acute lymphocytic leukemia |
Disease ID | 459 |
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Disease | acute lymphocytic leukemia |
Manually Symptom | UMLS | Name(Total Manually Symptoms:35) C2613439 | extramedullary hematopoiesis C2363910 | fungal retinitis C1801959 | histiocytic medullary reticulosis C1704275 | pyomyositis C1540912 | hypereosinophilic syndrome C1096248 | alternaria infection C1096022 | trichosporon infection C0948976 | leukemia cutis C0877445 | candidemia C0598392 | lennox syndrome C0519077 | schizocytic hemolytic anemia C0406650 | linear iga bullous dermatosis C0343957 | cutaneous mucormycosis C0276253 | cytomegalovirus pneumonia C0275565 | disseminated actinomycosis C0270612 | leukoencephalopathy C0240805 | prodrome C0206186 | oral hairy leukoplakia C0078048 | varicella C0043117 | idiopathic thrombocytopenic purpura C0039128 | syphilis C0037284 | skin lesions C0036690 | septicemia C0034067 | emphysema C0032285 | pneumonia C0027121 | myositis C0024441 | macular hole C0024314 | lymphoproliferative disease C0024291 | hemophagocytic syndrome C0023479 | acute myelomonocytic leukemia C0021345 | infectious mononucleosis C0019655 | histoplasmosis C0019360 | zoster C0014236 | endophthalmitis C0008049 | varicella infection |
Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:34) C1839611 | n syndrome | 7 C0009450 | infection | 6 C0014457 | eosinophilia | 4 C0030305 | pancreatitis | 4 C0948976 | leukemia cutis | 3 C0036690 | sepsis | 3 C0040053 | thrombosis | 3 C0036690 | septicemia | 2 C1568868 | oral mucositis | 2 C0032285 | pneumonia | 2 C1841971 | glucocorticoid resistance | 2 C0796095 | c syndrome | 2 C0026934 | pleuropneumonia | 1 C0019618 | histiocytosis | 1 C0001125 | lactic acidosis | 1 C0004610 | bacteraemia | 1 C0343957 | cutaneous mucormycosis | 1 C0085082 | fungemia | 1 C0025289 | meningitis | 1 C0887846 | aleukemic leukemia cutis | 1 C0005779 | coagulopathy | 1 C0008625 | chromosomal abnormality | 1 C0026946 | fungal infection | 1 C2062593 | mesial temporal sclerosis | 1 C0004030 | aspergillosis | 1 C0021311 | infections | 1 C0085584 | encephalopathy | 1 C0020598 | hypoglycemia | 1 C0026986 | myelodysplastic syndrome | 1 C1282208 | preseptal cellulitis | 1 C0041364 | tumor lysis syndrome | 1 C0007959 | charcot-marie-tooth disease | 1 C0040038 | thromboembolism | 1 C0000737 | abdominal pain | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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(Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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(Waiting for update.) |
All Snps(Total Genotypes:114) | |||||||||||||
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snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs1045642 | 19317599 | 5243 | ABCB1 | umls:C0023449 | BeFree | MDR1 C3435T polymorphism in Mexican children with acute lymphoblastic leukemia and in healthy individuals. | 0.009500466 | 2008 | ABCB1 | 7 | 87509329 | A | T,G |
rs1045642 | 23244145 | 5243 | ABCB1 | umls:C0023449 | BeFree | Is the MDR1 C3435T polymorphism responsible for oral mucositis in children with acute lymphoblastic leukemia? | 0.009500466 | 2012 | ABCB1 | 7 | 87509329 | A | T,G |
rs1045642 | 12851703 | 5243 | ABCB1 | umls:C0023449 | BeFree | Analysis of single nucleotide polymorphism C3435T of the multidrug resistance gene MDR1 in acute lymphoblastic leukemia. | 0.009500466 | 2003 | ABCB1 | 7 | 87509329 | A | T,G |
