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PedAM

Pediatric Disease Annotations & Medicines



   leukemia, acute myeloid
  

Disease ID 690
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
OMIM
DOID
UMLS
C0023467
MeSH
SNOMED-CT
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:118)
GATA2  |  2624  |  CTD_human;ORPHANET
STAT5B  |  6777  |  GHR
BACH2  |  60468  |  CTD_human
KIT  |  3815  |  CLINVAR;CTD_human
FAS  |  355  |  CTD_human
BCL2  |  596  |  CTD_human
STAT3  |  6774  |  CTD_human
VOPP1  |  81552  |  CTD_human
MET  |  4233  |  CTD_human
MYC  |  4609  |  CTD_human
NF1  |  4763  |  CTD_human
SETBP1  |  26040  |  UNIPROT
ID2  |  3398  |  CTD_human
SVIL  |  6840  |  CTD_human
RUNX1  |  861  |  CTD_human
RUNX3  |  864  |  CTD_human
MYH11  |  4629  |  CTD_human
WT1  |  7490  |  CTD_human
CSF2  |  1437  |  CTD_human
TRIO  |  7204  |  CTD_human
TNFSF10  |  8743  |  CTD_human
CST3  |  1471  |  CTD_human
TERT  |  7015  |  CLINVAR
GFI1  |  2672  |  CTD_human
CASP7  |  840  |  CTD_human
MX1  |  4599  |  CTD_human
TSC2  |  7249  |  CTD_human
CSF3  |  1440  |  CTD_human
KMT2C  |  58508  |  CTD_human
KMT2A  |  4297  |  CTD_human
ANXA2  |  302  |  CTD_human
HGF  |  3082  |  CTD_human
MLLT10  |  8028  |  CTD_human
FXYD6  |  53826  |  CTD_human
RASGRP1  |  10125  |  CTD_human
CDK6  |  1021  |  CTD_human
ATP1B1  |  481  |  CTD_human
JAK2  |  3717  |  CTD_human;UNIPROT
TCEA2  |  6919  |  CTD_human
KRAS  |  3845  |  CLINVAR
RARA  |  5914  |  GHR
SPI1  |  6688  |  CTD_human
SPRY4  |  81848  |  CTD_human
NSD1  |  64324  |  CTD_human
CEBPD  |  1052  |  CTD_human
SPARC  |  6678  |  CTD_human
NUMA1  |  4926  |  GHR
ETV6  |  2120  |  CLINVAR;CTD_human
SYNGR1  |  9145  |  CTD_human
FOXO1  |  2308  |  CTD_human
AGRN  |  375790  |  CTD_human
HOXA9  |  3205  |  CTD_human
EIF4EBP1  |  1978  |  CTD_human
ENO2  |  2026  |  CTD_human
POU4F1  |  5457  |  CTD_human
NUP214  |  8021  |  CTD_human
PDE4B  |  5142  |  CTD_human
PICALM  |  8301  |  CTD_human
ZBTB16  |  7704  |  GHR
ANXA5  |  308  |  CTD_human
IFI30  |  10437  |  CTD_human
CAPN2  |  824  |  CTD_human
S100A10  |  6281  |  CTD_human
LPAR1  |  1902  |  CTD_human
NUP98  |  4928  |  CTD_human
CD44  |  960  |  CTD_human
ARHGEF12  |  23365  |  CTD_human
HSPB1  |  3315  |  CTD_human
SGK1  |  6446  |  CTD_human
FLT3  |  2322  |  CLINVAR;CTD_human
TRH  |  7200  |  CTD_human
PXDN  |  7837  |  CTD_human
PML  |  5371  |  GHR
MN1  |  4330  |  CTD_human
ANXA4  |  307  |  CTD_human
ASMTL  |  8623  |  CTD_human
RGS2  |  5997  |  CTD_human
DAPK1  |  1612  |  CTD_human
VSIG4  |  11326  |  CTD_human
ENAH  |  55740  |  CTD_human
PIM2  |  11040  |  CTD_human
CNR2  |  1269  |  CTD_human
CTNNA1  |  1495  |  CTD_human
H1F0  |  3005  |  CTD_human
TUBB2A  |  7280  |  CTD_human
ADCY7  |  113  |  CTD_human
CAPG  |  822  |  CTD_human
TGM6  |  343641  |  CLINVAR
NPM1  |  4869  |  CLINVAR;CTD_human;GHR
ERG  |  2078  |  CTD_human
AMLCR2  |  9163  |  CTD_human
CBFB  |  865  |  CTD_human
CD9  |  928  |  CTD_human
CTSH  |  1512  |  CTD_human
DDX41  |  51428  |  CLINVAR
LYL1  |  4066  |  CTD_human
LPP  |  4026  |  CTD_human
GTF2I  |  2969  |  CTD_human
SH3GL1  |  6455  |  CTD_human
GAS2L1  |  10634  |  CTD_human
CTSZ  |  1522  |  CTD_human
CSF1R  |  1436  |  CTD_human
CD33  |  945  |  CTD_human
AQP9  |  366  |  CTD_human
S100A8  |  6279  |  CTD_human
DLEU2  |  8847  |  CTD_human
BAALC  |  79870  |  CTD_human
CEBPA  |  1050  |  CLINVAR;CTD_human;UNIPROT
RUNX1T1  |  862  |  CTD_human
ANXA6  |  309  |  CTD_human
EHD3  |  30845  |  CTD_human
GMPS  |  8833  |  CTD_human
PSIP1  |  11168  |  CTD_human
HIST1H1C  |  3006  |  CTD_human
CHIC2  |  26511  |  CTD_human
MLF1  |  4291  |  CTD_human
FHL2  |  2274  |  CTD_human
CHMP5  |  51510  |  CTD_human
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:55)
1050  |  CEBPA  |  infer
355  |  FAS  |  infer
2322  |  FLT3  |  infer
4292  |  MLH1  |  infer
5243  |  ABCB1  |  infer
978  |  CDA  |  infer
2067  |  ERCC1  |  infer
2068  |  ERCC2  |  infer
2073  |  ERCC5  |  infer
2952  |  GSTT1  |  infer
8856  |  NR1I2  |  infer
6819  |  SULT1C2  |  infer
7153  |  TOP2A  |  infer
7422  |  VEGFA  |  infer
7507  |  XPA  |  infer
3717  |  JAK2  |  infer
2052  |  EPHX1  |  infer
2944  |  GSTM1  |  infer
3815  |  KIT  |  infer
3845  |  KRAS  |  infer
4353  |  MPO  |  infer
1728  |  NQO1  |  infer
8714  |  ABCC3  |  infer
9429  |  ABCG2  |  infer
332  |  BIRC5  |  infer
902  |  CCNH  |  infer
1577  |  CYP3A5  |  infer
780  |  DDR1  |  infer
1788  |  DNMT3A  |  infer
356  |  FASLG  |  infer
2950  |  GSTP1  |  infer
3417  |  IDH1  |  infer
3418  |  IDH2  |  infer
3716  |  JAK1  |  infer
4193  |  MDM2  |  infer
9  |  NAT1  |  infer
10  |  NAT2  |  infer
4763  |  NF1  |  infer
4869  |  NPM1  |  infer
4893  |  NRAS  |  infer
4914  |  NTRK1  |  infer
5781  |  PTPN11  |  infer
5888  |  RAD51  |  infer
5921  |  RASA1  |  infer
861  |  RUNX1  |  infer
9154  |  SLC28A1  |  infer
6654  |  SOS1  |  infer
6688  |  SPI1  |  infer
