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encyclopedia of Rare Disease Annotation for Precision Medicine

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	leukemia, acute myeloid

Disease ID	808
Disease	leukemia, acute myeloid
Definition	acute leukemia arising from myeloid tissue in which the granular, polymorphonuclear leukocytes and their precursors predominate.
Synonym	[m]acute myeloid leukaemia [m]acute myeloid leukaemia (disorder) [m]acute myeloid leukemia acute granulocytic leukaemia acute granulocytic leukemia acute leukemias non lymphoblastic acute myeloblastic leukaemia acute myeloblastic leukemia acute myeloblastic leukemia (disorder) acute myeloblastic leukemias acute myelocytic leukaemia acute myelocytic leukemia acute myelocytic leukemias acute myelogenous leukaemia acute myelogenous leukemia acute myelogenous leukemia (aml) acute myelogenous leukemias acute myeloid leukaemia acute myeloid leukaemia - category acute myeloid leukaemia, disease acute myeloid leukaemia, no icd-o subtype acute myeloid leukemia acute myeloid leukemia - category acute myeloid leukemia - category (morphologic abnormality) acute myeloid leukemia nos acute myeloid leukemia not otherwise categorized acute myeloid leukemia not otherwise specified acute myeloid leukemia, disease acute myeloid leukemia, disease (disorder) acute myeloid leukemia, no icd-o subtype acute myeloid leukemia, no icd-o subtype (morphologic abnormality) acute myeloid leukemia, no international classification of diseases for oncology subtype acute myeloid leukemia, no international classification of diseases for oncology subtype (morphologic abnormality) acute myeloid leukemia, nos acute myeloid leukemias acute non-lymphoblastic leukemia acute non-lymphocytic leukaemia acute non-lymphocytic leukemia acute nonlymphoblastic leukemia acute nonlymphoblastic leukemias acute nonlymphocytic leukemia acute nonlymphocytic leukemia (anll) acute nonlymphocytic leukemias aml aml - acute myeloblastic leukaemia aml - acute myeloblastic leukemia aml - acute myeloid leukaemia aml - acute myeloid leukemia aml, nos anll hematopoeitic - acute myleogenous leukemia (aml) leukemia acute myeloblastic leukemia myeloblastic acute leukemia, acute myeloblastic leukemia, acute myelocytic leukemia, acute myelogenous leukemia, acute nonlymphoblastic leukemia, acute nonlymphocytic leukemia, granulocytic, acute leukemia, myeloblastic, acute leukemia, myelocytic, acute leukemia, myelogenous, acute leukemia, myeloid, acute leukemia, myeloid, acute [disease/finding] leukemia, nonlymphoblastic, acute leukemia, nonlymphocytic, acute leukemias, acute myeloblastic leukemias, acute myelocytic leukemias, acute myelogenous leukemias, acute myeloid leukemias, acute nonlymphoblastic leukemias, acute nonlymphocytic myeloblastic leukemia, acute myeloblastic leukemias, acute myelocytic leukemia, acute myelocytic leukemias, acute myelogenous leukemia, acute myelogenous leukemias, acute myeloid leukemia, acute myeloid leukemias, acute non-lymphoblastic leukemia acute nonlymphoblastic leukemia, acute nonlymphoblastic leukemias, acute nonlymphocytic leukemia, acute nonlymphocytic leukemias, acute
Orphanet	ORPHANET:519
OMIM	OMIM:601626
DOID	DOID:9119
UMLS	C0023467
MeSH	D015470
SNOMED-CT	SNOMEDCT_US_2016_09_01:91861009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:145) C0026985 \| myelodysplasia \| 27 C0023418 \| leukemia \| 24 C0026986 \| myelodysplastic syndrome \| 17 C1261473 \| sarcoma \| 13 C0152276 \| myeloid sarcoma \| 12 C0024899 \| mastocytosis \| 10 C0004030 \| aspergillosis \| 8 C0221013 \| systemic mastocytosis \| 8 C0027947 \| neutropenia \| 7 C0026946 \| fungal infection \| 6 C0026764 \| multiple myeloma \| 5 C0026946 \| fungal disease \| 5 C0026764 \| myeloma \| 5 C0002871 \| anemia \| 4 C0598894 \| monocytic leukemia \| 4 C0026986 \| myelodysplastic syndromes \| 4 C0032285 \| pneumonia \| 4 C0023448 \| lymphoblastic leukemia \| 4 C0023473 \| chronic myeloid leukemia \| 4 C0012739 \| disseminated intravascular coagulation \| 4 C0030312 \| bone marrow failure \| 3 C0001815 \| myelofibrosis \| 3 C0152276 \| chloroma \| 3 C0085669 \| acute leukemia \| 3 C0152276 \| granulocytic sarcoma \| 3 C0041296 \| tuberculosis \| 3 C1261473 \| sarcomas \| 2 C0026946 \| fungal infections \| 2 C0041327 \| pulmonary tuberculosis \| 2 C0023449 \| acute lymphoblastic leukemia \| 2 C0037199 \| sinusitis \| 2 C0019158 \| hepatitis \| 2 C0024291 \| hemophagocytic syndrome \| 2 C0376545 \| hematologic malignancies \| 2 C0023470 \| myeloid leukemia \| 2 C0011848 \| diabetes insipidus \| 2 C0023487 \| acute promyelocytic leukemia \| 2 C0023448 \| lymphocytic leukemia \| 2 C0040053 \| thrombosis \| 2 C0019621 \| langerhans cell histiocytosis \| 2 C0019618 \| histiocytosis \| 2 C0015625 \| fanconi anemia \| 2 C0024299 \| lymphoma \| 2 C0021053 \| immune disease \| 2 C0040034 \| thrombocytopenia \| 2 C0376545 \| hematological malignancy \| 2 C0024291 \| hemophagocytic lymphohistiocytosis \| 2 C0011847 \| diabetes \| 2 C0010346 \| crohn's disease \| 2 C0023434 \| chronic lymphocytic leukemia \| 2 C0027708 \| wilms' tumor \| 1 C0376480 \| gingival enlargement \| 1 C0027708 \| wilms tumor 1 \| 1 C0023470 \| myelocytic leukemia \| 1 C0008533 \| factor ix deficiency \| 1 C0019069 \| hemophilia \| 1 C0012569 \| diplopia \| 1 C0878544 \| cardiomyopathy \| 1 C0035222 \| acute respiratory distress syndrome \| 1 C0040425 \| tonsillitis \| 1 C0024899 \| mast cell disease \| 1 C0025289 \| meningitis \| 1 C0015503 \| factor vii deficiency \| 1 C0023860 \| listeria monocytogenes infection \| 1 C0024314 \| lymphoproliferative disorder \| 1 C0004135 \| ataxia telangiectasia \| 1 C0042769 \| viral infections \| 1 C0080032 \| malignant pleural effusion \| 1 C0023524 \| progressive multifocal leukoencephalopathy \| 1 C0036341 \| schizophrenia \| 1 C0238198 \| gastrointestinal stromal tumor \| 1 C0004134 \| ataxia \| 1 C0005129 \| bernard soulier syndrome \| 1 C0029454 \| osteopetrosis \| 1 C0032633 \| dyshidrotic eczema \| 1 C0006849 \| thrush \| 1 C0025202 \| melanoma \| 1 C0013595 \| eczema \| 1 C0042164 \| uveitis \| 1 C0040188 \| tic disorders \| 1 C0041316 \| tuberculous lymphadenitis \| 1 C0023487 \| promyelocytic leukemia \| 1 C0023418 \| leukaemia \| 1 C0001815 \| primary myelofibrosis \| 1 C0003615 \| appendicitis \| 1 C0155626 \| acute myocardial infarction \| 1 C0836924 \| thrombocythemia \| 1 C0026946 \| mycoses \| 1 C0015464 \| facial palsy \| 1 C1704437 \| respiratory distress syndrome \| 1 C0042769 \| virus infection \| 1 C0553580 \| ewing's sarcoma \| 1 C1621958 \| glioblastoma multiforme \| 1 C0036202 \| sarcoidosis \| 1 C0043541 \| zygomycosis \| 1 C0012739 \| disseminated intravascular coagulation (dic) \| 1 C0014118 \| endocarditis \| 1 C0019196 \| hepatitis c \| 1 C0085160 \| hidradenitis \| 1 C0836924 \| thrombocytosis \| 1 C0042769 \| viral infection \| 1 C0021933 \| intussusception \| 1 C0038013 \| ankylosing spondylitis \| 1 C0002874 \| aplastic anemia \| 1 C0007682 \| central nervous system disease \| 1 C0017636 \| glioblastoma \| 1 C0017160 \| gastroenteritis \| 1 C0019562 \| hippel-lindau disease \| 1 C0019829 \| hodgkin lymphoma \| 1 C0030312 \| pancytopenia \| 1 C0879615 \| stromal tumor \| 1 C0027051 \| myocardial infarct \| 1 C0023418 \| leukemias \| 1 C0031485 \| phenylketonuria \| 1 C0015645 \| fasciitis \| 1 C0021843 \| intestinal obstruction \| 1 C0005818 \| thrombocytopathy \| 1 C0270612 \| leukoencephalopathy \| 1 C1527311 \| brain edema \| 1 C0085113 \| neurofibromatosis \| 1 C0027765 \| nervous system disease \| 1 C0011633 \| dermatomyositis \| 1 C0019562 \| von hippel-lindau disease \| 1 C0019562 \| lindau disease \| 1 C0019163 \| hepatitis b \| 1 C0041408 \| turner syndrome \| 1 C0014038 \| encephalitis \| 1 C0242343 \| panhypopituitarism \| 1 C0027051 \| myocardial infarction \| 1 C0020437 \| hypercalcemia \| 1 C0016436 \| folliculitis \| 1 C0038379 \| strabismus \| 1 C0008625 \| chromosomal abnormality \| 1 C0037274 \| dermatosis \| 1 C0022735 \| klinefelter's syndrome \| 1 C0343386 \| clostridium difficile infection \| 1 C0006142 \| breast cancer \| 1 C0002878 \| hemolytic anemia \| 1 C0002766 \| analgesia \| 1 C0376545 \| hematological malignancies \| 1 C0026718 \| mucormycosis \| 1 C0079748 \| lymphoblastic lymphoma \| 1 C0031069 \| familial mediterranean fever \| 1 C0024314 \| lymphoproliferative disorders \| 1 C0085669 \| acute leukemias \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:119) 2624 \| GATA2 \| CTD_human;ORPHANET 861 \| RUNX1 \| CTD_human 8743 \| TNFSF10 \| CTD_human 1440 \| CSF3 \| CTD_human 7249 \| TSC2 \| CTD_human 3845 \| KRAS \| CLINVAR 6774 \| STAT3 \| CTD_human 3315 \| HSPB1 \| CTD_human 7015 \| TERT \| CLINVAR 2322 \| FLT3 \| CLINVAR;CTD_human;UNIPROT 3717 \| JAK2 \| CTD_human;UNIPROT 1436 \| CSF1R \| CTD_human 2969 \| GTF2I \| CTD_human 58508 \| KMT2C \| CTD_human 4609 \| MYC \| CTD_human 26040 \| SETBP1 \| UNIPROT 81552 \| VOPP1 \| CTD_human 862 \| RUNX1T1 \| CTD_human 1495 \| CTNNA1 \| CTD_human 3815 \| KIT \| CLINVAR;CTD_human 4233 \| MET \| CTD_human 2026 \| ENO2 \| CTD_human 4330 \| MN1 \| CTD_human 596 \| BCL2 \| CTD_human 4763 \| NF1 \| CTD_human 10125 \| RASGRP1 \| CTD_human 3082 \| HGF \| CTD_human 6777 \| STAT5B \| GHR 7490 \| WT1 \| CTD_human 3398 \| ID2 \| CTD_human 64324 \| NSD1 \| CTD_human 6840 \| SVIL \| CTD_human 4629 \| MYH11 \| CTD_human;UNIPROT 1437 \| CSF2 \| CTD_human 865 \| CBFB \| CTD_human;UNIPROT 3205 \| HOXA9 \| CTD_human 81848 \| SPRY4 \| CTD_human 1471 \| CST3 \| CTD_human 6455 \| SH3GL1 \| CTD_human 1612 \| DAPK1 \| CTD_human 4297 \| KMT2A \| CTD_human 6446 \| SGK1 \| CTD_human 5371 \| PML \| GHR 2078 \| ERG \| CTD_human 864 \| RUNX3 \| CTD_human 7200 \| TRH \| CTD_human 10634 \| GAS2L1 \| CTD_human 309 \| ANXA6 \| CTD_human 307 \| ANXA4 \| CTD_human 308 \| ANXA5 \| CTD_human 302 \| ANXA2 \| CTD_human 355 \| FAS \| CTD_human 60468 \| BACH2 \| CTD_human 7704 \| ZBTB16 \| GHR 9163 \| AMLCR2 \| CTD_human 2521 \| FUS \| UNIPROT 366 \| AQP9 \| CTD_human 4599 \| MX1 \| CTD_human 8028 \| MLLT10 \| CTD_human 5142 \| PDE4B \| CTD_human 945 \| CD33 \| CTD_human 11326 \| VSIG4 \| CTD_human 2120 \| ETV6 \| CLINVAR;CTD_human;UNIPROT 11040 \| PIM2 \| CTD_human 840 \| CASP7 \| CTD_human 113 \| ADCY7 \| CTD_human 4066 \| LYL1 \| CTD_human 2672 \| GFI1 \| CTD_human 8833 \| GMPS \| CTD_human 1522 \| CTSZ \| CTD_human 1512 \| CTSH \| CTD_human 7837 \| PXDN \| CTD_human 1021 \| CDK6 \| CTD_human 53826 \| FXYD6 \| CTD_human 7204 \| TRIO \| CTD_human 7280 \| TUBB2A \| CTD_human 11168 \| PSIP1 \| CTD_human 4926 \| NUMA1 \| GHR 4869 \| NPM1 \| CLINVAR;CTD_human;GHR 375790 \| AGRN \| CTD_human 481 \| ATP1B1 \| CTD_human 5914 \| RARA \| GHR 6919 \| TCEA2 \| CTD_human 1050 \| CEBPA \| CLINVAR;CTD_human;UNIPROT 960 \| CD44 \| CTD_human 8301 \| PICALM \| CTD_human 3005 \| H1F0 \| CTD_human 928 \| CD9 \| CTD_human 5457 \| POU4F1 \| CTD_human 55740 \| ENAH \| CTD_human 6688 \| SPI1 \| CTD_human 1052 \| CEBPD \| CTD_human 30845 \| EHD3 \| CTD_human 9145 \| SYNGR1 \| CTD_human 3006 \| HIST1H1C \| CTD_human 2308 \| FOXO1 \| CTD_human 26511 \| CHIC2 \| CTD_human 343641 \| TGM6 \| CLINVAR 1978 \| EIF4EBP1 \| CTD_human 822 \| CAPG \| CTD_human 8021 \| NUP214 \| CTD_human 2274 \| FHL2 \| CTD_human 4026 \| LPP \| CTD_human 6678 \| SPARC \| CTD_human 1269 \| CNR2 \| CTD_human 51510 \| CHMP5 \| CTD_human 8847 \| DLEU2 \| CTD_human 51428 \| DDX41 \| CLINVAR 79870 \| BAALC \| CTD_human 8623 \| ASMTL \| CTD_human 10437 \| IFI30 \| CTD_human 6279 \| S100A8 \| CTD_human 5997 \| RGS2 \| CTD_human 824 \| CAPN2 \| CTD_human 6281 \| S100A10 \| CTD_human 1902 \| LPAR1 \| CTD_human 4291 \| MLF1 \| CTD_human 4928 \| NUP98 \| CTD_human 23365 \| ARHGEF12 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:155) 1050 \| CEBPA \| CIPHER;CTD_human 355 \| FAS \| CIPHER;CTD_human 2322 \| FLT3 \| CIPHER;CTD_human 4292 \| MLH1 \| CIPHER 5243 \| ABCB1 \| CIPHER 978 \| CDA \| CIPHER 2067 \| ERCC1 \| CIPHER 2068 \| ERCC2 \| CIPHER 2073 \| ERCC5 \| CIPHER 2952 \| GSTT1 \| CIPHER 8856 \| NR1I2 \| CIPHER 6819 \| SULT1C2 \| CIPHER 7153 \| TOP2A \| CIPHER 7422 \| VEGFA \| CIPHER 7507 \| XPA \| CIPHER 3717 \| JAK2 \| CIPHER;CTD_human 2052 \| EPHX1 \| CIPHER 2944 \| GSTM1 \| CIPHER 3815 \| KIT \| CIPHER;CTD_human 3845 \| KRAS \| CIPHER 4353 \| MPO \| CIPHER 1728 \| NQO1 \| CIPHER 8714 \| ABCC3 \| CIPHER 9429 \| ABCG2 \| CIPHER 332 \| BIRC5 \| CIPHER 902 \| CCNH \| CIPHER 1577 \| CYP3A5 \| CIPHER 780 \| DDR1 \| CIPHER 1788 \| DNMT3A \| CIPHER 356 \| FASLG \| CIPHER 2950 \| GSTP1 \| CIPHER 3417 \| IDH1 \| CIPHER 3418 \| IDH2 \| CIPHER 3716 \| JAK1 \| CIPHER 4193 \| MDM2 \| CIPHER 9 \| NAT1 \| CIPHER 10 \| NAT2 \| CIPHER 4763 \| NF1 \| CIPHER;CTD_human 4869 \| NPM1 \| CIPHER;CTD_human 4893 \| NRAS \| CIPHER 4914 \| NTRK1 \| CIPHER 5781 \| PTPN11 \| CIPHER 5888 \| RAD51 \| CIPHER 5921 \| RASA1 \| CIPHER 861 \| RUNX1 \| CIPHER;CTD_human 9154 \| SLC28A1 \| CIPHER 6654 \| SOS1 \| CIPHER 6688 \| SPI1 \| CIPHER;CTD_human 7012 \| TERC \| CIPHER 7015 \| TERT \| CIPHER 7157 \| TP53 \| CIPHER 7297 \| TYK2 \| CIPHER 7490 \| WT1 \| CIPHER;CTD_human 7508 \| XPC \| CIPHER 7517 \| XRCC3 \| CIPHER 81552 \| VOPP1 \| CTD_human 862 \| RUNX1T1 \| CTD_human 2026 \| ENO2 \| CTD_human 10125 \| RASGRP1 \| CTD_human 3398 \| ID2 \| CTD_human 6840 \| SVIL \| CTD_human 4629 \| MYH11 \| CTD_human 3205 \| HOXA9 \| CTD_human 6455 \| SH3GL1 \| CTD_human 2624 \| GATA2 \| CTD_human 6446 \| SGK1 \| CTD_human 7249 \| TSC2 \| CTD_human 2969 \| GTF2I \| CTD_human 10634 \| GAS2L1 \| CTD_human 309 \| ANXA6 \| CTD_human 307 \| ANXA4 \| CTD_human 308 \| ANXA5 \| CTD_human 302 \| ANXA2 \| CTD_human 60468 \| BACH2 \| CTD_human 9163 \| AMLCR2 \| CTD_human 4599 \| MX1 \| CTD_human 1436 \| CSF1R \| CTD_human 945 \| CD33 \| CTD_human 11326 \| VSIG4 \| CTD_human 3082 \| HGF \| CTD_human 11040 \| PIM2 \| CTD_human 840 \| CASP7 \| CTD_human 113 \| ADCY7 \| CTD_human 8833 \| GMPS \| CTD_human 1522 \| CTSZ \| CTD_human 1512 \| CTSH \| CTD_human 596 \| BCL2 \| CTD_human 10801 \| 9-Sep \| CTD_human 53826 \| FXYD6 \| CTD_human 1471 \| CST3 \| CTD_human 7280 \| TUBB2A \| CTD_human 11168 \| PSIP1 \| CTD_human 481 \| ATP1B1 \| CTD_human 6919 \| TCEA2 \| CTD_human 3315 \| HSPB1 \| CTD_human 375790 \| AGRN \| CTD_human 1495 \| CTNNA1 \| CTD_human 3005 \| H1F0 \| CTD_human 64324 \| NSD1 \| CTD_human 4297 \| KMT2A \| CTD_human 7200 \| TRH \| CTD_human 864 \| RUNX3 \| CTD_human 1052 \| CEBPD \| CTD_human 7204 \| TRIO \| CTD_human 5142 \| PDE4B \| CTD_human 30845 \| EHD3 \| CTD_human 3006 \| HIST1H1C \| CTD_human 55740 \| ENAH \| CTD_human 4066 \| LYL1 \| CTD_human 8743 \| TNFSF10 \| CTD_human 26511 \| CHIC2 \| CTD_human 1978 \| EIF4EBP1 \| CTD_human 1440 \| CSF3 \| CTD_human 1437 \| CSF2 \| CTD_human 822 \| CAPG \| CTD_human 4233 \| MET \| CTD_human 2274 \| FHL2 \| CTD_human 5457 \| POU4F1 \| CTD_human 7837 \| PXDN \| CTD_human 6678 \| SPARC \| CTD_human 2672 \| GFI1 \| CTD_human 4609 \| MYC \| CTD_human 8021 \| NUP214 \| CTD_human 1612 \| DAPK1 \| CTD_human 8028 \| MLLT10 \| CTD_human 1021 \| CDK6 \| CTD_human 865 \| CBFB \| CTD_human 81848 \| SPRY4 \| CTD_human 2308 \| FOXO1 \| CTD_human 51510 \| CHMP5 \| CTD_human 8847 \| DLEU2 \| CTD_human 58508 \| KMT2C \| CTD_human 366 \| AQP9 \| CTD_human 6774 \| STAT3 \| CTD_human 9145 \| SYNGR1 \| CTD_human 4026 \| LPP \| CTD_human 8301 \| PICALM \| CTD_human 79870 \| BAALC \| CTD_human 8623 \| ASMTL \| CTD_human 1269 \| CNR2 \| CTD_human 10437 \| IFI30 \| CTD_human 6279 \| S100A8 \| CTD_human 5997 \| RGS2 \| CTD_human 2078 \| ERG \| CTD_human 54904 \| WHSC1L1 \| CTD_human 928 \| CD9 \| CTD_human 824 \| CAPN2 \| CTD_human 6281 \| S100A10 \| CTD_human 1902 \| LPAR1 \| CTD_human 4291 \| MLF1 \| CTD_human 4330 \| MN1 \| CTD_human 4928 \| NUP98 \| CTD_human 960 \| CD44 \| CTD_human 2120 \| ETV6 \| CTD_human 23365 \| ARHGEF12 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:535) 23461 \| ABCA5 \| 1.292 \| DISEASES 4363 \| ABCC1 \| 2.544 \| DISEASES 10257 \| ABCC4 \| 1.196 \| DISEASES 10057 \| ABCC5 \| 1.361 \| DISEASES 25 \| ABL1 \| 4.73 \| DISEASES 27 \| ABL2 \| 1.974 \| DISEASES 60 \| ACTB \| 1.932 \| DISEASES 121536 \| AEBP2 \| 1.213 \| DISEASES 4299 \| AFF1 \| 3.609 \| DISEASES 8644 \| AKR1C3 \| 1.018 \| DISEASES 238 \| ALK \| 1.496 \| DISEASES 283 \| ANG \| 1.094 \| DISEASES 284 \| ANGPT1 \| 2.178 \| DISEASES 22852 \| ANKRD26 \| 2.606 \| DISEASES 23243 \| ANKRD28 \| 1.723 \| DISEASES 196527 \| ANO6 \| 1.549 \| DISEASES 302 \| ANXA2 \| 2.741 \| DISEASES 653145 \| ANXA8 \| 2.458 \| DISEASES 728113 \| ANXA8L1 \| 2.442 \| DISEASES 317 \| APAF1 \| 1.7 \| DISEASES 60489 \| APOBEC3G \| 1.409 \| DISEASES 54840 \| APTX \| 1.07 \| DISEASES 9138 \| ARHGEF1 \| 4.782 \| DISEASES 23365 \| ARHGEF12 \| 1.971 \| DISEASES 10425 \| ARIH2 \| 2.08 \| DISEASES 405 \| ARNT \| 1.63 \| DISEASES 414 \| ARSD \| 2.038 \| DISEASES 51676 \| ASB2 \| 2.4 \| DISEASES 171023 \| ASXL1 \| 5.223 \| DISEASES 55252 \| ASXL2 \| 2.874 \| DISEASES 9474 \| ATG5 \| 1.227 \| DISEASES 10533 \| ATG7 \| 2.1 \| DISEASES 538 \| ATP7A \| 1.675 \| DISEASES 9212 \| AURKB \| 2.896 \| DISEASES 567 \| B2M \| 2.34 \| DISEASES 573 \| BAG1 \| 1.073 \| DISEASES 53335 \| BCL11A \| 1.436 \| DISEASES 596 \| BCL2 \| 1.824 \| DISEASES 10018 \| BCL2L11 \| 2.993 \| DISEASES 54880 \| BCOR \| 3.29 \| DISEASES 8678 \| BECN1 \| 1.924 \| DISEASES 55859 \| BEX1 \| 1.935 \| DISEASES 84707 \| BEX2 \| 2.243 \| DISEASES 340542 \| BEX5 \| 1.486 \| DISEASES 57448 \| BIRC6 \| 1.613 \| DISEASES 8548 \| BLZF1 \| 2.318 \| DISEASES 648 \| BMI1 \| 2.851 \| DISEASES 55589 \| BMP2K \| 1.053 \| DISEASES 672 \| BRCA1 \| 1.084 \| DISEASES 675 \| BRCA2 \| 1.238 \| DISEASES 65980 \| BRD9 \| 1.397 \| DISEASES 7862 \| BRPF1 \| 1.687 \| DISEASES 219621 \| C10orf107 \| 1.012 \| DISEASES 283598 \| C14orf177 \| 1.266 \| DISEASES 84267 \| C9orf64 \| 1.793 \| DISEASES 811 \| CALR \| 2.794 \| DISEASES 79823 \| CAMKMT \| 1.027 \| DISEASES 833 \| CARS \| 2.065 \| DISEASES 834 \| CASP1 \| 1.197 \| DISEASES 838 \| CASP5 \| 1.06 \| DISEASES 840 \| CASP7 \| 1.425 \| DISEASES 841 \| CASP8 \| 3.275 \| DISEASES 842 \| CASP9 \| 3.054 \| DISEASES 865 \| CBFB \| 2.447 \| DISEASES 875 \| CBS \| 1.101 \| DISEASES 646019 \| CBY3 \| 1.187 \| DISEASES 137196 \| CCDC26 \| 1.532 \| DISEASES 896 \| CCND3 \| 1.739 \| DISEASES 930 \| CD19 \| 4.797 \| DISEASES 914 \| CD2 \| 4.523 \| DISEASES 4345 \| CD200 \| 2.187 \| DISEASES 50489 \| CD207 \| 1.034 \| DISEASES 51744 \| CD244 \| 1.373 \| DISEASES 919 \| CD247 \| 1.118 \| DISEASES 29126 \| CD274 \| 2.029 \| DISEASES 917 \| CD3G \| 1.031 \| DISEASES 958 \| CD40 \| 1.976 \| DISEASES 959 \| CD40LG \| 1.871 \| DISEASES 960 \| CD44 \| 3.04 \| DISEASES 961 \| CD47 \| 2.722 \| DISEASES 962 \| CD48 \| 1.461 \| DISEASES 921 \| CD5 \| 3.188 \| DISEASES 1043 \| CD52 \| 2.135 \| DISEASES 965 \| CD58 \| 2.429 \| DISEASES 966 \| CD59 \| 1.477 \| DISEASES 9308 \| CD83 \| 2.742 \| DISEASES 942 \| CD86 \| 3.107 \| DISEASES 4267 \| CD99 \| 1.076 \| DISEASES 978 \| CDA \| 3.249 \| DISEASES 995 \| CDC25C \| 1.733 \| DISEASES 983 \| CDK1 \| 2.651 \| DISEASES 1029 \| CDKN2A \| 3.189 \| DISEASES 1032 \| CDKN2D \| 1.649 \| DISEASES 1045 \| CDX2 \| 2.099 \| DISEASES 1046 \| CDX4 \| 3.212 \| DISEASES 1050 \| CEBPA \| 6.395 \| DISEASES 1052 \| CEBPD \| 2.043 \| DISEASES 1111 \| CHEK1 \| 2.779 \| DISEASES 11200 \| CHEK2 \| 1.751 \| DISEASES 1147 \| CHUK \| 1.084 \| DISEASES 1154 \| CISH \| 1.299 \| DISEASES 160364 \| CLEC12A \| 2.856 \| DISEASES 170482 \| CLEC4C \| 2.079 \| DISEASES 171425 \| CLYBL \| 1.03 \| DISEASES 80781 \| COL18A1 \| 1.741 \| DISEASES 1378 \| CR1 \| 5.38 \| DISEASES 1380 \| CR2 \| 1.797 \| DISEASES 1382 \| CRABP2 \| 1.411 \| DISEASES 1385 \| CREB1 \| 2.609 \| DISEASES 1399 \| CRKL \| 1.019 \| DISEASES 1435 \| CSF1 \| 3.292 \| DISEASES 1438 \| CSF2RA \| 2.89 \| DISEASES 1439 \| CSF2RB \| 2.234 \| DISEASES 1441 \| CSF3R \| 4.697 \| DISEASES 728911 \| CT45A2 \| 1.407 \| DISEASES 1499 \| CTNNB1 \| 2.753 \| DISEASES 1523 \| CUX1 \| 1.296 \| DISEASES 6387 \| CXCL12 \| 3.501 \| DISEASES 7852 \| CXCR4 \| 3.676 \| DISEASES 1543 \| CYP1A1 \| 1.221 \| DISEASES 1555 \| CYP2B6 \| 1.154 \| DISEASES 1576 \| CYP3A4 \| 1.408 \| DISEASES 1612 \| DAPK1 \| 2.005 \| DISEASES 1635 \| DCTD \| 1.376 \| DISEASES 1649 \| DDIT3 \| 1.295 \| DISEASES 51428 \| DDX41 \| 1.818 \| DISEASES 7913 \| DEK \| 4.817 \| DISEASES 1665 \| DHX15 \| 1.098 \| DISEASES 22907 \| DHX30 \| 1.12 \| DISEASES 56616 \| DIABLO \| 2.827 \| DISEASES 8788 \| DLK1 \| 1.436 \| DISEASES 9988 \| DMTF1 \| 1.307 \| DISEASES 3301 \| DNAJA1 \| 1.387 \| DISEASES 27000 \| DNAJC2 \| 2.56 \| DISEASES 134218 \| DNAJC21 \| 1.774 \| DISEASES 1786 \| DNMT1 \| 3.784 \| DISEASES 1789 \| DNMT3B \| 2.947 \| DISEASES 1791 \| DNTT \| 3.728 \| DISEASES 9732 \| DOCK4 \| 1.008 \| DISEASES 84444 \| DOT1L \| 3.173 \| DISEASES 8813 \| DPM1 \| 2.338 \| DISEASES 11221 \| DUSP10 \| 1.364 \| DISEASES 1849 \| DUSP7 \| 1.924 \| DISEASES 11319 \| ECD \| 1.232 \| DISEASES 10919 \| EHMT2 \| 1.465 \| DISEASES 1977 \| EIF4E \| 3.129 \| DISEASES 1978 \| EIF4EBP1 \| 2.909 \| DISEASES 1981 \| EIF4G1 \| 1.076 \| DISEASES 1982 \| EIF4G2 \| 2.155 \| DISEASES 2022 \| ENG \| 1.36 \| DISEASES 2053 \| EPHX2 \| 1.638 \| DISEASES 2060 \| EPS15 \| 1.542 \| DISEASES 3266 \| ERAS \| 1.321 \| DISEASES 2113 \| ETS1 \| 2.304 \| DISEASES 2114 \| ETS2 \| 1.978 \| DISEASES 2120 \| ETV6 \| 4.397 \| DISEASES 2130 \| EWSR1 \| 1.21 \| DISEASES 2152 \| F3 \| 3.222 \| DISEASES 2155 \| F7 \| 1.131 \| DISEASES 51313 \| FAM198B \| 1.253 \| DISEASES 2175 \| FANCA \| 2.287 \| DISEASES 2188 \| FANCF \| 1.403 \| DISEASES 2189 \| FANCG \| 1.858 \| DISEASES 55120 \| FANCL \| 1.607 \| DISEASES 355 \| FAS \| 2.775 \| DISEASES 356 \| FASLG \| 2.411 \| DISEASES 2209 \| FCGR1A \| 3.682 \| DISEASES 2213 \| FCGR2B \| 1.001 \| DISEASES 2214 \| FCGR3A \| 3.082 \| DISEASES 9873 \| FCHSD2 \| 1.119 \| DISEASES 2242 \| FES \| 2.23 \| DISEASES 2260 \| FGFR1 \| 3.134 \| DISEASES 2268 \| FGR \| 1.514 \| DISEASES 81608 \| FIP1L1 \| 2.138 \| DISEASES 2313 \| FLI1 \| 1.113 \| DISEASES 2323 \| FLT3LG \| 2.604 \| DISEASES 23048 \| FNBP1 \| 1.3 \| DISEASES 286380 \| FOXD4L3 \| 1.187 \| DISEASES 349334 \| FOXD4L4 \| 1.214 \| DISEASES 2308 \| FOXO1 \| 1.307 \| DISEASES 2309 \| FOXO3 \| 2.674 \| DISEASES 50943 \| FOXP3 \| 1.108 \| DISEASES 118924 \| FRA10AC1 \| 1.36 \| DISEASES 285527 \| FRYL \| 1.814 \| DISEASES 2526 \| FUT4 \| 4.949 \| DISEASES 53827 \| FXYD5 \| 3.095 \| DISEASES 8326 \| FZD9 \| 1.407 \| DISEASES 50486 \| G0S2 \| 1.612 \| DISEASES 9846 \| GAB2 \| 1.682 \| DISEASES 2621 \| GAS6 \| 1.443 \| DISEASES 2623 \| GATA1 \| 4.254 \| DISEASES 2624 \| GATA2 \| 4.96 \| DISEASES 9245 \| GCNT3 \| 1.219 \| DISEASES 8328 \| GFI1B \| 2.19 \| DISEASES 80318 \| GKAP1 \| 1.372 \| DISEASES 2737 \| GLI3 \| 1.047 \| DISEASES 8833 \| GMPS \| 2.828 \| DISEASES 2773 \| GNAI3 \| 1.022 \| DISEASES 2811 \| GP1BA \| 1.839 \| DISEASES 2879 \| GPX4 \| 2.468 \| DISEASES 2932 \| GSK3B \| 1.525 \| DISEASES 2950 \| GSTP1 \| 2.065 \| DISEASES 2993 \| GYPA \| 3.268 \| DISEASES 3014 \| H2AFX \| 2.431 \| DISEASES 10456 \| HAX1 \| 1.73 \| DISEASES 414768 \| HCG24 \| 1.192 \| DISEASES 3055 \| HCK \| 1.75 \| DISEASES 3065 \| HDAC1 \| 3.062 \| DISEASES 3066 \| HDAC2 \| 2.118 \| DISEASES 10013 \| HDAC6 \| 1.676 \| DISEASES 9734 \| HDAC9 \| 1.092 \| DISEASES 10614 \| HEXIM1 \| 2.283 \| DISEASES 8359 \| HIST1H4A \| 1.933 \| DISEASES 8366 \| HIST1H4B \| 1.933 \| DISEASES 8364 \| HIST1H4C \| 1.933 \| DISEASES 8360 \| HIST1H4D \| 1.932 \| DISEASES 8367 \| HIST1H4E \| 1.933 \| DISEASES 8361 \| HIST1H4F \| 1.933 \| DISEASES 8294 \| HIST1H4I \| 1.933 \| DISEASES 8363 \| HIST1H4J \| 1.933 \| DISEASES 8362 \| HIST1H4K \| 1.933 \| DISEASES 8368 \| HIST1H4L \| 1.933 \| DISEASES 8370 \| HIST2H4A \| 1.933 \| DISEASES 554313 \| HIST2H4B \| 1.933 \| DISEASES 121504 \| HIST4H4 \| 1.933 \| DISEASES 3105 \| HLA-A \| 3.062 \| DISEASES 3106 \| HLA-B \| 1.716 \| DISEASES 3107 \| HLA-C \| 2.327 \| DISEASES 3142 \| HLX \| 2.357 \| DISEASES 