PedAM
Pediatric Disease Annotations & Medicines
| chronic myelocytic leukemia | ||||
| Disease ID | 244 |
|---|---|
| Disease | chronic myelocytic leukemia |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 244 |
|---|---|
| Disease | chronic myelocytic leukemia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:22) C2364133 | infection C1963254 | tumor lysis syndrome C1963211 | pericarditis C1704327 | sarcoma of the bone C1696704 | ovarian hemorrhage C1516669 | clonal evolution C1282968 | type 2a von willebrand disease C1000483 | anemia C0947622 | gallstones C0543697 | mixed cryoglobulinemia C0497156 | lymphadenopathy C0474355 | peripheral retinal neovascularization C0235325 | gastric hemorrhage C0154946 | acute angle-closure glaucoma C0041321 | miliary tuberculosis C0034050 | alveolar proteinosis C0030920 | peptic ulcer C0024302 | reticulosarcoma C0007177 | cardiac tamponade C0005699 | blast crisis C0005699 | blast crises C0002878 | hemolytic anemia |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:122) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1045642 | 25301112 | 5243 | ABCB1 | umls:C0023473 | BeFree | Three ABCB1 SNPs (C1236T, G2677T, and C3435T) were genotyped in 100 Egyptian patients with CML undergoing IM therapy using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. | 0.019521409 | 2014 | ABCB1 | 7 | 87509329 | A | T,G |
| rs1128503 | 25301112 | 5243 | ABCB1 | umls:C0023473 | BeFree | Three ABCB1 SNPs (C1236T, G2677T, and C3435T) were genotyped in 100 Egyptian patients with CML undergoing IM therapy using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. | 0.019521409 | 2014 | ABCB1 | 7 | 87550285 | A | G |
| rs113488022 | 22845480 | 25 | ABL1 | umls:C0023473 | BeFree | Here, we discuss the current commonly used predictive pharmacogenetic biomarkers in clinical oncology molecular testing: BRAF V600E for vemurafenib in melanoma; EML4-ALK for crizotinib and EGFR for erlotinib and gefitinib in non-small-cell lung cancer; KRAS against the use of cetuximab and panitumumab in colorectal cancer; ERBB2 (HER2/neu) for trastuzumab in breast cancer; BCR-ABL for tyrosine kinase inhibitors in chronic myeloid leukemia; and PML/RARα for all-trans-retinoic acid and arsenic trioxide treatment for acute promyelocytic leukemia. | 0.371405336 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22845480 | 1956 | EGFR | umls:C0023473 | BeFree | Here, we discuss the current commonly used predictive pharmacogenetic biomarkers in clinical oncology molecular testing: BRAF V600E for vemurafenib in melanoma; EML4-ALK for crizotinib and EGFR for erlotinib and gefitinib in non-small-cell lung cancer; KRAS against the use of cetuximab and panitumumab in colorectal cancer; ERBB2 (HER2/neu) for trastuzumab in breast cancer; BCR-ABL for tyrosine kinase inhibitors in chronic myeloid leukemia; and PML/RARα for all-trans-retinoic acid and arsenic trioxide treatment for acute promyelocytic leukemia. | 0.001628651 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22845480 | 5371 | PML | umls:C0023473 | BeFree | Here, we discuss the current commonly used predictive pharmacogenetic biomarkers in clinical oncology molecular testing: BRAF V600E for vemurafenib in melanoma; EML4-ALK for crizotinib and EGFR for erlotinib and gefitinib in non-small-cell lung cancer; KRAS against the use of cetuximab and panitumumab in colorectal cancer; ERBB2 (HER2/neu) for trastuzumab in breast cancer; BCR-ABL for tyrosine kinase inhibitors in chronic myeloid leukemia; and PML/RARα for all-trans-retinoic acid and arsenic trioxide treatment for acute promyelocytic leukemia. | 0.001900093 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22845480 | 3845 | KRAS | umls:C0023473 | BeFree | Here, we discuss the current commonly used predictive pharmacogenetic biomarkers in clinical oncology molecular testing: BRAF V600E for vemurafenib in melanoma; EML4-ALK for crizotinib and EGFR for erlotinib and gefitinib in non-small-cell lung cancer; KRAS against the use of cetuximab and panitumumab in colorectal cancer; ERBB2 (HER2/neu) for trastuzumab in breast cancer; BCR-ABL for tyrosine kinase inhibitors in chronic myeloid leukemia; and PML/RARα for all-trans-retinoic acid and arsenic trioxide treatment for acute promyelocytic leukemia. | 0.00408156 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22845480 | 238 | ALK | umls:C0023473 | BeFree | Here, we discuss the current commonly used predictive pharmacogenetic biomarkers in clinical oncology molecular testing: BRAF V600E for vemurafenib in melanoma; EML4-ALK for crizotinib and EGFR for erlotinib and gefitinib in non-small-cell lung cancer; KRAS against the use of cetuximab and panitumumab in colorectal cancer; ERBB2 (HER2/neu) for trastuzumab in breast cancer; BCR-ABL for tyrosine kinase inhibitors in chronic myeloid leukemia; and PML/RARα for all-trans-retinoic acid and arsenic trioxide treatment for acute promyelocytic leukemia. | 0.000814326 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22845480 | 27436 | EML4 | umls:C0023473 | BeFree | Here, we discuss the current commonly used predictive pharmacogenetic biomarkers in clinical oncology molecular testing: BRAF V600E for vemurafenib in melanoma; EML4-ALK for crizotinib and EGFR for erlotinib and gefitinib in non-small-cell lung cancer; KRAS against the use of cetuximab and panitumumab in colorectal cancer; ERBB2 (HER2/neu) for trastuzumab in breast cancer; BCR-ABL for tyrosine kinase inhibitors in chronic myeloid leukemia; and PML/RARα for all-trans-retinoic acid and arsenic trioxide treatment for acute promyelocytic leukemia. | 0.000542884 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22845480 | 5914 | RARA | umls:C0023473 | BeFree | Here, we discuss the current commonly used predictive pharmacogenetic biomarkers in clinical oncology molecular testing: BRAF V600E for vemurafenib in melanoma; EML4-ALK for crizotinib and EGFR for erlotinib and gefitinib