rs1045642 | 18243305 | 9429 | ABCG2 | umls:C0023449 | BeFree | To investigate their possible roles in disease susceptibility and some disease characteristics we genotyped C3435T and G2677T/A polymorphisms in multidrug resistance-1 (MDR1) gene with a single base extension method and the G34A and C421A polymorphisms of the breast cancer resistance protein gene with an allelic discrimination system in 396 children with acute lymphoblastic leukaemia (ALL) and 192 control patients. | 0.002171535 | 2008 | ABCB1 | 7 | 87509329 | A | T,G |
rs104893636 | 15776434 | 3233 | HOXD4 | umls:C0023449 | BeFree | These comprised the germline c.242A>T (p.Glu81Val) missense mutation of HOXD4, detected in two children diagnosed with acute lymphoblastic leukemia (ALL). | 0.000271442 | 2005 | HOXD3;HOXD4 | 2 | 176151875 | A | C,T |
rs1051266 | 18458567 | 6573 | SLC19A1 | umls:C0023449 | BeFree | We 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. | 0.002714419 | 2008 | SLC19A1 | 21 | 45537880 | T | C |
rs1051266 | 18458567 | 4524 | MTHFR | umls:C0023449 | BeFree | We 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. | 0.01601507 | 2008 | SLC19A1 | 21 | 45537880 | T | C |
rs1051266 | 22838948 | 6573 | SLC19A1 | umls:C0023449 | BeFree | Children 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. | 0.002714419 | 2012 | SLC19A1 | 21 | 45537880 | T | C |
rs1051266 | 22838948 | 7298 | TYMS | umls:C0023449 | BeFree | Children 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. | 0.003528744 | 2012 | SLC19A1 | 21 | 45537880 | T | C |
rs1051266 | 22838948 | 6470 | SHMT1 | umls:C0023449 | BeFree | Children 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. | 0.000542884 | 2012 | SLC19A1 | 21 | 45537880 | T | C |
rs1051266 | 22838948 | 4524 | MTHFR | umls:C0023449 | BeFree | Children 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. | 0.01601507 | 2012 | SLC19A1 | 21 | 45537880 | T | C |
rs1051266 | 22914600 | 6573 | SLC19A1 | umls:C0023449 | BeFree | This study evaluated the effect of the G80A polymorphism in the RFC1 gene on survival and risk of relapse of acute lymphoblastic leukemia. | 0.002714419 | 2012 | SLC19A1 | 21 | 45537880 | T | C |
rs1051266 | 22838948 | 2346 | FOLH1 | umls:C0023449 | BeFree | Children 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. | 0.000271442 | 2012 | SLC19A1 | 21 | 45537880 | T | C |
rs10821936 | 24564228 | 1053 | CEBPE | umls:C0023449 | BeFree | The SNPs (IKZF1 rs11978267, ARID5B rs10821936 and rs10994982, CEBPE rs2239633) were genotyped in 265 cases [169 acute lymphoblastic leukemia (ALL) and 96 acute myeloid leukaemia (AML)] and 505 controls by Taqman allelic discrimination assay. | 0.001085767 | 2014 | ARID5B | 10 | 61963818 | C | T |
rs10828317 | 23996088 | 861 | RUNX1 | umls:C0023449 | BeFree | The rs10828317 association was shown to be specifically associated with hyperdiploid ALL, whereas the rs3824662-associated risk was confined to nonhyperdiploid non-TEL-AML1 + ALL. | 0.044516467 | 2014 | NA | NA | NA | NA | NA |
rs10994982 | 24564228 | 1053 | CEBPE | umls:C0023449 | BeFree | The SNPs (IKZF1 rs11978267, ARID5B rs10821936 and rs10994982, CEBPE rs2239633) were genotyped in 265 cases [169 acute lymphoblastic leukemia (ALL) and 96 acute myeloid leukaemia (AML)] and 505 controls by Taqman allelic discrimination assay. | 0.001085767 | 2014 | ARID5B | 10 | 61950345 | A | G |
rs111033557 | 15863206 | 7036 | TFR2 | umls:C0023449 | BeFree | We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C). | 0.000271442 | 2005 | HFE | 6 | 26090939 | G | A |