7012  |  TERC  |  infer
7015  |  TERT  |  infer
7157  |  TP53  |  infer
7297  |  TYK2  |  infer
7490  |  WT1  |  infer
7508  |  XPC  |  infer
7517  |  XRCC3  |  infer
Text Mined Gene(Waiting for update.)
Locus(Waiting for update.)
Disease ID 690
Disease leukemia, acute myeloid
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:1)
HP:0004808  |  Acute myelogenous leukemia
Text Mined Phenotype(Waiting for update.)
Disease ID 690
Disease leukemia, acute myeloid
Manually Symptom(Waiting for update.)
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining 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
rs1042522202323907157TP53umls:C0023467BeFreePostchemotherapy 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.0.1568789772011TP53177676154GT,C
rs105146112488687623092ARHGAP26umls:C0023467BeFreeIn 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).0.0016286512014IRF81685921636CT
rs10514611248868765371PMLumls:C0023467BeFreeIn 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).0.0119434422014IRF81685921636CT
rs10514611248868763394IRF8umls:C0023467BeFreeIn 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).0.0016286512014IRF81685921636CT
rs10783272157389164127NOD2umls:C0023467BeFreeHowever, 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.0.0052769482011NOD21650711322CT
rs10821936245642281053CEBPEumls:C0023467BeFreeThe 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.0.0035386762014ARID5B1061963818CT
rs108219362456422884159ARID5Bumls:C0023467BeFreeThe 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.0.0002714422014ARID5B1061963818CT
rs10994982245642281053CEBPEumls:C0023467BeFreeThe 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.0.0035386762014ARID5B1061950345AG
rs109949822456422884159ARID5Bumls:C0023467BeFreeThe 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.0.0002714422014ARID5B1061950345AG
rs111033557158632067036TFR2umls:C0023467BeFreeWe 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).0.0008143262005HFE626090939GA
rs111033557158632063077HFEumls:C0023467BeFreeWe 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).0.0013572092005HFE626090939GA
rs111033563158632067036TFR2umls:C0023467BeFreeWe 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).0.0008143262005HFE626092916AC
rs111033563158632063077HFEumls:C0023467BeFreeWe 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).0.0013572092005HFE626092916AC
rs11554137203685383417IDH1umls:C0023467GAD[IDH1 exon four was directly sequenced in 275 CN-AML patients from two subsequent AML multicenter treatment trials and 120 healthy volunteers.]0.0512055012010IDH12208248468GA
rs11554137231843313417IDH1umls:C0023467BeFreers11554137: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.0.0512055012013IDH12208248468GA
rs11554137218735483417IDH1umls:C0023467BeFreeIDH1 SNP rs11554137 was recently reported in association with poor prognosis in normal karyotype adult acute myeloid leukemia (AML).0.0512055012011IDH12208248468GA
rs11978267245642281053CEBPEumls:C0023467BeFreeThe 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.0.0035386762014IKZF1;LOC105375275750398606AG
rs119782672456422884159ARID5Bumls:C0023467BeFreeThe 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.0.0002714422014IKZF1;LOC105375275750398606AG
rs121434637NA2120ETV6umls:C0023467CLINVARNA0.2605735NAETV61211839202GT
rs121909646NA2322FLT3umls:C0023467CLINVARNA0.56NAFLT31328018504TA
rs121912791NA1050CEBPAumls:C0023467CLINVARNA0.553105144NACEBPA;CEBPA-AS11933302267CA
rs121913237211639204893NRASumls:C0023467BeFreeInjecting 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.0.0386518232011NRAS1114716126CT,G,A
rs121913237253166784893NRASumls:C0023467BeFreeTo 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)).0.0386518232015NRAS1114716126CT,G,A
rs121913486NA2322FLT3umls:C0023467CLINVARNA0.56NAFLT31328018503ATC-
rs121913488NA2322FLT3umls:C0023467CLINVARNA0.56NAFLT31328018505CT,G,A
rs121913488223542052322FLT3umls:C0023467BeFreeOur 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.0.562012FLT31328018505CT,G,A
rs121913499201424333417IDH1umls:C0023467BeFreeThe IDH1 R132C mutation commonly found in AML reduces the affinity for isocitrate, and increases the affinity for NADPH and alpha-KG.0.0512055012010IDH12208248389GT,A
rs121913499204109243417IDH1umls:C0023467BeFreeIDH1 mutations included R132C (n=4; two post-PMF AML, one post-PV AML and one PMF) and R132S (n=1; post-PMF AML).0.0512055012010IDH12208248389GT,A
rs121913499223231133417IDH1umls:C0023467BeFreeThe 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.0.0512055012012IDH12208248389GT,A
rs121913500231112003417IDH1umls:C0023467BeFreeThe IDH1 R132H point mutation is common in gliomas and acute myelogenous leukemia, but this has not been previously reported in breast carcinoma.0.0512055012012IDH12208248388CT
rs121913500255991333417IDH1umls:C0023467BeFreeHere 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-2.0.0512055012014IDH12208248388CT