in non-small-cell lung cancer; KRAS against the use of cetuximab and panitumumab in colorectal cancer; ERBB2 (HER2/neu) for trastuzumab in breast cancer; BCR-ABL for tyrosine kinase inhibitors in chronic myeloid leukemia; and PML/RARα for all-trans-retinoic acid and arsenic trioxide treatment for acute promyelocytic leukemia. | 0.001357209 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22845480 | 2064 | ERBB2 | umls:C0023473 | BeFree | Here, we discuss the current commonly used predictive pharmacogenetic biomarkers in clinical oncology molecular testing: BRAF V600E for vemurafenib in melanoma; EML4-ALK for crizotinib and EGFR for erlotinib and gefitinib in non-small-cell lung cancer; KRAS against the use of cetuximab and panitumumab in colorectal cancer; ERBB2 (HER2/neu) for trastuzumab in breast cancer; BCR-ABL for tyrosine kinase inhibitors in chronic myeloid leukemia; and PML/RARα for all-trans-retinoic acid and arsenic trioxide treatment for acute promyelocytic leukemia. | 0.001628651 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs121908587 | 22447844 | 5156 | PDGFRA | umls:C0023473 | BeFree | The gate-keeper mutations T674I platelet-derived growth factor receptor α (PDGFRα) in hypereosinophilic syndrome (HES) and T315I Bcr-Abl in chronic myeloid leukemia (CML) are resistant to imatinib and the second-generation small-molecule tyrosine kinase inhibitors (TKI). | 0.002714419 | 2012 | PDGFRA | 4 | 54278380 | C | T |
| rs121912664 | 17361096 | 317 | APAF1 | umls:C0023473 | BeFree | Apaf1 in chronic myelogenous leukemia (CML) progression: reduced Apaf1 expression is correlated with a H179R p53 mutation during clinical blast crisis. | 0.008001298 | 2007 | TP53 | 17 | 7670699 | C | T,G,A |
| rs121912664 | 17361096 | 7157 | TP53 | umls:C0023473 | BeFree | Apaf1 in chronic myelogenous leukemia (CML) progression: reduced Apaf1 expression is correlated with a H179R p53 mutation during clinical blast crisis. | 0.023820871 | 2007 | TP53 | 17 | 7670699 | C | T,G,A |
| rs121913448 | 17130834 | 25 | ABL1 | umls:C0023473 | BeFree | Rottlerin also enhanced the cytotoxic effect of imatinib in leukemic cells from patients with CML blast crisis and Ph-positive ALL or a cell line expressing the imatinib-resistant E255K BCR/ABL mutant. | 0.371405336 | 2007 | ABL1 | 9 | 130862976 | G | A |
| rs121913451 | 18818391 | 25 | ABL1 | umls:C0023473 | BeFree | Characteristics and outcome of chronic myeloid leukemia patients with F317L BCR-ABL kinase domain mutation after therapy with tyrosine kinase inhibitors. | 0.371405336 | 2008 | ABL1 | 9 | 130872903 | C | G |
| rs121913459 | 17671436 | 25 | ABL1 | umls:C0023473 | BeFree | We recently showed that inhibition of heat shock protein 90 (Hsp90) by a novel Hsp90 inhibitor, IPI- 504, causes BCR-ABL protein degradation, decreased numbers of leukemia stem cells, and prolonged survival of mice with CML induced by BCR-ABL-T315I. | 0.371405336 | 2007 | ABL1 | 9 | 130872896 | C | T |
| rs121913459 | 22021366 | 25 | ABL1 | umls:C0023473 | BeFree | Treatment with these inhibitors results in potent suppression of chronic myeloid leukemia leukemic precursors and Ph(+) acute lymphoblastic leukemia cells, including cells expressing the T315I-BCR-ABL mutation. | 0.371405336 | 2011 | ABL1 | 9 | 130872896 | C | T |
| rs121913459 | 21350558 | 25 | ABL1 | umls:C0023473 | BeFree | In this study, we show that human homolog double minute 2 (HDM2) inhibition, with MI-219-a novel compound, and consequently p53 stabilization induce chronic myeloid leukemia (CML) blast crisis cells to undergo apoptosis regardless of the presence of the T315I mutation in the BCR-ABL kinase domain. | 0.371405336 | 2011 | ABL1 | 9 | 130872896 | C | T |
| rs121913459 | 21350558 | 7157 | TP53 | umls:C0023473 | BeFree | In this study, we show that human homolog double minute 2 (HDM2) inhibition, with MI-219-a novel compound, and consequently p53 stabilization induce chronic myeloid leukemia (CML) blast crisis cells to undergo apoptosis regardless of the presence of the T315I mutation in the BCR-ABL kinase domain. | 0.023820871 | 2011 | ABL1 | 9 | 130872896 | C | T |
| rs121913459 | 21486895 | 613 | BCR | umls:C0023473 | BeFree | The BCR-ABL1 T315I mutation imparts resistance to tyrosine kinase inhibitors currently available for treatment of chronic myelogenous leukaemia. | 0.39556717 | 2011 | ABL1 | 9 | 130872896 | C | T |
| rs121913459 | 18156496 | 25 | ABL1 | umls:C0023473 | BeFree | BMS-214662 was cytotoxic against CML blast crisis stem/progenitor cells, particularly in combination with a tyrosine kinase inhibitor and equally effective in cell lines harboring wild-type vs mutant BCR-ABL, including the T315I mutation. | 0.371405336 | 2008 | ABL1 | 9 | 130872896 | C | T |
| rs121913459 | 22262141 | 25 | ABL1 | umls:C0023473 | BeFree | The T315I BCR-ABL mutation in chronic myelogenous leukemia (CML) patients is responsible for up to 20% of all clinically observed resistance. | 0.371405336 | 2012 | ABL1 | 9 | 130872896 | C | T |
| rs121913459 | 22896000 | 25 | ABL1 | umls:C0023473 | BeFree | Chronic myeloid leukemia (CML) patients with the BCR-ABL T315I mutation do not benefit from therapy with currently approved tyrosine kinase inhibitors. | 0.371405336 | 2012 | ABL1 | 9 | 130872896 | C | T |
| rs121913459 | 23716543 | 25 | ABL1 | umls:C0023473 | BeFree | The BCR-ABL T315I mutation confers resistance to currently licensed tyrosine kinase inhibitors in chronic myelogenous leukemia. | 0.371405336 | 2014 | ABL1 | 9 | 130872896 | C | T |
| rs121913459 | 24004697 | 25 | ABL1 | umls:C0023473 | BeFree | The aim of this study was to evaluate proliferation inhibition and apoptosis induction by down-regulating PPP2R5C gene expression in the imatinib-sensitive and imatinib-resistant CML cell lines K562, K562R (imatinib resistant without an Abl gene mutation), 32D-Bcr-Abl WT (imatinib-sensitive murine CML cell line with a wild type Abl gene) and 32D-Bcr-Abl T315I (imatinib resistant with a T315I Abl gene mutation) and primary cells from CML patients by RNA interference. | 0.371405336 | 2013 | ABL1 | 9 | 130872896 | C | T |
