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Pediatric Disease Annotations & Medicines



   leukemia, acute lymphoblastic
  

Disease ID 1630
Disease leukemia, acute lymphoblastic
Definition
A neoplasm characterized by abnormalities of the lymphoid cell precursors leading to excessive lymphoblasts in the marrow and other organs. It is the most common cancer in children and accounts for the vast majority of all childhood leukemias.
Synonym
acute lymphoblastic leukaemia, precursor-cell type
acute lymphoblastic leukemia, precursor-cell type
leukemia, acute lymphoid
leukemia, lymphoblastic
leukemia, lymphoid, acute
lymphoblastic leukemia, acute
lymphocytic leukemia, acute
lymphoma, lymphoblastic
precursor cell lymphoblastic leukaemia
precursor cell lymphoblastic leukaemia, not phenotyped
precursor cell lymphoblastic leukemia (morphologic abnormality)
precursor cell lymphoblastic leukemia lymphoma
precursor cell lymphoblastic leukemia, no icd-o subtype (morphologic abnormality)
precursor cell lymphoblastic leukemia, not phenotyped
precursor cell lymphoblastic leukemia-lymphoma
precursor cell lymphoblastic leukemia-lymphoma [disease/finding]
OMIM
UMLS
C1961102
MeSH
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:41)
ABCB1  |  5243  |  CTD_human
NQO1  |  1728  |  CTD_human
BCR  |  613  |  CTD_human
TP53  |  7157  |  CTD_human
TCF3  |  6929  |  CTD_human
EPHX1  |  2052  |  CTD_human
CASP8  |  841  |  CTD_human
IDH1  |  3417  |  CTD_human
RUNX1  |  861  |  CTD_human
IKZF3  |  22806  |  CTD_human
CYP1B1  |  1545  |  CTD_human
ABL1  |  25  |  CTD_human
MTHFR  |  4524  |  CTD_human
KMT2A  |  4297  |  CTD_human
CDKN2A  |  1029  |  CTD_human;GWASCAT
ARID5B  |  84159  |  CTD_human;GWASCAT
CDK6  |  1021  |  CTD_human
MTRR  |  4552  |  CTD_human
VPREB1  |  7441  |  CTD_human
ETV6  |  2120  |  CTD_human
RB1  |  5925  |  CTD_human
SLC19A1  |  6573  |  CTD_human
ARNT  |  405  |  CTD_human
P2RY8  |  286530  |  CTD_human
GATA3  |  2625  |  GWASCAT
PAX5  |  5079  |  CTD_human;UNIPROT
NAT2  |  10  |  CTD_human
HOXD4  |  3233  |  CTD_human
NT5C2  |  22978  |  CTD_human
HCK  |  3055  |  CTD_human
IKZF2  |  22807  |  CTD_human
IKZF1  |  10320  |  CTD_human;GWASCAT
PAG1  |  55824  |  CTD_human
XRCC1  |  7515  |  CTD_human
CYP2C8  |  1558  |  CTD_human
CYP1A2  |  1544  |  CTD_human
PIP4K2A  |  5305  |  GWASCAT
CEBPE  |  1053  |  CTD_human;GWASCAT
PRDM14  |  63978  |  CTD_human
HLF  |  3131  |  CTD_human
CRLF2  |  64109  |  CTD_human
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:113)
5243  |  ABCB1  |  infer
595  |  CCND1  |  infer
2322  |  FLT3  |  infer
3115  |  HLA-DPB1  |  infer
5551  |  PRF1  |  infer
7298  |  TYMS  |  infer
10257  |  ABCC4  |  infer
80332  |  ADAM33  |  infer
154  |  ADRB2  |  infer
84159  |  ARID5B  |  infer
940  |  CD28  |  infer
958  |  CD40  |  infer
941  |  CD80  |  infer
1029  |  CDKN2A  |  infer
1030  |  CDKN2B  |  infer
1053  |  CEBPE  |  infer
1394  |  CRHR1  |  infer
55790  |  CSGALNACT1  |  infer
1493  |  CTLA4  |  infer
1543  |  CYP1A1  |  infer
1565  |  CYP2D6  |  infer
1571  |  CYP2E1  |  infer
1576  |  CYP3A4  |  infer
1577  |  CYP3A5  |  infer
1616  |  DAXX  |  infer
780  |  DDR1  |  infer
1607  |  DGKB  |  infer
1719  |  DHFR  |  infer
9844  |  ELMO1  |  infer
2052  |  EPHX1  |  infer
2068  |  ERCC2  |  infer
2120  |  ETV6  |  infer
2212  |  FCGR2A  |  infer
2625  |  GATA3  |  infer
8836  |  GGH  |  infer
2944  |  GSTM1  |  infer
9446  |  GSTO1  |  infer
119391  |  GSTO2  |  infer
2950  |  GSTP1  |  infer
2952  |  GSTT1  |  infer
3105  |  HLA-A  |  infer
3106  |  HLA-B  |  infer
3123  |  HLA-DRB1  |  infer
10855  |  HPSE  |  infer
8870  |  IER3  |  infer
3586  |  IL10  |  infer
3592  |  IL12A  |  infer
3593  |  IL12B  |  infer
3594  |  IL12RB1  |  infer
3595  |  IL12RB2  |  infer
3600  |  IL15  |  infer
3558  |  IL2  |  infer
3559  |  IL2RA  |  infer
3565  |  IL4  |  infer
3566  |  IL4R  |  infer
3569  |  IL6  |  infer
3617  |  IMPG1  |  infer
3704  |  ITPA  |  infer
3716  |  JAK1  |  infer
3845  |  KRAS  |  infer
92255  |  LMBRD2  |  infer
4049  |  LTA  |  infer
84441  |  MAML2  |  infer
4193  |  MDM2  |  infer
4282  |  MIF  |  infer
4311  |  MME  |  infer
4353  |  MPO  |  infer
2206  |  MS4A2  |  infer
4507  |  MTAP  |  infer
4522  |  MTHFD1  |  infer
4524  |  MTHFR  |  infer
4548  |  MTR  |  infer
4552  |  MTRR  |  infer
4595  |  MUTYH  |  infer
10  |  NAT2  |  infer
8202  |  NCOA3  |  infer
4790  |  NFKB1  |  infer
4792  |  NFKBIA  |  infer
4793  |  NFKBIB  |  infer
4837  |  NNMT  |  infer
50508  |  NOX3  |  infer
1728  |  NQO1  |  infer
2908  |  NR3C1  |  infer
4893  |  NRAS  |  infer
4968  |  OGG1  |  infer
79476  |  OR5AL2P  |  infer
51131  |  PHF11  |  infer
10196  |  PRMT3  |  infer
5743  |  PTGS2  |  infer
5781  |  PTPN11  |  infer
5795  |  PTPRJ  |  infer
5981  |  RFC1  |  infer
646255  |  RPL19P16  |  infer
861  |  RUNX1  |  infer
6470  |  SHMT1  |  infer
6573  |  SLC19A1  |  infer
28232  |  SLCO3A1  |  infer
6644  |  SRIP1  |  infer
338596  |  ST8SIA6  |  infer
6774  |  STAT3  |  infer
6775  |  STAT4  |  infer
