eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| essential thrombocythemia | ||||
| Disease ID | 33 |
|---|---|
| Disease | essential thrombocythemia |
| Definition | clinical syndrome characterized by repeated spontaneous hemorrhages and a remarkable increase in the number of circulating platelets. |
| Synonym | [m]idiopathic thrombocythaemia [m]idiopathic thrombocythemia essential (haemorrhagic) thrombocythaemia essential (hemorrhagic) thrombocythemia essential haemorrhagic thrombocythaemia essential hemorrhagic thrombocythemia essential thrombocytemia essential thrombocythaemia essential thrombocythaemia (clinical disorder) essential thrombocythaemia (clinical) essential thrombocythaemia (disorder) essential thrombocythemia (clinical disorder) essential thrombocythemia (clinical) essential thrombocythemia (disorder) essential thrombocythemia (morphologic abnormality) essential thrombocythemias essential thrombocytosis essential thrombocytosis (disorder) essntial thrombocythemia et - essential thrombocythaemia et - essential thrombocythemia hemorrhagic thrombocythemia hemorrhagic thrombocythemias idiopathic (hemorrhagic) thrombocythemia idiopathic haemorrhagic thrombocythaemia idiopathic hemorrhagic thrombocythemia idiopathic thrombocythaemia idiopathic thrombocythaemia (disorder) idiopathic thrombocythaemia -retired- idiopathic thrombocythemia idiopathic thrombocythemia (disorder) idiopathic thrombocythemia (morphologic abnormality) idiopathic thrombocythemia -retired- idiopathic thrombocythemias primary thrombocythaemia primary thrombocythemia primary thrombocythemias primary thrombocytoses primary thrombocytosis thrombocythemia essential thrombocythemia idiopathic thrombocythemia, essential thrombocythemia, essential [disease/finding] thrombocythemia, essential, with hemorrhagic diathesis thrombocythemia, hemorrhagic thrombocythemia, idiopathic thrombocythemia, primary thrombocythemia, primary hemorrhagic thrombocythemias, essential thrombocythemias, hemorrhagic thrombocythemias, idiopathic thrombocythemias, primary thrombocytoses, primary thrombocytosis essential thrombocytosis, primary |
| Orphanet | |
| DOID | |
| ICD10 | |
| UMLS | C0040028 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:57) C0040053 | thrombosis | 26 C0027051 | myocardial infarction | 4 C0027051 | myocardial infarct | 4 C0023418 | leukemia | 4 C0023448 | lymphocytic leukemia | 4 C0023434 | chronic lymphocytic leukemia | 3 C0001815 | myelofibrosis | 3 C0026764 | myeloma | 2 C0155773 | portal vein thrombosis | 2 C0040053 | thrombus | 2 C0027022 | myeloproliferative neoplasms | 2 C0040034 | thrombocytopenia | 2 C0042384 | vasculitis | 2 C0026764 | multiple myeloma | 2 C0155626 | acute myocardial infarction | 2 C0398625 | protein c deficiency | 1 C0007177 | cardiac tamponade | 1 C0007785 | cerebral infarct | 1 C0007785 | cerebral infarctions | 1 C0042109 | urticarial | 1 C0221013 | systemic mastocytosis | 1 C0151436 | leucocytoclastic vasculitis | 1 C0023470 | myeloid leukemia | 1 C0019069 | hemophilia | 1 C0008625 | chromosomal abnormality | 1 C0020437 | hypercalcemia | 1 C0017658 | glomerulonephritis | 1 C0751711 | anterior ischaemic optic neuropathy | 1 C0007785 | cerebral infarction | 1 C0024523 | malabsorption | 1 C0085642 | livedo reticularis | 1 C0025202 | melanoma | 1 C0398623 | hypercoagulable state | 1 C0836924 | thrombocytosis | 1 C0007114 | skin cancer | 1 C0027765 | neurological disorders | 1 C0026266 | mitral regurgitation | 1 C0022735 | klinefelter syndrome | 1 C0023473 | chronic myeloid leukemia | 1 C1956391 | temporal arteritis | 1 C0024899 | mastocytosis | 1 C0042075 | urological disorders | 1 C0878544 | cardiomyopathy | 1 C0026654 | moyamoya | 1 C0019154 | hepatic vein thrombosis | 1 C0442874 | neuropathy | 1 C0029132 | optic neuropathy | 1 C0856761 | budd-chiari syndrome | 1 C0024299 | lymphoma | 1 C0039483 | giant cell arteritis | 1 C0024523 | malabsorption syndrome | 1 C0027765 | neurological disorder | 1 C0152276 | myeloid sarcoma | 1 C1522378 | large granular lymphocytic leukemia | 1 C0001815 | bone marrow fibrosis | 1 C1261473 | sarcoma | 1 C0699893 | non-melanoma skin cancer | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:12) 2247 | FGF2 | CTD_human 7040 | TGFB1 | CTD_human 3440 | IFNA2 | CTD_human 3717 | JAK2 | CTD_human;GHR;ORPHANET;UNIPROT 7157 | TP53 | ORPHANET 4352 | MPL | CTD_human;ORPHANET;GHR 54790 | TET2 | ORPHANET;GHR 10019 | SH2B3 | CLINVAR;ORPHANET 7066 | THPO | CLINVAR;CTD_human;GHR 5155 | PDGFB | CTD_human 5154 | PDGFA | CTD_human 811 | CALR | CLINVAR;ORPHANET;GHR |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:8) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:89) 25 | ABL1 | 5.271 | DISEASES 367 | AR | 1.761 | DISEASES 171023 | ASXL1 | 4.861 | DISEASES 664 | BNIP3 | 1.436 | DISEASES 669 | BPGM | 2.005 | DISEASES 811 | CALR | 6.584 | DISEASES 57126 | CD177 | 5.491 | DISEASES 966 | CD59 | 1.473 | DISEASES 441549 | CDNF | 1.124 | DISEASES 1154 | CISH | 2.266 | DISEASES 10321 | CRISP3 | 1.143 | DISEASES 1441 | CSF3R | 2.684 | DISEASES 8788 | DLK1 | 1.012 | DISEASES 8813 | DPM1 | 6.482 | DISEASES 1876 | E2F6 | 1.024 | DISEASES 64641 | EBF2 | 1.268 | DISEASES 56478 | EIF4ENIF1 | 3.138 | DISEASES 2022 | ENG | 1.008 | DISEASES 2120 | ETV6 | 1.678 | DISEASES 2145 | EZH1 | 1.584 | DISEASES 2152 | F3 | 2.385 | DISEASES 55179 | FAIM | 1.896 | DISEASES 100302740 | FAS-AS1 | 2.915 | DISEASES 54620 | FBXL19 | 1.807 | DISEASES 2260 | FGFR1 | 2.505 | DISEASES 81608 | FIP1L1 | 3.197 | DISEASES 2298 | FOXD4 | 2.06 | DISEASES 2617 | GARS | 1.673 | DISEASES 2623 | GATA1 | 1.953 | DISEASES 2634 | GBP2 | 1.534 | DISEASES 8328 | GFI1B | 1.025 | DISEASES 149775 | GNAS-AS1 | 2.212 | DISEASES 2811 | GP1BA | 2.199 | DISEASES 493869 | GPX8 | 2.131 | DISEASES 2993 | GYPA | 1.357 | DISEASES 8091 | HMGA2 | 1.773 | DISEASES 3418 | IDH2 | 3.518 | DISEASES 3423 | IDS | 1.115 | DISEASES 3440 | IFNA2 | 3.514 | DISEASES 10320 | IKZF1 | 2.176 | DISEASES 3612 | IMPA1 | 2.024 | DISEASES 3684 | ITGAM | 2.114 | DISEASES 3716 | JAK1 | 4.217 | DISEASES 3717 | JAK2 | 7.915 | DISEASES 3718 | JAK3 | 1.522 | DISEASES 3720 | JARID2 | 1.144 | DISEASES 3767 | KCNJ11 | 1.605 | DISEASES 8825 | LIN7A | 1.137 | DISEASES 23764 | MAFF | 1.253 | DISEASES 55796 | MBNL3 | 1.662 | DISEASES 4300 | MLLT3 | 1.26 | DISEASES 4332 | MNDA | 1.047 | DISEASES 8777 | MPDZ | 1.307 | DISEASES 4352 | MPL | 5.937 | DISEASES 143 | PARP4 | 1.351 | DISEASES 9659 | PDE4DIP | 1.65 | DISEASES 5329 | PLAUR | 1.177 | DISEASES 5493 | PPL | 1.108 | DISEASES 5688 | PSMA7 | 1.088 | DISEASES 5742 | PTGS1 | 1.679 | DISEASES 5781 | PTPN11 | 2.136 | DISEASES 55511 | SAGE1 | 1.098 | DISEASES 6401 | SELE | 1.209 | DISEASES 462 | SERPINC1 | 1.519 | DISEASES 29072 | SETD2 | 2.66 | DISEASES 10019 | SH2B3 | 3.759 | DISEASES 6563 | SLC14A1 | 1.222 | DISEASES 83650 | SLC35G5 | 2.368 | DISEASES 8651 | SOCS1 | 2.256 | DISEASES 8835 | SOCS2 | 2.348 | DISEASES 9021 | SOCS3 | 2.443 | DISEASES 6427 | SRSF2 | 3.477 | DISEASES 23635 | SSBP2 | 1.449 | DISEASES 6776 | STAT5A | 4.045 | DISEASES 6818 | SULT1A3 | 1.765 | DISEASES 445329 | SULT1A4 | 1.79 | DISEASES 117289 | TAGAP | 1.153 | DISEASES 54790 | TET2 | 4.733 | DISEASES 7056 | THBD | 2.889 | DISEASES 7075 | TIE1 | 1.296 | DISEASES 55504 | TNFRSF19 | 1.293 | DISEASES 116447 | TOP1MT | 1.96 | DISEASES 7404 | UTY | 1.365 | DISEASES 7409 | VAV1 | 1.576 | DISEASES 7422 | VEGFA | 1.423 | DISEASES 23038 | WDTC1 | 3.135 | DISEASES 643836 | ZFP62 | 2.852 | DISEASES 7718 | ZNF165 | 1.693 | DISEASES 79027 | ZNF655 | 2.058 | DISEASES |
| Locus | Symbol | Locus(Total Locus:6) |
| Disease ID | 33 |
|---|---|
| Disease | essential thrombocythemia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:52) C2364377 | delirium C2355575 | bone marrow fibrosis C2349404 | heparin-induced thrombocytopenia (hit) C1963099 | myelodysplasia C1861171 | activated protein c resistance C1521999 | acute myocardial infarction C1393529 | vascular complications C1279945 | acute interstitial pneumonitis C0948089 | acute coronary syndrome C0877221 | erythroblastopenia C0836924 | thrombocytosis C0836924 | elevated platelet count C0432412 | trisomy 8 C0422943 | visual symptoms C0302148 | thrombus C0272285 | heparin-induced thrombocytopenia C0242645 | blue toe syndrome C0234906 | annular erythema C0233763 | visual hallucinations C0232492 | upper abdominal pain C0152276 | myeloid sarcoma C0152276 | granulocytic sarcomas C0152276 | granulocytic sarcoma C0151942 | arterial thrombosis C0151693 | adrenal hemorrhage C0087086 | thrombi C0085652 | pyoderma gangrenosum C0085077 | sweet's syndrome C0041834 | erythemas C0040053 | thrombosis C0038454 | cerebral infarction C0037198 | cranial sinus thrombosis C0036205 | pulmonary sarcoidosis C0035328 | retinal vein occlusions C0034902 | pure red cell aplasia C0034065 | pulmonary embolism C0032962 | pregnancy complications C0027051 | myocardial infarction (mi) C0027051 | myocardial infarction C0023462 | acute megakaryocytic leukemia C0023418 | leukemia C0023223 | leg ulcers C0023223 | leg ulcer C0022660 | acute renal failure C0022116 | ischemia C0019154 | hepatic vein thrombosis C0019080 | hemorrhage C0017668 | focal segmental glomerulosclerosis C0014804 | erythromelalgia C0010068 | coronary disease C0003838 | arterial occlusive disease C0002878 | hemolytic anemia |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:13) C0040053 | thrombosis | 21 C0023418 | leukemia | 4 C0027051 | myocardial infarction | 3 C0155773 | portal vein thrombosis | 2 C0272285 | heparin-induced thrombocytopenia | 2 C1956391 | temporal arteritis | 1 C0040053 | thrombus | 1 C0152276 | myeloid sarcoma | 1 C0007785 | cerebral infarction | 1 C1393529 | vascular complications | 1 C0001815 | bone marrow fibrosis | 1 C0155626 | acute myocardial infarction | 1 C0836924 | thrombocytosis | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:409) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs10758669 | 18006699 | 2057 | EPOR | umls:C0040028 | 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. | 0.002638474 | 2008 | NA | 9 | 4981602 | C | A |
| rs10815148 | 18006699 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2008 | JAK2;INSL6 | 9 | 5057284 | T | A |
| rs10974947 | 18006699 | 2057 | EPOR | umls:C0040028 | 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. | 0.002638474 | 2008 | JAK2;INSL6 | 9 | 5072846 | G | A |
| rs121913614 | 23994117 | 4352 | MPL | umls:C0040028 | 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. | 0.28895414 | 2013 | MPL | 1 | 43349308 | G | A |
| rs121913614 | 20113333 | 7066 | THPO | umls:C0040028 | 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). | 0.248153188 | 2010 | MPL | 1 | 43349308 | G | A |
| rs121913615 | 23994117 | 4352 | MPL | umls:C0040028 | 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. | 0.28895414 | 2013 | MPL | 1 | 43349338 | G | T |
| rs121913615 | 20113333 | 7066 | THPO | umls:C0040028 | 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). | 0.248153188 | 2010 | MPL | 1 | 43349338 | G | T |
| rs121913615 | 17920754 | 4352 | MPL | umls:C0040028 | BeFree | The Janus kinase 2 mutation, JAK2 (V617F), and megakaryocytic mutations, MPL (W515L/K), have been identified and correlated with a subtype of essential thrombocythemia (ET) patients. | 0.28895414 | 2007 | MPL | 1 | 43349338 | G | T |
| rs121913615 | 25637689 | 4352 | MPL | umls:C0040028 | BeFree | One patient with the MPL W515L was identified with a clinical picture of ET. | 0.28895414 | 2014 | MPL | 1 | 43349338 | G | T |
| rs121913615 | 19261614 | 4352 | MPL | umls:C0040028 | BeFree | The activating W515L mutation in the thrombopoietin receptor (MPL) has been identified in primary myelofibrosis and essential thrombocythemia. | 0.28895414 | 2009 | MPL | 1 | 43349338 | G | T |
| rs121913615 | 19843380 | 4352 | MPL | umls:C0040028 | BeFree | One patient with the MPL W515L was identified with a clinical picture of ET. | 0.28895414 | 2009 | MPL | 1 | 43349338 | G | T |
| rs121913615 | 18669880 | 7066 | THPO | umls:C0040028 | 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. | 0.248153188 | 2008 | MPL | 1 | 43349338 | G | T |
| rs121913615 | 21228032 | 3717 | JAK2 | umls:C0040028 | BeFree | Only one patient with essential thrombocythemia carried both JAK2 (V617F) and MPL (W515L). | 0.461781343 | 2011 | MPL | 1 | 43349338 | G | T |
| rs121913615 | 19843380 | 25 | ABL1 | umls:C0040028 | BeFree | In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation and the MPL W515K mutation; 17 patients with essential thrombocythemia (ET), eight with polycythemia vera (PV), four with primary mielofibrosis (MF), five with undifferentiated MPN, one with primary erythrocytosis and one with familial thrombocytosis. | 0.007610304 | 2009 | MPL | 1 | 43349338 | G | T |
| rs121913615 | 19274616 | 4352 | MPL | umls:C0040028 | 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). | 0.28895414 | 2010 | MPL | 1 | 43349338 | G | T |
| rs121913615 | 18464114 | 4352 | MPL | umls:C0040028 | 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). | 0.28895414 | 2008 | MPL | 1 | 43349338 | G | T |
| rs121913615 | 19843380 | 613 | BCR | umls:C0040028 | BeFree | In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation and the MPL W515K mutation; 17 patients with essential thrombocythemia (ET), eight with polycythemia vera (PV), four with primary mielofibrosis (MF), five with undifferentiated MPN, one with primary erythrocytosis and one with familial thrombocytosis. | 0.005167327 | 2009 | MPL | 1 | 43349338 | G | T |
| rs121913615 | 19616600 | 4352 | MPL | umls:C0040028 | BeFree | MPL(W515L) was found in 3% of ET and 8% of PMF, with a significantly higher percentage of mutated alleles in fibrotic than prefibrotic PMF (median, 78% MPL(W515L) alleles; p<0.05). | 0.28895414 | 2009 | MPL | 1 | 43349338 | G | T |
| rs121913615 | 19274616 | 7066 | THPO | umls:C0040028 | 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). | 0.248153188 | 2010 | MPL | 1 | 43349338 | G | T |
| rs121913615 | 23441089 | 4352 | MPL | umls:C0040028 | BeFree | MPL W515L mutation in pediatric essential thrombocythemia. | 0.28895414 | 2013 | MPL | 1 | 43349338 | G | T |
| rs121913615 | 20890078 | 4352 | MPL | umls:C0040028 | BeFree | JAK2 V617F and MPL W515L/K mutations in Korean patients with essential thrombocythemia. | 0.28895414 | 2010 | MPL | 1 | 43349338 | G | T |