| rs121913459 | 23187745 | 25 | ABL1 | umls:C0023473 | BeFree | The homoharringtonine derivative omacetaxine mepesuccinate, which inhibits protein synthesis, has also demonstrated clinical activity in CML, including in patients with TKI resistance due to T315I and in patients who have TKI resistance despite no evidence of ABL mutations. | 0.371405336 | 2012 | ABL1 | 9 | 130872896 | C | T |
| rs121913459 | 22489663 | 25 | ABL1 | umls:C0023473 | BeFree | Analysis of mutations in the BCR-ABL1 kinase domain, using direct sequencing: detection of the T315I mutation in bone marrow CD34+ cells of a patient with chronic myelogenous leukemia 6 months prior to its emergence in peripheral blood. | 0.371405336 | 2012 | ABL1 | 9 | 130872896 | C | T |
| rs121913459 | 20929330 | 25 | ABL1 | umls:C0023473 | BeFree | Extensive analysis of the T315I substitution and detection of additional ABL mutations in progenitors and primitive stem cell compartment in a patient with tyrosine kinase inhibitor-resistant chronic myeloid leukemia. | 0.371405336 | 2010 | ABL1 | 9 | 130872896 | C | T |
| rs121913459 | 22772060 | 25 | ABL1 | umls:C0023473 | BeFree | Eight of 18 patients with BCR-ABL T315I-mutated chronic myelogenous leukemia (44%) had hematologic responses and one of three patients (33%) with Philadelphia chromosome-positive acute lymphoblastic leukemia obtained complete remission. | 0.371405336 | 2013 | ABL1 | 9 | 130872896 | C | T |
| rs121913459 | 21486895 | 25 | ABL1 | umls:C0023473 | BeFree | The BCR-ABL1 T315I mutation imparts resistance to tyrosine kinase inhibitors currently available for treatment of chronic myelogenous leukaemia. | 0.371405336 | 2011 | ABL1 | 9 | 130872896 | C | T |
| rs121913459 | 20657522 | 25 | ABL1 | umls:C0023473 | BeFree | The T315I mutation of BCR/ABL gene is known to produce complete resistance of chronic myelogenous leukemia (CML) to all currently available BCR/ABL inhibitors. | 0.371405336 | 2010 | ABL1 | 9 | 130872896 | C | T |
| rs121913459 | 20564073 | 25 | ABL1 | umls:C0023473 | BeFree | Stem cell transplantation for patients with chronic myeloid leukemia resistant to tyrosine kinase inhibitors with BCR-ABL kinase domain mutation T315I. | 0.371405336 | 2010 | ABL1 | 9 | 130872896 | C | T |
| rs121913459 | 16038734 | 25 | ABL1 | umls:C0023473 | BeFree | Assessment and follow-up of the proportion of T315I mutant BCR-ABL transcripts can guide appropriate therapeutic decision making in CML patients. | 0.371405336 | 2005 | ABL1 | 9 | 130872896 | C | T |
| rs121913459 | 19878872 | 25 | ABL1 | umls:C0023473 | BeFree | AP24534, a pan-BCR-ABL inhibitor for chronic myeloid leukemia, potently inhibits the T315I mutant and overcomes mutation-based resistance. | 0.371405336 | 2009 | ABL1 | 9 | 130872896 | C | T |
| rs121913459 | 24490604 | 25 | ABL1 | umls:C0023473 | BeFree | Bosutinib has shown activity against all phases of resistant chronic myeloid leukemia that do not harbor the T315I or V299L ABL kinase domain mutations. | 0.371405336 | 2014 | ABL1 | 9 | 130872896 | C | T |
| rs121913459 | 24258348 | 25 | ABL1 | umls:C0023473 | BeFree | Thus, a third-generation ABL TKI, ponatinib, was developed to inhibit all mutated BCR-ABL and showed clinical efficacy in CML cells harbouring T315I. | 0.371405336 | 2014 | ABL1 | 9 | 130872896 | C | T |
| rs121913459 | 17853901 | 25 | ABL1 | umls:C0023473 | BeFree | The second-generation BCR-ABL inhibitors nilotinib (Tasigna; Novartis) and dasatinib (Sprycel; Bristol-Myers Squibb) have shown significant activity after imatinib failure in clinical trials, but still face similar obstacles to imatinib, including negligible activity against the frequent BCR-ABL T315I mutation and modest effects in advanced phases of CML. | 0.371405336 | 2007 | ABL1 | 9 | 130872896 | C | T |
| rs121913459 | 25127392 | 25 | ABL1 | umls:C0023473 | BeFree | A phase 2 study of MK-0457 in patients with BCR-ABL T315I mutant chronic myelogenous leukemia and philadelphia chromosome-positive acute lymphoblastic leukemia. | 0.371405336 | 2014 | ABL1 | 9 | 130872896 | C | T |
| rs121913459 | 19843886 | 25 | ABL1 | umls:C0023473 | BeFree | Epidemiologic study on survival of chronic myeloid leukemia and Ph(+) acute lymphoblastic leukemia patients with BCR-ABL T315I mutation. | 0.371405336 | 2009 | ABL1 | 9 | 130872896 | C | T |
| rs121913459 | 20963643 | 25 | ABL1 | umls:C0023473 | BeFree | T315I mutation of the ABL-kinase domain in chronic myeloid leukemia (CML) confers resistance to imatinib (IM) as well as second-generation tyrosine kinase inhibitors (TKIs). | 0.371405336 | 2010 | ABL1 | 9 | 130872896 | C | T |
| rs121913459 | 16990603 | 25 | ABL1 | umls:C0023473 | BeFree | MK-0457, a novel kinase inhibitor, is active in patients with chronic myeloid leukemia or acute lymphocytic leukemia with the T315I BCR-ABL mutation. | 0.371405336 | 2007 | ABL1 | 9 | 130872896 | C | T |
| rs121913459 | 23065514 | 25 | ABL1 | umls:C0023473 | BeFree | The quantitative level of T315I mutated BCR-ABL predicts for major molecular response to second-line nilotinib or dasatinib treatment in patients with chronic myeloid leukemia. | 0.371405336 | 2013 | ABL1 | 9 | 130872896 | C | T |
| rs121913459 | 22489663 | 613 | BCR | umls:C0023473 | BeFree | It has been shown that the occurrence of the BCR-ABL1 T315I mutation leads to a very poor therapeutic outcome in chronic myelogenous leukemia (CML) patients treated with tyrosine kinase inhibitors. | 0.39556717 | 2012 | ABL1 | 9 | 130872896 | C | T |
| rs121913459 | 18628453 | 25 | ABL1 | umls:C0023473 | BeFree | Therapeutic options against BCR-ABL1 T315I-positive chronic myelogenous leukemia. | 0.371405336 | 2008 | ABL1 | 9 | 130872896 | C | T |