rs121913500221728033417IDH1umls:C0023467BeFreeDetection of IDH1 R132H mutation in acute myeloid leukemia by mutation-specific immunohistochemistry.0.0512055012012IDH12208248388CT
rs121913502257957062322FLT3umls:C0023467BeFreeTo 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.0.562015IDH21590088702CT
rs121913502257957061788DNMT3Aumls:C0023467BeFreeTo 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.0.0175677772015IDH21590088702CT
rs121913502239493153418IDH2umls:C0023467BeFreeRapid detection of IDH2 (R140Q and R172K) mutations in acute myeloid leukemia.0.0357656522013IDH21590088702CT
rs121913503239493153418IDH2umls:C0023467BeFreeRapid detection of IDH2 (R140Q and R172K) mutations in acute myeloid leukemia.0.0357656522013IDH21590088606CT
rs121913504251093343718JAK3umls:C0023467BeFreeUsing 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.0.0005428842014JAK31917837200GA
rs121913504251093349913SUPT7Lumls:C0023467BeFreeUsing 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.0.0021715352014JAK31917837200GA
rs121913504251093343558IL2umls:C0023467BeFreeUsing 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.0.0059717212014JAK31917837200GA
rs121913506NA3815KITumls:C0023467CLINVARNA0.301492667NAKIT454733154GC,T
rs121913507123936433815KITumls:C0023467BeFreeSubstitution 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.0.3014926672003KIT454733155AT
rs121913507204713353815KITumls:C0023467BeFreeHigh frequency of concomitant mastocytosis in patients with acute myeloid leukemia exhibiting the transforming KIT mutation D816V.0.3014926672010KIT454733155AT
rs1219135072214595610153CEBPZumls:C0023467BeFreeThe presence of the KIT D816V mutation in the CBF AML subgroup can therefore not be considered indicative of associated SM.0.0057002792012KIT454733155AT
rs121913507170654303815KITumls:C0023467BeFreeAllele-specific polymerase chain reaction for the imatinib-resistant KIT D816V and D816F mutations in mastocytosis and acute myelogenous leukemia.0.3014926672006KIT454733155AT
rs121913507189867033815KITumls:C0023467BeFreeChemotherapy and dasatinib induce long-term hematologic and molecular remission in systemic mastocytosis with acute myeloid leukemia with KIT D816V.0.3014926672009KIT454733155AT
rs121913514202271113815KITumls:C0023467BeFreeThe t(8;21) Acute Myeloid Leukaemia (AML) Kasumi-1 cell line with N822K KIT mutation, is a model system for leukemogenesis.0.3014926672010KIT454733174TA
rs121913514162135823815KITumls:C0023467BeFreeKasumi-1 is t(8;21) acute myeloid leukemia (AML) cell line harboring mutated KIT with Asn822Lys substitution.0.3014926672006KIT454733174TA
rs121918464219307665781PTPN11umls:C0023467BeFreeMoreover, 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.0.0124302442011PTPN1112112450406GA,C
rs12343867217914673717JAK2umls:C0023467BeFreeJanus 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.0.2847828232011JAK2;INSL695074189TC
rs13181242840412068ERCC2umls:C0023467BeFreeXPD Lys751Gln and not Asp312Asn polymorphism was associated with chemotherapy-induced cardiotoxicity and response to induction chemotherapy in newly diagnosed cytogenetically normal AML patients.0.0114540972015ERCC2;KLC31945351661TA,G
rs137852728NA1050CEBPAumls:C0023467CLINVARNA0.553105144NACEBPA;CEBPA-AS11933302347G-
rs137852729NA1050CEBPAumls:C0023467CLINVARNA0.553105144NACEBPA;CEBPA-AS11933302346-G
rs137852730NA1050CEBPAumls:C0023467CLINVARNA0.553105144NACEBPA;CEBPA-AS11933302274G-
rs137852731NA1050CEBPAumls:C0023467CLINVARNA0.553105144NACEBPA;CEBPA-AS11933302213-GTAG
rs137852732NA1050CEBPAumls:C0023467CLINVARNA0.553105144NACEBPA;CEBPA-AS11933302095-CA
rs137852733NA1050CEBPAumls:C0023467CLINVARNA0.553105144NACEBPA;CEBPA-AS11933302197-G
rs146519482158632063077HFEumls:C0023467BeFreeWe 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).0.0013572092005HFE626091475GC,T
rs146519482158632067036TFR2umls:C0023467BeFreeWe 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).0.0008143262005HFE626091475GC,T
rs147001633257957062322FLT3umls:C0023467BeFreeTo 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.0.562015DNMT3A225234373CA,G,T
rs147001633257957061788DNMT3Aumls:C0023467BeFreeTo 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.0.0175677772015DNMT3A225234373CA,G,T
rs147001633246567711788DNMT3Aumls:C0023467BeFreeThe R882H DNMT3A mutation associated with AML dominantly inhibits wild-type DNMT3A by blocking its ability to form active tetramers.0.0175677772014DNMT3A225234373CA,G,T
rs1569686240693267204TRIOumls:C0023467BeFreeThe 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.0.1202714422013DNMT3B2032779273GC,T
rs1569686240693261789DNMT3Bumls:C0023467BeFreeThese 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.0.0013572092013DNMT3B2032779273GC,T
rs1569686240693266570SLC18A1umls:C0023467BeFreeThe 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.0.0002714422013DNMT3B2032779273GC,T
