eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| myelofibrosis | ||||
| Disease ID | 147 |
|---|---|
| Disease | myelofibrosis |
| Definition | A de novo myeloproliferation arising from an abnormal stem cell. It is characterized by the replacement of bone marrow by fibrous tissue, a process that is mediated by CYTOKINES arising from the abnormal clone. |
| Synonym | [m]myelosclerosis with myeloid metaplasia agnogenic myeloid metaplasia agnogenic myeloid metaplasias aleukemic myelosis amm bone marrow fibroses bone marrow fibrosis chronic idiopathic myelofibrosis cimf fibroses, bone marrow fibrosis, bone marrow idiopathic bone marrow fibrosis idiopathic myelofibrosis idiopathic myelofibrosis (chronic) metaplasia myelofibrosis myeloid metaplasia, agnogenic myeloid metaplasia, myeloid metaplasias, agnogenic myeloid metaplasias, myeloid mos myelofi w myelo metaplas myelofibroses myelofibroses, primary myelofibrosis and myeloid metaplasia myelofibrosis as a result of myeloproliferative disease myelofibrosis idiopathic myelofibrosis primary myelofibrosis with myeloid metaplasia myelofibrosis, primary myeloid metaplasia myeloid metaplasia myeloid metaplasia primary myelofibrosis myeloid metaplasia, agnogenic myeloid metaplasias myeloid metaplasias, agnogenic myeloscleroses myelosclerosis myelosclerosis with myeloid metaplasia myelosclerosis with myeloid metaplasia (disorder) myelosclerosis with myeloid metaplasia (morphologic abnormality) myelosclerosis with myeloid metaplasia -retired- myeloses, nonleukemic myelosis non-leukemic myelosis nonleukemic myelosis, aleukemic myelosis, nonleukemic nonleukemic myeloses nonleukemic myelosis primary myelofibroses primary myelofibrosis primary myelofibrosis [disease/finding] |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0001815 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:75) C0001815 | myelofibrosis | 12 C0001815 | myeloid metaplasia | 9 C0026986 | myelodysplastic syndrome | 9 C0023418 | leukemia | 7 C0026986 | myelodysplastic syndromes | 6 C0836924 | thrombocythemia | 5 C0032463 | polycythemia vera | 5 C0001815 | myelofibrosis with myeloid metaplasia | 4 C0040028 | essential thrombocythemia | 4 C0032461 | polycythemia | 4 C0029464 | osteosclerosis | 4 C0002871 | anemia | 4 C0020538 | hypertension | 4 C0020541 | portal hypertension | 3 C0024141 | systemic lupus erythematosus | 3 C0409974 | lupus erythematosus | 3 C0042870 | vitamin d deficiency | 3 C0023467 | acute myeloid leukemia | 3 C0027022 | myeloproliferative neoplasms | 3 C0042870 | vitamin d defic | 3 C0026764 | myeloma | 2 C0001815 | chronic idiopathic myelofibrosis | 2 C0001815 | primary myelofibrosis | 2 C0027022 | myeloproliferative disease | 2 C0023470 | myeloid leukemia | 2 C0023418 | leukaemia | 2 C0001815 | idiopathic myelofibrosis | 2 C0030312 | pancytopenia | 2 C0006142 | breast cancer | 2 C0020542 | pulmonary hypertension | 2 C0024299 | lymphoma | 2 C0085652 | pyoderma gangrenosum | 1 C0042974 | von willebrand's disease | 1 C0026764 | multiple myeloma | 1 C0019154 | hepatic vein thrombosis | 1 C0020428 | hyperaldosteronism | 1 C0034150 | purpura | 1 C0007134 | renal cell carcinoma | 1 C0002312 | hemoglobin h disease | 1 C0023473 | chronic myelocytic leukemia | 1 C0026985 | myelodysplasia | 1 C0031154 | peritonitis | 1 C0040034 | thrombocytopenia | 1 C0017668 | focal segmental glomerulosclerosis | 1 C1368107 | bone marrow aplasia | 1 C0023470 | myelocytic leukemia | 1 C0040053 | thrombosis | 1 C0015230 | rash | 1 C0079774 | peripheral t-cell lymphoma | 1 C0035222 | acute respiratory distress syndrome | 1 C0041956 | ureteral obstruction | 1 C0029411 | pachydermoperiostosis | 1 C0023448 | lymphocytic leukemia | 1 C0030312 | bone marrow failure | 1 C0023487 | acute promyelocytic leukemia | 1 C0024115 | lung disease | 1 C0024314 | lymphoproliferative disorder | 1 C0020437 | hypercalcemia | 1 C0023434 | chronic lymphocytic leukemia | 1 C0042769 | virus infection | 1 C0002871 | anaemia | 1 C0019829 | hodgkin's lymphoma | 1 C0001815 | bone marrow fibrosis | 1 C0035579 | rickets | 1 C0282193 | iron overload | 1 C0028754 | obesity | 1 C0178664 | glomerulosclerosis | 1 C0023487 | promyelocytic leukemia | 1 C0034155 | thrombotic thrombocytopenic purpura | 1 C0029411 | primary hypertrophic osteoarthropathy | 1 C1704437 | respiratory distress syndrome | 1 C0034212 | pyoderma | 1 C0024305 | non-hodgkin's lymphoma | 1 C0206062 | interstitial lung disease | 1 C0019069 | hemophilia | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:8) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:117) 25 | ABL1 | 5.184 | DISEASES 5926 | ARID4A | 1.181 | DISEASES 171023 | ASXL1 | 5.419 | DISEASES 9776 | ATG13 | 1.187 | DISEASES 10018 | BCL2L11 | 1.127 | DISEASES 664 | BNIP3 | 1.293 | DISEASES 93589 | CACNA2D4 | 1.237 | DISEASES 801 | CALM1 | 1.475 | DISEASES 811 | CALR | 6.503 | DISEASES 57126 | CD177 | 3.883 | DISEASES 930 | CD19 | 2.163 | DISEASES 959 | CD40LG | 1.252 | DISEASES 1050 | CEBPA | 1.101 | DISEASES 26097 | CHTOP | 2.022 | DISEASES 1154 | CISH | 1.628 | DISEASES 1435 | CSF1 | 1.797 | DISEASES 1441 | CSF3R | 2.682 | DISEASES 6387 | CXCL12 | 2.042 | DISEASES 7852 | CXCR4 | 2.489 | DISEASES 8813 | DPM1 | 6.103 | DISEASES 56478 | EIF4ENIF1 | 1.418 | DISEASES 284361 | EMC10 | 1.908 | DISEASES 2120 | ETV6 | 1.982 | DISEASES 2145 | EZH1 | 1.41 | DISEASES 55179 | FAIM | 1.723 | DISEASES 100302740 | FAS-AS1 | 3.246 | DISEASES 2214 | FCGR3A | 1.507 | DISEASES 2257 | FGF12 | 1.306 | DISEASES 2260 | FGFR1 | 2.643 | DISEASES 11116 | FGFR1OP | 1.638 | DISEASES 2268 | FGR | 1.148 | DISEASES 81608 | FIP1L1 | 3.635 | DISEASES 2289 | FKBP5 | 1.959 | DISEASES 2298 | FOXD4 | 1.887 | DISEASES 53827 | FXYD5 | 2.611 | DISEASES 2617 | GARS | 2.09 | DISEASES 2623 | GATA1 | 4.146 | DISEASES 2624 | GATA2 | 1.491 | DISEASES 2811 | GP1BA | 2.596 | DISEASES 493869 | GPX8 | 1.957 | DISEASES 2993 | GYPA | 1.153 | DISEASES 8091 | HMGA2 | 2.68 | DISEASES 3149 | HMGB3 | 1.413 | DISEASES 3320 | HSP90AA1 | 1.046 | DISEASES 3418 | IDH2 | 3.609 | DISEASES 3440 | IFNA2 | 3.01 | DISEASES 10320 | IKZF1 | 2.229 | DISEASES 3559 | IL2RA | 1.395 | DISEASES 3612 | IMPA1 | 1.851 | DISEASES 3684 | ITGAM | 1.588 | DISEASES 3716 | JAK1 | 6.129 | DISEASES 3717 | JAK2 | 7.979 | DISEASES 3718 | JAK3 | 3.186 | DISEASES 3720 | JARID2 | 2.518 | DISEASES 3767 | KCNJ11 | 2.286 | DISEASES 8284 | KDM5D | 2.195 | DISEASES 81562 | LMAN2L | 1.165 | DISEASES 4017 | LOXL2 | 1.134 | DISEASES 987 | LRBA | 1.413 | DISEASES 84930 | MASTL | 1.155 | DISEASES 4170 | MCL1 | 1.103 | DISEASES 57591 | MKL1 | 1.056 | DISEASES 4300 | MLLT3 | 1.647 | DISEASES 4352 | MPL | 5.502 | DISEASES 2475 | MTOR | 1.636 | DISEASES 23218 | NBEAL2 | 4.177 | DISEASES 4781 | NFIB | 1.326 | DISEASES 4893 | NRAS | 2.219 | DISEASES 80228 | ORAI2 | 1.452 | DISEASES 93129 | ORAI3 | 1.256 | DISEASES 5108 | PCM1 | 1.194 | DISEASES 9659 | PDE4DIP | 1.476 | DISEASES 5154 | PDGFA | 2.355 | DISEASES 5155 | PDGFB | 1.35 | DISEASES 5236 | PGM1 | 1.509 | DISEASES 64219 | PJA1 | 1.998 | DISEASES 9867 | PJA2 | 2.166 | DISEASES 5367 | PMCH | 1.297 | DISEASES 5542 | PRB1 | 1.978 | DISEASES 442865 | PRYP3 | 1.756 | DISEASES 5688 | PSMA7 | 1.475 | DISEASES 5781 | PTPN11 | 1.402 | DISEASES 5788 | PTPRC | 1.846 | DISEASES 55278 | QRSL1 | 1.289 | DISEASES 22821 | RASA3 | 1.733 | DISEASES 64783 | RBM15 | 1.52 | DISEASES 6049 | RNF6 | 2.043 | DISEASES 23513 | SCRIB | 1.083 | DISEASES 29072 | SETD2 | 2.474 | DISEASES 166929 | SGMS2 | 1.502 | DISEASES 10019 | SH2B3 | 3.998 | DISEASES 83650 | SLC35G5 | 2.195 | DISEASES 8651 | SOCS1 | 1.441 | DISEASES 8835 | SOCS2 | 1.5 | DISEASES 9021 | SOCS3 | 1.591 | DISEASES 6693 | SPN | 1.713 | DISEASES 6427 | SRSF2 | 4.684 | DISEASES 23635 | SSBP2 | 1.276 | DISEASES 6772 | STAT1 | 1.192 | DISEASES 6776 | STAT5A | 4.213 | DISEASES 255061 | TAC4 | 1.411 | DISEASES 54790 | TET2 | 5.283 | DISEASES 7018 | TF | 1.908 | DISEASES 7056 | THBD | 1.004 | DISEASES 8563 | THOC5 | 1.708 | DISEASES 55504 | TNFRSF19 | 1.12 | DISEASES 7409 | VAV1 | 1.403 | DISEASES 7422 | VEGFA | 2.073 | DISEASES 63894 | VIPAS39 | 1.397 | DISEASES 11311 | VPS45 | 3.751 | DISEASES 23038 | WDTC1 | 1.726 | DISEASES 7490 | WT1 | 1.322 | DISEASES 51352 | WT1-AS | 1.256 | DISEASES 643836 | ZFP62 | 2.282 | DISEASES 161882 | ZFPM1 | 1.371 | DISEASES 7750 | ZMYM2 | 2.133 | DISEASES 79027 | ZNF655 | 1.885 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 147 |
|---|---|
| Disease | myelofibrosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:71) C2712340 | dyspnea C2697424 | gastric cancer C2613439 | extramedullary hematopoiesis C2613439 | extramedullary haemopoiesis C2613439 | extramedullary haematopoiesis C2355575 | bone marrow fibrosis C1963254 | tumor lysis syndrome C1963220 | pulmonary hypertension C1963077 | bone pain C1963059 | adrenal insufficiency C1622502 | portal cirrhosis C1418558 | paroxysmal nocturnal hemoglobinuria C1368019 | paget's disease C1142517 | lupus anticoagulant C1000483 | anemia C0876973 | lung infection C0865240 | red cell aplasia C0836924 | thrombocythaemia C0542035 | erythroid hypoplasia C0424755 | fever C0409908 | secondary gout C0403719 | uric acid nephropathy C0270764 | lower motor neuron disease C0268731 | glomerular disease C0267373 | intestinal bleeding C0239946 | liver fibrosis C0206180 | ki-1 lymphoma C0155789 | bleeding esophageal varices C0085669 | acute leukemia C0085652 | pyoderma gangrenosum C0079772 | t cell lymphoma C0043119 | werner's syndrome C0040034 | thrombocytopenia C0037926 | spinal cord compression C0037299 | skin ulcers C0036421 | systemic sclerosis C0032463 | polycythaemia vera C0031111 | periostitis C0030486 | paraplegia C0030328 | weber-christian disease C0030312 | pancytopenia C0030312 | bone marrow failure C0029464 | osteosclerosis C0028866 | oculomotor nerve paralysis C0027947 | neutropenia C0027051 | myocardial infarction C0027022 | myeloproliferative disorders C0027022 | myeloproliferative disease C0027013 | myeloid metaplasia C0026986 | myelodysplastic syndrome C0026764 | multiple myeloma C0023484 | plasma cell leukemia C0023470 | myelocytic leukemia C0023467 | acute myelogenous leukemia C0023462 | megakaryoblastic leukemia C0023418 | leukemia C0023223 | leg ulcers C0022660 | acute renal failure C0020532 | hypersplenism C0019214 | hepatosplenomegaly C0019087 | hemorrhagic diathesis C0019087 | hemorrhagic diatheses C0019080 | hemorrhage C0018989 | hemiparesis C0017531 | angiofollicular lymph node hyperplasia C0014804 | erythromelalgia C0005699 | blast crisis C0002893 | refractory anemia C0002874 | aplastic anaemia C0002871 | anaemia C0001824 | granulocytopenia |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:27) C0026986 | myelodysplastic syndrome | 9 C0001815 | myelofibrosis | 7 C0023418 | leukemia | 7 C0029464 | osteosclerosis | 4 C0002871 | anemia | 4 C0030312 | pancytopenia | 3 C2613439 | extramedullary haematopoiesis | 2 C0001815 | myeloid metaplasia | 2 C0020542 | pulmonary hypertension | 2 C0206062 | interstitial lung disease | 1 C0017668 | focal segmental glomerulosclerosis | 1 C0040034 | thrombocytopenia | 1 C0015967 | fever | 1 C0023470 | myelocytic leukemia | 1 C0836924 | thrombocythemia | 1 C0085652 | pyoderma gangrenosum | 1 C0030312 | bone marrow failure | 1 C0032463 | polycythemia vera | 1 C0019214 | hepatosplenomegaly | 1 C0027022 | myeloproliferative disease | 1 C0040053 | thrombosis | 1 C0026764 | multiple myeloma | 1 C0018952 | extramedullary hematopoiesis | 1 C0002871 | anaemia | 1 C0020541 | portal hypertension | 1 C0085669 | acute leukemia | 1 C0432487 | post-transplant lymphoproliferative disorder | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:566) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs10758669 | 18006699 | 2057 | EPOR | umls:C0001815 | 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. | 0.000271442 | 2008 | NA | 9 | 4981602 | C | A |
| rs10815148 | 18006699 | 3717 | JAK2 | umls:C0001815 | BeFree | Genotype-phenotype analysis showed 3 JAK2 SNPs (rs7046736, rs10815148, and rs12342421) to be significantly but reciprocally associated with PV (P < .001 for all; odds ratio = 0.16, 2.72, and 2.46, respectively) and ET (P < .001 for all; odds ratio = 3.05, 0.29, and 0.30, respectively) but not with PMF. | 0.294051045 | 2008 | JAK2;INSL6 | 9 | 5057284 | T | A |
| rs10974944 | 20422415 | 3717 | JAK2 | umls:C0001815 | BeFree | We genotyped 149 myeloproliferative neoplasms patients (69 had polycythemia vera, 65 had essential thrombocythemia, and 15 had primary myelofibrosis) with a known JAK2 V617F mutational status and 150 controls for the JAK2 rs10974944 (C/G) single nucleotide polymorphism, in which the G allele tags the 46/1 haplotype. | 0.294051045 | 2010 | JAK2;INSL6 | 9 | 5070831 | C | G |
| rs10974944 | 22251709 | 3717 | JAK2 | umls:C0001815 | BeFree | We then genotyped 138 MPN patients (33 PV, 96 ET, and 9 PMF) with known JAK2 mutational status and 107 controls for a novel SNP, in addition to two SNPs known to be part of the 46/1 haplotype (rs10974944 and rs12343867). | 0.294051045 | 2012 | JAK2;INSL6 | 9 | 5070831 | C | G |
| rs10974947 | 18006699 | 2057 | EPOR | umls:C0001815 | 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. | 0.000271442 | 2008 | JAK2;INSL6 | 9 | 5072846 | G | A |
| rs121912656 | 22052707 | 2744 | GLS | umls:C0001815 | BeFree | A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were screened for TP53 mutations, which were detected in 4 (4%) cases: (i) E204E; GAG>GAA (silent exon 6); (ii) G245D; GGC>GAC (exon 7); (iii) R175H; CGC>CAC (exon 5); and (iv) six base insert (GGCGAG) after bp13767 (exon 6). | 0.000271442 | 2012 | TP53 | 17 | 7674229 | C | T,A |
| rs121912656 | 22052707 | 2548 | GAA | umls:C0001815 | BeFree | A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were screened for TP53 mutations, which were detected in 4 (4%) cases: (i) E204E; GAG>GAA (silent exon 6); (ii) G245D; GGC>GAC (exon 7); (iii) R175H; CGC>CAC (exon 5); and (iv) six base insert (GGCGAG) after bp13767 (exon 6). | 0.000271442 | 2012 | TP53 | 17 | 7674229 | C | T,A |
| rs121912656 | 22052707 | 788 | SLC25A20 | umls:C0001815 | BeFree | A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were screened for TP53 mutations, which were detected in 4 (4%) cases: (i) E204E; GAG>GAA (silent exon 6); (ii) G245D; GGC>GAC (exon 7); (iii) R175H; CGC>CAC (exon 5); and (iv) six base insert (GGCGAG) after bp13767 (exon 6). | 0.000271442 | 2012 | TP53 | 17 | 7674229 | C | T,A |
| rs121912656 | 22052707 | 760 | CA2 | umls:C0001815 | BeFree | A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were screened for TP53 mutations, which were detected in 4 (4%) cases: (i) E204E; GAG>GAA (silent exon 6); (ii) G245D; GGC>GAC (exon 7); (iii) R175H; CGC>CAC (exon 5); and (iv) six base insert (GGCGAG) after bp13767 (exon 6). | 0.000271442 | 2012 | TP53 | 17 | 7674229 | C | T,A |
| rs121913499 | 20410924 | 3417 | IDH1 | umls:C0001815 | 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). | 0.003724241 | 2010 | IDH1 | 2 | 208248389 | G | T,A |
| rs121913502 | 20410924 | 3418 | IDH2 | umls:C0001815 | BeFree | IDH2 mutations included R140Q (n=3; one post-PMF AML, one post-PV AML and one PMF) and a novel R140W (n=1; mutation found in both chronic- and blast-phase samples). | 0.003452799 | 2010 | IDH2 | 15 | 90088702 | C | T |
| rs121913614 | 19713221 | 4352 | MPL | umls:C0001815 | BeFree | Conclusions Patients with familial thrombocytosis caused by a MPL(Ser505Asn) mutation have a high risk of thrombosis and, with aging, develop splenomegaly and bone marrow fibrosis, significantly affecting their life expectancy. | 0.051407048 | 2010 | MPL | 1 | 43349308 | G | A |
| rs121913614 | 19713221 | 4352 | MPL | umls:C0026987 | BeFree | Conclusions Patients with familial thrombocytosis caused by a MPL(Ser505Asn) mutation have a high risk of thrombosis and, with aging, develop splenomegaly and bone marrow fibrosis, significantly affecting their life expectancy. | 0.363528744 | 2010 | MPL | 1 | 43349308 | G | A |
| rs121913614 | 20113333 | 7066 | THPO | umls:C0001815 | BeFree | To evaluate the frequency of MPL W515L, W515K and S505N mutations in essential thrombocythemia (ET) and primary myelofibrosis (PMF) and to determine whether MPLW515L leads to impaired Mpl expression, constitutive STAT3 and STAT5 activation and enhanced response to thrombopoietin (TPO). | 0.002714419 | 2010 | MPL | 1 | 43349308 | G | A |
| rs121913614 | 23994117 | 4352 | MPL | umls:C0001815 | BeFree | We developed a novel multiplexed allele-specific PCR assay capable of detecting most recurrent MPL exon 10 mutations associated with primary myelofibrosis and essential thrombocythemia (W515L, W515K, W515A, and S505N) down to a sensitivity of 2.5% mutant allele. | 0.051407048 | 2013 | MPL | 1 | 43349308 | G | A |
| rs121913615 | 16834459 | 1441 | CSF3R | umls:C0001815 | BeFree | DNA sequence analysis of the exons encoding the transmembrane and juxtamembrane domains of EPOR, MPL, and GCSFR, and comparison with germline DNA derived from buccal swabs, identified a somatic activating mutation in the transmembrane domain of MPL (W515L) in 9% (4/45) of JAKV617F-negative MF. | 0.000271442 | 2006 | MPL | 1 | 43349338 | G | T |
| rs121913615 | 18669880 | 4352 | MPL | umls:C0001815 | BeFree | Acquired mutations in the juxtamembrane region of MPL (W515K or W515L), the receptor for thrombopoietin, have been described in patients with primary myelofibrosis or essential thrombocythemia, which are chronic myeloproliferative disorders. | 0.051407048 | 2008 | MPL | 1 | 43349338 | G | T |
| rs121913615 | 19616600 | 4352 | MPL | umls:C0001815 | BeFree | Histopathological categories ET and prefibrotic PMF correlate with significant differences in mutant allelic burden of JAK2(V617F), but not of MPL(W515L) which, by contrast to JAK2(V617F), shows a higher percentage of mutated alleles in fibrotic than in prefibrotic cases. | 0.051407048 | 2009 | MPL | 1 | 43349338 | G | T |
| rs121913615 | 19274616 | 4352 | MPL | umls:C0001815 | BeFree | Acquired mutations in the juxtamembrane region of MPL (W515L or W515K), the receptor for thrombopoietin, have been reported in patients with primary essential thrombocythemia (ET) or primary myelofibrosis (PMF). | 0.051407048 | 2010 | MPL | 1 | 43349338 | G | T |
| rs121913615 | 20062088 | 4352 | MPL | umls:C0001815 | BeFree | Screening and monitoring of MPL W515L mutation with real-time PCR in patients with myelofibrosis undergoing allogeneic-SCT. | 0.051407048 | 2010 | MPL | 1 | 43349338 | G | T |
| rs121913615 | NA | 4352 | MPL | umls:C0026987 | CLINVAR | NA | 0.363528744 | NA | MPL | 1 | 43349338 | G | T |
| rs121913615 | 17709604 | 4352 | MPL | umls:C0001815 | BeFree | Evidence for MPL W515L/K mutations in hematopoietic stem cells in primitive myelofibrosis. | 0.051407048 | 2007 | MPL | 1 | 43349338 | G | T |
| rs121913615 | 18464114 | 4352 | MPL | umls:C0001815 | 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). | 0.051407048 | 2008 | MPL | 1 | 43349338 | G | T |
| rs121913615 | 17709604 | 4352 | MPL | umls:C0026987 | BeFree | Evidence for MPL W515L/K mutations in hematopoietic stem cells in primitive myelofibrosis. | 0.363528744 | 2007 | MPL | 1 | 43349338 | G | T |
| rs121913615 | 20113333 | 7066 | THPO | umls:C0001815 | BeFree | To evaluate the frequency of MPL W515L, W515K and S505N mutations in essential thrombocythemia (ET) and primary myelofibrosis (PMF) and to determine whether MPLW515L leads to impaired Mpl expression, constitutive STAT3 and STAT5 activation and enhanced response to thrombopoietin (TPO). | 0.002714419 | 2010 | MPL | 1 | 43349338 | G | T |
| rs121913615 | 16834459 | 4352 | MPL | umls:C0026987 | BeFree | DNA sequence analysis of the exons encoding the transmembrane and juxtamembrane domains of EPOR, MPL, and GCSFR, and comparison with germline DNA derived from buccal swabs, identified a somatic activating mutation in the transmembrane domain of MPL (W515L) in 9% (4/45) of JAKV617F-negative MF. | 0.363528744 | 2006 | MPL | 1 | 43349338 | G | T |
| rs121913615 | 18723266 | 4352 | MPL | umls:C0001815 | BeFree | The other three cases of PMF with 1p uniparental disomy had point mutations of the MPL gene, either a novel mutation (S204F) or the previously described W515L. | 0.051407048 | 2008 | MPL | 1 | 43349338 | G | T |
| rs121913615 | 19194467 | 4352 | MPL | umls:C0001815 | BeFree | We conclude that MPL(W515L) occurs in a considerable proportion of acute megakaryoblastic leukaemias with myelofibrosis unrelated to PMF. | 0.051407048 | 2009 | MPL | 1 | 43349338 | G | T |
| rs121913615 | 19261614 | 4352 | MPL | umls:C0001815 | BeFree | The activating W515L mutation in the thrombopoietin receptor (MPL) has been identified in primary myelofibrosis and essential thrombocythemia. | 0.051407048 | 2009 | MPL | 1 | 43349338 | G | T |
| rs121913615 | 23994117 | 4352 | MPL | umls:C0001815 | BeFree | We developed a novel multiplexed allele-specific PCR assay capable of detecting most recurrent MPL exon 10 mutations associated with primary myelofibrosis and essential thrombocythemia (W515L, W515K, W515A, and S505N) down to a sensitivity of 2.5% mutant allele. | 0.051407048 | 2013 | MPL | 1 | 43349338 | G | T |
| rs121913615 | 16834459 | 4352 | MPL | umls:C0001815 | BeFree | DNA sequence analysis of the exons encoding the transmembrane and juxtamembrane domains of EPOR, MPL, and GCSFR, and comparison with germline DNA derived from buccal swabs, identified a somatic activating mutation in the transmembrane domain of MPL (W515L) in 9% (4/45) of JAKV617F-negative MF. | 0.051407048 | 2006 | MPL | 1 | 43349338 | G | T |
| rs121913615 | 19194467 | 4352 | MPL | umls:C0026987 | BeFree | We conclude that MPL(W515L) occurs in a considerable proportion of acute megakaryoblastic leukaemias with myelofibrosis unrelated to PMF. | 0.363528744 | 2009 | MPL | 1 | 43349338 | G | T |
| rs121913615 | 16834459 | 1441 | CSF3R | umls:C0026987 | BeFree | DNA sequence analysis of the exons encoding the transmembrane and juxtamembrane domains of EPOR, MPL, and GCSFR, and comparison with germline DNA derived from buccal swabs, identified a somatic activating mutation in the transmembrane domain of MPL (W515L) in 9% (4/45) of JAKV617F-negative MF. | 0.000271442 | 2006 | MPL | 1 | 43349338 | G | T |