| rs121913615 | 18669880 | 4352 | MPL | umls:C0040028 | 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. | 0.28895414 | 2008 | MPL | 1 | 43349338 | G | T |
| rs121913615 | 20890078 | 3717 | JAK2 | umls:C0040028 | BeFree | JAK2 V617F and MPL W515L/K mutations in Korean patients with essential thrombocythemia. | 0.461781343 | 2010 | MPL | 1 | 43349338 | G | T |
| rs121913615 | 17920754 | 3717 | JAK2 | umls:C0040028 | BeFree | The Janus kinase 2 mutation, JAK2 (V617F), and megakaryocytic mutations, MPL (W515L/K), have been identified and correlated with a subtype of essential thrombocythemia (ET) patients. | 0.461781343 | 2007 | MPL | 1 | 43349338 | G | T |
| rs121913615 | 21228032 | 4352 | MPL | umls:C0040028 | BeFree | Only one patient with essential thrombocythemia carried both JAK2 (V617F) and MPL (W515L). | 0.28895414 | 2011 | MPL | 1 | 43349338 | G | T |
| rs121913616 | 19274616 | 7066 | THPO | umls:C0040028 | 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). | 0.248153188 | 2010 | NA | NA | NA | NA | NA |
| rs121913616 | 18669880 | 4352 | MPL | umls:C0040028 | 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. | 0.28895414 | 2008 | NA | NA | NA | NA | NA |
| rs121913616 | 19274616 | 4352 | MPL | umls:C0040028 | 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). | 0.28895414 | 2010 | NA | NA | NA | NA | NA |
| rs121913616 | 18669880 | 7066 | THPO | umls:C0040028 | 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. | 0.248153188 | 2008 | NA | NA | NA | NA | NA |
| rs121913616 | 20113333 | 7066 | THPO | umls:C0040028 | 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). | 0.248153188 | 2010 | NA | NA | NA | NA | NA |
| rs121913616 | 23994117 | 4352 | MPL | umls:C0040028 | 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. | 0.28895414 | 2013 | NA | NA | NA | NA | NA |
| rs121913616 | 19843380 | 613 | BCR | umls:C0040028 | BeFree | In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation and the MPL W515K mutation; 17 patients with essential thrombocythemia (ET), eight with polycythemia vera (PV), four with primary mielofibrosis (MF), five with undifferentiated MPN, one with primary erythrocytosis and one with familial thrombocytosis. | 0.005167327 | 2009 | NA | NA | NA | NA | NA |
| rs121913616 | 19843380 | 25 | ABL1 | umls:C0040028 | BeFree | In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation and the MPL W515K mutation; 17 patients with essential thrombocythemia (ET), eight with polycythemia vera (PV), four with primary mielofibrosis (MF), five with undifferentiated MPN, one with primary erythrocytosis and one with familial thrombocytosis. | 0.007610304 | 2009 | NA | NA | NA | NA | NA |
| rs12342421 | 18006699 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2008 | JAK2;INSL6 | 9 | 5065750 | G | C |
| rs141311765 | 22389068 | 7066 | THPO | umls:C0040028 | BeFree | A novel mutation in MPL (Y252H) results in increased thrombopoietin sensitivity in essential thrombocythemia. | 0.248153188 | 2012 | MPL | 1 | 43340027 | T | C |
| rs141311765 | 22389068 | 4352 | MPL | umls:C0040028 | BeFree | A novel mutation in MPL (Y252H) results in increased thrombopoietin sensitivity in essential thrombocythemia. | 0.28895414 | 2012 | MPL | 1 | 43340027 | T | C |
| rs1800562 | 11836162 | 3077 | HFE | umls:C0040028 | BeFree | The divergent frequencies observed for the C282Y mutation in patients with AML and ET highlight the need for larger population studies of HFE mutations in patients with hematologic diseases. | 0.002638474 | 2002 | HFE | 6 | 26092913 | G | A |
| rs202080221 | NA | 10019 | SH2B3 | umls:C0040028 | CLINVAR | NA | 0.240271442 | NA | SH2B3 | 12 | 111418767 | G | C,T |
| rs318699 | 18006699 | 2057 | EPOR | umls:C0040028 | 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. | 0.002638474 | 2008 | NA | 19 | 11390564 | A | G |
| rs3808850 | 18006699 | 2057 | EPOR | umls:C0040028 | 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. | 0.002638474 | 2008 | JAK2 | 9 | 4983311 | T | A |
| rs386626619 | 18612778 | 4597 | MVD | umls:C0040028 | 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. | 0.001900093 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 19120370 | 5917 | RARS | umls:C0040028 | BeFree | Recently, it has become clear that patients meeting WHO criteria for RARS-T have clonal JAK2(V617F) and MPL(W515) mutations at a similar rate to essential thrombocythaemia (ET). | 0.000542884 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 19093167 | 3717 | JAK2 | umls:C0040028 | BeFree | Comparison of clinicopathologic findings according to JAK2 V617F mutation in patients with essential thrombocythemia. | 0.461781343 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 17262192 | 3717 | JAK2 | umls:C0040028 | BeFree | We conclude that megakaryocytes might be the predominant or even the exclusive lineage that acquires the JAK2(V617F) mutation in ET and that the JAK2(V617F) evolution to higher gene dosages represents a dynamic and complex process substantially involving megakaryocytes. | 0.461781343 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 23430670 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 25116092 | 811 | CALR | umls:C0040028 | BeFree | JAK2/MPL wild-type, CALR mutated hypercellular ET associated with PMGM is featured by dense clustered large immature dysmorphic megakaryocytes and bulky (cloud-like) hyperchromatic nuclei, which are never seen in WHO-ECMP-defined JAK2(V617F) mutated ET, EMGM and PV, and neither in JAK2 wild-type ET carrying the MPL(515) mutation. | 0.247600372 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 20966521 | 3717 | JAK2 | umls:C0040028 | BeFree | The Janus-associated Kinase-2 mutation JAK2 V617F in chronic myeloproliferative disorders (CMPDs) has been described as a frequent genetic event in majority of patients with polycythemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF). | 0.461781343 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 17920754 | 3717 | JAK2 | umls:C0040028 | BeFree | The Janus kinase 2 mutation, JAK2 (V617F), and megakaryocytic mutations, MPL (W515L/K), have been identified and correlated with a subtype of essential thrombocythemia (ET) patients. | 0.461781343 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 22333011 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 17439832 | 3717 | JAK2 | umls:C0040028 | BeFree | Catastrophic intra-abdominal thrombosis can result from a variety of prothrombotic states, including polycythemia vera and essential thrombocythemia, both of which are frequently associated with an acquired mutation (V617F) in the JAK2 gene. | 0.461781343 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 25189723 | 4352 | MPL | umls:C0040028 | BeFree | Molecular profiling must include the analysis of JAK2 (looking for the V617F point-mutation in PV and ET, screening exon 12 for mutations only in V617F-negative PV), CALR and MPL mutations (both in V617F-negative ET). | 0.28895414 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 25012914 | 3717 | JAK2 | umls:C0040028 | BeFree | Evaluation of clinical and laboratory findings with JAK2 V617F mutation as an independent variable in essential thrombocytosis. | 0.461781343 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 22847163 | 25 | ABL1 | umls:C0040028 | BeFree | Chronic myeloproliferative neoplasms (MPN) are clonal disorders of hematopoietic stem cells, which fall into distinct categories based on a number of characteristics including the presence of the BCR-ABL1 gene fusion (chronic myelogenous leukemia) or the JAK2(V617F) mutation (polycythemia vera, primary myelofibrosis, and essential thrombocythemia). | 0.007610304 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 19336736 | 3717 | JAK2 | umls:C0040028 | BeFree | Influence of the JAK2 V617F mutation and inherited thrombophilia on the thrombotic risk among patients with essential thrombocythemia. | 0.461781343 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 16916724 | 3717 | JAK2 | umls:C0040028 | BeFree | Genetic heterogeneity of granulocytes for the JAK2 V617F mutation in essential thrombocythaemia: implications for mutation detection in peripheral blood. | 0.461781343 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 19120370 | 4352 | MPL | umls:C0040028 | BeFree | Recently, it has become clear that patients meeting WHO criteria for RARS-T have clonal JAK2(V617F) and MPL(W515) mutations at a similar rate to essential thrombocythaemia (ET). | 0.28895414 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 17369568 | 3717 | JAK2 | umls:C0040028 | BeFree | Children and adults with sporadic ET showed a similar proportion of patients with PRV-1 RNA overexpression, JAK2 V617F mutation, and clonality, while none of the familial ET showed JAK2 V617F mutation and clonality. | 0.461781343 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 22796437 | 3717 | JAK2 | umls:C0040028 | BeFree | We recently developed a Janus kinase 2 (Jak2) small molecule inhibitor called G6 and found that it exhibits marked efficacy in a xenograft model of Jak2-V617F-mediated hyperplasia and a transgenic mouse model of Jak2-V617F-mediated polycythemia vera/essential thrombocytosis. | 0.461781343 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 21228032 | 3717 | JAK2 | umls:C0040028 | BeFree | Only one patient with essential thrombocythemia carried both JAK2 (V617F) and MPL (W515L). | 0.461781343 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 19105233 | 2152 | F3 | umls:C0040028 | BeFree | These results support a role for platelet turnover, factor V, and aAPCR in the thrombosis of ET as well as the association between JAK2 V617F allele burden and either decreased free PS or increased TF and soluble markers of platelet and endothelial activation. | 0.000542884 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 24582788 | 3717 | JAK2 | umls:C0040028 | BeFree | We report the case of an untreated 32-year-old woman with a history of JAK2 V617F-positive ET with cerebellar and subarachnoid hemorrhages without evidence of sinus vein thrombosis. | 0.461781343 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 25934766 | 4352 | MPL | umls:C0040028 | BeFree | In a retrospective study, we examined the frequency of MPL and CALR mutations in JAK2 V617F-negative cases of essential thrombocythemia (n=103). | 0.28895414 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 23469088 | 3717 | JAK2 | umls:C0040028 | BeFree | Lastly, JAK2 V617F mutant allele burden was found much higher in polycythemia vera (PV) patients [median(P25-P75): 45.02%(35.12%-54.22%)] than in essential thrombocythemia (ET) patients [median(P25-P75): 28.23%(17.77%-41.66%)], and that it increased with WBC counts (r = 0.393, p = 0.000) and RBC counts(r = 0.215, p = 0.001), other than platelet counts (r = -0.051, p = 0.452). | 0.461781343 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 16810609 | 3717 | JAK2 | umls:C0040028 | BeFree | The clinical and pathological data on JAK2 V617F-positive MPD patients suggest that the JAK2 V617F mutation defines one disease entity with several sequential steps of ET, PV, and secondary myelofibrosis during long-term follow-up, and that the wild-type JAK2 MPDs may represent another distinct entity with a related but different molecular etiology. | 0.461781343 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 23994117 | 3717 | JAK2 | umls:C0040028 | BeFree | MPL mutation testing is recommended in patients with suspected primary myelofibrosis or essential thrombocythemia who lack the JAK2 V617F mutation. | 0.461781343 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 19691103 | 3717 | JAK2 | umls:C0040028 | BeFree | JAK2 (V617F)-positive ET may evolve in few instances into JAK2-negative leukemia. | 0.461781343 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 17369568 | 57126 | CD177 | umls:C0040028 | BeFree | Children and adults with sporadic ET showed a similar proportion of patients with PRV-1 RNA overexpression, JAK2 V617F mutation, and clonality, while none of the familial ET showed JAK2 V617F mutation and clonality. | 0.01114898 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 17687555 | 3717 | JAK2 | umls:C0040028 | BeFree | JAK2(V617F) positive early stage myeloproliferative disease (essential thrombocythemia) as the cause of portal vein thrombosis in two middle-aged women: therapeutic implications in view of the literature. | 0.461781343 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 16954506 | 3717 | JAK2 | umls:C0040028 | BeFree | The JAK2 V617F mutation has recently been described as an essential oncogenic event associated with polycythemia vera (PV), idiopathic myelofibrosis (IMF), and essential thrombocythemia. | 0.461781343 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 24957246 | 811 | CALR | umls:C0040028 | BeFree | Patients with JAK2 V617F-positive MPN have a heterogeneous histology while CALR-positive ET is associated with megakaryocyte abnormalities and prefibrotic PMF. | 0.247600372 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 18300758 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 21904853 | 867 | CBL | umls:C0040028 | 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 | 25746303 | 811 | CALR | umls:C0040028 | BeFree | Frequency and allele burden of CALR mutations in Chinese with essential thrombocythemia and primary myelofibrosis without JAK2(V617F) or MPL mutations. | 0.247600372 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 25259626 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 20615083 | 3717 | JAK2 | umls:C0040028 | BeFree | Plasma levels of angiogenic factors and circulating endothelial cells in essential thrombocythemia: correlation with cytoreductive therapy and JAK2-V617F mutational status. | 0.461781343 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 22555824 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 17178722 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 20888389 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 23391844 | 3717 | JAK2 | umls:C0040028 | BeFree | The JAK2 V617F mutation has been detected in patients with classical myeloproliferative disorders (MPD) including polycythemia vera and essential thrombocythemia and