| rs121913459 | 21350558 | 4193 | MDM2 | umls:C0023473 | BeFree | In this study, we show that human homolog double minute 2 (HDM2) inhibition, with MI-219-a novel compound, and consequently p53 stabilization induce chronic myeloid leukemia (CML) blast crisis cells to undergo apoptosis regardless of the presence of the T315I mutation in the BCR-ABL kinase domain. | 0.002909916 | 2011 | ABL1 | 9 | 130872896 | C | T |
| rs121913516 | 23773153 | 3815 | KIT | umls:C0023473 | BeFree | Herein, by introducing adaptive elements into the inhibitor core structure, we undertake the structure-based development of type II hybrid inhibitors to overcome gatekeeper drug-resistant mutations in cSrc-T338M, as well as clinically relevant tyrosine kinase KIT-T670I and Abl-T315I variants, as essential targets in gastrointestinal stromal tumors (GISTs) and chronic myelogenous leukemia (CML). | 0.00706742 | 2014 | KIT | 4 | 54729353 | C | T |
| rs121913615 | 18464114 | 4352 | MPL | umls:C0023473 | 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). | 0.003181358 | 2008 | MPL | 1 | 43349338 | G | T |
| rs137852975 | 18057387 | 26580 | BSCL2 | umls:C0023473 | BeFree | Conclusion E189X is a novel BSCL2 gene mutation that contributes to CGL formation in a family of Chinese origin. | 0.003257302 | 2007 | BSCL2;HNRNPUL2-BSCL2 | 11 | 62692671 | C | A |
| rs1695 | 25188725 | 2950 | GSTP1 | umls:C0023473 | BeFree | There is an increased risk of CML in subjects with (i) deletions of genes encoding glutathione-S-transferase (GST)-θ1 (GSTT1) and -μ1, (GSTM1) and (ii) the GST-π1 (GSTP1) single-nucleotide polymorphism (SNP) Ile105Val (GSTP1*B; rs1695); however, their effects on imatinib treatment outcome are not known. | 0.123452799 | 2014 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 25188725 | 133482 | SLCO6A1 | umls:C0023473 | BeFree | There is an increased risk of CML in subjects with (i) deletions of genes encoding glutathione-S-transferase (GST)-θ1 (GSTT1) and -μ1, (GSTM1) and (ii) the GST-π1 (GSTP1) single-nucleotide polymorphism (SNP) Ile105Val (GSTP1*B; rs1695); however, their effects on imatinib treatment outcome are not known. | 0.001628651 | 2014 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 25188725 | 27306 | HPGDS | umls:C0023473 | BeFree | There is an increased risk of CML in subjects with (i) deletions of genes encoding glutathione-S-transferase (GST)-θ1 (GSTT1) and -μ1, (GSTM1) and (ii) the GST-π1 (GSTP1) single-nucleotide polymorphism (SNP) Ile105Val (GSTP1*B; rs1695); however, their effects on imatinib treatment outcome are not known. | 0.001900093 | 2014 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 20843134 | 2950 | GSTP1 | umls:C0023473 | BeFree | Association of the GSTP1 gene (Ile105Val) polymorphism with chronic myeloid leukemia. | 0.123452799 | 2010 | GSTP1 | 11 | 67585218 | A | G |
| rs2032582 | 23683876 | 5243 | ABCB1 | umls:C0023473 | BeFree | Association of MDR1 gene polymorphism (G2677T) with imatinib response in Egyptian chronic myeloid leukemia patients. | 0.019521409 | 2014 | ABCB1 | 7 | 87531302 | A | T,C |
| rs2032582 | 25301112 | 5243 | ABCB1 | umls:C0023473 | BeFree | Three ABCB1 SNPs (C1236T, G2677T, and C3435T) were genotyped in 100 Egyptian patients with CML undergoing IM therapy using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. | 0.019521409 | 2014 | ABCB1 | 7 | 87531302 | A | T,C |
| rs386626619 | 22234689 | 3717 | JAK2 | umls:C0023473 | BeFree | In the present study, we used mice with a conditional null mutation in the Stat5a/b gene locus to determine the requirement for STAT5 in MPNs induced by BCR-ABL1 and JAK2(V617F) in retroviral transplantation models of CML and PV. | 0.015873112 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 22847163 | 25 | ABL1 | umls:C0023473 | 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). | 0.371405336 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 21950422 | 3934 | LCN2 | umls:C0023473 | BeFree | LCN-2 mRNA showed a near 50-fold increase in expression, accompanied by down-regulation of SLC22A17, coinciding with increase in BCR-ABL transcripts, loss of JAK2-V617F and change of clinical phenotype from polycythaemia vera to chronic myeloid leukaemia. | 0.001085767 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 18479730 | 3717 | JAK2 | umls:C0023473 | BeFree | Abnormal nuclear megakaryocytic staining for phospho-STAT5 (pSTAT5) correlates with JAK2 V617F mutational status in non-chronic myelogenous leukemia chronic myeloproliferative disorders. | 0.015873112 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 17285276 | 25 | ABL1 | umls:C0023473 | 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. | 0.371405336 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 23846442 | 171023 | ASXL1 | umls:C0023473 | BeFree | Previous studies have reported FLT3 mutation in as many as 9.2% of myeloproliferative neoplasms (MPNs) and myelodysplastic/myeloproliferative neoplasms (MDS/MPNs), as well as in chronic myelogenous leukemia, that are negative for the JAK2 V617F gene mutation; no FLT3 mutation has been found in JAK2-positive MPNs, suggesting that the mutations are mutually exclusive. | 0.001628651 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 22847163 | 3717 | JAK2 | umls:C0023473 | 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). | 0.015873112 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 20538800 | 3717 | JAK2 | umls:C0023473 | BeFree | Moreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplasias (n = 96), a single case of acute lymphoblastic leukemia (n = 96), and none in chronic myeloid leukemias (n = 81). | 0.015873112 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 23613267 | 3717 | JAK2 | umls:C0023473 | BeFree | The present report describes two chronic myelogenous leukemia (CML) patients with the JAK2-V617F mutation who were in complete hematologic and cytogenetic remission and subsequently developed clinical features of essential thrombocythemia under treatment with tyrosine kinase inhibitors. | 0.015873112 