6776  |  STAT5A  |  infer
6777  |  STAT5B  |  infer
6778  |  STAT6  |  infer
7040  |  TGFB1  |  infer
7046  |  TGFBR1  |  infer
7048  |  TGFBR2  |  infer
7157  |  TP53  |  infer
8626  |  TP63  |  infer
7172  |  TPMT  |  infer
7421  |  VDR  |  infer
7498  |  XDH  |  infer
7515  |  XRCC1  |  infer
Text Mined Gene(Waiting for update.)
Locus(Waiting for update.)
Disease ID 1630
Disease leukemia, acute lymphoblastic
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype(Waiting for update.)
Disease ID 1630
Disease leukemia, acute lymphoblastic
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:146)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs1045642128517035243ABCB1umls:C1961102BeFreeAnalysis of single nucleotide polymorphism C3435T of the multidrug resistance gene MDR1 in acute lymphoblastic leukemia.0.1598010612003ABCB1787509329AT,G
rs1045642232441455243ABCB1umls:C1961102BeFreeIs the MDR1 C3435T polymorphism responsible for oral mucositis in children with acute lymphoblastic leukemia?0.1598010612012ABCB1787509329AT,G
rs1045642193175995243ABCB1umls:C1961102BeFreeMDR1 C3435T polymorphism in Mexican children with acute lymphoblastic leukemia and in healthy individuals.0.1598010612008ABCB1787509329AT,G
rs104893636157764343233HOXD4umls:C1961102BeFreeThese comprised the germline c.242A>T (p.Glu81Val) missense mutation of HOXD4, detected in two children diagnosed with acute lymphoblastic leukemia (ALL).0.1202714422005HOXD3;HOXD42176151875AC,T
rs10508343191764412625GATA3umls:C1961102GAD[Host genetic variations are associated with treatment response for childhood ALL, with polymorphisms related to leukemia cell biology and host drug disposition associated with lower risk of residual disease.]0.1247340642009NA108108750CA
rs105083431917644179783SUGCTumls:C1961102GAD[Host genetic variations are associated with treatment response for childhood ALL, with polymorphisms related to leukemia cell biology and host drug disposition associated with lower risk of residual disease.]0.0023670322009NA108108750CA
rs1051266228389482346FOLH1umls:C1961102BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.0002714422012SLC19A12145537880TC
rs1051266228389486470SHMT1umls:C1961102BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.009739572012SLC19A12145537880TC
rs1051266184585676573SLC19A1umls:C1961102BeFreeWe investigated preliminarily whether methylenetetrahydrofolate reductase (MTHFR) 677C/T or reduced folate carrier 1 (RFC1) 80G/A polymorphisms were associated with toxicities during maintenance chemotherapy with mercaptopurine (6MP) and methotrexate (MTX) in children with acute lymphoblastic leukemia or lymphoblastic lymphoma.0.1320828582008SLC19A12145537880TC
rs1051266228389484524MTHFRumls:C1961102BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.2320996622012SLC19A12145537880TC
rs1051266184585674524MTHFRumls:C1961102BeFreeWe investigated preliminarily whether methylenetetrahydrofolate reductase (MTHFR) 677C/T or reduced folate carrier 1 (RFC1) 80G/A polymorphisms were associated with toxicities during maintenance chemotherapy with mercaptopurine (6MP) and methotrexate (MTX) in children with acute lymphoblastic leukemia or lymphoblastic lymphoma.0.2320996622008SLC19A12145537880TC
rs1051266228389487298TYMSumls:C1961102BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.0220079932012SLC19A12145537880TC
rs1051266190203095981RFC1umls:C1961102GAD[For the first time, we associate the RFC1 80G>A and NNMT IVS -151C>T variants to an increased ALL susceptibility.]0.0151023942009SLC19A12145537880TC
rs1051266228389486573SLC19A1umls:C1961102BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.1320828582012SLC19A12145537880TC
rs1051266229146006573SLC19A1umls:C1961102BeFreeThis study evaluated the effect of the G80A polymorphism in the RFC1 gene on survival and risk of relapse of acute lymphoblastic leukemia.0.1320828582012SLC19A12145537880TC
rs108219362005435084159ARID5Bumls:C1961102GAD[ARID5B SNP rs10821936 is associated with risk of childhood acute lymphoblastic leukemia in blacks and contributes to racial differences in leukemia incidence.]0.2479154222010ARID5B1061963818CT
rs10821936245642281053CEBPEumls:C1961102BeFreeThe 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.0.2434527992014ARID5B1061963818CT
rs10828317239960885305PIP4K2Aumls:C1961102GWASCATVariation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype.0.1202714422014NANANANANA
rs1082831723996088861RUNX1umls:C1961102BeFreeThe rs10828317 association was shown to be specifically associated with hyperdiploid ALL, whereas the rs3824662-associated risk was confined to nonhyperdiploid non-TEL-AML1 + ALL.0.197162522014NANANANANA
rs10994982245642281053CEBPEumls:C1961102BeFreeThe 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.0.2434527992014ARID5B1061950345AG
rs111033557158632063077HFEumls:C1961102BeFreeWe 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).0.0086300582005HFE626090939GA
rs111033557158632067036TFR2umls:C1961102BeFreeWe 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).0.0002714422005HFE626090939GA