idiopathic myelofibrosis. | 0.461781343 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 17317861 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 16919893 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 19105233 | 3717 | JAK2 | umls:C0040028 | BeFree | Platelet turnover, coagulation factors, and soluble markers of platelet and endothelial activation in essential thrombocythemia: relationship with thrombosis occurrence and JAK2 V617F allele burden. | 0.461781343 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 16930139 | 102606463 | LINC01152 | umls:C0040028 | BeFree | Fli-1 mRNA expression was significantly higher in Essential thrombocythaemia (ET) with JAK2 (V617F) compared with other Ph(-) CMPD and control (P < 0.001). | 0.000814326 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 25139350 | 811 | CALR | umls:C0040028 | BeFree | Calreticulin mutations (CALR(MUT)) are found in a significant proportion of patients with essential thrombocythemia (ET) lacking JAK2(V617F) or MPL mutations. | 0.247600372 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 18838204 | 3717 | JAK2 | umls:C0040028 | BeFree | Proteomic study of the impact of the JAK2-V617F mutation on the phenotype of essential thrombocythemia. | 0.461781343 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 19468275 | 3717 | JAK2 | umls:C0040028 | BeFree | Meta-analyses in essential thrombocythemia documented Janus kinase 2 (JAK2) V617F as being associated with increased risk of thrombosis. | 0.461781343 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 24553179 | 3717 | JAK2 | umls:C0040028 | BeFree | Patients with CALR-mutated ET showed a higher platelet count (P = .017) and a lower cumulative incidence of thrombosis (P = .036) and of disease progression (P = .047) compared with those with JAK2 (V617F). | 0.461781343 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 16741247 | 3717 | JAK2 | umls:C0040028 | BeFree | The detection rate of JAK2 V617F mutants for polycythemia vera, chronic idiopathic myelofibrosis, and essential thrombocythemia (n = 103) was similar to the previously reported results. | 0.461781343 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 18600099 | 3717 | JAK2 | umls:C0040028 | BeFree | Evidence of jak2 val617phe positive essential thrombocythemia with splanchnic thrombosis during estroprogestinic treatment. | 0.461781343 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 24463275 | 3717 | JAK2 | umls:C0040028 | BeFree | In this study, we compared the plasma cytokine profiles of polycythemia vera (PV) patients and essential thrombocythemia (ET) patients as a function of their JAK2 V617F status and the presence of thrombohemorrhagic complications. | 0.461781343 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 24811089 | 3717 | JAK2 | umls:C0040028 | BeFree | All of our PV patients with thrombosis and most of our ET patients with thrombosis (76.1%) were JAK2 V617F mutation-positive. | 0.461781343 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 19843380 | 613 | BCR | umls:C0040028 | BeFree | In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation and the MPL W515K mutation; 17 patients with essential thrombocythemia (ET), eight with polycythemia vera (PV), four with primary mielofibrosis (MF), five with undifferentiated MPN, one with primary erythrocytosis and one with familial thrombocytosis. | 0.005167327 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 25189723 | 3717 | JAK2 | umls:C0040028 | BeFree | Molecular profiling must include the analysis of JAK2 (looking for the V617F point-mutation in PV and ET, screening exon 12 for mutations only in V617F-negative PV), CALR and MPL mutations (both in V617F-negative ET). | 0.461781343 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 16772604 | 3717 | JAK2 | umls:C0040028 | BeFree | An acquired V617F JAK2 mutation occurs in patients with polycythemia vera (PV) or essential thrombocythemia (ET). | 0.461781343 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 17183644 | 3717 | JAK2 | umls:C0040028 | BeFree | The lack of thrombocytosis suggests that additional events may be required for JAK2 V617F to cause ET, but qualitative platelet abnormalities induced by JAK2 V617F may contribute to the hemostatic complications of PV. | 0.461781343 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 19843380 | 25 | ABL1 | umls:C0040028 | BeFree | In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation and the MPL W515K mutation; 17 patients with essential thrombocythemia (ET), eight with polycythemia vera (PV), four with primary mielofibrosis (MF), five with undifferentiated MPN, one with primary erythrocytosis and one with familial thrombocytosis. | 0.007610304 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 20104275 | 57126 | CD177 | umls:C0040028 | BeFree | We retrospectively analysed laboratory and clinical findings of 106 consecutive patients with ET to evaluate possible relationships between thrombosis, abnormal bleeding, peripheral blood count, overexpression of PRV1 and JAK2(V617F) mutational status. | 0.01114898 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 25139350 | 3717 | JAK2 | umls:C0040028 | BeFree | Calreticulin mutations (CALR(MUT)) are found in a significant proportion of patients with essential thrombocythemia (ET) lacking JAK2(V617F) or MPL mutations. | 0.461781343 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 19616600 | 3717 | JAK2 | umls:C0040028 | BeFree | JAK2(V617F) allele burden discriminates essential thrombocythemia from a subset of prefibrotic-stage primary myelofibrosis. | 0.461781343 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 16670082 | 3717 | JAK2 | umls:C0040028 | BeFree | The JAK2/V617F mutation has been noted in essential thrombocytemia. | 0.461781343 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 18723264 | 947 | CD34 | umls:C0040028 | 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. | 0.002442977 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 25746303 | 3717 | JAK2 | umls:C0040028 | BeFree | We studied 1088 Chinese with diverse myeloproliferative neoplasms including ET (N=234) and PMF (N=50) without JAK2(V617F) or MPL exon 10 mutations. | 0.461781343 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 18769448 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 25968903 | 3717 | JAK2 | umls:C0040028 | BeFree | The 2005 JAK2 V617F discovery and the 2008 WHO diagnostic guideline for the JAK2 V617F mutation coincide with a 31 % increase in ET and a 21 % decrease in PV incidence rates. | 0.461781343 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 20339092 | 4778 | NFE2 | umls:C0040028 | 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. | 0.000814326 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 16537803 | 3717 | JAK2 | umls:C0040028 | 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). | 0.461781343 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 17875526 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 16325696 | 3717 | JAK2 | umls:C0040028 | BeFree | Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study. | 0.461781343 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 17389152 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 17266061 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 16210034 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 22884083 | 3717 | JAK2 | umls:C0040028 | BeFree | JAK2 V617F positive essential thrombocythemia developing in a patient with CD5⁻ chronic lymphocytic leukemia. | 0.461781343 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 23666689 | 3717 | JAK2 | umls:C0040028 | 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). | 0.461781343 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 24957246 | 3717 | JAK2 | umls:C0040028 | BeFree | Patients with JAK2 V617F-positive MPN have a heterogeneous histology while CALR-positive ET is associated with megakaryocyte abnormalities and prefibrotic PMF. | 0.461781343 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 18838204 | 335 | APOA1 | umls:C0040028 | BeFree | Finally, the JAK2-V617F load did not influence serum apolipoprotein A-1 levels in ET, a previously validated marker of JAK2-V617F allele burden in PV. | 0.000271442 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 17961178 | 3717 | JAK2 | umls:C0040028 | BeFree | The JAK2 V617F allele burden in essential thrombocythemia, polycythemia vera and primary myelofibrosis--impact on disease phenotype. | 0.461781343 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 17934351 | 3717 | JAK2 | umls:C0040028 | BeFree | Retrospective data have identified JAK2 V617F as a risk factor for thrombosis in essential thrombocythemia, and have also shown a tight association between JAK2 V617F and abdominal vein thrombosis. | 0.461781343 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 17976520 | 3717 | JAK2 | umls:C0040028 | BeFree | Among patients with PV and ET, methylation of the PRV-1 gene is also inversely correlated with the presence of the JAK2(V617F) somatic mutation. | 0.461781343 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 16810609 | 4597 | MVD | umls:C0040028 | 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. | 0.001900093 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 17229651 | 3717 | JAK2 | umls:C0040028 | BeFree | We compared the laboratory and clinical findings of 179 patients with essential thrombocythemia (ET) and 77 with polycythemia vera (PV) classified according to the presence of the JAK2 V617F mutation. | 0.461781343 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 16810614 | 3717 | JAK2 | umls:C0040028 | BeFree | The role of JAK2 V617F mutation, spontaneous erythropoiesis and megakaryocytopoiesis, hypersensitive platelets, activated leukocytes, and endothelial cells in the etiology of thrombotic manifestations in polycythemia vera and essential thrombocythemia. | 0.461781343 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 25171702 | 3717 | JAK2 | umls:C0040028 | BeFree | Megakaryocytic morphology also differed between primary myelofibrosis JAK2 V617F and essential thrombocythemia JAK2 V617F. | 0.461781343 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 19941738 | 3717 | JAK2 | umls:C0040028 | BeFree | We found an association between JAK2 V617F and thrombotic events in patients with PV and ET. | 0.461781343 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 18802948 | 3717 | JAK2 | umls:C0040028 | BeFree | Frequency and clinical features of the JAK2 V617F mutation in pediatric patients with sporadic essential thrombocythemia. | 0.461781343 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 17577920 | 3717 | JAK2 | umls:C0040028 | BeFree | V617F JAK-2 mutation in patients with essential thrombocythemia: relation to platelet, granulocyte, and plasma hemostatic and inflammatory molecules. | 0.461781343 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 17587878 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 25746303 | 4352 | MPL | umls:C0040028 | BeFree | We studied 1088 Chinese with diverse myeloproliferative neoplasms including ET (N=234) and PMF (N=50) without JAK2(V617F) or MPL exon 10 mutations. | 0.28895414 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 25139350 | 4352 | MPL | umls:C0040028 | BeFree | Calreticulin mutations (CALR(MUT)) are found in a significant proportion of patients with essential thrombocythemia (ET) lacking JAK2(V617F) or MPL mutations. | 0.28895414 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 24265174 | 3717 | JAK2 | umls:C0040028 | BeFree | Two JAK2 V617F positive patients showed baseline platelet counts indicative for ET and a third patient developed ET during follow up, finally resulting in a percentage of 0.188% of ET cases. | 0.461781343 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 18723264 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 19843380 | 3717 | JAK2 | umls:C0040028 | BeFree | Of the 17 individuals with ET, six (35%) had the JAK2 V617F mutation and one (6%) was found to have the MPL W515L mutation. | 0.461781343 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 22847163 | 3717 | JAK2 | umls:C0040028 | BeFree | Chronic myeloproliferative neoplasms (MPN) are clonal disorders of hematopoietic stem cells, which fall into distinct categories based on a number of characteristics including the presence of the BCR-ABL1 gene fusion (chronic myelogenous leukemia) or the JAK2(V617F) mutation (polycythemia vera, primary myelofibrosis, and essential thrombocythemia). | 0.461781343 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 20472827 | 3717 | JAK2 | umls:C0040028 | BeFree | In conclusion, constitutive heterozygous expression of JAK2(V617F) in mice is not embryo-lethal but results in severe PV-like disease with secondary myelofibrosis and not in ET-like disease as expected from patient study. | 0.461781343 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 19965680 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 25189723 | 811 | CALR | umls:C0040028 | BeFree | Molecular profiling must include the analysis of JAK2 (looking for the V617F point-mutation in PV and ET, screening exon 12 for mutations only in V617F-negative PV), CALR and MPL mutations (both in V617F-negative ET). | 0.247600372 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 22304488 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 19235016 | 3717 | JAK2 | umls:C0040028 | BeFree | JAK2 V617F mutation in essential thrombocythemia: correlation with clinical characteristics, response to therapy and long-term outcome in a cohort of 275 patients. | 0.461781343 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 19816006 | 3717 | JAK2 | umls:C0040028 | BeFree | Absence of the V617F JAK2 mutation in the lymphoid compartment in a patient with essential thrombocythemia and B-chronic lymphocytic leukemia and in two relatives with lymphoproliferative disorders. | 0.461781343 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 25116182 | 3717 | JAK2 | umls:C0040028 | BeFree | Migraine-like cerebral transient ischemic attacks (MIAs) and ocular ischemic manifestations were the main presenting features in 10 JAK2(V617F)-positive patients studied, with essential thrombocythemia (ET) in 6 