3161 \| HMMR \| 3.127 \| DISEASES 343069 \| HNRNPCL1 \| 1.06 \| DISEASES 3190 \| HNRNPK \| 1.529 \| DISEASES 9454 \| HOMER3 \| 1.272 \| DISEASES 84525 \| HOPX \| 1.246 \| DISEASES 100506311 \| HOTAIRM1 \| 2.074 \| DISEASES 3201 \| HOXA4 \| 2.186 \| DISEASES 3205 \| HOXA9 \| 5.471 \| DISEASES 3212 \| HOXB2 \| 1.93 \| DISEASES 3214 \| HOXB4 \| 2.549 \| DISEASES 3227 \| HOXC11 \| 1.775 \| DISEASES 3239 \| HOXD13 \| 3.654 \| DISEASES 3320 \| HSP90AA1 \| 2.98 \| DISEASES 3397 \| ID1 \| 2.316 \| DISEASES 3400 \| ID4 \| 2.48 \| DISEASES 3418 \| IDH2 \| 5.517 \| DISEASES 414328 \| IDNK \| 1.015 \| DISEASES 3437 \| IFIT3 \| 2.027 \| DISEASES 3551 \| IKBKB \| 1.088 \| DISEASES 10320 \| IKZF1 \| 3.068 \| DISEASES 3586 \| IL10 \| 2.165 \| DISEASES 11009 \| IL24 \| 1.218 \| DISEASES 3559 \| IL2RA \| 1.182 \| DISEASES 3561 \| IL2RG \| 1.179 \| DISEASES 3563 \| IL3RA \| 5.168 \| DISEASES 3635 \| INPP5D \| 1.232 \| DISEASES 104472848 \| IRAIN \| 1.846 \| DISEASES 3660 \| IRF2 \| 2.116 \| DISEASES 359948 \| IRF2BP2 \| 1.851 \| DISEASES 3676 \| ITGA4 \| 2.012 \| DISEASES 3683 \| ITGAL \| 2.613 \| DISEASES 3684 \| ITGAM \| 4.951 \| DISEASES 3716 \| JAK1 \| 2.46 \| DISEASES 3717 \| JAK2 \| 4.82 \| DISEASES 3718 \| JAK3 \| 1.619 \| DISEASES 221037 \| JMJD1C \| 1.644 \| DISEASES 3725 \| JUN \| 3.401 \| DISEASES 10524 \| KAT5 \| 1.307 \| DISEASES 9920 \| KBTBD11 \| 1.725 \| DISEASES 3767 \| KCNJ11 \| 2.995 \| DISEASES 23028 \| KDM1A \| 2.69 \| DISEASES 84678 \| KDM2B \| 1.5 \| DISEASES 51780 \| KDM3B \| 1.363 \| DISEASES 23081 \| KDM4C \| 1.291 \| DISEASES 55693 \| KDM4D \| 1.838 \| DISEASES 5927 \| KDM5A \| 2.408 \| DISEASES 7403 \| KDM6A \| 2.411 \| DISEASES 3802 \| KIR2DL1 \| 2.739 \| DISEASES 3803 \| KIR2DL2 \| 2.345 \| DISEASES 3804 \| KIR2DL3 \| 1.942 \| DISEASES 3811 \| KIR3DL1 \| 1.815 \| DISEASES 9314 \| KLF4 \| 1.717 \| DISEASES 3821 \| KLRC1 \| 2.389 \| DISEASES 3822 \| KLRC2 \| 1.673 \| DISEASES 3824 \| KLRD1 \| 2.229 \| DISEASES 8844 \| KSR1 \| 1.808 \| DISEASES 3916 \| LAMP1 \| 1.3 \| DISEASES 23185 \| LARP4B \| 1.292 \| DISEASES 10660 \| LBX1 \| 2.588 \| DISEASES 3932 \| LCK \| 2.024 \| DISEASES 84458 \| LCOR \| 1.623 \| DISEASES 8861 \| LDB1 \| 1.005 \| DISEASES 342900 \| LEUTX \| 1.536 \| DISEASES 85329 \| LGALS12 \| 1.572 \| DISEASES 10184 \| LHFPL2 \| 1.204 \| DISEASES 10288 \| LILRB2 \| 1.42 \| DISEASES 285758 \| LINC01268 \| 1.793 \| DISEASES 4045 \| LSAMP \| 1.133 \| DISEASES 4067 \| LYN \| 2.947 \| DISEASES 54682 \| MANSC1 \| 1.052 \| DISEASES 5609 \| MAP2K7 \| 3.575 \| DISEASES 5599 \| MAPK8 \| 3.262 \| DISEASES 23005 \| MAPKBP1 \| 1.138 \| DISEASES 4145 \| MATK \| 1.8 \| DISEASES 54799 \| MBTD1 \| 1.207 \| DISEASES 4163 \| MCC \| 1.153 \| DISEASES 4168 \| MCF2 \| 1.056 \| DISEASES 4170 \| MCL1 \| 4.419 \| DISEASES 4193 \| MDM2 \| 3.137 \| DISEASES 4194 \| MDM4 \| 1.47 \| DISEASES 9439 \| MED23 \| 1.081 \| DISEASES 4208 \| MEF2C \| 1.11 \| DISEASES 84975 \| MFSD5 \| 1.36 \| DISEASES 100507436 \| MICA \| 1.406 \| DISEASES 57591 \| MKL1 \| 2.292 \| DISEASES 8569 \| MKNK1 \| 1.59 \| DISEASES 4291 \| MLF1 \| 4.029 \| DISEASES 10962 \| MLLT11 \| 3.148 \| DISEASES 4300 \| MLLT3 \| 4.896 \| DISEASES 4311 \| MME \| 3.618 \| DISEASES 4318 \| MMP9 \| 1.978 \| DISEASES 4332 \| MNDA \| 1.328 \| DISEASES 5891 \| MOK \| 2.28 \| DISEASES 219972 \| MPEG1 \| 1.712 \| DISEASES 4352 \| MPL \| 3.746 \| DISEASES 10797 \| MTHFD2 \| 1.112 \| DISEASES 4524 \| MTHFR \| 1.635 \| DISEASES 2475 \| MTOR \| 3.247 \| DISEASES 9961 \| MVP \| 2.726 \| DISEASES 4600 \| MX2 \| 1.356 \| DISEASES 91663 \| MYADM \| 1.824 \| DISEASES 4602 \| MYB \| 3.252 \| DISEASES 4609 \| MYC \| 4.54 \| DISEASES 4629 \| MYH11 \| 6.059 \| DISEASES 4626 \| MYH8 \| 1.528 \| DISEASES 64859 \| NABP1 \| 1.014 \| DISEASES 10499 \| NCOA2 \| 3.313 \| DISEASES 9612 \| NCOR2 \| 3.535 \| DISEASES 9436 \| NCR2 \| 2.167 \| DISEASES 259197 \| NCR3 \| 2.782 \| DISEASES 10529 \| NEBL \| 1.163 \| DISEASES 4763 \| NF1 \| 2.619 \| DISEASES 4780 \| NFE2L2 \| 1.093 \| DISEASES 4798 \| NFRKB \| 1.524 \| DISEASES 654364 \| NME1-NME2 \| 1.476 \| DISEASES 4831 \| NME2 \| 1.324 \| DISEASES 3164 \| NR4A1 \| 1.466 \| DISEASES 8013 \| NR4A3 \| 1.963 \| DISEASES 4893 \| NRAS \| 5.145 \| DISEASES 64324 \| NSD1 \| 3.69 \| DISEASES 22978 \| NT5C2 \| 2.4 \| DISEASES 4926 \| NUMA1 \| 3.001 \| DISEASES 8650 \| NUMB \| 1.097 \| DISEASES 8021 \| NUP214 \| 3.812 \| DISEASES 4927 \| NUP88 \| 1.014 \| DISEASES 51203 \| NUSAP1 \| 1.078 \| DISEASES 142 \| PARP1 \| 3.464 \| DISEASES 5079 \| PAX5 \| 2.244 \| DISEASES 5087 \| PBX1 \| 2.889 \| DISEASES 5089 \| PBX2 \| 1.717 \| DISEASES 5090 \| PBX3 \| 3.251 \| DISEASES 5236 \| PGM1 \| 1.528 \| DISEASES 5238 \| PGM3 \| 2.256 \| DISEASES 79142 \| PHF23 \| 3.156 \| DISEASES 84295 \| PHF6 \| 3.21 \| DISEASES 26227 \| PHGDH \| 1.728 \| DISEASES 8301 \| PICALM \| 1.819 \| DISEASES 5277 \| PIGA \| 1.393 \| DISEASES 5293 \| PIK3CD \| 1.812 \| DISEASES 5292 \| PIM1 \| 2.384 \| DISEASES 11040 \| PIM2 \| 2.435 \| DISEASES 415116 \| PIM3 \| 1.326 \| DISEASES 5329 \| PLAUR \| 2.005 \| DISEASES 23236 \| PLCB1 \| 2.895 \| DISEASES 1263 \| PLK3 \| 1.025 \| DISEASES 5359 \| PLSCR1 \| 2.055 \| DISEASES 5366 \| PMAIP1 \| 2.534 \| DISEASES 5406 \| PNLIP \| 1.065 \| DISEASES 5530 \| PPP3CA \| 1.49 \| DISEASES 84106 \| PRAM1 \| 6.044 \| DISEASES 23532 \| PRAME \| 3.973 \| DISEASES 10549 \| PRDX4 \| 1.339 \| DISEASES 100169750 \| PRINS \| 1.318 \| DISEASES 5562 \| PRKAA1 \| 1 \| DISEASES 8842 \| PROM1 \| 2.637 \| DISEASES 11168 \| PSIP1 \| 1.838 \| DISEASES 5688 \| PSMA7 \| 3.692 \| DISEASES 5699 \| PSMB10 \| 1.067 \| DISEASES 56984 \| PSMG2 \| 2.513 \| DISEASES 5728 \| PTEN \| 2.431 \| DISEASES 2185 \| PTK2B \| 1.334 \| DISEASES 8073 \| PTP4A2 \| 1.456 \| DISEASES 11156 \| PTP4A3 \| 1.42 \| DISEASES 5781 \| PTPN11 \| 4.16 \| DISEASES 5786 \| PTPRA \| 1.017 \| DISEASES 5788 \| PTPRC \| 4.458 \| DISEASES 9232 \| PTTG1 \| 1.43 \| DISEASES 5813 \| PURA \| 1.169 \| DISEASES 5814 \| PURB \| 1.728 \| DISEASES 5820 \| PVT1 \| 1.49 \| DISEASES 5888 \| RAD51 \| 2.657 \| DISEASES 5905 \| RANGAP1 \| 2.183 \| DISEASES 5910 \| RAP1GDS1 \| 1.681 \| DISEASES 2889 \| RAPGEF1 \| 2.121 \| DISEASES 5915 \| RARB \| 1.605 \| DISEASES 5916 \| RARG \| 2.275 \| DISEASES 5928 \| RBBP4 \| 1.391 \| DISEASES 64783 \| RBM15 \| 2.748 \| DISEASES 5983 \| RFC3 \| 1.355 \| DISEASES 56963 \| RGMA \| 3.226 \| DISEASES 26150 \| RIBC2 \| 2.403 \| DISEASES 154214 \| RNF217 \| 1.8 \| DISEASES 6050 \| RNH1 \| 1.132 \| DISEASES 6097 \| RORC \| 1.171 \| DISEASES 6146 \| RPL22 \| 1.23 \| DISEASES 9349 \| RPL23 \| 1.826 \| DISEASES 6195 \| RPS6KA1 \| 1.581 \| DISEASES 862 \| RUNX1T1 \| 5.817 \| DISEASES 860 \| RUNX2 \| 4.307 \| DISEASES 864 \| RUNX3 \| 4.033 \| DISEASES 6256 \| RXRA \| 2.395 \| DISEASES 6281 \| S100A10 \| 1.039 \| DISEASES 6280 \| S100A9 \| 1.417 \| DISEASES 54809 \| SAMD9 \| 1.012 \| DISEASES 219285 \| SAMD9L \| 1.488 \| DISEASES 1992 \| SERPINB1 \| 1.121 \| DISEASES 462 \| SERPINC1 \| 2.048 \| DISEASES 5345 \| SERPINF2 \| 2.748 \| DISEASES 6418 \| SET \| 2.184 \| DISEASES 84193 \| SETD3 \| 1.037 \| DISEASES 6419 \| SETMAR \| 1.447 \| DISEASES 10019 \| SH2B3 \| 1.485 \| DISEASES 6464 \| SHC1 \| 1.37 \| DISEASES 6472 \| SHMT2 \| 1.336 \| DISEASES 8778 \| SIGLEC5 \| 1.796 \| DISEASES 27180 \| SIGLEC9 \| 1.085 \| DISEASES 140885 \| SIRPA \| 1.344 \| DISEASES 64078 \| SLC28A3 \| 1.541 \| DISEASES 2030 \| SLC29A1 \| 2.478 \| DISEASES 83650 \| SLC35G5 \| 2.561 \| DISEASES 4089 \| SMAD4 \| 1.23 \| DISEASES 60682 \| SMAP1 \| 1.197 \| DISEASES 6597 \| SMARCA4 \| 1.046 \| DISEASES 8243 \| SMC1A \| 2.343 \| DISEASES 9126 \| SMC3 \| 2.051 \| DISEASES 6622 \| SNCA \| 3.461 \| DISEASES 11267 \| SNF8 \| 1.523 \| DISEASES 692215 \| SNORD112 \| 1.839 \| DISEASES 8651 \| SOCS1 \| 1.745 \| DISEASES 8835 \| SOCS2 \| 1.845 \| DISEASES 6672 \| SP100 \| 2.71 \| DISEASES 11262 \| SP140 \| 2.2 \| DISEASES 9576 \| SPAG6 \| 1.643 \| DISEASES 6693 \| SPN \| 2.933 \| DISEASES 6696 \| SPP1 \| 1.007 \| DISEASES 81848 \| SPRY4 \| 1.127 \| DISEASES 8878 \| SQSTM1 \| 1.287 \| DISEASES 6714 \| SRC \| 3.062 \| DISEASES 6731 \| SRP72 \| 2.243 \| DISEASES 6733 \| SRPK2 \| 1.368 \| DISEASES 6427 \| SRSF2 \| 3.967 \| DISEASES 23635 \| SSBP2 \| 1.702 \| DISEASES 117178 \| SSX2IP \| 1.209 \| DISEASES 6483 \| ST3GAL2 \| 1.161 \| DISEASES 6772 \| STAT1 \| 2.67 \| DISEASES 6776 \| STAT5A \| 5.047 \| DISEASES 7341 \| SUMO1 \| 2.978 \| DISEASES 6613 \| SUMO2 \| 1.718 \| DISEASES 6612 \| SUMO3 \| 1.499 \| DISEASES 6839 \| SUV39H1 \| 1.652 \| DISEASES 54823 \| SWT1 \| 1.804 \| DISEASES 6850 \| SYK \| 2.216 \| DISEASES 8148 \| TAF15 \| 1.241 \| DISEASES 79718 \| TBL1XR1 \| 1.33 \| DISEASES 84260 \| TCHP \| 1.146 \| DISEASES 7010 \| TEK \| 2.165 \| DISEASES 7012 \| TERC \| 2.202 \| DISEASES 80312 \| TET1 \| 1.795 \| DISEASES 54790 \| TET2 \| 6.273 \| DISEASES 200424 \| TET3 \| 1.572 \| DISEASES 7018 \| TF \| 1.288 \| DISEASES 7037 \| TFRC \| 2.661 \| DISEASES 7050 \| TGIF1 \| 1.1 \| DISEASES 7056 \| THBD \| 2.684 \| DISEASES 7088 \| TLE1 \| 1.441 \| DISEASES 7091 \| TLE4 \| 2.754 \| DISEASES 3195 \| TLX1 \| 1.353 \| DISEASES 9777 \| TM9SF4 \| 1.99 \| DISEASES 7124 \| TNF \| 3.592 \| DISEASES 7127 \| TNFAIP2 \| 1.247 \| DISEASES 3604 \| TNFRSF9 \| 2.038 \| DISEASES 8995 \| TNFSF18 \| 1.156 \| DISEASES 10188 \| TNK2 \| 1.017 \| DISEASES 10043 \| TOM1 \| 1.008 \| DISEASES 7150 \| TOP1 \| 2.618 \| DISEASES 7153 \| TOP2A \| 2.265 \| DISEASES 7155 \| TOP2B \| 2.282 \| DISEASES 8848 \| TSC22D1 \| 1.316 \| DISEASES 7295 \| TXN \| 1.56 \| DISEASES 7318 \| UBA7 \| 2.312 \| DISEASES 7325 \| UBE2E2 \| 1.747 \| DISEASES 7329 \| UBE2I \| 2.216 \| DISEASES 51377 \| UCHL5 \| 1.291 \| DISEASES 7371 \| UCK2 \| 1.08 \| DISEASES 80328 \| ULBP2 \| 1.889 \| DISEASES 8408 \| ULK1 \| 1.525 \| DISEASES 9218 \| VAPA \| 2.192 \| DISEASES 7409 \| VAV1 \| 2.405 \| DISEASES 7421 \| VDR \| 1.899 \| DISEASES 7422 \| VEGFA \| 2.902 \| DISEASES 27287 \| VENTX \| 1.787 \| DISEASES 23078 \| VWA8 \| 1.2 \| DISEASES 23038 \| WDTC1 \| 1.24 \| DISEASES 7465 \| WEE1 \| 2.651 \| DISEASES 79971 \| WLS \| 1.319 \| DISEASES 7490 \| WT1 \| 5.573 \| DISEASES 51352 \| WT1-AS \| 1.263 \| DISEASES 9589 \| WTAP \| 1.278 \| DISEASES 331 \| XIAP \| 3.642 \| DISEASES 7514 \| XPO1 \| 2.883 \| DISEASES 7517 \| XRCC3 \| 2.441 \| DISEASES 286451 \| YIPF6 \| 1.936 \| DISEASES 51441 \| YTHDF2 \| 1.106 \| DISEASES 7704 \| ZBTB16 \| 5.442 \| DISEASES 55854 \| ZC3H15 \| 1.505 \| DISEASES 677 \| ZFP36L1 \| 1.699 \| DISEASES 80829 \| ZFP91 \| 1.416 \| DISEASES 161882 \| ZFPM1 \| 1.131 \| DISEASES 84936 \| ZFYVE19 \| 1.451 \| DISEASES 7750 \| ZMYM2 \| 3.333 \| DISEASES 10771 \| ZMYND11 \| 1.218 \| DISEASES 7571 \| ZNF23 \| 1.223 \| DISEASES 10782 \| ZNF274 \| 1.288 \| DISEASES 7580 \| ZNF32 \| 1.001 \| DISEASES 171017 \| ZNF384 \| 1.836 \| DISEASES 100507433 \| ZNF571-AS1 \| 2.395 \| DISEASES
Locus	(Waiting for update.)

Disease ID	808
Disease	leukemia, acute myeloid
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:1) HP:0004808 \| Acute myelogenous leukemia
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:99) HP:0002863 \| Myelodysplastic syndrome \| 46 HP:0001909 \| Leukemia \| 26 HP:0002664 \| Neoplasia \| 14 HP:0100242 \| Sarcoma \| 13 HP:0100495 \| Mastocytosis \| 10 HP:0001880 \| Eosinophilia \| 8 HP:0001875 \| Neutropenia \| 8 HP:0002202 \| Pleural effusion \| 5 HP:0001945 \| Fever \| 5 HP:0002090 \| Pneumonia \| 5 HP:0006775 \| Multiple myeloma \| 5 HP:0100806 \| Sepsis \| 4 HP:0005506 \| Chronic myeloid leukemia \| 4 HP:0001903 \| Anemia \| 4 HP:0012325 \| Chronic myelomonocytic leukemia \| 4 HP:0005528 \| Bone marrow hypoplasia \| 3 HP:0002488 \| Acute leukemias \| 3 HP:0005521 \| Disseminated intravascular coagulation \| 3 HP:0011974 \| Myelofibrosis \| 3 HP:0006721 \| Acute lymphocytic leukemia \| 2 HP:0002013 \| Emesis \| 2 HP:0002665 \| Lymphoma \| 2 HP:0000873 \| Diabetes insipidus \| 2 HP:0012324 \| Myeloid leukemia \| 2 HP:0012115 \| Liver inflammation \| 2 HP:0002960 \| Autoimmune condition \| 2 HP:0100727 \| Histiocytosis \| 2 HP:0004836 \| Acute promyelocytic leukemia \| 2 HP:0002835 \| Aspiration \| 2 HP:0000651 \| Diplopia \| 2 HP:0001873 \| Low platelet count \| 2 HP:0100280 \| Morbus Crohn \| 2 HP:0002017 \| Nausea and vomiting \| 2 HP:0005550 \| Chronic lymphatic leukemia \| 2 HP:0000246 \| Sinus inflammation \| 2 HP:0001658 \| Myocardial infarction \| 1 HP:0002861 \| Melanoma \| 1 HP:0100537 \| Inflammation of the fascia \| 1 HP:0001915 \| Aplastic anemia \| 1 HP:0002615 \| Low blood pressure \| 1 HP:0000554 \| Uveitis \| 1 HP:0001894 \| Thrombocytosis \| 1 HP:0002239 \| Gastrointestinal hemorrhage \| 1 HP:0007641 \| Dyschromatopsia \| 1 HP:0100753 \| Schizophrenia \| 1 HP:0000871 \| Panhypopituitarism \| 1 HP:0004387 \| Enterocolitis \| 1 HP:0001907 \| Thromboembolic disease \| 1 HP:0002716 \| Lymph node hyperplasia \| 1 HP:0100584 \| Endocarditis \| 1 HP:0001251 \| Ataxia \| 1 HP:0100758 \| Gangrene \| 1 HP:0010885 \| Aseptic necrosis \| 1 HP:0030150 \| Plasmacytosis \| 1 HP:0006698 \| Ventricular aneurysm \| 1 HP:0001433 \| Enlarged liver and spleen \| 1 HP:0002617 \| Aneurysmal dilatation \| 1 HP:0002113 \| Pulmonary infiltrates \| 1 HP:0011110 \| Inflammation of tonsils \| 1 HP:0200034 \| Papule \| 1 HP:0200119 \| Acute liver inflammation \| 1 HP:0002584 \| Intestinal hemorrhage \| 1 HP:0100723 \| Gastrointestinal stroma tumor \| 1 HP:0003256 \| Coagulopathy \| 1 HP:0002721 \| Immunodeficiency \| 1 HP:0001919 \| Acute renal failure \| 1 HP:0002352 \| Leukoencephalopathy \| 1 HP:0012189 \| Hodgkin disease \| 1 HP:0001399 \| Liver failure \| 1 HP:0100033 \| Tic disorder \| 1 HP:0001878 \| Haemolytic anaemia \| 1 HP:0001876 \| Low blood cell count \| 1 HP:0005214 \| Bowel obstruction \| 1 HP:0007902 \| Vitreous hemorrhage \| 1 HP:0012174 \| Glioblastoma multiforme \| 1 HP:0001638 \| Cardiomyopathy \| 1 HP:0000212 \| Gingival overgrowth \| 1 HP:0000979 \| Purpura \| 1 HP:0005523 \| Lymphoproliferative disorder \| 1 HP:0001019 \| Exfoliative dermititis \| 1 HP:0002181 \| Cerebral edema \| 1 HP:0003072 \| Hypercalcemia \| 1 HP:0010628 \| Facial palsy, unilateral or bilateral \| 1 HP:0100843 \| Glioblastoma \| 1 HP:0006554 \| Acute hepatic failure \| 1 HP:0000486 \| Squint eyes \| 1 HP:0004820 \| Acute myelomonocytic leukemia \| 1 HP:0002383 \| Encephalitis \| 1 HP:0002018 \| Nausea \| 1 HP:0012254 \| Ewing's sarcoma \| 1 HP:0001287 \| Meningitis \| 1 HP:0002098 \| Respiratory distress \| 1 HP:0001067 \| Neurofibromas \| 1 HP:0000964 \| Eczema \| 1 HP:0011002 \| Osteopetrosis \| 1 HP:0003002 \| Breast carcinoma \| 1 HP:0001278 \| Orthostatic hypotension \| 1 HP:0200036 \| Skin nodule \| 1 HP:0002576 \| Intussusception \| 1

Disease ID	808
Disease	leukemia, acute myeloid
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:41) C0009450 \| infection \| 19 C0152276 \| myeloid sarcoma \| 11 C0004030 \| aspergillosis \| 8 C0021311 \| infections \| 8 C0221013 \| systemic mastocytosis \| 7 C0027947 \| neutropenia \| 6 C0036690 \| sepsis \| 4 C0432412 \| trisomy 8 \| 3 C0152276 \| granulocytic sarcoma \| 3 C0032227 \| pleural effusion \| 3 C0023487 \| acute promyelocytic leukemia \| 2 C0036690 \| septicemia \| 2 C0019080 \| hemorrhage \| 2 C0032285 \| pneumonia \| 2 C0085077 \| sweet's syndrome \| 1 C0015967 \| fever \| 1 C0243026 \| systemic infection \| 1 C0476273 \| respiratory distress \| 1 C0152276 \| chloroma \| 1 C0025289 \| meningitis \| 1 C0005129 \| bernard soulier syndrome \| 1 C0948976 \| leukemia cutis \| 1 C0878544 \| cardiomyopathy \| 1 C0267373 \| intestinal bleeding \| 1 C0042963 \| vomiting \| 1 C0011633 \| dermatomyositis \| 1 C0007965 \| chediak-higashi anomaly \| 1 C0085663 \| plasmacytosis \| 1 C0746883 \| febrile neutropenia \| 1 C0343387 \| neutropenic enterocolitis \| 1 C0023449 \| acute lymphoblastic leukemia \| 1 C0041408 \| turner syndrome \| 1 C1704231 \| neoplastic meningitis \| 1 C0026946 \| fungal infections \| 1 C0008625 \| chromosomal abnormality \| 1 C0012739 \| disseminated intravascular coagulation \| 1 C0162504 \| neutrophilic eccrine hidradenitis \| 1 C0600502 \| hemostatic disorders \| 1 C0024899 \| mast cell disease \| 1 C0040586 \| tracheobronchitis \| 1 C0026946 \| fungal disease \| 1

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

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

All Snps(Total Genotypes:207)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1042522	20232390	7157	TP53	umls:C0023467	BeFree	Postchemotherapy response analysis revealed that AML patients heterozygous for ATM 4138C>T (rs3092856) or GG homozygous for TP53 215C>G (rs1042522) were independently linked to inferior treatment outcomes.	0.156878977	2011	TP53	17	7676154	G	T,C
rs10514611	24886876	23092	ARHGAP26	umls:C0023467	BeFree	In adult myeloid leukemias we found significant associations between the variant allele of PML_rs9479 and decreased AML risk (OR = 0.61 (0.38-0.97), and between variant alleles of IRF8_ rs10514611 and ARHGAP26_rs187729 and increased CML risk (OR = 2.4 (1.12-5.15) and 1.63 (1.07-2.47), respectively).	0.001628651	2014	IRF8	16	85921636	C	T
rs10514611	24886876	5371	PML	umls:C0023467	BeFree	In adult myeloid leukemias we found significant associations between the variant allele of PML_rs9479 and decreased AML risk (OR = 0.61 (0.38-0.97), and between variant alleles of IRF8_ rs10514611 and ARHGAP26_rs187729 and increased CML risk (OR = 2.4 (1.12-5.15) and 1.63 (1.07-2.47), respectively).	0.011943442	2014	IRF8	16	85921636	C	T
rs10514611	24886876	3394	IRF8	umls:C0023467	BeFree	In adult myeloid leukemias we found significant associations between the variant allele of PML_rs9479 and decreased AML risk (OR = 0.61 (0.38-0.97), and between variant alleles of IRF8_ rs10514611 and ARHGAP26_rs187729 and increased CML risk (OR = 2.4 (1.12-5.15) and 1.63 (1.07-2.47), respectively).	0.001628651	2014	IRF8	16	85921636	C	T
rs1078327	21573891	64127	NOD2	umls:C0023467	BeFree	However, a weak association between a single nucleotide polymorphism in the NOD2 gene (R471C) and acute myeloid leukemia in the bone marrow patients (p = 0.029, odds ratio 4.08, 95% CI 1.22-13.67) was detected.	0.005276948	2011	NOD2	16	50711322	C	T
rs10821936	24564228	1053	CEBPE	umls:C0023467	BeFree	The SNPs (IKZF1 rs11978267, ARID5B rs10821936 and rs10994982, CEBPE rs2239633) were genotyped in 265 cases [169 acute lymphoblastic leukemia (ALL) and 96 acute myeloid leukaemia (AML)] and 505 controls by Taqman allelic discrimination assay.	0.003538676	2014	ARID5B	10	61963818	C	T
rs10821936	24564228	84159	ARID5B	umls:C0023467	BeFree	The SNPs (IKZF1 rs11978267, ARID5B rs10821936 and rs10994982, CEBPE rs2239633) were genotyped in 265 cases [169 acute lymphoblastic leukemia (ALL) and 96 acute myeloid leukaemia (AML)] and 505 controls by Taqman allelic discrimination assay.	0.000271442	2014	ARID5B	10	61963818	C	T
rs10994982	24564228	1053	CEBPE	umls:C0023467	BeFree	The SNPs (IKZF1 rs11978267, ARID5B rs10821936 and rs10994982, CEBPE rs2239633) were genotyped in 265 cases [169 acute lymphoblastic leukemia (ALL) and 96 acute myeloid leukaemia (AML)] and 505 controls by Taqman allelic discrimination assay.	0.003538676	2014	ARID5B	10	61950345	A	G
rs10994982	24564228	84159	ARID5B	umls:C0023467	BeFree	The SNPs (IKZF1 rs11978267, ARID5B rs10821936 and rs10994982, CEBPE rs2239633) were genotyped in 265 cases [169 acute lymphoblastic leukemia (ALL) and 96 acute myeloid leukaemia (AML)] and 505 controls by Taqman allelic discrimination assay.	0.000271442	2014	ARID5B	10	61950345	A	G
rs111033557	15863206	7036	TFR2	umls:C0023467	BeFree	We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).	0.000814326	2005	HFE	6	26090939	G	A
rs111033557	15863206	3077	HFE	umls:C0023467	BeFree	We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).	0.001357209	2005	HFE	6	26090939	G	A
rs111033563	15863206	7036	TFR2	umls:C0023467	BeFree	We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).	0.000814326	2005	HFE	6	26092916	A	C
rs111033563	15863206	3077	HFE	umls:C0023467	BeFree	We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).	0.001357209	2005	HFE	6	26092916	A	C
rs11554137	20368538	3417	IDH1	umls:C0023467	GAD	[IDH1 exon four was directly sequenced in 275 CN-AML patients from two subsequent AML multicenter treatment trials and 120 healthy volunteers.]	0.051205501	2010	IDH1	2	208248468	G	A
rs11554137	23184331	3417	IDH1	umls:C0023467	BeFree	rs11554137:C>T) located on IDH1 codon 105 has been associated with a poor outcome in patients with acute myeloid leukemia but has not been investigated in patients with gliomas.	0.051205501	2013	IDH1	2	208248468	G	A
rs11554137	21873548	3417	IDH1	umls:C0023467	BeFree	IDH1 SNP rs11554137 was recently reported in association with poor prognosis in normal karyotype adult acute myeloid leukemia (AML).	0.051205501	2011	IDH1	2	208248468	G	A
rs11978267	24564228	1053	CEBPE	umls:C0023467	BeFree	The SNPs (IKZF1 rs11978267, ARID5B rs10821936 and rs10994982, CEBPE rs2239633) were genotyped in 265 cases [169 acute lymphoblastic leukemia (ALL) and 96 acute myeloid leukaemia (AML)] and 505 controls by Taqman allelic discrimination assay.	0.003538676	2014	IKZF1;LOC105375275	7	50398606	A	G
rs11978267	24564228	84159	ARID5B	umls:C0023467	BeFree	The SNPs (IKZF1 rs11978267, ARID5B rs10821936 and rs10994982, CEBPE rs2239633) were genotyped in 265 cases [169 acute lymphoblastic leukemia (ALL) and 96 acute myeloid leukaemia (AML)] and 505 controls by Taqman allelic discrimination assay.	0.000271442	2014	IKZF1;LOC105375275	7	50398606	A	G
rs121434637	NA	2120	ETV6	umls:C0023467	CLINVAR	NA	0.2605735	NA	ETV6	12	11839202	G	T
rs121909646	NA	2322	FLT3	umls:C0023467	CLINVAR	NA	0.56	NA	FLT3	13	28018504	T	A
rs121912791	NA	1050	CEBPA	umls:C0023467	CLINVAR	NA	0.553105144	NA	CEBPA;CEBPA-AS1	19	33302267	C	A
rs121913237	21163920	4893	NRAS	umls:C0023467	BeFree	Injecting Mx1-Cre, LSL-Nras(G12D) mice with the MOL4070LTR retrovirus causes acute myeloid leukemia that faithfully recapitulates many aspects of human NRAS-associated leukemias, including cooperation with deregulated Evi1 expression.	0.038651823	2011	NRAS	1	114716126	C	T,G,A
rs121913237	25316678	4893	NRAS	umls:C0023467	BeFree	To elucidate the downstream functions of activated NRAS in AML, we used a murine model that harbors Mll-AF9 and a tetracycline-repressible, activated NRAS (NRAS(G12V)).	0.038651823	2015	NRAS	1	114716126	C	T,G,A
rs121913486	NA	2322	FLT3	umls:C0023467	CLINVAR	NA	0.56	NA	FLT3	13	28018503	ATC	-
rs121913488	NA	2322	FLT3	umls:C0023467	CLINVAR	NA	0.56	NA	FLT3	13	28018505	C	T,G,A
rs121913488	22354205	2322	FLT3	umls:C0023467	BeFree	Our FLT3-Aurora kinase inhibitor, CCT137690, successfully inhibited growth of FLT3-ITD-D835Y cells in vitro and in vivo, suggesting that dual FLT3-Aurora inhibition may overcome selective FLT3 inhibitor resistance, in part due to inhibition of Aurora kinase, and may benefit patients with FLT3-mutated AML.	0.56	2012	FLT3	13	28018505	C	T,G,A
rs121913499	20142433	3417	IDH1	umls:C0023467	BeFree	The IDH1 R132C mutation commonly found in AML reduces the affinity for isocitrate, and increases the affinity for NADPH and alpha-KG.	0.051205501	2010	IDH1	2	208248389	G	T,A
rs121913499	20410924	3417	IDH1	umls:C0023467	BeFree	IDH1 mutations included R132C (n=4; two post-PMF AML, one post-PV AML and one PMF) and R132S (n=1; post-PMF AML).	0.051205501	2010	IDH1	2	208248389	G	T,A
rs121913499	22323113	3417	IDH1	umls:C0023467	BeFree	The frequency of IDH1/2 mutations was 56%, and the IDH1 R132C mutation, which is not common in diffuse gliomas or AML, accounted for 40% of these mutations.	0.051205501	2012	IDH1	2	208248389	G	T,A
rs121913500	23111200	3417	IDH1	umls:C0023467	BeFree	The IDH1 R132H point mutation is common in gliomas and acute myelogenous leukemia, but this has not been previously reported in breast carcinoma.	0.051205501	2012	IDH1	2	208248388	C	T
rs121913500	25599133	3417	IDH1	umls:C0023467	BeFree	Here we performed a large-scale RNA interference (RNAi) screen to identify genes that are synthetic lethal to the IDH1(R132H) mutation in AML and identified the anti-apoptotic gene BCL-2.	0.051205501	2014	IDH1	2	208248388	C	T
rs121913500	22172803	3417	IDH1	umls:C0023467	BeFree	Detection of IDH1 R132H mutation in acute myeloid leukemia by mutation-specific immunohistochemistry.	0.051205501	2012	IDH1	2	208248388	C	T
rs121913502	25795706	2322	FLT3	umls:C0023467	BeFree	To determine whether mutant IDH enzymes are valid targets for cancer therapy, we created a mouse model of AML in which mice were transplanted with nucleophosmin1 (NPM)(+/-) hematopoietic stem/progenitor cells cotransduced with four mutant genes (NPMc, IDH2/R140Q, DNMT3A/R882H, and FLT3/ITD), which often occur simultaneously in human AML patients.	0.56	2015	IDH2	15	90088702	C	T
rs121913502	25795706	1788	DNMT3A	umls:C0023467	BeFree	To determine whether mutant IDH enzymes are valid targets for cancer therapy, we created a mouse model of AML in which mice were transplanted with nucleophosmin1 (NPM)(+/-) hematopoietic stem/progenitor cells cotransduced with four mutant genes (NPMc, IDH2/R140Q, DNMT3A/R882H, and FLT3/ITD), which often occur simultaneously in human AML patients.	0.017567777	2015	IDH2	15	90088702	C	T
rs121913502	23949315	3418	IDH2	umls:C0023467	BeFree	Rapid detection of IDH2 (R140Q and R172K) mutations in acute myeloid leukemia.	0.035765652	2013	IDH2	15	90088702	C	T
rs121913503	23949315	3418	IDH2	umls:C0023467	BeFree	Rapid detection of IDH2 (R140Q and R172K) mutations in acute myeloid leukemia.	0.035765652	2013	IDH2	15	90088606	C	T
rs121913504	25109334	3718	JAK3	umls:C0023467	BeFree	Using this screen, we identified interleukin-2 gamma receptor (IL2Rγ) as a critical growth determinant for a JAK3(A572V) mutation-positive acute myeloid leukemia cell line.	0.000542884	2014	JAK3	19	17837200	G	A
rs121913504	25109334	9913	SUPT7L	umls:C0023467	BeFree	Using this screen, we identified interleukin-2 gamma receptor (IL2Rγ) as a critical growth determinant for a JAK3(A572V) mutation-positive acute myeloid leukemia cell line.	0.002171535	2014	JAK3	19	17837200	G	A
rs121913504	25109334	3558	IL2	umls:C0023467	BeFree	Using this screen, we identified interleukin-2 gamma receptor (IL2Rγ) as a critical growth determinant for a JAK3(A572V) mutation-positive acute myeloid leukemia cell line.	0.005971721	2014	JAK3	19	17837200	G	A
rs121913506	NA	3815	KIT	umls:C0023467	CLINVAR	NA	0.301492667	NA	KIT	4	54733154	G	C,T
rs121913507	12393643	3815	KIT	umls:C0023467	BeFree	Substitution of valine (Val) for aspartic acid (Asp) at codon 814 constitutively activates murine c-kit receptor tyrosine kinase (KIT), and Asp816Val mutation, corresponding to murine Asp814Val mutation, is found in patients with mastocytosis and acute myelocytic leukemia.	0.301492667	2003	KIT	4	54733155	A	T
rs121913507	20471335	3815	KIT	umls:C0023467	BeFree	High frequency of concomitant mastocytosis in patients with acute myeloid leukemia exhibiting the transforming KIT mutation D816V.	0.301492667	2010	KIT	4	54733155	A	T
rs121913507	22145956	10153	CEBPZ	umls:C0023467	BeFree	The presence of the KIT D816V mutation in the CBF AML subgroup can therefore not be considered indicative of associated SM.	0.005700279	2012	KIT	4	54733155	A	T
rs121913507	17065430	3815	KIT	umls:C0023467	BeFree	Allele-specific polymerase chain reaction for the imatinib-resistant KIT D816V and D816F mutations in mastocytosis and acute myelogenous leukemia.	0.301492667	2006	KIT	4	54733155	A	T
rs121913507	18986703	3815	KIT	umls:C0023467	BeFree	Chemotherapy and dasatinib induce long-term hematologic and molecular remission in systemic mastocytosis with acute myeloid leukemia with KIT D816V.	0.301492667	2009	KIT	4	54733155	A	T
rs121913514	20227111	3815	KIT	umls:C0023467	BeFree	The t(8;21) Acute Myeloid Leukaemia (AML) Kasumi-1 cell line with N822K KIT mutation, is a model system for leukemogenesis.	0.301492667	2010	KIT	4	54733174	T	A
rs121913514	16213582	3815	KIT	umls:C0023467	BeFree	Kasumi-1 is t(8;21) acute myeloid leukemia (AML) cell line harboring mutated KIT with Asn822Lys substitution.	0.301492667	2006	KIT	4	54733174	T	A
rs121918464	21930766	5781	PTPN11	umls:C0023467	BeFree	Moreover, tissue-specific knock-in of Ptpn11(E76K/+) mutation in lineage-committed myeloid, T lymphoid, and B lymphoid progenitors also results in AML, T-ALL, and B-ALL, respectively.	0.012430244	2011	PTPN11	12	112450406	G	A,C
rs12343867	21791467	3717	JAK2	umls:C0023467	BeFree	Janus kinase 2 rs12343867 single nucleotide polymorphism tagging the 46/1 haplotype was genotyped by LightCycler technology applying melting curve analysis with the hybridization probe detection format in 176 patients with acute myeloid leukemia under 60 years diagnosed consecutively and treated with curative intent.	0.284782823	2011	JAK2;INSL6	9	5074189	T	C
rs13181	24284041	2068	ERCC2	umls:C0023467	BeFree	XPD Lys751Gln and not Asp312Asn polymorphism was associated with chemotherapy-induced cardiotoxicity and response to induction chemotherapy in newly diagnosed cytogenetically normal AML patients.	0.011454097	2015	ERCC2;KLC3	19	45351661	T	A,G
rs137852728	NA	1050	CEBPA	umls:C0023467	CLINVAR	NA	0.553105144	NA	CEBPA;CEBPA-AS1	19	33302347	G	-
rs137852729	NA	1050	CEBPA	umls:C0023467	CLINVAR	NA	0.553105144	NA	CEBPA;CEBPA-AS1	19	33302346	-	G
rs137852730	NA	1050	CEBPA	umls:C0023467	CLINVAR	NA	0.553105144	NA	CEBPA;CEBPA-AS1	19	33302274	G	-
rs137852731	NA	1050	CEBPA	umls:C0023467	CLINVAR	NA	0.553105144	NA	CEBPA;CEBPA-AS1	19	33302213	-	GTAG
rs137852732	NA	1050	CEBPA	umls:C0023467	CLINVAR	NA	0.553105144	NA	CEBPA;CEBPA-AS1	19	33302095	-	CA
rs137852733	NA	1050	CEBPA	umls:C0023467	CLINVAR	NA	0.553105144	NA	CEBPA;CEBPA-AS1	19	33302197	-	G
rs146519482	15863206	3077	HFE	umls:C0023467	BeFree	We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).	0.001357209	2005	HFE	6	26091475	G	C,T
rs146519482	15863206	7036	TFR2	umls:C0023467	BeFree	We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).	0.000814326	2005	HFE	6	26091475	G	C,T
rs147001633	25795706	2322	FLT3	umls:C0023467	BeFree	To determine whether mutant IDH enzymes are valid targets for cancer therapy, we created a mouse model of AML in which mice were transplanted with nucleophosmin1 (NPM)(+/-) hematopoietic stem/progenitor cells cotransduced with four mutant genes (NPMc, IDH2/R140Q, DNMT3A/R882H, and FLT3/ITD), which often occur simultaneously in human AML patients.	0.56	2015	DNMT3A	2	25234373	C	A,G,T
rs147001633	25795706	1788	DNMT3A	umls:C0023467	BeFree	To determine whether mutant IDH enzymes are valid targets for cancer therapy, we created a mouse model of AML in which mice were transplanted with nucleophosmin1 (NPM)(+/-) hematopoietic stem/progenitor cells cotransduced with four mutant genes (NPMc, IDH2/R140Q, DNMT3A/R882H, and FLT3/ITD), which often occur simultaneously in human AML patients.	0.017567777	2015	DNMT3A	2	25234373	C	A,G,T
rs147001633	24656771	1788	DNMT3A	umls:C0023467	BeFree	The R882H DNMT3A mutation associated with AML dominantly inhibits wild-type DNMT3A by blocking its ability to form active tetramers.	0.017567777	2014	DNMT3A	2	25234373	C	A,G,T
rs1569686	24069326	7204	TRIO	umls:C0023467	BeFree	The CGGT, CTAT, TGAT, and CGAT haplotypes of rs6087990, rs1569686, rs6119954, and rs2424908 appeared to significantly increase the AML risk, and the TTGC haplotype appeared to significantly reduce the risk.	0.120271442	2013	DNMT3B	20	32779273	G	C,T
rs1569686	24069326	1789	DNMT3B	umls:C0023467	BeFree	These results suggest that DNMT3B polymorphisms may contribute to the genetic susceptibility to AML; in particular, the G allele of rs1569686 serves as a risk factor for AML, whereas the C allele of rs2424908 represents a potential protective factor.	0.001357209	2013	DNMT3B	20	32779273	G	C,T
rs1569686	24069326	6570	SLC18A1	umls:C0023467	BeFree	The CGGT, CTAT, TGAT, and CGAT haplotypes of rs6087990, rs1569686, rs6119954, and rs2424908 appeared to significantly increase the AML risk, and the TTGC haplotype appeared to significantly reduce the risk.	0.000271442	2013	DNMT3B	20	32779273	G	C,T
rs16754	23550990	7490	WT1	umls:C0023467	BeFree	The single nucleotide polymorphism (SNP) rs16754 of the WT1 gene has been described as a possible prognostic marker in patients with acute myeloid leukemia (AML).	0.174303151	2014	WT1	11	32396399	T	C
rs16754	23070125	7490	WT1	umls:C0023467	BeFree	The single nucleotide polymorphism (SNP) rs16754 of the WT1 gene has been previously described as a possible prognostic marker in normal karyotype acute myeloid leukemia (AML) patients.	0.174303151	2012	WT1	11	32396399	T	C
rs16754	25841655	7490	WT1	umls:C0023467	BeFree	Wilms Tumor 1 rs16754 predicts favorable clinical outcomes for acute myeloid leukemia patients in South Chinese population.	0.174303151	2015	WT1	11	32396399	T	C
rs16754	21189390	7490	WT1	umls:C0023467	BeFree	To analyze the prevalence and clinical implications of Wilms' tumor 1 (WT1) single nucleotide polymorphism (SNP) rs16754 in the context of other prognostic markers in pediatric acute myeloid leukemia (AML).	0.174303151	2011	WT1	11	32396399	T	C
rs17166050	24093751	10111	RAD50	umls:C0023467	BeFree	The frequency of either the AA genotype or A allele of RAD50_rs17166050 were significantly different in controls compared to leukemia group (ALL+AML) (p<0.0019 and p<0.0019, respectively).	0.000271442	2013	RAD50	5	132579521	G	A
rs17433222	20438785	714	C1QC	umls:C0023467	GAD	[Polymorphisms in innate immunity genes and risk of childhood leukemia.]	0.002367032	2010	C1QB	1	22652153	G	A
rs1799782	23662987	7515	XRCC1	umls:C0023467	BeFree	XRCC1 Arg194Trp and Arg399Gln polymorphisms are significantly associated with shorter survival in acute myeloid leukemia.	0.00827274	2014	XRCC1	19	43553422	G	A
rs1799793	24284041	2068	ERCC2	umls:C0023467	BeFree	XPD Lys751Gln and not Asp312Asn polymorphism was associated with chemotherapy-induced cardiotoxicity and response to induction chemotherapy in newly diagnosed cytogenetically normal AML patients.	0.011454097	2015	ERCC2	19	45364001	C	T
rs1799945	15863206	7036	TFR2	umls:C0023467	BeFree	We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).	0.000814326	2005	HFE	6	26090951	C	G
rs1799945	15863206	3077	HFE	umls:C0023467	BeFree	We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).	0.001357209	2005	HFE	6	26090951	C	G
rs1800562	15863206	3077	HFE	umls:C0023467	BeFree	We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).	0.001357209	2005	HFE	6	26092913	G	A
rs1800562	15863206	7036	TFR2	umls:C0023467	BeFree	We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).	0.000814326	2005	HFE	6	26092913	G	A
rs1800562	11836162	3077	HFE	umls:C0023467	BeFree	The divergent frequencies observed for the C282Y mutation in patients with AML and ET highlight the need for larger population studies of HFE mutations in patients with hematologic diseases.	0.001357209	2002	HFE	6	26092913	G	A
rs1800566	22976839	5444	PON1	umls:C0023467	BeFree	The NQO1 rs1800566 (C609T), PON1 rs854560 (L55M), and PON1 rs662 (Q192R) polymorphisms modified risk depending on leukemia subtype (decreased in AML, increased and decreased in ALL, respectively), age strata, and variant genotype combinations.	0.000271442	2012	NQO1	16	69711242	G	A
rs1800713	17367411	1543	CYP1A1	umls:C0023467	BeFree	We analysed the prevalence of genetic polymorphisms of CYP1A12A(T6235C), CYP2E15B(C-1019T), CYP3A41B(A-290G), del{GSTT1}, del{GSTM1}, NQO12(C609T), MTHFR(C677T) and TYMS 2R/3R in 78 t-AML/t-MDS and 458 normal individuals (control group, CG) using real-time and conventional polymerase chain reaction (PCR)-based methods.	0.007262917	2007	CYP3A4	7	99784371	T	C
rs1800713	17367411	4524	MTHFR	umls:C0023467	BeFree	We analysed the prevalence of genetic polymorphisms of CYP1A12A(T6235C), CYP2E15B(C-1019T), CYP3A41B(A-290G), del{GSTT1}, del{GSTM1}, NQO12(C609T), MTHFR(C677T) and TYMS 2R/3R in 78 t-AML/t-MDS and 458 normal individuals (control group, CG) using real-time and conventional polymerase chain reaction (PCR)-based methods.	0.016731045	2007	CYP3A4	7	99784371	T	C
rs1800713	17367411	7298	TYMS	umls:C0023467	BeFree	We analysed the prevalence of genetic polymorphisms of CYP1A12A(T6235C), CYP2E15B(C-1019T), CYP3A41B(A-290G), del{GSTT1}, del{GSTM1}, NQO12(C609T), MTHFR(C677T) and TYMS 2R/3R in 78 t-AML/t-MDS and 458 normal individuals (control group, CG) using real-time and conventional polymerase chain reaction (PCR)-based methods.	0.003452799	2007	CYP3A4	7	99784371	T	C
rs1800713	17367411	1576	CYP3A4	umls:C0023467	BeFree	We analysed the prevalence of genetic polymorphisms of CYP1A12A(T6235C), CYP2E15B(C-1019T), CYP3A41B(A-290G), del{GSTT1}, del{GSTM1}, NQO12(C609T), MTHFR(C677T) and TYMS 2R/3R in 78 t-AML/t-MDS and 458 normal individuals (control group, CG) using real-time and conventional polymerase chain reaction (PCR)-based methods.	0.001357209	2007	CYP3A4	7	99784371	T	C
rs1800713	17367411	1571	CYP2E1	umls:C0023467	BeFree	We analysed the prevalence of genetic polymorphisms of CYP1A12A(T6235C), CYP2E15B(C-1019T), CYP3A41B(A-290G), del{GSTT1}, del{GSTM1}, NQO12(C609T), MTHFR(C677T) and TYMS 2R/3R in 78 t-AML/t-MDS and 458 normal individuals (control group, CG) using real-time and conventional polymerase chain reaction (PCR)-based methods.	0.001628651	2007	CYP3A4	7	99784371	T	C
rs1800713	17761709	1576	CYP3A4	umls:C0023467	BeFree	Carriers of both the RAD51-G135C and CYP3A4-A-290G variants were at highest AML risk (P = 0.003; OR:13,6; 95% CI: 2.0-585.5), suggesting a synergistic effect between these polymorphisms.	0.001357209	2007	CYP3A4	7	99784371	T	C
rs1800713	17761709	5888	RAD51	umls:C0023467	BeFree	Carriers of both the RAD51-G135C and CYP3A4-A-290G variants were at highest AML risk (P = 0.003; OR:13,6; 95% CI: 2.0-585.5), suggesting a synergistic effect between these polymorphisms.	0.009544073	2007	CYP3A4	7	99784371	T	C
rs1800713	17367411	2944	GSTM1	umls:C0023467	BeFree	We analysed the prevalence of genetic polymorphisms of CYP1A12A(T6235C), CYP2E15B(C-1019T), CYP3A41B(A-290G), del{GSTT1}, del{GSTM1}, NQO12(C609T), MTHFR(C677T) and TYMS 2R/3R in 78 t-AML/t-MDS and 458 normal individuals (control group, CG) using real-time and conventional polymerase chain reaction (PCR)-based methods.	0.048997747	2007	CYP3A4	7	99784371	T	C
rs1801270	23167335	7157	TP53	umls:C0023467	BeFree	We suggest that SNPs in the P53 pathway, especially the P21 ser31arg polymorphism and combined polymorphisms especially the P21/ MDM2 might be genetic susceptibility factors in the pathogenesis of AML.	0.156878977	2012	CDKN1A	6	36684194	C	A,T
rs1801270	23167335	4193	MDM2	umls:C0023467	BeFree	MDM2 T309G has a synergistic effect with P21 ser31arg single nucleotide polymorphisms on the risk of acute myeloid leukemia.	0.011791553	2012	CDKN1A	6	36684194	C	A,T
rs1805794	23283743	4683	NBN	umls:C0023467	BeFree	These findings indicated that rs1805794G/C polymorphism in NBS1 may play a protective role in mediating the risk of AML.	0.000542884	2013	NBN	8	89978251	C	G
rs1805794	23283743	55655	NLRP2	umls:C0023467	BeFree	NBS1 rs1805794G>C polymorphism is associated with decreased risk of acute myeloid leukemia in a Chinese population.	0.000542884	2013	NBN	8	89978251	C	G
rs187729	24886876	5371	PML	umls:C0023467	BeFree	In adult myeloid leukemias we found significant associations between the variant allele of PML_rs9479 and decreased AML risk (OR = 0.61 (0.38-0.97), and between variant alleles of IRF8_ rs10514611 and ARHGAP26_rs187729 and increased CML risk (OR = 2.4 (1.12-5.15) and 1.63 (1.07-2.47), respectively).	0.011943442	2014	ARHGAP26	5	143226004	C	T
rs187729	24886876	3394	IRF8	umls:C0023467	BeFree	In adult myeloid leukemias we found significant associations between the variant allele of PML_rs9479 and decreased AML risk (OR = 0.61 (0.38-0.97), and between variant alleles of IRF8_ rs10514611 and ARHGAP26_rs187729 and increased CML risk (OR = 2.4 (1.12-5.15) and 1.63 (1.07-2.47), respectively).	0.001628651	2014	ARHGAP26	5	143226004	C	T
rs187729	24886876	23092	ARHGAP26	umls:C0023467	BeFree	In adult myeloid leukemias we found significant associations between the variant allele of PML_rs9479 and decreased AML risk (OR = 0.61 (0.38-0.97), and between variant alleles of IRF8_ rs10514611 and ARHGAP26_rs187729 and increased CML risk (OR = 2.4 (1.12-5.15) and 1.63 (1.07-2.47), respectively).	0.001628651	2014	ARHGAP26	5	143226004	C	T
rs1982151	17900800	80010	RMI1	umls:C0023467	BeFree	We have analyzed the common polymorphism Ser455Asn in RMI1 and its association with cancer risk in acute myeloid leukemia (AML, N=93), myelodysplatic syndromes (MDS, N=74), and malignant melanoma (MM, N=166).	0.005362824	2007	RMI1	9	84002350	A	G
rs200945282	24968822	4869	NPM1	umls:C0023467	BeFree	We describe a patient with acute myeloid leukemia (AML) who had a normal karyotype at diagnosis and was negative for NPM1 and FLT3 mutations, but had a KIT G565V mutation in exon 11.	0.446321629	2014	KIT	4	54727462	G	T
rs200945282	24968822	2322	FLT3	umls:C0023467	BeFree	We describe a patient with acute myeloid leukemia (AML) who had a normal karyotype at diagnosis and was negative for NPM1 and FLT3 mutations, but had a KIT G565V mutation in exon 11.	0.56	2014	KIT	4	54727462	G	T
rs200945282	24968822	3815	KIT	umls:C0023467	BeFree	We describe a patient with acute myeloid leukemia (AML) who had a normal karyotype at diagnosis and was negative for NPM1 and FLT3 mutations, but had a KIT G565V mutation in exon 11.	0.301492667	2014	KIT	4	54727462	G	T
rs2072671	23287564	978	CDA	umls:C0023467	BeFree	The effect of CDA SNP A79C and gender on CDA expression, enzyme activity, and drug pharmacokinetics/pharmacodynamics was examined in mice and humans, and the impact on overall survival (OS) was evaluated in 5-azacytidine/decitabine-treated patients with MDS (n = 90) and cytarabine-treated patients with acute myeloid leukemia (AML) (n = 76).	0.007177041	2013	CDA	1	20589208	A	C
rs2239633	24564228	1053	CEBPE	umls:C0023467	BeFree	The SNPs (IKZF1 rs11978267, ARID5B rs10821936 and rs10994982, CEBPE rs2239633) were genotyped in 265 cases [169 acute lymphoblastic leukemia (ALL) and 96 acute myeloid leukaemia (AML)] and 505 controls by Taqman allelic discrimination assay.	0.003538676	2014	CEBPE	14	23119848	G	A
rs2239633	24564228	84159	ARID5B	umls:C0023467	BeFree	The SNPs (IKZF1 rs11978267, ARID5B rs10821936 and rs10994982, CEBPE rs2239633) were genotyped in 265 cases [169 acute lymphoblastic leukemia (ALL) and 96 acute myeloid leukaemia (AML)] and 505 controls by Taqman allelic discrimination assay.	0.000271442	2014	CEBPE	14	23119848	G	A
rs2424908	24069326	1789	DNMT3B	umls:C0023467	BeFree	These results suggest that DNMT3B polymorphisms may contribute to the genetic susceptibility to AML; in particular, the G allele of rs1569686 serves as a risk factor for AML, whereas the C allele of rs2424908 represents a potential protective factor.	0.001357209	2013	DNMT3B	20	32772577	C	T
rs2424908	24069326	6570	SLC18A1	umls:C0023467	BeFree	The CGGT, CTAT, TGAT, and CGAT haplotypes of rs6087990, rs1569686, rs6119954, and rs2424908 appeared to significantly increase the AML risk, and the TTGC haplotype appeared to significantly reduce the risk.	0.000271442	2013	DNMT3B	20	32772577	C	T
rs2424908	24069326	7204	TRIO	umls:C0023467	BeFree	The CGGT, CTAT, TGAT, and CGAT haplotypes of rs6087990, rs1569686, rs6119954, and rs2424908 appeared to significantly increase the AML risk, and the TTGC haplotype appeared to significantly reduce the risk.	0.120271442	2013	DNMT3B	20	32772577	C	T
rs25487	23662987	7515	XRCC1	umls:C0023467	BeFree	XRCC1 Arg194Trp and Arg399Gln polymorphisms are significantly associated with shorter survival in acute myeloid leukemia.	0.00827274	2014	XRCC1	19	43551574	T	C
rs25487	12393447	7515	XRCC1	umls:C0023467	GAD	[The genotype distribution of the XRCC1 gene indicates a role for base excision repair in the development of therapy-related acute myeloblastic leukemia.]	0.00827274	2002	XRCC1	19	43551574	T	C
rs267606708	22246246	867	CBL	umls:C0023467	BeFree	We compared SFK and RTK pathway activity and inhibitors in acute myeloid leukemia cell lines containing homozygous R420Q mutation (GDM-1), heterozygous deletion (MOLM13) and wild-type (WT) CBL (THP1, U937).	0.011073035	2012	CBL	11	119278541	G	A
rs28931590	NA	1050	CEBPA	umls:C0023467	CLINVAR	NA	0.553105144	NA	CEBPA;CEBPA-AS1	19	33302164	T	A
rs28934595	15863206	7036	TFR2	umls:C0023467	BeFree	We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).	0.000814326	2005	HFE	6	26091354	A	C
rs28934595	15863206	3077	HFE	umls:C0023467	BeFree	We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).	0.001357209	2005	HFE	6	26091354	A	C
rs28934889	15863206	7036	TFR2	umls:C0023467	BeFree	We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).	0.000814326	2005	HFE	6	26090921	G	A
rs28934889	15863206	3077	HFE	umls:C0023467	BeFree	We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).	0.001357209	2005	HFE	6	26090921	G	A
rs3092856	20232390	7157	TP53	umls:C0023467	BeFree	Postchemotherapy response analysis revealed that AML patients heterozygous for ATM 4138C>T (rs3092856) or GG homozygous for TP53 215C>G (rs1042522) were independently linked to inferior treatment outcomes.	0.156878977	2011	ATM	11	108289005	C	T
rs35719940	25108601	7015	TERT	umls:C0023467	BeFree	Telomerase reverse transcriptase (TERT) A1062T mutation as a prognostic factor in Egyptian patients with acute myeloid leukemia (AML).	0.124538567	2014	TERT;LOC105374613	5	1254479	C	T
rs373667881	22294728	10221	TRIB1	umls:C0023467	BeFree	The bone marrow transfer experiment showed that acute myeloid leukemia development was accelerated by transducing murine bone marrow cells with the R107L mutant in which enhancement of ERK phosphorylation and C/EBPα degradation by Trib1 expression was even greater than in those expressing wild-type.	0.001628651	2012	TRIB1	8	125431222	G	T
rs373667881	22294728	2048	EPHB2	umls:C0023467	BeFree	The bone marrow transfer experiment showed that acute myeloid leukemia development was accelerated by transducing murine bone marrow cells with the R107L mutant in which enhancement of ERK phosphorylation and C/EBPα degradation by Trib1 expression was even greater than in those expressing wild-type.	0.001628651	2012	TRIB1	8	125431222	G	T
rs373667881	22294728	1050	CEBPA	umls:C0023467	BeFree	The bone marrow transfer experiment showed that acute myeloid leukemia development was accelerated by transducing murine bone marrow cells with the R107L mutant in which enhancement of ERK phosphorylation and C/EBPα degradation by Trib1 expression was even greater than in those expressing wild-type.	0.553105144	2012	TRIB1	8	125431222	G	T
rs373667881	22294728	5594	MAPK1	umls:C0023467	BeFree	The bone marrow transfer experiment showed that acute myeloid leukemia development was accelerated by transducing murine bone marrow cells with the R107L mutant in which enhancement of ERK phosphorylation and C/EBPα degradation by Trib1 expression was even greater than in those expressing wild-type.	0.002171535	2012	TRIB1	8	125431222	G	T
rs376588714	15345593	2322	FLT3	umls:C0023467	BeFree	Identification of a novel activating mutation (Y842C) within the activation loop of FLT3 in patients with acute myeloid leukemia (AML).	0.56	2005	FLT3	13	28018483	T	C
rs3794845	20438785	4155	MBP	umls:C0023467	GAD	[Polymorphisms in innate immunity genes and risk of childhood leukemia.]	0.002367032	2010	MBP	18	77002561	G	C
rs386493716	23662987	7515	XRCC1	umls:C0023467	BeFree	XRCC1 Arg194Trp and Arg399Gln polymorphisms are significantly associated with shorter survival in acute myeloid leukemia.	0.00827274	2014	NA	NA	NA	NA	NA
rs386545546	23662987	7515	XRCC1	umls:C0023467	BeFree	XRCC1 Arg194Trp and Arg399Gln polymorphisms are significantly associated with shorter survival in acute myeloid leukemia.	0.00827274	2014	NA	NA	NA	NA	NA
rs386626619	16598306	6774	STAT3	umls:C0023467	BeFree	Thus, while JAK2 V617F is uncommon in de novo AML and probably does not occur in lymphoid malignancy, unexplained STAT3 activation is common in AML.	0.127881746	2006	NA	NA	NA	NA	NA
rs386626619	22571758	7531	YWHAE	umls:C0023467	BeFree	Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AML1) mutations; one carried somatic mosaicism of RUNX1 mutation with JAK2(V617F) mutation and one had dual RUNX1 and FLT3-internal tandem duplication mutations with progression to acute myeloid leukaemia (AML).	0.039359071	2012	NA	NA	NA	NA	NA
rs386626619	19474426	3717	JAK2	umls:C0023467	BeFree	We selected the six patients with myelodysplastic syndromes or AML because they carried acquired rearrangements on chromosome 4q24; we selected the five patients with myeloproliferative disorders because they carried a dominant clone in hematopoietic progenitor cells that was positive for the V617F mutation in the Janus kinase 2 (JAK2) gene.	0.284782823	2009	NA	NA	NA	NA	NA
rs386626619	16598306	2056	EPO	umls:C0023467	BeFree	We hypothesized that the JAK2 V617F mutation might also be present in samples from patients with acute myeloid leukemia (AML), especially erythroleukemia (AML-M6) or megakaryoblastic leukemia (AML-M7), where it might mimic erythropoietin or thrombopoietin signaling.	0.003181358	2006	NA	NA	NA	NA	NA
rs386626619	17363731	4597	MVD	umls:C0023467	BeFree	In a second patient positive for JAK2-V617F at transformation, but with JAK2-V617F-negative leukemic blasts, we found del(11q) in all cells examined, suggesting a common clonal origin of MPD and AML.	0.002442977	2007	NA	NA	NA	NA	NA
rs386626619	22818858	3717	JAK2	umls:C0023467	BeFree	There was a trend toward a more frequent evolution to myelofibrosis when the JAK2(V617F) mutated allele burden was >50% (p=0.09), but not to AML.	0.284782823	2012	NA	NA	NA	NA	NA
rs386626619	22571758	171023	ASXL1	umls:C0023467	BeFree	Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AML1) mutations; one carried somatic mosaicism of RUNX1 mutation with JAK2(V617F) mutation and one had dual RUNX1 and FLT3-internal tandem duplication mutations with progression to acute myeloid leukaemia (AML).	0.051150624	2012	NA	NA	NA	NA	NA
rs386626619	22571758	2322	FLT3	umls:C0023467	BeFree	Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AML1) mutations; one carried somatic mosaicism of RUNX1 mutation with JAK2(V617F) mutation and one had dual RUNX1 and FLT3-internal tandem duplication mutations with progression to acute myeloid leukaemia (AML).	0.56	2012	NA	NA	NA	NA	NA
rs386626619	16831057	3717	JAK2	umls:C0023467	BeFree	JAK2(V617F) was identified in patients previously diagnosed with a myeloproliferative disorder or acute myeloid leukemia transformed from myeloproliferative disorder, whereas a wild-type genotype was identified in patients with reactive conditions or de novo acute myeloid leukemia.	0.284782823	2006	NA	NA	NA	NA	NA
rs386626619	24404189	1978	EIF4EBP1	umls:C0023467	BeFree	Proliferation and survival signaling from both Jak2-V617F and Lyn involving GSK3 and mTOR/p70S6K/4EBP1 in PVTL-1 cell line newly established from acute myeloid leukemia transformed from polycythemia vera.	0.121628651	2013	NA	NA	NA	NA	NA
rs386626619	22571758	3717	JAK2	umls:C0023467	BeFree	Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AML1) mutations; one carried somatic mosaicism of RUNX1 mutation with JAK2(V617F) mutation and one had dual RUNX1 and FLT3-internal tandem duplication mutations with progression to acute myeloid leukaemia (AML).	0.284782823	2012	NA	NA	NA	NA	NA
rs386626619	17363731	3717	JAK2	umls:C0023467	BeFree	In a second patient positive for JAK2-V617F at transformation, but with JAK2-V617F-negative leukemic blasts, we found del(11q) in all cells examined, suggesting a common clonal origin of MPD and AML.	0.284782823	2007	NA	NA	NA	NA	NA
rs386626619	20153505	3717	JAK2	umls:C0023467	BeFree	A JAK2 V617F mutation was identified in one patient who had acute myeloid leukemia with concurrent mast cell disease.	0.284782823	2010	NA	NA	NA	NA	NA
rs386626619	22571758	23451	SF3B1	umls:C0023467	BeFree	Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AML1) mutations; one carried somatic mosaicism of RUNX1 mutation with JAK2(V617F) mutation and one had dual RUNX1 and FLT3-internal tandem duplication mutations with progression to acute myeloid leukaemia (AML).	0.040444839	2012	NA	NA	NA	NA	NA
rs386626619	21786333	3717	JAK2	umls:C0023467	BeFree	In the test of blind screening of 223 samples (111 Ph- MPNs, 60 Ph+ chronic myeloid leukemia, and 52 acute myeloid leukemia), JAK2 V617F mutations were found in 78 (70%) patients with MPNs, but in none with chronic and acute myeloid leukemia.	0.284782823	2011	NA	NA	NA	NA	NA
rs386626619	22571758	54790	TET2	umls:C0023467	BeFree	Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AML1) mutations; one carried somatic mosaicism of RUNX1 mutation with JAK2(V617F) mutation and one had dual RUNX1 and FLT3-internal tandem duplication mutations with progression to acute myeloid leukaemia (AML).	0.061237581	2012	NA	NA	NA	NA	NA
rs386626619	22571758	83886	PRSS27	umls:C0023467	BeFree	Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AML1) mutations; one carried somatic mosaicism of RUNX1 mutation with JAK2(V617F) mutation and one had dual RUNX1 and FLT3-internal tandem duplication mutations with progression to acute myeloid leukaemia (AML).	0.004071628	2012	NA	NA	NA	NA	NA
rs386626619	16598306	3717	JAK2	umls:C0023467	BeFree	JAK2 V617F is a rare finding in de novo acute myeloid leukemia, but STAT3 activation is common and remains unexplained.	0.284782823	2006	NA	NA	NA	NA	NA
rs386626619	24404189	3717	JAK2	umls:C0023467	BeFree	Proliferation and survival signaling from both Jak2-V617F and Lyn involving GSK3 and mTOR/p70S6K/4EBP1 in PVTL-1 cell line newly established from acute myeloid leukemia transformed from polycythemia vera.	0.284782823	2013	NA	NA	NA	NA	NA
rs386626619	22411871	2322	FLT3	umls:C0023467	BeFree	JAK2(V617F) and FLT3(ITD)-positive polycythemia vera cells and acute myeloid leukemia cells also produce ROS via MRC-cIII.	0.56	2012	NA	NA	NA	NA	NA
rs386626619	16408098	3717	JAK2	umls:C0023467	BeFree	We screened 79 acute myeloid leukemia (AML) cell lines and found five positive for JAK2 V617F (HEL, MB-02, MUTZ-8, SET-2, UKE-1), 4/5 with histories of MPD/MDS.	0.284782823	2006	NA	NA	NA	NA	NA
rs386626619	22041374	3717	JAK2	umls:C0023467	BeFree	This report describes the first case of myeloid sarcoma with JAK2 V617F mutation and implication of its progression to AML.	0.284782823	2011	NA	NA	NA	NA	NA
rs386626619	24404189	83886	PRSS27	umls:C0023467	BeFree	PVTL-1 cells may provide a valuable model system to elucidate the molecular mechanisms involved in evolution of Jak2-V617F-expressing MPN to AML and to develop novel therapies against this intractable condition.	0.004071628	2013	NA	NA	NA	NA	NA
rs386626619	22571758	5048	PAFAH1B1	umls:C0023467	BeFree	Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AML1) mutations; one carried somatic mosaicism of RUNX1 mutation with JAK2(V617F) mutation and one had dual RUNX1 and FLT3-internal tandem duplication mutations with progression to acute myeloid leukaemia (AML).	0.039359071	2012	NA	NA	NA	NA	NA
rs386626619	16247455	3717	JAK2	umls:C0023467	BeFree	The JAK2 V617F mutation in de novo acute myelogenous leukemias.	0.284782823	2006	NA	NA	NA	NA	NA
rs386626619	22411871	3717	JAK2	umls:C0023467	BeFree	JAK2(V617F) and FLT3(ITD)-positive polycythemia vera cells and acute myeloid leukemia cells also produce ROS via MRC-cIII.	0.284782823	2012	NA	NA	NA	NA	NA
rs386626619	22571758	861	RUNX1	umls:C0023467	BeFree	Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AML1) mutations; one carried somatic mosaicism of RUNX1 mutation with JAK2(V617F) mutation and one had dual RUNX1 and FLT3-internal tandem duplication mutations with progression to acute myeloid leukaemia (AML).	0.260873464	2012	NA	NA	NA	NA	NA
rs386626619	22612514	3717	JAK2	umls:C0023467	BeFree	As his complete blood count included a few myeloid blasts (1% of WBC) and a bone marrow biopsy detected fibrosis without evidence of acute myelogenous leukemia (AML), a diagnosis of extramedullary blastic transformation of PMF was made, which was confirmed later by V617F mutation in Janus kinase-2 in both initial bone marrow biopsy and axillary tumor biopsy specimens.	0.284782823	2012	NA	NA	NA	NA	NA
rs387906553	12384420	1991	ELANE	umls:C0023467	BeFree	To test the hypothesis that these mutations are causative for SCN, we generated transgenic mice carrying a targeted mutation of their Ela2 gene (V72M) reproducing a mutation found in 2 unrelated patients with SCN, one of whom developed AML.	0.001085767	2002	ELANE	19	853022	G	A
rs387907097	NA	343641	TGM6	umls:C0023467	CLINVAR	NA	0.120271442	NA	TGM6	20	2417445	T	G
rs397507444	17071478	4524	MTHFR	umls:C0023467	BeFree	Association between the MTHFR A1298C polymorphism and increased risk of acute myeloid leukemia in Brazilian children.	0.016731045	2006	MTHFR	1	11794407	T	G
rs398122514	NA	2322	FLT3	umls:C0023467	CLINVAR	NA	0.56	NA	FLT3	13	28018487	-	GGATCC
rs4793665	18207572	2944	GSTM1	umls:C0023467	BeFree	We found that the ABCC3 C-211T polymorphism and GSTM1 null genotype have adverse prognostic significance in AML.	0.048997747	2008	ABCC3	17	50634726	C	T
rs4793665	18207572	8714	ABCC3	umls:C0023467	BeFree	We found that the ABCC3 C-211T polymorphism and GSTM1 null genotype have adverse prognostic significance in AML.	0.012158802	2008	ABCC3	17	50634726	C	T
rs587776710	NA	2120	ETV6	umls:C0023467	CLINVAR	NA	0.2605735	NA	ETV6	12	11890994	-	GGG
rs587776806	NA	4869	NPM1	umls:C0023467	CLINVAR	NA	0.446321629	NA	NPM1	5	171410543	-	CATG,CCTG,CGTG,TCTG
rs587776848	NA	1050	CEBPA	umls:C0023467	CLINVAR	NA	0.553105144	NA	CEBPA;CEBPA-AS1	19	33302294	GCGCGGG	-
rs587776849	NA	1050	CEBPA	umls:C0023467	CLINVAR	NA	0.553105144	NA	CEBPA;CEBPA-AS1	19	33302204	-	CGGC
rs606231202	NA	3845	KRAS	umls:C0023467	CLINVAR	NA	0.129087065	NA	KRAS	12	25245355	-	CCA
rs6087990	24069326	6570	SLC18A1	umls:C0023467	BeFree	The CGGT, CTAT, TGAT, and CGAT haplotypes of rs6087990, rs1569686, rs6119954, and rs2424908 appeared to significantly increase the AML risk, and the TTGC haplotype appeared to significantly reduce the risk.	0.000271442	2013	DNMT3B	20	32762102	T	C
rs6087990	24069326	7204	TRIO	umls:C0023467	BeFree	The CGGT, CTAT, TGAT, and CGAT haplotypes of rs6087990, rs1569686, rs6119954, and rs2424908 appeared to significantly increase the AML risk, and the TTGC haplotype appeared to significantly reduce the risk.	0.120271442	2013	DNMT3B	20	32762102	T	C
rs6119954	24069326	7204	TRIO	umls:C0023467	BeFree	The CGGT, CTAT, TGAT, and CGAT haplotypes of rs6087990, rs1569686, rs6119954, and rs2424908 appeared to significantly increase the AML risk, and the TTGC haplotype appeared to significantly reduce the risk.	0.120271442	2013	DNMT3B	20	32776360	G	A
rs6119954	24069326	6570	SLC18A1	umls:C0023467	BeFree	The CGGT, CTAT, TGAT, and CGAT haplotypes of rs6087990, rs1569686, rs6119954, and rs2424908 appeared to significantly increase the AML risk, and the TTGC haplotype appeared to significantly reduce the risk.	0.000271442	2013	DNMT3B	20	32776360	G	A
rs662	22976839	5444	PON1	umls:C0023467	BeFree	The NQO1 rs1800566 (C609T), PON1 rs854560 (L55M), and PON1 rs662 (Q192R) polymorphisms modified risk depending on leukemia subtype (decreased in AML, increased and decreased in ALL, respectively), age strata, and variant genotype combinations.	0.000271442	2012	PON1	7	95308134	T	C
rs703817	20438785	6778	STAT6	umls:C0023467	GAD	[Polymorphisms in innate immunity genes and risk of childhood leukemia.]	0.002367032	2010	STAT6	12	57096045	C	T
rs74315450	21725049	861	RUNX1	umls:C0023467	BeFree	We performed analysis of hematopoiesis from 2 FPD/AML pedigrees with 2 distinct RUNX1 germline mutations, that is, the R139X in a pedigree without AML and the R174Q mutation in a pedigree with AML.	0.260873464	2011	RUNX1	21	34859485	C	T
rs74315450	20694842	861	RUNX1	umls:C0023467	BeFree	RUNX1, which regulates a gene for hematopoiesis, is frequently mutated in AML and, in this study, one out of three patients showed the mutation R174Q in RUNX1.	0.260873464	2010	RUNX1	21	34859485	C	T
rs762890562	NA	51428	DDX41	umls:C0023467	CLINVAR	NA	0.120542884	NA	DDX41	5	177515944	-	CATC
rs77375493	16831057	3717	JAK2	umls:C0023467	BeFree	JAK2(V617F) was identified in patients previously diagnosed with a myeloproliferative disorder or acute myeloid leukemia transformed from myeloproliferative disorder, whereas a wild-type genotype was identified in patients with reactive conditions or de novo acute myeloid leukemia.	0.284782823	2006	JAK2;INSL6	9	5073770	G	A,T
rs77375493	16247455	3717	JAK2	umls:C0023467	BeFree	The JAK2 V617F mutation in de novo acute myelogenous leukemias.	0.284782823	2006	JAK2;INSL6	9	5073770	G	A,T
rs77375493	22571758	2322	FLT3	umls:C0023467	BeFree	Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AML1) mutations; one carried somatic mosaicism of RUNX1 mutation with JAK2(V617F) mutation and one had dual RUNX1 and FLT3-internal tandem duplication mutations with progression to acute myeloid leukaemia (AML).	0.56	2012	JAK2;INSL6	9	5073770	G	A,T
rs77375493	22411871	3717	JAK2	umls:C0023467	BeFree	JAK2(V617F) and FLT3(ITD)-positive polycythemia vera cells and acute myeloid leukemia cells also produce ROS via MRC-cIII.	0.284782823	2012	JAK2;INSL6	9	5073770	G	A,T
rs77375493	17363731	3717	JAK2	umls:C0023467	BeFree	In a second patient positive for JAK2-V617F at transformation, but with JAK2-V617F-negative leukemic blasts, we found del(11q) in all cells examined, suggesting a common clonal origin of MPD and AML.	0.284782823	2007	JAK2;INSL6	9	5073770	G	A,T
rs77375493	22571758	5048	PAFAH1B1	umls:C0023467	BeFree	Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AML1) mutations; one carried somatic mosaicism of RUNX1 mutation with JAK2(V617F) mutation and one had dual RUNX1 and FLT3-internal tandem duplication mutations with progression to acute myeloid leukaemia (AML).	0.039359071	2012	JAK2;INSL6	9	5073770	G	A,T
rs77375493	22612514	3717	JAK2	umls:C0023467	BeFree	As his complete blood count included a few myeloid blasts (1% of WBC) and a bone marrow biopsy detected fibrosis without evidence of acute myelogenous leukemia (AML), a diagnosis of extramedullary blastic transformation of PMF was made, which was confirmed later by V617F mutation in Janus kinase-2 in both initial bone marrow biopsy and axillary tumor biopsy specimens.	0.284782823	2012	JAK2;INSL6	9	5073770	G	A,T
rs77375493	22571758	83886	PRSS27	umls:C0023467	BeFree	Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AML1) mutations; one carried somatic mosaicism of RUNX1 mutation with JAK2(V617F) mutation and one had dual RUNX1 and FLT3-internal tandem duplication mutations with progression to acute myeloid leukaemia (AML).	0.004071628	2012	JAK2;INSL6	9	5073770	G	A,T
rs77375493	17363731	4597	MVD	umls:C0023467	BeFree	In a second patient positive for JAK2-V617F at transformation, but with JAK2-V617F-negative leukemic blasts, we found del(11q) in all cells examined, suggesting a common clonal origin of MPD and AML.	0.002442977	2007	JAK2;INSL6	9	5073770	G	A,T
rs77375493	22818858	3717	JAK2	umls:C0023467	BeFree	There was a trend toward a more frequent evolution to myelofibrosis when the JAK2(V617F) mutated allele burden was >50% (p=0.09), but not to AML.	0.284782823	2012	JAK2;INSL6	9	5073770	G	A,T
rs77375493	24404189	1978	EIF4EBP1	umls:C0023467	BeFree	Proliferation and survival signaling from both Jak2-V617F and Lyn involving GSK3 and mTOR/p70S6K/4EBP1 in PVTL-1 cell line newly established from acute myeloid leukemia transformed from polycythemia vera.	0.121628651	2013	JAK2;INSL6	9	5073770	G	A,T
rs77375493	22571758	861	RUNX1	umls:C0023467	BeFree	Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AML1) mutations; one carried somatic mosaicism of RUNX1 mutation with JAK2(V617F) mutation and one had dual RUNX1 and FLT3-internal tandem duplication mutations with progression to acute myeloid leukaemia (AML).	0.260873464	2012	JAK2;INSL6	9	5073770	G	A,T
rs77375493	16598306	2056	EPO	umls:C0023467	BeFree	We hypothesized that the JAK2 V617F mutation might also be present in samples from patients with acute myeloid leukemia (AML), especially erythroleukemia (AML-M6) or megakaryoblastic leukemia (AML-M7), where it might mimic erythropoietin or thrombopoietin signaling.	0.003181358	2006	JAK2;INSL6	9	5073770	G	A,T
rs77375493	22571758	23451	SF3B1	umls:C0023467	BeFree	Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AML1) mutations; one carried somatic mosaicism of RUNX1 mutation with JAK2(V617F) mutation and one had dual RUNX1 and FLT3-internal tandem duplication mutations with progression to acute myeloid leukaemia (AML).	0.040444839	2012	JAK2;INSL6	9	5073770	G	A,T
rs77375493	22571758	171023	ASXL1	umls:C0023467	BeFree	Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AML1) mutations; one carried somatic mosaicism of RUNX1 mutation with JAK2(V617F) mutation and one had dual RUNX1 and FLT3-internal tandem duplication mutations with progression to acute myeloid leukaemia (AML).	0.051150624	2012	JAK2;INSL6	9	5073770	G	A,T
rs77375493	22571758	54790	TET2	umls:C0023467	BeFree	Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AML1) mutations; one carried somatic mosaicism of RUNX1 mutation with JAK2(V617F) mutation and one had dual RUNX1 and FLT3-internal tandem duplication mutations with progression to acute myeloid leukaemia (AML).	0.061237581	2012	JAK2;INSL6	9	5073770	G	A,T
rs77375493	16598306	6774	STAT3	umls:C0023467	BeFree	Thus, while JAK2 V617F is uncommon in de novo AML and probably does not occur in lymphoid malignancy, unexplained STAT3 activation is common in AML.	0.127881746	2006	JAK2;INSL6	9	5073770	G	A,T
rs77375493	24404189	83886	PRSS27	umls:C0023467	BeFree	PVTL-1 cells may provide a valuable model system to elucidate the molecular mechanisms involved in evolution of Jak2-V617F-expressing MPN to AML and to develop novel therapies against this intractable condition.	0.004071628	2013	JAK2;INSL6	9	5073770	G	A,T
rs77375493	22411871	2322	FLT3	umls:C0023467	BeFree	JAK2(V617F) and FLT3(ITD)-positive polycythemia vera cells and acute myeloid leukemia cells also produce ROS via MRC-cIII.	0.56	2012	JAK2;INSL6	9	5073770	G	A,T
rs77375493	16408098	3717	JAK2	umls:C0023467	BeFree	We screened 79 acute myeloid leukemia (AML) cell lines and found five positive for JAK2 V617F (HEL, MB-02, MUTZ-8, SET-2, UKE-1), 4/5 with histories of MPD/MDS.	0.284782823	2006	JAK2;INSL6	9	5073770	G	A,T
rs77375493	20153505	3717	JAK2	umls:C0023467	BeFree	A JAK2 V617F mutation was identified in one patient who had acute myeloid leukemia with concurrent mast cell disease.	0.284782823	2010	JAK2;INSL6	9	5073770	G	A,T
rs77375493	21786333	3717	JAK2	umls:C0023467	BeFree	In the test of blind screening of 223 samples (111 Ph- MPNs, 60 Ph+ chronic myeloid leukemia, and 52 acute myeloid leukemia), JAK2 V617F mutations were found in 78 (70%) patients with MPNs, but in none with chronic and acute myeloid leukemia.	0.284782823	2011	JAK2;INSL6	9	5073770	G	A,T
rs77375493	22571758	7531	YWHAE	umls:C0023467	BeFree	Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AML1) mutations; one carried somatic mosaicism of RUNX1 mutation with JAK2(V617F) mutation and one had dual RUNX1 and FLT3-internal tandem duplication mutations with progression to acute myeloid leukaemia (AML).	0.039359071	2012	JAK2;INSL6	9	5073770	G	A,T
rs77375493	24404189	3717	JAK2	umls:C0023467	BeFree	Proliferation and survival signaling from both Jak2-V617F and Lyn involving GSK3 and mTOR/p70S6K/4EBP1 in PVTL-1 cell line newly established from acute myeloid leukemia transformed from polycythemia vera.	0.284782823	2013	JAK2;INSL6	9	5073770	G	A,T
rs77375493	22041374	3717	JAK2	umls:C0023467	BeFree	This report describes the first case of myeloid sarcoma with JAK2 V617F mutation and implication of its progression to AML.	0.284782823	2011	JAK2;INSL6	9	5073770	G	A,T
rs77375493	22571758	3717	JAK2	umls:C0023467	BeFree	Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AML1) mutations; one carried somatic mosaicism of RUNX1 mutation with JAK2(V617F) mutation and one had dual RUNX1 and FLT3-internal tandem duplication mutations with progression to acute myeloid leukaemia (AML).	0.284782823	2012	JAK2;INSL6	9	5073770	G	A,T
rs77375493	19474426	3717	JAK2	umls:C0023467	BeFree	We selected the six patients with myelodysplastic syndromes or AML because they carried acquired rearrangements on chromosome 4q24; we selected the five patients with myeloproliferative disorders because they carried a dominant clone in hematopoietic progenitor cells that was positive for the V617F mutation in the Janus kinase 2 (JAK2) gene.	0.284782823	2009	JAK2;INSL6	9	5073770	G	A,T
rs77375493	16598306	3717	JAK2	umls:C0023467	BeFree	JAK2 V617F is a rare finding in de novo acute myeloid leukemia, but STAT3 activation is common and remains unexplained.	0.284782823	2006	JAK2;INSL6	9	5073770	G	A,T
rs797046041	NA	7015	TERT	umls:C0023467	CLINVAR	NA	0.124538567	NA	TERT	5	1282578	G	C
rs80338880	15863206	3077	HFE	umls:C0023467	BeFree	We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).	0.001357209	2005	TFR2;LOC105375428	7	100633100	G	C
rs80338880	15863206	7036	TFR2	umls:C0023467	BeFree	We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).	0.000814326	2005	TFR2;LOC105375428	7	100633100	G	C
rs854560	22976839	5444	PON1	umls:C0023467	BeFree	The NQO1 rs1800566 (C609T), PON1 rs854560 (L55M), and PON1 rs662 (Q192R) polymorphisms modified risk depending on leukemia subtype (decreased in AML, increased and decreased in ALL, respectively), age strata, and variant genotype combinations.	0.000271442	2012	PON1	7	95316772	A	C,G,N,T
rs861539	23747401	7517	XRCC3	umls:C0023467	BeFree	XRCC3 Thr241Met polymorphism and risk of acute myeloid leukemia in a Romanian population.	0.012268423	2013	KLC1;XRCC3	14	103699416	G	A
rs861539	24197983	7517	XRCC3	umls:C0023467	BeFree	The XRCC3 Thr241Met polymorphism might be associated with risk of leukemia in AML.	0.012268423	2013	KLC1;XRCC3	14	103699416	G	A
rs861539	12393447	7517	XRCC3	umls:C0023467	GAD	[The genotype distribution of the XRCC1 gene indicates a role for base excision repair in the development of therapy-related acute myeloblastic leukemia.]	0.012268423	2002	KLC1;XRCC3	14	103699416	G	A
rs9479	24886876	3394	IRF8	umls:C0023467	BeFree	In adult myeloid leukemias we found significant associations between the variant allele of PML_rs9479 and decreased AML risk (OR = 0.61 (0.38-0.97), and between variant alleles of IRF8_ rs10514611 and ARHGAP26_rs187729 and increased CML risk (OR = 2.4 (1.12-5.15) and 1.63 (1.07-2.47), respectively).	0.001628651	2014	PML	15	74036235	A	G
rs9479	24886876	5371	PML	umls:C0023467	BeFree	In adult myeloid leukemias we found significant associations between the variant allele of PML_rs9479 and decreased AML risk (OR = 0.61 (0.38-0.97), and between variant alleles of IRF8_ rs10514611 and ARHGAP26_rs187729 and increased CML risk (OR = 2.4 (1.12-5.15) and 1.63 (1.07-2.47), respectively).	0.011943442	2014	PML	15	74036235	A	G
rs9479	24886876	23092	ARHGAP26	umls:C0023467	BeFree	In adult myeloid leukemias we found significant associations between the variant allele of PML_rs9479 and decreased AML risk (OR = 0.61 (0.38-0.97), and between variant alleles of IRF8_ rs10514611 and ARHGAP26_rs187729 and increased CML risk (OR = 2.4 (1.12-5.15) and 1.63 (1.07-2.47), respectively).	0.001628651	2014	PML	15	74036235	A	G

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0004808	Acute myeloid leukemia	MP:0013663	increased myeloid cell number	greater than the expected number of cells of the myeloid lineage

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0004808	Acute myeloid leukemia	MP:0014130	thymus cysts	presence of fluid-filled spaces lined by epithelium within the thymus; thymic cysts are rare mediastinal lesions and are thought to result from the congenital persistence of thymopharyngeal tracts and acquired, progressive cystic degeneration of thymic (H

Disease ID	808
Disease	leukemia, acute myeloid
Case	(Waiting for update.)