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 21950422 | 3717 | JAK2 | umls:C0023473 | BeFree | LCN-2 mRNA showed a near 50-fold increase in expression, accompanied by down-regulation of SLC22A17, coinciding with increase in BCR-ABL transcripts, loss of JAK2-V617F and change of clinical phenotype from polycythaemia vera to chronic myeloid leukaemia. | 0.015873112 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 19641523 | 3717 | JAK2 | umls:C0023473 | BeFree | And finally, Will the benefits conferred by current or future JAK2(V617F) inhibitors equal or even surpass the clinical success that has resulted from the use of tyrosine kinase inhibitors in CML? | 0.015873112 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 23846442 | 3717 | JAK2 | umls:C0023473 | BeFree | Previous studies have reported FLT3 mutation in as many as 9.2% of myeloproliferative neoplasms (MPNs) and myelodysplastic/myeloproliferative neoplasms (MDS/MPNs), as well as in chronic myelogenous leukemia, that are negative for the JAK2 V617F gene mutation; no FLT3 mutation has been found in JAK2-positive MPNs, suggesting that the mutations are mutually exclusive. | 0.015873112 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 21722956 | 3717 | JAK2 | umls:C0023473 | BeFree | Abnormalities of tyrosine kinase proteins are well recognised in myeloid malignancies, mutation in the cytoplasmic tyrosine kinase JAK2 (V617F) is key in the pathogenesis of myeloproliferative neoplasms, and translocations involving ABL key in the development of chronic myeloid leukaemia. | 0.015873112 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 21198321 | 3717 | JAK2 | umls:C0023473 | BeFree | JAK2 V617F mutation was found to be positive in 100% of polycythemia vera cases, 68.29% of essential thrombocythemia cases, and 55.28% of all MPD cases whereas negative in idiopathic erythrocytosis, reactive thrombocytosis, and other non-MPD cases such as acute chronic myeloid leukemias. | 0.015873112 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 22234689 | 6777 | STAT5B | umls:C0023473 | BeFree | In the present study, we used mice with a conditional null mutation in the Stat5a/b gene locus to determine the requirement for STAT5 in MPNs induced by BCR-ABL1 and JAK2(V617F) in retroviral transplantation models of CML and PV. | 0.007328931 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 22847163 | 613 | BCR | umls:C0023473 | 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). | 0.39556717 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 21722956 | 4547 | MTTP | umls:C0023473 | BeFree | Abnormalities of tyrosine kinase proteins are well recognised in myeloid malignancies, mutation in the cytoplasmic tyrosine kinase JAK2 (V617F) is key in the pathogenesis of myeloproliferative neoplasms, and translocations involving ABL key in the development of chronic myeloid leukaemia. | 0.055374142 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 17285276 | 3717 | JAK2 | umls:C0023473 | 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. | 0.015873112 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 23846442 | 7531 | YWHAE | umls:C0023473 | BeFree | Previous studies have reported FLT3 mutation in as many as 9.2% of myeloproliferative neoplasms (MPNs) and myelodysplastic/myeloproliferative neoplasms (MDS/MPNs), as well as in chronic myelogenous leukemia, that are negative for the JAK2 V617F gene mutation; no FLT3 mutation has been found in JAK2-positive MPNs, suggesting that the mutations are mutually exclusive. | 0.001357209 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 20538800 | 3418 | IDH2 | umls:C0023473 | BeFree | Moreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplasias (n = 96), a single case of acute lymphoblastic leukemia (n = 96), and none in chronic myeloid leukemias (n = 81). | 0.000542884 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 23846442 | 54790 | TET2 | umls:C0023473 | BeFree | Previous studies have reported FLT3 mutation in as many as 9.2% of myeloproliferative neoplasms (MPNs) and myelodysplastic/myeloproliferative neoplasms (MDS/MPNs), as well as in chronic myelogenous leukemia, that are negative for the JAK2 V617F gene mutation; no FLT3 mutation has been found in JAK2-positive MPNs, suggesting that the mutations are mutually exclusive. | 0.001628651 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 17255768 | 613 | BCR | umls:C0023473 | BeFree | The recently described JAK2 V617F mutation, present in a substantial proportion of nonchronic myelogenous leukemia chronic myeloproliferative disorders (non-CML CMPDs), is changing the way we conceptualize and diagnose these diseases. | 0.39556717 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 23807288 | 3717 | JAK2 | umls:C0023473 | BeFree | However it is not so easy, because iPSCs from hematological malignancies have been established only from myeloproliferative neoplasms including chronic myelogenous leukemia (CML) and JAK2-V617F mutation-positive polycythemia vera (PV). | 0.015873112 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 23846442 | 23451 | SF3B1 | umls:C0023473 | BeFree | Previous studies have reported FLT3 mutation in as many as 9.2% of myeloproliferative neoplasms (MPNs) and myelodysplastic/myeloproliferative neoplasms (MDS/MPNs), as well as in chronic myelogenous leukemia, that are negative for the JAK2 V617F gene mutation; no FLT3 mutation has been found in JAK2-positive MPNs, suggesting that the mutations are mutually exclusive. | 0.001628651 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 23846442 | 2322 | FLT3 | umls:C0023473 | BeFree | Previous studies have reported FLT3 mutation in as many as 9.2% of myeloproliferative neoplasms (MPNs) and myelodysplastic/myeloproliferative neoplasms (MDS/MPNs), as well as in chronic myelogenous leukemia, that are negative for the JAK2 V617F gene mutation; no FLT3 mutation has been found in JAK2-positive MPNs, suggesting that the