and polycythemia vera (PV) in 4. | 0.461781343 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 21228032 | 4352 | MPL | umls:C0040028 | BeFree | Only one patient with essential thrombocythemia carried both JAK2 (V617F) and MPL (W515L). | 0.28895414 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 24895336 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 20890078 | 3717 | JAK2 | umls:C0040028 | BeFree | JAK2 V617F and MPL W515L/K mutations in Korean patients with essential thrombocythemia. | 0.461781343 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 18616871 | 3717 | JAK2 | umls:C0040028 | BeFree | High prevalence of arterial thrombosis in JAK2 mutated essential thrombocythaemia: independence of the V617F allele burden. | 0.461781343 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 16885051 | 3717 | JAK2 | umls:C0040028 | BeFree | An acquired translocation in JAK2 Val617Phe-negative essential thrombocythemia associated with autosomal spread of X-inactivation. | 0.461781343 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 22847163 | 613 | BCR | umls:C0040028 | BeFree | Chronic myeloproliferative neoplasms (MPN) are clonal disorders of hematopoietic stem cells, which fall into distinct categories based on a number of characteristics including the presence of the BCR-ABL1 gene fusion (chronic myelogenous leukemia) or the JAK2(V617F) mutation (polycythemia vera, primary myelofibrosis, and essential thrombocythemia). | 0.005167327 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 16293597 | 3717 | JAK2 | umls:C0040028 | BeFree | Most patients with polycythemia vera and half with idiopathic myelofibrosis and essential thrombocythemia have an acquired V617F mutation in JAK2. | 0.461781343 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 18849073 | 7535 | ZAP70 | umls:C0040028 | BeFree | We report two cases of ET with Jak 2 V617F in Zap-70+ CLL. | 0.000271442 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 21904853 | 3417 | IDH1 | umls:C0040028 | BeFree | We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132), IDH2 (R140 and R172), and c-CBL (exons 8 and 9) in 62 MPN patients (52 essential thrombocythemia (ET), five polycythemia vera (PV), and five primary myelofibrosis (PMF)) negative for both JAK2 (V617F and exon 12) and MPL (exon 10) mutations. | 0.003181358 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 18768782 | 3717 | JAK2 | umls:C0040028 | BeFree | We used the thrombin generation assay to evaluate the hypercoagulable state according to JAK2(V617F) mutational status in essential thrombocythemia (ET) and polycythemia vera (PV) patients. | 0.461781343 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 18166784 | 3717 | JAK2 | umls:C0040028 | BeFree | The JAK2(V617F) mutant allele burden contributes to determining the clinical phenotype in patients with essential thrombocythemia. | 0.461781343 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 18612778 | 3717 | JAK2 | umls:C0040028 | BeFree | Megakaryopoiesis and platelet function in polycythemia vera and essential thrombocythemia patients with JAK2 V617F mutation. | 0.461781343 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 15781101 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 23213945 | 3717 | JAK2 | umls:C0040028 | BeFree | The JAK2-V617F mutation significantly correlated with higher leukocyte count and alkaline phosphatase co re in ET group and with higher platelets count, leukocyte alkaline phosphatase score and serum lactate dehydrogenase in PV group. | 0.461781343 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 18786436 | 3717 | JAK2 | umls:C0040028 | BeFree | Recurrent der(9;18) in essential thrombocythemia with JAK2 V617F is highly linked to myelofibrosis development. | 0.461781343 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 21082983 | 3717 | JAK2 | umls:C0040028 | BeFree | Dysregulated signaling is a hallmark of chronic myeloproliferative neoplasms (MPNs), as evidenced by the identification of the activating JAK2 V617F somatic mutation in almost all patients with polycythemia vera (PV) and 50-60% of essential thrombocythemia and primary myelofibrosis patients. | 0.461781343 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 21219298 | 3717 | JAK2 | umls:C0040028 | BeFree | Modulation of JAK2 V617F allele burden dynamics by hydroxycarbamide in polycythaemia vera and essential thrombocythaemia patients. | 0.461781343 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 24957246 | 83886 | PRSS27 | umls:C0040028 | BeFree | Patients with JAK2 V617F-positive MPN have a heterogeneous histology while CALR-positive ET is associated with megakaryocyte abnormalities and prefibrotic PMF. | 0.002714419 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 16197445 | 57126 | CD177 | umls:C0040028 | 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. | 0.01114898 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 18632151 | 3717 | JAK2 | umls:C0040028 | BeFree | Is JAK2 V617F mutation more than a diagnostic index? A meta-analysis of clinical outcomes in essential thrombocythemia. | 0.461781343 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 16456375 | 3717 | JAK2 | umls:C0040028 | BeFree | Although it is in vogue to consider essential thrombocythemia as more than one disease in terms of both molecular phenotype (presence or absence of JAK2(V617F)) and putative pattern of myelopoiesis (monoclonal versus polyclonal), it is yet to be shown that such differences influence either the natural history of the disease or current therapy. | 0.461781343 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 20362232 | 3717 | JAK2 | umls:C0040028 | BeFree | JAK2 V617F-positive essential thrombocythemia in a patient with Klinefelter syndrome: a case report. | 0.461781343 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 19222478 | 3717 | JAK2 | umls:C0040028 | BeFree | The production of JAK2 wild-type platelets is not downregulated in patients with JAK2 V617F mutant-positive essential thrombocythaemia. | 0.461781343 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 20008195 | 3717 | JAK2 | umls:C0040028 | BeFree | When present in a heterozygous state the JAK2-V617F mutation preferentially stimulates megakaryopoiesis and in most cases manifests as essential thrombocythemia (ET), whereas homozygous JAK2-V617F reduces megakaryopoiesis in favor of increased erythropoiesis, resulting in polycythemia vera and/or myelofibrosis. | 0.461781343 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 17011030 | 3717 | JAK2 | umls:C0040028 | BeFree | Tyk2 mutation homologous to V617F Jak2 is not found in essential thrombocythaemia, although it induces constitutive signaling and growth factor independence. | 0.461781343 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 16728702 | 3717 | JAK2 | umls:C0040028 | BeFree | The JAK2-V617F mutation is frequently present at diagnosis in patients with essential thrombocythemia and polycythemia vera. | 0.461781343 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 22006129 | 3717 | JAK2 | umls:C0040028 | 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). | 0.461781343 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 20434300 | 3717 | JAK2 | umls:C0040028 | BeFree | He was diagnosed with essential thrombocythemia after he tested positive for the JAK2 V617F mutation. | 0.461781343 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 19167611 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 18079739 | 3717 | JAK2 | umls:C0040028 | BeFree | We investigated the activity of ITF2357, a novel histone deacetylase inhibitor (HDACi) with antitumor activity, on cells carrying the JAK2(V617F) mutation obtained from polycythemia vera (PV) and essential thrombocythemia (ET) patients as well as the HEL cell line. | 0.461781343 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 26228487 | 3717 | JAK2 | umls:C0040028 | 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). | 0.461781343 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 20890078 | 4352 | MPL | umls:C0040028 | BeFree | JAK2 V617F and MPL W515L/K mutations in Korean patients with essential thrombocythemia. | 0.28895414 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 20528738 | 3717 | JAK2 | umls:C0040028 | 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). | 0.461781343 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 22722988 | 3717 | JAK2 | umls:C0040028 | BeFree | Evaluation of the JAK2-V617F gene mutation in Turkish patients with essential thrombocythemia and polycythemia vera. | 0.461781343 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 19582452 | 3717 | JAK2 | umls:C0040028 | BeFree | Increased risk of recurrent thrombosis in patients with essential thrombocythemia carrying the homozygous JAK2 V617F mutation. | 0.461781343 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 24858412 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2015 | NA | NA | NA | NA | NA |
| rs386626619 | 26028965 | 3717 | JAK2 | umls:C0040028 | BeFree | Impact of JAK2(V617F) mutation status on treatment response to anagrelide in essential thrombocythemia: an observational, hypothesis-generating study. | 0.461781343 | 2016 | NA | NA | NA | NA | NA |
| rs386626619 | 23613267 | 3717 | JAK2 | umls:C0040028 | BeFree | Two CML patients who subsequently developed features of essential thrombocythemia with JAK2-V617F mutation while in complete cytogenetic remission after treatment with imatinib mesylate. | 0.461781343 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 18166783 | 3717 | JAK2 | umls:C0040028 | BeFree | The prevalence of homozygous JAK2-V617F mutation in RARS-T suggests that this entity is biologically distinct from essential thrombocythemia. | 0.461781343 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 25116092 | 3717 | JAK2 | umls:C0040028 | BeFree | JAK2/MPL wild-type, CALR mutated hypercellular ET associated with PMGM is featured by dense clustered large immature dysmorphic megakaryocytes and bulky (cloud-like) hyperchromatic nuclei, which are never seen in WHO-ECMP-defined JAK2(V617F) mutated ET, EMGM and PV, and neither in JAK2 wild-type ET carrying the MPL(515) mutation. | 0.461781343 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 16919893 | 57126 | CD177 | umls:C0040028 | 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. | 0.01114898 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 17285276 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 18033315 | 3717 | JAK2 | umls:C0040028 | BeFree | We conclude that in vivo expression of JAK2 V617F results in ET-, PMF- and PV-like disease. | 0.461781343 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 17255768 | 3717 | JAK2 | umls:C0040028 | BeFree | The frequency of the JAK2 V617F was 73% (85% in PV, 65% in ET, and 65% in CIMF). | 0.461781343 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 16197445 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 22364960 | 3717 | JAK2 | umls:C0040028 | BeFree | The presence of JAK2 V617F mutation is a cause of primary thrombocythemia and myelofibrosis in acromegaly. | 0.461781343 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 20331763 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 22041374 | 3717 | JAK2 | umls:C0040028 | 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). | 0.461781343 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 21219298 | 56955 | MEPE | umls:C0040028 | BeFree | The modulation of JAK2 V617F allele burden dynamics was prospectively analysed in 47 patients (26 polycythaemia vera [PV] and 21 essential thrombocythaemia [ET]) treated with first-line hydroxyurea (HU) and compared with the JAK2 V617F dynamics of a control group of 45 PV and ET patients. | 0.000542884 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 16210033 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 16930139 | 3717 | JAK2 | umls:C0040028 | BeFree | Fli-1 mRNA expression was significantly higher in Essential thrombocythaemia (ET) with JAK2 (V617F) compared with other Ph(-) CMPD and control (P < 0.001). | 0.461781343 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 20670476 | 3717 | JAK2 | umls:C0040028 | BeFree | To perform a multivariate analysis by Cox proportional hazard model of the impact of JAK2 V617F mutation on thrombosis and myeloid transformations in patients with essential thrombocythemia (ET). | 0.461781343 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 19120370 | 3717 | JAK2 | umls:C0040028 | BeFree | Recently, it has become clear that patients meeting WHO criteria for RARS-T have clonal JAK2(V617F) and MPL(W515) mutations at a similar rate to essential thrombocythaemia (ET). | 0.461781343 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 18166783 | 5917 | RARS | umls:C0040028 | BeFree | The prevalence of homozygous JAK2-V617F mutation in RARS-T suggests that this entity is biologically distinct from essential thrombocythemia. | 0.000542884 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 19299003 | 3717 | JAK2 | umls:C0040028 | BeFree | Association of V617F Jak2 mutation with the risk of thrombosis among patients with essential thrombocythaemia or idiopathic myelofibrosis: a systematic review. | 0.461781343 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 24609764 | 3717 | JAK2 | umls:C0040028 | BeFree | Approximately half of the patients with ET harbor a gain-of-function mutation in the JAK2 gene (JAK2-V617F), a small percentage have mutations in codon 515 of MPL (thrombopoietin receptor) gene, and the rest have neither mutation. | 0.461781343 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 17023581 | 3717 | JAK2 | umls:C0040028 | BeFree | Long-term serial analysis of X-chromosome inactivation patterns and JAK2 V617F mutant levels in patients with essential thrombocythemia show that minor mutant-positive clones can remain stable for many years. | 0.461781343 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 19826111 | 3717 | JAK2 | umls:C0040028 | BeFree | The JAK2(V617F) mutation was detected in 18 patients with ET and 38 patients with PV; sequential measurements by a pyrosequencing assay were available in 16 patients with ET and 35 patients with PV. | 0.461781343 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 