| rs121913615 | 20062088 | 4352 | MPL | umls:C0026987 | BeFree | Screening and monitoring of MPL W515L mutation with real-time PCR in patients with myelofibrosis undergoing allogeneic-SCT. | 0.363528744 | 2010 | MPL | 1 | 43349338 | G | T |
| rs121913615 | 19274616 | 7066 | THPO | umls:C0001815 | BeFree | Acquired mutations in the juxtamembrane region of MPL (W515L or W515K), the receptor for thrombopoietin, have been reported in patients with primary essential thrombocythemia (ET) or primary myelofibrosis (PMF). | 0.002714419 | 2010 | MPL | 1 | 43349338 | G | T |
| rs121913615 | 18669880 | 7066 | THPO | umls:C0001815 | BeFree | Acquired mutations in the juxtamembrane region of MPL (W515K or W515L), the receptor for thrombopoietin, have been described in patients with primary myelofibrosis or essential thrombocythemia, which are chronic myeloproliferative disorders. | 0.002714419 | 2008 | MPL | 1 | 43349338 | G | T |
| rs121913615 | 16834459 | 4352 | MPL | umls:C0026987 | UNIPROT | DNA sequence analysis of the exons encoding the transmembrane and juxtamembrane domains of EPOR, MPL, and GCSFR, and comparison with germline DNA derived from buccal swabs, identified a somatic activating mutation in the transmembrane domain of MPL (W515L) in 9% (4/45) of JAKV617F-negative MF. | 0.363528744 | 2006 | MPL | 1 | 43349338 | G | T |
| rs121913616 | 23994117 | 4352 | MPL | umls:C0001815 | BeFree | We developed a novel multiplexed allele-specific PCR assay capable of detecting most recurrent MPL exon 10 mutations associated with primary myelofibrosis and essential thrombocythemia (W515L, W515K, W515A, and S505N) down to a sensitivity of 2.5% mutant allele. | 0.051407048 | 2013 | NA | NA | NA | NA | NA |
| rs121913616 | 18669880 | 4352 | MPL | umls:C0001815 | BeFree | Acquired mutations in the juxtamembrane region of MPL (W515K or W515L), the receptor for thrombopoietin, have been described in patients with primary myelofibrosis or essential thrombocythemia, which are chronic myeloproliferative disorders. | 0.051407048 | 2008 | NA | NA | NA | NA | NA |
| rs121913616 | 19274616 | 4352 | MPL | umls:C0001815 | BeFree | Acquired mutations in the juxtamembrane region of MPL (W515L or W515K), the receptor for thrombopoietin, have been reported in patients with primary essential thrombocythemia (ET) or primary myelofibrosis (PMF). | 0.051407048 | 2010 | NA | NA | NA | NA | NA |
| rs121913616 | NA | 4352 | MPL | umls:C0026987 | CLINVAR | NA | 0.363528744 | NA | NA | NA | NA | NA | NA |
| rs121913616 | 25176567 | 3717 | JAK2 | umls:C0001815 | BeFree | Mutations of JAK2(V617F) or MPL(W515K/L) were absent in pediatric patients with PMF according to previous studies. | 0.294051045 | 2014 | NA | NA | NA | NA | NA |
| rs121913616 | 19274616 | 7066 | THPO | umls:C0001815 | BeFree | Acquired mutations in the juxtamembrane region of MPL (W515L or W515K), the receptor for thrombopoietin, have been reported in patients with primary essential thrombocythemia (ET) or primary myelofibrosis (PMF). | 0.002714419 | 2010 | NA | NA | NA | NA | NA |
| rs121913616 | 18669880 | 7066 | THPO | umls:C0001815 | BeFree | Acquired mutations in the juxtamembrane region of MPL (W515K or W515L), the receptor for thrombopoietin, have been described in patients with primary myelofibrosis or essential thrombocythemia, which are chronic myeloproliferative disorders. | 0.002714419 | 2008 | NA | NA | NA | NA | NA |
| rs121913616 | 23872309 | 4352 | MPL | umls:C0001815 | BeFree | In order to identify novel somatic mutations associated with classic BCR/ABL1-negative myeloproliferative neoplasms, we performed high-coverage genome sequencing of DNA from peripheral blood granulocytes and cultured skin fibroblasts from a patient with MPL W515K-positive primary myelofibrosis. | 0.051407048 | 2014 | NA | NA | NA | NA | NA |
| rs121913616 | 20113333 | 7066 | THPO | umls:C0001815 | BeFree | To evaluate the frequency of MPL W515L, W515K and S505N mutations in essential thrombocythemia (ET) and primary myelofibrosis (PMF) and to determine whether MPLW515L leads to impaired Mpl expression, constitutive STAT3 and STAT5 activation and enhanced response to thrombopoietin (TPO). | 0.002714419 | 2010 | NA | NA | NA | NA | NA |
| rs12342421 | 18006699 | 3717 | JAK2 | umls:C0001815 | BeFree | Genotype-phenotype analysis showed 3 JAK2 SNPs (rs7046736, rs10815148, and rs12342421) to be significantly but reciprocally associated with PV (P < .001 for all; odds ratio = 0.16, 2.72, and 2.46, respectively) and ET (P < .001 for all; odds ratio = 3.05, 0.29, and 0.30, respectively) but not with PMF. | 0.294051045 | 2008 | JAK2;INSL6 | 9 | 5065750 | G | C |
| rs12343867 | 22251709 | 3717 | JAK2 | umls:C0001815 | BeFree | We then genotyped 138 MPN patients (33 PV, 96 ET, and 9 PMF) with known JAK2 mutational status and 107 controls for a novel SNP, in addition to two SNPs known to be part of the 46/1 haplotype (rs10974944 and rs12343867). | 0.294051045 | 2012 | JAK2;INSL6 | 9 | 5074189 | T | C |
| rs28934572 | 22052707 | 760 | CA2 | umls:C0001815 | BeFree | A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were screened for TP53 mutations, which were detected in 4 (4%) cases: (i) E204E; GAG>GAA (silent exon 6); (ii) G245D; GGC>GAC (exon 7); (iii) R175H; CGC>CAC (exon 5); and (iv) six base insert (GGCGAG) after bp13767 (exon 6). | 0.000271442 | 2012 | NA | NA | NA | NA | NA |
| rs28934572 | 22052707 | 2744 | GLS | umls:C0001815 | BeFree | A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were screened for TP53 mutations, which were detected in 4 (4%) cases: (i) E204E; GAG>GAA (silent exon 6); (ii) G245D; GGC>GAC (exon 7); (iii) R175H; CGC>CAC (exon 5); and (iv) six base insert (GGCGAG) after bp13767 (exon 6). | 0.000271442 | 2012 | NA | NA | NA | NA | NA |
| rs28934572 | 22052707 | 788 | SLC25A20 | umls:C0001815 | BeFree | A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were screened for TP53 mutations, which were detected in 4 (4%) cases: (i) E204E; GAG>GAA (silent exon 6); (ii) G245D; GGC>GAC (exon 7); (iii) R175H; CGC>CAC (exon 5); and (iv) six base insert (GGCGAG) after bp13767 (exon 6). | 0.000271442 | 2012 | NA | NA | NA | NA | NA |
| rs28934572 | 22052707 | 2548 | GAA | umls:C0001815 | BeFree | A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were screened for TP53 mutations, which were detected in 4 (4%) cases: (i) E204E; GAG>GAA (silent exon 6); (ii) G245D; GGC>GAC (exon 7); (iii) R175H; CGC>CAC (exon 5); and (iv) six base insert (GGCGAG) after bp13767 (exon 6). | 0.000271442 | 2012 | NA | NA | NA | NA | NA |
| rs28934578 | 22052707 | 2744 | GLS | umls:C0001815 | BeFree | A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were screened for TP53 mutations, which were detected in 4 (4%) cases: (i) E204E; GAG>GAA (silent exon 6); (ii) G245D; GGC>GAC (exon 7); (iii) R175H; CGC>CAC (exon 5); and (iv) six base insert (GGCGAG) after bp13767 (exon 6). | 0.000271442 | 2012 | TP53 | 17 | 7675088 | C | T,A |
| rs28934578 | 22052707 | 760 | CA2 | umls:C0001815 | BeFree | A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were screened for TP53 mutations, which were detected in 4 (4%) cases: (i) E204E; GAG>GAA (silent exon 6); (ii) G245D; GGC>GAC (exon 7); (iii) R175H; CGC>CAC (exon 5); and (iv) six base insert (GGCGAG) after bp13767 (exon 6). | 0.000271442 | 2012 | TP53 | 17 | 7675088 | C | T,A |
| rs28934578 | 22052707 | 788 | SLC25A20 | umls:C0001815 | BeFree | A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were screened for TP53 mutations, which were detected in 4 (4%) cases: (i) E204E; GAG>GAA (silent exon 6); (ii) G245D; GGC>GAC (exon 7); (iii) R175H; CGC>CAC (exon 5); and (iv) six base insert (GGCGAG) after bp13767 (exon 6). | 0.000271442 | 2012 | TP53 | 17 | 7675088 | C | T,A |
| rs28934578 | 22052707 | 2548 | GAA | umls:C0001815 | BeFree | A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were screened for TP53 mutations, which were detected in 4 (4%) cases: (i) E204E; GAG>GAA (silent exon 6); (ii) G245D; GGC>GAC (exon 7); (iii) R175H; CGC>CAC (exon 5); and (iv) six base insert (GGCGAG) after bp13767 (exon 6). | 0.000271442 | 2012 | TP53 | 17 | 7675088 | C | T,A |
| rs318699 | 18006699 | 2057 | EPOR | umls:C0001815 | 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. | 0.000271442 | 2008 | NA | 19 | 11390564 | A | G |
| rs3808850 | 18006699 | 2057 | EPOR | umls:C0001815 | 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. | 0.000271442 | 2008 | JAK2 | 9 | 4983311 | T | A |
| rs386626619 | 19299003 | 3717 | JAK2 | umls:C0001815 | BeFree | Association of V617F Jak2 mutation with the risk of thrombosis among patients with essential thrombocythaemia or idiopathic myelofibrosis: a systematic review. | 0.294051045 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 24084459 | 3717 | JAK2 | umls:C0001815 | BeFree | The JAK2 V617F mutation was less common on the border of statistical significance (p = 0.08) in Chernobyl primary myelofibrosis (PMF) patients than in non-exposed patients. | 0.294051045 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 16919893 | 3717 | JAK2 | umls:C0026987 | BeFree | The use of biological markers including JAK2 V617 PCR test, serum EPO, PRV-1, EEC, leukocyte alkaline phosphatase score and peripheral blood parameters combined with bone marrow histopathology has a high sensitivity and specificity (almost 100%) to diagnose the early and overt stages of ET, PV and CIMF in JAK2 V617F positive and negative MPDs. | 0.22904428 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 23445613 | 6777 | STAT5B | umls:C0001815 | BeFree | Hemopoietic progenitor cells (HPC) from myeloproliferative neoplasms (MPN) such as myelofibrosis commonly express mutant JAK2-V617F or other mutations that are associated with increased activities of JAK-STAT5/3, RAS/RAF/MAPK, and PI3K/AKT/mTOR pathways. | 0.002171535 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 18336541 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 22065597 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 20966521 | 102606463 | LINC01152 | umls:C0001815 | 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. | 0.001900093 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 23057517 | 4352 | MPL | umls:C0001815 | BeFree | Given their diagnostic relevance, it is also beneficial and relatively straightforward to screen JAK2 V617F negative patients for JAK2 exon 12 mutations (in the case of erythrocytosis) or MPL exon 10 mutations (thrombocytosis or myelofibrosis) using appropriate assays. | 0.051407048 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 16293597 | 3717 | JAK2 | umls:C0001815 | BeFree | V617F mutation in JAK2 is associated with poorer survival in idiopathic myelofibrosis. | 0.294051045 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 17389152 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 24895336 | 4352 | MPL | umls:C0001815 | BeFree | In essential thrombocythemia, 154 (53%) Janus kinase 2 V617F, 96 (33%) calreticulin, 9 (3%) myeloproliferative leukemia virus oncogene gene mutation-positive and 30 triple-negative (11%) cases were identified, while in primary myelofibrosis 56 (57%) Janus kinase 2 V617F, 25 (25%) calreticulin, 7 (7%) myeloproliferative leukemia virus oncogene gene mutation-positive and 11 (11%) triple-negative cases were identified. | 0.051407048 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 20859081 | 3717 | JAK2 | umls:C0001815 | BeFree | Cutaneous myelofibrosis with JAK2 V617F mutation: metastasis, not merely extramedullary hematopoiesis! | 0.294051045 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 17296581 | 3717 | JAK2 | umls:C0001815 | BeFree | An acquired JAK2 (V617F)mutation has been found in myeloid cells from most patients with chronic idiopathic myelofibrosis (IM), but whether it occurs in a common myelo-lymphoid, rather than a myeloid-restricted, progenitor cell is still debated. | 0.294051045 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 16871275 | 3717 | JAK2 | umls:C0026987 | BeFree | Janus kinase 2 (V617F) mutation status, signal transducer and activator of transcription-3 phosphorylation and impaired neutrophil apoptosis in myelofibrosis with myeloid metaplasia. | 0.22904428 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 22280409 | 53827 | FXYD5 | umls:C0026987 | BeFree | In conclusion, a simple model which includes: age, JAK2 V617F-status and constitutional symptoms can clearly separate distinct risk groups and can be used in addition to the Lille model to predict OS after RIC-ASCT for myelofibrosis. | 0.000271442 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 25934766 | 3717 | JAK2 | umls:C0026987 | BeFree | This study revealed that CALR mutant essential thrombocythemia is associated with younger age, higher platelet counts, lower erythrocyte counts, leukocyte counts, hemoglobin, and hematocrit, and increased risk of progression to myelofibrosis in comparison with JAK2 V617F-positive essential thrombocythemia. | 0.22904428 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 25637689 | 3717 | JAK2 | umls:C0001815 | BeFree | We found twelve individuals with the JAK2 V617F mutation; five of them had been clinically classified as PV, five as ET, and one as MF. | 0.294051045 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 19277418 | 3717 | JAK2 | umls:C0026987 | BeFree | JAK2 V617F was detected in 89 (61%) patients with ET, 103 (86%) with PV, four (33%) with myelofibrosis, and four (80%) with MPNu. | 0.22904428 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 25912019 | 3717 | JAK2 | umls:C0001815 | BeFree | Activation of Janus kinase 2 (JAK2), frequently as a result of the JAK2(V617F) mutation, is a characteristic feature of the classical myeloproliferative neoplasms (MPNs) polycythemia vera, essential thrombocythemia, and myelofibrosis, and it is thought to be responsible for the constitutional symptoms associated with these diseases. | 0.294051045 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 21904853 | 4352 | MPL | umls:C0001815 | 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. | 0.051407048 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 16919893 | 2056 | EPO | umls:C0026987 | BeFree | The use of biological markers including JAK2 V617 PCR test, serum EPO, PRV-1, EEC, leukocyte alkaline phosphatase score and peripheral blood parameters combined with bone marrow histopathology has a high sensitivity and specificity (almost 100%) to diagnose the early and overt stages of ET, PV and CIMF in JAK2 V617F positive and negative MPDs. | 0.001085767 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 19605821 | 4597 | MVD | umls:C0001815 | BeFree | In this context, the distinctive role of a positive JAK2(V617F) mutation for the diagnosis of Ph- MPD was underscored, including entities with a low allele burden and the discrimination from reactive disorders (autoimmune myelofibrosis, reactive thrombocytosis). | 0.002442977 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 23445613 | 6777 | STAT5B | umls:C0026987 | BeFree | Hemopoietic progenitor cells (HPC) from myeloproliferative neoplasms (MPN) such as myelofibrosis commonly express mutant JAK2-V617F or other mutations that are associated with increased activities of JAK-STAT5/3, RAS/RAF/MAPK, and PI3K/AKT/mTOR pathways. | 0.001628651 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 23445613 | 947 | CD34 | umls:C0026987 | BeFree | Here, we show that treatment with the dual phosphoinositide-3-kinase (PI3K)/AKT and mTOR inhibitor BEZ235 attenuated PI3K/AKT and mTOR signaling, as well as induced cell-cycle growth arrest and apoptosis of the cultured human JAK2-V617F-expressing HEL92.1.7 (HEL), UKE1 cells, and primary CD34+ myelofibrosis (MF)-MPN cells. | 0.002714419 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 18048969 | 3717 | JAK2 | umls:C0026987 | BeFree | The recently identified JAK2(V617F) mutation is frequently present in the classic CMPDs polycythemia vera, essential thrombocythemia, and chronic idiopathic myelofibrosis. | 0.22904428 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 24951423 | 3717 | JAK2 | umls:C0001815 | BeFree | We investigated this question using conditional JAK2(V617F) knock-in mice with constitutive and inducible expression of JAK2(V617F) in hematopoietic cells, which develop a polycythemia vera (PV)-like disorder evolving into myelofibrosis. | 0.294051045 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 20650526 | 3717 | JAK2 | umls:C0026987 | BeFree | JAK2(V617F) allele burden in polycythemia vera correlates with grade of myelofibrosis, but is not substantially affected by therapy. | 0.22904428 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 19713696 | 3717 | JAK2 | umls:C0001815 | BeFree | Wild-type JAK2 secondary acute erythroleukemia developing after JAK2-V617F-mutated primary myelofibrosis. | 0.294051045 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 20354212 | 3717 | JAK2 | umls:C0001815 | BeFree | Allele-specific wild-type blocker quantitative PCR for highly sensitive detection of rare JAK2 p.V617F point mutation in primary myelofibrosis as an appropriate tool for the monitoring of molecular remission following therapy. | 0.294051045 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 17213018 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 19175693 | 3717 | JAK2 | umls:C0001815 | 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). | 0.294051045 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 22234689 | 6777 | STAT5B | umls:C0001815 | BeFree | JAK2(V617F) failed to induce polycythemia in recipients after deletion of Stat5a/b, although the loss of STAT5 did not prevent the development of myelofibrosis. | 0.002171535 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 25171702 | 3717 | JAK2 | umls:C0001815 | BeFree | Megakaryocytic morphology and clinical parameters in essential thrombocythemia, polycythemia vera, and primary myelofibrosis with and without JAK2 V617F. | 0.294051045 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 25176567 | 3717 | JAK2 | umls:C0001815 | BeFree | Mutations of JAK2(V617F) or MPL(W515K/L) were absent in pediatric patients with PMF according to previous studies. | 0.294051045 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 17255768 | 3717 | JAK2 | umls:C0026987 | BeFree | The frequency of the JAK2 V617F was 73% (85% in PV, 65% in ET, and 65% in CIMF). | 0.22904428 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 16810614 | 3717 | JAK2 | umls:C0026987 | BeFree | JAK2 V617F-positive ET/PV and CIMF should be distinguished from wild-type JAK2 ET, rare cases of PV, and CIMF, and should be evaluated during life-long follow-up. | 0.22904428 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 16531268 | 3717 | JAK2 | umls:C0026987 | BeFree | A longitudinal study of the JAK2(V617F) mutation in myelofibrosis with myeloid metaplasia: analysis at two time points. | 0.22904428 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 16919893 | 3717 | JAK2 | umls:C0001815 | BeFree | The use of biological markers including JAK2 V617 PCR test, serum EPO, PRV-1, EEC, leukocyte alkaline phosphatase score and peripheral blood parameters combined with bone marrow histopathology has a high sensitivity and specificity (almost 100%) to diagnose the early and overt stages of ET, PV and CIMF in JAK2 V617F positive and negative MPDs. | 0.294051045 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 21904853 | 867 | CBL | umls:C0001815 | 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. | 0.000542884 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 16871275 | 3717 | JAK2 | umls:C0001815 | BeFree | Janus kinase 2 (V617F) mutation status, signal transducer and activator of transcription-3 phosphorylation and impaired neutrophil apoptosis in myelofibrosis with myeloid metaplasia. | 0.294051045 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 23555782 | 3717 | JAK2 | umls:C0001815 | BeFree | JAK2 V617F genotype is a strong determinant of blast transformation in primary myelofibrosis. | 0.294051045 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 19643476 | 3717 | JAK2 | umls:C0001815 | BeFree | We report three novel mutations in JAK2 exons 12, 19 and 25 in V617F-negative patients with polycythemia vera, essential thrombocythemia and idiopathic myelofibrosis. | 0.294051045 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 22463737 | 3717 | JAK2 | umls:C0026987 | BeFree | These changes and the resultant clinical research are discussed in this article where we argue that discovery of the JAK2 V617F mutation has signalled the much delayed change in therapeutic paradigm for myelofibrosis and possibly other MPNs from palliation and allowing us to move closer to, but not yet attain, a cure. | 0.22904428 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 19616600 | 3717 | JAK2 | umls:C0001815 | BeFree | Thus, for Ph(-) MPN in which ET and prefibrotic PMF represent the most probable diagnoses, a JAK2(V617F) allele burden >50% favors a diagnosis of prefibrotic PMF. | 0.294051045 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 22304488 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 24957246 | 811 | CALR | umls:C0001815 | BeFree | Patients with JAK2 V617F-positive MPN have a heterogeneous histology while CALR-positive ET is associated with megakaryocyte abnormalities and prefibrotic PMF. | 0.127328931 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 24957246 | 83886 | PRSS27 | umls:C0001815 | BeFree | Patients with JAK2 V617F-positive MPN have a heterogeneous histology while CALR-positive ET is associated with megakaryocyte abnormalities and prefibrotic PMF. | 0.003528744 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 20339092 | 861 | RUNX1 | umls:C0001815 | BeFree | AML1 mRNA expression was elevated in patients with PV, essential thrombocythemia, and primary myelofibrosis both in the presence and absence of JAK2(V617F). | 0.001085767 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 18781401 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 23445613 | 6776 | STAT5A | umls:C0026987 | BeFree | Hemopoietic progenitor cells (HPC) from myeloproliferative neoplasms (MPN) such as myelofibrosis commonly express mutant JAK2-V617F or other mutations that are associated with increased activities of JAK-STAT5/3, RAS/RAF/MAPK, and PI3K/AKT/mTOR pathways. | 0.001628651 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 23057517 | 3717 | JAK2 | umls:C0026987 | BeFree | Given their diagnostic relevance, it is also beneficial and relatively straightforward to screen JAK2 V617F negative patients for JAK2 exon 12 mutations (in the case of erythrocytosis) or MPL exon 10 mutations (thrombocytosis or myelofibrosis) using appropriate assays. | 0.22904428 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 20425385 | 3717 | JAK2 | umls:C0001815 | BeFree | Novel treatment strategies are under investigation, including targeted inhibition of JAK2(V617F), the activating tyrosine kinase point mutation present in about half of patients with MMM. | 0.294051045 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 19287384 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 17961178 | 947 | CD34 | umls:C0001815 | BeFree | The present data suggests the JAK2 V617F allele burden as a key determinant of the degree of myeloproliferation and myeloid metaplasia reflected by significantly higher levels of white blood cell counts (WBC) (P = 0.03), CD34 counts (P = 0.03), lactate dehydrogenase and Polycythemia Rubra Vera gene 1 levels (P = 0.03 and P < 0.00001 respectively), as well as lower platelet counts (P = 0.02) and more cases of splenomegaly (P = 0.001) in homozygous PV patients compared to their heterozygous counterparts. | 0.009238955 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 22364960 | 3717 | JAK2 | umls:C0026987 | BeFree | The presence of JAK2 V617F mutation is a cause of primary thrombocythemia and myelofibrosis in acromegaly. | 0.22904428 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 15781101 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 17018857 | 3717 | JAK2 | umls:C0026987 | BeFree | Monitoring of the JAK2-V617F mutation by highly sensitive quantitative real-time PCR after allogeneic stem cell transplantation in patients with myelofibrosis. | 0.22904428 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 23057517 | 4352 | MPL | umls:C0026987 | BeFree | Given their diagnostic relevance, it is also beneficial and relatively straightforward to screen JAK2 V617F negative patients for JAK2 exon 12 mutations (in the case of erythrocytosis) or MPL exon 10 mutations (thrombocytosis or myelofibrosis) using appropriate assays. | 0.363528744 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 18612778 | 3717 | JAK2 | umls:C0026987 | BeFree | Using novel mutation-specific PCR which is a highly sensitive PCR-based assay for detection of JAK2 mutated allele(s), we identified V617F in 38 Ph-MPD, which include 13 polycythemia vera (PV), 23 essential thrombocythemia (ET) and 2 chronic idiopatic myelofibrosis. | 0.22904428 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 17059429 | 4597 | MVD | umls:C0001815 | 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. | 0.002442977 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 16197445 | 3717 | JAK2 | umls:C0001815 | BeFree | In order to explore the correlation between these two biological markers and compare their diagnostic utility, mutation analysis for JAK2(V617F) and quantitative measurement of granulocyte PRV-1 expression were performed on the same study sample from 100 participants: 38 with PV, 22 with essential thrombocythaemia (ET), 10 with agnogenic myeloid metaplasia (AMM), 19 with secondary polycythaemia (SP) and 11 healthy volunteers. | 0.294051045 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 25259626 | 3717 | JAK2 | umls:C0001815 | 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). | 0.294051045 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 25870379 | 811 | CALR | umls:C0001815 | BeFree | The classical Philadelphia chromosome-negative myeloproliferative neoplasms (MPN), which include essential thrombocythemia, polycythemia vera, and myelofibrosis (MF), are in a new era of molecular diagnosis, ushered in by the identification of the JAK2(V617F) and cMPL mutations in 2005 and 2006, respectively, and the CALR mutations in 2013. | 0.127328931 | 2016 | NA | NA | NA | NA | NA |
| rs386626619 | 22300941 | 57126 | CD177 | umls:C0026987 | BeFree | Deregulation of apoptosis-related genes is associated with PRV1 overexpression and JAK2 V617F allele burden in Essential Thrombocythemia and Myelofibrosis. | 0.001357209 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 23644853 | 3717 | JAK2 | umls:C0001815 | BeFree | To evaluate whether risk scores used to classify patients with primary myelofibrosis and JAK-2 V617F mutation status can predict clinical outcome. | 0.294051045 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 22234689 | 6777 | STAT5B | umls:C0026987 | BeFree | JAK2(V617F) failed to induce polycythemia in recipients after deletion of Stat5a/b, although the loss of STAT5 did not prevent the development of myelofibrosis. | 0.001628651 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 21228032 | 4352 | MPL | umls:C0001815 | BeFree | Somatic mutations of MPL exon 10, mainly involving a W515 substitution, have been described in JAK2 (V617F)-negative patients with essential thrombocythemia and primary myelofibrosis. | 0.051407048 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 16225651 | 3717 | JAK2 | umls:C0026987 | BeFree | The JAK2(V617F) tyrosine kinase mutation in myelofibrosis with myeloid metaplasia: lineage specificity and clinical correlates. | 0.22904428 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 23057517 | 3717 | JAK2 | umls:C0001815 | BeFree | Given their diagnostic relevance, it is also beneficial and relatively straightforward to screen JAK2 V617F negative patients for JAK2 exon 12 mutations (in the case of erythrocytosis) or MPL exon 10 mutations (thrombocytosis or myelofibrosis) using appropriate assays. | 0.294051045 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 17178722 | 3717 | JAK2 | umls:C0001815 | BeFree | JAK2(V617F), a mutant of tyrosine kinase JAK2, is found in most patients with polycythemia vera (PV) and a substantial proportion of patients with idiopathic myelofibrosis or essential thrombocythemia. | 0.294051045 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 16919893 | 57126 | CD177 | umls:C0026987 | BeFree | The use of biological markers including JAK2 V617 PCR test, serum EPO, PRV-1, EEC, leukocyte alkaline phosphatase score and peripheral blood parameters combined with bone marrow histopathology has a high sensitivity and specificity (almost 100%) to diagnose the early and overt stages of ET, PV and CIMF in JAK2 V617F positive and negative MPDs. | 0.001357209 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 24186132 | 3717 | JAK2 | umls:C0001815 | BeFree | JAK2 V617F mutations were detected in 6 of the 28 patients with bone marrow fibrosis presenting at the time of diagnosis and 2 of the 7 patients with bone marrow fibrosis developing in the course of disease, significantly higher than the control group patients. | 0.294051045 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 24986690 | 3717 | JAK2 | umls:C0001815 | BeFree | Of the 617 subjects studied, 399 (64.7%) carried JAK2 (V617F), 140 (22.7%) had a CALR exon 9 indel, 25 (4.0%) carried an MPL (W515) mutation, and 53 (8.6%) had nonmutated JAK2, CALR, and MPL (so-called triple-negative PMF). | 0.294051045 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 16924638 | 3717 | JAK2 | umls:C0001815 | BeFree | One hundred and forty four patients with a clinical indication of suspected polycythemia vera (PV), essential thrombocythemia, or idiopathic myelofibrosis were screened for JAK2(V617F) and the mutation frequency was 47, 51, and 50%, respectively. | 0.294051045 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 25912019 | 3717 | JAK2 | umls:C0026987 | BeFree | Activation of Janus kinase 2 (JAK2), frequently as a result of the JAK2(V617F) mutation, is a characteristic feature of the classical myeloproliferative neoplasms (MPNs) polycythemia vera, essential thrombocythemia, and myelofibrosis, and it is thought to be responsible for the constitutional symptoms associated with these diseases. | 0.22904428 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 26228487 | 3717 | JAK2 | umls:C0001815 | 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). | 0.294051045 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 20560681 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 23130336 | 3717 | JAK2 | umls:C0001815 | BeFree | The JAK2 V617F mutational status and its allele burden correlate with the clinicohematologic phenotypes of ET patients, including older age, higher neutrophil count, and greater rates of organomegaly, thrombotic events, and myelofibrosis. | 0.294051045 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 23391844 | 3717 | JAK2 | umls:C0001815 | BeFree | The JAK2 V617F mutation has been detected in patients with classical myeloproliferative disorders (MPD) including polycythemia vera and essential thrombocythemia and idiopathic myelofibrosis. | 0.294051045 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 16532437 | 2056 | EPO | umls:C0026987 | BeFree | Respective clustering of unfavorable and favorable cytogenetic clones in myelofibrosis with myeloid metaplasia with homozygosity for JAK2(V617F) and response to erythropoietin therapy. | 0.001085767 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 22300941 | 3717 | JAK2 | umls:C0001815 | BeFree | Deregulation of apoptosis-related genes is associated with PRV1 overexpression and JAK2 V617F allele burden in Essential Thrombocythemia and Myelofibrosis. | 0.294051045 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 25746303 | 3717 | JAK2 | umls:C0001815 | BeFree | Frequency and allele burden of CALR mutations in Chinese with essential thrombocythemia and primary myelofibrosis without JAK2(V617F) or MPL mutations. | 0.294051045 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 17145859 | 3717 | JAK2 | umls:C0001815 | BeFree | The JAK2(V617F) mutation is present in almost all patients with polycythemia vera (PV), large proportions of patients with essential thrombocythemia and idiopathic myelofibrosis, and less frequently in atypical myeloproliferative disorders (MPD). | 0.294051045 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 19521323 | 3717 | JAK2 | umls:C0001815 | BeFree | The diagnosis and management of polycythemia vera, essential thrombocythemia, and primary myelofibrosis in the JAK2 V617F era. | 0.294051045 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 16210034 | 3717 | JAK2 | umls:C0001815 | BeFree | However, it is very clear that some patients with classical PV lack the JAK2 V617F mutation, while some patients with other chronic myeloproliferative disorders such as idiopathic myelofibrosis (IMF) and essential thrombocytosis (ET) also express the JAK2 V617F mutation. | 0.294051045 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 17565328 | 3717 | JAK2 | umls:C0001815 | BeFree | Use of the activating gene mutation of the tyrosine kinase (VAL617Phe) JAK2 as a minimal residual disease marker in patients with myelofibrosis and myeloid metaplasia after allogeneic stem cell transplantation. | 0.294051045 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 25870379 | 3717 | JAK2 | umls:C0026987 | BeFree | The classical Philadelphia chromosome-negative myeloproliferative neoplasms (MPN), which include essential thrombocythemia, polycythemia vera, and myelofibrosis (MF), are in a new era of molecular diagnosis, ushered in by the identification of the JAK2(V617F) and cMPL mutations in 2005 and 2006, respectively, and the CALR mutations in 2013. | 0.22904428 | 2016 | NA | NA | NA | NA | NA |
| rs386626619 | 17587878 | 3717 | JAK2 | umls:C0001815 | BeFree | Megakaryocytes are homozygous in the majority of fibrotic CIMF and PV, whereas JAK2(V617F) heterozygosity is predominantly encountered in prefibrotic CIMF and essential thrombocythaemia but transition from hetero- to homozygosity with onset of fibrosis is rare. | 0.294051045 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 20966521 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 16225651 | 3717 | JAK2 | umls:C0001815 | BeFree | The JAK2(V617F) tyrosine kinase mutation in myelofibrosis with myeloid metaplasia: lineage specificity and clinical correlates. | 0.294051045 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 25870379 | 811 | CALR | umls:C0026987 | BeFree | The classical Philadelphia chromosome-negative myeloproliferative neoplasms (MPN), which include essential thrombocythemia, polycythemia vera, and myelofibrosis (MF), are in a new era of molecular diagnosis, ushered in by the identification of the JAK2(V617F) and cMPL mutations in 2005 and 2006, respectively, and the CALR mutations in 2013. | 0.121628651 | 2016 | NA | NA | NA | NA | NA |
| rs386626619 | 16871275 | 6774 | STAT3 | umls:C0001815 | BeFree | Janus kinase 2 (V617F) mutation status, signal transducer and activator of transcription-3 phosphorylation and impaired neutrophil apoptosis in myelofibrosis with myeloid metaplasia. | 0.003810118 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 25746303 | 811 | CALR | umls:C0001815 | BeFree | Frequency and allele burden of CALR mutations in Chinese with essential thrombocythemia and primary myelofibrosis without JAK2(V617F) or MPL mutations. | 0.127328931 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 19941738 | 3717 | JAK2 | umls:C0001815 | BeFree | JAK2 V617F distribution was PV 40/45 (89%), ET 30/43 (69%), and IMF 7/15 (47%). | 0.294051045 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 19657484 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 16810609 | 4597 | MVD | umls:C0001815 | BeFree | Bone marrow histopathology in addition to clinical, laboratory, biological, and molecular markers, including the JAK2 V617 PCR test, serum EPO, PRV-1, EEC, LAP score, peripheral blood parameters, and spleen size on echogram will detect the early stages of MPD and allows diagnostic differentiation of the three primary MPDs (ET, PV, and CIMF) in both JAK2 V617F-positive and JAK2 wild-type MPD patients. | 0.002442977 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 23445613 | 947 | CD34 | umls:C0001815 | BeFree | Here, we show that treatment with the dual phosphoinositide-3-kinase (PI3K)/AKT and mTOR inhibitor BEZ235 attenuated PI3K/AKT and mTOR signaling, as well as induced cell-cycle growth arrest and apoptosis of the cultured human JAK2-V617F-expressing HEL92.1.7 (HEL), UKE1 cells, and primary CD34+ myelofibrosis (MF)-MPN cells. | 0.009238955 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 20650526 | 3717 | JAK2 | umls:C0001815 | BeFree | JAK2(V617F) allele burden in polycythemia vera correlates with grade of myelofibrosis, but is not substantially affected by therapy. | 0.294051045 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 16919893 | 2056 | EPO | umls:C0001815 | BeFree | The use of biological markers including JAK2 V617 PCR test, serum EPO, PRV-1, EEC, leukocyte alkaline phosphatase score and peripheral blood parameters combined with bone marrow histopathology has a high sensitivity and specificity (almost 100%) to diagnose the early and overt stages of ET, PV and CIMF in JAK2 V617F positive and negative MPDs. | 0.001085767 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 16563504 | 3717 | JAK2 | umls:C0001815 | BeFree | JAK2(V617F) and leukemic transformation in myelofibrosis with myeloid metaplasia. | 0.294051045 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 18612778 | 3717 | JAK2 | umls:C0001815 | BeFree | Using novel mutation-specific PCR which is a highly sensitive PCR-based assay for detection of JAK2 mutated allele(s), we identified V617F in 38 Ph-MPD, which include 13 polycythemia vera (PV), 23 essential thrombocythemia (ET) and 2 chronic idiopatic myelofibrosis. | 0.294051045 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 25116092 | 3717 | JAK2 | umls:C0001815 | BeFree | Four main molecular types of clonal MPN can be distinguished: JAK2(V617F)-positive ET and PV; JAK2 wild-type ET carrying the MPL(515); mutations in the calreticulin (CALR) gene in JAK2/MPL wild-type ET and MF, and a small proportion of JAK2/MPL/CALR wild-type ET and MF patients. | 0.294051045 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 22818858 | 3717 | JAK2 | umls:C0001815 | BeFree | There was a trend toward a more frequent evolution to myelofibrosis when the JAK2(V617F) mutated allele burden was >50% (p=0.09), but not to AML. | 0.294051045 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 17183644 | 3717 | JAK2 | umls:C0026987 | BeFree | A somatic activating mutation (V617F) in the JAK2 tyrosine kinase was recently discovered in the majority of patients with polycythemia vera (PV), and some with essential thrombocythemia (ET) and chronic idiopathic myelofibrosis. | 0.22904428 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 24475114 | 3717 | JAK2 | umls:C0001815 | BeFree | Most cases of BCR-ABL1-negative myeloproliferative neoplasms (MPNs), essential thrombocythemia, polycythemia vera and primary myelofibrosis are associated with JAK2 (V617F) mutations. | 0.294051045 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 16912229 | 3717 | JAK2 | umls:C0001815 | 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). | 0.294051045 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 16810609 | 2056 | EPO | umls:C0026987 | BeFree | MPD-specific markers such as serum EPO, endogenous erythroid colony formation (EEC), and JAK2 V617F have high specificities, but the sensitivities are not high enough to detect the early stages of the MPDs, ET, PV, and prefibrotic CIMF. | 0.001085767 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 22555824 | 3717 | JAK2 | umls:C0026987 | BeFree | It is now a well recognized fact that the JAK2 (V617F) mutation occurs in majority of the patients with polycythaemia vera (PV) and half of those with myelofibrosis and essential thrombocythaemia. | 0.22904428 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 24856675 | 3717 | JAK2 | umls:C0001815 | BeFree | The discovery of the activating JAK2 V617F mutation in patients with myelofibrosis (MF) led to the development of JAK2 inhibitors. | 0.294051045 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 16954506 | 3717 | JAK2 | umls:C0001815 | BeFree | Evidence that the JAK2 G1849T (V617F) mutation occurs in a lymphomyeloid progenitor in polycythemia vera and idiopathic myelofibrosis. | 0.294051045 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 16225651 | 3717 | JAK2 | umls:C0027013 | BeFree | In the current study, mutation analysis for JAK2(V617F) was performed in peripheral blood mononuclear cells (PBMC) from 157 patients with myelofibrosis with myeloid metaplasia (MMM) including 117 with agnogenic (AMM), 22 with postpolycythaemic (PPMM), and 18 with post-thrombocythaemic (PTMM) myeloid metaplasia. | 0.001085767 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 16532437 | 3717 | JAK2 | umls:C0026987 | BeFree | Respective clustering of unfavorable and favorable cytogenetic clones in myelofibrosis with myeloid metaplasia with homozygosity for JAK2(V617F) and response to erythropoietin therapy. | 0.22904428 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 18769448 | 3717 | JAK2 | umls:C0026987 | BeFree | In bone marrow reconstitution models based on retroviral transduction, the phenotype induced by JAK2 V617F is less severe and different from the rapid fatal myelofibrosis induced by TpoR W515L. | 0.22904428 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 17183644 | 3717 | JAK2 | umls:C0001815 | BeFree | A somatic activating mutation (V617F) in the JAK2 tyrosine kinase was recently discovered in the majority of patients with polycythemia vera (PV), and some with essential thrombocythemia (ET) and chronic idiopathic myelofibrosis. | 0.294051045 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 24186132 | 3717 | JAK2 | umls:C0026987 | BeFree | JAK2 V617F mutations were detected in 6 of the 28 patients with bone marrow fibrosis presenting at the time of diagnosis and 2 of the 7 patients with bone marrow fibrosis developing in the course of disease, significantly higher than the control group patients. | 0.22904428 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 23430670 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 22280409 | 3717 | JAK2 | umls:C0026987 | BeFree | In conclusion, a simple model which includes: age, JAK2 V617F-status and constitutional symptoms can clearly separate distinct risk groups and can be used in addition to the Lille model to predict OS after RIC-ASCT for myelofibrosis. | 0.22904428 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 21904853 | 3417 | IDH1 | umls:C0001815 | 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. | 0.003724241 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 25746303 | 4352 | MPL | umls:C0001815 | BeFree | Frequency and allele burden of CALR mutations in Chinese with essential thrombocythemia and primary myelofibrosis without JAK2(V617F) or MPL mutations. | 0.051407048 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 22818858 | 3717 | JAK2 | umls:C0026987 | BeFree | There was a trend toward a more frequent evolution to myelofibrosis when the JAK2(V617F) mutated allele burden was >50% (p=0.09), but not to AML. | 0.22904428 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 18769448 | 3717 | JAK2 | umls:C0001815 | BeFree | In bone marrow reconstitution models based on retroviral transduction, the phenotype induced by JAK2 V617F is less severe and different from the rapid fatal myelofibrosis induced by TpoR W515L. | 0.294051045 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 16537803 | 3717 | JAK2 | umls:C0026987 | 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). | 0.22904428 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 16247455 | 3717 | JAK2 | umls:C0026987 | BeFree | A missense somatic mutation in JAK2 gene (JAK2 V617F) has recently been reported in chronic myeloproliferative disorders, including polycythemia vera, essential thrombocythemia and myelofibrosis with myeloid metaplasia, strongly suggesting its role in the pathogenesis of myeloid disorders. | 0.22904428 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 16810609 | 3717 | JAK2 | umls:C0026987 | BeFree | Bone marrow histopathology in addition to clinical, laboratory, biological, and molecular markers, including the JAK2 V617 PCR test, serum EPO, PRV-1, EEC, LAP score, peripheral blood parameters, and spleen size on echogram will detect the early stages of MPD and allows diagnostic differentiation of the three primary MPDs (ET, PV, and CIMF) in both JAK2 V617F-positive and JAK2 wild-type MPD patients. | 0.22904428 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 18033315 | 3717 | JAK2 | umls:C0001815 | BeFree | An acquired JAK2 V617F mutation is found in most patients with polycythemia vera (PV), and about half of patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF). | 0.294051045 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 23209034 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 23116358 | 3717 | JAK2 | umls:C0001815 | BeFree | The JAK2 V617F somatic mutation is present in the majority of patients with myeloproliferative cancer (polycythaemia vera, essential thrombocytosis, and primary myelofibrosis). | 0.294051045 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 16325696 | 3717 | JAK2 | umls:C0001815 | BeFree | An acquired V617F mutation in JAK2 occurs in most patients with polycythaemia vera, but is seen in only half those with essential thrombocythaemia and idiopathic myelofibrosis. | 0.294051045 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 20631743 | 3717 | JAK2 | umls:C0001815 | BeFree | In conclusion, a JAK2 (V617F) allele burden >50% represents a risk factor for progression to MF in PV. | 0.294051045 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 20631743 | 3717 | JAK2 | umls:C0026987 | BeFree | In conclusion, a JAK2 (V617F) allele burden >50% represents a risk factor for progression to MF in PV. | 0.22904428 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 20160166 | 3717 | JAK2 | umls:C0001815 | BeFree | The activating mutation JAK2 V617F plays a central role in the pathogenesis of polycythemia vera, essential thrombocythemia, and primary myelofibrosis. | 0.294051045 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 18723264 | 947 | CD34 | umls:C0001815 | BeFree | CD34(+) cell JAK2(V617F) clonal dominance, defined as coherence between the CD34(+) cell and neutrophil JAK2(V617F) allele burdens, was present in 24% of ET, 56% of PV, and 93% of PMF patients, and was independent of the CD34(+) cell JAK2(V617F) genotype. | 0.009238955 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 16293880 | 3717 | JAK2 | umls:C0026987 | BeFree | The nature of the specific oncogenic mutation(s) is currently being unraveled with the recent discovery of an association between a somatic point mutation of JAK2 tyrosine kinase (V617F) and bcr/abl-negative myeloproliferative disorders, including MMM. | 0.22904428 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 18612778 | 4597 | MVD | umls:C0001815 | BeFree | Using novel mutation-specific PCR which is a highly sensitive PCR-based assay for detection of JAK2 mutated allele(s), we identified V617F in 38 Ph-MPD, which include 13 polycythemia vera (PV), 23 essential thrombocythemia (ET) and 2 chronic idiopatic myelofibrosis. | 0.002442977 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 22234689 | 3717 | JAK2 | umls:C0026987 | BeFree | JAK2(V617F) failed to induce polycythemia in recipients after deletion of Stat5a/b, although the loss of STAT5 did not prevent the development of myelofibrosis. | 0.22904428 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 19616600 | 83886 | PRSS27 | umls:C0001815 | BeFree | Thus, for Ph(-) MPN in which ET and prefibrotic PMF represent the most probable diagnoses, a JAK2(V617F) allele burden >50% favors a diagnosis of prefibrotic PMF. | 0.003528744 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 22463737 | 3717 | JAK2 | umls:C0001815 | BeFree | These changes and the resultant clinical research are discussed in this article where we argue that discovery of the JAK2 V617F mutation has signalled the much delayed change in therapeutic paradigm for myelofibrosis and possibly other MPNs from palliation and allowing us to move closer to, but not yet attain, a cure. | 0.294051045 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 20425385 | 3717 | JAK2 | umls:C0026987 | BeFree | Novel treatment strategies are under investigation, including targeted inhibition of JAK2(V617F), the activating tyrosine kinase point mutation present in about half of patients with MMM. | 0.22904428 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 16373657 | 3717 | JAK2 | umls:C0001815 | BeFree | In polycythemia vera, JAK2 (V617F) was detected in 23 of 25 subjects at diagnosis and in 16 of 16 patients whose disease had evolved into myelofibrosis; median percentages of mutant alleles in these subgroups were significantly different (32% versus 95%, P < .001). | 0.294051045 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 17266061 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 17587878 | 3717 | JAK2 | umls:C0026987 | BeFree | Megakaryocytes are homozygous in the majority of fibrotic CIMF and PV, whereas JAK2(V617F) heterozygosity is predominantly encountered in prefibrotic CIMF and essential thrombocythaemia but transition from hetero- to homozygosity with onset of fibrosis is rare. | 0.22904428 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 17266061 | 3717 | JAK2 | umls:C0026987 | 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. | 0.22904428 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 18786436 | 3717 | JAK2 | umls:C0026987 | BeFree | Recurrent der(9;18) in essential thrombocythemia with JAK2 V617F is highly linked to myelofibrosis development. | 0.22904428 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 17285276 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 22300941 | 3717 | JAK2 | umls:C0026987 | BeFree | Deregulation of apoptosis-related genes is associated with PRV1 overexpression and JAK2 V617F allele burden in Essential Thrombocythemia and Myelofibrosis. | 0.22904428 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 16990584 | 7852 | CXCR4 | umls:C0001815 | BeFree | Abnormal expression of HMGA2 and CXCR4 in IM granulocytes was dependent on the presence and the mutational status of JAK2(V617F) mutation. | 0.009801702 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 17317861 | 3717 | JAK2 | umls:C0001815 | BeFree | The somatic JAK2 valine-to-phenylalanine (V617F) mutation has been detected in up to 90% of patients with polycythemia and in a sizeable proportion of patients with other myeloproliferative disorders such as essential thrombocythemia and idiopathic myelofibrosis. | 0.294051045 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 24811089 | 3717 | JAK2 | umls:C0001815 | BeFree | JAK2 V617F mutation frequency in our PMF patients was greater than in previous reports. | 0.294051045 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 16537803 | 3717 | JAK2 | umls:C0001815 | 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). | 0.294051045 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 17712047 | 3717 | JAK2 | umls:C0001815 | BeFree | JAK2 V617F mutational status predicts progression to large splenomegaly and leukemic transformation in primary myelofibrosis. | 0.294051045 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 20528738 | 3717 | JAK2 | umls:C0001815 | 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). | 0.294051045 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 16197445 | 57126 | CD177 | umls:C0001815 | BeFree | In order to explore the correlation between these two biological markers and compare their diagnostic utility, mutation analysis for JAK2(V617F) and quantitative measurement of granulocyte PRV-1 expression were performed on the same study sample from 100 participants: 38 with PV, 22 with essential thrombocythaemia (ET), 10 with agnogenic myeloid metaplasia (AMM), 19 with secondary polycythaemia (SP) and 11 healthy volunteers. | 0.001900093 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 18786436 | 3717 | JAK2 | umls:C0001815 | BeFree | Recurrent der(9;18) in essential thrombocythemia with JAK2 V617F is highly linked to myelofibrosis development. | 0.294051045 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 25259626 | 811 | CALR | umls:C0001815 | BeFree | The recent discovery of mutations within the CALR gene in up to 80% of JAK2 V617F-negative ET and PMF patients compels employment of CALR mutational analysis for the molecular diagnosis of these diseases. | 0.127328931 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 17875526 | 3717 | JAK2 | umls:C0026987 | BeFree | The gain-of-function JAK2 V617F mutation shifts the phenotype of essential thrombocythemia and chronic idiopathic myelofibrosis to more erythremic and less thrombocythemic: a molecular, histologic, and clinical study. | 0.22904428 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 16810609 | 4597 | MVD | umls:C0026987 | BeFree | Bone marrow histopathology in addition to clinical, laboratory, biological, and molecular markers, including the JAK2 V617 PCR test, serum EPO, PRV-1, EEC, LAP score, peripheral blood parameters, and spleen size on echogram will detect the early stages of MPD and allows diagnostic differentiation of the three primary MPDs (ET, PV, and CIMF) in both JAK2 V617F-positive and JAK2 wild-type MPD patients. | 0.001628651 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 19500139 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 18575049 | 3717 | JAK2 | umls:C0001815 | 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). | 0.294051045 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 20888389 | 3717 | JAK2 | umls:C0001815 | BeFree | Disease burden at the progenitor level is a feature of primary myelofibrosis: a multivariable analysis of 164 JAK2 V617F-positive myeloproliferative neoplasm patients. | 0.294051045 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 16810609 | 2056 | EPO | umls:C0001815 | BeFree | MPD-specific markers such as serum EPO, endogenous erythroid colony formation (EEC), and JAK2 V617F have high specificities, but the sensitivities are not high enough to detect the early stages of the MPDs, ET, PV, and prefibrotic CIMF. | 0.001085767 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 23537216 | 3717 | JAK2 | umls:C0001815 | BeFree | These standards were used in two JAK2 p.V617F assays, which were used to support clinical studies of ruxolitinib (Jakafi(®)) in myelofibrosis, a real-time polymerase chain reaction assay for initial screening of all samples, and a novel single-nucleotide polymorphism typing (SNaPshot)-based assay for samples with less than 5% mutant allele burden. | 0.294051045 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 16990584 | 8091 | HMGA2 | umls:C0001815 | BeFree | Abnormal expression of HMGA2 and CXCR4 in IM granulocytes was dependent on the presence and the mutational status of JAK2(V617F) mutation. | 0.00408156 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 21904853 | 54790 | TET2 | umls:C0001815 | 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. | 0.007719925 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 23313046 | 3717 | JAK2 | umls:C0001815 | BeFree | However, JAK2 inhibitors have limited ability to reduce JAK2 V617F allele burden or bone marrow fibrosis in humans. | 0.294051045 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 22041356 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 24856675 | 3717 | JAK2 | umls:C0026987 | BeFree | The discovery of the activating JAK2 V617F mutation in patients with myelofibrosis (MF) led to the development of JAK2 inhibitors. | 0.22904428 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 17961178 | 3717 | JAK2 | umls:C0027013 | BeFree | The present data suggests the JAK2 V617F allele burden as a key determinant of the degree of myeloproliferation and myeloid metaplasia reflected by significantly higher levels of white blood cell counts (WBC) (P = 0.03), CD34 counts (P = 0.03), lactate dehydrogenase and Polycythemia Rubra Vera gene 1 levels (P = 0.03 and P < 0.00001 respectively), as well as lower platelet counts (P = 0.02) and more cases of splenomegaly (P = 0.001) in homozygous PV patients compared to their heterozygous counterparts. | 0.001085767 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 22234689 | 6776 | STAT5A | umls:C0026987 | BeFree | JAK2(V617F) failed to induce polycythemia in recipients after deletion of Stat5a/b, although the loss of STAT5 did not prevent the development of myelofibrosis. | 0.001628651 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 19847199 | 3717 | JAK2 | umls:C0001815 | BeFree | JAK2 germline genetic variation affects disease susceptibility in primary myelofibrosis regardless of V617F mutational status: nullizygosity for the JAK2 46/1 haplotype is associated with inferior survival. | 0.294051045 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 22006129 | 3717 | JAK2 | umls:C0001815 | 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). | 0.294051045 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 16247455 | 3717 | JAK2 | umls:C0001815 | BeFree | A missense somatic mutation in JAK2 gene (JAK2 V617F) has recently been reported in chronic myeloproliferative disorders, including polycythemia vera, essential thrombocythemia and myelofibrosis with myeloid metaplasia, strongly suggesting its role in the pathogenesis of myeloid disorders. | 0.294051045 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 18723264 | 3717 | JAK2 | umls:C0001815 | BeFree | JAK2(WT) progenitors were present in ET and PV when the CD34(+) JAK2(V617F) allele burden was lower than the neutrophil allele burden, but not in PV and PMF subjects in whom the CD34(+) cell and neutrophil allele burdens were similar. | 0.294051045 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 23445613 | 3717 | JAK2 | umls:C0026987 | BeFree | Here, we show that treatment with the dual phosphoinositide-3-kinase (PI3K)/AKT and mTOR inhibitor BEZ235 attenuated PI3K/AKT and mTOR signaling, as well as induced cell-cycle growth arrest and apoptosis of the cultured human JAK2-V617F-expressing HEL92.1.7 (HEL), UKE1 cells, and primary CD34+ myelofibrosis (MF)-MPN cells. | 0.22904428 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 19605821 | 4597 | MVD | umls:C0026987 | BeFree | In this context, the distinctive role of a positive JAK2(V617F) mutation for the diagnosis of Ph- MPD was underscored, including entities with a low allele burden and the discrimination from reactive disorders (autoimmune myelofibrosis, reactive thrombocytosis). | 0.001628651 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 20197548 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 23445613 | 3717 | JAK2 | umls:C0001815 | BeFree | Here, we show that treatment with the dual phosphoinositide-3-kinase (PI3K)/AKT and mTOR inhibitor BEZ235 attenuated PI3K/AKT and mTOR signaling, as well as induced cell-cycle growth arrest and apoptosis of the cultured human JAK2-V617F-expressing HEL92.1.7 (HEL), UKE1 cells, and primary CD34+ myelofibrosis (MF)-MPN cells. | 0.294051045 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 19616600 | 3717 | JAK2 | umls:C0026987 | BeFree | PMF with different stages of myelofibrosis all yielded similar JAK2(V617F) allele burden. | 0.22904428 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 23130336 | 3717 | JAK2 | umls:C0026987 | BeFree | The JAK2 V617F mutational status and its allele burden correlate with the clinicohematologic phenotypes of ET patients, including older age, higher neutrophil count, and greater rates of organomegaly, thrombotic events, and myelofibrosis. | 0.22904428 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 20205617 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 19287382 | 3717 | JAK2 | umls:C0001815 | BeFree | We report here that JAK2(V617F)-associated disease is strongly associated with a specific constitutional JAK2 haplotype, designated 46/1, in all three disease entities compared to healthy controls (polycythemia vera, n = 192, P = 2.9 x 10(-16); essential thrombocythemia, n = 78, P = 8.2 x 10(-9) and myelofibrosis, n = 41, P = 8.0 x 10(-5)). | 0.294051045 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 18815196 | 3717 | JAK2 | umls:C0001815 | BeFree | There was a trend towards an association between SOCS3 methylation and lower SOCS3 expression in JAK2 V617F negative patients with idiopathic myelofibrosis but not in JAK2 V617F positive ones. | 0.294051045 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 21228032 | 3717 | JAK2 | umls:C0001815 | BeFree | Somatic mutations were detected in 33 of 221 patients (15%) with JAK2 (V617F)-negative essential thrombocythemia or primary myelofibrosis. | 0.294051045 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 25116092 | 4352 | MPL | umls:C0001815 | BeFree | Four main molecular types of clonal MPN can be distinguished: JAK2(V617F)-positive ET and PV; JAK2 wild-type ET carrying the MPL(515); mutations in the calreticulin (CALR) gene in JAK2/MPL wild-type ET and MF, and a small proportion of JAK2/MPL/CALR wild-type ET and MF patients. | 0.051407048 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 22364960 | 3717 | JAK2 | umls:C0001815 | BeFree | The presence of JAK2 V617F mutation is a cause of primary thrombocythemia and myelofibrosis in acromegaly. | 0.294051045 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 24951423 | 3717 | JAK2 | umls:C0026987 | BeFree | We investigated this question using conditional JAK2(V617F) knock-in mice with constitutive and inducible expression of JAK2(V617F) in hematopoietic cells, which develop a polycythemia vera (PV)-like disorder evolving into myelofibrosis. | 0.22904428 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 20331763 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 25870379 | 3717 | JAK2 | umls:C0001815 | BeFree | The classical Philadelphia chromosome-negative myeloproliferative neoplasms (MPN), which include essential thrombocythemia, polycythemia vera, and myelofibrosis (MF), are in a new era of molecular diagnosis, ushered in by the identification of the JAK2(V617F) and cMPL mutations in 2005 and 2006, respectively, and the CALR mutations in 2013. | 0.294051045 | 2016 | NA | NA | NA | NA | NA |
| rs386626619 | 16810614 | 3717 | JAK2 | umls:C0027013 | BeFree | Depending on the biological background of individual patients, heterozygous and homozygous JAK2 V617F ET/PV may preferentially induce myeloid metaplasia with myelofibrosis with a relative suppression of megakaryocytic and erythropoietic myeloproliferation leading to clinical pictures of fibrotic chronic idiopathic myelofibrosis (CIMF) or agnogenic myeloid metaplasia. | 0.001085767 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 19616600 | 4352 | MPL | umls:C0001815 | BeFree | Histopathological categories ET and prefibrotic PMF correlate with significant differences in mutant allelic burden of JAK2(V617F), but not of MPL(W515L) which, by contrast to JAK2(V617F), shows a higher percentage of mutated alleles in fibrotic than in prefibrotic cases. | 0.051407048 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 19965680 | 3717 | JAK2 | umls:C0001815 | BeFree | This study is the largest hitherto carried out in this setting and shows that the rate of major CV events in PMF is comparable with that reported in essential thrombocythemia, and it is increased in aged patients and those with JAK2 V617F mutation and leukocytosis. | 0.294051045 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 16871275 | 6774 | STAT3 | umls:C0026987 | BeFree | Janus kinase 2 (V617F) mutation status, signal transducer and activator of transcription-3 phosphorylation and impaired neutrophil apoptosis in myelofibrosis with myeloid metaplasia. | 0.000542884 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 16563504 | 3717 | JAK2 | umls:C0026987 | BeFree | JAK2(V617F) and leukemic transformation in myelofibrosis with myeloid metaplasia. | 0.22904428 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 25934766 | 3717 | JAK2 | umls:C0001815 | BeFree | This study revealed that CALR mutant essential thrombocythemia is associated with younger age, higher platelet counts, lower erythrocyte counts, leukocyte counts, hemoglobin, and hematocrit, and increased risk of progression to myelofibrosis in comparison with JAK2 V617F-positive essential thrombocythemia. | 0.294051045 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 22234689 | 6776 | STAT5A | umls:C0001815 | BeFree | JAK2(V617F) failed to induce polycythemia in recipients after deletion of Stat5a/b, although the loss of STAT5 did not prevent the development of myelofibrosis. | 0.002171535 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 17059429 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 16293880 | 3717 | JAK2 | umls:C0001815 | BeFree | The nature of the specific oncogenic mutation(s) is currently being unraveled with the recent discovery of an association between a somatic point mutation of JAK2 tyrosine kinase (V617F) and bcr/abl-negative myeloproliferative disorders, including MMM. | 0.294051045 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 17285276 | 25 | ABL1 | umls:C0001815 | 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. | 0.006243163 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 24475114 | 613 | BCR | umls:C0001815 | BeFree | Most cases of BCR-ABL1-negative myeloproliferative neoplasms (MPNs), essential thrombocythemia, polycythemia vera and primary myelofibrosis are associated with JAK2 (V617F) mutations. | 0.003528744 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 26228487 | 3717 | JAK2 | umls:C0026987 | 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). | 0.22904428 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 19167611 | 3717 | JAK2 | umls:C0001815 | BeFree | The frequency of JAK2 V617F mutation is about 90% in patients with PV, 50-60% in patients with essential thrombocythemia (ET), primary myelofibrosis (PMF), and less in patients with other myeloid neoplasms, while extremely rare in lymphoid malignancies. | 0.294051045 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 20422415 | 3717 | JAK2 | umls:C0001815 | BeFree | We genotyped 149 myeloproliferative neoplasms patients (69 had polycythemia vera, 65 had essential thrombocythemia, and 15 had primary myelofibrosis) with a known JAK2 V617F mutational status and 150 controls for the JAK2 rs10974944 (C/G) single nucleotide polymorphism, in which the G allele tags the 46/1 haplotype. | 0.294051045 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 24858412 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 22280409 | 53827 | FXYD5 | umls:C0001815 | BeFree | In conclusion, a simple model which includes: age, JAK2 V617F-status and constitutional symptoms can clearly separate distinct risk groups and can be used in addition to the Lille model to predict OS after RIC-ASCT for myelofibrosis. | 0.000271442 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 16810609 | 3717 | JAK2 | umls:C0001815 | BeFree | Bone marrow histopathology in addition to clinical, laboratory, biological, and molecular markers, including the JAK2 V617 PCR test, serum EPO, PRV-1, EEC, LAP score, peripheral blood parameters, and spleen size on echogram will detect the early stages of MPD and allows diagnostic differentiation of the three primary MPDs (ET, PV, and CIMF) in both JAK2 V617F-positive and JAK2 wild-type MPD patients. | 0.294051045 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 22555824 | 3717 | JAK2 | umls:C0001815 | BeFree | It is now a well recognized fact that the JAK2 (V617F) mutation occurs in majority of the patients with polycythaemia vera (PV) and half of those with myelofibrosis and essential thrombocythaemia. | 0.294051045 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 17961178 | 3717 | JAK2 | umls:C0001815 | BeFree | The JAK2 V617F allele burden in essential thrombocythemia, polycythemia vera and primary myelofibrosis--impact on disease phenotype. | 0.294051045 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 20587663 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 19277418 | 3717 | JAK2 | umls:C0001815 | BeFree | JAK2 V617F was detected in 89 (61%) patients with ET, 103 (86%) with PV, four (33%) with myelofibrosis, and four (80%) with MPNu. | 0.294051045 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 23537216 | 3717 | JAK2 | umls:C0026987 | BeFree | These standards were used in two JAK2 p.V617F assays, which were used to support clinical studies of ruxolitinib (Jakafi(®)) in myelofibrosis, a real-time polymerase chain reaction assay for initial screening of all samples, and a novel single-nucleotide polymorphism typing (SNaPshot)-based assay for samples with less than 5% mutant allele burden. | 0.22904428 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 17255768 | 3717 | JAK2 | umls:C0001815 | BeFree | The frequency of the JAK2 V617F was 73% (85% in PV, 65% in ET, and 65% in CIMF). | 0.294051045 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 20339092 | 3717 | JAK2 | umls:C0001815 | BeFree | AML1 mRNA expression was elevated in patients with PV, essential thrombocythemia, and primary myelofibrosis both in the presence and absence of JAK2(V617F). | 0.294051045 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 20888389 | 3717 | JAK2 | umls:C0026987 | 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. | 0.22904428 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 16210033 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 22333011 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 17133423 | 3717 | JAK2 | umls:C0026987 | BeFree | Clearance of the Janus kinase 2 (JAK2) V617F mutation after allogeneic stem cell transplantation in a patient with myelofibrosis with myeloid metaplasia. | 0.22904428 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 21904853 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 17018857 | 3717 | JAK2 | umls:C0001815 | BeFree | Monitoring of the JAK2-V617F mutation by highly sensitive quantitative real-time PCR after allogeneic stem cell transplantation in patients with myelofibrosis. | 0.294051045 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 19287382 | 3717 | JAK2 | umls:C0026987 | BeFree | We report here that JAK2(V617F)-associated disease is strongly associated with a specific constitutional JAK2 haplotype, designated 46/1, in all three disease entities compared to healthy controls (polycythemia vera, n = 192, P = 2.9 x 10(-16); essential thrombocythemia, n = 78, P = 8.2 x 10(-9) and myelofibrosis, n = 41, P = 8.0 x 10(-5)). | 0.22904428 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 21082983 | 3717 | JAK2 | umls:C0001815 | BeFree | However, the molecular basis of JAK2 V617F-negative essential thrombocythemia and primary myelofibrosis remains largely unexplained. | 0.294051045 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 16373657 | 3717 | JAK2 | umls:C0026987 | BeFree | In polycythemia vera, JAK2 (V617F) was detected in 23 of 25 subjects at diagnosis and in 16 of 16 patients whose disease had evolved into myelofibrosis; median percentages of mutant alleles in these subgroups were significantly different (32% versus 95%, P < .001). | 0.22904428 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 17875526 | 3717 | JAK2 | umls:C0001815 | BeFree | The gain-of-function JAK2 V617F mutation shifts the phenotype of essential thrombocythemia and chronic idiopathic myelofibrosis to more erythremic and less thrombocythemic: a molecular, histologic, and clinical study. | 0.294051045 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 17961178 | 947 | CD34 | umls:C0027013 | BeFree | The present data suggests the JAK2 V617F allele burden as a key determinant of the degree of myeloproliferation and myeloid metaplasia reflected by significantly higher levels of white blood cell counts (WBC) (P = 0.03), CD34 counts (P = 0.03), lactate dehydrogenase and Polycythemia Rubra Vera gene 1 levels (P = 0.03 and P < 0.00001 respectively), as well as lower platelet counts (P = 0.02) and more cases of splenomegaly (P = 0.001) in homozygous PV patients compared to their heterozygous counterparts. | 0.000542884 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 16532437 | 3717 | JAK2 | umls:C0001815 | BeFree | Respective clustering of unfavorable and favorable cytogenetic clones in myelofibrosis with myeloid metaplasia with homozygosity for JAK2(V617F) and response to erythropoietin therapy. | 0.294051045 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 25934766 | 811 | CALR | umls:C0026987 | BeFree | This study revealed that CALR mutant essential thrombocythemia is associated with younger age, higher platelet counts, lower erythrocyte counts, leukocyte counts, hemoglobin, and hematocrit, and increased risk of progression to myelofibrosis in comparison with JAK2 V617F-positive essential thrombocythemia. | 0.121628651 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 21904853 | 3418 | IDH2 | umls:C0001815 | 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 | 20859081 | 3717 | JAK2 | umls:C0026987 | BeFree | Cutaneous myelofibrosis with JAK2 V617F mutation: metastasis, not merely extramedullary hematopoiesis! | 0.22904428 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 25617626 | 3717 | JAK2 | umls:C0001815 | BeFree | JAK2 exon 14 skipping in patients with primary myelofibrosis: a minor splice variant modulated by the JAK2-V617F allele burden. | 0.294051045 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 16810614 | 3717 | JAK2 | umls:C0001815 | BeFree | JAK2 V617F-positive ET/PV and CIMF should be distinguished from wild-type JAK2 ET, rare cases of PV, and CIMF, and should be evaluated during life-long follow-up. | 0.294051045 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 25934766 | 811 | CALR | umls:C0001815 | BeFree | This study revealed that CALR mutant essential thrombocythemia is associated with younger age, higher platelet counts, lower erythrocyte counts, leukocyte counts, hemoglobin, and hematocrit, and increased risk of progression to myelofibrosis in comparison with JAK2 V617F-positive essential thrombocythemia. | 0.127328931 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 20560681 | 25 | ABL1 | umls:C0001815 | 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. | 0.006243163 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 23666689 | 3717 | JAK2 | umls:C0001815 | 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). | 0.294051045 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 22041374 | 3717 | JAK2 | umls:C0001815 | 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). | 0.294051045 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 18769448 | 25 | ABL1 | umls:C0001815 | 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. | 0.006243163 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 18048969 | 3717 | JAK2 | umls:C0001815 | BeFree | The recently identified JAK2(V617F) mutation is frequently present in the classic CMPDs polycythemia vera, essential thrombocythemia, and chronic idiopathic myelofibrosis. | 0.294051045 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 24475114 | 25 | ABL1 | umls:C0001815 | BeFree | Most cases of BCR-ABL1-negative myeloproliferative neoplasms (MPNs), essential thrombocythemia, polycythemia vera and primary myelofibrosis are associated with JAK2 (V617F) mutations. | 0.006243163 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 22280409 | 3717 | JAK2 | umls:C0001815 | BeFree | In conclusion, a simple model which includes: age, JAK2 V617F-status and constitutional symptoms can clearly separate distinct risk groups and can be used in addition to the Lille model to predict OS after RIC-ASCT for myelofibrosis. | 0.294051045 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 17133423 | 3717 | JAK2 | umls:C0001815 | BeFree | Clearance of the Janus kinase 2 (JAK2) V617F mutation after allogeneic stem cell transplantation in a patient with myelofibrosis with myeloid metaplasia. | 0.294051045 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 22300941 | 57126 | CD177 | umls:C0001815 | BeFree | Deregulation of apoptosis-related genes is associated with PRV1 overexpression and JAK2 V617F allele burden in Essential Thrombocythemia and Myelofibrosis. | 0.001900093 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 16531268 | 3717 | JAK2 | umls:C0001815 | BeFree | A longitudinal study of the JAK2(V617F) mutation in myelofibrosis with myeloid metaplasia: analysis at two time points. | 0.294051045 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 19877761 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 23445613 | 6776 | STAT5A | umls:C0001815 | BeFree | Hemopoietic progenitor cells (HPC) from myeloproliferative neoplasms (MPN) such as myelofibrosis commonly express mutant JAK2-V617F or other mutations that are associated with increased activities of JAK-STAT5/3, RAS/RAF/MAPK, and PI3K/AKT/mTOR pathways. | 0.002171535 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 25116092 | 811 | CALR | umls:C0001815 | BeFree | Four main molecular types of clonal MPN can be distinguished: JAK2(V617F)-positive ET and PV; JAK2 wild-type ET carrying the MPL(515); mutations in the calreticulin (CALR) gene in JAK2/MPL wild-type ET and MF, and a small proportion of JAK2/MPL/CALR wild-type ET and MF patients. | 0.127328931 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 22333011 | 3717 | JAK2 | umls:C0026987 | 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. | 0.22904428 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 20339092 | 4778 | NFE2 | umls:C0001815 | BeFree | Here we show that NF-E2 expression is also increased in patients with essential thrombocythemia and primary myelofibrosis independent of the presence of the JAK2(V617F) mutation. | 0.000542884 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 22234689 | 3717 | JAK2 | umls:C0001815 | BeFree | JAK2(V617F) failed to induce polycythemia in recipients after deletion of Stat5a/b, although the loss of STAT5 did not prevent the development of myelofibrosis. | 0.294051045 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 24957246 | 3717 | JAK2 | umls:C0001815 | BeFree | Patients with JAK2 V617F-positive MPN have a heterogeneous histology while CALR-positive ET is associated with megakaryocyte abnormalities and prefibrotic PMF. | 0.294051045 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 16919893 | 57126 | CD177 | umls:C0001815 | BeFree | The use of biological markers including JAK2 V617 PCR test, serum EPO, PRV-1, EEC, leukocyte alkaline phosphatase score and peripheral blood parameters combined with bone marrow histopathology has a high sensitivity and specificity (almost 100%) to diagnose the early and overt stages of ET, PV and CIMF in JAK2 V617F positive and negative MPDs. | 0.001900093 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 23313046 | 3717 | JAK2 | umls:C0026987 | BeFree | However, JAK2 inhibitors have limited ability to reduce JAK2 V617F allele burden or bone marrow fibrosis in humans. | 0.22904428 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 17296581 | 3717 | JAK2 | umls:C0026987 | BeFree | An acquired JAK2 (V617F)mutation has been found in myeloid cells from most patients with chronic idiopathic myelofibrosis (IM), but whether it occurs in a common myelo-lymphoid, rather than a myeloid-restricted, progenitor cell is still debated. | 0.22904428 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 16990584 | 3717 | JAK2 | umls:C0001815 | BeFree | Abnormal expression of HMGA2 and CXCR4 in IM granulocytes was dependent on the presence and the mutational status of JAK2(V617F) mutation. | 0.294051045 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 18612778 | 4597 | MVD | umls:C0026987 | BeFree | Using novel mutation-specific PCR which is a highly sensitive PCR-based assay for detection of JAK2 mutated allele(s), we identified V617F in 38 Ph-MPD, which include 13 polycythemia vera (PV), 23 essential thrombocythemia (ET) and 2 chronic idiopatic myelofibrosis. | 0.001628651 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 18300758 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 16532437 | 2056 | EPO | umls:C0001815 | BeFree | Respective clustering of unfavorable and favorable cytogenetic clones in myelofibrosis with myeloid metaplasia with homozygosity for JAK2(V617F) and response to erythropoietin therapy. | 0.001085767 | 2006 | NA | NA | NA | NA | NA |
| rs587776885 | NA | 10019 | SH2B3 | umls:C0001815 | CLINVAR | NA | 0.12 | NA | SH2B3 | 12 | 111418748 | GCGCT | - |
| rs7046736 | 18006699 | 3717 | JAK2 | umls:C0001815 | BeFree | Genotype-phenotype analysis showed 3 JAK2 SNPs (rs7046736, rs10815148, and rs12342421) to be significantly but reciprocally associated with PV (P < .001 for all; odds ratio = 0.16, 2.72, and 2.46, respectively) and ET (P < .001 for all; odds ratio = 3.05, 0.29, and 0.30, respectively) but not with PMF. | 0.294051045 | 2008 | JAK2;INSL6 | 9 | 5015732 | C | A |
| rs77375493 | 16871275 | 3717 | JAK2 | umls:C0026987 | BeFree | Janus kinase 2 (V617F) mutation status, signal transducer and activator of transcription-3 phosphorylation and impaired neutrophil apoptosis in myelofibrosis with myeloid metaplasia. | 0.22904428 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17018857 | 3717 | JAK2 | umls:C0001815 | BeFree | Monitoring of the JAK2-V617F mutation by highly sensitive quantitative real-time PCR after allogeneic stem cell transplantation in patients with myelofibrosis. | 0.294051045 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23445613 | 6777 | STAT5B | umls:C0026987 | BeFree | Hemopoietic progenitor cells (HPC) from myeloproliferative neoplasms (MPN) such as myelofibrosis commonly express mutant JAK2-V617F or other mutations that are associated with increased activities of JAK-STAT5/3, RAS/RAF/MAPK, and PI3K/AKT/mTOR pathways. | 0.001628651 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19277418 | 3717 | JAK2 | umls:C0001815 | BeFree | JAK2 V617F was detected in 89 (61%) patients with ET, 103 (86%) with PV, four (33%) with myelofibrosis, and four (80%) with MPNu. | 0.294051045 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17296581 | 3717 | JAK2 | umls:C0026987 | BeFree | An acquired JAK2 (V617F)mutation has been found in myeloid cells from most patients with chronic idiopathic myelofibrosis (IM), but whether it occurs in a common myelo-lymphoid, rather than a myeloid-restricted, progenitor cell is still debated. | 0.22904428 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 24811089 | 3717 | JAK2 | umls:C0001815 | BeFree | JAK2 V617F mutation frequency in our PMF patients was greater than in previous reports. | 0.294051045 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18612778 | 4597 | MVD | umls:C0026987 | BeFree | Using novel mutation-specific PCR which is a highly sensitive PCR-based assay for detection of JAK2 mutated allele(s), we identified V617F in 38 Ph-MPD, which include 13 polycythemia vera (PV), 23 essential thrombocythemia (ET) and 2 chronic idiopatic myelofibrosis. | 0.001628651 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 24957246 | 83886 | PRSS27 | umls:C0001815 | BeFree | Patients with JAK2 V617F-positive MPN have a heterogeneous histology while CALR-positive ET is associated with megakaryocyte abnormalities and prefibrotic PMF. | 0.003528744 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16871275 | 3717 | JAK2 | umls:C0001815 | BeFree | Janus kinase 2 (V617F) mutation status, signal transducer and activator of transcription-3 phosphorylation and impaired neutrophil apoptosis in myelofibrosis with myeloid metaplasia. | 0.294051045 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22304488 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25870379 | 811 | CALR | umls:C0026987 | BeFree | The classical Philadelphia chromosome-negative myeloproliferative neoplasms (MPN), which include essential thrombocythemia, polycythemia vera, and myelofibrosis (MF), are in a new era of molecular diagnosis, ushered in by the identification of the JAK2(V617F) and cMPL mutations in 2005 and 2006, respectively, and the CALR mutations in 2013. | 0.121628651 | 2016 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16810609 | 2056 | EPO | umls:C0001815 | BeFree | MPD-specific markers such as serum EPO, endogenous erythroid colony formation (EEC), and JAK2 V617F have high specificities, but the sensitivities are not high enough to detect the early stages of the MPDs, ET, PV, and prefibrotic CIMF. | 0.001085767 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17317861 | 3717 | JAK2 | umls:C0001815 | BeFree | The somatic JAK2 valine-to-phenylalanine (V617F) mutation has been detected in up to 90% of patients with polycythemia and in a sizeable proportion of patients with other myeloproliferative disorders such as essential thrombocythemia and idiopathic myelofibrosis. | 0.294051045 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22555824 | 3717 | JAK2 | umls:C0026987 | BeFree | It is now a well recognized fact that the JAK2 (V617F) mutation occurs in majority of the patients with polycythaemia vera (PV) and half of those with myelofibrosis and essential thrombocythaemia. | 0.22904428 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18786436 | 3717 | JAK2 | umls:C0001815 | BeFree | Recurrent der(9;18) in essential thrombocythemia with JAK2 V617F is highly linked to myelofibrosis development. | 0.294051045 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19643476 | 3717 | JAK2 | umls:C0001815 | BeFree | We report three novel mutations in JAK2 exons 12, 19 and 25 in V617F-negative patients with polycythemia vera, essential thrombocythemia and idiopathic myelofibrosis. | 0.294051045 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22300941 | 57126 | CD177 | umls:C0026987 | BeFree | Deregulation of apoptosis-related genes is associated with PRV1 overexpression and JAK2 V617F allele burden in Essential Thrombocythemia and Myelofibrosis. | 0.001357209 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16919893 | 2056 | EPO | umls:C0026987 | BeFree | The use of biological markers including JAK2 V617 PCR test, serum EPO, PRV-1, EEC, leukocyte alkaline phosphatase score and peripheral blood parameters combined with bone marrow histopathology has a high sensitivity and specificity (almost 100%) to diagnose the early and overt stages of ET, PV and CIMF in JAK2 V617F positive and negative MPDs. | 0.001085767 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25746303 | 3717 | JAK2 | umls:C0001815 | BeFree | Frequency and allele burden of CALR mutations in Chinese with essential thrombocythemia and primary myelofibrosis without JAK2(V617F) or MPL mutations. | 0.294051045 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25934766 | 3717 | JAK2 | umls:C0001815 | BeFree | This study revealed that CALR mutant essential thrombocythemia is associated with younger age, higher platelet counts, lower erythrocyte counts, leukocyte counts, hemoglobin, and hematocrit, and increased risk of progression to myelofibrosis in comparison with JAK2 V617F-positive essential thrombocythemia. | 0.294051045 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17587878 | 3717 | JAK2 | umls:C0001815 | BeFree | Megakaryocytes are homozygous in the majority of fibrotic CIMF and PV, whereas JAK2(V617F) heterozygosity is predominantly encountered in prefibrotic CIMF and essential thrombocythaemia but transition from hetero- to homozygosity with onset of fibrosis is rare. | 0.294051045 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16563504 | 3717 | JAK2 | umls:C0001815 | BeFree | JAK2(V617F) and leukemic transformation in