rs111033563158632063077HFEumls:C1961102BeFreeWe 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).0.0086300582005HFE626092916AC
rs111033563158632067036TFR2umls:C1961102BeFreeWe 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).0.0002714422005HFE626092916AC
rs11978267245642281053CEBPEumls:C1961102BeFreeThe 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.0.2434527992014IKZF1;LOC105375275750398606AG
rs119803792399608810320IKZF1umls:C1961102GWASCATVariation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype.0.2659462562014IKZF1750402283TC
rs12105972201892456936GCFC2umls:C1961102GAD[Genome-wide association study of childhood acute lymphoblastic leukemia in Korea.]0.0023670322010NA276421434GC
rs1219134592047144725ABL1umls:C1961102BeFreeThis cell line may provide a useful model for in vitro and in vivo cellular and molecular studies of BCR-ABL-positive ALL with T315I mutation.0.1841198712010ABL19130872896CT
rs1219134591699060325ABL1umls:C1961102BeFreeMK-0457, a novel kinase inhibitor, is active in patients with chronic myeloid leukemia or acute lymphocytic leukemia with the T315I BCR-ABL mutation.0.1841198712007ABL19130872896CT
rs1219134592258742225ABL1umls:C1961102BeFreeThe BCR-ABL T315I kinase domain mutation is insensitive to dasatinib therapy for Philadelphia-positive acute lymphoid leukemia (Ph + ALL) patients.0.1841198712012ABL19130872896CT
rs13181183492682068ERCC2umls:C1961102BeFreeIn this analysis, small associations of the XPD Lys 751 Gln polymorphism with cancer risk for esophageal cancer [for Lys/Gln versus Lys/Lys: odds ratio (OR), 1.34; 95% confidence interval (95% CI), 1.10-1.64; for Gln/Gln versus Lys/Lys: OR, 1.61; 95% CI, 1.16-2.25] and acute lymphoblastic leukemia (for Gln/Gln versus Lys/Lys: OR, 1.83; 95% CI, 1.21-2.75) are revealed.0.0079154222008ERCC2;KLC31945351661TA,G
rs140422742154626112908NR3C1umls:C1961102BeFreeTowards this aim we analyzed the CYP3A4-290A/G substitution and three NR3C1 polymorphisms (200G/A, 1220A/G and BclI RFLP) in 222 children with acute lymphoblastic leukemia (ALL) whose treatment protocols, among other components, contained corticosteroid drugs.0.008534252004CYP3A4799778046TC,G
rs140422742154626111576CYP3A4umls:C1961102BeFreeTowards this aim we analyzed the CYP3A4-290A/G substitution and three NR3C1 polymorphisms (200G/A, 1220A/G and BclI RFLP) in 222 children with acute lymphoblastic leukemia (ALL) whose treatment protocols, among other components, contained corticosteroid drugs.0.0037242412004CYP3A4799778046TC,G
rs146519482158632063077HFEumls:C1961102BeFreeWe 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).0.0086300582005HFE626091475GC,T
rs146519482158632067036TFR2umls:C1961102BeFreeWe 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).0.0002714422005HFE626091475GC,T
rs15691751917644179568C2orf47umls:C1961102GAD[Host genetic variations are associated with treatment response for childhood ALL, with polymorphisms related to leukemia cell biology and host drug disposition associated with lower risk of residual disease.]0.0023670322009LOC1053738342200157231TC
rs1695192567682950GSTP1umls:C1961102BeFreeRole of GSTM1 (Present/Null) and GSTP1 (Ile105Val) polymorphisms in susceptibility to acute lymphoblastic leukemia among the South Indian population.0.0384775282008GSTP11167585218AG
rs1695192567682944GSTM1umls:C1961102BeFreeRole of GSTM1 (Present/Null) and GSTP1 (Ile105Val) polymorphisms in susceptibility to acute lymphoblastic leukemia among the South Indian population.0.05377932008GSTP11167585218AG
rs17007695191764413600IL15umls:C1961102GAD[Host genetic variations are associated with treatment response for childhood ALL, with polymorphisms related to leukemia cell biology and host drug disposition associated with lower risk of residual disease.]0.0080012982009NA4141788570TC
rs1743322220438785714C1QCumls:C1961102GAD[Polymorphisms in innate immunity genes and risk of childhood leukemia.]0.0023670322010C1QB122652153GA
rs17505102220764648626TP63umls:C1961102GAD[Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.]0.0023670322012TP633189683987GC
rs1799945158632067036TFR2umls:C1961102BeFreeWe 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).0.0002714422005HFE626090951CG
rs1799945158632063077HFEumls:C1961102BeFreeWe 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).0.0086300582005HFE626090951CG
rs1800562158632067036TFR2umls:C1961102BeFreeWe 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).0.0002714422005HFE626092913GA
rs1800562158632063077HFEumls:C1961102BeFreeWe 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).0.0086300582005HFE626092913GA
rs1801131236528034524MTHFRumls:C1961102BeFreeMultiple Cox regression analyses revealed an association of minimal residual disease (hazard ratio 7.3; P < .001) and methylenetetrahydrofolate reductase rs1801131 (hazard ratio 3.1; P = .015) with event-free survival in the ALL-BFM 2000 study population.0.2320996622013MTHFR111794419TG
rs1801394190203094552MTRRumls:C1961102GAD[Polymorphisms in folate-related genes and risk of pediatric acute lymphoblastic leukemia.]0.1300110122009MTRR;FASTKD357870860AG
rs1801394242616784552MTRRumls:C1961102BeFreeThis meta-analysis suggests that MTRR A66G GG is associated with decreased risk of leukemia in a Caucasian population and in children, especially for ALL.0.1300110122015MTRR;FASTKD357870860AG
rs1805087216439524548MTRumls:C1961102BeFreeIn order to determine the influence of polymorphism in thymidylate synthase (TS 28-bp repeat) and methionine synthase (MS A2756G) genes on the susceptibility to acute lymphoblastic leukemia (ALL), 73 children with ALL and 128 age and sex matched unrelated healthy individuals from the Kermanshah Province of Iran were screened.0.0102824542012MTR1236885200AG
rs1805087216439527298TYMSumls:C1961102BeFreeIn order to determine the influence of polymorphism in thymidylate synthase (TS 28-bp repeat) and methionine synthase (MS A2756G) genes on the susceptibility to acute lymphoblastic leukemia (ALL), 73 children with ALL and 128 age and sex matched unrelated healthy individuals from the Kermanshah Province of Iran were screened.0.0220079932012MTR1236885200AG
rs1805087190203094548MTRumls:C1961102GAD[Polymorphisms in folate-related genes and risk of pediatric acute lymphoblastic leukemia.]0.0102824542009MTR1236885200AG
rs19668622067016483478ARHGAP24umls:C1961102BeFreeThis study suggested rs1966862 (ARHGAP24) and the other SNPs to be predictive factors for drug-induced hepatotoxicity during the maintenance phase in pediatric patients with ALL or LBL.0.0039956832010ARHGAP24485766908AG
rs1979277228389486573SLC19A1umls:C1961102BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.1320828582012SHMT11718328782GA
rs1979277190203096470SHMT1umls:C1961102GAD[Polymorphisms in folate-related genes and risk of pediatric acute lymphoblastic leukemia.]0.009739572009SHMT11718328782GA
rs1979277228389484524MTHFRumls:C1961102BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.2320996622012SHMT11718328782GA
rs1979277228389487298TYMSumls:C1961102BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.0220079932012SHMT11718328782GA
rs1979277228389482346FOLH1umls:C1961102BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.0002714422012SHMT11718328782GA
rs1979277228389486470SHMT1umls:C1961102BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.009739572012SHMT11718328782GA
rs2032582241425465243ABCB1umls:C1961102BeFreeIn the subgroup analysis, according to the type of leukemia, significant association was found between MDR1 G2677T polymorphism and myeloid leukemia but not lymphoblastic leukemia (TT vs. GG: OR = 0.66, 95% CI = 0.46-0.95, P = 0.026; TT vs.0.1598010612013ABCB1787531302AT,C
rs2079542207646428232SLCO3A1umls:C1961102GAD[Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.]0.0023670322012SLCO3A11592114143TC
rs2236225190203094522MTHFD1umls:C1961102GAD[Polymorphisms in folate-related genes and risk of pediatric acute lymphoblastic leukemia.]0.0073725382009MTHFD11464442127GA
rs2239633239960881053CEBPEumls:C1961102GWASCATVariation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype.0.2434527992014CEBPE1423119848GA
rs2239633251951211053CEBPEumls:C1961102BeFreeThe CEBPE rs2239633 polymorphism increased B cell ALL risk (OR = 1.29, 95 % CI 1.15-1.44, P < 0.01) and B hyperdiploid ALL risk (OR = 1.84, 95 % CI 1.40-2.43, P < 0.01).0.2434527992014CEBPE1423119848GA
rs2239633245642281053CEBPEumls:C1961102BeFreeThe 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.0.2434527992014CEBPE1423119848GA
rs2536219732402475MTORumls:C1961102BeFreeWe observed that the variant genotype TC of mTOR rs2536 was associated with a significantly decreased risk of childhood ALL (adjusted odds ratio [OR] = 0.67, 95% confidence interval [CI] = 0.46-0.96), and the association was more pronounced in high-risk ALL and T-phenotype ALL groups.0.0002714422012MTOR111106656TC
rs267607131100771647150TOP1umls:C1961102BeFreeIn previous studies, we isolated a mutant DNA topoisomerase I cDNA from a camptothecin (CPT)-resistant human T-lymphoblastic leukemia cell line, CPT-K5, and demonstrated that an amino acid change from Asp to Gly at residue 533 is responsible for the CPT resistance of the enzyme.0.0002714421999TOP1;PLCG1-AS12041114115AG
rs2677591917644192255LMBRD2umls:C1961102GAD[Host genetic variations are associated with treatment response for childhood ALL, with polymorphisms related to leukemia cell biology and host drug disposition associated with lower risk of residual disease.]0.0023670322009LMBRD2536137518AG
rs28934595158632063077HFEumls:C1961102BeFreeWe 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).0.0086300582005HFE626091354AC
rs28934595158632067036TFR2umls:C1961102BeFreeWe 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).0.0002714422005HFE626091354AC
rs28934889158632067036TFR2umls:C1961102BeFreeWe 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).0.0002714422005HFE626090921GA
rs28934889158632063077HFEumls:C1961102BeFreeWe 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).0.0086300582005HFE626090921GA
rs352293551917644150508NOX3umls:C1961102GAD[Host genetic variations are associated with treatment response for childhood ALL, with polymorphisms related to leukemia cell biology and host drug disposition associated with lower risk of residual disease.]0.0023670322009NA6155608667CT
rs35931219176441338596ST8SIA6umls:C1961102GAD[Host genetic variations are associated with treatment response for childhood ALL, with polymorphisms related to leukemia cell biology and host drug disposition associated with lower risk of residual disease.]0.0023670322009ST8SIA61017346144CT
rs35947132159213915551PRF1umls:C1961102BeFreeWe screened 100 children with acute lymphoblastic leukemia (ALL) to assess the incidence of single amino acid change A91V in perforin.0.0080012982005PRF11070600631GA
rs368005287154626112908NR3C1umls:C1961102BeFreeTowards this aim we analyzed the CYP3A4-290A/G substitution and three NR3C1 polymorphisms (200G/A, 1220A/G and BclI RFLP) in 222 children with acute lymphoblastic leukemia (ALL) whose treatment protocols, among other components, contained corticosteroid drugs.0.008534252004CYP3A4799762071CT
rs368005287154626111576CYP3A4umls:C1961102BeFreeTowards this aim we analyzed the CYP3A4-290A/G substitution and three NR3C1 polymorphisms (200G/A, 1220A/G and BclI RFLP) in 222 children with acute lymphoblastic leukemia (ALL) whose treatment protocols, among other components, contained corticosteroid drugs.0.0037242412004CYP3A4799762071CT
rs368087026228389484524MTHFRumls:C1961102BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.2320996622012SLC19A12145530890GA
rs368087026228389482346FOLH1umls:C1961102BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.0002714422012SLC19A12145530890GA
rs368087026184585676573SLC19A1umls:C1961102BeFreeWe investigated preliminarily whether methylenetetrahydrofolate reductase (MTHFR) 677C/T or reduced folate carrier 1 (RFC1) 80G/A polymorphisms were associated with toxicities during maintenance chemotherapy with mercaptopurine (6MP) and methotrexate (MTX) in children with acute lymphoblastic leukemia or lymphoblastic lymphoma.0.1320828582008SLC19A12145530890GA
rs368087026184585674524MTHFRumls:C1961102BeFreeWe investigated preliminarily whether methylenetetrahydrofolate reductase (MTHFR) 677C/T or reduced folate carrier 1 (RFC1) 80G/A polymorphisms were associated with toxicities during maintenance chemotherapy with mercaptopurine (6MP) and methotrexate (MTX) in children with acute lymphoblastic leukemia or lymphoblastic lymphoma.0.2320996622008SLC19A12145530890GA
rs368087026228389486470SHMT1umls:C1961102BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.009739572012SLC19A12145530890GA
rs368087026228389486573SLC19A1umls:C1961102BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.1320828582012SLC19A12145530890GA
rs368087026228389487298TYMSumls:C1961102BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.0220079932012SLC19A12145530890GA
rs368939818228389486573SLC19A1umls:C1961102BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.1320828582012FOLH11149156734GA
rs368939818228389487298TYMSumls:C1961102BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.0220079932012FOLH11149156734GA
rs368939818228389482346FOLH1umls:C1961102BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.0002714422012FOLH11149156734GA
rs368939818228389484524MTHFRumls:C1961102BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.2320996622012FOLH11149156734GA
rs368939818228389486470SHMT1umls:C1961102BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.009739572012FOLH11149156734GA
rs3731217204538391029CDKN2Aumls:C1961102BeFreeUsing data from a genome-wide association study of 907 individuals with childhood acute lymphoblastic leukemia (cases) and 2,398 controls and with validation in samples totaling 2,386 cases and 2,419 controls, we have shown that common variation at 9p21.3 (rs3731217, intron 1 of CDKN2A) influences acute lymphoblastic leukemia risk (odds ratio = 0.71, P = 3.01 x 10(-11)), irrespective of cell lineage.0.2747519482010CDKN2A921984662AC
rs3731217239960881029CDKN2Aumls:C1961102GWASCATVariation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype.0.2747519482014CDKN2A921984662AC
rs3776932201892454124MAN2A1umls:C1961102GAD[Genome-wide association study of childhood acute lymphoblastic leukemia in Korea.]0.0023670322010MAN2A15109850287TG
rs3794845204387854155MBPumls:C1961102GAD[Subgroup analysis showed that Ly96 rs78380171 and MBP rs3794845 were significantly associated with the risk of acute lymphoblastic leukemia (p(trend) < 0.001).]0.0026384742010MBP1877002561GC
rs3794845204387854155MBPumls:C1961102BeFreeSubgroup analysis showed that Ly96 rs78380171 and MBP rs3794845 were significantly associated with the risk of acute lymphoblastic leukemia (p(trend) < 0.001).0.0026384742010MBP1877002561GC
rs3824662254685672625GATA3umls:C1961102GWASCATA genome-wide association study of susceptibility to acute lymphoblastic leukemia in adolescents and young adults.0.1247340642015GATA3108062245CA
rs3824662239960882625GATA3umls:C1961102GWASCATVariation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype.0.1247340642014GATA3108062245CA
rs382466223996088861RUNX1umls:C1961102BeFreeThe rs10828317 association was shown to be specifically associated with hyperdiploid ALL, whereas the rs3824662-associated risk was confined to nonhyperdiploid non-TEL-AML1 + ALL.0.197162522014GATA3108062245CA
rs386514057228389482346FOLH1umls:C1961102BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.0002714422012NANANANANA
rs386514057228389486573SLC19A1umls:C1961102BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.1320828582012NANANANANA
rs386514057228389486470SHMT1umls:C1961102BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.009739572012NANANANANA
rs386514057229146006573SLC19A1umls:C1961102BeFreeThis study evaluated the effect of the G80A polymorphism in the RFC1 gene on survival and risk of relapse of acute lymphoblastic leukemia.0.1320828582012NANANANANA
rs386514057184585674524MTHFRumls:C1961102BeFreeWe investigated preliminarily whether methylenetetrahydrofolate reductase (MTHFR) 677C/T or reduced folate carrier 1 (RFC1) 80G/A polymorphisms were associated with toxicities during maintenance chemotherapy with mercaptopurine (6MP) and methotrexate (MTX) in children with acute lymphoblastic leukemia or lymphoblastic lymphoma.0.2320996622008NANANANANA
rs386514057228389487298TYMSumls:C1961102BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.0220079932012NANANANANA
rs386514057184585676573SLC19A1umls:C1961102BeFreeWe investigated preliminarily whether methylenetetrahydrofolate reductase (MTHFR) 677C/T or reduced folate carrier 1 (RFC1) 80G/A polymorphisms were associated with toxicities during maintenance chemotherapy with mercaptopurine (6MP) and methotrexate (MTX) in children with acute lymphoblastic leukemia or lymphoblastic lymphoma.0.1320828582008NANANANANA
rs386514057228389484524MTHFRumls:C1961102BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.2320996622012NANANANANA
rs386626619205388003418IDH2umls:C1961102BeFreeMoreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplasias (n = 96), a single case of acute lymphoblastic leukemia (n = 96), and none in chronic myeloid leukemias (n = 81).0.0010857672010NANANANANA
rs386626619205388003717JAK2umls:C1961102BeFreeMoreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplasias (n = 96), a single case of acute lymphoblastic leukemia (n = 96), and none in chronic myeloid leukemias (n = 81).0.0144399582010NANANANANA
rs386626619205388003417IDH1umls:C1961102BeFreeMoreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplasias (n = 96), a single case of acute lymphoblastic leukemia (n = 96), and none in chronic myeloid leukemias (n = 81).0.1210857672010NANANANANA
rs3942852220764645795PTPRJumls:C1961102GAD[Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.]0.0023670322012PTPRJ1148093537CT
rs397507444242377084524MTHFRumls:C1961102BeFreeThe effect of RFC G80A polymorphism in Cretan children with acute lymphoblastic leukemia and its interaction with MTHFR C677T and A1298C polymorphisms.0.2320996622013MTHFR111794407TG
rs397507444170230461728NQO1umls:C1961102BeFreeMost studies found a strong association between the polymorphisms MTHFR, C677T or A1298C, and NQO1*2 or *3 and the risk of acute lymphoblastic leukemia (ALL).0.1593915422006MTHFR111794407TG
rs397507444188047024524MTHFRumls:C1961102BeFreeCertain common polymorphisms within the MTHFR gene (C677T, A1298C) result in reduced enzymatic activity and have been associated with reduced risk for a variety of cancers such as acute lymphocytic leukemia, lung and colorectal cancer.0.2320996622008MTHFR111794407TG
rs397507444220173054524MTHFRumls:C1961102BeFreeThe aim of the present study was to determine the role of the two most common polymorphisms of the 5, 10-methylenetetrahydrofolate reductase (MTHFR) gene, MTHFR C677T and A1298C, and their interaction on the susceptibility to ALL.0.2320996622012MTHFR111794407TG
rs397507444214951604524MTHFRumls:C1961102BeFreeA meta-analysis of MTHFR C677T and A1298C polymorphisms and risk of acute lymphoblastic leukemia in children.0.2320996622012MTHFR111794407TG
rs397507444203675624524MTHFRumls:C1961102BeFreeWe conducted a case-control study in 95 north Indian children with acute lymphoblastic leukemia (ALL) and 255 controls, to investigate the role of MTHFR C677T and A1298C polymorphisms as risk factors in the development of ALL.0.2320996622010MTHFR111794407TG
rs397507444170230464524MTHFRumls:C1961102BeFreeMost studies found a strong association between the polymorphisms MTHFR, C677T or A1298C, and NQO1*2 or *3 and the risk of acute lymphoblastic leukemia (ALL).0.2320996622006MTHFR111794407TG
rs397507444193910364524MTHFRumls:C1961102BeFreeMethylenetetrahydrofolate reductase C677T and A1298C gene polymorphisms and therapy-related toxicity in children treated for acute lymphoblastic leukemia and non-Hodgkin lymphoma.0.2320996622009MTHFR111794407TG
rs397507520223151875781PTPN11umls:C1961102BeFreeOccurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139D.0.0088156242012PTPN1112112453279GC,T
rs41326012459798310320IKZF1umls:C1961102BeFreeSince recently conducted genome-wide association (GWA) studies revealed that the common low-penetrance susceptibility allele at 7p12.2 (IKZF1 gene) confers an increased risk of pediatric ALL, we investigated whether the risk allele at rs4132601 also coexists with well-established prognostic factors, among 508 Polish pediatric patients with newly diagnosed ALL.0.2659462562015IKZF1750402906TG
rs4145802460482810848PPP1R13Lumls:C1961102BeFreeCommon variations rs6966 (3' UTR of PPP1R13L, chr 19q13.32, P = 4.55 × 10(-9)) and rs414580 (intron 2 of MSR1, chr 8p22, P = 6.09 × 10(-8)) were significantly associated with ALL.0.0002714422014MSR1816177793TC,A
rs414580246048284481MSR1umls:C1961102BeFreeCommon variations rs6966 (3' UTR of PPP1R13L, chr 19q13.32, P = 4.55 × 10(-9)) and rs414580 (intron 2 of MSR1, chr 8p22, P = 6.09 × 10(-8)) were significantly associated with ALL.0.0002714422014MSR1816177793TC,A
rs41490562323366210599SLCO1B1umls:C1961102BeFreeThis replicates findings using different schedules of high-dose methotrexate in St Jude ALL treatment protocols; a combined meta-analysis yields a P value of 5.7 x 10(-19) for the association of methotrexate clearance with SLCO1B1 SNP rs4149056.0.0026384742013SLCO1B11221178615TC
rs45445694190203097298TYMSumls:C1961102GAD[Polymorphisms in folate-related genes and risk of pediatric acute lymphoblastic leukemia.]0.0220079932009NANANANANA
rs4723619191764419844ELMO1umls:C1961102GAD[Host genetic variations are associated with treatment response for childhood ALL, with polymorphisms related to leukemia cell biology and host drug disposition associated with lower risk of residual disease.]0.0023670322009ELMO1737226747TC
rs6021191259876554773NFATC2umls:C1961102BeFreeRNA-seq data available from 65 SJCRH ALL tumor samples and 52 Yoruba HapMap samples showed that samples carrying the rs6021191 variant had higher NFATC2 expression compared with noncarriers (P = 1.1 × 10(-3) and 0.03, respectively).0.0002714422015NFATC22051419700AT
rs6125048191764418202NCOA3umls:C1961102GAD[Host genetic variations are associated with treatment response for childhood ALL, with polymorphisms related to leukemia cell biology and host drug disposition associated with lower risk of residual disease.]0.0023670322009NCOA32047579861GT
rs61402642018924554363HAO1umls:C1961102GAD[Genome-wide association study of childhood acute lymphoblastic leukemia in Korea.]0.0023670322010NA207395707GA
rs61754966153382734683NBNumls:C1961102BeFreeFour children with acute lymphoblastic leukemia have been reported to be heterozygous for a germline and/or somatic missense mutation in NBS1, leading to the I171V substitution.0.0035386762004NBN889978293TC
rs694539190203094837NNMTumls:C1961102GAD[For the first time, we associate the RFC1 80G>A and NNMT IVS -151C>T variants to an increased ALL susceptibility.]0.0026384742009NA11114262697CT
rs69662460482810848PPP1R13Lumls:C1961102BeFreeCommon variations rs6966 (3' UTR of PPP1R13L, chr 19q13.32, P = 4.55 × 10(-9)) and rs414580 (intron 2 of MSR1, chr 8p22, P = 6.09 × 10(-8)) were significantly associated with ALL.0.0002714422014PPP1R13L1945379704TA
rs6966246048284481MSR1umls:C1961102BeFreeCommon variations rs6966 (3' UTR of PPP1R13L, chr 19q13.32, P = 4.55 × 10(-9)) and rs414580 (intron 2 of MSR1, chr 8p22, P = 6.09 × 10(-8)) were significantly associated with ALL.0.0002714422014PPP1R13L1945379704TA
rs6971925191764411607DGKBumls:C1961102GAD[Host genetic variations are associated with treatment response for childhood ALL, with polymorphisms related to leukemia cell biology and host drug disposition associated with lower risk of residual disease.]0.0023670322009DGKB714406292TC
rs703817204387856778STAT6umls:C1961102GAD[Polymorphisms in innate immunity genes and risk of childhood leukemia.]0.0047340642010STAT61257096045CT
rs70904452399608884159ARID5Bumls:C1961102GWASCATVariation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype.0.2479154222014ARID5B1061961417CT
rs71155781917644184441MAML2umls:C1961102GAD[Host genetic variations are associated with treatment response for childhood ALL, with polymorphisms related to leukemia cell biology and host drug disposition associated with lower risk of residual disease.]0.0023670322009MAML21196266936GA
rs71283111917644110196PRMT3umls:C1961102GAD[Host genetic variations are associated with treatment response for childhood ALL, with polymorphisms related to leukemia cell biology and host drug disposition associated with lower risk of residual disease.]0.0023670322009NA1120540973CT
rs71569602207646455668GPATCH2Lumls:C1961102GAD[Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.]0.0023670322012NA1476237008CG
rs72481843154626111576CYP3A4umls:C1961102BeFreeTowards this aim we analyzed the CYP3A4-290A/G substitution and three NR3C1 polymorphisms (200G/A, 1220A/G and BclI RFLP) in 222 children with acute lymphoblastic leukemia (ALL) whose treatment protocols, among other components, contained corticosteroid drugs.0.0037242412004NR3C15143300685CG
rs72481843154626112908NR3C1umls:C1961102BeFreeTowards this aim we analyzed the CYP3A4-290A/G substitution and three NR3C1 polymorphisms (200G/A, 1220A/G and BclI RFLP) in 222 children with acute lymphoblastic leukemia (ALL) whose treatment protocols, among other components, contained corticosteroid drugs.0.008534252004NR3C15143300685CG
rs77375493205388003417IDH1umls:C1961102BeFreeMoreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplasias (n = 96), a single case of acute lymphoblastic leukemia (n = 96), and none in chronic myeloid leukemias (n = 81).0.1210857672010JAK2;INSL695073770GA,T
rs77375493205388003418IDH2umls:C1961102BeFreeMoreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplasias (n = 96), a single case of acute lymphoblastic leukemia (n = 96), and none in chronic myeloid leukemias (n = 81).0.0010857672010JAK2;INSL695073770GA,T
rs77375493205388003717JAK2umls:C1961102BeFreeMoreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplasias (n = 96), a single case of acute lymphoblastic leukemia (n = 96), and none in chronic myeloid leukemias (n = 81).0.0144399582010JAK2;INSL695073770GA,T
rs7738636220764643617IMPG1umls:C1961102GAD[Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.]0.0023670322012LOC105377862677080091AC
rs78380171204387854155MBPumls:C1961102BeFreeSubgroup analysis showed that Ly96 rs78380171 and MBP rs3794845 were significantly associated with the risk of acute lymphoblastic leukemia (p(trend) < 0.001).0.0026384742010LOC101927518386720838AG
rs80338880158632063077HFEumls:C1961102BeFreeWe 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).0.0086300582005TFR2;LOC1053754287100633100GC
rs80338880158632067036TFR2umls:C1961102BeFreeWe 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).0.0002714422005TFR2;LOC1053754287100633100GC
rs9205902207646455790CSGALNACT1umls:C1961102GAD[Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.]0.0023670322012NA819793650TC
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:26)
CUI ChemicalName ChemicalID CasRN DiseaseName DiseaseID DirectEvidence PubMedIDs
C1961102allopurinolD000493315-30-0precursor cell lymphoblastic leukemia-lymphomaMESH:D054198therapeutic6936839
C1961102amsacrineD000677-precursor cell lymphoblastic leukemia-lymphomaMESH:D054198therapeutic1873770
C1961102arsenic trioxideC0066321327-53-3precursor cell lymphoblastic leukemia-lymphomaMESH:D054198therapeutic19781537
C1961102busulfanD00206655-98-1precursor cell lymphoblastic leukemia-lymphomaMESH:D054198therapeutic11069031
C1961102carmustineD002330154-93-8precursor cell lymphoblastic leukemia-lymphomaMESH:D054198therapeutic17264526
C1961102chloramphenicolD00270156-75-7precursor cell lymphoblastic leukemia-lymphomaMESH:D054198marker/mechanism6071896
C1961102clofarabineC068329123318-82-1precursor cell lymphoblastic leukemia-lymphomaMESH:D054198therapeutic20057324
C1961102cyclophosphamideD00352050-18-0precursor cell lymphoblastic leukemia-lymphomaMESH:D054198therapeutic10457124
C1961102cyclosporineD01657259865-13-3precursor cell lymphoblastic leukemia-lymphomaMESH:D054198therapeutic17264526
C1961102decitabineC0143472353-33-5precursor cell lymphoblastic leukemia-lymphomaMESH:D054198therapeutic14604977
C1961102leucovorinD0029551958/5/9precursor cell lymphoblastic leukemia-lymphomaMESH:D054198therapeutic1519928
C1961102imatinib mesylateD000068877-precursor cell lymphoblastic leukemia-lymphomaMESH:D054198therapeutic12476293
C1961102melphalanD008558148-82-3precursor cell lymphoblastic leukemia-lymphomaMESH:D054198therapeutic17264526
C1961102methotrexateD0087271959/5/2precursor cell lymphoblastic leukemia-lymphomaMESH:D054198therapeutic10457124
C1961102mitoxantroneD00894265271-80-9precursor cell lymphoblastic leukemia-lymphomaMESH:D054198therapeutic2214347
C1961102paclitaxelD017239-precursor cell lymphoblastic leukemia-lymphomaMESH:D054198therapeutic19781537
C1961102panobinostatC496932-precursor cell lymphoblastic leukemia-lymphomaMESH:D054198therapeutic23681230
C1961102pegaspargaseC042705-precursor cell lymphoblastic leukemia-lymphomaMESH:D054198therapeutic17356399
C1961102sirolimusD02012353123-88-9precursor cell lymphoblastic leukemia-lymphomaMESH:D054198therapeutic21898527
C1961102temsirolimusC401859-precursor cell lymphoblastic leukemia-lymphomaMESH:D054198therapeutic16195324
C1961102teniposideD01371329767-20-2precursor cell lymphoblastic leukemia-lymphomaMESH:D054198therapeutic3111251
C1961102thalidomideD01379250-35-1precursor cell lymphoblastic leukemia-lymphomaMESH:D054198therapeutic17031469
C1961102tretinoinD014212302-79-4precursor cell lymphoblastic leukemia-lymphomaMESH:D054198therapeutic8695172
C1961102troglitazoneC05769397322-87-7precursor cell lymphoblastic leukemia-lymphomaMESH:D054198therapeutic16809887
C1961102vincristineD014750-precursor cell lymphoblastic leukemia-lymphomaMESH:D054198therapeutic10457124
C1961102vindesineD01475153643-48-4precursor cell lymphoblastic leukemia-lymphomaMESH:D054198therapeutic19428104
FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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