mutations are mutually exclusive. | 0.007991366 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 20538800 | 3417 | IDH1 | umls:C0023473 | BeFree | Moreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplasias (n = 96), a single case of acute lymphoblastic leukemia (n = 96), and none in chronic myeloid leukemias (n = 81). | 0.000542884 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 21950422 | 51310 | SLC22A17 | umls:C0023473 | BeFree | LCN-2 mRNA showed a near 50-fold increase in expression, accompanied by down-regulation of SLC22A17, coinciding with increase in BCR-ABL transcripts, loss of JAK2-V617F and change of clinical phenotype from polycythaemia vera to chronic myeloid leukaemia. | 0.000542884 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 21722956 | 25 | ABL1 | umls:C0023473 | BeFree | Abnormalities of tyrosine kinase proteins are well recognised in myeloid malignancies, mutation in the cytoplasmic tyrosine kinase JAK2 (V617F) is key in the pathogenesis of myeloproliferative neoplasms, and translocations involving ABL key in the development of chronic myeloid leukaemia. | 0.371405336 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 23846442 | 5048 | PAFAH1B1 | umls:C0023473 | BeFree | Previous studies have reported FLT3 mutation in as many as 9.2% of myeloproliferative neoplasms (MPNs) and myelodysplastic/myeloproliferative neoplasms (MDS/MPNs), as well as in chronic myelogenous leukemia, that are negative for the JAK2 V617F gene mutation; no FLT3 mutation has been found in JAK2-positive MPNs, suggesting that the mutations are mutually exclusive. | 0.001357209 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 24293258 | 3717 | JAK2 | umls:C0023473 | BeFree | The JAK2 V617F mutation is common in patients with Philadelphia-negative chronic myeloproliferative neoplasms, but few cases of the JAK2 V617F mutation have been described in Philadelphia-positive chronic myeloid leukemia (CML) patients. | 0.015873112 | 2013 | NA | NA | NA | NA | NA |
| rs387906517 | 17130834 | 25 | ABL1 | umls:C0023473 | BeFree | Rottlerin also enhanced the cytotoxic effect of imatinib in leukemic cells from patients with CML blast crisis and Ph-positive ALL or a cell line expressing the imatinib-resistant E255K BCR/ABL mutant. | 0.371405336 | 2007 | ABL1 | 9 | 130862919 | G | A |
| rs397507444 | 22576927 | 2952 | GSTT1 | umls:C0023473 | BeFree | We conducted a case-control study analyzing the prevalence of the polymorphisms MTHFR C677T, MTHFR A1298C, del{GSTM1}, del{GSTT1}, and haptoglobin in 105 patients with chronic myeloid leukemia (CML) and 273 healthy controls, using PCR-based methods. | 0.020097968 | 2012 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 24839819 | 4524 | MTHFR | umls:C0023473 | BeFree | Gene microarray was used to detect MTHFR C677T and A1298C single nucleotide polymorphism loci on 157 healthy controls and 127 patients from Jiangsu province with hematological malignancies (30 with multiple myeloma, 28 with non-Hodgkin's lymphoma, 22 with acute lymphoblastic leukemia, 40 with acute myeloid leukemia, and seven with chronic myeloid leukemia). | 0.021084047 | 2014 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 24966971 | 4524 | MTHFR | umls:C0023473 | BeFree | MTHFR A1298C and C677T gene polymorphisms and susceptibility to chronic myeloid leukemia in Egypt. | 0.021084047 | 2014 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 22576927 | 3240 | HP | umls:C0023473 | BeFree | We conducted a case-control study analyzing the prevalence of the polymorphisms MTHFR C677T, MTHFR A1298C, del{GSTM1}, del{GSTT1}, and haptoglobin in 105 patients with chronic myeloid leukemia (CML) and 273 healthy controls, using PCR-based methods. | 0.001085767 | 2012 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 16706930 | 4524 | MTHFR | umls:C0023473 | BeFree | Methylenetetrahydrofolate reductase A1298C genotypes are associated with the risks of acute lymphoblastic leukaemia and chronic myelogenous leukaemia in the Korean population. | 0.021084047 | 2006 | MTHFR | 1 | 11794407 | T | G |
| rs4149117 | 23394475 | 28234 | SLCO1B3 | umls:C0023473 | BeFree | Do SLCO1B3 (T334G) and CYP3A5*3 polymorphisms affect response in Egyptian chronic myeloid leukemia patients receiving imatinib therapy? | 0.000814326 | 2014 | SLCO1B3 | 12 | 20858546 | T | G |
| rs77375493 | 17285276 | 25 | ABL1 | umls:C0023473 | 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. | 0.371405336 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23846442 | 23451 | SF3B1 | umls:C0023473 | BeFree | Previous studies have reported FLT3 mutation in as many as 9.2% of myeloproliferative neoplasms (MPNs) and myelodysplastic/myeloproliferative neoplasms (MDS/MPNs), as well as in chronic myelogenous leukemia, that are negative for the JAK2 V617F gene mutation; no FLT3 mutation has been found in JAK2-positive MPNs, suggesting that the mutations are mutually exclusive. | 0.001628651 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18479730 | 3717 | JAK2 | umls:C0023473 | BeFree | Abnormal nuclear megakaryocytic staining for phospho-STAT5 (pSTAT5) correlates with JAK2 V617F mutational status in non-chronic myelogenous leukemia chronic myeloproliferative disorders. | 0.015873112 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22847163 | 25 | ABL1 | umls:C0023473 | 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). | 0.371405336 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22847163 | 3717 | JAK2 | umls:C0023473 | 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). | 0.015873112 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21198321 | 3717 | JAK2 | umls:C0023473 | BeFree | JAK2 V617F mutation was found to be positive in 100% of polycythemia vera cases, 68.29% of essential thrombocythemia cases, and 55.28% of all MPD cases whereas negative in idiopathic erythrocytosis, reactive thrombocytosis, and other non-MPD cases such as acute chronic