3934 | LCN2 | umls:C0032463 | BeFree | LCN-2 mRNA showed a near 50-fold increase in expression, accompanied by down-regulation of SLC22A17, coinciding with increase in BCR-ABL transcripts, loss of JAK2-V617F and change of clinical phenotype from polycythaemia vera to chronic myeloid leukaemia. | 0.000542884 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 17369568 | 3717 | JAK2 | umls:C0032463 | BeFree | The JAK2 V617F mutation in children with PV was significantly less frequent than in adult PV. | 0.666276895 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 19175693 | 3717 | JAK2 | umls:C0032463 | BeFree | It is hoped that the same will happen in other MPN with specific genetic alterations: polycythemia vera (JAK2 V617F and other JAK2 mutations), essential thrombocythemia (JAK2V617F and MPL515 mutations), primary myelofibrosis (JAK2 V617F and MPL515 mutations), systemic mastocytosis (KITD816V and other KIT mutations) and stem cell leukaemia/lymphoma (ZNF198-FGFR1 and other FGFR1 fusion genes). | 0.666276895 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 19826111 | 3717 | JAK2 | umls:C0032463 | BeFree | The molecular response rate was 38% in ET and 54% in PV, being complete (undetectable JAK2(V617F)) in 6% and 14%, respectively. | 0.666276895 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 21273266 | 3717 | JAK2 | umls:C0032463 | BeFree | We showed that in vitro the concomitant presence of JAK2(V617F) and TET2 mutations favors clonal polycythemia vera erythroid progenitors in contrast with non-TET2 mutated progenitors. | 0.666276895 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 23430670 | 3717 | JAK2 | umls:C0032463 | BeFree | The MPNs include polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF), most of which are characterized by a somatic point mutation, V617F, in the janus kinase 2 (JAK2) gene. | 0.666276895 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 16757685 | 3717 | JAK2 | umls:C0032463 | BeFree | Although the JAK2(V617F) mutation plays an important role in the biologic origins of PV, it is likely not the sole event leading to PV. | 0.666276895 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 24475114 | 3717 | JAK2 | umls:C0032463 | BeFree | Most cases of BCR-ABL1-negative myeloproliferative neoplasms (MPNs), essential thrombocythemia, polycythemia vera and primary myelofibrosis are associated with JAK2 (V617F) mutations. | 0.666276895 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 22847163 | 3717 | JAK2 | umls:C0032463 | BeFree | Chronic myeloproliferative neoplasms (MPN) are clonal disorders of hematopoietic stem cells, which fall into distinct categories based on a number of characteristics including the presence of the BCR-ABL1 gene fusion (chronic myelogenous leukemia) or the JAK2(V617F) mutation (polycythemia vera, primary myelofibrosis, and essential thrombocythemia). | 0.666276895 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 19843380 | 3717 | JAK2 | umls:C0032463 | BeFree | The most consistent relationship was that between PV and the JAK2 V617F mutation (p=0.08). | 0.666276895 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 20587663 | 3717 | JAK2 | umls:C0032463 | BeFree | Strikingly, the JAK2(V617F) mutation is found in nearly all patients suffering from polycythemia vera and in roughly every second patient suffering from essential thrombocythemia and primary myelofibrosis. | 0.666276895 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 23111067 | 3717 | JAK2 | umls:C0032463 | BeFree | We also verified the effect of the same drugs in colony assays of freshly isolated Jak2(V617F) polycythemia vera cells. | 0.666276895 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 17875526 | 3717 | JAK2 | umls:C0032463 | BeFree | JAK2 V617F was found in 38 (64%) of ET cases, 7 (39%) of CIMF cases, and 9 (100%) of PV cases. | 0.666276895 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 22304488 | 3717 | JAK2 | umls:C0032463 | BeFree | 88% (46/52) of the patients with PV, 47% (39/81) with ET, and 77% (8/11) with PMF were positive for JAK2 V617F, while more than 35% of the individuals were JAK2 V617F-negative, confirming a high prevalence of this abnormality in MPNs, more frequently with a low mutated allele burden, similar to what has been reported in other Western countries, despite differences among methods used to detect this mutation. | 0.666276895 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 18245540 | 3717 | JAK2 | umls:C0032463 | BeFree | As expected, WP1066 inhibited the proliferation of peripheral blood hematopoietic progenitors of patients with polycythemia vera carrying the JAK2 V617F mutation in a dose-dependent manner. | 0.666276895 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 16239216 | 3717 | JAK2 | umls:C0032463 | BeFree | JAK1 and Tyk2 activation by the homologous polycythemia vera JAK2 V617F mutation: cross-talk with IGF1 receptor. | 0.666276895 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 20013324 | 3717 | JAK2 | umls:C0032463 | BeFree | Activated STAT1 and STAT5 transcription factors in extramedullary hematopoietic tissue in a polycythemia vera patient carrying the JAK2 V617F mutation. | 0.666276895 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 19468275 | 3717 | JAK2 | umls:C0032463 | BeFree | Treating low-risk essential thrombocythemia and polycythemia vera patients presenting with leukocytosis or JAK2 V617F mutation in order to prevent thrombosis deserves a prospective validation. | 0.666276895 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 19941739 | 3717 | JAK2 | umls:C0032463 | BeFree | Long term treatment with IFN2b is able to induce 'minimal residual disease' with very low JAK2 V617F allele burden and may induce profound, and in some patients total, regression of histomorphological bone marrow features of PV. | 0.666276895 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 16998940 | 3717 | JAK2 | umls:C0032463 | BeFree | Discordant distribution of the JAK2 (V617F) mutation was observed in siblings with polycythemia vera. | 0.666276895 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 18084761 | 3717 | JAK2 | umls:C0032463 | BeFree | Interestingly, a significant correlation between MYC and hTERT expression could only be established in homozygous JAK2(V617F) PV and control cases. | 0.666276895 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 18815196 | 3717 | JAK2 | umls:C0032463 | BeFree | The JAK2 V617F mutation can be found in patients with polycythemia vera, essential thrombocythemia and idiopathic myelofibrosis. | 0.666276895 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 16325696 | 3717 | JAK2 | umls:C0032463 | BeFree | Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study. | 0.666276895 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 18616871 | 8288 | EPX | umls:C0032463 | BeFree | As compared to their JAK2 V617F negative counterparts, the JAK2 V617F positive patients had PV-like biochemical characteristics such as higher haemoglobin levels (p=0.02), lower platelet counts (p=0.002) and lower plasma EPO levels (p=0.04). | 0.000814326 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 16949922 | 3717 | JAK2 | umls:C0032463 | BeFree | Overall, the incidence of the JAK2 V617F mutation was 87% in PV, 67% in ET, and 66% in CIM. | 0.666276895 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 20197548 | 3717 | JAK2 | umls:C0032463 | BeFree | A somatic point mutation (V617F) in the JAK2 tyrosine kinase was found in a majority of patients with polycythemia vera (PV), essential thrombocythemia, and primary myelofibrosis. | 0.666276895 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 19497108 | 1440 | CSF3 | umls:C0032463 | BeFree | Since the V617F mutation in JAK2 may not be the initiating event in myeloprofilerative disorders (MPDs) we compared molecular changes in neutrophils from patients with polycythemia vera (PV) and essential thrombocythosis (ET), to neutrophils stimulated by G-CSF administration and to normal unstimulated neutrophils | 0.000542884 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 18508790 | 3717 | JAK2 | umls:C0032463 | BeFree | Polycythemia vera is a clonal hematopoietic stem cell disorder in which the JAK2 V617F mutation is observed in >95% of patients, but an as yet unidentified process appears to initiate the clonal expansion of hematopoiesis. | 0.666276895 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 18033315 | 3717 | JAK2 | umls:C0032463 | BeFree | We conclude that in vivo expression of JAK2 V617F results in ET-, PMF- and PV-like disease. | 0.666276895 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 22262773 | 3717 | JAK2 | umls:C0032463 | BeFree | The JAK2(V617F) mutation occurred in 27% of SP patients diagnosed according to the Polycythemia Vera Study Group or World Health Organization 2001 criteria. | 0.666276895 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 16810609 | 3717 | JAK2 | umls:C0032463 | BeFree | This indicates that JAK2 V617-positive ET patients, diagnosed according to the PVSG criteria, represent a forme fruste of PV consistent with early PV mimicking ET (JAK2 V617F trilinear MPD). | 0.666276895 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 20425336 | 3717 | JAK2 | umls:C0032463 | BeFree | A refined diagnostic algorithm for polycythemia vera that incorporates mutation screening for JAK2(V617F). | 0.666276895 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 21539404 | 3717 | JAK2 | umls:C0032463 | BeFree | Relationship between clotting activity and phosphatidylserine expression on erythrocyte membranes in polycythemia vera patients with the JAK2 V617F mutation. | 0.666276895 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 17059429 | 4597 | MVD | umls:C0032463 | BeFree | After a median follow-up of 41 months (range 3-114 months), three out of the 10 patients carrying the JAK2 V617F mutation were then diagnosed as having idiopathic myelofibrosis (n = 2) or polycythemia vera (n = 1), whereas in seven patients a MPD was not detected. | 0.002171535 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 21219298 | 3717 | JAK2 | umls:C0032463 | BeFree | Modulation of JAK2 V617F allele burden dynamics by hydroxycarbamide in polycythaemia vera and essential thrombocythaemia patients. | 0.666276895 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 16373657 | 947 | CD34 | umls:C0032463 | BeFree | A JAK2 (V617F) gene dosage effect on both CD34(+) cell counts and granulocyte activation was clearly demonstrated in polycythemia vera, where abnormal patterns were mainly found in patients carrying more than 50% mutant alleles. | 0.005700279 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 21953826 | 3717 | JAK2 | umls:C0032463 | BeFree | The JAK2 V617F mutation is responsible for the constitutive activation of the erythropoietin receptor signaling pathway in most cases of polycythemia vera (PV). | 0.666276895 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 25040297 | 3717 | JAK2 | umls:C0032463 | BeFree | The role of serum erythropoietin level and JAK2 V617F allele burden in the diagnosis of polycythaemia vera. | 0.666276895 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 22818858 | 3717 | JAK2 | umls:C0032463 | BeFree | Eleven JAK2(V617F) mutated patients developed 13 deep splanchnic thromboses in PV and ET. | 0.666276895 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 25259626 | 3717 | JAK2 | umls:C0032463 | 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). | 0.666276895 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 24786775 | 3717 | JAK2 | umls:C0032463 | BeFree | Our understanding of the genetic basis of myeloproliferative neoplasms began in 2005, when the JAK2 (V617F) mutation was identified in polycythemia vera, essential thrombocythemia, and primary myelofibrosis. | 0.666276895 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 22234689 | 6777 | STAT5B | umls:C0032463 | BeFree | In the present study, we used mice with a conditional null mutation in the Stat5a/b gene locus to determine the requirement for STAT5 in MPNs induced by BCR-ABL1 and JAK2(V617F) in retroviral transplantation models of CML and PV. | 0.001900093 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 21904853 | 867 | CBL | umls:C0032463 | BeFree | We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132), IDH2 (R140 and R172), and c-CBL (exons 8 and 9) in 62 MPN patients (52 essential thrombocythemia (ET), five polycythemia vera (PV), and five primary myelofibrosis (PMF)) negative for both JAK2 (V617F and exon 12) and MPL (exon 10) mutations. | 0.000814326 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 19500139 | 3717 | JAK2 | umls:C0032463 | BeFree | The screening for JAK2 V617F mutation in patients with polycythemia vera, essential thrombocythemia, and idiopathic myelofibrosis offers crucial information for the final diagnosis of these disorders. | 0.666276895 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 21198321 | 3717 | JAK2 | umls:C0032463 | BeFree | JAK2 V617F mutation was found to be positive in 100% of polycythemia vera cases, 68.29% of essential thrombocythemia cases, and 55.28% of all MPD cases whereas negative in idiopathic erythrocytosis, reactive thrombocytosis, and other non-MPD cases such as acute chronic myeloid leukemias. | 0.666276895 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 19939582 | 3717 | JAK2 | umls:C0032463 | BeFree | The V617F JAK2 mutation incidence in polycythemia vera, essential thrombocythemia and idiopathic myelofibrosis are respectively 89.47%, 62.5% and 33.33%. | 0.666276895 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 16384930 | 3717 | JAK2 | umls:C0032463 | BeFree | These results show the presence in PV erythroblasts of proliferative and antiapoptotic signals that may link the JAK2 V617F mutation with the inhibition of death receptor signaling, possibly contributing to a deregulation of erythropoiesis. | 0.666276895 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 17229651 | 3717 | JAK2 | umls:C0032463 | BeFree | Risk of thrombosis in patients with essential thrombocythemia and polycythemia vera according to JAK2 V617F mutation status. | 0.666276895 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 17198871 | 2056 | EPO | umls:C0032463 | BeFree | Our studies correlating the frequency of JAK2(V617F) mutant allele and clonality, as well as the presence of homozygous wild-type JAK2 erythropoietin-independent erythroid colonies, provide compelling evidence that the JAK2(V617F) is not the PV-initiating mutation. | 0.012486326 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 21646683 | 3717 | JAK2 | umls:C0032463 | BeFree | Approximately 96% of patients with polycythemia vera (PV) harbors the V617F mutation in JAK2 exon 14, whereas the minority of JAK2 (V617F)-negative subjects shows several mutations in exon 12. | 0.666276895 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 25023898 | 3717 | JAK2 | umls:C0032463 | BeFree | JAK2 V617F was detected in 140 samples (66 PV, 45 ET and 29 PMF). | 0.666276895 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 16210034 | 3717 | JAK2 | umls:C0032463 | BeFree | Therefore, by necessity, any discussion of PV must take into consideration these companion myeloproliferative disorders, and since erythrocytosis is the single clinical feature that sets PV apart from IMF and ET, it is clear that the presence of the JAK2 V617F mutation cannot by itself establish a diagnosis of PV. | 0.666276895 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 16954506 | 3717 | JAK2 | umls:C0032463 | BeFree | Evidence that the JAK2 G1849T (V617F) mutation occurs in a lymphomyeloid progenitor in polycythemia vera and idiopathic myelofibrosis. | 0.666276895 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 20499211 | 25 | ABL1 | umls:C0032463 | BeFree | Concomitant presence of JAK2 V617F mutation and BCR-ABL translocation in a pregnant woman with polycythemia vera. | 0.008696071 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 20966521 | 3717 | JAK2 | umls:C0032463 | BeFree | JAK2 V617F mutation was found in 51 of 75 cases (68%) of CMPD, 82 per cent in PV, 70 per cent in ET and 52 per cent of IMF. | 0.666276895 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 18838204 | 3717 | JAK2 | umls:C0032463 | BeFree | Finally, the JAK2-V617F load did not influence serum apolipoprotein A-1 levels in ET, a previously validated marker of JAK2-V617F allele burden in PV. | 0.666276895 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 20499211 | 3717 | JAK2 | umls:C0032463 | BeFree | Concomitant presence of JAK2 V617F mutation and BCR-ABL translocation in a pregnant woman with polycythemia vera. | 0.666276895 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 16210035 | 3717 | JAK2 | umls:C0032463 | BeFree | Recently, a unique and clonal mutation in the JAK homology 2 (JH2) domain of JAK2 that results in a valine to phenylalanine substitution at position 617 (V617F) was found in the majority of PV patients. | 0.666276895 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 17852451 | 3717 | JAK2 | umls:C0032463 | BeFree | These preliminary observations indicate that the Jak2(V617F) mutation in particular and PRV-1 overexpression appear to be suitable markers for monitoring treatment efficiency in prospective randomised clinical studies comparing pegylated interferon and hydroxyurea in well defined PV patients with a clear indication for cytoreductive therapy. | 0.666276895 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 19877761 | 3717 | JAK2 | umls:C0032463 | 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. | 0.666276895 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 18854675 | 3717 | JAK2 | umls:C0032463 | BeFree | JAK2 V617F mutation testing in polycythemia vera: use and impact in an academic practice. | 0.666276895 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 24404189 | 3717 | JAK2 | umls:C0032463 | BeFree | Proliferation and survival signaling from both Jak2-V617F and Lyn involving GSK3 and mTOR/p70S6K/4EBP1 in PVTL-1 cell line newly established from acute myeloid leukemia transformed from polycythemia vera. | 0.666276895 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 23469088 | 3717 | JAK2 | umls:C0032463 | BeFree | Lastly, JAK2 V617F mutant allele burden was found much higher in polycythemia vera (PV) patients [median(P25-P75): 45.02%(35.12%-54.22%)] than in essential thrombocythemia (ET) patients [median(P25-P75): 28.23%(17.77%-41.66%)], and that it increased with WBC counts (r = 0.393, p = 0.000) and RBC counts(r = 0.215, p = 0.001), other than platelet counts (r = -0.051, p = 0.452). | 0.666276895 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 16684963 | 3717 | JAK2 | umls:C0032463 | BeFree | Recently, it has been shown that an activating mutation of JAK2 (V617F) was at the origin of PV. | 0.666276895 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 18059484 | 3135 | HLA-G | umls:C0032463 | BeFree | HLA-G turns off erythropoietin receptor signaling through JAK2 and JAK2 V617F dephosphorylation: clinical relevance in polycythemia vera. | 0.000271442 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 20528738 | 3717 | JAK2 | umls:C0032463 | BeFree | Altered signaling is a hallmark of myeloproliferative neoplasms, as demonstrated by the presence of activating JAK2 (V617F) mutation in about 70% of patients (95% of polycythemia vera, 50%-60% of essential thrombocythemia, and 50%-60% of primary myelofibrosis). | 0.666276895 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 25171702 | 3717 | JAK2 | umls:C0032463 | BeFree | Our results indicate that primary myelofibrosis JAK2 V617F and polycythemia vera JAK2 V617F share pathogenetic pathways, resulting in morphologically similar megakaryocytes. | 0.666276895 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 21821860 | 3717 | JAK2 | umls:C0032463 | BeFree | Only the ZNF577 gene showed a differential methylation profile between PV JAK2 V617F positive and controls. | 0.666276895 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 18948049 | 3717 | JAK2 | umls:C0032463 | 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. | 0.666276895 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 26228487 | 3717 | JAK2 | umls:C0032463 | BeFree | The JAK2 c.1849G>T (p.V617F) mutation leads to constitutive activation of Janus kinase (JAK)2 and contributes to dysregulated JAK signaling in myelofibrosis (MF), polycythemia vera (PV), and essential thrombocythemia (ET). | 0.666276895 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 24811089 | 3717 | JAK2 | umls:C0032463 | BeFree | JAK2 V617F mutation frequencies in our PV and ET patients were similar to those reported previously. | 0.666276895 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 18079739 | 3717 | JAK2 | umls:C0032463 | BeFree | We investigated the activity of ITF2357, a novel histone deacetylase inhibitor (HDACi) with antitumor activity, on cells carrying the JAK2(V617F) mutation obtained from polycythemia vera (PV) and essential thrombocythemia (ET) patients as well as the HEL cell line. | 0.666276895 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 17266061 | 3717 | JAK2 | umls:C0032463 | BeFree | A single point mutation (Val617Phe) was identified in JAK2 in 42 (73.7%) of 57 patients with PV, 40 (58.8%) of 68 with ET, and eight (66.7%) of 12 with MMM. | 0.666276895 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 23209034 | 3717 | JAK2 | umls:C0032463 | BeFree | The discovery of the Janus kinase 2 (JAK2) V617F mutation has improved our understanding of the pathophysiology of myeloproliferative neoplasms such as polycythemia vera, essential thrombocythemia, and primary myelofibrosis. | 0.666276895 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 16810614 | 3717 | JAK2 | umls:C0032463 | BeFree | The role of JAK2 V617F mutation, spontaneous erythropoiesis and megakaryocytopoiesis, hypersensitive platelets, activated leukocytes, and endothelial cells in the etiology of thrombotic manifestations in polycythemia vera and essential thrombocythemia. | 0.666276895 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 21904853 | 4352 | MPL | umls:C0032463 | BeFree | We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132), IDH2 (R140 and R172), and c-CBL (exons 8 and 9) in 62 MPN patients (52 essential thrombocythemia (ET), five polycythemia vera (PV), and five primary myelofibrosis (PMF)) negative for both JAK2 (V617F and exon 12) and MPL (exon 10) mutations. | 0.146175429 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 24309205 | 3717 | JAK2 | umls:C0032463 | BeFree | We analyzed Dkk3 serum levels with ELISA in patients with newly diagnosed and untreated MPN, including 10 essential thrombocythemia (ET), 10 polycythemia vera (PV), 10 primary meylofibrosis (PMF) and 10 healthy blood donors and correlated these findings with biological and clinical key data and the JAK2-V617F status. | 0.666276895 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 21953826 | 2057 | EPOR | umls:C0032463 | BeFree | The JAK2 V617F mutation is responsible for the constitutive activation of the erythropoietin receptor signaling pathway in most cases of polycythemia vera (PV). | 0.004810009 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 16197445 | 57126 | CD177 | umls:C0032463 | BeFree | However, compared with the PRV-1 assay, mutation screening for JAK2(V617F) displayed greater accuracy in distinguishing PV from SP. | 0.014959098 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 18300758 | 3717 | JAK2 | umls:C0032463 | 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. | 0.666276895 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 17183644 | 3717 | JAK2 | umls:C0032463 | BeFree | The lack of thrombocytosis suggests that additional events may be required for JAK2 V617F to cause ET, but qualitative platelet abnormalities induced by JAK2 V617F may contribute to the hemostatic complications of PV. | 0.666276895 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 25162887 | 3717 | JAK2 | umls:C0032463 | BeFree | Removing sex as a potential confounder, we identified an accurate molecular method for classifying patients with polycythemia vera according to disease behavior, independently of their JAK2 V617F allele burden, and identified previously unrecognized molecular pathways in polycythemia vera outside the canonical JAK2 pathway that may be amenable to targeted therapy. | 0.666276895 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 17439832 | 3717 | JAK2 | umls:C0032463 | BeFree | Catastrophic intra-abdominal thrombosis can result from a variety of prothrombotic states, including polycythemia vera and essential thrombocythemia, both of which are frequently associated with an acquired mutation (V617F) in the JAK2 gene. | 0.666276895 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 25189723 | 3717 | JAK2 | umls:C0032463 | BeFree | Molecular profiling must include the analysis of JAK2 (looking for the V617F point-mutation in PV and ET, screening exon 12 for mutations only in V617F-negative PV), CALR and MPL mutations (both in V617F-negative ET). | 0.666276895 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 18843287 | 3717 | JAK2 | umls:C0032463 | BeFree | The JAK2 V617F mutation, present in the majority of polycythemia vera (PV) patients, causes constitutive activation of JAK2 and seems to be responsible for the PV phenotype. | 0.666276895 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 22041356 | 3717 | JAK2 | umls:C0032463 | BeFree | The JAK2-V617F mutation was observed in three lineages of granulocytes, platelets, and BFU-E in almost all polycythemia vera (PV) and primary myelofibrosis (PMF) patients. | 0.666276895 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 21904853 | 54790 | TET2 | umls:C0032463 | BeFree | We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132), IDH2 (R140 and R172), and c-CBL (exons 8 and 9) in 62 MPN patients (52 essential thrombocythemia (ET), five polycythemia vera (PV), and five primary myelofibrosis (PMF)) negative for both JAK2 (V617F and exon 12) and MPL (exon 10) mutations. | 0.127991366 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 22006129 | 3717 | JAK2 | umls:C0032463 | BeFree | Different numbers of cell lineages harboring the JAK2-V617F mutation were found, being the lowest in ET (17/30), higher in PV (24/30) and in PMF (22/30). | 0.666276895 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 26235214 | 3717 | JAK2 | umls:C0032463 | BeFree | In addition, a patient with polycythemia vera diagnosed as being JAK2 V617F-negative by unlabeled probe melting curve analysis was found to be positive by the microchip. | 0.666276895 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 18195094 | 3717 | JAK2 | umls:C0032463 | BeFree | We studied the lineage distribution of JAK2 mutations in peripheral blood of 8 polycythemia vera (PV) patients with exon 12 mutations and in 21 PV patients with JAK2-V617F. | 0.666276895 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 16912229 | 3717 | JAK2 | umls:C0032463 | BeFree | An activating JAK2 mutation (JAK2 V617F) is present in the chronic myeloproliferative disorders (MPDs), polycythemia vera (PV), idiopathic myelofibrosis (IMF), and essential thrombocytosis (ET). | 0.666276895 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 16781479 | 9021 | SOCS3 | umls:C0032463 | BeFree | The evolving evidence that JAK2 V617F is not specific for polycythemia vera pathogenesis and the development of disease phenotype is presented as well as alternative candidates for pathogenic mutations such as the protein tyrosine phosphatases and SOCS-3. | 0.003538676 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 20425336 | 2056 | EPO | umls:C0032463 | BeFree | Therefore, a contemporary approach to the diagnosis of polycythemia vera starts with peripheral blood mutation screening for JAK2(V617F) as well as measurement of serum erythropoietin. | 0.012486326 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 18616871 | 7076 | TIMP1 | umls:C0032463 | BeFree | As compared to their JAK2 V617F negative counterparts, the JAK2 V617F positive patients had PV-like biochemical characteristics such as higher haemoglobin levels (p=0.02), lower platelet counts (p=0.002) and lower plasma EPO levels (p=0.04). | 0.000814326 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 17625606 | 3717 | JAK2 | umls:C0032463 | BeFree | We conclude that a burden of JAK2(V617F) allele greater than 75% at diagnosis points to PV patients with high-risk disease. | 0.666276895 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 20551270 | 3717 | JAK2 | umls:C0032463 | BeFree | The JAK2(V617F)mutation is recurrent in polycythemia vera and essential thrombocythemia, which are myeloproliferative neoplasms frequently associated with arterial and venous thromboembolism. | 0.666276895 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 18815196 | 9021 | SOCS3 | umls:C0032463 | 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. | 0.003538676 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 24858412 | 3717 | JAK2 | umls:C0032463 | BeFree | JAK2 V617F was detected in 31 of 51 patients (60.8%) with essential thrombocythemia, all 16 patients (100%) with polycythemia vera, 4 of 11 patients (36.4%) with primary myelofibrosis, 2 of 18 patients (11.1%) with other types of MPNs, and none of the 44 patients with doubted MPN. | 0.666276895 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 18723264 | 947 | CD34 | umls:C0032463 | 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. | 0.005700279 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 16321863 | 3717 | JAK2 | umls:C0032463 | BeFree | Recently, the JAK2 V617F mutation has been reported in high proportions of chronic myeloproliferative disorders, including polycythemia vera. | 0.666276895 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 22313642 | 3717 | JAK2 | umls:C0032463 | BeFree | JAK2 V617F mutation was found in 43 out of 46 patients (93.5%) with PV. | 0.666276895 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 16239216 | 3630 | INS | umls:C0032463 | BeFree | Expression of the JAK2 V617F mutant renders Ba/F3 cells hypersensitive to insulin-like growth factor 1 (IGF1), which is a hallmark of PV erythroid progenitors. | 0.000814326 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 17131059 | 3717 | JAK2 | umls:C0032463 | BeFree | We pay particular attention to the newly identified JAK2 V617F mutation in polycythaemia vera, essential thrombocythaemia and idiopathic myelofibrosis and deal with disease heterogeneity and putative additional molecular mechanisms. | 0.666276895 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 21660494 | 3717 | JAK2 | umls:C0032463 | BeFree | In polycythemia vera, gender has recently been shown to influence the JAK2(V617F) allele burden, but its effect on the disease phenotype is unknown. | 0.666276895 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 16197445 | 3717 | JAK2 | umls:C0032463 | BeFree | However, compared with the PRV-1 assay, mutation screening for JAK2(V617F) displayed greater accuracy in distinguishing PV from SP. | 0.666276895 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 21904853 | 3417 | IDH1 | umls:C0032463 | BeFree | We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132), IDH2 (R140 and R172), and c-CBL (exons 8 and 9) in 62 MPN patients (52 essential thrombocythemia (ET), five polycythemia vera (PV), and five primary myelofibrosis (PMF)) negative for both JAK2 (V617F and exon 12) and MPL (exon 10) mutations. | 0.003452799 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 18612778 | 3717 | JAK2 | umls:C0032463 | BeFree | Megakaryopoiesis and platelet function in polycythemia vera and essential thrombocythemia patients with JAK2 V617F mutation. | 0.666276895 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 19806146 | 3717 | JAK2 | umls:C0032463 | BeFree | JAK2 V617F is found in most patients with polycythemia vera, essential thrombocythemia, or primary myelofibrosis and is, therefore, useful as a clonal marker in those settings. | 0.666276895 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 25278584 | 3717 | JAK2 | umls:C0032463 | BeFree | Polycythemia vera (PV) is a chronic myeloproliferative neoplasm associated with JAK2 mutations (V617F or exon 12) in almost all cases. | 0.666276895 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 20331763 | 3717 | JAK2 | umls:C0032463 | BeFree | The positive rate of JAK2 V617F in polycythaemia vera (PV), essential thrombocythaemia (ET) and primary myelofibrosis (PMF) was 82.0%, 36.6% and 51.1% respectively. | 0.666276895 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 23542632 | 3717 | JAK2 | umls:C0032463 | BeFree | A short TL correlated with JAK2-V617F allele burden greater than 50% (p = 0.0025), age (p = 0.0132) and diagnosis of PV (p = 0.0122). | 0.666276895 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 26071474 | 811 | CALR | umls:C0032463 | 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). | 0.001628651 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 22524513 | 3717 | JAK2 | umls:C0032463 | BeFree | JAK2(V617F) may assist in prognostic stratification of patients with PV. | 0.666276895 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 16239216 | 3479 | IGF1 | umls:C0032463 | BeFree | JAK1 and Tyk2 activation by the homologous polycythemia vera JAK2 V617F mutation: cross-talk with IGF1 receptor. | 0.000542884 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 16827884 | 3717 | JAK2 | umls:C0032463 | BeFree | All four samples were positive for JAK2 V617F, confirming the presence of a clonal hematopoietic disorder consistent with PV. | 0.666276895 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 16781479 | 3717 | JAK2 | umls:C0032463 | BeFree | The evolving evidence that JAK2 V617F is not specific for polycythemia vera pathogenesis and the development of disease phenotype is presented as well as alternative candidates for pathogenic mutations such as the protein tyrosine phosphatases and SOCS-3. | 0.666276895 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 20650526 | 3717 | JAK2 | umls:C0032463 | BeFree | JAK2(V617F) allele burden in polycythemia vera correlates with grade of myelofibrosis, but is not substantially affected by therapy. | 0.666276895 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 18623221 | 3717 | JAK2 | umls:C0032463 | BeFree | JAK2 V617F positive polycythemia Vera in a child with neurofibromatosis type I. | 0.666276895 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 23116358 | 3717 | JAK2 | umls:C0032463 | BeFree | The JAK2 V617F somatic mutation is present in the majority of patients with myeloproliferative cancer (polycythaemia vera, essential thrombocytosis, and primary myelofibrosis). | 0.666276895 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 22065597 | 3717 | JAK2 | umls:C0032463 | BeFree | The JAK2(V617F) mutation is present in the majority of patients with polycythemia vera and one-half of those with essential thrombocythemia and primary myelofibrosis. | 0.666276895 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 17976517 | 3717 | JAK2 | umls:C0032463 | BeFree | An activating somatic mutation of Janus kinase 2 V617F (JAK2V617F) is present in most polycythemia vera (PV) patients. | 0.666276895 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 17059429 | 3717 | JAK2 | umls:C0032463 | BeFree | After a median follow-up of 41 months (range 3-114 months), three out of the 10 patients carrying the JAK2 V617F mutation were then diagnosed as having idiopathic myelofibrosis (n = 2) or polycythemia vera (n = 1), whereas in seven patients a MPD was not detected. | 0.666276895 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 22102708 | 3717 | JAK2 | umls:C0032463 | BeFree | Decrease in JAK2 V617F allele burden is not a prerequisite to clinical response in patients with polycythemia vera. | 0.666276895 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 19657484 | 3717 | JAK2 | umls:C0032463 | BeFree | The JAK2(V617F) mutation is present in the majority of patients with polycythaemia vera and in approximately half of patients with essential thrombocythaemia and primary myelofibrosis. | 0.666276895 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 19843380 | 4352 | MPL | umls:C0032463 | BeFree | In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation and the MPL W515K mutation; 17 patients with essential thrombocythemia (ET), eight with polycythemia vera (PV), four with primary mielofibrosis (MF), five with undifferentiated MPN, one with primary erythrocytosis and one with familial thrombocytosis. | 0.146175429 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 16987804 | 3717 | JAK2 | umls:C0032463 | BeFree | We tested 22 patients with high oxygen affinity beta chain variants for the presence of the JAK2 V617F mutation that has been reported in chronic myeloproliferative disorders, particularly polycythemia vera. | 0.666276895 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 18769448 | 3717 | JAK2 | umls:C0032463 | BeFree | The BCR-ABL-negative myeloproliferative neoplasms (MPNs), polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF), entered the spotlight in 2005 when the unique somatic acquired JAK2 V617F mutation was described in >95% of PV and in 50% of ET and PMF patients. | 0.666276895 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 17979493 | 3717 | JAK2 | umls:C0032463 | BeFree | Most patients with polycythemia vera have JAK2(V617F) mutation. | 0.666276895 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 23926298 | 3717 | JAK2 | umls:C0032463 | BeFree | Genetic or PAD-mediated PP2A reactivation induces Jak2(V617F) inactivation/downregulation and impairs clonogenic potential of Jak2(V617F) cell lines and PV but not normal CD34(+) progenitors. | 0.666276895 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 18575049 | 3717 | JAK2 | umls:C0032463 | BeFree | The V617F mutation of JAK2 is the key molecular event in 90% of polycythaemia vera (PV), 50% of essential thrombocythaemia (ET) and 50% of primary myelofibrosis (PMF). | 0.666276895 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 16373657 | 3717 | JAK2 | umls:C0032463 | BeFree | A JAK2 (V617F) gene dosage effect on both CD34(+) cell counts and granulocyte activation was clearly demonstrated in polycythemia vera, where abnormal patterns were mainly found in patients carrying more than 50% mutant alleles. | 0.666276895 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 16772604 | 3717 | JAK2 | umls:C0032463 | BeFree | An acquired V617F JAK2 mutation occurs in patients with polycythemia vera (PV) or essential thrombocythemia (ET). | 0.666276895 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 16919893 | 3717 | JAK2 | umls:C0032463 | BeFree | The specificity of a JAK2 V617F PCR test for the diagnosis of MPD is high (near 100%), but only half of ET and MF (50%) and the majority of PV (up to 97%) are JAK2 V617F positive. | 0.666276895 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 16239216 | 7297 | TYK2 | umls:C0032463 | BeFree | JAK1 and Tyk2 activation by the homologous polycythemia vera JAK2 V617F mutation: cross-talk with IGF1 receptor. | 0.000542884 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 16304380 | 3717 | JAK2 | umls:C0032463 | BeFree | A unique activating mutation in JAK2 (V617F) is at the origin of polycythemia vera and allows a new classification of myeloproliferative diseases. | 0.666276895 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 20013324 | 6772 | STAT1 | umls:C0032463 | BeFree | Activated STAT1 and STAT5 transcription factors in extramedullary hematopoietic tissue in a polycythemia vera patient carrying the JAK2 V617F mutation. | 0.000542884 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 17852451 | 57126 | CD177 | umls:C0032463 | BeFree | These preliminary observations indicate that the Jak2(V617F) mutation in particular and PRV-1 overexpression appear to be suitable markers for monitoring treatment efficiency in prospective randomised clinical studies comparing pegylated interferon and hydroxyurea in well defined PV patients with a clear indication for cytoreductive therapy. | 0.014959098 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 21904853 | 3418 | IDH2 | umls:C0032463 | BeFree | We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132), IDH2 (R140 and R172), and c-CBL (exons 8 and 9) in 62 MPN patients (52 essential thrombocythemia (ET), five polycythemia vera (PV), and five primary myelofibrosis (PMF)) negative for both JAK2 (V617F and exon 12) and MPL (exon 10) mutations. | 0.003181358 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 16741247 | 3717 | JAK2 | umls:C0032463 | BeFree | The detection rate of JAK2 V617F mutants for polycythemia vera, chronic idiopathic myelofibrosis, and essential thrombocythemia (n = 103) was similar to the previously reported results. | 0.666276895 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 17194663 | 3717 | JAK2 | umls:C0032463 | 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. | 0.666276895 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 20306156 | 3717 | JAK2 | umls:C0032463 | BeFree | Recently, Janus kinase-2 (JAK2) V617F mutation has an important role in the diagnosis of myeloproliferative disorders, especially in polycythemia vera (PV). | 0.666276895 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 17198871 | 3717 | JAK2 | umls:C0032463 | BeFree | We conclude that development of therapeutic strategies that target the JAK2(V617F) clonal cells may not be sufficient for eradication of PV. | 0.666276895 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 17194663 | 25 | ABL1 | umls:C0032463 | 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. | 0.008696071 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 23213945 | 3717 | JAK2 | umls:C0032463 | BeFree | The JAK2-V617F mutation significantly correlated with higher leukocyte count and alkaline phosphatase co re in ET group and with higher platelets count, leukocyte alkaline phosphatase score and serum lactate dehydrogenase in PV group. | 0.666276895 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 20339092 | 861 | RUNX1 | umls:C0032463 | BeFree | AML1 mRNA expression was elevated in patients with PV, essential thrombocythemia, and primary myelofibrosis both in the presence and absence of JAK2(V617F). | 0.000542884 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 25116092 | 811 | CALR | umls:C0032463 | BeFree | JAK2/MPL wild-type, CALR mutated hypercellular ET associated with PMGM is featured by dense clustered large immature dysmorphic megakaryocytes and bulky (cloud-like) hyperchromatic nuclei, which are never seen in WHO-ECMP-defined JAK2(V617F) mutated ET, EMGM and PV, and neither in JAK2 wild-type ET carrying the MPL(515) mutation. | 0.001628651 | 2014 | NA | NA | NA | NA | NA |
| rs77375493 | 23213945 | 3717 | JAK2 | umls:C0032463 | BeFree | The JAK2-V617F mutation significantly correlated with higher leukocyte count and alkaline phosphatase co re in ET group and with higher platelets count, leukocyte alkaline phosphatase score and serum lactate dehydrogenase in PV group. | 0.666276895 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16210034 | 3717 | JAK2 | umls:C0032463 | BeFree | Therefore, by necessity, any discussion of PV must take into consideration these companion myeloproliferative disorders, and since erythrocytosis is the single clinical feature that sets PV apart from IMF and ET, it is clear that the presence of the JAK2 V617F mutation cannot by itself establish a diagnosis of PV. | 0.666276895 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16919893 | 3717 | JAK2 | umls:C0032463 | BeFree | The specificity of a JAK2 V617F PCR test for the diagnosis of MPD is high (near 100%), but only half of ET and MF (50%) and the majority of PV (up to 97%) are JAK2 V617F positive. | 0.666276895 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16384930 | 8743 | TNFSF10 | umls:C0032463 | BeFree | With the use of an in vitro culture system to generate differentiating erythroid cells, we found that erythroblasts derived from patients with PV harboring the JAK2 V617F mutation were able to proliferate and generate higher numbers of mature erythroid cells in the presence of inhibitory signals delivered by CD95 (Fas/Apo-1) and TRAIL receptor stimulation. | 0.000271442 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18972067 | 3717 | JAK2 | umls:C0032463 | BeFree | The aim of this study was to clarify whether JAK2(V617F) PV with thromboembolism is characterised by CD239 overexpression. | 0.666276895 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22722988 | 3717 | JAK2 | umls:C0032463 | BeFree | Evaluation of the JAK2-V617F gene mutation in Turkish patients with essential thrombocythemia and polycythemia vera. | 0.666276895 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16239216 | 3630 | INS | umls:C0032463 | BeFree | Expression of the JAK2 V617F mutant renders Ba/F3 cells hypersensitive to insulin-like growth factor 1 (IGF1), which is a hallmark of PV erythroid progenitors. | 0.000814326 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16373657 | 3717 | JAK2 | umls:C0032463 | BeFree | A JAK2 (V617F) gene dosage effect on both CD34(+) cell counts and granulocyte activation was clearly demonstrated in polycythemia vera, where abnormal patterns were mainly found in patients carrying more than 50% mutant alleles. | 0.666276895 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21198321 | 3717 | JAK2 | umls:C0032463 | BeFree | JAK2 V617F mutation was found to be positive in 100% of polycythemia vera cases, 68.29% of essential thrombocythemia cases, and 55.28% of all MPD cases whereas negative in idiopathic erythrocytosis, reactive thrombocytosis, and other non-MPD cases such as acute chronic myeloid leukemias. | 0.666276895 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19826111 | 3717 | JAK2 | umls:C0032463 | BeFree | The molecular response rate was 38% in ET and 54% in PV, being complete (undetectable JAK2(V617F)) in 6% and 14%, respectively. | 0.666276895 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16384930 | 3717 | JAK2 | umls:C0032463 | BeFree | These results show the presence in PV erythroblasts of proliferative and antiapoptotic signals that may link the JAK2 V617F mutation with the inhibition of death receptor signaling, possibly contributing to a deregulation of erythropoiesis. | 0.666276895 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18482053 | 3717 | JAK2 | umls:C0032463 | BeFree | The somatic activating janus kinase 2 mutation (JAK2)(V617F) is detectable in most patients with polycythemia vera (PV). | 0.666276895 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22847163 | 3717 | JAK2 | umls:C0032463 | BeFree | Chronic myeloproliferative neoplasms (MPN) are clonal disorders of hematopoietic stem cells, which fall into distinct categories based on a number of characteristics including the presence of the BCR-ABL1 gene fusion (chronic myelogenous leukemia) or the JAK2(V617F) mutation (polycythemia vera, primary myelofibrosis, and essential thrombocythemia). | 0.666276895 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17194663 | 25 | ABL1 | umls:C0032463 | 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. | 0.008696071 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18336541 | 3717 | JAK2 | umls:C0032463 | BeFree | The frequency of JAK2-V617F mutation in patients with polycythaemia vera, essential thrombocythaemia and idiopathic myelofibrosis (IMF) was determined in the DNA from the peripheral blood leucocytes of 108 patients by genomic polymerase chain reaction and restriction enzyme-based assay. | 0.666276895 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17379069 | 3717 | JAK2 | umls:C0032463 | BeFree | These data suggest that the JAK2(V617F) mutation plays an important role in the biology of PV, yet it may not be the PV-initiating event. | 0.666276895 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16781479 | 9021 | SOCS3 | umls:C0032463 | BeFree | The evolving evidence that JAK2 V617F is not specific for polycythemia vera pathogenesis and the development of disease phenotype is presented as well as alternative candidates for pathogenic mutations such as the protein tyrosine phosphatases and SOCS-3. | 0.003538676 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21950422 | 3717 | JAK2 | umls:C0032463 | BeFree | LCN-2 mRNA showed a near 50-fold increase in expression, accompanied by down-regulation of SLC22A17, coinciding with increase in BCR-ABL transcripts, loss of JAK2-V617F and change of clinical phenotype from polycythaemia vera to chronic myeloid leukaemia. | 0.666276895 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19497108 | 3717 | JAK2 | umls:C0032463 | BeFree | Since the V617F mutation in JAK2 may not be the initiating event in myeloprofilerative disorders (MPDs) we compared molecular changes in neutrophils from patients with polycythemia vera (PV) and essential thrombocythosis (ET), to neutrophils stimulated by G-CSF administration and to normal unstimulated neutrophils | 0.666276895 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22313642 | 3717 | JAK2 | umls:C0032463 | BeFree | JAK2 V617F mutation was found in 43 out of 46 patients (93.5%) with PV. | 0.666276895 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20013324 | 6772 | STAT1 | umls:C0032463 | BeFree | Activated STAT1 and STAT5 transcription factors in extramedullary hematopoietic tissue in a polycythemia vera patient carrying the JAK2 V617F mutation. | 0.000542884 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19772888 | 3717 | JAK2 | umls:C0032463 | BeFree | A novel zebrafish jak2a(V581F) model shared features of human JAK2(V617F) polycythemia vera. | 0.666276895 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18768782 | 3717 | JAK2 | umls:C0032463 | BeFree | We used the thrombin generation assay to evaluate the hypercoagulable state according to JAK2(V617F) mutational status in essential thrombocythemia (ET) and polycythemia vera (PV) patients. | 0.666276895 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20473593 | 3717 | JAK2 | umls:C0032463 | BeFree | Circulating endothelial cells in essential thrombocythemia and polycythemia vera: correlation with JAK2-V617F mutational status, angiogenic factors and coagulation activation markers. | 0.666276895 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22041356 | 3717 | JAK2 | umls:C0032463 | BeFree | The JAK2-V617F mutation was observed in three lineages of granulocytes, platelets, and BFU-E in almost all polycythemia vera (PV) and primary myelofibrosis (PMF) patients. | 0.666276895 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16684963 | 3717 | JAK2 | umls:C0032463 | BeFree | Recently, it has been shown that an activating mutation of JAK2 (V617F) was at the origin of PV. | 0.666276895 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16810609 | 3717 | JAK2 | umls:C0032463 | BeFree | This indicates that JAK2 V617-positive ET patients, diagnosed according to the PVSG criteria, represent a forme fruste of PV consistent with early PV mimicking ET (JAK2 V617F trilinear MPD). | 0.666276895 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18245540 | 3717 | JAK2 | umls:C0032463 | BeFree | As expected, WP1066 inhibited the proliferation of peripheral blood hematopoietic progenitors of patients with polycythemia vera carrying the JAK2 V617F mutation in a dose-dependent manner. | 0.666276895 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22524513 | 3717 | JAK2 | umls:C0032463 | BeFree | JAK2(V617F) may assist in prognostic stratification of patients with PV. | 0.666276895 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18948049 | 3717 | JAK2 | umls:C0032463 | 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. | 0.666276895 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25189723 | 3717 | JAK2 | umls:C0032463 | BeFree | Molecular profiling must include the analysis of JAK2 (looking for the V617F point-mutation in PV and ET, screening exon 12 for mutations only in V617F-negative PV), CALR and MPL mutations (both in V617F-negative ET). | 0.666276895 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20663870 | 3717 | JAK2 | umls:C0032463 | BeFree | This phenotype is quite different from that observed in polycythemia vera (PV) caused by JAK2 V617F, whereas both oncogenic TKs activate common downstream molecules at the level of hematopoietic stem cells (HSCs). | 0.666276895 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18300758 | 3717 | JAK2 | umls:C0032463 | 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. | 0.666276895 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19877761 | 3717 | JAK2 | umls:C0032463 | 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. | 0.666276895 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16772604 | 3717 | JAK2 | umls:C0032463 | BeFree | An acquired V617F JAK2 mutation occurs in patients with polycythemia vera (PV) or essential thrombocythemia (ET). | 0.666276895 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17852451 | 57126 | CD177 | umls:C0032463 | BeFree | These preliminary observations indicate that the Jak2(V617F) mutation in particular and PRV-1 overexpression appear to be suitable markers for monitoring treatment efficiency in prospective randomised clinical studies comparing pegylated interferon and hydroxyurea in well defined PV patients with a clear indication for cytoreductive therapy. | 0.014959098 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19287384 | 3717 | JAK2 | umls:C0032463 | BeFree | Given that the identical somatic activating mutation in the JAK2 tyrosine kinase gene (JAK2(V617F)) is observed in most individuals with polycythemia vera, essential thrombocythemia and primary myelofibrosis, there likely are additional genetic events that contribute to the pathogenesis of these phenotypically distinct disorders. | 0.666276895 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19167611 | 25 | ABL1 | umls:C0032463 | BeFree | The acquired Janus kinase 2 (JAK2) V617F mutation shows a high frequency in diverse BCR/ABL-negative chronic myeloproliferative disorders (CMPD), and it is typically associated with polycythemia vera (PV). | 0.008696071 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17976518 | 3717 | JAK2 | umls:C0032463 | BeFree | The JAK2 V617F somatic mutation is found in most PV patients; however, it is not the disease-initiating mutation. | 0.666276895 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20339092 | 861 | RUNX1 | umls:C0032463 | BeFree | AML1 mRNA expression was elevated in patients with PV, essential thrombocythemia, and primary myelofibrosis both in the presence and absence of JAK2(V617F). | 0.000542884 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23391844 | 3717 | JAK2 | umls:C0032463 | BeFree | The JAK2 V617F mutation has been detected in patients with classical myeloproliferative disorders (MPD) including polycythemia vera and essential thrombocythemia and idiopathic myelofibrosis. | 0.666276895 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17059429 | 3717 | JAK2 | umls:C0032463 | BeFree | After a median follow-up of 41 months (range 3-114 months), three out of the 10 patients carrying the JAK2 V617F mutation were then diagnosed as having idiopathic myelofibrosis (n = 2) or polycythemia vera (n = 1), whereas in seven patients a MPD was not detected. | 0.666276895 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22890406 | 3717 | JAK2 | umls:C0032463 | BeFree | No evidence for JAK2(V617F) mutation in monoclonal B cells in 2 patients with polycythaemia vera and concurrent monoclonal B cell disorder. | 0.666276895 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20499211 | 25 | ABL1 | umls:C0032463 | BeFree | Concomitant presence of JAK2 V617F mutation and BCR-ABL translocation in a pregnant woman with polycythemia vera. | 0.008696071 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 24951423 | 3717 | JAK2 | umls:C0032463 | BeFree | Thus, mice developing PV secondary to constitutive JAK2(V617F) expression exhibit a bleeding tendency combined with the accelerated formation of unstable clots, reminiscent of observations made in patients. | 0.666276895 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23926298 | 947 | CD34 | umls:C0032463 | BeFree | Genetic or PAD-mediated PP2A reactivation induces Jak2(V617F) inactivation/downregulation and impairs clonogenic potential of Jak2(V617F) cell lines and PV but not normal CD34(+) progenitors. | 0.005700279 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23558526 | 3717 | JAK2 | umls:C0032463 | BeFree | Mice engrafted with 30% of Jak2(V617F) KI bone marrow (BM) cells developed a polycythemia vera-like disorder. | 0.666276895 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23588264 | 3717 | JAK2 | umls:C0032463 | BeFree | Polycythemia vera and the Jak2(V617F) mutation in a case of hereditary spherocytosis. | 0.666276895 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18815196 | 9021 | SOCS3 | umls:C0032463 | 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. | 0.003538676 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22006129 | 3717 | JAK2 | umls:C0032463 | BeFree | Different numbers of cell lineages harboring the JAK2-V617F mutation were found, being the lowest in ET (17/30), higher in PV (24/30) and in PMF (22/30). | 0.666276895 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16946305 | 3717 | JAK2 | umls:C0032463 | BeFree | Recently, the JAK2(V617F) mutation was found in patients with myeloproliferative disorders (MPDs), including most with polycythemia vera (PV). | 0.666276895 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17961178 | 3717 | JAK2 | umls:C0032463 | BeFree | The JAK2 V617F tyrosine kinase mutation is present in the great majority of patients with polycythemia vera (PV), and approximately half of the patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF). | 0.666276895 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16197451 | 3717 | JAK2 | umls:C0032463 | BeFree | Therefore, although the presence of JAK2(V617F) in ET appears to promote a PV phenotype, it might not carry treatment-relevant information. | 0.666276895 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21950422 | 3934 | LCN2 | umls:C0032463 | BeFree | LCN-2 mRNA showed a near 50-fold increase in expression, accompanied by down-regulation of SLC22A17, coinciding with increase in BCR-ABL transcripts, loss of JAK2-V617F and change of clinical phenotype from polycythaemia vera to chronic myeloid leukaemia. | 0.000542884 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17285276 | 3717 | JAK2 | umls:C0032463 | BeFree | the BCR-ABL fusion characteristic of chronic myeloid leukemia and the JAK2 V617F mutation that characterises polycythaemia vera and a proportion of cases of essential thrombocythemia and idiopathic myelofibrosis. | 0.666276895 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19941739 | 3717 | JAK2 | umls:C0032463 | BeFree | Long term treatment with IFN2b is able to induce 'minimal residual disease' with very low JAK2 V617F allele burden and may induce profound, and in some patients total, regression of histomorphological bone marrow features of PV. | 0.666276895 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22642932 | 3717 | JAK2 | umls:C0032463 | BeFree | Detection of JAK2 mutations in paraffin marrow biopsies by high resolution melting analysis: identification of L611S alone and in cis with V617F in polycythemia vera. | 0.666276895 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16949922 | 3717 | JAK2 | umls:C0032463 | BeFree | Overall, the incidence of the JAK2 V617F mutation was 87% in PV, 67% in ET, and 66% in CIM. | 0.666276895 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20013324 | 6776 | STAT5A | umls:C0032463 | BeFree | Activated STAT1 and STAT5 transcription factors in extramedullary hematopoietic tissue in a polycythemia vera patient carrying the JAK2 V617F mutation. | 0.002171535 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17262192 | 3717 | JAK2 | umls:C0032463 | BeFree | Different involvement of the megakaryocytic lineage by the JAK2 V617F mutation in Polycythemia vera, essential thrombocythemia and chronic idiopathic myelofibrosis. | 0.666276895 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25116092 | 4352 | MPL | umls:C0032463 | BeFree | JAK2/MPL wild-type, CALR mutated hypercellular ET associated with PMGM is featured by dense clustered large immature dysmorphic megakaryocytes and bulky (cloud-like) hyperchromatic nuclei, which are never seen in WHO-ECMP-defined JAK2(V617F) mutated ET, EMGM and PV, and neither in JAK2 wild-type ET carrying the MPL(515) mutation. | 0.146175429 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20331763 | 3717 | JAK2 | umls:C0032463 | BeFree | The positive rate of JAK2 V617F in polycythaemia vera (PV), essential thrombocythaemia (ET) and primary myelofibrosis (PMF) was 82.0%, 36.6% and 51.1% respectively. | 0.666276895 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16081684 | 3717 | JAK2 | umls:C0032463 | BeFree | Patients with PV who were homozygous or heterozygous for JAK2-V617F exhibited higher levels of expression of the 13 new markers, PRV1, and NF-E2 than patients without JAK2-V617F, whereas ANKRD15 was down-regulated in these patients. | 0.666276895 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 24404189 | 3717 | JAK2 | umls:C0032463 | BeFree | Proliferation and survival signaling from both Jak2-V617F and Lyn involving GSK3 and mTOR/p70S6K/4EBP1 in PVTL-1 cell line newly established from acute myeloid leukemia transformed from polycythemia vera. | 0.666276895 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16197445 | 57126 | CD177 | umls:C0032463 | BeFree | However, compared with the PRV-1 assay, mutation screening for JAK2(V617F) displayed greater accuracy in distinguishing PV from SP. | 0.014959098 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 24309205 | 3717 | JAK2 | umls:C0032463 | BeFree | We analyzed Dkk3 serum levels with ELISA in patients with newly diagnosed and untreated MPN, including 10 essential thrombocythemia (ET), 10 polycythemia vera (PV), 10 primary meylofibrosis (PMF) and 10 healthy blood donors and correlated these findings with biological and clinical key data and the JAK2-V617F status. | 0.666276895 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25259626 | 3717 | JAK2 | umls:C0032463 | 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). | 0.666276895 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16810609 | 4597 | MVD | umls:C0032463 | BeFree | This indicates that JAK2 V617-positive ET patients, diagnosed according to the PVSG criteria, represent a forme fruste of PV consistent with early PV mimicking ET (JAK2 V617F trilinear MPD). | 0.002171535 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19806146 | 3717 | JAK2 | umls:C0032463 | BeFree | JAK2 V617F is found in most patients with polycythemia vera, essential thrombocythemia, or primary myelofibrosis and is, therefore, useful as a clonal marker in those settings. | 0.666276895 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22234689 | 6777 | STAT5B | umls:C0032463 | BeFree | In the present study, we used mice with a conditional null mutation in the Stat5a/b gene locus to determine the requirement for STAT5 in MPNs induced by BCR-ABL1 and JAK2(V617F) in retroviral transplantation models of CML and PV. | 0.001900093 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21904853 | 3417 | IDH1 | umls:C0032463 | BeFree | We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132), IDH2 (R140 and R172), and c-CBL (exons 8 and 9) in 62 MPN patients (52 essential thrombocythemia (ET), five polycythemia vera (PV), and five primary myelofibrosis (PMF)) negative for both JAK2 (V617F and exon 12) and MPL (exon 10) mutations. | 0.003452799 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19843380 | 613 | BCR | umls:C0032463 | BeFree | In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation and the MPL W515K mutation; 17 patients with essential thrombocythemia (ET), eight with polycythemia vera (PV), four with primary mielofibrosis (MF), five with undifferentiated MPN, one with primary erythrocytosis and one with familial thrombocytosis. | 0.003810118 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18854675 | 3717 | JAK2 | umls:C0032463 | BeFree | JAK2 V617F mutation testing in polycythemia vera: use and impact in an academic practice. | 0.666276895 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18464114 | 3717 | JAK2 | umls:C0032463 | BeFree | Sixty-eight BCR/ABL-negative MPD patients (46.3%) were found harboring JAK2 V617F mutation (PV, 62.5%; ET, 42.1%; IMF 38.1%). | 0.666276895 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18481066 | 3717 | JAK2 | umls:C0032463 | BeFree | We report here the first profound and sustained molecular responses with a JAK2 V617F allele burden below 1.0% in two patients with polycythemia vera treated with interferon alpha-2b (IFN-2b). | 0.666276895 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 26228487 | 3717 | JAK2 | umls:C0032463 | BeFree | The JAK2 c.1849G>T (p.V617F) mutation leads to constitutive activation of Janus kinase (JAK)2 and contributes to dysregulated JAK signaling in myelofibrosis (MF), polycythemia vera (PV), and essential thrombocythemia (ET). | 0.666276895 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18033315 | 3717 | JAK2 | umls:C0032463 | BeFree | We conclude that in vivo expression of JAK2 V617F results in ET-, PMF- and PV-like disease. | 0.666276895 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19965650 | 3717 | JAK2 | umls:C0032463 | BeFree | The acquired somatic Janus kinase 2 (JAK2) V617F mutation is present in the majority of PV and ET patients. | 0.666276895 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21219298 | 3717 | JAK2 | umls:C0032463 | BeFree | Modulation of JAK2 V617F allele burden dynamics by hydroxycarbamide in polycythaemia vera and essential thrombocythaemia patients. | 0.666276895 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25116092 | 811 | CALR | umls:C0032463 | BeFree | JAK2/MPL wild-type, CALR mutated hypercellular ET associated with PMGM is featured by dense clustered large immature dysmorphic megakaryocytes and bulky (cloud-like) hyperchromatic nuclei, which are never seen in WHO-ECMP-defined JAK2(V617F) mutated ET, EMGM and PV, and neither in JAK2 wild-type ET carrying the MPL(515) mutation. | 0.001628651 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20472853 | 2056 | EPO | umls:C0032463 | BeFree | Clinically suspected PV with low serum erythropoietin and absent JAK2(V617F), together with the bone marrow findings of erythroid hyperplasia and subtle megakaryocytic atypia, should prompt an evaluation for an exon 12 mutation. | 0.012486326 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17198871 | 2056 | EPO | umls:C0032463 | BeFree | Our studies correlating the frequency of JAK2(V617F) mutant allele and clonality, as well as the presence of homozygous wild-type JAK2 erythropoietin-independent erythroid colonies, provide compelling evidence that the JAK2(V617F) is not the PV-initiating mutation. | 0.012486326 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23666689 | 3717 | JAK2 | umls:C0032463 | BeFree | Recently, a point mutation in the JAK2 gene, JAK2 (V617F) , was discovered in several myeloid proliferative neoplasms including polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). | 0.666276895 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21904853 | 3717 | JAK2 | umls:C0032463 | BeFree | We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132), IDH2 (R140 and R172), and c-CBL (exons 8 and 9) in 62 MPN patients (52 essential thrombocythemia (ET), five polycythemia vera (PV), and five primary myelofibrosis (PMF)) negative for both JAK2 (V617F and exon 12) and MPL (exon 10) mutations. | 0.666276895 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18815196 | 3717 | JAK2 | umls:C0032463 | BeFree | The JAK2 V617F mutation can be found in patients with polycythemia vera, essential thrombocythemia and idiopathic myelofibrosis. | 0.666276895 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19843380 | 4352 | MPL | umls:C0032463 | BeFree | In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation and the MPL W515K mutation; 17 patients with essential thrombocythemia (ET), eight with polycythemia vera (PV), four with primary mielofibrosis (MF), five with undifferentiated MPN, one with primary erythrocytosis and one with familial thrombocytosis. | 0.146175429 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18612778 | 3717 | JAK2 | umls:C0032463 | BeFree | Megakaryopoiesis and platelet function in polycythemia vera and essential thrombocythemia patients with JAK2 V617F mutation. | 0.666276895 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18616871 | 3717 | JAK2 | umls:C0032463 | BeFree | The JAK2 V617F mutation per se but not the mutational load in patients with ET is associated with a PV-like phenotype and a higher prevalence of previous arterial thrombosis. | 0.666276895 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19093167 | 3717 | JAK2 | umls:C0032463 | BeFree | The JAK2 V617F mutation is present in most patients with polycythemia vera, but in fewer patients with essential thrombocythemia (ET). | 0.666276895 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21273266 | 3717 | JAK2 | umls:C0032463 | BeFree | We showed that in vitro the concomitant presence of JAK2(V617F) and TET2 mutations favors clonal polycythemia vera erythroid progenitors in contrast with non-TET2 mutated progenitors. | 0.666276895 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21904853 | 3418 | IDH2 | umls:C0032463 | BeFree | We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132), IDH2 (R140 and R172), and c-CBL (exons 8 and 9) in 62 MPN patients (52 essential thrombocythemia (ET), five polycythemia vera (PV), and five primary myelofibrosis (PMF)) negative for both JAK2 (V617F and exon 12) and MPL (exon 10) mutations. | 0.003181358 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20650526 | 3717 | JAK2 | umls:C0032463 | BeFree | JAK2(V617F) allele burden in polycythemia vera correlates with grade of myelofibrosis, but is not substantially affected by therapy. | 0.666276895 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18723264 | 3717 | JAK2 | umls:C0032463 | 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. | 0.666276895 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16239216 | 3479 | IGF1 | umls:C0032463 | BeFree | JAK1 and Tyk2 activation by the homologous polycythemia vera JAK2 V617F mutation: cross-talk with IGF1 receptor. | 0.000542884 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17266061 | 3717 | JAK2 | umls:C0032463 | BeFree | A single point mutation (Val617Phe) was identified in JAK2 in 42 (73.7%) of 57 patients with PV, 40 (58.8%) of 68 with ET, and eight (66.7%) of 12 with MMM. | 0.666276895 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17369568 | 3717 | JAK2 | umls:C0032463 | BeFree | The JAK2 V617F mutation in children with PV was significantly less frequent than in adult PV. | 0.666276895 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 26071474 | 811 | CALR | umls:C0032463 | 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). | 0.001628651 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19167611 | 3717 | JAK2 | umls:C0032463 | BeFree | JAK2 V617F/C618R mutation in a patient with polycythemia vera: a case study and review of the literature. | 0.666276895 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19843380 | 3717 | JAK2 | umls:C0032463 | BeFree | The most consistent relationship was that between PV and the JAK2 V617F mutation (p=0.08). | 0.666276895 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20013324 | 6777 | STAT5B | umls:C0032463 | BeFree | Activated STAT1 and STAT5 transcription factors in extramedullary hematopoietic tissue in a polycythemia vera patient carrying the JAK2 V617F mutation. | 0.001900093 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22028900 | 3717 | JAK2 | umls:C0032463 | BeFree | Development and inter-laboratory validation of unlabeled probe melting curve analysis for detection of JAK2 V617F mutation in polycythemia vera. | 0.666276895 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20197548 | 3717 | JAK2 | umls:C0032463 | BeFree | A somatic point mutation (V617F) in the JAK2 tyrosine kinase was found in a majority of patients with polycythemia vera (PV), essential thrombocythemia, and primary myelofibrosis. | 0.666276895 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25171702 | 3717 | JAK2 | umls:C0032463 | BeFree | Our results indicate that primary myelofibrosis JAK2 V617F and polycythemia vera JAK2 V617F share pathogenetic pathways, resulting in morphologically similar megakaryocytes. | 0.666276895 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21539404 | 3717 | JAK2 | umls:C0032463 | BeFree | Relationship between clotting activity and phosphatidylserine expression on erythrocyte membranes in polycythemia vera patients with the JAK2 V617F mutation. | 0.666276895 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22262773 | 3717 | JAK2 | umls:C0032463 | BeFree | The JAK2(V617F) mutation occurred in 27% of SP patients diagnosed according to the Polycythemia Vera Study Group or World Health Organization 2001 criteria. | 0.666276895 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22234689 | 3717 | JAK2 | umls:C0032463 | BeFree | In the present study, we used mice with a conditional null mutation in the Stat5a/b gene locus to determine the requirement for STAT5 in MPNs induced by BCR-ABL1 and JAK2(V617F) in retroviral transplantation models of CML and PV. | 0.666276895 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16210035 | 3717 | JAK2 | umls:C0032463 | BeFree | Recently, a unique and clonal mutation in the JAK homology 2 (JH2) domain of JAK2 that results in a valine to phenylalanine substitution at position 617 (V617F) was found in the majority of PV patients. | 0.666276895 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18717827 | 3717 | JAK2 | umls:C0032463 | BeFree | Although JAK2(V617F) transcript levels did not decrease upon exposure to dasatinib, the drug might suppress PV progenitors through inhibition of a yet undefined molecular target. | 0.666276895 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16239216 | 7297 | TYK2 | umls:C0032463 | BeFree | JAK1 and Tyk2 activation by the homologous polycythemia vera JAK2 V617F mutation: cross-talk with IGF1 receptor. | 0.000542884 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16325696 | 3717 | JAK2 | umls:C0032463 | BeFree | Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study. | 0.666276895 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22065597 | 3717 | JAK2 | umls:C0032463 | BeFree | The JAK2(V617F) mutation is present in the majority of patients with polycythemia vera and one-half of those with essential thrombocythemia and primary myelofibrosis. | 0.666276895 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16987804 | 3717 | JAK2 | umls:C0032463 | BeFree | We tested 22 patients with high oxygen affinity beta chain variants for the presence of the JAK2 V617F mutation that has been reported in chronic myeloproliferative disorders, particularly polycythemia vera. | 0.666276895 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18623221 | 3717 | JAK2 | umls:C0032463 | BeFree | JAK2 V617F positive polycythemia Vera in a child with neurofibromatosis type I. | 0.666276895 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21953826 | 2057 | EPOR | umls:C0032463 | BeFree | The JAK2 V617F mutation is responsible for the constitutive activation of the erythropoietin receptor signaling pathway in most cases of polycythemia vera (PV). | 0.004810009 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19497108 | 1440 | CSF3 | umls:C0032463 | BeFree | Since the V617F mutation in JAK2 may not be the initiating event in myeloprofilerative disorders (MPDs) we compared molecular changes in neutrophils from patients with polycythemia vera (PV) and essential thrombocythosis (ET), to neutrophils stimulated by G-CSF administration and to normal unstimulated neutrophils | 0.000542884 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19175693 | 3717 | JAK2 | umls:C0032463 | BeFree | It is hoped that the same will happen in other MPN with specific genetic alterations: polycythemia vera (JAK2 V617F and other JAK2 mutations), essential thrombocythemia (JAK2V617F and MPL515 mutations), primary myelofibrosis (JAK2 V617F and MPL515 mutations), systemic mastocytosis (KITD816V and other KIT mutations) and stem cell leukaemia/lymphoma (ZNF198-FGFR1 and other FGFR1 fusion genes). | 0.666276895 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20499211 | 3717 | JAK2 | umls:C0032463 | BeFree | Concomitant presence of JAK2 V617F mutation and BCR-ABL translocation in a pregnant woman with polycythemia vera. | 0.666276895 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17984312 | 3717 | JAK2 | umls:C0032463 | BeFree | Both patients with familial PV carrying an exon 12 mutation had an affected sibling with JAK2 (V617F)-positive PV. | 0.666276895 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20966521 | 3717 | JAK2 | umls:C0032463 | BeFree | JAK2 V617F mutation was found in 51 of 75 cases (68%) of CMPD, 82 per cent in PV, 70 per cent in ET and 52 per cent of IMF. | 0.666276895 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16924638 | 3717 | JAK2 | umls:C0032463 | BeFree | Early screening of suspected PV patients for JAK2(V617F) rapidly identifies nearly all those with PV without invasive or less specific conventional investigations. | 0.666276895 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21224469 | 3717 | JAK2 | umls:C0032463 | BeFree | These findings suggest that, despite the phenotypical difference, the outcome of JAK2 exon 12 mutations-positive PV is similar to that of JAK2 (V617F)-positive PV. | 0.666276895 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25040297 | 3717 | JAK2 | umls:C0032463 | BeFree | The role of serum erythropoietin level and JAK2 V617F allele burden in the diagnosis of polycythaemia vera. | 0.666276895 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20425336 | 3717 | JAK2 | umls:C0032463 | BeFree | A refined diagnostic algorithm for polycythemia vera that incorporates mutation screening for JAK2(V617F). | 0.666276895 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 24903629 | 3717 | JAK2 | umls:C0032463 | BeFree | Open-label study of oral CEP-701 (lestaurtinib) in patients with polycythaemia vera or essential thrombocythaemia with JAK2-V617F mutation. | 0.666276895 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16757685 | 3717 | JAK2 | umls:C0032463 | BeFree | Although the JAK2(V617F) mutation plays an important role in the biologic origins of PV, it is likely not the sole event leading to PV. | 0.666276895 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23926298 | 3717 | JAK2 | umls:C0032463 | BeFree | Genetic or PAD-mediated PP2A reactivation induces Jak2(V617F) inactivation/downregulation and impairs clonogenic potential of Jak2(V617F) cell lines and PV but not normal CD34(+) progenitors. | 0.666276895 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22041374 | 3717 | JAK2 | umls:C0032463 | BeFree | The activating mutation of JAK2, V617F, has been found as a frequent mutation in myeloproliferative neoplasms (MPNs), including polycythemia vera (PV), essential thrombocytosis (ET), and primary myelofibrosis (PMF). | 0.666276895 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17625606 | 3717 | JAK2 | umls:C0032463 | BeFree | We conclude that a burden of JAK2(V617F) allele greater than 75% at diagnosis points to PV patients with high-risk disease. | 0.666276895 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18508790 | 3717 | JAK2 | umls:C0032463 | BeFree | Polycythemia vera is a clonal hematopoietic stem cell disorder in which the JAK2 V617F mutation is observed in >95% of patients, but an as yet unidentified process appears to initiate the clonal expansion of hematopoiesis. | 0.666276895 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 26071474 | 5542 | PRB1 | umls:C0032463 | 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). | 0.000814326 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18781401 | 3717 | JAK2 | umls:C0032463 | 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. | 0.666276895 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16954506 | 3717 | JAK2 | umls:C0032463 | BeFree | Evidence that the JAK2 G1849T (V617F) mutation occurs in a lymphomyeloid progenitor in polycythemia vera and idiopathic myelofibrosis. | 0.666276895 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21821860 | 84765 | ZNF577 | umls:C0032463 | BeFree | Only the ZNF577 gene showed a differential methylation profile between PV JAK2 V617F positive and controls. | 0.000271442 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16373657 | 947 | CD34 | umls:C0032463 | BeFree | A JAK2 (V617F) gene dosage effect on both CD34(+) cell counts and granulocyte activation was clearly demonstrated in polycythemia vera, where abnormal patterns were mainly found in patients carrying more than 50% mutant alleles. | 0.005700279 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18084761 | 3717 | JAK2 | umls:C0032463 | BeFree | Interestingly, a significant correlation between MYC and hTERT expression could only be established in homozygous JAK2(V617F) PV and control cases. | 0.666276895 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22411871 | 2322 | FLT3 | umls:C0032463 | BeFree | JAK2(V617F) and FLT3(ITD)-positive polycythemia vera cells and acute myeloid leukemia cells also produce ROS via MRC-cIII. | 0.000271442 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18723264 | 947 | CD34 | umls:C0032463 | 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. | 0.005700279 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22333011 | 3717 | JAK2 | umls:C0032463 | BeFree | The detection rate of JAK2(V617F) was 76.2% for PV (homozygous in 14.3%), 46.9% for ET, 80% for myelofibrosis (homozygous in 20%), and 0% for the other conditions. | 0.666276895 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17979493 | 3717 | JAK2 | umls:C0032463 | BeFree | Most patients with polycythemia vera have JAK2(V617F) mutation. | 0.666276895 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16998940 | 3717 | JAK2 | umls:C0032463 | BeFree | Discordant distribution of the JAK2 (V617F) mutation was observed in siblings with polycythemia vera. | 0.666276895 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16728702 | 3717 | JAK2 | umls:C0032463 | BeFree | The JAK2-V617F mutation is frequently present at diagnosis in patients with essential thrombocythemia and polycythemia vera. | 0.666276895 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18843287 | 3717 | JAK2 | umls:C0032463 | BeFree | The JAK2 V617F mutation, present in the majority of polycythemia vera (PV) patients, causes constitutive activation of JAK2 and seems to be responsible for the PV phenotype. | 0.666276895 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25040297 | 2056 | EPO | umls:C0032463 | BeFree | The role of serum erythropoietin level and JAK2 V617F allele burden in the diagnosis of polycythaemia vera. | 0.012486326 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16197445 | 3717 | JAK2 | umls:C0032463 | BeFree | However, compared with the PRV-1 assay, mutation screening for JAK2(V617F) displayed greater accuracy in distinguishing PV from SP. | 0.666276895 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19941738 | 3717 | JAK2 | umls:C0032463 | BeFree | We found an association between JAK2 V617F and thrombotic events in patients with PV and ET. | 0.666276895 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21646683 | 3717 | JAK2 | umls:C0032463 | BeFree | Approximately 96% of patients with polycythemia vera (PV) harbors the V617F mutation in JAK2 exon 14, whereas the minority of JAK2 (V617F)-negative subjects shows several mutations in exon 12. | 0.666276895 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20013324 | 3717 | JAK2 | umls:C0032463 | BeFree | Activated STAT1 and STAT5 transcription factors in extramedullary hematopoietic tissue in a polycythemia vera patient carrying the JAK2 V617F mutation. | 0.666276895 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22234689 | 6776 | STAT5A | umls:C0032463 | BeFree | In the present study, we used mice with a conditional null mutation in the Stat5a/b gene locus to determine the requirement for STAT5 in MPNs induced by BCR-ABL1 and JAK2(V617F) in retroviral transplantation models of CML and PV. | 0.002171535 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18838204 | 3717 | JAK2 | umls:C0032463 | BeFree | Finally, the JAK2-V617F load did not influence serum apolipoprotein A-1 levels in ET, a previously validated marker of JAK2-V617F allele burden in PV. | 0.666276895 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17183644 | 3717 | JAK2 | umls:C0032463 | BeFree | The lack of thrombocytosis suggests that additional events may be required for JAK2 V617F to cause ET, but qualitative platelet abnormalities induced by JAK2 V617F may contribute to the hemostatic complications of PV. | 0.666276895 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16369984 | 3717 | JAK2 | umls:C0032463 | BeFree | The results of the current clinical study support previous laboratory observations that link JAK2(V617F) with the PV phenotype by demonstrating a mutant allele dose effect on erythrocytosis and clinical and laboratory features characteristic of PV. | 0.666276895 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18575049 | 3717 | JAK2 | umls:C0032463 | BeFree | The V617F mutation of JAK2 is the key molecular event in 90% of polycythaemia vera (PV), 50% of essential thrombocythaemia (ET) and 50% of primary myelofibrosis (PMF). | 0.666276895 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20966521 | 102606463 | LINC01152 | umls:C0032463 | BeFree | JAK2 V617F mutation was found in 51 of 75 cases (68%) of CMPD, 82 per cent in PV, 70 per cent in ET and 52 per cent of IMF. | 0.001085767 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16810614 | 3717 | JAK2 | umls:C0032463 | BeFree | The role of JAK2 V617F mutation, spontaneous erythropoiesis and megakaryocytopoiesis, hypersensitive platelets, activated leukocytes, and endothelial cells in the etiology of thrombotic manifestations in polycythemia vera and essential thrombocythemia. | 0.666276895 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21660494 | 3717 | JAK2 | umls:C0032463 | BeFree | In polycythemia vera, gender has recently been shown to influence the JAK2(V617F) allele burden, but its effect on the disease phenotype is unknown. | 0.666276895 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22102708 | 3717 | JAK2 | umls:C0032463 | BeFree | Decrease in JAK2 V617F allele burden is not a prerequisite to clinical response in patients with polycythemia vera. | 0.666276895 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21904853 | 867 | CBL | umls:C0032463 | BeFree | We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132), IDH2 (R140 and R172), and c-CBL (exons 8 and 9) in 62 MPN patients (52 essential thrombocythemia (ET), five polycythemia vera (PV), and five primary myelofibrosis (PMF)) negative for both JAK2 (V617F and exon 12) and MPL (exon 10) mutations. | 0.000814326 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21042281 | 3717 | JAK2 | umls:C0032463 | BeFree | The V617F activating mutation of janus kinase 2 (JAK2), a kinase essential for cytokine signalling, characterizes Polycythemia vera (PV), one of the myeloproliferative neoplasms (MPN). | 0.666276895 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17229651 | 3717 | JAK2 | umls:C0032463 | BeFree | Risk of thrombosis in patients with essential thrombocythemia and polycythemia vera according to JAK2 V617F mutation status. | 0.666276895 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16537803 | 3717 | JAK2 | umls:C0032463 | BeFree | To study the prevalence of the Val617Phe JAK2 mutation in familial cases of myeloproliferative disorder (MPD) and its possible implication as a predisposing genetic factor, we analyzed 72 families including 174 patients (81 polycythemia vera [PV], 68 essential thrombocythemia [ET], 11 myelofibrosis with myeloid metaplasia [MMM], 12 chronic myeloid leukemia), 1 systemic mastocytosis, and 1 chronic myelomonocytic leukemia (CMML). | 0.666276895 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 26071474 | 83886 | PRSS27 | umls:C0032463 | 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). | 0.003800186 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19815050 | 3717 | JAK2 | umls:C0032463 | BeFree | JAK2(V617F) is detected in other myeloproliferative neoplasms, does not appear to be the PV-initiating event, and its specific role in deregulated erythropoiesis in PV is incompletely understood. | 0.666276895 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17389152 | 3717 | JAK2 | umls:C0032463 | BeFree | Recently, 4 groups reported almost simultaneously Janus kinase 2 (JAK2) V617F mutation in more than 80% of PV patients, 30% of patients with ET and in about 50% of patients with idiopathic myelofibrosis. | 0.666276895 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21082983 | 3717 | JAK2 | umls:C0032463 | BeFree | Dysregulated signaling is a hallmark of chronic myeloproliferative neoplasms (MPNs), as evidenced by the identification of the activating JAK2 V617F somatic mutation in almost all patients with polycythemia vera (PV) and 50-60% of essential thrombocythemia and primary myelofibrosis patients. | 0.666276895 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16321863 | 3717 | JAK2 | umls:C0032463 | BeFree | Recently, the JAK2 V617F mutation has been reported in high proportions of chronic myeloproliferative disorders, including polycythemia vera. | 0.666276895 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 24858412 | 3717 | JAK2 | umls:C0032463 | BeFree | JAK2 V617F was detected in 31 of 51 patients (60.8%) with essential thrombocythemia, all 16 patients (100%) with polycythemia vera, 4 of 11 patients (36.4%) with primary myelofibrosis, 2 of 18 patients (11.1%) with other types of MPNs, and none of the 44 patients with doubted MPN. | 0.666276895 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16304380 | 3717 | JAK2 | umls:C0032463 | BeFree | A unique activating mutation in JAK2 (V617F) is at the origin of polycythemia vera and allows a new classification of myeloproliferative diseases. | 0.666276895 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20888389 | 3717 | JAK2 | umls:C0032463 | BeFree | These data indicate that loss of wild-type clones at the progenitor level is a feature of MF (primary MF, post-ET MF, and post-PV MF), presumably due to expansion of the JAK2 V617F clone and that this characteristic is surprisingly independent of JAK2 V617F homozygosity, suggesting that additional genomic lesions may contribute to this unique molecular process that distinguishes MF from ET and PV. | 0.666276895 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25116092 | 3717 | JAK2 | umls:C0032463 | BeFree | JAK2/MPL wild-type, CALR mutated hypercellular ET associated with PMGM is featured by dense clustered large immature dysmorphic megakaryocytes and bulky (cloud-like) hyperchromatic nuclei, which are never seen in WHO-ECMP-defined JAK2(V617F) mutated ET, EMGM and PV, and neither in JAK2 wild-type ET carrying the MPL(515) mutation. | 0.666276895 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18632151 | 3717 | JAK2 | umls:C0032463 | BeFree | JAK2 V617F positivity in patients with ET was associated with a clear increase in the odds of thrombosis [OR=1.83 (95% CI, 1.32-2.53), p<0.0001], and much higher odds of transformation to polycythemia vera [OR=7.67 (95% CI, 2.04-28.87), p=0.0009]. | 0.666276895 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20551270 | 3717 | JAK2 | umls:C0032463 | BeFree | The JAK2(V617F)mutation is recurrent in polycythemia vera and essential thrombocythemia, which are myeloproliferative neoplasms frequently associated with arterial and venous thromboembolism. | 0.666276895 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16912229 | 3717 | JAK2 | umls:C0032463 | BeFree | An activating JAK2 mutation (JAK2 V617F) is present in the chronic myeloproliferative disorders (MPDs), polycythemia vera (PV), idiopathic myelofibrosis (IMF), and essential thrombocytosis (ET). | 0.666276895 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23926298 | 5524 | PPP2R4 | umls:C0032463 | BeFree | Genetic or PAD-mediated PP2A reactivation induces Jak2(V617F) inactivation/downregulation and impairs clonogenic potential of Jak2(V617F) cell lines and PV but not normal CD34(+) progenitors. | 0.000271442 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17198871 | 3717 | JAK2 | umls:C0032463 | BeFree | We conclude that development of therapeutic strategies that target the JAK2(V617F) clonal cells may not be sufficient for eradication of PV. | 0.666276895 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18059484 | 3717 | JAK2 | umls:C0032463 | BeFree | HLA-G turns off erythropoietin receptor signaling through JAK2 and JAK2 V617F dephosphorylation: clinical relevance in polycythemia vera. | 0.666276895 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23542632 | 3717 | JAK2 | umls:C0032463 | BeFree | A short TL correlated with JAK2-V617F allele burden greater than 50% (p = 0.0025), age (p = 0.0132) and diagnosis of PV (p = 0.0122). | 0.666276895 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18048969 | 3717 | JAK2 | umls:C0032463 | BeFree | The recently identified JAK2(V617F) mutation is frequently present in the classic CMPDs polycythemia vera, essential thrombocythemia, and chronic idiopathic myelofibrosis. | 0.666276895 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18059484 | 2057 | EPOR | umls:C0032463 | BeFree | HLA-G turns off erythropoietin receptor signaling through JAK2 and JAK2 V617F dephosphorylation: clinical relevance in polycythemia vera. | 0.004810009 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 24786775 | 3717 | JAK2 | umls:C0032463 | BeFree | Our understanding of the genetic basis of myeloproliferative neoplasms began in 2005, when the JAK2 (V617F) mutation was identified in polycythemia vera, essential thrombocythemia, and primary myelofibrosis. | 0.666276895 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 24463275 | 3717 | JAK2 | umls:C0032463 | BeFree | Only tumor necrosis factor-α and platelet derived growth factor-BB were specifically impacted by the JAK2 V617F status of the PV and ET patients, respectively, suggesting that there are both JAK2 V617F-driven and JAK2 V617F-independent inflammatory responses in MPNs. | 0.666276895 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20425336 | 2056 | EPO | umls:C0032463 | BeFree | Therefore, a contemporary approach to the diagnosis of polycythemia vera starts with peripheral blood mutation screening for JAK2(V617F) as well as measurement of serum erythropoietin. | 0.012486326 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18195094 | 3717 | JAK2 | umls:C0032463 | BeFree | We studied the lineage distribution of JAK2 mutations in peripheral blood of 8 polycythemia vera (PV) patients with exon 12 mutations and in 21 PV patients with JAK2-V617F. | 0.666276895 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25023898 | 3717 | JAK2 | umls:C0032463 | BeFree | JAK2 V617F was detected in 140 samples (66 PV, 45 ET and 29 PMF). | 0.666276895 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20560681 | 3717 | JAK2 | umls:C0032463 | BeFree | Reliable detection of the JAK2 V617F mutation is a major criterion in the diagnosis of BCR/ABL-negative myeloproliferative neoplasms such as polycythemia vera, essential thrombocythemia, and primary myelofibrosis. | 0.666276895 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17145859 | 3717 | JAK2 | umls:C0032463 | 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. | 0.666276895 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16741247 | 3717 | JAK2 | umls:C0032463 | BeFree | The detection rate of JAK2 V617F mutants for polycythemia vera, chronic idiopathic myelofibrosis, and essential thrombocythemia (n = 103) was similar to the previously reported results. | 0.666276895 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22818858 | 3717 | JAK2 | umls:C0032463 | BeFree | Eleven JAK2(V617F) mutated patients developed 13 deep splanchnic thromboses in PV and ET. | 0.666276895 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22611155 | 3717 | JAK2 | umls:C0032463 | BeFree | Correlations are emerging between leukocytosis, JAK2(V617F) mutation, BM fibrosis, and different outcomes of PV, which need to be confirmed in prospective studies. | 0.666276895 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17976517 | 3717 | JAK2 | umls:C0032463 | BeFree | An activating somatic mutation of Janus kinase 2 V617F (JAK2V617F) is present in most polycythemia vera (PV) patients. | 0.666276895 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25116092 | 2056 | EPO | umls:C0032463 | BeFree | Half of PVSG/WHO-defined ET patients show low serum erythropoietin levels and carry the JAK2(V617F) mutation, indicating prodromal PV. | 0.012486326 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18528646 | 3717 | JAK2 | umls:C0032463 | BeFree | JAK2 V617F mutation is rare in idiopathic erythrocytosis: a difference from polycythemia vera. | 0.666276895 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21904853 | 171023 | ASXL1 | umls:C0032463 | BeFree | We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132), IDH2 (R140 and R172), and c-CBL (exons 8 and 9) in 62 MPN patients (52 essential thrombocythemia (ET), five polycythemia vera (PV), and five primary myelofibrosis (PMF)) negative for both JAK2 (V617F and exon 12) and MPL (exon 10) mutations. | 0.002171535 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16210033 | 3717 | JAK2 | umls:C0032463 | BeFree | A point mutation in the Janus kinase 2 exchanging a valine for a phenylalanine at position 617 (JAK2 V617F) was found in 65% to 97% of polycythemia vera (PV) patients, as well as in approximately 50% of essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF) patients. | 0.666276895 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21790864 | 3717 | JAK2 | umls:C0032463 | BeFree | We present here a 56-year-old woman with PV harboring a JAK2(V617F) mutation that had a diffuse reticulonodular pattern on chest radiography and was initially suspected of having military tuberculosis. | 0.666276895 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18769448 | 3717 | JAK2 | umls:C0032463 | BeFree | The BCR-ABL-negative myeloproliferative neoplasms (MPNs), polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF), entered the spotlight in 2005 when the unique somatic acquired JAK2 V617F mutation was described in >95% of PV and in 50% of ET and PMF patients. | 0.666276895 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 26235214 | 3717 | JAK2 | umls:C0032463 | BeFree | In addition, a patient with polycythemia vera diagnosed as being JAK2 V617F-negative by unlabeled probe melting curve analysis was found to be positive by the microchip. | 0.666276895 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18616871 | 2056 | EPO | umls:C0032463 | BeFree | As compared to their JAK2 V617F negative counterparts, the JAK2 V617F positive patients had PV-like biochemical characteristics such as higher haemoglobin levels (p=0.02), lower platelet counts (p=0.002) and lower plasma EPO levels (p=0.04). | 0.012486326 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19468275 | 3717 | JAK2 | umls:C0032463 | BeFree | Treating low-risk essential thrombocythemia and polycythemia vera patients presenting with leukocytosis or JAK2 V617F mutation in order to prevent thrombosis deserves a prospective validation. | 0.666276895 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19657484 | 3717 | JAK2 | umls:C0032463 | BeFree | The JAK2(V617F) mutation is present in the majority of patients with polycythaemia vera and in approximately half of patients with essential thrombocythaemia and primary myelofibrosis. | 0.666276895 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20560681 | 25 | ABL1 | umls:C0032463 | BeFree | Reliable detection of the JAK2 V617F mutation is a major criterion in the diagnosis of BCR/ABL-negative myeloproliferative neoplasms such as polycythemia vera, essential thrombocythemia, and primary myelofibrosis. | 0.008696071 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25162887 | 3717 | JAK2 | umls:C0032463 | BeFree | Removing sex as a potential confounder, we identified an accurate molecular method for classifying patients with polycythemia vera according to disease behavior, independently of their JAK2 V617F allele burden, and identified previously unrecognized molecular pathways in polycythemia vera outside the canonical JAK2 pathway that may be amenable to targeted therapy. | 0.666276895 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21904853 | 4352 | MPL | umls:C0032463 | BeFree | We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132), IDH2 (R140 and R172), and c-CBL (exons 8 and 9) in 62 MPN patients (52 essential thrombocythemia (ET), five polycythemia vera (PV), and five primary myelofibrosis (PMF)) negative for both JAK2 (V617F and exon 12) and MPL (exon 10) mutations. | 0.146175429 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20205617 | 3717 | JAK2 | umls:C0032463 | BeFree | A somatic mutation (V617F) resulting in enhanced JAK2 kinase activity can be frequently found in patients with serious myeloproliferative neoplasms such as polycythemia vera, essential thrombocythemia and primary myelofibrosis. | 0.666276895 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21904853 | 54790 | TET2 | umls:C0032463 | BeFree | We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132), IDH2 (R140 and R172), and c-CBL (exons 8 and 9) in 62 MPN patients (52 essential thrombocythemia (ET), five polycythemia vera (PV), and five primary myelofibrosis (PMF)) negative for both JAK2 (V617F and exon 12) and MPL (exon 10) mutations. | 0.127991366 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25968903 | 3717 | JAK2 | umls:C0032463 | BeFree | The 2005 JAK2 V617F discovery and the 2008 WHO diagnostic guideline for the JAK2 V617F mutation coincide with a 31 % increase in ET and a 21 % decrease in PV incidence rates. | 0.666276895 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 15781101 | 3717 | JAK2 | umls:C0032463 | BeFree | A single point mutation (Val617Phe) was identified in JAK2 in 71 (97%) of 73 patients with polycythaemia vera, 29 (57%) of 51 with essential thrombocythaemia, and eight (50%) of 16 with idiopathic myelofibrosis. | 0.666276895 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16781479 | 3717 | JAK2 | umls:C0032463 | BeFree | The evolving evidence that JAK2 V617F is not specific for polycythemia vera pathogenesis and the development of disease phenotype is presented as well as alternative candidates for pathogenic mutations such as the protein tyrosine phosphatases and SOCS-3. | 0.666276895 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18616871 | 7076 | TIMP1 | umls:C0032463 | BeFree | As compared to their JAK2 V617F negative counterparts, the JAK2 V617F positive patients had PV-like biochemical characteristics such as higher haemoglobin levels (p=0.02), lower platelet counts (p=0.002) and lower plasma EPO levels (p=0.04). | 0.000814326 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19939582 | 3717 | JAK2 | umls:C0032463 | BeFree | The V617F JAK2 mutation incidence in polycythemia vera, essential thrombocythemia and idiopathic myelofibrosis are respectively 89.47%, 62.5% and 33.33%. | 0.666276895 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23209034 | 3717 | JAK2 | umls:C0032463 | BeFree | The discovery of the Janus kinase 2 (JAK2) V617F mutation has improved our understanding of the pathophysiology of myeloproliferative neoplasms such as polycythemia vera, essential thrombocythemia, and primary myelofibrosis. | 0.666276895 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23111067 | 3717 | JAK2 | umls:C0032463 | BeFree | We also verified the effect of the same drugs in colony assays of freshly isolated Jak2(V617F) polycythemia vera cells. | 0.666276895 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17213018 | 3717 | JAK2 | umls:C0032463 | BeFree | The V617F mutation in the JAK2 gene on chromosome 9p24.1 was identified recently in peripheral blood leukocytes in the majority of patients with PV and in approximately half of patients with essential thrombocythemia and idiopathic myelofibrosis. | 0.666276895 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23469088 | 3717 | JAK2 | umls:C0032463 | BeFree | Lastly, JAK2 V617F mutant allele burden was found much higher in polycythemia vera (PV) patients [median(P25-P75): 45.02%(35.12%-54.22%)] than in essential thrombocythemia (ET) patients [median(P25-P75): 28.23%(17.77%-41.66%)], and that it increased with WBC counts (r = 0.393, p = 0.000) and RBC counts(r = 0.215, p = 0.001), other than platelet counts (r = -0.051, p = 0.452). | 0.666276895 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17131059 | 3717 | JAK2 | umls:C0032463 | BeFree | We pay particular attention to the newly identified JAK2 V617F mutation in polycythaemia vera, essential thrombocythaemia and idiopathic myelofibrosis and deal with disease heterogeneity and putative additional molecular mechanisms. | 0.666276895 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20528738 | 3717 | JAK2 | umls:C0032463 | BeFree | Altered signaling is a hallmark of myeloproliferative neoplasms, as demonstrated by the presence of activating JAK2 (V617F) mutation in about 70% of patients (95% of polycythemia vera, 50%-60% of essential thrombocythemia, and 50%-60% of primary myelofibrosis). | 0.666276895 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16709929 | 3717 | JAK2 | umls:C0032463 | BeFree | V617F JAK2 mutation is a reliable molecular marker of polycythemia vera (PV), potentially useful to monitor the effect of treatments in this disease. | 0.666276895 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20631743 | 3717 | JAK2 | umls:C0032463 | BeFree | A prospective study of 338 patients with polycythemia vera: the impact of JAK2 (V617F) allele burden and leukocytosis on fibrotic or leukemic disease transformation and vascular complications. | 0.666276895 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17439832 | 3717 | JAK2 | umls:C0032463 | BeFree | Catastrophic intra-abdominal thrombosis can result from a variety of prothrombotic states, including polycythemia vera and essential thrombocythemia, both of which are frequently associated with an acquired mutation (V617F) in the JAK2 gene. | 0.666276895 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16225651 | 3717 | JAK2 | umls:C0032463 | BeFree | In conclusion, JAK2(V617F) is a myeloid lineage-specific event, its incidence in MMM is significantly higher with an antecedent history of polycythaemia vera (PV), and its presence in AMM does not affect prognosis but is associated with PV-characteristic clinical features. | 0.666276895 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22234689 | 25 | ABL1 | umls:C0032463 | BeFree | In the present study, we used mice with a conditional null mutation in the Stat5a/b gene locus to determine the requirement for STAT5 in MPNs induced by BCR-ABL1 and JAK2(V617F) in retroviral transplantation models of CML and PV. | 0.008696071 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25278584 | 3717 | JAK2 | umls:C0032463 | BeFree | Polycythemia vera (PV) is a chronic myeloproliferative neoplasm associated with JAK2 mutations (V617F or exon 12) in almost all cases. | 0.666276895 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17059429 | 4597 | MVD | umls:C0032463 | BeFree | After a median follow-up of 41 months (range 3-114 months), three out of the 10 patients carrying the JAK2 V617F mutation were then diagnosed as having idiopathic myelofibrosis (n = 2) or polycythemia vera (n = 1), whereas in seven patients a MPD was not detected. | 0.002171535 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17194663 | 3717 | JAK2 | umls:C0032463 | 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. | 0.666276895 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20306156 | 3717 | JAK2 | umls:C0032463 | BeFree | Recently, Janus kinase-2 (JAK2) V617F mutation has an important role in the diagnosis of myeloproliferative disorders, especially in polycythemia vera (PV). | 0.666276895 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25189723 | 811 | CALR | umls:C0032463 | BeFree | Molecular profiling must include the analysis of JAK2 (looking for the V617F point-mutation in PV and ET, screening exon 12 for mutations only in V617F-negative PV), CALR and MPL mutations (both in V617F-negative ET). | 0.001628651 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17852451 | 3717 | JAK2 | umls:C0032463 | BeFree | These preliminary observations indicate that the Jak2(V617F) mutation in particular and PRV-1 overexpression appear to be suitable markers for monitoring treatment efficiency in prospective randomised clinical studies comparing pegylated interferon and hydroxyurea in well defined PV patients with a clear indication for cytoreductive therapy. | 0.666276895 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22304488 | 3717 | JAK2 | umls:C0032463 | BeFree | 88% (46/52) of the patients with PV, 47% (39/81) with ET, and 77% (8/11) with PMF were positive for JAK2 V617F, while more than 35% of the individuals were JAK2 V617F-negative, confirming a high prevalence of this abnormality in MPNs, more frequently with a low mutated allele burden, similar to what has been reported in other Western countries, despite differences among methods used to detect this mutation. | 0.666276895 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19500139 | 3717 | JAK2 | umls:C0032463 | BeFree | The screening for JAK2 V617F mutation in patients with polycythemia vera, essential thrombocythemia, and idiopathic myelofibrosis offers crucial information for the final diagnosis of these disorders. | 0.666276895 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21512135 | 3717 | JAK2 | umls:C0032463 | BeFree | Treatment with atiprimod, a potent JAK2 inhibitor, caused marked growth inhibition and apoptosis of human (SET-2) and mouse (FDCP-EpoR) JAK2(V617F)-positive cells as well as primary blood or bone marrow mononuclear cells from patients with polycythemia vera; however, these effects were attenuated when any of these cell types were cocultured (cell-on-cell) with human marrow stromal cell lines (e.g., HS5, NK.tert, TM-R1). | 0.666276895 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17178722 | 3717 | JAK2 | umls:C0032463 | BeFree | These data suggest that erlotinib may be used for treatment of JAK2(V617F)-positive PV and other myeloproliferative disorders. | 0.666276895 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16239216 | 3717 | JAK2 | umls:C0032463 | BeFree | JAK1 and Tyk2 activation by the homologous polycythemia vera JAK2 V617F mutation: cross-talk with IGF1 receptor. | 0.666276895 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17875526 | 3717 | JAK2 | umls:C0032463 | BeFree | JAK2 V617F was found in 38 (64%) of ET cases, 7 (39%) of CIMF cases, and 9 (100%) of PV cases. | 0.666276895 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22555824 | 3717 | JAK2 | umls:C0032463 | BeFree | The frequency of the JAK2 (V617F) mutation varied between the MPD subtypes, with the mutation being most frequent in PV (95.8%) and 39% showed homozygous mutant allele. | 0.666276895 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23807288 | 3717 | JAK2 | umls:C0032463 | BeFree | However it is not so easy, because iPSCs from hematological malignancies have been established only from myeloproliferative neoplasms including chronic myelogenous leukemia (CML) and JAK2-V617F mutation-positive polycythemia vera (PV). | 0.666276895 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18616871 | 8288 | EPX | umls:C0032463 | BeFree | As compared to their JAK2 V617F negative counterparts, the JAK2 V617F positive patients had PV-like biochemical characteristics such as higher haemoglobin levels (p=0.02), lower platelet counts (p=0.002) and lower plasma EPO levels (p=0.04). | 0.000814326 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 24811089 | 3717 | JAK2 | umls:C0032463 | BeFree | JAK2 V617F mutation frequencies in our PV and ET patients were similar to those reported previously. | 0.666276895 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16827884 | 3717 | JAK2 | umls:C0032463 | BeFree | All four samples were positive for JAK2 V617F, confirming the presence of a clonal hematopoietic disorder consistent with PV. | 0.666276895 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16603627 | 3717 | JAK2 | umls:C0032463 | BeFree | The JAK2 V617F mutation occurs in hematopoietic stem cells in polycythemia vera and predisposes toward erythroid differentiation. | 0.666276895 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18079739 | 3717 | JAK2 | umls:C0032463 | BeFree | We investigated the activity of ITF2357, a novel histone deacetylase inhibitor (HDACi) with antitumor activity, on cells carrying the JAK2(V617F) mutation obtained from polycythemia vera (PV) and essential thrombocythemia (ET) patients as well as the HEL cell line. | 0.666276895 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21821860 | 3717 | JAK2 | umls:C0032463 | BeFree | Only the ZNF577 gene showed a differential methylation profile between PV JAK2 V617F positive and controls. | 0.666276895 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18059484 | 3135 | HLA-G | umls:C0032463 | BeFree | HLA-G turns off erythropoietin receptor signaling through JAK2 and JAK2 V617F dephosphorylation: clinical relevance in polycythemia vera. | 0.000271442 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17587878 | 3717 | JAK2 | umls:C0032463 | BeFree | Indeed the mutation mediates a PV-like phenotype but with regard to myelofibrosis JAK2(V617F) does not appear to be a causative factor. | 0.666276895 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22796437 | 3717 | JAK2 | umls:C0032463 | BeFree | We recently developed a Janus kinase 2 (Jak2) small molecule inhibitor called G6 and found that it exhibits marked efficacy in a xenograft model of Jak2-V617F-mediated hyperplasia and a transgenic mouse model of Jak2-V617F-mediated polycythemia vera/essential thrombocytosis. | 0.666276895 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20587663 | 3717 | JAK2 | umls:C0032463 | BeFree | Strikingly, the JAK2(V617F) mutation is found in nearly all patients suffering from polycythemia vera and in roughly every second patient suffering from essential thrombocythemia and primary myelofibrosis. | 0.666276895 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 24475114 | 3717 | JAK2 | umls:C0032463 | BeFree | Most cases of BCR-ABL1-negative myeloproliferative neoplasms (MPNs), essential thrombocythemia, polycythemia vera and primary myelofibrosis are associated with JAK2 (V617F) mutations. | 0.666276895 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16239216 | 3716 | JAK1 | umls:C0032463 | BeFree | JAK1 and Tyk2 activation by the homologous polycythemia vera JAK2 V617F mutation: cross-talk with IGF1 receptor. | 0.005276948 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23116358 | 3717 | JAK2 | umls:C0032463 | BeFree | The JAK2 V617F somatic mutation is present in the majority of patients with myeloproliferative cancer (polycythaemia vera, essential thrombocytosis, and primary myelofibrosis). | 0.666276895 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20472827 | 3717 | JAK2 | umls:C0032463 | BeFree | In conclusion, constitutive heterozygous expression of JAK2(V617F) in mice is not embryo-lethal but results in severe PV-like disease with secondary myelofibrosis and not in ET-like disease as expected from patient study. | 0.666276895 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22234689 | 613 | BCR | umls:C0032463 | BeFree | In the present study, we used mice with a conditional null mutation in the Stat5a/b gene locus to determine the requirement for STAT5 in MPNs induced by BCR-ABL1 and JAK2(V617F) in retroviral transplantation models of CML and PV. | 0.003810118 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19843380 | 25 | ABL1 | umls:C0032463 | BeFree | In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation and the MPL W515K mutation; 17 patients with essential thrombocythemia (ET), eight with polycythemia vera (PV), four with primary mielofibrosis (MF), five with undifferentiated MPN, one with primary erythrocytosis and one with familial thrombocytosis. | 0.008696071 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17454193 | 3717 | JAK2 | umls:C0032463 | BeFree | The Janus kinase 2 (JAK2) V617F mutation was present in 34 (85.3%) PV, 2 (50%) IE, 1 (50%) apparent and no secondary erythrocytosis cases. | 0.666276895 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23430670 | 3717 | JAK2 | umls:C0032463 | BeFree | The MPNs include polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF), most of which are characterized by a somatic point mutation, V617F, in the janus kinase 2 (JAK2) gene. | 0.666276895 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21953826 | 3717 | JAK2 | umls:C0032463 | BeFree | The JAK2 V617F mutation is responsible for the constitutive activation of the erythropoietin receptor signaling pathway in most cases of polycythemia vera (PV). | 0.666276895 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001890 | Autoimmune hemolytic anemia | MP:0001577 | anemia;HP:0005550 | Chronic lymphatic leukemia |
Mapped by homologous gene(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001894 | Thrombocytosis | MP:0009625 | abnormal abdominal lymph node morphology;HP:0002639 | Budd-Chiari syndrome |
Chemical(Total Drugs:5) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0032463 | anagrelide | C021139 | - | polycythemia vera | MESH:D011087 | therapeutic | 11034048 | ||
| C0032463 | busulfan | D002066 | 55-98-1 | polycythemia vera | MESH:D011087 | therapeutic | 4691200 | ||
| C0032463 | dasatinib | D000069439 | - | polycythemia vera | MESH:D011087 | therapeutic | 18717827 | ||
| C0032463 | hydroxyurea | D006918 | 127-07-1 | polycythemia vera | MESH:D011087 | therapeutic | 12459535 | ||
| C0032463 | pipobroman | D010885 | 54-91-1 | polycythemia vera | MESH:D011087 | therapeutic | 10342591 | ||
FDA approved drug and dosage information(Total Drugs:1) | ||||||||
|---|---|---|---|---|---|---|---|---|
| DiseaseID | Drug_name | active_ingredients | strength | Dosage Form/Route | Marketing Status | TE code | RLD | RS |
| MESH:D011087 | busulfex | busulfan | 6MG/ML | INJECTABLE;INJECTION | Prescription | AP | Yes | Yes |
FDA labeling changes(Total Drugs:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DiseaseID | Pediatric_Labeling_Date | Trade_Name | Generic_Name_or_Proper_Name | Indications Studied | Label Changes Summary | Product Labeling | BPCA(B) | PREA(P) | BPCA(B) and PREA(P) | Pediatric Rule (R) | Sponsor | Pediatric Exclusivity Granted Date | NNPS |
| MESH:D011087 | 01/13/2003 | busulfex | busulfan | Part of a conditioning regimen administered prior to hematopoietic progenitor cell transplantation for a variety of malignant hematologic or non-malignant diseases | The population pharmacokinetic estimates of busulfan for clearance and volume of distribution were determined in an open-label, uncontrolled PK study in 24 pediatric patients 5 months to 16 years who received busulfan as part of a conditioning regimen administered prior to hematopoietic progenitor cell transplantation for a variety of malignant hematologic or non-malignant diseases Suggested dosing regimen | Labeling | B | - | - | - | Orphan Medical | 12/3/2002 | FALSE' |