22818858 | 3717 | JAK2 | umls:C0040028 | BeFree | Eleven JAK2(V617F) mutated patients developed 13 deep splanchnic thromboses in PV and ET. | 0.461781343 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 24820309 | 3717 | JAK2 | umls:C0040028 | BeFree | Together, these results support the concept that activating Stat1 in the presence of JAK2-V617F, for example, through IFNγ, constrains erythroid differentiation and promotes megakaryocytic development, resulting in ET phenotype. | 0.461781343 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 22300941 | 3717 | JAK2 | umls:C0040028 | BeFree | Deregulation of apoptosis-related genes is associated with PRV1 overexpression and JAK2 V617F allele burden in Essential Thrombocythemia and Myelofibrosis. | 0.461781343 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 17920754 | 4352 | MPL | umls:C0040028 | BeFree | The Janus kinase 2 mutation, JAK2 (V617F), and megakaryocytic mutations, MPL (W515L/K), have been identified and correlated with a subtype of essential thrombocythemia (ET) patients. | 0.28895414 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 22065597 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 20489053 | 3717 | JAK2 | umls:C0040028 | BeFree | JAK2 V617F impairs hematopoietic stem cell function in a conditional knock-in mouse model of JAK2 V617F-positive essential thrombocythemia. | 0.461781343 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 22300941 | 57126 | CD177 | umls:C0040028 | BeFree | Deregulation of apoptosis-related genes is associated with PRV1 overexpression and JAK2 V617F allele burden in Essential Thrombocythemia and Myelofibrosis. | 0.01114898 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 22686448 | 3717 | JAK2 | umls:C0040028 | BeFree | Further investigations for intracoronary thrombus with no underlying atherosclerotic disease revealed positive Janus kinase 2 (JAK2) V617F gene mutation, and this was consistent with a diagnosis of ET with elevated platelet count. | 0.461781343 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 22041356 | 3717 | JAK2 | umls:C0040028 | BeFree | In contrast, 68% of essential thrombocythemia (ET) patients have the JAK2-V617F mutation in at least one of the lineages, of which 70% of these patients have the JAK2-V617F mutation in three lineages; the remaining ET patients with the JAK2-V617F mutation only exhibited the mutation in one or two lineages. | 0.461781343 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 19541820 | 3717 | JAK2 | umls:C0040028 | BeFree | In essential thrombocythemia (ET), the JAK2-V617F mutation is usually restricted to a subpopulation of neutrophils and platelets, and production of JAK2 wild-type (WT) platelets is not suppressed. | 0.461781343 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 17011030 | 7297 | TYK2 | umls:C0040028 | BeFree | Tyk2 mutation homologous to V617F Jak2 is not found in essential thrombocythaemia, although it induces constitutive signaling and growth factor independence. | 0.000271442 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 16919893 | 2056 | EPO | umls:C0040028 | 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. | 0.001628651 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 18575049 | 3717 | JAK2 | umls:C0040028 | 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). | 0.461781343 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 25042466 | 3717 | JAK2 | umls:C0040028 | BeFree | Thrombophilia abnormalities were significantly more prevalent in the MPN-CVT and MPN-VT than in MPN-NoT group (P = 0.015), as well as the JAK2 V617F mutation in patients with essential thrombocythemia (P = 0.059). | 0.461781343 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 16912229 | 3717 | JAK2 | umls:C0040028 | 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). | 0.461781343 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 19965650 | 3717 | JAK2 | umls:C0040028 | BeFree | The acquired somatic Janus kinase 2 (JAK2) V617F mutation is present in the majority of PV and ET patients. | 0.461781343 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 21893442 | 3717 | JAK2 | umls:C0040028 | BeFree | Patients with MVT and CVT were negative for JAK2 V617F, except one patient with CVT and a diagnosis of essential thrombocythemia. | 0.461781343 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 19616600 | 83886 | PRSS27 | umls:C0040028 | 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. | 0.002714419 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 19176988 | 3717 | JAK2 | umls:C0040028 | BeFree | Retrospective data have identified JAK2(V617F) as a risk factor for thrombosis in ET, and have also shown a close association with abdominal vein thrombosis. | 0.461781343 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 20551270 | 3717 | JAK2 | umls:C0040028 | BeFree | The JAK2(V617F)mutation is recurrent in polycythemia vera and essential thrombocythemia, which are myeloproliferative neoplasms frequently associated with arterial and venous thromboembolism. | 0.461781343 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 20587663 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 20633767 | 3717 | JAK2 | umls:C0040028 | BeFree | A 66-year-old man who presented with progressive and marked thrombocytosis but normal hemoglobin was diagnosed to have essential thrombocythemia upon the demonstration of JAK2 V617F mutation. | 0.461781343 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 18720212 | 3717 | JAK2 | umls:C0040028 | BeFree | Finally, a significant correlation between JAK2 V617F mutational status and hematocrit (Ht), white blood cell and platelet counts in PV patients, and Ht values in ET cases, was observed by AS-PCR. | 0.461781343 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 17145859 | 3717 | JAK2 | umls:C0040028 | 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). | 0.461781343 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 25040297 | 3717 | JAK2 | umls:C0040028 | BeFree | The objective of the present study was to evaluate the diagnostic accuracy of serum EPO and JAK2 V617F allele burden as markers of PV as well as the combination of different diagnostic criteria in 287 patients (99 with PV, 137 with Essential Thrombocythaemia and 51 with non-clonal erythrocytosis). | 0.461781343 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 24084459 | 3717 | JAK2 | umls:C0040028 | BeFree | The JAK2 V617F mutation was strong predictor for thrombosis in essential thrombocytemia patients (relative risk=3.1, 95% CI = 1.7-16.4, p = 0.03). | 0.461781343 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 24903629 | 3717 | JAK2 | umls:C0040028 | BeFree | Open-label study of oral CEP-701 (lestaurtinib) in patients with polycythaemia vera or essential thrombocythaemia with JAK2-V617F mutation. | 0.461781343 | 2013 | NA | NA | NA | NA | NA |
| rs7046736 | 18006699 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2008 | JAK2;INSL6 | 9 | 5015732 | C | A |
| rs77375493 | 17145859 | 3717 | JAK2 | umls:C0040028 | 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). | 0.461781343 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 24903629 | 3717 | JAK2 | umls:C0040028 | BeFree | Open-label study of oral CEP-701 (lestaurtinib) in patients with polycythaemia vera or essential thrombocythaemia with JAK2-V617F mutation. | 0.461781343 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19093167 | 3717 | JAK2 | umls:C0040028 | BeFree | Comparison of clinicopathologic findings according to JAK2 V617F mutation in patients with essential thrombocythemia. | 0.461781343 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19120370 | 4352 | MPL | umls:C0040028 | BeFree | Recently, it has become clear that patients meeting WHO criteria for RARS-T have clonal JAK2(V617F) and MPL(W515) mutations at a similar rate to essential thrombocythaemia (ET). | 0.28895414 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22333011 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20888389 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19826111 | 3717 | JAK2 | umls:C0040028 | BeFree | The JAK2(V617F) mutation was detected in 18 patients with ET and 38 patients with PV; sequential measurements by a pyrosequencing assay were available in 16 patients with ET and 35 patients with PV. | 0.461781343 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16210033 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23666689 | 3717 | JAK2 | umls:C0040028 | 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). | 0.461781343 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17439832 | 3717 | JAK2 | umls:C0040028 | BeFree | Catastrophic intra-abdominal thrombosis can result from a variety of prothrombotic states, including polycythemia vera and essential thrombocythemia, both of which are frequently associated with an acquired mutation (V617F) in the JAK2 gene. | 0.461781343 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16210034 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25116092 | 811 | CALR | umls:C0040028 | BeFree | JAK2/MPL wild-type, CALR mutated hypercellular ET associated with PMGM is featured by dense clustered large immature dysmorphic megakaryocytes and bulky (cloud-like) hyperchromatic nuclei, which are never seen in WHO-ECMP-defined JAK2(V617F) mutated ET, EMGM and PV, and neither in JAK2 wild-type ET carrying the MPL(515) mutation. | 0.247600372 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16919893 | 57126 | CD177 | umls:C0040028 | 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. | 0.01114898 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25042466 | 3717 | JAK2 | umls:C0040028 | BeFree | Thrombophilia abnormalities were significantly more prevalent in the MPN-CVT and MPN-VT than in MPN-NoT group (P = 0.015), as well as the JAK2 V617F mutation in patients with essential thrombocythemia (P = 0.059). | 0.461781343 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 24265174 | 3717 | JAK2 | umls:C0040028 | BeFree | Two JAK2 V617F positive patients showed baseline platelet counts indicative for ET and a third patient developed ET during follow up, finally resulting in a percentage of 0.188% of ET cases. | 0.461781343 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18300758 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17920754 | 4352 | MPL | umls:C0040028 | BeFree | The Janus kinase 2 mutation, JAK2 (V617F), and megakaryocytic mutations, MPL (W515L/K), have been identified and correlated with a subtype of essential thrombocythemia (ET) patients. | 0.28895414 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16916724 | 3717 | JAK2 | umls:C0040028 | BeFree | Genetic heterogeneity of granulocytes for the JAK2 V617F mutation in essential thrombocythaemia: implications for mutation detection in peripheral blood. | 0.461781343 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18723264 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16912229 | 3717 | JAK2 | umls:C0040028 | 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). | 0.461781343 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18166783 | 5917 | RARS | umls:C0040028 | BeFree | The prevalence of homozygous JAK2-V617F mutation in RARS-T suggests that this entity is biologically distinct from essential thrombocythemia. | 0.000542884 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22847163 | 613 | BCR | umls:C0040028 | BeFree | Chronic myeloproliferative neoplasms (MPN) are clonal disorders of hematopoietic stem cells, which fall into distinct categories based on a number of characteristics including the presence of the BCR-ABL1 gene fusion (chronic myelogenous leukemia) or the JAK2(V617F) mutation (polycythemia vera, primary myelofibrosis, and essential thrombocythemia). | 0.005167327 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20890078 | 3717 | JAK2 | umls:C0040028 | BeFree | JAK2 V617F and MPL W515L/K mutations in Korean patients with essential thrombocythemia. | 0.461781343 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20331763 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18723264 | 947 | CD34 | umls:C0040028 | 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. | 0.002442977 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19616600 | 83886 | PRSS27 | umls:C0040028 | 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. | 0.002714419 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18720212 | 3717 | JAK2 | umls:C0040028 | BeFree | Finally, a significant correlation between JAK2 V617F mutational status and hematocrit (Ht), white blood cell and platelet counts in PV patients, and Ht values in ET cases, was observed by AS-PCR. | 0.461781343 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23994117 | 3717 | JAK2 | umls:C0040028 | BeFree | MPL mutation testing is recommended in patients with suspected primary myelofibrosis or essential thrombocythemia who lack the JAK2 V617F mutation. | 0.461781343 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19965650 | 3717 | JAK2 | umls:C0040028 | BeFree | The acquired somatic Janus kinase 2 (JAK2) V617F mutation is present in the majority of PV and ET patients. | 0.461781343 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18768782 | 3717 | JAK2 | umls:C0040028 | BeFree | We used the thrombin generation assay to evaluate the hypercoagulable state according to JAK2(V617F) mutational status in essential thrombocythemia (ET) and polycythemia vera (PV) patients. | 0.461781343 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25012914 | 3717 | JAK2 | umls:C0040028 | BeFree | Evaluation of clinical and laboratory findings with JAK2 V617F mutation as an independent variable in essential thrombocytosis. | 0.461781343 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19843380 | 613 | BCR | umls:C0040028 | BeFree | In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation and the MPL W515K mutation; 17 patients with essential thrombocythemia (ET), eight with polycythemia vera (PV), four with primary mielofibrosis (MF), five with undifferentiated MPN, one with primary erythrocytosis and one with familial thrombocytosis. | 0.005167327 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20587663 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17183644 | 3717 | JAK2 | umls:C0040028 | BeFree | The lack of thrombocytosis suggests that additional events may be required for JAK2 V617F to cause ET, but qualitative platelet abnormalities induced by JAK2 V617F may contribute to the hemostatic complications of PV. | 0.461781343 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20362232 | 3717 | JAK2 | umls:C0040028 | BeFree | JAK2 V617F-positive essential thrombocythemia in a patient with Klinefelter syndrome: a case report. | 0.461781343 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 24957246 | 811 | CALR | umls:C0040028 | BeFree | Patients with JAK2 V617F-positive MPN have a heterogeneous histology while CALR-positive ET is associated with megakaryocyte abnormalities and prefibrotic PMF. | 0.247600372 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16885051 | 3717 | JAK2 | umls:C0040028 | BeFree | An acquired translocation in JAK2 Val617Phe-negative essential thrombocythemia associated with autosomal spread of X-inactivation. | 0.461781343 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25139350 | 4352 | MPL | umls:C0040028 | BeFree | Calreticulin mutations (CALR(MUT)) are found in a significant proportion of patients with essential thrombocythemia (ET) lacking JAK2(V617F) or MPL mutations. | 0.28895414 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16670082 | 3717 | JAK2 | umls:C0040028 | BeFree | The JAK2/V617F mutation has been noted in essential thrombocytemia. | 0.461781343 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 15781101 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19235016 | 3717 | JAK2 | umls:C0040028 | BeFree | JAK2 V617F mutation in essential thrombocythemia: correlation with clinical characteristics, response to therapy and long-term outcome in a cohort of 275 patients. | 0.461781343 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23391844 | 3717 | JAK2 | umls:C0040028 | BeFree | The JAK2 V617F mutation has been detected in patients with classical myeloproliferative disorders (MPD) including polycythemia vera and essential thrombocythemia and idiopathic myelofibrosis. | 0.461781343 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17389152 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17934351 | 3717 | JAK2 | umls:C0040028 | BeFree | Retrospective data have identified JAK2 V617F as a risk factor for thrombosis in essential thrombocythemia, and have also shown a tight association between JAK2 V617F and abdominal vein thrombosis. | 0.461781343 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22300941 | 3717 | JAK2 | umls:C0040028 | BeFree | Deregulation of apoptosis-related genes is associated with PRV1 overexpression and JAK2 V617F allele burden in Essential Thrombocythemia and Myelofibrosis. | 0.461781343 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16197445 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25189723 | 3717 | JAK2 | umls:C0040028 | BeFree | Molecular profiling must include the analysis of JAK2 (looking for the V617F point-mutation in PV and ET, screening exon 12 for mutations only in V617F-negative PV), CALR and MPL mutations (both in V617F-negative ET). | 0.461781343 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22796437 | 3717 | JAK2 | umls:C0040028 | BeFree | We recently developed a Janus kinase 2 (Jak2) small molecule inhibitor called G6 and found that it exhibits marked efficacy in a xenograft model of Jak2-V617F-mediated hyperplasia and a transgenic mouse model of Jak2-V617F-mediated polycythemia vera/essential thrombocytosis. | 0.461781343 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 24820309 | 3717 | JAK2 | umls:C0040028 | BeFree | Together, these results support the concept that activating Stat1 in the presence of JAK2-V617F, for example, through IFNγ, constrains erythroid differentiation and promotes megakaryocytic development, resulting in ET phenotype. | 0.461781343 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19176988 | 3717 | JAK2 | umls:C0040028 | BeFree | Retrospective data have identified JAK2(V617F) as a risk factor for thrombosis in ET, and have also shown a close association with abdominal vein thrombosis. | 0.461781343 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18632151 | 3717 | JAK2 | umls:C0040028 | BeFree | Is JAK2 V617F mutation more than a diagnostic index? A meta-analysis of clinical outcomes in essential thrombocythemia. | 0.461781343 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21082983 | 3717 | JAK2 | umls:C0040028 | BeFree | Dysregulated signaling is a hallmark of chronic myeloproliferative neoplasms (MPNs), as evidenced by the identification of the activating JAK2 V617F somatic mutation in almost all patients with polycythemia vera (PV) and 50-60% of essential thrombocythemia and primary myelofibrosis patients. | 0.461781343 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16930139 | 102606463 | LINC01152 | umls:C0040028 | BeFree | Fli-1 mRNA expression was significantly higher in Essential thrombocythaemia (ET) with JAK2 (V617F) compared with other Ph(-) CMPD and control (P < 0.001). | 0.000814326 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25746303 | 4352 | MPL | umls:C0040028 | BeFree | We studied 1088 Chinese with diverse myeloproliferative neoplasms including ET (N=234) and PMF (N=50) without JAK2(V617F) or MPL exon 10 mutations. | 0.28895414 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19816006 | 3717 | JAK2 | umls:C0040028 | BeFree | Absence of the V617F JAK2 mutation in the lymphoid compartment in a patient with essential thrombocythemia and B-chronic lymphocytic leukemia and in two relatives with lymphoproliferative disorders. | 0.461781343 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19105233 | 2152 | F3 | umls:C0040028 | BeFree | These results support a role for platelet turnover, factor V, and aAPCR in the thrombosis of ET as well as the association between JAK2 V617F allele burden and either decreased free PS or increased TF and soluble markers of platelet and endothelial activation. | 0.000542884 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23469088 | 3717 | JAK2 | umls:C0040028 | BeFree | Lastly, JAK2 V617F mutant allele burden was found much higher in polycythemia vera (PV) patients [median(P25-P75): 45.02%(35.12%-54.22%)] than in essential thrombocythemia (ET) patients [median(P25-P75): 28.23%(17.77%-41.66%)], and that it increased with WBC counts (r = 0.393, p = 0.000) and RBC counts(r = 0.215, p = 0.001), other than platelet counts (r = -0.051, p = 0.452). | 0.461781343 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17920754 | 3717 | JAK2 | umls:C0040028 | BeFree | The Janus kinase 2 mutation, JAK2 (V617F), and megakaryocytic mutations, MPL (W515L/K), have been identified and correlated with a subtype of essential thrombocythemia (ET) patients. | 0.461781343 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22555824 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20615083 | 3717 | JAK2 | umls:C0040028 | BeFree | Plasma levels of angiogenic factors and circulating endothelial cells in essential thrombocythemia: correlation with cytoreductive therapy and JAK2-V617F mutational status. | 0.461781343 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19941738 | 3717 | JAK2 | umls:C0040028 | BeFree | We found an association between JAK2 V617F and thrombotic events in patients with PV and ET. | 0.461781343 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 24084459 | 3717 | JAK2 | umls:C0040028 | BeFree | The JAK2 V617F mutation was strong predictor for thrombosis in essential thrombocytemia patients (relative risk=3.1, 95% CI = 1.7-16.4, p = 0.03). | 0.461781343 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17587878 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21904853 | 867 | CBL | umls:C0040028 | 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 | 18612778 | 4597 | MVD | umls:C0040028 | 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. | 0.001900093 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17577920 | 3717 | JAK2 | umls:C0040028 | BeFree | V617F JAK-2 mutation in patients with essential thrombocythemia: relation to platelet, granulocyte, and plasma hemostatic and inflammatory molecules. | 0.461781343 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18166783 | 3717 | JAK2 | umls:C0040028 | BeFree | The prevalence of homozygous JAK2-V617F mutation in RARS-T suggests that this entity is biologically distinct from essential thrombocythemia. | 0.461781343 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20434300 | 3717 | JAK2 | umls:C0040028 | BeFree | He was diagnosed with essential thrombocythemia after he tested positive for the JAK2 V617F mutation. | 0.461781343 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17229651 | 3717 | JAK2 | umls:C0040028 | BeFree | We compared the laboratory and clinical findings of 179 patients with essential thrombocythemia (ET) and 77 with polycythemia vera (PV) classified according to the presence of the JAK2 V617F mutation. | 0.461781343 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18769448 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 24957246 | 3717 | JAK2 | umls:C0040028 | BeFree | Patients with JAK2 V617F-positive MPN have a heterogeneous histology while CALR-positive ET is associated with megakaryocyte abnormalities and prefibrotic PMF. | 0.461781343 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22041374 | 3717 | JAK2 | umls:C0040028 | 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). | 0.461781343 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 24553179 | 3717 | JAK2 | umls:C0040028 | BeFree | Patients with CALR-mutated ET showed a higher platelet count (P = .017) and a lower cumulative incidence of thrombosis (P = .036) and of disease progression (P = .047) compared with those with JAK2 (V617F). | 0.461781343 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17255768 | 3717 | JAK2 | umls:C0040028 | BeFree | The frequency of the JAK2 V617F was 73% (85% in PV, 65% in ET, and 65% in CIMF). | 0.461781343 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25189723 | 4352 | MPL | umls:C0040028 | BeFree | Molecular profiling must include the analysis of JAK2 (looking for the V617F point-mutation in PV and ET, screening exon 12 for mutations only in V617F-negative PV), CALR and MPL mutations (both in V617F-negative ET). | 0.28895414 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21219298 | 56955 | MEPE | umls:C0040028 | BeFree | The modulation of JAK2 V617F allele burden dynamics was prospectively analysed in 47 patients (26 polycythaemia vera [PV] and 21 essential thrombocythaemia [ET]) treated with first-line hydroxyurea (HU) and compared with the JAK2 V617F dynamics of a control group of 45 PV and ET patients. | 0.000542884 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23613267 | 3717 | JAK2 | umls:C0040028 | BeFree | Two CML patients who subsequently developed features of essential thrombocythemia with JAK2-V617F mutation while in complete cytogenetic remission after treatment with imatinib mesylate. | 0.461781343 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17961178 | 3717 | JAK2 | umls:C0040028 | BeFree | The JAK2 V617F allele burden in essential thrombocythemia, polycythemia vera and primary myelofibrosis--impact on disease phenotype. | 0.461781343 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17011030 | 3717 | JAK2 | umls:C0040028 | BeFree | Tyk2 mutation homologous to V617F Jak2 is not found in essential thrombocythaemia, although it induces constitutive signaling and growth factor independence. | 0.461781343 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21219298 | 3717 | JAK2 | umls:C0040028 | BeFree | Modulation of JAK2 V617F allele burden dynamics by hydroxycarbamide in polycythaemia vera and essential thrombocythaemia patients. | 0.461781343 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17178722 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 24957246 | 83886 | PRSS27 | umls:C0040028 | BeFree | Patients with JAK2 V617F-positive MPN have a heterogeneous histology while CALR-positive ET is associated with megakaryocyte abnormalities and prefibrotic PMF. | 0.002714419 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25139350 | 3717 | JAK2 | umls:C0040028 | BeFree | Calreticulin mutations (CALR(MUT)) are found in a significant proportion of patients with essential thrombocythemia (ET) lacking JAK2(V617F) or MPL mutations. | 0.461781343 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19691103 | 3717 | JAK2 | umls:C0040028 | BeFree | JAK2 (V617F)-positive ET may evolve in few instances into JAK2-negative leukemia. | 0.461781343 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16728702 | 3717 | JAK2 | umls:C0040028 | BeFree | The JAK2-V617F mutation is frequently present at diagnosis in patients with essential thrombocythemia and polycythemia vera. | 0.461781343 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19120370 | 3717 | JAK2 | umls:C0040028 | BeFree | Recently, it has become clear that patients meeting WHO criteria for RARS-T have clonal JAK2(V617F) and MPL(W515) mutations at a similar rate to essential thrombocythaemia (ET). | 0.461781343 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16810609 | 4597 | MVD | umls:C0040028 | 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. | 0.001900093 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23430670 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19299003 | 3717 | JAK2 | umls:C0040028 | BeFree | Association of V617F Jak2 mutation with the risk of thrombosis among patients with essential thrombocythaemia or idiopathic myelofibrosis: a systematic review. | 0.461781343 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17369568 | 57126 | CD177 | umls:C0040028 | BeFree | Children and adults with sporadic ET showed a similar proportion of patients with PRV-1 RNA overexpression, JAK2 V617F mutation, and clonality, while none of the familial ET showed JAK2 V617F mutation and clonality. | 0.01114898 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18802948 | 3717 | JAK2 | umls:C0040028 | BeFree | Frequency and clinical features of the JAK2 V617F mutation in pediatric patients with sporadic essential thrombocythemia. | 0.461781343 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18838204 | 335 | APOA1 | umls:C0040028 | BeFree | Finally, the JAK2-V617F load did not influence serum apolipoprotein A-1 levels in ET, a previously validated marker of JAK2-V617F allele burden in PV. | 0.000271442 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25746303 | 3717 | JAK2 | umls:C0040028 | BeFree | We studied 1088 Chinese with diverse myeloproliferative neoplasms including ET (N=234) and PMF (N=50) without JAK2(V617F) or MPL exon 10 mutations. | 0.461781343 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17011030 | 7297 | TYK2 | umls:C0040028 | BeFree | Tyk2 mutation homologous to V617F Jak2 is not found in essential thrombocythaemia, although it induces constitutive signaling and growth factor independence. | 0.000271442 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25934766 | 4352 | MPL | umls:C0040028 | BeFree | In a retrospective study, we examined the frequency of MPL and CALR mutations in JAK2 V617F-negative cases of essential thrombocythemia (n=103). | 0.28895414 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20489053 | 3717 | JAK2 | umls:C0040028 | BeFree | JAK2 V617F impairs hematopoietic stem cell function in a conditional knock-in mouse model of JAK2 V617F-positive essential thrombocythemia. | 0.461781343 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19222478 | 3717 | JAK2 | umls:C0040028 | BeFree | The production of JAK2 wild-type platelets is not downregulated in patients with JAK2 V617F mutant-positive essential thrombocythaemia. | 0.461781343 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25968903 | 3717 | JAK2 | umls:C0040028 | BeFree | The 2005 JAK2 V617F discovery and the 2008 WHO diagnostic guideline for the JAK2 V617F mutation coincide with a 31 % increase in ET and a 21 % decrease in PV incidence rates. | 0.461781343 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17369568 | 3717 | JAK2 | umls:C0040028 | BeFree | Children and adults with sporadic ET showed a similar proportion of patients with PRV-1 RNA overexpression, JAK2 V617F mutation, and clonality, while none of the familial ET showed JAK2 V617F mutation and clonality. | 0.461781343 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16741247 | 3717 | JAK2 | umls:C0040028 | BeFree | The detection rate of JAK2 V617F mutants for polycythemia vera, chronic idiopathic myelofibrosis, and essential thrombocythemia (n = 103) was similar to the previously reported results. | 0.461781343 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20670476 | 3717 | JAK2 | umls:C0040028 | BeFree | To perform a multivariate analysis by Cox proportional hazard model of the impact of JAK2 V617F mutation on thrombosis and myeloid transformations in patients with essential thrombocythemia (ET). | 0.461781343 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16325696 | 3717 | JAK2 | umls:C0040028 | BeFree | Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study. | 0.461781343 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18600099 | 3717 | JAK2 | umls:C0040028 | BeFree | Evidence of jak2 val617phe positive essential thrombocythemia with splanchnic thrombosis during estroprogestinic treatment. | 0.461781343 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19105233 | 3717 | JAK2 | umls:C0040028 | BeFree | Platelet turnover, coagulation factors, and soluble markers of platelet and endothelial activation in essential thrombocythemia: relationship with thrombosis occurrence and JAK2 V617F allele burden. | 0.461781343 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 24609764 | 3717 | JAK2 | umls:C0040028 | BeFree | Approximately half of the patients with ET harbor a gain-of-function mutation in the JAK2 gene (JAK2-V617F), a small percentage have mutations in codon 515 of MPL (thrombopoietin receptor) gene, and the rest have neither mutation. | 0.461781343 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20890078 | 4352 | MPL | umls:C0040028 | BeFree | JAK2 V617F and MPL W515L/K mutations in Korean patients with essential thrombocythemia. | 0.28895414 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22300941 | 57126 | CD177 | umls:C0040028 | BeFree | Deregulation of apoptosis-related genes is associated with PRV1 overexpression and JAK2 V617F allele burden in Essential Thrombocythemia and Myelofibrosis. | 0.01114898 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20472827 | 3717 | JAK2 | umls:C0040028 | BeFree | In conclusion, constitutive heterozygous expression of JAK2(V617F) in mice is not embryo-lethal but results in severe PV-like disease with secondary myelofibrosis and not in ET-like disease as expected from patient study. | 0.461781343 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16930139 | 3717 | JAK2 | umls:C0040028 | BeFree | Fli-1 mRNA expression was significantly higher in Essential thrombocythaemia (ET) with JAK2 (V617F) compared with other Ph(-) CMPD and control (P < 0.001). | 0.461781343 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22065597 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22818858 | 3717 | JAK2 | umls:C0040028 | BeFree | Eleven JAK2(V617F) mutated patients developed 13 deep splanchnic thromboses in PV and ET. | 0.461781343 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17266061 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17687555 | 3717 | JAK2 | umls:C0040028 | BeFree | JAK2(V617F) positive early stage myeloproliferative disease (essential thrombocythemia) as the cause of portal vein thrombosis in two middle-aged women: therapeutic implications in view of the literature. | 0.461781343 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19167611 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16456375 | 3717 | JAK2 | umls:C0040028 | BeFree | Although it is in vogue to consider essential thrombocythemia as more than one disease in terms of both molecular phenotype (presence or absence of JAK2(V617F)) and putative pattern of myelopoiesis (monoclonal versus polyclonal), it is yet to be shown that such differences influence either the natural history of the disease or current therapy. | 0.461781343 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25116092 | 3717 | JAK2 | umls:C0040028 | BeFree | JAK2/MPL wild-type, CALR mutated hypercellular ET associated with PMGM is featured by dense clustered large immature dysmorphic megakaryocytes and bulky (cloud-like) hyperchromatic nuclei, which are never seen in WHO-ECMP-defined JAK2(V617F) mutated ET, EMGM and PV, and neither in JAK2 wild-type ET carrying the MPL(515) mutation. | 0.461781343 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22686448 | 3717 | JAK2 | umls:C0040028 | BeFree | Further investigations for intracoronary thrombus with no underlying atherosclerotic disease revealed positive Janus kinase 2 (JAK2) V617F gene mutation, and this was consistent with a diagnosis of ET with elevated platelet count. | 0.461781343 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 24811089 | 3717 | JAK2 | umls:C0040028 | BeFree | All of our PV patients with thrombosis and most of our ET patients with thrombosis (76.1%) were JAK2 V617F mutation-positive. | 0.461781343 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18612778 | 3717 | JAK2 | umls:C0040028 | BeFree | Megakaryopoiesis and platelet function in polycythemia vera and essential thrombocythemia patients with JAK2 V617F mutation. | 0.461781343 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 24858412 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17976520 | 3717 | JAK2 | umls:C0040028 | BeFree | Among patients with PV and ET, methylation of the PRV-1 gene is also inversely correlated with the presence of the JAK2(V617F) somatic mutation. | 0.461781343 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18849073 | 7535 | ZAP70 | umls:C0040028 | BeFree | We report two cases of ET with Jak 2 V617F in Zap-70+ CLL. | 0.000271442 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18166784 | 3717 | JAK2 | umls:C0040028 | BeFree | The JAK2(V617F) mutant allele burden contributes to determining the clinical phenotype in patients with essential thrombocythemia. | 0.461781343 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19120370 | 5917 | RARS | umls:C0040028 | BeFree | Recently, it has become clear that patients meeting WHO criteria for RARS-T have clonal JAK2(V617F) and MPL(W515) mutations at a similar rate to essential thrombocythaemia (ET). | 0.000542884 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19965680 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22041356 | 3717 | JAK2 | umls:C0040028 | BeFree | In contrast, 68% of essential thrombocythemia (ET) patients have the JAK2-V617F mutation in at least one of the lineages, of which 70% of these patients have the JAK2-V617F mutation in three lineages; the remaining ET patients with the JAK2-V617F mutation only exhibited the mutation in one or two lineages. | 0.461781343 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22722988 | 3717 | JAK2 | umls:C0040028 | BeFree | Evaluation of the JAK2-V617F gene mutation in Turkish patients with essential thrombocythemia and polycythemia vera. | 0.461781343 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22304488 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16919893 | 2056 | EPO | umls:C0040028 | 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. | 0.001628651 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18786436 | 3717 | JAK2 | umls:C0040028 | BeFree | Recurrent der(9;18) in essential thrombocythemia with JAK2 V617F is highly linked to myelofibrosis development. | 0.461781343 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16197445 | 57126 | CD177 | umls:C0040028 | 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. | 0.01114898 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22884083 | 3717 | JAK2 | umls:C0040028 | BeFree | JAK2 V617F positive essential thrombocythemia developing in a patient with CD5⁻ chronic lymphocytic leukemia. | 0.461781343 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18838204 | 3717 | JAK2 | umls:C0040028 | BeFree | Proteomic study of the impact of the JAK2-V617F mutation on the phenotype of essential thrombocythemia. | 0.461781343 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21893442 | 3717 | JAK2 | umls:C0040028 | BeFree | Patients with MVT and CVT were negative for JAK2 V617F, except one patient with CVT and a diagnosis of essential thrombocythemia. | 0.461781343 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18575049 | 3717 | JAK2 | umls:C0040028 | 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). | 0.461781343 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25189723 | 811 | CALR | umls:C0040028 | BeFree | Molecular profiling must include the analysis of JAK2 (looking for the V617F point-mutation in PV and ET, screening exon 12 for mutations only in V617F-negative PV), CALR and MPL mutations (both in V617F-negative ET). | 0.247600372 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20528738 | 3717 | JAK2 | umls:C0040028 | 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). | 0.461781343 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19843380 | 25 | ABL1 | umls:C0040028 | BeFree | In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation and the MPL W515K mutation; 17 patients with essential thrombocythemia (ET), eight with polycythemia vera (PV), four with primary mielofibrosis (MF), five with undifferentiated MPN, one with primary erythrocytosis and one with familial thrombocytosis. | 0.007610304 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25259626 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 24582788 | 3717 | JAK2 | umls:C0040028 | BeFree | We report the case of an untreated 32-year-old woman with a history of JAK2 V617F-positive ET with cerebellar and subarachnoid hemorrhages without evidence of sinus vein thrombosis. | 0.461781343 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16954506 | 3717 | JAK2 | umls:C0040028 | BeFree | The JAK2 V617F mutation has recently been described as an essential oncogenic event associated with polycythemia vera (PV), idiopathic myelofibrosis (IMF), and essential thrombocythemia. | 0.461781343 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25139350 | 811 | CALR | umls:C0040028 | BeFree | Calreticulin mutations (CALR(MUT)) are found in a significant proportion of patients with essential thrombocythemia (ET) lacking JAK2(V617F) or MPL mutations. | 0.247600372 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19541820 | 3717 | JAK2 | umls:C0040028 | BeFree | In essential thrombocythemia (ET), the JAK2-V617F mutation is usually restricted to a subpopulation of neutrophils and platelets, and production of JAK2 wild-type (WT) platelets is not suppressed. | 0.461781343 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16810614 | 3717 | JAK2 | umls:C0040028 | BeFree | The role of JAK2 V617F mutation, spontaneous erythropoiesis and megakaryocytopoiesis, hypersensitive platelets, activated leukocytes, and endothelial cells in the etiology of thrombotic manifestations in polycythemia vera and essential thrombocythemia. | 0.461781343 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20633767 | 3717 | JAK2 | umls:C0040028 | BeFree | A 66-year-old man who presented with progressive and marked thrombocytosis but normal hemoglobin was diagnosed to have essential thrombocythemia upon the demonstration of JAK2 V617F mutation. | 0.461781343 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25171702 | 3717 | JAK2 | umls:C0040028 | BeFree | Megakaryocytic morphology also differed between primary myelofibrosis JAK2 V617F and essential thrombocythemia JAK2 V617F. | 0.461781343 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 26228487 | 3717 | JAK2 | umls:C0040028 | 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). | 0.461781343 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19616600 | 3717 | JAK2 | umls:C0040028 | BeFree | JAK2(V617F) allele burden discriminates essential thrombocythemia from a subset of prefibrotic-stage primary myelofibrosis. | 0.461781343 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21904853 | 3417 | IDH1 | umls:C0040028 | BeFree | We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132), IDH2 (R140 and R172), and c-CBL (exons 8 and 9) in 62 MPN patients (52 essential thrombocythemia (ET), five polycythemia vera (PV), and five primary myelofibrosis (PMF)) negative for both JAK2 (V617F and exon 12) and MPL (exon 10) mutations. | 0.003181358 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17262192 | 3717 | JAK2 | umls:C0040028 | BeFree | We conclude that megakaryocytes might be the predominant or even the exclusive lineage that acquires the JAK2(V617F) mutation in ET and that the JAK2(V617F) evolution to higher gene dosages represents a dynamic and complex process substantially involving megakaryocytes. | 0.461781343 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16810609 | 3717 | JAK2 | umls:C0040028 | BeFree | The clinical and pathological data on JAK2 V617F-positive MPD patients suggest that the JAK2 V617F mutation defines one disease entity with several sequential steps of ET, PV, and secondary myelofibrosis during long-term follow-up, and that the wild-type JAK2 MPDs may represent another distinct entity with a related but different molecular etiology. | 0.461781343 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 24463275 | 3717 | JAK2 | umls:C0040028 | BeFree | In this study, we compared the plasma cytokine profiles of polycythemia vera (PV) patients and essential thrombocythemia (ET) patients as a function of their JAK2 V617F status and the presence of thrombohemorrhagic complications. | 0.461781343 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20551270 | 3717 | JAK2 | umls:C0040028 | BeFree | The JAK2(V617F)mutation is recurrent in polycythemia vera and essential thrombocythemia, which are myeloproliferative neoplasms frequently associated with arterial and venous thromboembolism. | 0.461781343 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20008195 | 3717 | JAK2 | umls:C0040028 | BeFree | When present in a heterozygous state the JAK2-V617F mutation preferentially stimulates megakaryopoiesis and in most cases manifests as essential thrombocythemia (ET), whereas homozygous JAK2-V617F reduces megakaryopoiesis in favor of increased erythropoiesis, resulting in polycythemia vera and/or myelofibrosis. | 0.461781343 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17285276 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19582452 | 3717 | JAK2 | umls:C0040028 | BeFree | Increased risk of recurrent thrombosis in patients with essential thrombocythemia carrying the homozygous JAK2 V617F mutation. | 0.461781343 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20339092 | 4778 | NFE2 | umls:C0040028 | 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. | 0.000814326 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16293597 | 3717 | JAK2 | umls:C0040028 | BeFree | Most patients with polycythemia vera and half with idiopathic myelofibrosis and essential thrombocythemia have an acquired V617F mutation in JAK2. | 0.461781343 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 24895336 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20104275 | 57126 | CD177 | umls:C0040028 | BeFree | We retrospectively analysed laboratory and clinical findings of 106 consecutive patients with ET to evaluate possible relationships between thrombosis, abnormal bleeding, peripheral blood count, overexpression of PRV1 and JAK2(V617F) mutational status. | 0.01114898 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16772604 | 3717 | JAK2 | umls:C0040028 | BeFree | An acquired V617F JAK2 mutation occurs in patients with polycythemia vera (PV) or essential thrombocythemia (ET). | 0.461781343 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16537803 | 3717 | JAK2 | umls:C0040028 | 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). | 0.461781343 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19468275 | 3717 | JAK2 | umls:C0040028 | BeFree | Meta-analyses in essential thrombocythemia documented Janus kinase 2 (JAK2) V617F as being associated with increased risk of thrombosis. | 0.461781343 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19336736 | 3717 | JAK2 | umls:C0040028 | BeFree | Influence of the JAK2 V617F mutation and inherited thrombophilia on the thrombotic risk among patients with essential thrombocythemia. | 0.461781343 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 26028965 | 3717 | JAK2 | umls:C0040028 | BeFree | Impact of JAK2(V617F) mutation status on treatment response to anagrelide in essential thrombocythemia: an observational, hypothesis-generating study. | 0.461781343 | 2016 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16919893 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18616871 | 3717 | JAK2 | umls:C0040028 | BeFree | High prevalence of arterial thrombosis in JAK2 mutated essential thrombocythaemia: independence of the V617F allele burden. | 0.461781343 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23213945 | 3717 | JAK2 | umls:C0040028 | BeFree | The JAK2-V617F mutation significantly correlated with higher leukocyte count and alkaline phosphatase co re in ET group and with higher platelets count, leukocyte alkaline phosphatase score and serum lactate dehydrogenase in PV group. | 0.461781343 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19843380 | 3717 | JAK2 | umls:C0040028 | BeFree | Of the 17 individuals with ET, six (35%) had the JAK2 V617F mutation and one (6%) was found to have the MPL W515L mutation. | 0.461781343 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17317861 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21228032 | 4352 | MPL | umls:C0040028 | BeFree | Only one patient with essential thrombocythemia carried both JAK2 (V617F) and MPL (W515L). | 0.28895414 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18079739 | 3717 | JAK2 | umls:C0040028 | BeFree | We investigated the activity of ITF2357, a novel histone deacetylase inhibitor (HDACi) with antitumor activity, on cells carrying the JAK2(V617F) mutation obtained from polycythemia vera (PV) and essential thrombocythemia (ET) patients as well as the HEL cell line. | 0.461781343 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22006129 | 3717 | JAK2 | umls:C0040028 | 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). | 0.461781343 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22847163 | 3717 | JAK2 | umls:C0040028 | BeFree | Chronic myeloproliferative neoplasms (MPN) are clonal disorders of hematopoietic stem cells, which fall into distinct categories based on a number of characteristics including the presence of the BCR-ABL1 gene fusion (chronic myelogenous leukemia) or the JAK2(V617F) mutation (polycythemia vera, primary myelofibrosis, and essential thrombocythemia). | 0.461781343 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17023581 | 3717 | JAK2 | umls:C0040028 | BeFree | Long-term serial analysis of X-chromosome inactivation patterns and JAK2 V617F mutant levels in patients with essential thrombocythemia show that minor mutant-positive clones can remain stable for many years. | 0.461781343 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17875526 | 3717 | JAK2 | umls:C0040028 | 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. | 0.461781343 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20966521 | 3717 | JAK2 | umls:C0040028 | BeFree | The Janus-associated Kinase-2 mutation JAK2 V617F in chronic myeloproliferative disorders (CMPDs) has been described as a frequent genetic event in majority of patients with polycythemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF). | 0.461781343 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21228032 | 3717 | JAK2 | umls:C0040028 | BeFree | Only one patient with essential thrombocythemia carried both JAK2 (V617F) and MPL (W515L). | 0.461781343 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25040297 | 3717 | JAK2 | umls:C0040028 | BeFree | The objective of the present study was to evaluate the diagnostic accuracy of serum EPO and JAK2 V617F allele burden as markers of PV as well as the combination of different diagnostic criteria in 287 patients (99 with PV, 137 with Essential Thrombocythaemia and 51 with non-clonal erythrocytosis). | 0.461781343 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18033315 | 3717 | JAK2 | umls:C0040028 | BeFree | We conclude that in vivo expression of JAK2 V617F results in ET-, PMF- and PV-like disease. | 0.461781343 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25746303 | 811 | CALR | umls:C0040028 | BeFree | Frequency and allele burden of CALR mutations in Chinese with essential thrombocythemia and primary myelofibrosis without JAK2(V617F) or MPL mutations. | 0.247600372 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22364960 | 3717 | JAK2 | umls:C0040028 | BeFree | The presence of JAK2 V617F mutation is a cause of primary thrombocythemia and myelofibrosis in acromegaly. | 0.461781343 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22847163 | 25 | ABL1 | umls:C0040028 | BeFree | Chronic myeloproliferative neoplasms (MPN) are clonal disorders of hematopoietic stem cells, which fall into distinct categories based on a number of characteristics including the presence of the BCR-ABL1 gene fusion (chronic myelogenous leukemia) or the JAK2(V617F) mutation (polycythemia vera, primary myelofibrosis, and essential thrombocythemia). | 0.007610304 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25116182 | 3717 | JAK2 | umls:C0040028 | BeFree | Migraine-like cerebral transient ischemic attacks (MIAs) and ocular ischemic manifestations were the main presenting features in 10 JAK2(V617F)-positive patients studied, with essential thrombocythemia (ET) in 6 and polycythemia vera (PV) in 4. | 0.461781343 | 2014 | 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:9) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0004420 | Arterial thrombosis | MP:0005048 | thrombosis | formation within a tissue or the vascular lumen of a thrombus, an aggregation of coagulated blood containing platelets, fibrin, and entrapped cellular elements |
| HP:0003540 | Impaired platelet aggregation | MP:0009548 | abnormal platelet aggregation | any functional anomaly in the adhesion of one platelet to one or more other platelets via adhesion molecules |
| HP:0002488 | Acute leukemia | MP:0005481 | increased chronic myelocytic leukemia incidence | higher than normal incidence of a heterogeneous group of myeloproliferative disorders that may evolve into acute leukemia in late stages |
| HP:0005513 | Increased megakaryocyte count | MP:0008254 | increased megakaryocyte cell number | greater number of giant cells 50 to 100 micron in diameter, with a greatly lobulated nucleus, found in the bone marrow; mature blood platelets are released from its cytoplasm |
| HP:0005561 | Abnormality of bone marrow cell morphology | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
| HP:0003010 | Prolonged bleeding time | MP:0005606 | increased bleeding time | greater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function |
| HP:0000924 | Abnormality of the skeletal system | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
| HP:0001872 | Abnormality of thrombocytes | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
| HP:0100659 | Abnormality of the cerebral vasculature | MP:0004499 | increased incidence of tumors by chemical induction | higher than normal frequency of tumor incidence induced by one or more chemical carcinogens or mutagens |
Mapped by homologous gene(Total Items:22) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002326 | Transient ischemic attack | MP:0013696 | increased granulocyte monocyte progenitor cell number | increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 |
| HP:0003401 | Paresthesia | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0004420 | Arterial thrombosis | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| HP:0001744 | Splenomegaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001872 | Abnormality of thrombocytes | MP:0014071 | increased cardiac muscle glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in heart muscle |
| HP:0002488 | Acute leukemia | MP:0013886 | increased CD4-negative, CD25-positive NK T cell number | increase in the number of CD4-negative NK T cells expressing the activation marker CD25 |
| HP:0011974 | Myelofibrosis | MP:0014071 | increased cardiac muscle glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in heart muscle |
| HP:0003010 | Prolonged bleeding time | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0100576 | Amaurosis fugax | MP:0014071 | increased cardiac muscle glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in heart muscle |
| HP:0100659 | Abnormality of the cerebral vasculature | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0005513 | Increased megakaryocyte count | MP:0011099 | lethality throughout fetal growth and development, complete penetrance | death of all organisms of a given genotype in a population between the completion of organogenesis and birth (Mus: E14 to approximately E18.5) |
| HP:0003540 | Impaired platelet aggregation | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0000924 | Abnormality of the skeletal system | MP:0014071 | increased cardiac muscle glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in heart muscle |
| HP:0001063 | Acrocyanosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0005561 | Abnormality of bone marrow cell morphology | MP:0014071 | increased cardiac muscle glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in heart muscle |
| HP:0004936 | Venous thrombosis | MP:0014166 | ectopic cranial bone | the appearance of an extra bone structure at an atypical location in or near the cranium |
| HP:0001658 | Myocardial infarction | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100749 | Chest pain | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001894 | Thrombocytosis | 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:0002863 | Myelodysplasia | 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: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:0000822 | Hypertension | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| Disease ID | 33 |
|---|---|
| Disease | essential thrombocythemia |
| Case | (Waiting for update.) |