myeloid leukemias. | 0.015873112 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22234689 | 3717 | JAK2 | umls:C0023473 | BeFree | In the present study, we used mice with a conditional null mutation in the Stat5a/b gene locus to determine the requirement for STAT5 in MPNs induced by BCR-ABL1 and JAK2(V617F) in retroviral transplantation models of CML and PV. | 0.015873112 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21950422 | 51310 | SLC22A17 | umls:C0023473 | BeFree | LCN-2 mRNA showed a near 50-fold increase in expression, accompanied by down-regulation of SLC22A17, coinciding with increase in BCR-ABL transcripts, loss of JAK2-V617F and change of clinical phenotype from polycythaemia vera to chronic myeloid leukaemia. | 0.000542884 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23846442 | 3717 | JAK2 | umls:C0023473 | BeFree | Previous studies have reported FLT3 mutation in as many as 9.2% of myeloproliferative neoplasms (MPNs) and myelodysplastic/myeloproliferative neoplasms (MDS/MPNs), as well as in chronic myelogenous leukemia, that are negative for the JAK2 V617F gene mutation; no FLT3 mutation has been found in JAK2-positive MPNs, suggesting that the mutations are mutually exclusive. | 0.015873112 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21722956 | 3717 | JAK2 | umls:C0023473 | BeFree | Abnormalities of tyrosine kinase proteins are well recognised in myeloid malignancies, mutation in the cytoplasmic tyrosine kinase JAK2 (V617F) is key in the pathogenesis of myeloproliferative neoplasms, and translocations involving ABL key in the development of chronic myeloid leukaemia. | 0.015873112 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23846442 | 54790 | TET2 | umls:C0023473 | BeFree | Previous studies have reported FLT3 mutation in as many as 9.2% of myeloproliferative neoplasms (MPNs) and myelodysplastic/myeloproliferative neoplasms (MDS/MPNs), as well as in chronic myelogenous leukemia, that are negative for the JAK2 V617F gene mutation; no FLT3 mutation has been found in JAK2-positive MPNs, suggesting that the mutations are mutually exclusive. | 0.001628651 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22234689 | 6777 | STAT5B | umls:C0023473 | BeFree | In the present study, we used mice with a conditional null mutation in the Stat5a/b gene locus to determine the requirement for STAT5 in MPNs induced by BCR-ABL1 and JAK2(V617F) in retroviral transplantation models of CML and PV. | 0.007328931 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20538800 | 3417 | IDH1 | umls:C0023473 | BeFree | Moreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplasias (n = 96), a single case of acute lymphoblastic leukemia (n = 96), and none in chronic myeloid leukemias (n = 81). | 0.000542884 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23846442 | 171023 | ASXL1 | umls:C0023473 | BeFree | Previous studies have reported FLT3 mutation in as many as 9.2% of myeloproliferative neoplasms (MPNs) and myelodysplastic/myeloproliferative neoplasms (MDS/MPNs), as well as in chronic myelogenous leukemia, that are negative for the JAK2 V617F gene mutation; no FLT3 mutation has been found in JAK2-positive MPNs, suggesting that the mutations are mutually exclusive. | 0.001628651 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21950422 | 3717 | JAK2 | umls:C0023473 | BeFree | LCN-2 mRNA showed a near 50-fold increase in expression, accompanied by down-regulation of SLC22A17, coinciding with increase in BCR-ABL transcripts, loss of JAK2-V617F and change of clinical phenotype from polycythaemia vera to chronic myeloid leukaemia. | 0.015873112 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19641523 | 3717 | JAK2 | umls:C0023473 | BeFree | And finally, Will the benefits conferred by current or future JAK2(V617F) inhibitors equal or even surpass the clinical success that has resulted from the use of tyrosine kinase inhibitors in CML? | 0.015873112 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23846442 | 7531 | YWHAE | umls:C0023473 | BeFree | Previous studies have reported FLT3 mutation in as many as 9.2% of myeloproliferative neoplasms (MPNs) and myelodysplastic/myeloproliferative neoplasms (MDS/MPNs), as well as in chronic myelogenous leukemia, that are negative for the JAK2 V617F gene mutation; no FLT3 mutation has been found in JAK2-positive MPNs, suggesting that the mutations are mutually exclusive. | 0.001357209 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20538800 | 3418 | IDH2 | umls:C0023473 | BeFree | Moreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplasias (n = 96), a single case of acute lymphoblastic leukemia (n = 96), and none in chronic myeloid leukemias (n = 81). | 0.000542884 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17255768 | 613 | BCR | umls:C0023473 | BeFree | The recently described JAK2 V617F mutation, present in a substantial proportion of nonchronic myelogenous leukemia chronic myeloproliferative disorders (non-CML CMPDs), is changing the way we conceptualize and diagnose these diseases. | 0.39556717 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23846442 | 5048 | PAFAH1B1 | umls:C0023473 | BeFree | Previous studies have reported FLT3 mutation in as many as 9.2% of myeloproliferative neoplasms (MPNs) and myelodysplastic/myeloproliferative neoplasms (MDS/MPNs), as well as in chronic myelogenous leukemia, that are negative for the JAK2 V617F gene mutation; no FLT3 mutation has been found in JAK2-positive MPNs, suggesting that the mutations are mutually exclusive. | 0.001357209 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21722956 | 25 | ABL1 | umls:C0023473 | BeFree | Abnormalities of tyrosine kinase proteins are well recognised in myeloid malignancies, mutation in the cytoplasmic tyrosine kinase JAK2 (V617F) is key in the pathogenesis of myeloproliferative neoplasms, and translocations involving ABL key in the development of chronic myeloid