rs16754235509907490WT1umls:C0023467BeFreeThe single nucleotide polymorphism (SNP) rs16754 of the WT1 gene has been described as a possible prognostic marker in patients with acute myeloid leukemia (AML).0.1743031512014WT11132396399TC
rs16754230701257490WT1umls:C0023467BeFreeThe 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.0.1743031512012WT11132396399TC
rs16754258416557490WT1umls:C0023467BeFreeWilms Tumor 1 rs16754 predicts favorable clinical outcomes for acute myeloid leukemia patients in South Chinese population.0.1743031512015WT11132396399TC
rs16754211893907490WT1umls:C0023467BeFreeTo 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).0.1743031512011WT11132396399TC
rs171660502409375110111RAD50umls:C0023467BeFreeThe 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).0.0002714422013RAD505132579521GA
rs1743322220438785714C1QCumls:C0023467GAD[Polymorphisms in innate immunity genes and risk of childhood leukemia.]0.0023670322010C1QB122652153GA
rs1799782236629877515XRCC1umls:C0023467BeFreeXRCC1 Arg194Trp and Arg399Gln polymorphisms are significantly associated with shorter survival in acute myeloid leukemia.0.008272742014XRCC11943553422GA
rs1799793242840412068ERCC2umls:C0023467BeFreeXPD Lys751Gln and not Asp312Asn polymorphism was associated with chemotherapy-induced cardiotoxicity and response to induction chemotherapy in newly diagnosed cytogenetically normal AML patients.0.0114540972015ERCC21945364001CT
rs1799945158632067036TFR2umls:C0023467BeFreeWe 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).0.0008143262005HFE626090951CG
rs1799945158632063077HFEumls:C0023467BeFreeWe 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).0.0013572092005HFE626090951CG
rs1800562158632063077HFEumls:C0023467BeFreeWe 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).0.0013572092005HFE626092913GA
rs1800562158632067036TFR2umls:C0023467BeFreeWe 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).0.0008143262005HFE626092913GA
rs1800562118361623077HFEumls:C0023467BeFreeThe 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.0.0013572092002HFE626092913GA
rs1800566229768395444PON1umls:C0023467BeFreeThe 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.0.0002714422012NQO11669711242GA
rs1800713173674111543CYP1A1umls:C0023467BeFreeWe analysed the prevalence of genetic polymorphisms of CYP1A1*2A(T6235C), CYP2E1*5B(C-1019T), CYP3A4*1B(A-290G), del{GSTT1}, del{GSTM1}, NQO1*2(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.0.0072629172007CYP3A4799784371TC
rs1800713173674114524MTHFRumls:C0023467BeFreeWe analysed the prevalence of genetic polymorphisms of CYP1A1*2A(T6235C), CYP2E1*5B(C-1019T), CYP3A4*1B(A-290G), del{GSTT1}, del{GSTM1}, NQO1*2(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.0.0167310452007CYP3A4799784371TC
rs1800713173674117298TYMSumls:C0023467BeFreeWe analysed the prevalence of genetic polymorphisms of CYP1A1*2A(T6235C), CYP2E1*5B(C-1019T), CYP3A4*1B(A-290G), del{GSTT1}, del{GSTM1}, NQO1*2(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.0.0034527992007CYP3A4799784371TC
rs1800713173674111576CYP3A4umls:C0023467BeFreeWe analysed the prevalence of genetic polymorphisms of CYP1A1*2A(T6235C), CYP2E1*5B(C-1019T), CYP3A4*1B(A-290G), del{GSTT1}, del{GSTM1}, NQO1*2(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.0.0013572092007CYP3A4799784371TC
rs1800713173674111571CYP2E1umls:C0023467BeFreeWe analysed the prevalence of genetic polymorphisms of CYP1A1*2A(T6235C), CYP2E1*5B(C-1019T), CYP3A4*1B(A-290G), del{GSTT1}, del{GSTM1}, NQO1*2(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.0.0016286512007CYP3A4799784371TC
rs1800713177617091576CYP3A4umls:C0023467BeFreeCarriers 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.0.0013572092007CYP3A4799784371TC
rs1800713177617095888RAD51umls:C0023467BeFreeCarriers 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.0.0095440732007CYP3A4799784371TC
rs1800713173674112944GSTM1umls:C0023467BeFreeWe analysed the prevalence of genetic polymorphisms of CYP1A1*2A(T6235C), CYP2E1*5B(C-1019T), CYP3A4*1B(A-290G), del{GSTT1}, del{GSTM1}, NQO1*2(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.0.0489977472007CYP3A4799784371TC
rs1801270231673357157TP53umls:C0023467BeFreeWe 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.0.1568789772012CDKN1A636684194CA,T
rs1801270231673354193MDM2umls:C0023467BeFreeMDM2 T309G has a synergistic effect with P21 ser31arg single nucleotide polymorphisms on the risk of acute myeloid leukemia.0.0117915532012CDKN1A636684194CA,T
rs1805794232837434683NBNumls:C0023467BeFreeThese findings indicated that rs1805794G/C polymorphism in NBS1 may play a protective role in mediating the risk of AML.0.0005428842013NBN889978251CG
rs18057942328374355655NLRP2umls:C0023467BeFreeNBS1 rs1805794G>C polymorphism is associated with decreased risk of acute myeloid leukemia in a Chinese population.0.0005428842013NBN889978251CG
rs187729248868765371PMLumls:C0023467BeFreeIn 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).0.0119434422014ARHGAP265143226004CT
rs187729248868763394IRF8umls:C0023467BeFreeIn 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).0.0016286512014ARHGAP265143226004CT
rs1877292488687623092ARHGAP26umls:C0023467BeFreeIn 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).0.0016286512014ARHGAP265143226004CT
rs19821511790080080010RMI1umls:C0023467BeFreeWe 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).0.0053628242007RMI1984002350AG
rs200945282249688224869NPM1umls:C0023467BeFreeWe 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 11.0.4463216292014KIT454727462GT
rs200945282249688222322FLT3umls:C0023467BeFreeWe 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 11.0.562014KIT454727462GT
rs200945282249688223815KITumls:C0023467BeFreeWe 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 11.0.3014926672014KIT454727462GT
rs207267123287564978CDAumls:C0023467BeFreeThe 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).0.0071770412013CDA120589208AC
rs2239633245642281053CEBPEumls:C0023467BeFreeThe 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.0.0035386762014CEBPE1423119848GA
rs22396332456422884159ARID5Bumls:C0023467BeFreeThe 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.0.0002714422014CEBPE1423119848GA
rs2424908240693261789DNMT3Bumls:C0023467BeFreeThese 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.0.0013572092013DNMT3B2032772577CT
rs2424908240693266570SLC18A1umls:C0023467BeFreeThe 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.0.0002714422013DNMT3B2032772577CT
rs2424908240693267204TRIOumls:C0023467BeFreeThe 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.0.1202714422013DNMT3B2032772577CT
rs25487236629877515XRCC1umls:C0023467BeFreeXRCC1 Arg194Trp and Arg399Gln polymorphisms are significantly associated with shorter survival in acute myeloid leukemia.0.008272742014XRCC11943551574TC
rs25487123934477515XRCC1umls:C0023467GAD[The genotype distribution of the XRCC1 gene indicates a role for base excision repair in the development of therapy-related acute myeloblastic leukemia.]0.008272742002XRCC11943551574TC
rs26760670822246246867CBLumls:C0023467BeFreeWe 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).0.0110730352012CBL11119278541GA
rs28931590NA1050CEBPAumls:C0023467CLINVARNA0.553105144NACEBPA;CEBPA-AS11933302164TA
rs28934595158632067036TFR2umls:C0023467BeFreeWe 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).0.0008143262005HFE626091354AC
rs28934595158632063077HFEumls:C0023467BeFreeWe 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).0.0013572092005HFE626091354AC
rs28934889158632067036TFR2umls:C0023467BeFreeWe 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).0.0008143262005HFE626090921GA
rs28934889158632063077HFEumls:C0023467BeFreeWe 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).0.0013572092005HFE626090921GA
rs3092856202323907157TP53umls:C0023467BeFreePostchemotherapy 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.0.1568789772011ATM11108289005CT
rs35719940251086017015TERTumls:C0023467BeFreeTelomerase reverse transcriptase (TERT) A1062T mutation as a prognostic factor in Egyptian patients with acute myeloid leukemia (AML).0.1245385672014TERT;LOC10537461351254479CT
rs3736678812229472810221TRIB1umls:C0023467BeFreeThe 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.0.0016286512012TRIB18125431222GT
rs373667881222947282048EPHB2umls:C0023467BeFreeThe 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.0.0016286512012TRIB18125431222GT
rs373667881222947281050CEBPAumls:C0023467BeFreeThe 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.0.5531051442012TRIB18125431222GT
rs373667881222947285594MAPK1umls:C0023467BeFreeThe 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.0.0021715352012TRIB18125431222GT
rs376588714153455932322FLT3umls:C0023467BeFreeIdentification of a novel activating mutation (Y842C) within the activation loop of FLT3 in patients with acute myeloid leukemia (AML).0.562005FLT31328018483TC
rs3794845204387854155MBPumls:C0023467GAD[Polymorphisms in innate immunity genes and risk of childhood leukemia.]0.0023670322010MBP1877002561GC
rs386493716236629877515XRCC1umls:C0023467BeFreeXRCC1 Arg194Trp and Arg399Gln polymorphisms are significantly associated with shorter survival in acute myeloid leukemia.0.008272742014NANANANANA
rs386545546236629877515XRCC1umls:C0023467BeFreeXRCC1 Arg194Trp and Arg399Gln polymorphisms are significantly associated with shorter survival in acute myeloid leukemia.0.008272742014NANANANANA
rs386626619165983066774STAT3umls:C0023467BeFreeThus, while JAK2 V617F is uncommon in de novo AML and probably does not occur in lymphoid malignancy, unexplained STAT3 activation is common in AML.0.1278817462006NANANANANA
rs386626619225717587531YWHAEumls:C0023467BeFreeAmong 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).0.0393590712012NANANANANA
rs386626619194744263717JAK2umls:C0023467BeFreeWe 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.0.2847828232009NANANANANA
rs386626619165983062056EPOumls:C0023467BeFreeWe 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.0.0031813582006NANANANANA
rs386626619173637314597MVDumls:C0023467BeFreeIn 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.0.0024429772007NANANANANA
rs386626619228188583717JAK2umls:C0023467BeFreeThere 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.0.2847828232012NANANANANA
rs38662661922571758171023ASXL1umls:C0023467BeFreeAmong 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).0.0511506242012NANANANANA
rs386626619225717582322FLT3umls:C0023467BeFreeAmong 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).0.562012NANANANANA
rs386626619168310573717JAK2umls:C0023467BeFreeJAK2(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.0.2847828232006NANANANANA
rs386626619244041891978EIF4EBP1umls:C0023467BeFreeProliferation 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.0.1216286512013NANANANANA
rs386626619225717583717JAK2umls:C0023467BeFreeAmong 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).0.2847828232012NANANANANA
rs386626619173637313717JAK2umls:C0023467BeFreeIn 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.0.2847828232007NANANANANA
rs386626619201535053717JAK2umls:C0023467BeFreeA JAK2 V617F mutation was identified in one patient who had acute myeloid leukemia with concurrent mast cell disease.0.2847828232010NANANANANA
rs3866266192257175823451SF3B1umls:C0023467BeFreeAmong 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).0.0404448392012NANANANANA
rs386626619217863333717JAK2umls:C0023467BeFreeIn 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.0.2847828232011NANANANANA
rs3866266192257175854790TET2umls:C0023467BeFreeAmong 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).0.0612375812012NANANANANA
rs3866266192257175883886PRSS27umls:C0023467BeFreeAmong 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).0.0040716282012NANANANANA
rs386626619165983063717JAK2umls:C0023467BeFreeJAK2 V617F is a rare finding in de novo acute myeloid leukemia, but STAT3 activation is common and remains unexplained.0.2847828232006NANANANANA
rs386626619244041893717JAK2umls:C0023467BeFreeProliferation 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.0.2847828232013NANANANANA
rs386626619224118712322FLT3umls:C0023467BeFreeJAK2(V617F) and FLT3(ITD)-positive polycythemia vera cells and acute myeloid leukemia cells also produce ROS via MRC-cIII.0.562012NANANANANA
rs386626619164080983717JAK2umls:C0023467BeFreeWe 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.0.2847828232006NANANANANA
rs386626619220413743717JAK2umls:C0023467BeFreeThis report describes the first case of myeloid sarcoma with JAK2 V617F mutation and implication of its progression to AML.0.2847828232011NANANANANA
rs3866266192440418983886PRSS27umls:C0023467BeFreePVTL-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.0.0040716282013NANANANANA
rs386626619225717585048PAFAH1B1umls:C0023467BeFreeAmong 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).0.0393590712012NANANANANA
rs386626619162474553717JAK2umls:C0023467BeFreeThe JAK2 V617F mutation in de novo acute myelogenous leukemias.0.2847828232006NANANANANA
rs386626619224118713717JAK2umls:C0023467BeFreeJAK2(V617F) and FLT3(ITD)-positive polycythemia vera cells and acute myeloid leukemia cells also produce ROS via MRC-cIII.0.2847828232012NANANANANA
rs38662661922571758861RUNX1umls:C0023467BeFreeAmong 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).0.2608734642012NANANANANA
rs386626619226125143717JAK2umls:C0023467BeFreeAs 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.0.2847828232012NANANANANA
rs387906553123844201991ELANEumls:C0023467BeFreeTo 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.0.0010857672002ELANE19853022GA
rs387907097NA343641TGM6umls:C0023467CLINVARNA0.120271442NATGM6202417445TG
rs397507444170714784524MTHFRumls:C0023467BeFreeAssociation between the MTHFR A1298C polymorphism and increased risk of acute myeloid leukemia in Brazilian children.0.0167310452006MTHFR111794407TG
rs398122514NA2322FLT3umls:C0023467CLINVARNA0.56NAFLT31328018487-GGATCC
rs4793665182075722944GSTM1umls:C0023467BeFreeWe found that the ABCC3 C-211T polymorphism and GSTM1 null genotype have adverse prognostic significance in AML.0.0489977472008ABCC31750634726CT
rs4793665182075728714ABCC3umls:C0023467BeFreeWe found that the ABCC3 C-211T polymorphism and GSTM1 null genotype have adverse prognostic significance in AML.0.0121588022008ABCC31750634726CT
rs587776710NA2120ETV6umls:C0023467CLINVARNA0.2605735NAETV61211890994-GGG
rs587776806NA4869NPM1umls:C0023467CLINVARNA0.446321629NANPM15171410543-CATG,CCTG,CGTG,TCTG
rs587776848NA1050CEBPAumls:C0023467CLINVARNA0.553105144NACEBPA;CEBPA-AS11933302294GCGCGGG-
rs587776849NA1050CEBPAumls:C0023467CLINVARNA0.553105144NACEBPA;CEBPA-AS11933302204-CGGC
rs606231202NA3845KRASumls:C0023467CLINVARNA0.129087065NAKRAS1225245355-CCA
rs6087990240693266570SLC18A1umls:C0023467BeFreeThe 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.0.0002714422013DNMT3B2032762102TC
rs6087990240693267204TRIOumls:C0023467BeFreeThe 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.0.1202714422013DNMT3B2032762102TC
rs6119954240693267204TRIOumls:C0023467BeFreeThe 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.0.1202714422013DNMT3B2032776360GA
rs6119954240693266570SLC18A1umls:C0023467BeFreeThe 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.0.0002714422013DNMT3B2032776360GA
rs662229768395444PON1umls:C0023467BeFreeThe 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.0.0002714422012PON1795308134TC
rs703817204387856778STAT6umls:C0023467GAD[Polymorphisms in innate immunity genes and risk of childhood leukemia.]0.0023670322010STAT61257096045CT
rs7431545021725049861RUNX1umls:C0023467BeFreeWe 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.0.2608734642011RUNX12134859485CT
rs7431545020694842861RUNX1umls:C0023467BeFreeRUNX1, 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 RUNX1.0.2608734642010RUNX12134859485CT
rs762890562NA51428DDX41umls:C0023467CLINVARNA0.120542884NADDX415177515944-CATC
rs77375493168310573717JAK2umls:C0023467BeFreeJAK2(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.0.2847828232006JAK2;INSL695073770GA,T
rs77375493162474553717JAK2umls:C0023467BeFreeThe JAK2 V617F mutation in de novo acute myelogenous leukemias.0.2847828232006JAK2;INSL695073770GA,T
rs77375493225717582322FLT3umls:C0023467BeFreeAmong 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).0.562012JAK2;INSL695073770GA,T
rs77375493224118713717JAK2umls:C0023467BeFreeJAK2(V617F) and FLT3(ITD)-positive polycythemia vera cells and acute myeloid leukemia cells also produce ROS via MRC-cIII.0.2847828232012JAK2;INSL695073770GA,T
rs77375493173637313717JAK2umls:C0023467BeFreeIn 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.0.2847828232007JAK2;INSL695073770GA,T
rs77375493225717585048PAFAH1B1umls:C0023467BeFreeAmong 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).0.0393590712012JAK2;INSL695073770GA,T
rs77375493226125143717JAK2umls:C0023467BeFreeAs 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.0.2847828232012JAK2;INSL695073770GA,T
rs773754932257175883886PRSS27umls:C0023467BeFreeAmong 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).0.0040716282012JAK2;INSL695073770GA,T
rs77375493173637314597MVDumls:C0023467BeFreeIn 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.0.0024429772007JAK2;INSL695073770GA,T
rs77375493228188583717JAK2umls:C0023467BeFreeThere 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.0.2847828232012JAK2;INSL695073770GA,T
rs77375493244041891978EIF4EBP1umls:C0023467BeFreeProliferation 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.0.1216286512013JAK2;INSL695073770GA,T
rs7737549322571758861RUNX1umls:C0023467BeFreeAmong 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).0.2608734642012JAK2;INSL695073770GA,T
rs77375493165983062056EPOumls:C0023467BeFreeWe 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.0.0031813582006JAK2;INSL695073770GA,T
rs773754932257175823451SF3B1umls:C0023467BeFreeAmong 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).0.0404448392012JAK2;INSL695073770GA,T
rs7737549322571758171023ASXL1umls:C0023467BeFreeAmong 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).0.0511506242012JAK2;INSL695073770GA,T
rs773754932257175854790TET2umls:C0023467BeFreeAmong 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).0.0612375812012JAK2;INSL695073770GA,T
rs77375493165983066774STAT3umls:C0023467BeFreeThus, while JAK2 V617F is uncommon in de novo AML and probably does not occur in lymphoid malignancy, unexplained STAT3 activation is common in AML.0.1278817462006JAK2;INSL695073770GA,T
rs773754932440418983886PRSS27umls:C0023467BeFreePVTL-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.0.0040716282013JAK2;INSL695073770GA,T
rs77375493224118712322FLT3umls:C0023467BeFreeJAK2(V617F) and FLT3(ITD)-positive polycythemia vera cells and acute myeloid leukemia cells also produce ROS via MRC-cIII.0.562012JAK2;INSL695073770GA,T
rs77375493164080983717JAK2umls:C0023467BeFreeWe 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.0.2847828232006JAK2;INSL695073770GA,T
rs77375493201535053717JAK2umls:C0023467BeFreeA JAK2 V617F mutation was identified in one patient who had acute myeloid leukemia with concurrent mast cell disease.0.2847828232010JAK2;INSL695073770GA,T
rs77375493217863333717JAK2umls:C0023467BeFreeIn 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.0.2847828232011JAK2;INSL695073770GA,T
rs77375493225717587531YWHAEumls:C0023467BeFreeAmong 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).0.0393590712012JAK2;INSL695073770GA,T
rs77375493244041893717JAK2umls:C0023467BeFreeProliferation 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.0.2847828232013JAK2;INSL695073770GA,T
rs77375493220413743717JAK2umls:C0023467BeFreeThis report describes the first case of myeloid sarcoma with JAK2 V617F mutation and implication of its progression to AML.0.2847828232011JAK2;INSL695073770GA,T
rs77375493225717583717JAK2umls:C0023467BeFreeAmong 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).0.2847828232012JAK2;INSL695073770GA,T
rs77375493194744263717JAK2umls:C0023467BeFreeWe 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.0.2847828232009JAK2;INSL695073770GA,T
rs77375493165983063717JAK2umls:C0023467BeFreeJAK2 V617F is a rare finding in de novo acute myeloid leukemia, but STAT3 activation is common and remains unexplained.0.2847828232006JAK2;INSL695073770GA,T
rs797046041NA7015TERTumls:C0023467CLINVARNA0.124538567NATERT51282578GC
rs80338880158632063077HFEumls:C0023467BeFreeWe 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).0.0013572092005TFR2;LOC1053754287100633100GC
rs80338880158632067036TFR2umls:C0023467BeFreeWe 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).0.0008143262005TFR2;LOC1053754287100633100GC
rs854560229768395444PON1umls:C0023467BeFreeThe 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.0.0002714422012PON1795316772AC,G,N,T
rs861539237474017517XRCC3umls:C0023467BeFreeXRCC3 Thr241Met polymorphism and risk of acute myeloid leukemia in a Romanian population.0.0122684232013KLC1;XRCC314103699416GA
rs861539241979837517XRCC3umls:C0023467BeFreeThe XRCC3 Thr241Met polymorphism might be associated with risk of leukemia in AML.0.0122684232013KLC1;XRCC314103699416GA
rs861539123934477517XRCC3umls:C0023467GAD[The genotype distribution of the XRCC1 gene indicates a role for base excision repair in the development of therapy-related acute myeloblastic leukemia.]0.0122684232002KLC1;XRCC314103699416GA
rs9479248868763394IRF8umls:C0023467BeFreeIn 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).0.0016286512014PML1574036235AG
rs9479248868765371PMLumls:C0023467BeFreeIn 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).0.0119434422014PML1574036235AG
rs94792488687623092ARHGAP26umls:C0023467BeFreeIn 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).0.0016286512014PML1574036235AG
GWASdb Annotation(Total Genotypes:0)
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GWASdb Snp Trait(Total Genotypes:0)
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Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:28)
CUI ChemicalName ChemicalID CasRN DiseaseName DiseaseID DirectEvidence PubMedIDs
C0023467alitretinoinC1033035300/3/8leukemia, myeloid, acuteMESH:D015470therapeutic10536188
C0023467allopurinolD000493315-30-0leukemia, myeloid, acuteMESH:D015470therapeutic12708945
C0023467amsacrineD000677-leukemia, myeloid, acuteMESH:D015470therapeutic15148258
C0023467arsenic trioxideC0066321327-53-3leukemia, myeloid, acuteMESH:D015470therapeutic12931215
C0023467azacitidineD001374320-67-2leukemia, myeloid, acuteMESH:D015470therapeutic17596541
C0023467bortezomibD000069286-leukemia, myeloid, acuteMESH:D015470therapeutic18166786
C0023467busulfanD00206655-98-1leukemia, myeloid, acuteMESH:D015470therapeutic11069031
C0023467chloramphenicolD00270156-75-7leukemia, myeloid, acuteMESH:D015470marker/mechanism4726970
C0023467cladribineD0173384291-63-8leukemia, myeloid, acuteMESH:D015470therapeutic7948311
C0023467chloroquineD0027381954/5/7leukemia, myeloid, acuteMESH:D015470marker/mechanism273209
C0023467crizotinibC551994-leukemia, myeloid, acuteMESH:D015470therapeutic22683780
C0023467cyclophosphamideD00352050-18-0leukemia, myeloid, acuteMESH:D015470marker/mechanism3352696
C0023467decitabineC0143472353-33-5leukemia, myeloid, acuteMESH:D015470therapeutic14604977
C0023467calcitriolD00211732222-06-3leukemia, myeloid, acuteMESH:D015470therapeutic2416438
C0023467hydroxyureaD006918127-07-1leukemia, myeloid, acuteMESH:D015470therapeutic12708945
C0023467ifosfamideD0070693778-73-2leukemia, myeloid, acuteMESH:D015470marker/mechanism16985182
C0023467indomethacinD00721353-86-1leukemia, myeloid, acuteMESH:D015470therapeutic18360721
C0023467medroxyprogesterone acetateD01725871-58-9leukemia, myeloid, acuteMESH:D015470therapeutic19158949
C0023467methotrexateD0087271959/5/2leukemia, myeloid, acuteMESH:D015470therapeutic1058041
C0023467mitoxantroneD00894265271-80-9leukemia, myeloid, acuteMESH:D015470therapeutic10813714
C0023467paclitaxelD017239-leukemia, myeloid, acuteMESH:D015470therapeutic9766754
C0023467ponatinibC545373-leukemia, myeloid, acuteMESH:D015470therapeutic21482694
C0023467sorafenibC471405-leukemia, myeloid, acuteMESH:D015470therapeutic18200035
C0023467thalidomideD01379250-35-1leukemia, myeloid, acuteMESH:D015470therapeutic18720364
C0023467tretinoinD014212302-79-4leukemia, myeloid, acuteMESH:D015470therapeutic16294345
C0023467troglitazoneC05769397322-87-7leukemia, myeloid, acuteMESH:D015470therapeutic10536188
C0023467valproic acidD01463599-66-1leukemia, myeloid, acuteMESH:D015470therapeutic16294345
C0023467vincristineD014750-leukemia, myeloid, acuteMESH:D015470therapeutic4294312
FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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