myelofibrosis with myeloid metaplasia. | 0.294051045 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16532437 | 3717 | JAK2 | umls:C0001815 | BeFree | Respective clustering of unfavorable and favorable cytogenetic clones in myelofibrosis with myeloid metaplasia with homozygosity for JAK2(V617F) and response to erythropoietin therapy. | 0.294051045 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22234689 | 6776 | STAT5A | umls:C0001815 | BeFree | JAK2(V617F) failed to induce polycythemia in recipients after deletion of Stat5a/b, although the loss of STAT5 did not prevent the development of myelofibrosis. | 0.002171535 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25870379 | 811 | CALR | umls:C0001815 | BeFree | The classical Philadelphia chromosome-negative myeloproliferative neoplasms (MPN), which include essential thrombocythemia, polycythemia vera, and myelofibrosis (MF), are in a new era of molecular diagnosis, ushered in by the identification of the JAK2(V617F) and cMPL mutations in 2005 and 2006, respectively, and the CALR mutations in 2013. | 0.127328931 | 2016 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22300941 | 57126 | CD177 | umls:C0001815 | BeFree | Deregulation of apoptosis-related genes is associated with PRV1 overexpression and JAK2 V617F allele burden in Essential Thrombocythemia and Myelofibrosis. | 0.001900093 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16225651 | 3717 | JAK2 | umls:C0026987 | BeFree | The JAK2(V617F) tyrosine kinase mutation in myelofibrosis with myeloid metaplasia: lineage specificity and clinical correlates. | 0.22904428 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18336541 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17183644 | 3717 | JAK2 | umls:C0026987 | BeFree | A somatic activating mutation (V617F) in the JAK2 tyrosine kinase was recently discovered in the majority of patients with polycythemia vera (PV), and some with essential thrombocythemia (ET) and chronic idiopathic myelofibrosis. | 0.22904428 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16293597 | 3717 | JAK2 | umls:C0001815 | BeFree | V617F mutation in JAK2 is associated with poorer survival in idiopathic myelofibrosis. | 0.294051045 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16210034 | 3717 | JAK2 | umls:C0001815 | BeFree | However, it is very clear that some patients with classical PV lack the JAK2 V617F mutation, while some patients with other chronic myeloproliferative disorders such as idiopathic myelofibrosis (IMF) and essential thrombocytosis (ET) also express the JAK2 V617F mutation. | 0.294051045 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16537803 | 3717 | JAK2 | umls:C0001815 | 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). | 0.294051045 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25870379 | 3717 | JAK2 | umls:C0026987 | BeFree | The classical Philadelphia chromosome-negative myeloproliferative neoplasms (MPN), which include essential thrombocythemia, polycythemia vera, and myelofibrosis (MF), are in a new era of molecular diagnosis, ushered in by the identification of the JAK2(V617F) and cMPL mutations in 2005 and 2006, respectively, and the CALR mutations in 2013. | 0.22904428 | 2016 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16810609 | 3717 | JAK2 | umls:C0001815 | BeFree | Bone marrow histopathology in addition to clinical, laboratory, biological, and molecular markers, including the JAK2 V617 PCR test, serum EPO, PRV-1, EEC, LAP score, peripheral blood parameters, and spleen size on echogram will detect the early stages of MPD and allows diagnostic differentiation of the three primary MPDs (ET, PV, and CIMF) in both JAK2 V617F-positive and JAK2 wild-type MPD patients. | 0.294051045 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17875526 | 3717 | JAK2 | umls:C0001815 | BeFree | The gain-of-function JAK2 V617F mutation shifts the phenotype of essential thrombocythemia and chronic idiopathic myelofibrosis to more erythremic and less thrombocythemic: a molecular, histologic, and clinical study. | 0.294051045 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16247455 | 3717 | JAK2 | umls:C0026987 | BeFree | A missense somatic mutation in JAK2 gene (JAK2 V617F) has recently been reported in chronic myeloproliferative disorders, including polycythemia vera, essential thrombocythemia and myelofibrosis with myeloid metaplasia, strongly suggesting its role in the pathogenesis of myeloid disorders. | 0.22904428 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23209034 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16532437 | 2056 | EPO | umls:C0026987 | BeFree | Respective clustering of unfavorable and favorable cytogenetic clones in myelofibrosis with myeloid metaplasia with homozygosity for JAK2(V617F) and response to erythropoietin therapy. | 0.001085767 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 15781101 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19287382 | 3717 | JAK2 | umls:C0026987 | BeFree | We report here that JAK2(V617F)-associated disease is strongly associated with a specific constitutional JAK2 haplotype, designated 46/1, in all three disease entities compared to healthy controls (polycythemia vera, n = 192, P = 2.9 x 10(-16); essential thrombocythemia, n = 78, P = 8.2 x 10(-9) and myelofibrosis, n = 41, P = 8.0 x 10(-5)). | 0.22904428 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20560681 | 25 | ABL1 | umls:C0001815 | 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. | 0.006243163 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 24957246 | 3717 | JAK2 | umls:C0001815 | BeFree | Patients with JAK2 V617F-positive MPN have a heterogeneous histology while CALR-positive ET is associated with megakaryocyte abnormalities and prefibrotic PMF. | 0.294051045 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16325696 | 3717 | JAK2 | umls:C0001815 | BeFree | An acquired V617F mutation in JAK2 occurs in most patients with polycythaemia vera, but is seen in only half those with essential thrombocythaemia and idiopathic myelofibrosis. | 0.294051045 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16210033 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23391844 | 3717 | JAK2 | umls:C0001815 | BeFree | The JAK2 V617F mutation has been detected in patients with classical myeloproliferative disorders (MPD) including polycythemia vera and essential thrombocythemia and idiopathic myelofibrosis. | 0.294051045 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21082983 | 3717 | JAK2 | umls:C0001815 | BeFree | However, the molecular basis of JAK2 V617F-negative essential thrombocythemia and primary myelofibrosis remains largely unexplained. | 0.294051045 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19287384 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17266061 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17565328 | 3717 | JAK2 | umls:C0001815 | BeFree | Use of the activating gene mutation of the tyrosine kinase (VAL617Phe) JAK2 as a minimal residual disease marker in patients with myelofibrosis and myeloid metaplasia after allogeneic stem cell transplantation. | 0.294051045 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16197445 | 3717 | JAK2 | umls:C0001815 | BeFree | In order to explore the correlation between these two biological markers and compare their diagnostic utility, mutation analysis for JAK2(V617F) and quantitative measurement of granulocyte PRV-1 expression were performed on the same study sample from 100 participants: 38 with PV, 22 with essential thrombocythaemia (ET), 10 with agnogenic myeloid metaplasia (AMM), 19 with secondary polycythaemia (SP) and 11 healthy volunteers. | 0.294051045 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19941738 | 3717 | JAK2 | umls:C0001815 | BeFree | JAK2 V617F distribution was PV 40/45 (89%), ET 30/43 (69%), and IMF 7/15 (47%). | 0.294051045 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 24895336 | 4352 | MPL | umls:C0001815 | BeFree | In essential thrombocythemia, 154 (53%) Janus kinase 2 V617F, 96 (33%) calreticulin, 9 (3%) myeloproliferative leukemia virus oncogene gene mutation-positive and 30 triple-negative (11%) cases were identified, while in primary myelofibrosis 56 (57%) Janus kinase 2 V617F, 25 (25%) calreticulin, 7 (7%) myeloproliferative leukemia virus oncogene gene mutation-positive and 11 (11%) triple-negative cases were identified. | 0.051407048 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22041374 | 3717 | JAK2 | umls:C0001815 | 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). | 0.294051045 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23130336 | 3717 | JAK2 | umls:C0026987 | BeFree | The JAK2 V617F mutational status and its allele burden correlate with the clinicohematologic phenotypes of ET patients, including older age, higher neutrophil count, and greater rates of organomegaly, thrombotic events, and myelofibrosis. | 0.22904428 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23644853 | 3717 | JAK2 | umls:C0001815 | BeFree | To evaluate whether risk scores used to classify patients with primary myelofibrosis and JAK-2 V617F mutation status can predict clinical outcome. | 0.294051045 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16919893 | 3717 | JAK2 | umls:C0026987 | BeFree | The use of biological markers including JAK2 V617 PCR test, serum EPO, PRV-1, EEC, leukocyte alkaline phosphatase score and peripheral blood parameters combined with bone marrow histopathology has a high sensitivity and specificity (almost 100%) to diagnose the early and overt stages of ET, PV and CIMF in JAK2 V617F positive and negative MPDs. | 0.22904428 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23445613 | 3717 | JAK2 | umls:C0026987 | BeFree | Here, we show that treatment with the dual phosphoinositide-3-kinase (PI3K)/AKT and mTOR inhibitor BEZ235 attenuated PI3K/AKT and mTOR signaling, as well as induced cell-cycle growth arrest and apoptosis of the cultured human JAK2-V617F-expressing HEL92.1.7 (HEL), UKE1 cells, and primary CD34+ myelofibrosis (MF)-MPN cells. | 0.22904428 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17183644 | 3717 | JAK2 | umls:C0001815 | BeFree | A somatic activating mutation (V617F) in the JAK2 tyrosine kinase was recently discovered in the majority of patients with polycythemia vera (PV), and some with essential thrombocythemia (ET) and chronic idiopathic myelofibrosis. | 0.294051045 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17285276 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23057517 | 4352 | MPL | umls:C0026987 | BeFree | Given their diagnostic relevance, it is also beneficial and relatively straightforward to screen JAK2 V617F negative patients for JAK2 exon 12 mutations (in the case of erythrocytosis) or MPL exon 10 mutations (thrombocytosis or myelofibrosis) using appropriate assays. | 0.363528744 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 24186132 | 3717 | JAK2 | umls:C0001815 | BeFree | JAK2 V617F mutations were detected in 6 of the 28 patients with bone marrow fibrosis presenting at the time of diagnosis and 2 of the 7 patients with bone marrow fibrosis developing in the course of disease, significantly higher than the control group patients. | 0.294051045 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19500139 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23445613 | 947 | CD34 | umls:C0001815 | BeFree | Here, we show that treatment with the dual phosphoinositide-3-kinase (PI3K)/AKT and mTOR inhibitor BEZ235 attenuated PI3K/AKT and mTOR signaling, as well as induced cell-cycle growth arrest and apoptosis of the cultured human JAK2-V617F-expressing HEL92.1.7 (HEL), UKE1 cells, and primary CD34+ myelofibrosis (MF)-MPN cells. | 0.009238955 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22818858 | 3717 | JAK2 | umls:C0026987 | BeFree | There was a trend toward a more frequent evolution to myelofibrosis when the JAK2(V617F) mutated allele burden was >50% (p=0.09), but not to AML. | 0.22904428 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17178722 | 3717 | JAK2 | umls:C0001815 | BeFree | JAK2(V617F), a mutant of tyrosine kinase JAK2, is found in most patients with polycythemia vera (PV) and a substantial proportion of patients with idiopathic myelofibrosis or essential thrombocythemia. | 0.294051045 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25912019 | 3717 | JAK2 | umls:C0001815 | BeFree | Activation of Janus kinase 2 (JAK2), frequently as a result of the JAK2(V617F) mutation, is a characteristic feature of the classical myeloproliferative neoplasms (MPNs) polycythemia vera, essential thrombocythemia, and myelofibrosis, and it is thought to be responsible for the constitutional symptoms associated with these diseases. | 0.294051045 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16919893 | 3717 | JAK2 | umls:C0001815 | BeFree | The use of biological markers including JAK2 V617 PCR test, serum EPO, PRV-1, EEC, leukocyte alkaline phosphatase score and peripheral blood parameters combined with bone marrow histopathology has a high sensitivity and specificity (almost 100%) to diagnose the early and overt stages of ET, PV and CIMF in JAK2 V617F positive and negative MPDs. | 0.294051045 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21228032 | 3717 | JAK2 | umls:C0001815 | BeFree | Somatic mutations were detected in 33 of 221 patients (15%) with JAK2 (V617F)-negative essential thrombocythemia or primary myelofibrosis. | 0.294051045 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18769448 | 3717 | JAK2 | umls:C0001815 | BeFree | In bone marrow reconstitution models based on retroviral transduction, the phenotype induced by JAK2 V617F is less severe and different from the rapid fatal myelofibrosis induced by TpoR W515L. | 0.294051045 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17059429 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19287382 | 3717 | JAK2 | umls:C0001815 | BeFree | We report here that JAK2(V617F)-associated disease is strongly associated with a specific constitutional JAK2 haplotype, designated 46/1, in all three disease entities compared to healthy controls (polycythemia vera, n = 192, P = 2.9 x 10(-16); essential thrombocythemia, n = 78, P = 8.2 x 10(-9) and myelofibrosis, n = 41, P = 8.0 x 10(-5)). | 0.294051045 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16532437 | 3717 | JAK2 | umls:C0026987 | BeFree | Respective clustering of unfavorable and favorable cytogenetic clones in myelofibrosis with myeloid metaplasia with homozygosity for JAK2(V617F) and response to erythropoietin therapy. | 0.22904428 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 24475114 | 3717 | JAK2 | umls:C0001815 | BeFree | Most cases of BCR-ABL1-negative myeloproliferative neoplasms (MPNs), essential thrombocythemia, polycythemia vera and primary myelofibrosis are associated with JAK2 (V617F) mutations. | 0.294051045 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19605821 | 4597 | MVD | umls:C0001815 | BeFree | In this context, the distinctive role of a positive JAK2(V617F) mutation for the diagnosis of Ph- MPD was underscored, including entities with a low allele burden and the discrimination from reactive disorders (autoimmune myelofibrosis, reactive thrombocytosis). | 0.002442977 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16537803 | 3717 | JAK2 | umls:C0026987 | 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). | 0.22904428 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25259626 | 3717 | JAK2 | umls:C0001815 | 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). | 0.294051045 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19605821 | 4597 | MVD | umls:C0026987 | BeFree | In this context, the distinctive role of a positive JAK2(V617F) mutation for the diagnosis of Ph- MPD was underscored, including entities with a low allele burden and the discrimination from reactive disorders (autoimmune myelofibrosis, reactive thrombocytosis). | 0.001628651 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23057517 | 3717 | JAK2 | umls:C0026987 | BeFree | Given their diagnostic relevance, it is also beneficial and relatively straightforward to screen JAK2 V617F negative patients for JAK2 exon 12 mutations (in the case of erythrocytosis) or MPL exon 10 mutations (thrombocytosis or myelofibrosis) using appropriate assays. | 0.22904428 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19616600 | 3717 | JAK2 | umls:C0001815 | BeFree | Thus, for Ph(-) MPN in which ET and prefibrotic PMF represent the most probable diagnoses, a JAK2(V617F) allele burden >50% favors a diagnosis of prefibrotic PMF. | 0.294051045 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25116092 | 3717 | JAK2 | umls:C0001815 | BeFree | Four main molecular types of clonal MPN can be distinguished: JAK2(V617F)-positive ET and PV; JAK2 wild-type ET carrying the MPL(515); mutations in the calreticulin (CALR) gene in JAK2/MPL wild-type ET and MF, and a small proportion of JAK2/MPL/CALR wild-type ET and MF patients. | 0.294051045 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17285276 | 25 | ABL1 | umls:C0001815 | 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. | 0.006243163 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16810614 | 3717 | JAK2 | umls:C0027013 | BeFree | Depending on the biological background of individual patients, heterozygous and homozygous JAK2 V617F ET/PV may preferentially induce myeloid metaplasia with myelofibrosis with a relative suppression of megakaryocytic and erythropoietic myeloproliferation leading to clinical pictures of fibrotic chronic idiopathic myelofibrosis (CIMF) or agnogenic myeloid metaplasia. | 0.001085767 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23116358 | 3717 | JAK2 | umls:C0001815 | BeFree | The JAK2 V617F somatic mutation is present in the majority of patients with myeloproliferative cancer (polycythaemia vera, essential thrombocytosis, and primary myelofibrosis). | 0.294051045 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21904853 | 3417 | IDH1 | umls:C0001815 | 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. | 0.003724241 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23555782 | 3717 | JAK2 | umls:C0001815 | BeFree | JAK2 V617F genotype is a strong determinant of blast transformation in primary myelofibrosis. | 0.294051045 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16990584 | 3717 | JAK2 | umls:C0001815 | BeFree | Abnormal expression of HMGA2 and CXCR4 in IM granulocytes was dependent on the presence and the mutational status of JAK2(V617F) mutation. | 0.294051045 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 26228487 | 3717 | JAK2 | umls:C0026987 | 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). | 0.22904428 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 24856675 | 3717 | JAK2 | umls:C0001815 | BeFree | The discovery of the activating JAK2 V617F mutation in patients with myelofibrosis (MF) led to the development of JAK2 inhibitors. | 0.294051045 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16810609 | 4597 | MVD | umls:C0026987 | BeFree | Bone marrow histopathology in addition to clinical, laboratory, biological, and molecular markers, including the JAK2 V617 PCR test, serum EPO, PRV-1, EEC, LAP score, peripheral blood parameters, and spleen size on echogram will detect the early stages of MPD and allows diagnostic differentiation of the three primary MPDs (ET, PV, and CIMF) in both JAK2 V617F-positive and JAK2 wild-type MPD patients. | 0.001628651 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17712047 | 3717 | JAK2 | umls:C0001815 | BeFree | JAK2 V617F mutational status predicts progression to large splenomegaly and leukemic transformation in primary myelofibrosis. | 0.294051045 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16293880 | 3717 | JAK2 | umls:C0026987 | BeFree | The nature of the specific oncogenic mutation(s) is currently being unraveled with the recent discovery of an association between a somatic point mutation of JAK2 tyrosine kinase (V617F) and bcr/abl-negative myeloproliferative disorders, including MMM. | 0.22904428 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23130336 | 3717 | JAK2 | umls:C0001815 | BeFree | The JAK2 V617F mutational status and its allele burden correlate with the clinicohematologic phenotypes of ET patients, including older age, higher neutrophil count, and greater rates of organomegaly, thrombotic events, and myelofibrosis. | 0.294051045 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20339092 | 861 | RUNX1 | umls:C0001815 | BeFree | AML1 mRNA expression was elevated in patients with PV, essential thrombocythemia, and primary myelofibrosis both in the presence and absence of JAK2(V617F). | 0.001085767 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22280409 | 53827 | FXYD5 | umls:C0001815 | BeFree | In conclusion, a simple model which includes: age, JAK2 V617F-status and constitutional symptoms can clearly separate distinct risk groups and can be used in addition to the Lille model to predict OS after RIC-ASCT for myelofibrosis. | 0.000271442 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 24957246 | 811 | CALR | umls:C0001815 | BeFree | Patients with JAK2 V617F-positive MPN have a heterogeneous histology while CALR-positive ET is associated with megakaryocyte abnormalities and prefibrotic PMF. | 0.127328931 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17961178 | 947 | CD34 | umls:C0001815 | BeFree | The present data suggests the JAK2 V617F allele burden as a key determinant of the degree of myeloproliferation and myeloid metaplasia reflected by significantly higher levels of white blood cell counts (WBC) (P = 0.03), CD34 counts (P = 0.03), lactate dehydrogenase and Polycythemia Rubra Vera gene 1 levels (P = 0.03 and P < 0.00001 respectively), as well as lower platelet counts (P = 0.02) and more cases of splenomegaly (P = 0.001) in homozygous PV patients compared to their heterozygous counterparts. | 0.009238955 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22234689 | 3717 | JAK2 | umls:C0001815 | BeFree | JAK2(V617F) failed to induce polycythemia in recipients after deletion of Stat5a/b, although the loss of STAT5 did not prevent the development of myelofibrosis. | 0.294051045 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19657484 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23430670 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16990584 | 8091 | HMGA2 | umls:C0001815 | BeFree | Abnormal expression of HMGA2 and CXCR4 in IM granulocytes was dependent on the presence and the mutational status of JAK2(V617F) mutation. | 0.00408156 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18723264 | 3717 | JAK2 | umls:C0001815 | BeFree | JAK2(WT) progenitors were present in ET and PV when the CD34(+) JAK2(V617F) allele burden was lower than the neutrophil allele burden, but not in PV and PMF subjects in whom the CD34(+) cell and neutrophil allele burdens were similar. | 0.294051045 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23445613 | 6776 | STAT5A | umls:C0026987 | BeFree | Hemopoietic progenitor cells (HPC) from myeloproliferative neoplasms (MPN) such as myelofibrosis commonly express mutant JAK2-V617F or other mutations that are associated with increased activities of JAK-STAT5/3, RAS/RAF/MAPK, and PI3K/AKT/mTOR pathways. | 0.001628651 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18033315 | 3717 | JAK2 | umls:C0001815 | BeFree | An acquired JAK2 V617F mutation is found in most patients with polycythemia vera (PV), and about half of patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF). | 0.294051045 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21904853 | 4352 | MPL | umls:C0001815 | 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. | 0.051407048 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20339092 | 4778 | NFE2 | umls:C0001815 | BeFree | Here we show that NF-E2 expression is also increased in patients with essential thrombocythemia and primary myelofibrosis independent of the presence of the JAK2(V617F) mutation. | 0.000542884 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16919893 | 57126 | CD177 | umls:C0001815 | BeFree | The use of biological markers including JAK2 V617 PCR test, serum EPO, PRV-1, EEC, leukocyte alkaline phosphatase score and peripheral blood parameters combined with bone marrow histopathology has a high sensitivity and specificity (almost 100%) to diagnose the early and overt stages of ET, PV and CIMF in JAK2 V617F positive and negative MPDs. | 0.001900093 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16293880 | 3717 | JAK2 | umls:C0001815 | BeFree | The nature of the specific oncogenic mutation(s) is currently being unraveled with the recent discovery of an association between a somatic point mutation of JAK2 tyrosine kinase (V617F) and bcr/abl-negative myeloproliferative disorders, including MMM. | 0.294051045 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18575049 | 3717 | JAK2 | umls:C0001815 | 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). | 0.294051045 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 24858412 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16225651 | 3717 | JAK2 | umls:C0027013 | BeFree | In the current study, mutation analysis for JAK2(V617F) was performed in peripheral blood mononuclear cells (PBMC) from 157 patients with myelofibrosis with myeloid metaplasia (MMM) including 117 with agnogenic (AMM), 22 with postpolycythaemic (PPMM), and 18 with post-thrombocythaemic (PTMM) myeloid metaplasia. | 0.001085767 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23445613 | 6776 | STAT5A | umls:C0001815 | BeFree | Hemopoietic progenitor cells (HPC) from myeloproliferative neoplasms (MPN) such as myelofibrosis commonly express mutant JAK2-V617F or other mutations that are associated with increased activities of JAK-STAT5/3, RAS/RAF/MAPK, and PI3K/AKT/mTOR pathways. | 0.002171535 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18769448 | 25 | ABL1 | umls:C0001815 | 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. | 0.006243163 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21904853 | 3418 | IDH2 | umls:C0001815 | 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 | 20888389 | 3717 | JAK2 | umls:C0026987 | 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. | 0.22904428 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17266061 | 3717 | JAK2 | umls:C0026987 | 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. | 0.22904428 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20425385 | 3717 | JAK2 | umls:C0001815 | BeFree | Novel treatment strategies are under investigation, including targeted inhibition of JAK2(V617F), the activating tyrosine kinase point mutation present in about half of patients with MMM. | 0.294051045 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16247455 | 3717 | JAK2 | umls:C0001815 | BeFree | A missense somatic mutation in JAK2 gene (JAK2 V617F) has recently been reported in chronic myeloproliferative disorders, including polycythemia vera, essential thrombocythemia and myelofibrosis with myeloid metaplasia, strongly suggesting its role in the pathogenesis of myeloid disorders. | 0.294051045 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20160166 | 3717 | JAK2 | umls:C0001815 | BeFree | The activating mutation JAK2 V617F plays a central role in the pathogenesis of polycythemia vera, essential thrombocythemia, and primary myelofibrosis. | 0.294051045 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22041356 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22364960 | 3717 | JAK2 | umls:C0001815 | BeFree | The presence of JAK2 V617F mutation is a cause of primary thrombocythemia and myelofibrosis in acromegaly. | 0.294051045 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20422415 | 3717 | JAK2 | umls:C0001815 | BeFree | We genotyped 149 myeloproliferative neoplasms patients (69 had polycythemia vera, 65 had essential thrombocythemia, and 15 had primary myelofibrosis) with a known JAK2 V617F mutational status and 150 controls for the JAK2 rs10974944 (C/G) single nucleotide polymorphism, in which the G allele tags the 46/1 haplotype. | 0.294051045 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23057517 | 4352 | MPL | umls:C0001815 | BeFree | Given their diagnostic relevance, it is also beneficial and relatively straightforward to screen JAK2 V617F negative patients for JAK2 exon 12 mutations (in the case of erythrocytosis) or MPL exon 10 mutations (thrombocytosis or myelofibrosis) using appropriate assays. | 0.051407048 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 24475114 | 613 | BCR | umls:C0001815 | BeFree | Most cases of BCR-ABL1-negative myeloproliferative neoplasms (MPNs), essential thrombocythemia, polycythemia vera and primary myelofibrosis are associated with JAK2 (V617F) mutations. | 0.003528744 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17255768 | 3717 | JAK2 | umls:C0026987 | BeFree | The frequency of the JAK2 V617F was 73% (85% in PV, 65% in ET, and 65% in CIMF). | 0.22904428 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18612778 | 3717 | JAK2 | umls:C0026987 | BeFree | Using novel mutation-specific PCR which is a highly sensitive PCR-based assay for detection of JAK2 mutated allele(s), we identified V617F in 38 Ph-MPD, which include 13 polycythemia vera (PV), 23 essential thrombocythemia (ET) and 2 chronic idiopatic myelofibrosis. | 0.22904428 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18048969 | 3717 | JAK2 | umls:C0026987 | BeFree | The recently identified JAK2(V617F) mutation is frequently present in the classic CMPDs polycythemia vera, essential thrombocythemia, and chronic idiopathic myelofibrosis. | 0.22904428 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20339092 | 3717 | JAK2 | umls:C0001815 | BeFree | AML1 mRNA expression was elevated in patients with PV, essential thrombocythemia, and primary myelofibrosis both in the presence and absence of JAK2(V617F). | 0.294051045 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23057517 | 3717 | JAK2 | umls:C0001815 | BeFree | Given their diagnostic relevance, it is also beneficial and relatively straightforward to screen JAK2 V617F negative patients for JAK2 exon 12 mutations (in the case of erythrocytosis) or MPL exon 10 mutations (thrombocytosis or myelofibrosis) using appropriate assays. | 0.294051045 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19847199 | 3717 | JAK2 | umls:C0001815 | BeFree | JAK2 germline genetic variation affects disease susceptibility in primary myelofibrosis regardless of V617F mutational status: nullizygosity for the JAK2 46/1 haplotype is associated with inferior survival. | 0.294051045 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18612778 | 4597 | MVD | umls:C0001815 | BeFree | Using novel mutation-specific PCR which is a highly sensitive PCR-based assay for detection of JAK2 mutated allele(s), we identified V617F in 38 Ph-MPD, which include 13 polycythemia vera (PV), 23 essential thrombocythemia (ET) and 2 chronic idiopatic myelofibrosis. | 0.002442977 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19877761 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17961178 | 3717 | JAK2 | umls:C0001815 | BeFree | The JAK2 V617F allele burden in essential thrombocythemia, polycythemia vera and primary myelofibrosis--impact on disease phenotype. | 0.294051045 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17133423 | 3717 | JAK2 | umls:C0001815 | BeFree | Clearance of the Janus kinase 2 (JAK2) V617F mutation after allogeneic stem cell transplantation in a patient with myelofibrosis with myeloid metaplasia. | 0.294051045 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20587663 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16810614 | 3717 | JAK2 | umls:C0026987 | BeFree | JAK2 V617F-positive ET/PV and CIMF should be distinguished from wild-type JAK2 ET, rare cases of PV, and CIMF, and should be evaluated during life-long follow-up. | 0.22904428 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18612778 | 3717 | JAK2 | umls:C0001815 | BeFree | Using novel mutation-specific PCR which is a highly sensitive PCR-based assay for detection of JAK2 mutated allele(s), we identified V617F in 38 Ph-MPD, which include 13 polycythemia vera (PV), 23 essential thrombocythemia (ET) and 2 chronic idiopatic myelofibrosis. | 0.294051045 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17875526 | 3717 | JAK2 | umls:C0026987 | BeFree | The gain-of-function JAK2 V617F mutation shifts the phenotype of essential thrombocythemia and chronic idiopathic myelofibrosis to more erythremic and less thrombocythemic: a molecular, histologic, and clinical study. | 0.22904428 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23666689 | 3717 | JAK2 | umls:C0001815 | 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). | 0.294051045 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18723264 | 947 | CD34 | umls:C0001815 | BeFree | CD34(+) cell JAK2(V617F) clonal dominance, defined as coherence between the CD34(+) cell and neutrophil JAK2(V617F) allele burdens, was present in 24% of ET, 56% of PV, and 93% of PMF patients, and was independent of the CD34(+) cell JAK2(V617F) genotype. | 0.009238955 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16531268 | 3717 | JAK2 | umls:C0001815 | BeFree | A longitudinal study of the JAK2(V617F) mutation in myelofibrosis with myeloid metaplasia: analysis at two time points. | 0.294051045 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17961178 | 947 | CD34 | umls:C0027013 | BeFree | The present data suggests the JAK2 V617F allele burden as a key determinant of the degree of myeloproliferation and myeloid metaplasia reflected by significantly higher levels of white blood cell counts (WBC) (P = 0.03), CD34 counts (P = 0.03), lactate dehydrogenase and Polycythemia Rubra Vera gene 1 levels (P = 0.03 and P < 0.00001 respectively), as well as lower platelet counts (P = 0.02) and more cases of splenomegaly (P = 0.001) in homozygous PV patients compared to their heterozygous counterparts. | 0.000542884 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22234689 | 6776 | STAT5A | umls:C0026987 | BeFree | JAK2(V617F) failed to induce polycythemia in recipients after deletion of Stat5a/b, although the loss of STAT5 did not prevent the development of myelofibrosis. | 0.001628651 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25746303 | 4352 | MPL | umls:C0001815 | BeFree | Frequency and allele burden of CALR mutations in Chinese with essential thrombocythemia and primary myelofibrosis without JAK2(V617F) or MPL mutations. | 0.051407048 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20354212 | 3717 | JAK2 | umls:C0001815 | BeFree | Allele-specific wild-type blocker quantitative PCR for highly sensitive detection of rare JAK2 p.V617F point mutation in primary myelofibrosis as an appropriate tool for the monitoring of molecular remission following therapy. | 0.294051045 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19616600 | 83886 | PRSS27 | umls:C0001815 | BeFree | Thus, for Ph(-) MPN in which ET and prefibrotic PMF represent the most probable diagnoses, a JAK2(V617F) allele burden >50% favors a diagnosis of prefibrotic PMF. | 0.003528744 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19277418 | 3717 | JAK2 | umls:C0026987 | BeFree | JAK2 V617F was detected in 89 (61%) patients with ET, 103 (86%) with PV, four (33%) with myelofibrosis, and four (80%) with MPNu. | 0.22904428 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18048969 | 3717 | JAK2 | umls:C0001815 | BeFree | The recently identified JAK2(V617F) mutation is frequently present in the classic CMPDs polycythemia vera, essential thrombocythemia, and chronic idiopathic myelofibrosis. | 0.294051045 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20197548 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19167611 | 3717 | JAK2 | umls:C0001815 | BeFree | The frequency of JAK2 V617F mutation is about 90% in patients with PV, 50-60% in patients with essential thrombocythemia (ET), primary myelofibrosis (PMF), and less in patients with other myeloid neoplasms, while extremely rare in lymphoid malignancies. | 0.294051045 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16871275 | 6774 | STAT3 | umls:C0026987 | BeFree | Janus kinase 2 (V617F) mutation status, signal transducer and activator of transcription-3 phosphorylation and impaired neutrophil apoptosis in myelofibrosis with myeloid metaplasia. | 0.000542884 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19616600 | 4352 | MPL | umls:C0001815 | BeFree | Histopathological categories ET and prefibrotic PMF correlate with significant differences in mutant allelic burden of JAK2(V617F), but not of MPL(W515L) which, by contrast to JAK2(V617F), shows a higher percentage of mutated alleles in fibrotic than in prefibrotic cases. | 0.051407048 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22463737 | 3717 | JAK2 | umls:C0001815 | BeFree | These changes and the resultant clinical research are discussed in this article where we argue that discovery of the JAK2 V617F mutation has signalled the much delayed change in therapeutic paradigm for myelofibrosis and possibly other MPNs from palliation and allowing us to move closer to, but not yet attain, a cure. | 0.294051045 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22300941 | 3717 | JAK2 | umls:C0026987 | BeFree | Deregulation of apoptosis-related genes is associated with PRV1 overexpression and JAK2 V617F allele burden in Essential Thrombocythemia and Myelofibrosis. | 0.22904428 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19521323 | 3717 | JAK2 | umls:C0001815 | BeFree | The diagnosis and management of polycythemia vera, essential thrombocythemia, and primary myelofibrosis in the JAK2 V617F era. | 0.294051045 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16912229 | 3717 | JAK2 | umls:C0001815 | 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). | 0.294051045 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 24186132 | 3717 | JAK2 | umls:C0026987 | BeFree | JAK2 V617F mutations were detected in 6 of the 28 patients with bone marrow fibrosis presenting at the time of diagnosis and 2 of the 7 patients with bone marrow fibrosis developing in the course of disease, significantly higher than the control group patients. | 0.22904428 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22065597 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21904853 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22463737 | 3717 | JAK2 | umls:C0026987 | BeFree | These changes and the resultant clinical research are discussed in this article where we argue that discovery of the JAK2 V617F mutation has signalled the much delayed change in therapeutic paradigm for myelofibrosis and possibly other MPNs from palliation and allowing us to move closer to, but not yet attain, a cure. | 0.22904428 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25617626 | 3717 | JAK2 | umls:C0001815 | BeFree | JAK2 exon 14 skipping in patients with primary myelofibrosis: a minor splice variant modulated by the JAK2-V617F allele burden. | 0.294051045 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16373657 | 3717 | JAK2 | umls:C0026987 | BeFree | In polycythemia vera, JAK2 (V617F) was detected in 23 of 25 subjects at diagnosis and in 16 of 16 patients whose disease had evolved into myelofibrosis; median percentages of mutant alleles in these subgroups were significantly different (32% versus 95%, P < .001). | 0.22904428 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16990584 | 7852 | CXCR4 | umls:C0001815 | BeFree | Abnormal expression of HMGA2 and CXCR4 in IM granulocytes was dependent on the presence and the mutational status of JAK2(V617F) mutation. | 0.009801702 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 24951423 | 3717 | JAK2 | umls:C0026987 | BeFree | We investigated this question using conditional JAK2(V617F) knock-in mice with constitutive and inducible expression of JAK2(V617F) in hematopoietic cells, which develop a polycythemia vera (PV)-like disorder evolving into myelofibrosis. | 0.22904428 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17587878 | 3717 | JAK2 | umls:C0026987 | BeFree | Megakaryocytes are homozygous in the majority of fibrotic CIMF and PV, whereas JAK2(V617F) heterozygosity is predominantly encountered in prefibrotic CIMF and essential thrombocythaemia but transition from hetero- to homozygosity with onset of fibrosis is rare. | 0.22904428 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 24475114 | 25 | ABL1 | umls:C0001815 | BeFree | Most cases of BCR-ABL1-negative myeloproliferative neoplasms (MPNs), essential thrombocythemia, polycythemia vera and primary myelofibrosis are associated with JAK2 (V617F) mutations. | 0.006243163 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23537216 | 3717 | JAK2 | umls:C0026987 | BeFree | These standards were used in two JAK2 p.V617F assays, which were used to support clinical studies of ruxolitinib (Jakafi(®)) in myelofibrosis, a real-time polymerase chain reaction assay for initial screening of all samples, and a novel single-nucleotide polymorphism typing (SNaPshot)-based assay for samples with less than 5% mutant allele burden. | 0.22904428 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20560681 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19616600 | 3717 | JAK2 | umls:C0026987 | BeFree | PMF with different stages of myelofibrosis all yielded similar JAK2(V617F) allele burden. | 0.22904428 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16810609 | 4597 | MVD | umls:C0001815 | BeFree | Bone marrow histopathology in addition to clinical, laboratory, biological, and molecular markers, including the JAK2 V617 PCR test, serum EPO, PRV-1, EEC, LAP score, peripheral blood parameters, and spleen size on echogram will detect the early stages of MPD and allows diagnostic differentiation of the three primary MPDs (ET, PV, and CIMF) in both JAK2 V617F-positive and JAK2 wild-type MPD patients. | 0.002442977 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19175693 | 3717 | JAK2 | umls:C0001815 | 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). | 0.294051045 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25116092 | 4352 | MPL | umls:C0001815 | BeFree | Four main molecular types of clonal MPN can be distinguished: JAK2(V617F)-positive ET and PV; JAK2 wild-type ET carrying the MPL(515); mutations in the calreticulin (CALR) gene in JAK2/MPL wild-type ET and MF, and a small proportion of JAK2/MPL/CALR wild-type ET and MF patients. | 0.051407048 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23445613 | 947 | CD34 | umls:C0026987 | BeFree | Here, we show that treatment with the dual phosphoinositide-3-kinase (PI3K)/AKT and mTOR inhibitor BEZ235 attenuated PI3K/AKT and mTOR signaling, as well as induced cell-cycle growth arrest and apoptosis of the cultured human JAK2-V617F-expressing HEL92.1.7 (HEL), UKE1 cells, and primary CD34+ myelofibrosis (MF)-MPN cells. | 0.002714419 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20650526 | 3717 | JAK2 | umls:C0001815 | BeFree | JAK2(V617F) allele burden in polycythemia vera correlates with grade of myelofibrosis, but is not substantially affected by therapy. | 0.294051045 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23445613 | 3717 | JAK2 | umls:C0001815 | BeFree | Here, we show that treatment with the dual phosphoinositide-3-kinase (PI3K)/AKT and mTOR inhibitor BEZ235 attenuated PI3K/AKT and mTOR signaling, as well as induced cell-cycle growth arrest and apoptosis of the cultured human JAK2-V617F-expressing HEL92.1.7 (HEL), UKE1 cells, and primary CD34+ myelofibrosis (MF)-MPN cells. | 0.294051045 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16871275 | 6774 | STAT3 | umls:C0001815 | BeFree | Janus kinase 2 (V617F) mutation status, signal transducer and activator of transcription-3 phosphorylation and impaired neutrophil apoptosis in myelofibrosis with myeloid metaplasia. | 0.003810118 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17255768 | 3717 | JAK2 | umls:C0001815 | BeFree | The frequency of the JAK2 V617F was 73% (85% in PV, 65% in ET, and 65% in CIMF). | 0.294051045 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22364960 | 3717 | JAK2 | umls:C0026987 | BeFree | The presence of JAK2 V617F mutation is a cause of primary thrombocythemia and myelofibrosis in acromegaly. | 0.22904428 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21904853 | 54790 | TET2 | umls:C0001815 | 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. | 0.007719925 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22006129 | 3717 | JAK2 | umls:C0001815 | 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). | 0.294051045 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 24986690 | 3717 | JAK2 | umls:C0001815 | BeFree | Of the 617 subjects studied, 399 (64.7%) carried JAK2 (V617F), 140 (22.7%) had a CALR exon 9 indel, 25 (4.0%) carried an MPL (W515) mutation, and 53 (8.6%) had nonmutated JAK2, CALR, and MPL (so-called triple-negative PMF). | 0.294051045 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25746303 | 811 | CALR | umls:C0001815 | BeFree | Frequency and allele burden of CALR mutations in Chinese with essential thrombocythemia and primary myelofibrosis without JAK2(V617F) or MPL mutations. | 0.127328931 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16810609 | 2056 | EPO | umls:C0026987 | BeFree | MPD-specific markers such as serum EPO, endogenous erythroid colony formation (EEC), and JAK2 V617F have high specificities, but the sensitivities are not high enough to detect the early stages of the MPDs, ET, PV, and prefibrotic CIMF. | 0.001085767 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16919893 | 57126 | CD177 | umls:C0026987 | BeFree | The use of biological markers including JAK2 V617 PCR test, serum EPO, PRV-1, EEC, leukocyte alkaline phosphatase score and peripheral blood parameters combined with bone marrow histopathology has a high sensitivity and specificity (almost 100%) to diagnose the early and overt stages of ET, PV and CIMF in JAK2 V617F positive and negative MPDs. | 0.001357209 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22818858 | 3717 | JAK2 | umls:C0001815 | BeFree | There was a trend toward a more frequent evolution to myelofibrosis when the JAK2(V617F) mutated allele burden was >50% (p=0.09), but not to AML. | 0.294051045 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20650526 | 3717 | JAK2 | umls:C0026987 | BeFree | JAK2(V617F) allele burden in polycythemia vera correlates with grade of myelofibrosis, but is not substantially affected by therapy. | 0.22904428 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18786436 | 3717 | JAK2 | umls:C0026987 | BeFree | Recurrent der(9;18) in essential thrombocythemia with JAK2 V617F is highly linked to myelofibrosis development. | 0.22904428 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20205617 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20966521 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18781401 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25934766 | 811 | CALR | umls:C0001815 | BeFree | This study revealed that CALR mutant essential thrombocythemia is associated with younger age, higher platelet counts, lower erythrocyte counts, leukocyte counts, hemoglobin, and hematocrit, and increased risk of progression to myelofibrosis in comparison with JAK2 V617F-positive essential thrombocythemia. | 0.127328931 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18769448 | 3717 | JAK2 | umls:C0026987 | BeFree | In bone marrow reconstitution models based on retroviral transduction, the phenotype induced by JAK2 V617F is less severe and different from the rapid fatal myelofibrosis induced by TpoR W515L. | 0.22904428 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25870379 | 3717 | JAK2 | umls:C0001815 | BeFree | The classical Philadelphia chromosome-negative myeloproliferative neoplasms (MPN), which include essential thrombocythemia, polycythemia vera, and myelofibrosis (MF), are in a new era of molecular diagnosis, ushered in by the identification of the JAK2(V617F) and cMPL mutations in 2005 and 2006, respectively, and the CALR mutations in 2013. | 0.294051045 | 2016 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19965680 | 3717 | JAK2 | umls:C0001815 | BeFree | This study is the largest hitherto carried out in this setting and shows that the rate of major CV events in PMF is comparable with that reported in essential thrombocythemia, and it is increased in aged patients and those with JAK2 V617F mutation and leukocytosis. | 0.294051045 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17389152 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25176567 | 3717 | JAK2 | umls:C0001815 | BeFree | Mutations of JAK2(V617F) or MPL(W515K/L) were absent in pediatric patients with PMF according to previous studies. | 0.294051045 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 24856675 | 3717 | JAK2 | umls:C0026987 | BeFree | The discovery of the activating JAK2 V617F mutation in patients with myelofibrosis (MF) led to the development of JAK2 inhibitors. | 0.22904428 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20859081 | 3717 | JAK2 | umls:C0026987 | BeFree | Cutaneous myelofibrosis with JAK2 V617F mutation: metastasis, not merely extramedullary hematopoiesis! | 0.22904428 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23537216 | 3717 | JAK2 | umls:C0001815 | BeFree | These standards were used in two JAK2 p.V617F assays, which were used to support clinical studies of ruxolitinib (Jakafi(®)) in myelofibrosis, a real-time polymerase chain reaction assay for initial screening of all samples, and a novel single-nucleotide polymorphism typing (SNaPshot)-based assay for samples with less than 5% mutant allele burden. | 0.294051045 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22234689 | 6777 | STAT5B | umls:C0001815 | BeFree | JAK2(V617F) failed to induce polycythemia in recipients after deletion of Stat5a/b, although the loss of STAT5 did not prevent the development of myelofibrosis. | 0.002171535 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17961178 | 3717 | JAK2 | umls:C0027013 | BeFree | The present data suggests the JAK2 V617F allele burden as a key determinant of the degree of myeloproliferation and myeloid metaplasia reflected by significantly higher levels of white blood cell counts (WBC) (P = 0.03), CD34 counts (P = 0.03), lactate dehydrogenase and Polycythemia Rubra Vera gene 1 levels (P = 0.03 and P < 0.00001 respectively), as well as lower platelet counts (P = 0.02) and more cases of splenomegaly (P = 0.001) in homozygous PV patients compared to their heterozygous counterparts. | 0.001085767 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25171702 | 3717 | JAK2 | umls:C0001815 | BeFree | Megakaryocytic morphology and clinical parameters in essential thrombocythemia, polycythemia vera, and primary myelofibrosis with and without JAK2 V617F. | 0.294051045 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17213018 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22300941 | 3717 | JAK2 | umls:C0001815 | BeFree | Deregulation of apoptosis-related genes is associated with PRV1 overexpression and JAK2 V617F allele burden in Essential Thrombocythemia and Myelofibrosis. | 0.294051045 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17145859 | 3717 | JAK2 | umls:C0001815 | BeFree | The JAK2(V617F) mutation is present in almost all patients with polycythemia vera (PV), large proportions of patients with essential thrombocythemia and idiopathic myelofibrosis, and less frequently in atypical myeloproliferative disorders (MPD). | 0.294051045 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 26228487 | 3717 | JAK2 | umls:C0001815 | 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). | 0.294051045 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20966521 | 102606463 | LINC01152 | umls:C0001815 | 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. | 0.001900093 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16197445 | 57126 | CD177 | umls:C0001815 | BeFree | In order to explore the correlation between these two biological markers and compare their diagnostic utility, mutation analysis for JAK2(V617F) and quantitative measurement of granulocyte PRV-1 expression were performed on the same study sample from 100 participants: 38 with PV, 22 with essential thrombocythaemia (ET), 10 with agnogenic myeloid metaplasia (AMM), 19 with secondary polycythaemia (SP) and 11 healthy volunteers. | 0.001900093 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20425385 | 3717 | JAK2 | umls:C0026987 | BeFree | Novel treatment strategies are under investigation, including targeted inhibition of JAK2(V617F), the activating tyrosine kinase point mutation present in about half of patients with MMM. | 0.22904428 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17018857 | 3717 | JAK2 | umls:C0026987 | BeFree | Monitoring of the JAK2-V617F mutation by highly sensitive quantitative real-time PCR after allogeneic stem cell transplantation in patients with myelofibrosis. | 0.22904428 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16531268 | 3717 | JAK2 | umls:C0026987 | BeFree | A longitudinal study of the JAK2(V617F) mutation in myelofibrosis with myeloid metaplasia: analysis at two time points. | 0.22904428 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22280409 | 3717 | JAK2 | umls:C0001815 | BeFree | In conclusion, a simple model which includes: age, JAK2 V617F-status and constitutional symptoms can clearly separate distinct risk groups and can be used in addition to the Lille model to predict OS after RIC-ASCT for myelofibrosis. | 0.294051045 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20859081 | 3717 | JAK2 | umls:C0001815 | BeFree | Cutaneous myelofibrosis with JAK2 V617F mutation: metastasis, not merely extramedullary hematopoiesis! | 0.294051045 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22333011 | 3717 | JAK2 | umls:C0026987 | 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. | 0.22904428 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16810609 | 3717 | JAK2 | umls:C0026987 | BeFree | Bone marrow histopathology in addition to clinical, laboratory, biological, and molecular markers, including the JAK2 V617 PCR test, serum EPO, PRV-1, EEC, LAP score, peripheral blood parameters, and spleen size on echogram will detect the early stages of MPD and allows diagnostic differentiation of the three primary MPDs (ET, PV, and CIMF) in both JAK2 V617F-positive and JAK2 wild-type MPD patients. | 0.22904428 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16373657 | 3717 | JAK2 | umls:C0001815 | BeFree | In polycythemia vera, JAK2 (V617F) was detected in 23 of 25 subjects at diagnosis and in 16 of 16 patients whose disease had evolved into myelofibrosis; median percentages of mutant alleles in these subgroups were significantly different (32% versus 95%, P < .001). | 0.294051045 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19299003 | 3717 | JAK2 | umls:C0001815 | BeFree | Association of V617F Jak2 mutation with the risk of thrombosis among patients with essential thrombocythaemia or idiopathic myelofibrosis: a systematic review. | 0.294051045 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25116092 | 811 | CALR | umls:C0001815 | BeFree | Four main molecular types of clonal MPN can be distinguished: JAK2(V617F)-positive ET and PV; JAK2 wild-type ET carrying the MPL(515); mutations in the calreticulin (CALR) gene in JAK2/MPL wild-type ET and MF, and a small proportion of JAK2/MPL/CALR wild-type ET and MF patients. | 0.127328931 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22234689 | 6777 | STAT5B | umls:C0026987 | BeFree | JAK2(V617F) failed to induce polycythemia in recipients after deletion of Stat5a/b, although the loss of STAT5 did not prevent the development of myelofibrosis. | 0.001628651 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25934766 | 811 | CALR | umls:C0026987 | BeFree | This study revealed that CALR mutant essential thrombocythemia is associated with younger age, higher platelet counts, lower erythrocyte counts, leukocyte counts, hemoglobin, and hematocrit, and increased risk of progression to myelofibrosis in comparison with JAK2 V617F-positive essential thrombocythemia. | 0.121628651 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17059429 | 4597 | MVD | umls:C0001815 | 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. | 0.002442977 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23313046 | 3717 | JAK2 | umls:C0001815 | BeFree | However, JAK2 inhibitors have limited ability to reduce JAK2 V617F allele burden or bone marrow fibrosis in humans. | 0.294051045 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 24951423 | 3717 | JAK2 | umls:C0001815 | BeFree | We investigated this question using conditional JAK2(V617F) knock-in mice with constitutive and inducible expression of JAK2(V617F) in hematopoietic cells, which develop a polycythemia vera (PV)-like disorder evolving into myelofibrosis. | 0.294051045 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23445613 | 6777 | STAT5B | umls:C0001815 | BeFree | Hemopoietic progenitor cells (HPC) from myeloproliferative neoplasms (MPN) such as myelofibrosis commonly express mutant JAK2-V617F or other mutations that are associated with increased activities of JAK-STAT5/3, RAS/RAF/MAPK, and PI3K/AKT/mTOR pathways. | 0.002171535 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18300758 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17296581 | 3717 | JAK2 | umls:C0001815 | BeFree | An acquired JAK2 (V617F)mutation has been found in myeloid cells from most patients with chronic idiopathic myelofibrosis (IM), but whether it occurs in a common myelo-lymphoid, rather than a myeloid-restricted, progenitor cell is still debated. | 0.294051045 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16225651 | 3717 | JAK2 | umls:C0001815 | BeFree | The JAK2(V617F) tyrosine kinase mutation in myelofibrosis with myeloid metaplasia: lineage specificity and clinical correlates. | 0.294051045 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21904853 | 867 | CBL | umls:C0001815 | 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. | 0.000542884 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20631743 | 3717 | JAK2 | umls:C0001815 | BeFree | In conclusion, a JAK2 (V617F) allele burden >50% represents a risk factor for progression to MF in PV. | 0.294051045 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21228032 | 4352 | MPL | umls:C0001815 | BeFree | Somatic mutations of MPL exon 10, mainly involving a W515 substitution, have been described in JAK2 (V617F)-negative patients with essential thrombocythemia and primary myelofibrosis. | 0.051407048 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25912019 | 3717 | JAK2 | umls:C0026987 | BeFree | Activation of Janus kinase 2 (JAK2), frequently as a result of the JAK2(V617F) mutation, is a characteristic feature of the classical myeloproliferative neoplasms (MPNs) polycythemia vera, essential thrombocythemia, and myelofibrosis, and it is thought to be responsible for the constitutional symptoms associated with these diseases. | 0.22904428 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 24084459 | 3717 | JAK2 | umls:C0001815 | BeFree | The JAK2 V617F mutation was less common on the border of statistical significance (p = 0.08) in Chernobyl primary myelofibrosis (PMF) patients than in non-exposed patients. | 0.294051045 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25637689 | 3717 | JAK2 | umls:C0001815 | BeFree | We found twelve individuals with the JAK2 V617F mutation; five of them had been clinically classified as PV, five as ET, and one as MF. | 0.294051045 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22280409 | 3717 | JAK2 | umls:C0026987 | BeFree | In conclusion, a simple model which includes: age, JAK2 V617F-status and constitutional symptoms can clearly separate distinct risk groups and can be used in addition to the Lille model to predict OS after RIC-ASCT for myelofibrosis. | 0.22904428 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25259626 | 811 | CALR | umls:C0001815 | BeFree | The recent discovery of mutations within the CALR gene in up to 80% of JAK2 V617F-negative ET and PMF patients compels employment of CALR mutational analysis for the molecular diagnosis of these diseases. | 0.127328931 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22234689 | 3717 | JAK2 | umls:C0026987 | BeFree | JAK2(V617F) failed to induce polycythemia in recipients after deletion of Stat5a/b, although the loss of STAT5 did not prevent the development of myelofibrosis. | 0.22904428 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20528738 | 3717 | JAK2 | umls:C0001815 | 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). | 0.294051045 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18815196 | 3717 | JAK2 | umls:C0001815 | BeFree | There was a trend towards an association between SOCS3 methylation and lower SOCS3 expression in JAK2 V617F negative patients with idiopathic myelofibrosis but not in JAK2 V617F positive ones. | 0.294051045 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20631743 | 3717 | JAK2 | umls:C0026987 | BeFree | In conclusion, a JAK2 (V617F) allele burden >50% represents a risk factor for progression to MF in PV. | 0.22904428 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20331763 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25934766 | 3717 | JAK2 | umls:C0026987 | BeFree | This study revealed that CALR mutant essential thrombocythemia is associated with younger age, higher platelet counts, lower erythrocyte counts, leukocyte counts, hemoglobin, and hematocrit, and increased risk of progression to myelofibrosis in comparison with JAK2 V617F-positive essential thrombocythemia. | 0.22904428 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22555824 | 3717 | JAK2 | umls:C0001815 | BeFree | It is now a well recognized fact that the JAK2 (V617F) mutation occurs in majority of the patients with polycythaemia vera (PV) and half of those with myelofibrosis and essential thrombocythaemia. | 0.294051045 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20888389 | 3717 | JAK2 | umls:C0001815 | BeFree | Disease burden at the progenitor level is a feature of primary myelofibrosis: a multivariable analysis of 164 JAK2 V617F-positive myeloproliferative neoplasm patients. | 0.294051045 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17133423 | 3717 | JAK2 | umls:C0026987 | BeFree | Clearance of the Janus kinase 2 (JAK2) V617F mutation after allogeneic stem cell transplantation in a patient with myelofibrosis with myeloid metaplasia. | 0.22904428 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16810614 | 3717 | JAK2 | umls:C0001815 | BeFree | JAK2 V617F-positive ET/PV and CIMF should be distinguished from wild-type JAK2 ET, rare cases of PV, and CIMF, and should be evaluated during life-long follow-up. | 0.294051045 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22333011 | 3717 | JAK2 | umls:C0001815 | 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. | 0.294051045 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16563504 | 3717 | JAK2 | umls:C0026987 | BeFree | JAK2(V617F) and leukemic transformation in myelofibrosis with myeloid metaplasia. | 0.22904428 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16919893 | 2056 | EPO | umls:C0001815 | BeFree | The use of biological markers including JAK2 V617 PCR test, serum EPO, PRV-1, EEC, leukocyte alkaline phosphatase score and peripheral blood parameters combined with bone marrow histopathology has a high sensitivity and specificity (almost 100%) to diagnose the early and overt stages of ET, PV and CIMF in JAK2 V617F positive and negative MPDs. | 0.001085767 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16924638 | 3717 | JAK2 | umls:C0001815 | BeFree | One hundred and forty four patients with a clinical indication of suspected polycythemia vera (PV), essential thrombocythemia, or idiopathic myelofibrosis were screened for JAK2(V617F) and the mutation frequency was 47, 51, and 50%, respectively. | 0.294051045 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23313046 | 3717 | JAK2 | umls:C0026987 | BeFree | However, JAK2 inhibitors have limited ability to reduce JAK2 V617F allele burden or bone marrow fibrosis in humans. | 0.22904428 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16954506 | 3717 | JAK2 | umls:C0001815 | BeFree | Evidence that the JAK2 G1849T (V617F) mutation occurs in a lymphomyeloid progenitor in polycythemia vera and idiopathic myelofibrosis. | 0.294051045 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19713696 | 3717 | JAK2 | umls:C0001815 | BeFree | Wild-type JAK2 secondary acute erythroleukemia developing after JAK2-V617F-mutated primary myelofibrosis. | 0.294051045 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22280409 | 53827 | FXYD5 | umls:C0026987 | BeFree | In conclusion, a simple model which includes: age, JAK2 V617F-status and constitutional symptoms can clearly separate distinct risk groups and can be used in addition to the Lille model to predict OS after RIC-ASCT for myelofibrosis. | 0.000271442 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16532437 | 2056 | EPO | umls:C0001815 | BeFree | Respective clustering of unfavorable and favorable cytogenetic clones in myelofibrosis with myeloid metaplasia with homozygosity for JAK2(V617F) and response to erythropoietin therapy. | 0.001085767 | 2006 | 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:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0005547 | Myeloproliferative disorder | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0011974 | Myelofibrosis | MP:0014071 | increased cardiac muscle glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in heart muscle |
| Disease ID | 147 |
|---|---|
| Disease | myelofibrosis |
| Case | (Waiting for update.) |