leukaemia. | 0.371405336 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23807288 | 3717 | JAK2 | umls:C0023473 | BeFree | However it is not so easy, because iPSCs from hematological malignancies have been established only from myeloproliferative neoplasms including chronic myelogenous leukemia (CML) and JAK2-V617F mutation-positive polycythemia vera (PV). | 0.015873112 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20538800 | 3717 | JAK2 | umls:C0023473 | BeFree | Moreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplasias (n = 96), a single case of acute lymphoblastic leukemia (n = 96), and none in chronic myeloid leukemias (n = 81). | 0.015873112 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22847163 | 613 | BCR | umls:C0023473 | 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). | 0.39556717 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17285276 | 3717 | JAK2 | umls:C0023473 | 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. | 0.015873112 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23613267 | 3717 | JAK2 | umls:C0023473 | BeFree | The present report describes two chronic myelogenous leukemia (CML) patients with the JAK2-V617F mutation who were in complete hematologic and cytogenetic remission and subsequently developed clinical features of essential thrombocythemia under treatment with tyrosine kinase inhibitors. | 0.015873112 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23846442 | 2322 | FLT3 | umls:C0023473 | BeFree | Previous studies have reported FLT3 mutation in as many as 9.2% of myeloproliferative neoplasms (MPNs) and myelodysplastic/myeloproliferative neoplasms (MDS/MPNs), as well as in chronic myelogenous leukemia, that are negative for the JAK2 V617F gene mutation; no FLT3 mutation has been found in JAK2-positive MPNs, suggesting that the mutations are mutually exclusive. | 0.007991366 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21722956 | 4547 | MTTP | umls:C0023473 | BeFree | Abnormalities of tyrosine kinase proteins are well recognised in myeloid malignancies, mutation in the cytoplasmic tyrosine kinase JAK2 (V617F) is key in the pathogenesis of myeloproliferative neoplasms, and translocations involving ABL key in the development of chronic myeloid leukaemia. | 0.055374142 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 24293258 | 3717 | JAK2 | umls:C0023473 | BeFree | The JAK2 V617F mutation is common in patients with Philadelphia-negative chronic myeloproliferative neoplasms, but few cases of the JAK2 V617F mutation have been described in Philadelphia-positive chronic myeloid leukemia (CML) patients. | 0.015873112 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21950422 | 3934 | LCN2 | umls:C0023473 | BeFree | LCN-2 mRNA showed a near 50-fold increase in expression, accompanied by down-regulation of SLC22A17, coinciding with increase in BCR-ABL transcripts, loss of JAK2-V617F and change of clinical phenotype from polycythaemia vera to chronic myeloid leukaemia. | 0.001085767 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs78245253 | 19304323 | 2624 | GATA2 | umls:C0023473 | BeFree | GATA-2 L359 V mutation is exclusively associated with CML progression but not other hematological malignancies and GATA-2 P250A is a novel single nucleotide polymorphism. | 0.003995683 | 2009 | GATA2 | 3 | 128485850 | G | A,C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
Chemical(Total Drugs:17) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0023473 | allopurinol | D000493 | 315-30-0 | leukemia, myelogenous, chronic, bcr-abl positive | MESH:D015464 | therapeutic | 9692318 | ||
| C0023473 | arsenic trioxide | C006632 | 1327-53-3 | leukemia, myelogenous, chronic, bcr-abl positive | MESH:D015464 | therapeutic | 12239215 | ||
| C0023473 | bortezomib | D000069286 | - | leukemia, myelogenous, chronic, bcr-abl positive | MESH:D015464 | therapeutic | 20068223 | ||
| C0023473 | busulfan | D002066 | 55-98-1 | leukemia, myelogenous, chronic, bcr-abl positive | MESH:D015464 | therapeutic | 10373061 | ||
| C0023473 | cyclophosphamide | D003520 | 50-18-0 | leukemia, myelogenous, chronic, bcr-abl positive | MESH:D015464 | therapeutic | 10373061 | ||
| C0023473 | dasatinib | D000069439 | - | leukemia, myelogenous, chronic, bcr-abl positive | MESH:D015464 | therapeutic | 18673174 | ||
| C0023473 | decitabine | C014347 | 2353-33-5 | leukemia, myelogenous, chronic, bcr-abl positive | MESH:D015464 | therapeutic | 14604977 | ||
| C0023473 | hydroxyurea | D006918 | 127-07-1 | leukemia, myelogenous, chronic, bcr-abl positive | MESH:D015464 | therapeutic | 10762306 | ||
| C0023473 | imatinib mesylate | D000068877 | - | leukemia, myelogenous, chronic, bcr-abl positive | MESH:D015464 | therapeutic | 12750713 | ||
| C0023473 | indomethacin | D007213 | 53-86-1 | leukemia, myelogenous, chronic, bcr-abl positive | MESH:D015464 | therapeutic | 10785260 | ||
| C0023473 | ponatinib | C545373 | - | leukemia, myelogenous, chronic, bcr-abl positive | MESH:D015464 | therapeutic | 18673174 | ||
| C0023473 | sorafenib | C471405 | - | leukemia, myelogenous, chronic, bcr-abl positive | MESH:D015464 | therapeutic | 17595328 | ||
| C0023473 | thiotepa | D013852 | 52-24-4 | leukemia, myelogenous, chronic, bcr-abl positive | MESH:D015464 | therapeutic | 10373061 | ||
| C0023473 | tretinoin | D014212 | 302-79-4 | leukemia, myelogenous, chronic, bcr-abl positive | MESH:D015464 | therapeutic | 10609785 | ||
| C0023473 | vincristine | D014750 | - | leukemia, myelogenous, chronic, bcr-abl positive | MESH:D015464 | therapeutic | 16437142 | ||
| C0023473 | vindesine | D014751 | 53643-48-4 | leukemia, myelogenous, chronic, bcr-abl positive | MESH:D015464 | therapeutic | 2020116 | ||
| C0023473 | vorinostat | C111237 | - | leukemia, myelogenous, chronic, bcr-abl positive | MESH:D015464 | therapeutic | 12446442 | ||
FDA approved drug and dosage information(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |