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	chronic myelocytic leukemia

Disease ID	317
Disease	chronic myelocytic leukemia
Definition	chronic leukemia in which myeloid progenitor cells predominate; the hallmark of CML, the Philadelphia chromosome, is a reciprocal translocation between chromosomes 9 and 22 which activates the proto- oncogene c-abl.
Synonym	[m]chronic myeloid leukaemia [m]chronic myeloid leukemia bcr-abl positive chronic myelogenous leukemia cgl cgl - chronic granulocytic leukaemia cgl - chronic granulocytic leukemia chronic granulocytic leukaemia chronic granulocytic leukemia chronic granulocytic leukemias chronic myelocytic leukaemia chronic myelocytic leukemias chronic myelogenous leukaemia chronic myelogenous leukemia chronic myelogenous leukemia (cml) chronic myelogenous leukemia, bcr-abl1 positive chronic myelogenous leukemia, no icd-o subtype chronic myelogenous leukemia, no icd-o subtype (morphologic abnormality) chronic myelogenous leukemia, no international classification of diseases for oncology subtype chronic myelogenous leukemia, no international classification of diseases for oncology subtype (morphologic abnormality) chronic myelogenous leukemias chronic myeloid leukaemia chronic myeloid leukaemia (disorder) chronic myeloid leukaemia nos chronic myeloid leukaemia, disease chronic myeloid leukemia chronic myeloid leukemia nos chronic myeloid leukemia nos (disorder) chronic myeloid leukemia, disease chronic myeloid leukemia, disease (disorder) chronic myeloid leukemias cml cml - chronic myelogenous leukemia cml - chronic myeloid leukaemia cml - chronic myeloid leukemia granulocytic leukemia, chronic granulocytic leukemias, chronic hematopoeitic - chronic myelocytic leukemia (cml) leukemia chronic myelocytic leukemia myelocytic chronic leukemia phila pos leukemia, chronic granulocytic leukemia, chronic myelocytic leukemia, chronic myelogenous leukemia, chronic myeloid leukemia, granulocytic, chronic leukemia, myelocytic, chronic leukemia, myelogenous, chronic leukemia, myelogenous, chronic, bcr-abl positive leukemia, myelogenous, chronic, bcr-abl positive [disease/finding] leukemia, myelogenous, ph1 positive leukemia, myelogenous, ph1-positive leukemia, myeloid, chronic leukemia, myeloid, ph1 positive leukemia, myeloid, ph1-positive leukemia, myeloid, philadelphia positive leukemia, myeloid, philadelphia-positive leukemia, ph1-positive myelogenous leukemia, ph1-positive myeloid leukemia, philadelphia-positive myeloid leukemias, chronic granulocytic leukemias, chronic myelocytic leukemias, chronic myelogenous leukemias, chronic myeloid leukemias, ph1-positive myelogenous leukemias, ph1-positive myeloid leukemias, philadelphia-positive myeloid myelocytic leukemia, chronic myelocytic leukemias, chronic myelogenous leukemia, chronic myelogenous leukemia, ph1 positive myelogenous leukemia, ph1-positive myelogenous leukemias, chronic myelogenous leukemias, ph1-positive myeloid leukemia, chronic myeloid leukemia, ph1 positive myeloid leukemia, ph1-positive myeloid leukemia, philadelphia positive myeloid leukemia, philadelphia-positive myeloid leukemias, chronic myeloid leukemias, ph1-positive myeloid leukemias, philadelphia-positive ph1-positive myelogenous leukemia ph1-positive myelogenous leukemias ph1-positive myeloid leukemia ph1-positive myeloid leukemias philadelphia-positive myeloid leukemia philadelphia-positive myeloid leukemias
Orphanet	ORPHANET:521
OMIM	OMIM:608232
DOID	DOID:8552
UMLS	C0023473
MeSH	D015464
SNOMED-CT	SNOMEDCT_US_2016_09_01:92818009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:93) C0023418 \| leukemia \| 13 C1261473 \| sarcoma \| 4 C0024299 \| lymphoma \| 3 C0026764 \| multiple myeloma \| 3 C0023467 \| acute myeloid leukemia \| 3 C0026986 \| myelodysplastic syndrome \| 3 C0026848 \| myopathy \| 2 C0023449 \| acute lymphoblastic leukemia \| 2 C0009319 \| colitis \| 2 C0032285 \| pneumonitis \| 2 C0026764 \| myeloma \| 2 C0879615 \| stromal tumor \| 2 C0031039 \| pericardial effusion \| 2 C0009492 \| compartment syndrome \| 2 C0040053 \| thrombosis \| 2 C0152276 \| chloroma \| 2 C0023470 \| myeloid leukemia \| 2 C0836924 \| thrombocytosis \| 2 C0011860 \| type 2 diabetes \| 1 C0020757 \| ichthyosis \| 1 C0085669 \| acute leukemia \| 1 C0011847 \| diabetes \| 1 C0023418 \| leukaemia \| 1 C0002874 \| aplastic anemia \| 1 C0154841 \| central retinal vein occlusion \| 1 C0024314 \| lymphoproliferative disorders \| 1 C0031039 \| pericardial effusions \| 1 C1522378 \| large granular lymphocytosis \| 1 C0836924 \| thrombocythaemia \| 1 C0027051 \| myocardial infarction \| 1 C0001418 \| adenocarcinoma \| 1 C0023443 \| hairy cell leukemia \| 1 C0271051 \| macular oedema \| 1 C0027121 \| myositis \| 1 C0041296 \| tuberculosis \| 1 C0155773 \| portal vein thrombosis \| 1 C0024214 \| lymphangiectasia \| 1 C0023470 \| myelocytic leukemia \| 1 C0032461 \| polycythemia \| 1 C0152013 \| lung adenocarcinoma \| 1 C0018418 \| gynaecomastia \| 1 C0042769 \| virus infection \| 1 C0002871 \| anemia \| 1 C0008625 \| chromosomal abnormality \| 1 C0016085 \| filariasis \| 1 C0026896 \| myasthenia gravis \| 1 C0017601 \| glaucoma \| 1 C0154830 \| proliferative diabetic retinopathy \| 1 C0019158 \| hepatitis \| 1 C0020676 \| hypothyroidism \| 1 C0023487 \| acute promyelocytic leukemia \| 1 C0024790 \| paroxysmal nocturnal hemoglobinuria \| 1 C0023448 \| lymphoblastic leukemia \| 1 C0023434 \| chronic lymphocytic leukemia \| 1 C0024440 \| cystoid macular oedema \| 1 C0011849 \| diabetes mellitus \| 1 C0035078 \| renal failure \| 1 C0027051 \| myocardial infarct \| 1 C0267211 \| gastric antral vascular ectasia \| 1 C0015230 \| rash \| 1 C0027121 \| inflammatory myopathy \| 1 C0152276 \| granulocytic sarcoma \| 1 C0008513 \| retinochoroiditis \| 1 C0033117 \| priapism \| 1 C0152095 \| trisomy 13 \| 1 C0238190 \| inclusion body myositis \| 1 C0033860 \| psoriasis \| 1 C0030326 \| panniculitis \| 1 C0155550 \| neural deafness \| 1 C0152276 \| myeloid sarcoma \| 1 C0032463 \| polycythemia vera \| 1 C0030807 \| pemphigus \| 1 C0238198 \| gastrointestinal stromal tumors \| 1 C0022660 \| acute renal failure \| 1 C0155765 \| microangiopathy \| 1 C0011860 \| type 2 diabetes mellitus \| 1 C0155626 \| acute myocardial infarction \| 1 C0027022 \| myeloproliferative disorder \| 1 C0018784 \| sensorineural deafness \| 1 C0079748 \| lymphoblastic lymphoma \| 1 C0238198 \| gastrointestinal stromal tumor \| 1 C0040028 \| essential thrombocythemia \| 1 C0024314 \| lymphoproliferative disorder \| 1 C0009324 \| ulcerative colitis \| 1 C0023487 \| promyelocytic leukemia \| 1 C0678222 \| carcinoma breast \| 1 C0007570 \| celiac disease \| 1 C0024305 \| non-hodgkin lymphoma \| 1 C0019829 \| hodgkin lymphoma \| 1 C0011884 \| diabetic retinopathy \| 1 C0023448 \| lymphocytic leukemia \| 1 C1260325 \| follicular dendritic cell sarcoma \| 1 C0035328 \| retinal vein occlusion \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:22) 861 \| RUNX1 \| ORPHANET;UNIPROT 613 \| BCR \| CTD_human;ORPHANET;UNIPROT 7015 \| TERT \| CTD_human 3440 \| IFNA2 \| CTD_human 332 \| BIRC5 \| CTD_human 26040 \| SETBP1 \| UNIPROT 3161 \| HMMR \| CTD_human 7490 \| WT1 \| CTD_human 1432 \| MAPK14 \| CTD_human 2950 \| GSTP1 \| CTD_human 5657 \| PRTN3 \| CTD_human 3309 \| HSPA5 \| CTD_human 23532 \| PRAME \| CTD_human 25 \| ABL1 \| CTD_human;ORPHANET;UNIPROT 8863 \| PER3 \| CTD_human 8864 \| PER2 \| CTD_human 5187 \| PER1 \| CTD_human 768 \| CA9 \| CTD_human 406 \| ARNTL \| CTD_human 240 \| ALOX5 \| CTD_human 1407 \| CRY1 \| CTD_human 1408 \| CRY2 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:73) 9141 \| PDCD5 \| CIPHER 5243 \| ABCB1 \| CIPHER 9429 \| ABCG2 \| CIPHER 25 \| ABL1 \| CIPHER;CTD_human 317 \| APAF1 \| CIPHER 581 \| BAX \| CIPHER 596 \| BCL2 \| CIPHER 10018 \| BCL2L11 \| CIPHER 599 \| BCL2L2 \| CIPHER 604 \| BCL6 \| CIPHER 613 \| BCR \| CIPHER;CTD_human 332 \| BIRC5 \| CIPHER;CTD_human 834 \| CASP1 \| CIPHER 843 \| CASP10 \| CIPHER 836 \| CASP3 \| CIPHER 840 \| CASP7 \| CIPHER 841 \| CASP8 \| CIPHER 842 \| CASP9 \| CIPHER 1437 \| CSF2 \| CIPHER 1440 \| CSF3 \| CIPHER 1543 \| CYP1A1 \| CIPHER 1565 \| CYP2D6 \| CIPHER 1577 \| CYP3A5 \| CIPHER 355 \| FAS \| CIPHER 356 \| FASLG \| CIPHER 2322 \| FLT3 \| CIPHER 2784 \| GNB3 \| CIPHER 2944 \| GSTM1 \| CIPHER 2950 \| GSTP1 \| CIPHER;CTD_human 2952 \| GSTT1 \| CIPHER 3002 \| GZMB \| CIPHER 3105 \| HLA-A \| CIPHER 3106 \| HLA-B \| CIPHER 3123 \| HLA-DRB1 \| CIPHER 3125 \| HLA-DRB3 \| CIPHER 3126 \| HLA-DRB4 \| CIPHER 3127 \| HLA-DRB5 \| CIPHER 3439 \| IFNA1 \| CIPHER 3458 \| IFNG \| CIPHER 3459 \| IFNGR1 \| CIPHER 3460 \| IFNGR2 \| CIPHER 3552 \| IL1A \| CIPHER 3553 \| IL1B \| CIPHER 3554 \| IL1R1 \| CIPHER 3717 \| JAK2 \| CIPHER 3718 \| JAK3 \| CIPHER 3791 \| KDR \| CIPHER 1728 \| NQO1 \| CIPHER 5004 \| ORM1 \| CIPHER 5005 \| ORM2 \| CIPHER 5133 \| PDCD1 \| CIPHER 5747 \| PTK2 \| CIPHER 6580 \| SLC22A1 \| CIPHER 7133 \| TNFRSF1B \| CIPHER 7157 \| TP53 \| CIPHER 25989 \| ULK3 \| CIPHER 7490 \| WT1 \| CIPHER;CTD_human 7515 \| XRCC1 \| CIPHER 7015 \| TERT \| CTD_human 3440 \| IFNA2 \| CTD_human 8863 \| PER3 \| CTD_human 8864 \| PER2 \| CTD_human 5187 \| PER1 \| CTD_human 768 \| CA9 \| CTD_human 5657 \| PRTN3 \| CTD_human 3161 \| HMMR \| CTD_human 406 \| ARNTL \| CTD_human 1432 \| MAPK14 \| CTD_human 1407 \| CRY1 \| CTD_human 1408 \| CRY2 \| CTD_human 3309 \| HSPA5 \| CTD_human 23532 \| PRAME \| CTD_human 240 \| ALOX5 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:326) 4363 \| ABCC1 \| 2.006 \| DISEASES 10006 \| ABI1 \| 1.099 \| DISEASES 25 \| ABL1 \| 8.35 \| DISEASES 27 \| ABL2 \| 2.887 \| DISEASES 60 \| ACTB \| 1.825 \| DISEASES 100 \| ADA \| 1.838 \| DISEASES 103 \| ADAR \| 1.736 \| DISEASES 203 \| AK1 \| 1.381 \| DISEASES 11214 \| AKAP13 \| 2.368 \| DISEASES 238 \| ALK \| 1.882 \| DISEASES 240 \| ALOX5 \| 2.412 \| DISEASES 115701 \| ALPK2 \| 1.224 \| DISEASES 148741 \| ANKRD35 \| 2.319 \| DISEASES 121601 \| ANO4 \| 1.326 \| DISEASES 196527 \| ANO6 \| 1.097 \| DISEASES 317 \| APAF1 \| 1.766 \| DISEASES 9138 \| ARHGEF1 \| 4.468 \| DISEASES 406 \| ARNTL \| 1.024 \| DISEASES 51676 \| ASB2 \| 1.041 \| DISEASES 171023 \| ASXL1 \| 2.771 \| DISEASES 22809 \| ATF5 \| 1.066 \| DISEASES 9474 \| ATG5 \| 1.992 \| DISEASES 10533 \| ATG7 \| 2.239 \| DISEASES 538 \| ATP7A \| 1.131 \| DISEASES 9212 \| AURKB \| 1.928 \| DISEASES 567 \| B2M \| 2.013 \| DISEASES 9564 \| BCAR1 \| 1.361 \| DISEASES 10018 \| BCL2L11 \| 3.518 \| DISEASES 8678 \| BECN1 \| 2.633 \| DISEASES 340542 \| BEX5 \| 1.975 \| DISEASES 632 \| BGLAP \| 1.174 \| DISEASES 103344929 \| BGLT3 \| 1.969 \| DISEASES 57448 \| BIRC6 \| 1.168 \| DISEASES 648 \| BMI1 \| 2.32 \| DISEASES 796 \| CALCA \| 1.25 \| DISEASES 811 \| CALR \| 2.434 \| DISEASES 837 \| CASP4 \| 1.03 \| DISEASES 840 \| CASP7 \| 1.103 \| DISEASES 841 \| CASP8 \| 2.303 \| DISEASES 842 \| CASP9 \| 2.958 \| DISEASES 23466 \| CBX6 \| 1.215 \| DISEASES 57126 \| CD177 \| 2.403 \| DISEASES 930 \| CD19 \| 3.363 \| DISEASES 914 \| CD2 \| 2.378 \| DISEASES 958 \| CD40 \| 1.984 \| DISEASES 959 \| CD40LG \| 2.028 \| DISEASES 960 \| CD44 \| 2.315 \| DISEASES 921 \| CD5 \| 2.438 \| DISEASES 9308 \| CD83 \| 2.586 \| DISEASES 942 \| CD86 \| 2.644 \| DISEASES 983 \| CDK1 \| 1.516 \| DISEASES 5129 \| CDK18 \| 1.038 \| DISEASES 23552 \| CDK20 \| 1.679 \| DISEASES 1028 \| CDKN1C \| 1.046 \| DISEASES 1029 \| CDKN2A \| 2.74 \| DISEASES 1050 \| CEBPA \| 3.063 \| DISEASES 387119 \| CEP85L \| 1.195 \| DISEASES 10715 \| CERS1 \| 1.335 \| DISEASES 11200 \| CHEK2 \| 1.317 \| DISEASES 57019 \| CIAPIN1 \| 2.046 \| DISEASES 1260 \| CNGA2 \| 1.93 \| DISEASES 22837 \| COBLL1 \| 1.905 \| DISEASES 1378 \| CR1 \| 1.894 \| DISEASES 1399 \| CRKL \| 5.8 \| DISEASES 1408 \| CRY2 \| 1.55 \| DISEASES 1435 \| CSF1 \| 1.755 \| DISEASES 1438 \| CSF2RA \| 1.875 \| DISEASES 1441 \| CSF3R \| 2.726 \| DISEASES 1454 \| CSNK1E \| 1.691 \| DISEASES 1499 \| CTNNB1 \| 3.353 \| DISEASES 6387 \| CXCL12 \| 2.297 \| DISEASES 7852 \| CXCR4 \| 2.395 \| DISEASES 1576 \| CYP3A4 \| 2.92 \| DISEASES 9802 \| DAZAP2 \| 1.195 \| DISEASES 1638 \| DCT \| 1.166 \| DISEASES 780 \| DDR1 \| 1.032 \| DISEASES 55510 \| DDX43 \| 1.945 \| DISEASES 51202 \| DDX47 \| 2.105 \| DISEASES 7913 \| DEK \| 2.057 \| DISEASES 56616 \| DIABLO \| 1.434 \| DISEASES 3301 \| DNAJA1 \| 1.876 \| DISEASES 27000 \| DNAJC2 \| 2.049 \| DISEASES 1786 \| DNMT1 \| 1.506 \| DISEASES 1791 \| DNTT \| 2.593 \| DISEASES 23348 \| DOCK9 \| 1.084 \| DISEASES 79930 \| DOK3 \| 1.125 \| DISEASES 8813 \| DPM1 \| 4.565 \| DISEASES 8661 \| EIF3A \| 2.9 \| DISEASES 1977 \| EIF4E \| 1.953 \| DISEASES 1978 \| EIF4EBP1 \| 1.999 \| DISEASES 56478 \| EIF4ENIF1 \| 1.758 \| DISEASES 55250 \| ELP2 \| 1.061 \| DISEASES 2009 \| EML1 \| 1.472 \| DISEASES 27436 \| EML4 \| 1.529 \| DISEASES 2050 \| EPHB4 \| 1.687 \| DISEASES 2120 \| ETV6 \| 3.622 \| DISEASES 257415 \| FAM133B \| 1.633 \| DISEASES 355 \| FAS \| 1.706 \| DISEASES 356 \| FASLG \| 2.081 \| DISEASES 2214 \| FCGR3A \| 2.191 \| DISEASES 2242 \| FES \| 2.023 \| DISEASES 2260 \| FGFR1 \| 2.898 \| DISEASES 2268 \| FGR \| 1.107 \| DISEASES 81608 \| FIP1L1 \| 3.762 \| DISEASES 27023 \| FOXB1 \| 1.196 \| DISEASES 2309 \| FOXO3 \| 2.388 \| DISEASES 10023 \| FRAT1 \| 1.454 \| DISEASES 23401 \| FRAT2 \| 1.834 \| DISEASES 2526 \| FUT4 \| 2.764 \| DISEASES 2534 \| FYN \| 2.42 \| DISEASES 9846 \| GAB2 \| 3.488 \| DISEASES 2551 \| GABPA \| 1.377 \| DISEASES 2623 \| GATA1 \| 2.462 \| DISEASES 2624 \| GATA2 \| 2.87 \| DISEASES 2650 \| GCNT1 \| 1.153 \| DISEASES 9245 \| GCNT3 \| 1.752 \| DISEASES 8833 \| GMPS \| 1.411 \| DISEASES 2803 \| GOLGA4 \| 4.275 \| DISEASES 2811 \| GP1BA \| 1.934 \| DISEASES 9402 \| GRAP2 \| 1.098 \| DISEASES 2885 \| GRB2 \| 4.13 \| DISEASES 2993 \| GYPA \| 4.219 \| DISEASES 3014 \| H2AFX \| 1.926 \| DISEASES 9563 \| H6PD \| 1.253 \| DISEASES 3043 \| HBB \| 1.057 \| DISEASES 3055 \| HCK \| 2.764 \| DISEASES 10013 \| HDAC6 \| 1.191 \| DISEASES 8359 \| HIST1H4A \| 1.496 \| DISEASES 8366 \| HIST1H4B \| 1.496 \| DISEASES 8364 \| HIST1H4C \| 1.496 \| DISEASES 8360 \| HIST1H4D \| 1.495 \| DISEASES 8367 \| HIST1H4E \| 1.496 \| DISEASES 8361 \| HIST1H4F \| 1.496 \| DISEASES 8294 \| HIST1H4I \| 1.496 \| DISEASES 8363 \| HIST1H4J \| 1.496 \| DISEASES 8362 \| HIST1H4K \| 1.496 \| DISEASES 8368 \| HIST1H4L \| 1.496 \| DISEASES 8370 \| HIST2H4A \| 1.496 \| DISEASES 554313 \| HIST2H4B \| 1.496 \| DISEASES 121504 \| HIST4H4 \| 1.496 \| DISEASES 3105 \| HLA-A \| 3.667 \| DISEASES 3106 \| HLA-B \| 1.492 \| DISEASES 3107 \| HLA-C \| 1.72 \| DISEASES 3115 \| HLA-DPB1 \| 1.508 \| DISEASES 3161 \| HMMR \| 1.826 \| DISEASES 3178 \| HNRNPA1 \| 1.522 \| DISEASES 3190 \| HNRNPK \| 2.048 \| DISEASES 3201 \| HOXA4 \| 1.35 \| DISEASES 3205 \| HOXA9 \| 3.476 \| DISEASES 3214 \| HOXB4 \| 1.878 \| DISEASES 3239 \| HOXD13 \| 1.009 \| DISEASES 3320 \| HSP90AA1 \| 3.179 \| DISEASES 3418 \| IDH2 \| 1.267 \| DISEASES 3433 \| IFIT2 \| 1.174 \| DISEASES 3451 \| IFNA17 \| 3.519 \| DISEASES 3440 \| IFNA2 \| 4.294 \| DISEASES 3456 \| IFNB1 \| 1.39 \| DISEASES 100423062 \| IGLL5 \| 1.942 \| DISEASES 10320 \| IKZF1 \| 3.04 \| DISEASES 22806 \| IKZF3 \| 1.269 \| DISEASES 3559 \| IL2RA \| 1.25 \| DISEASES 3563 \| IL3RA \| 2.173 \| DISEASES 3614 \| IMPDH1 \| 2.92 \| DISEASES 3615 \| IMPDH2 \| 2.721 \| DISEASES 3633 \| INPP5B \| 2.969 \| DISEASES 3635 \| INPP5D \| 1.279 \| DISEASES 3662 \| IRF4 \| 1.102 \| DISEASES 10379 \| IRF9 \| 1.445 \| DISEASES 3676 \| ITGA4 \| 1.159 \| DISEASES 3684 \| ITGAM \| 2.861 \| DISEASES 3702 \| ITK \| 1.457 \| DISEASES 3716 \| JAK1 \| 2.43 \| DISEASES 3717 \| JAK2 \| 5.16 \| DISEASES 3725 \| JUN \| 2.426 \| DISEASES 9920 \| KBTBD11 \| 5.33 \| DISEASES 3767 \| KCNJ11 \| 2.124 \| DISEASES 5927 \| KDM5A \| 1.017 \| DISEASES 3802 \| KIR2DL1 \| 1.499 \| DISEASES 3803 \| KIR2DL2 \| 1.737 \| DISEASES 3804 \| KIR2DL3 \| 1.096 \| DISEASES 3811 \| KIR3DL1 \| 1.513 \| DISEASES 23633 \| KPNA6 \| 1.117 \| DISEASES 3916 \| LAMP1 \| 1.004 \| DISEASES 10660 \| LBX1 \| 1.4 \| DISEASES 3932 \| LCK \| 2.578 \| DISEASES 3963 \| LGALS7 \| 2.263 \| DISEASES 9355 \| LHX2 \| 1.319 \| DISEASES 987 \| LRBA \| 2.414 \| DISEASES 767558 \| LUZP6 \| 1.763 \| DISEASES 4067 \| LYN \| 4.595 \| DISEASES 201229 \| LYRM9 \| 1.922 \| DISEASES 51438 \| MAGEC2 \| 1.579 \| DISEASES 5609 \| MAP2K7 \| 2.817 \| DISEASES 225689 \| MAPK15 \| 1.063 \| DISEASES 5599 \| MAPK8 \| 2.764 \| DISEASES 5601 \| MAPK9 \| 1.714 \| DISEASES 9261 \| MAPKAPK2 \| 1.331 \| DISEASES 23139 \| MAST2 \| 1.056 \| DISEASES 4145 \| MATK \| 2.582 \| DISEASES 4168 \| MCF2 \| 2.309 \| DISEASES 4170 \| MCL1 \| 3.799 \| DISEASES 4193 \| MDM2 \| 1.895 \| DISEASES 9862 \| MED24 \| 1.481 \| DISEASES 56917 \| MEIS3 \| 1.253 \| DISEASES 100507436 \| MICA \| 1.193 \| DISEASES 100073347 \| MIMT1 \| 1.127 \| DISEASES 407975 \| MIR17HG \| 1.132 \| DISEASES 83881 \| MIXL1 \| 1.436 \| DISEASES 4300 \| MLLT3 \| 1.383 \| DISEASES 4311 \| MME \| 3.024 \| DISEASES 4318 \| MMP9 \| 1.384 \| DISEASES 4332 \| MNDA \| 1.818 \| DISEASES 729967 \| MORN2 \| 1.401 \| DISEASES 4352 \| MPL \| 2.773 \| DISEASES 4524 \| MTHFR \| 2.022 \| DISEASES 2475 \| MTOR \| 2.543 \| DISEASES 91663 \| MYADM \| 1.357 \| DISEASES 4602 \| MYB \| 3.66 \| DISEASES 4609 \| MYC \| 4.227 \| DISEASES 23077 \| MYCBP2 \| 1.224 \| DISEASES 80177 \| MYCT1 \| 1.041 \| DISEASES 4629 \| MYH11 \| 2.521 \| DISEASES 65220 \| NADK \| 1.602 \| DISEASES 339983 \| NAT8L \| 2.554 \| DISEASES 4739 \| NEDD9 \| 1.362 \| DISEASES 4763 \| NF1 \| 2.115 \| DISEASES 654364 \| NME1-NME2 \| 1.965 \| DISEASES 4831 \| NME2 \| 1.468 \| DISEASES 4893 \| NRAS \| 3.153 \| DISEASES 318 \| NUDT2 \| 1.494 \| DISEASES 8650 \| NUMB \| 2.086 \| DISEASES 8021 \| NUP214 \| 1.492 \| DISEASES 146852 \| ODF4 \| 1.324 \| DISEASES 23762 \| OSBP2 \| 1.09 \| DISEASES 142 \| PARP1 \| 3.27 \| DISEASES 5079 \| PAX5 \| 1.559 \| DISEASES 5087 \| PBX1 \| 1.148 \| DISEASES 5094 \| PCBP2 \| 2.772 \| DISEASES 9141 \| PDCD5 \| 1.963 \| DISEASES 5155 \| PDGFB \| 2.027 \| DISEASES 8863 \| PER3 \| 1.512 \| DISEASES 5202 \| PFDN2 \| 1.165 \| DISEASES 5236 \| PGM1 \| 1.835 \| DISEASES 5367 \| PMCH \| 1.323 \| DISEASES 84106 \| PRAM1 \| 2.483 \| DISEASES 23532 \| PRAME \| 3.344 \| DISEASES 11168 \| PSIP1 \| 1.166 \| DISEASES 5728 \| PTEN \| 2.175 \| DISEASES 5747 \| PTK2 \| 1.655 \| DISEASES 2185 \| PTK2B \| 2.031 \| DISEASES 5781 \| PTPN11 \| 3.013 \| DISEASES 5783 \| PTPN13 \| 1.926 \| DISEASES 5777 \| PTPN6 \| 1.694 \| DISEASES 5788 \| PTPRC \| 2.711 \| DISEASES 5793 \| PTPRG \| 1.141 \| DISEASES 2889 \| RAPGEF1 \| 2.796 \| DISEASES 158158 \| RASEF \| 1.493 \| DISEASES 5931 \| RBBP7 \| 1.188 \| DISEASES 64783 \| RBM15 \| 1.479 \| DISEASES 92241 \| RCSD1 \| 1.09 \| DISEASES 5970 \| RELA \| 1.783 \| DISEASES 57529 \| RGAG1 \| 1.408 \| DISEASES 56963 \| RGMA \| 1.178 \| DISEASES 729857 \| RGPD2 \| 1.443 \| DISEASES 84236 \| RHBDD1 \| 1.213 \| DISEASES 387 \| RHOA \| 1.504 \| DISEASES 6041 \| RNASEL \| 1.45 \| DISEASES 154214 \| RNF217 \| 2.289 \| DISEASES 6194 \| RPS6 \| 1.06 \| DISEASES 862 \| RUNX1T1 \| 1.216 \| DISEASES 860 \| RUNX2 \| 1.269 \| DISEASES 5345 \| SERPINF2 \| 1.148 \| DISEASES 2810 \| SFN \| 1.288 \| DISEASES 259230 \| SGMS1 \| 1.678 \| DISEASES 10019 \| SH2B3 \| 1.445 \| DISEASES 6464 \| SHC1 \| 2.678 \| DISEASES 6580 \| SLC22A1 \| 4.723 \| DISEASES 284129 \| SLC26A11 \| 1.138 \| DISEASES 83650 \| SLC35G5 \| 2.239 \| DISEASES 6603 \| SMARCD2 \| 1.302 \| DISEASES 55627 \| SMPD4 \| 1.629 \| DISEASES 6622 \| SNCA \| 2.978 \| DISEASES 8651 \| SOCS1 \| 1.671 \| DISEASES 9021 \| SOCS3 \| 1.136 \| DISEASES 6693 \| SPN \| 2.009 \| DISEASES 200734 \| SPRED2 \| 1.65 \| DISEASES 8878 \| SQSTM1 \| 1.252 \| DISEASES 6714 \| SRC \| 5.089 \| DISEASES 9295 \| SRSF11 \| 1.479 \| DISEASES 727837 \| SSX2B \| 1.053 \| DISEASES 6483 \| ST3GAL2 \| 2.255 \| DISEASES 338596 \| ST8SIA6 \| 1.819 \| DISEASES 6772 \| STAT1 \| 2.452 \| DISEASES 6776 \| STAT5A \| 5.143 \| DISEASES 54823 \| SWT1 \| 1.337 \| DISEASES 11022 \| TDRKH \| 1.851 \| DISEASES 7006 \| TEC \| 1.793 \| DISEASES 64518 \| TEKT3 \| 1.594 \| DISEASES 54790 \| TET2 \| 4.166 \| DISEASES 200424 \| TET3 \| 1.082 \| DISEASES 7018 \| TF \| 1.2 \| DISEASES 7037 \| TFRC \| 2.227 \| DISEASES 8563 \| THOC5 \| 2.093 \| DISEASES 9874 \| TLK1 \| 1.355 \| DISEASES 3195 \| TLX1 \| 1.825 \| DISEASES 7124 \| TNF \| 2.643 \| DISEASES 8995 \| TNFSF18 \| 1.101 \| DISEASES 10043 \| TOM1 \| 2.042 \| DISEASES 7150 \| TOP1 \| 1.686 \| DISEASES 51377 \| UCHL5 \| 2.118 \| DISEASES 7357 \| UGCG \| 1.067 \| DISEASES 127933 \| UHMK1 \| 1.913 \| DISEASES 7874 \| USP7 \| 1.972 \| DISEASES 7405 \| UVRAG \| 1.083 \| DISEASES 7409 \| VAV1 \| 2.152 \| DISEASES 7422 \| VEGFA \| 2.208 \| DISEASES 51160 \| VPS28 \| 1.576 \| DISEASES 23038 \| WDTC1 \| 1.308 \| DISEASES 7490 \| WT1 \| 3.544 \| DISEASES 331 \| XIAP \| 2.841 \| DISEASES 2547 \| XRCC6 \| 1.116 \| DISEASES 7704 \| ZBTB16 \| 1.998 \| DISEASES 57621 \| ZBTB2 \| 1.382 \| DISEASES 7750 \| ZMYM2 \| 3.083 \| DISEASES 9202 \| ZMYM4 \| 1.279 \| DISEASES 7767 \| ZNF224 \| 1.651 \| DISEASES
Locus	(Waiting for update.)

Disease ID	317
Disease	chronic myelocytic leukemia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:73) HP:0001909 \| Leukemia \| 15 HP:0002664 \| Neoplasia \| 6 HP:0100242 \| Sarcoma \| 5 HP:0002202 \| Pleural effusion \| 5 HP:0002863 \| Myelodysplastic syndrome \| 3 HP:0005550 \| Chronic lymphatic leukemia \| 3 HP:0006775 \| Multiple myeloma \| 3 HP:0004808 \| Acute myelogenous leukemia \| 3 HP:0002665 \| Lymphoma \| 3 HP:0001698 \| Pericardial effusions \| 2 HP:0000969 \| Dropsy \| 2 HP:0001901 \| Abnormally shaped erythrocytes \| 2 HP:0002573 \| Bloody diarrhea \| 2 HP:0006515 \| Interstitial pneumonitis \| 2 HP:0002583 \| Colitis \| 2 HP:0001894 \| Thrombocytosis \| 2 HP:0000407 \| sensorineural hearing loss \| 2 HP:0006721 \| Acute lymphocytic leukemia \| 2 HP:0003198 \| Myopathic changes \| 2 HP:0030731 \| Carcinoma \| 2 HP:0012324 \| Myeloid leukemia \| 2 HP:0004836 \| Acute promyelocytic leukemia \| 1 HP:0001510 \| Growth deficiency \| 1 HP:0012398 \| Peripheral edema \| 1 HP:0100827 \| Lymphocytosis \| 1 HP:0001903 \| Anemia \| 1 HP:0012636 \| Retinal vein occlusion \| 1 HP:0012189 \| Hodgkin disease \| 1 HP:0002721 \| Immunodeficiency \| 1 HP:0001658 \| Myocardial infarction \| 1 HP:0002488 \| Acute leukemias \| 1 HP:0100614 \| Muscle inflammation \| 1 HP:0001919 \| Acute renal failure \| 1 HP:0004387 \| Enterocolitis \| 1 HP:0012490 \| Inflammation of fat tissue \| 1 HP:0003765 \| Psoriasis \| 1 HP:0002584 \| Intestinal hemorrhage \| 1 HP:0000572 \| Visual loss \| 1 HP:0009071 \| Inflammatory myopathy \| 1 HP:0030242 \| Blood clot in portal vein \| 1 HP:0003003 \| Colon cancer \| 1 HP:0100279 \| Ulcerative colitis \| 1 HP:0005523 \| Lymphoproliferative disorder \| 1 HP:0200023 \| Priapism \| 1 HP:0002608 \| Celiac disease \| 1 HP:0001920 \| Renal artery stenosis \| 1 HP:0012539 \| Non-Hodgkin lymphoma \| 1 HP:0030804 \| Trachyonychia \| 1 HP:0012223 \| Ruptured spleen \| 1 HP:0011695 \| Cerebellar hemorrhage \| 1 HP:0030746 \| Intraventricular hemorrhage \| 1 HP:0000819 \| Diabetes mellitus \| 1 HP:0000365 \| Hearing impairment \| 1 HP:0012531 \| Pain \| 1 HP:0000501 \| Glaucoma \| 1 HP:0000718 \| Aggressive behaviour \| 1 HP:0000083 \| Renal insufficiency \| 1 HP:0030078 \| Lung adenocarcinoma \| 1 HP:0008064 \| Ichthyosis \| 1 HP:0001974 \| Leukocytosis \| 1 HP:0011505 \| Cystoid macular edema \| 1 HP:0007503 \| Generalized ichthyosis \| 1 HP:0004818 \| Paroxysmal nocturnal hemoglobinuria \| 1 HP:0005547 \| Myeloproliferative disorder \| 1 HP:0000821 \| Underactive thyroid \| 1 HP:0001744 \| Splenomegaly \| 1 HP:0100723 \| Gastrointestinal stroma tumor \| 1 HP:0000771 \| Gynaecomastia \| 1 HP:0001880 \| Eosinophilia \| 1 HP:0012115 \| Liver inflammation \| 1 HP:0003473 \| Fatigable weakness \| 1 HP:0001915 \| Aplastic anemia \| 1 HP:0009027 \| Foot drop \| 1

Disease ID	317
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	UMLS \| Name \| Sentences' Count(Total Symptoms:19) C0005699 \| blast crisis \| 28 C0032227 \| pleural effusion \| 5 C1516669 \| clonal evolution \| 3 C0026764 \| multiple myeloma \| 2 C0836924 \| thrombocytosis \| 2 C0026896 \| myasthenia gravis \| 1 C0152276 \| granulocytic sarcoma \| 1 C0085077 \| sweet's syndrome \| 1 C0033117 \| priapism \| 1 C0085077 \| sweet syndrome \| 1 C2717961 \| thrombotic microangiopathy \| 1 C0019080 \| hemorrhage \| 1 C0162835 \| depigmentation \| 1 C0024440 \| cystoid macular oedema \| 1 C0030326 \| panniculitis \| 1 C0155765 \| microangiopathy \| 1 C0008513 \| retinochoroiditis \| 1 C0152276 \| chloroma \| 1 C0002871 \| anemia \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total 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:2)
CHR	POS	SNPID	REF	ALT	ORI_SNPID	PMID	P_VALUE	P_VALUE_TEXT	OR/BETA	CI95_TEXT	GWAS_INITIAL_SAMPLE_SIZE	SUB_POPULATION	SUPER_POPULATION	GWAS_TRAIT	HPO_ID	HPO_TERM	DO_ID	DO_TERM	MESH_ID	MESH_TERM	EFO_ID	EFO_TERM	DOLITE_TERM	RISK_ALLELE	PUBLICATION_TYPE	AA	GENE_SYMBOL	TYPE	REFGENE
6	151907748	rs4869742	C	T	rs4869742	21540461	2.00E-06	NA	1.67	[1.35-2.04]	201 Korean ancestry cases; 497 Korean ancestry controls	Korean(698)	ALL(698)	ASN(698)	ALL(698)	Chronic myeloid leukemia	HPOID:0005550	Chronic lymphatic leukemia	DOID:8552	chronic myeloid leukemia	D015464	Leukemia, Myelogenous, Chronic, BCR-ABL Positive	EFOID:0000339	chronic myelogenous leukemia	Leukemia	rs4869742-T	Research Support, Non-U.S. Gov't	C	C6orf97
17	25541278	rs4795519	A	C	rs4795519	21540461	1.00E-12	NA	1.85	[1.56-2.17]	201 Korean ancestry cases; 497 Korean ancestry controls	Korean(698)	ALL(698)	ASN(698)	ALL(698)	Chronic myeloid leukemia	HPOID:0005550	Chronic lymphatic leukemia	DOID:8552	chronic myeloid leukemia	D015464	Leukemia, Myelogenous, Chronic, BCR-ABL Positive	EFOID:0000339	chronic myelogenous leukemia	Leukemia	rs4795519-C	Research Support, Non-U.S. Gov't	C	NA

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	317
Disease	chronic myelocytic leukemia
Case	(Waiting for update.)