rs111033557 | 15863206 | 3077 | HFE | umls:C0023449 | BeFree | We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C). | 0.000814326 | 2005 | HFE | 6 | 26090939 | G | A |
rs111033563 | 15863206 | 7036 | TFR2 | umls:C0023449 | BeFree | We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C). | 0.000271442 | 2005 | HFE | 6 | 26092916 | A | C |
rs111033563 | 15863206 | 3077 | HFE | umls:C0023449 | BeFree | We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C). | 0.000814326 | 2005 | HFE | 6 | 26092916 | A | C |
rs11978267 | 24564228 | 1053 | CEBPE | umls:C0023449 | BeFree | The SNPs (IKZF1 rs11978267, ARID5B rs10821936 and rs10994982, CEBPE rs2239633) were genotyped in 265 cases [169 acute lymphoblastic leukemia (ALL) and 96 acute myeloid leukaemia (AML)] and 505 controls by Taqman allelic discrimination assay. | 0.001085767 | 2014 | IKZF1;LOC105375275 | 7 | 50398606 | A | G |
rs121909646 | NA | 2322 | FLT3 | umls:C0023449 | CLINVAR | NA | 0.130314791 | NA | FLT3 | 13 | 28018504 | T | A |
rs121913459 | 22587422 | 25 | ABL1 | umls:C0023449 | BeFree | The BCR-ABL T315I kinase domain mutation is insensitive to dasatinib therapy for Philadelphia-positive acute lymphoid leukemia (Ph + ALL) patients. | 0.06378884 | 2012 | ABL1 | 9 | 130872896 | C | T |
rs121913459 | 20471447 | 25 | ABL1 | umls:C0023449 | BeFree | This 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. | 0.06378884 | 2010 | ABL1 | 9 | 130872896 | C | T |
rs121913459 | 16990603 | 25 | ABL1 | umls:C0023449 | BeFree | MK-0457, a novel kinase inhibitor, is active in patients with chronic myeloid leukemia or acute lymphocytic leukemia with the T315I BCR-ABL mutation. | 0.06378884 | 2007 | ABL1 | 9 | 130872896 | C | T |
rs121913488 | NA | 2322 | FLT3 | umls:C0023449 | CLINVAR | NA | 0.130314791 | NA | FLT3 | 13 | 28018505 | C | T,G,A |
rs13181 | 18349268 | 2068 | ERCC2 | umls:C0023449 | BeFree | In 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. | 0.000814326 | 2008 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
rs140422742 | 15462611 | 1576 | CYP3A4 | umls:C0023449 | BeFree | Towards 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. | 0.001628651 | 2004 | CYP3A4 | 7 | 99778046 | T | C,G |
rs140422742 | 15462611 | 2908 | NR3C1 | umls:C0023449 | BeFree | Towards 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. | 0.004071628 | 2004 | CYP3A4 | 7 | 99778046 | T | C,G |
rs146519482 | 15863206 | 7036 | TFR2 | umls:C0023449 | BeFree | We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C). | 0.000271442 | 2005 | HFE | 6 | 26091475 | G | C,T |
rs146519482 | 15863206 | 3077 | HFE | umls:C0023449 | BeFree | We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C). | 0.000814326 | 2005 | HFE | 6 | 26091475 | G | C,T |
rs1695 | 19256768 | 2950 | GSTP1 | umls:C0023449 | BeFree | Role of GSTM1 (Present/Null) and GSTP1 (Ile105Val) polymorphisms in susceptibility to acute lymphoblastic leukemia among the South Indian population. | 0.002714419 | 2008 | GSTP1 | 11 | 67585218 | A | G |
rs1695 | 19256768 | 2944 | GSTM1 | umls:C0023449 | BeFree | Role of GSTM1 (Present/Null) and GSTP1 (Ile105Val) polymorphisms in susceptibility to acute lymphoblastic leukemia among the South Indian population. | 0.005971721 | 2008 | GSTP1 | 11 | 67585218 | A | G |
rs1799945 | 15863206 | 7036 | TFR2 | umls:C0023449 | BeFree | We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C). | 0.000271442 | 2005 | HFE | 6 | 26090951 | C | G |
rs1799945 | 15863206 | 3077 | HFE | umls:C0023449 | BeFree | We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C). | 0.000814326 | 2005 | HFE | 6 | 26090951 | C | G |
rs1800562 | 15863206 | 3077 | HFE | umls:C0023449 | BeFree | We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C). | 0.000814326 | 2005 | HFE | 6 | 26092913 | G | A |
rs1800562 | 15863206 | 7036 | TFR2 | umls:C0023449 | BeFree | We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C). | 0.000271442 | 2005 | HFE | 6 | 26092913 | G | A |
rs1801131 | 23652803 | 4524 | MTHFR | umls:C0023449 | BeFree | Multiple 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. | 0.01601507 | 2013 | MTHFR | 1 | 11794419 | T | G |
rs1801394 | 24261678 | 4552 | MTRR | umls:C0023449 | BeFree | This meta-analysis suggests that MTRR A66G GG is associated with decreased risk of leukemia in a Caucasian population and in children, especially for ALL. | 0.000814326 | 2015 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
rs1805087 | 21643952 | 4548 | MTR | umls:C0023449 | BeFree | In 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. | 0.001085767 | 2012 | MTR | 1 | 236885200 | A | G |
rs1805087 | 21643952 | 7298 | TYMS | umls:C0023449 | BeFree | In 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. | 0.003528744 | 2012 | MTR | 1 | 236885200 | A | G |
rs1966862 | 20670164 | 83478 | ARHGAP24 | umls:C0023449 | BeFree | This 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. | 0.001900093 | 2010 | ARHGAP24 | 4 | 85766908 | A | G |
rs1979277 | 22838948 | 6470 | SHMT1 | umls:C0023449 | BeFree | Children 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. | 0.000542884 | 2012 | SHMT1 | 17 | 18328782 | G | A |
rs1979277 | 22838948 | 2346 | FOLH1 | umls:C0023449 | BeFree | Children 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. | 0.000271442 | 2012 | SHMT1 | 17 | 18328782 | G | A |
rs1979277 | 22838948 | 7298 | TYMS | umls:C0023449 | BeFree | Children 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. | 0.003528744 | 2012 | SHMT1 | 17 | 18328782 | G | A |
rs1979277 | 22838948 | 6573 | SLC19A1 | umls:C0023449 | BeFree | Children 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. | 0.002714419 | 2012 | SHMT1 | 17 | 18328782 | G | A |
rs1979277 | 22838948 | 4524 | MTHFR | umls:C0023449 | BeFree | Children 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. | 0.01601507 | 2012 | SHMT1 | 17 | 18328782 | G | A |
rs2032582 | 18243305 | 9429 | ABCG2 | umls:C0023449 | BeFree | To investigate their possible roles in disease susceptibility and some disease characteristics we genotyped C3435T and G2677T/A polymorphisms in multidrug resistance-1 (MDR1) gene with a single base extension method and the G34A and C421A polymorphisms of the breast cancer resistance protein gene with an allelic discrimination system in 396 children with acute lymphoblastic leukaemia (ALL) and 192 control patients. | 0.002171535 | 2008 | ABCB1 | 7 | 87531302 | A | T,C |
rs2032582 | 24142546 | 5243 | ABCB1 | umls:C0023449 | BeFree | In 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. | 0.009500466 | 2013 | ABCB1 | 7 | 87531302 | A | T,C |
rs2231137 | 18243305 | 9429 | ABCG2 | umls:C0023449 | BeFree | To investigate their possible roles in disease susceptibility and some disease characteristics we genotyped C3435T and G2677T/A polymorphisms in multidrug resistance-1 (MDR1) gene with a single base extension method and the G34A and C421A polymorphisms of the breast cancer resistance protein gene with an allelic discrimination system in 396 children with acute lymphoblastic leukaemia (ALL) and 192 control patients. | 0.002171535 | 2008 | ABCG2 | 4 | 88139962 | C | T |
rs2231142 | 18243305 | 9429 | ABCG2 | umls:C0023449 | BeFree | To investigate their possible roles in disease susceptibility and some disease characteristics we genotyped C3435T and G2677T/A polymorphisms in multidrug resistance-1 (MDR1) gene with a single base extension method and the G34A and C421A polymorphisms of the breast cancer resistance protein gene with an allelic discrimination system in 396 children with acute lymphoblastic leukaemia (ALL) and 192 control patients. | 0.002171535 | 2008 | ABCG2 | 4 | 88131171 | G | T |
rs2239633 | 25195121 | 1053 | CEBPE | umls:C0023449 | BeFree | The 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). | 0.001085767 | 2014 | CEBPE | 14 | 23119848 | G | A |
rs2239633 | 24564228 | 1053 | CEBPE | umls:C0023449 | BeFree | The SNPs (IKZF1 rs11978267, ARID5B rs10821936 and rs10994982, CEBPE rs2239633) were genotyped in 265 cases [169 acute lymphoblastic leukemia (ALL) and 96 acute myeloid leukaemia (AML)] and 505 controls by Taqman allelic discrimination assay. | 0.001085767 | 2014 | CEBPE | 14 | 23119848 | G | A |
rs2536 | 21973240 | 2475 | MTOR | umls:C0023449 | BeFree | We 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. | 0.000271442 | 2012 | MTOR | 1 | 11106656 | T | C |
rs267607131 | 10077164 | 7150 | TOP1 | umls:C0023449 | BeFree | In 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. | 0.000271442 | 1999 | TOP1;PLCG1-AS1 | 20 | 41114115 | A | G |
rs28934595 | 15863206 | 3077 | HFE | umls:C0023449 | BeFree | We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C). | 0.000814326 | 2005 | HFE | 6 | 26091354 | A | C |
rs28934595 | 15863206 | 7036 | TFR2 | umls:C0023449 | BeFree | We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C). | 0.000271442 | 2005 | HFE | 6 | 26091354 | A | C |
rs28934889 | 15863206 | 3077 | HFE | umls:C0023449 | BeFree | We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C). | 0.000814326 | 2005 | HFE | 6 | 26090921 | G | A |
rs28934889 | 15863206 | 7036 | TFR2 | umls:C0023449 | BeFree | We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C). | 0.000271442 | 2005 | HFE | 6 | 26090921 | G | A |
rs35947132 | 15921391 | 5551 | PRF1 | umls:C0023449 | BeFree | We screened 100 children with acute lymphoblastic leukemia (ALL) to assess the incidence of single amino acid change A91V in perforin. | 0.000814326 | 2005 | PRF1 | 10 | 70600631 | G | A |
rs368005287 | 15462611 | 1576 | CYP3A4 | umls:C0023449 | BeFree | Towards 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. | 0.001628651 | 2004 | CYP3A4 | 7 | 99762071 | C | T |
rs368005287 | 15462611 | 2908 | NR3C1 | umls:C0023449 | BeFree | Towards 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. | 0.004071628 | 2004 | CYP3A4 | 7 | 99762071 | C | T |
rs368087026 | 18458567 | 4524 | MTHFR | umls:C0023449 | BeFree | We 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. | 0.01601507 | 2008 | SLC19A1 | 21 | 45530890 | G | A |
rs368087026 | 22838948 | 6573 | SLC19A1 | umls:C0023449 | BeFree | Children 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. | 0.002714419 | 2012 | SLC19A1 | 21 | 45530890 | G | A |
rs368087026 | 22838948 | 6470 | SHMT1 | umls:C0023449 | BeFree | Children 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. | 0.000542884 | 2012 | SLC19A1 | 21 | 45530890 | G | A |
rs368087026 | 18458567 | 6573 | SLC19A1 | umls:C0023449 | BeFree | We 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. | 0.002714419 | 2008 | SLC19A1 | 21 | 45530890 | G | A |
rs368087026 | 22838948 | 7298 | TYMS | umls:C0023449 | BeFree | Children 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. | 0.003528744 | 2012 | SLC19A1 | 21 | 45530890 | G | A |
rs368087026 | 22838948 | 2346 | FOLH1 | umls:C0023449 | BeFree | Children 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. | 0.000271442 | 2012 | SLC19A1 | 21 | 45530890 | G | A |
rs368087026 | 22838948 | 4524 | MTHFR | umls:C0023449 | BeFree | Children 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. | 0.01601507 | 2012 | SLC19A1 | 21 | 45530890 | G | A |
rs368939818 | 22838948 | 4524 | MTHFR | umls:C0023449 | BeFree | Children 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. | 0.01601507 | 2012 | FOLH1 | 11 | 49156734 | G | A |
rs368939818 | 22838948 | 7298 | TYMS | umls:C0023449 | BeFree | Children 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. | 0.003528744 | 2012 | FOLH1 | 11 | 49156734 | G | A |
rs368939818 | 22838948 | 6573 | SLC19A1 | umls:C0023449 | BeFree | Children 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. | 0.002714419 | 2012 | FOLH1 | 11 | 49156734 | G | A |
rs368939818 | 22838948 | 2346 | FOLH1 | umls:C0023449 | BeFree | Children 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. | 0.000271442 | 2012 | FOLH1 | 11 | 49156734 | G | A |
rs368939818 | 22838948 | 6470 | SHMT1 | umls:C0023449 | BeFree | Children 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. | 0.000542884 | 2012 | FOLH1 | 11 | 49156734 | G | A |
rs3731217 | 20453839 | 1029 | CDKN2A | umls:C0023449 | BeFree | Using 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. | 0.02035814 | 2010 | CDKN2A | 9 | 21984662 | A | C |
rs3824662 | 23996088 | 861 | RUNX1 | umls:C0023449 | BeFree | The rs10828317 association was shown to be specifically associated with hyperdiploid ALL, whereas the rs3824662-associated risk was confined to nonhyperdiploid non-TEL-AML1 + ALL. | 0.044516467 | 2014 | GATA3 | 10 | 8062245 | C | A |
rs386514057 | 22838948 | 6470 | SHMT1 | umls:C0023449 | BeFree | Children 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. | 0.000542884 | 2012 | NA | NA | NA | NA | NA |
rs386514057 | 18458567 | 6573 | SLC19A1 | umls:C0023449 | BeFree | We 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. | 0.002714419 | 2008 | NA | NA | NA | NA | NA |
rs386514057 | 22838948 | 7298 | TYMS | umls:C0023449 | BeFree | Children 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. | 0.003528744 | 2012 | NA | NA | NA | NA | NA |
rs386514057 | 22838948 | 4524 | MTHFR | umls:C0023449 | BeFree | Children 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. | 0.01601507 | 2012 | NA | NA | NA | NA | NA |
rs386514057 | 22838948 | 6573 | SLC19A1 | umls:C0023449 | BeFree | Children 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. | 0.002714419 | 2012 | NA | NA | NA | NA | NA |
rs386514057 | 22838948 | 2346 | FOLH1 | umls:C0023449 | BeFree | Children 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. | 0.000271442 | 2012 | NA | NA | NA | NA | NA |
rs386514057 | 18458567 | 4524 | MTHFR | umls:C0023449 | BeFree | We 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. | 0.01601507 | 2008 | NA | NA | NA | NA | NA |
rs386514057 | 22914600 | 6573 | SLC19A1 | umls:C0023449 | BeFree | This study evaluated the effect of the G80A polymorphism in the RFC1 gene on survival and risk of relapse of acute lymphoblastic leukemia. | 0.002714419 | 2012 | NA | NA | NA | NA | NA |
rs386626619 | 20538800 | 3717 | JAK2 | umls:C0023449 | BeFree | Moreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplasias (n = 96), a single case of acute lymphoblastic leukemia (n = 96), and none in chronic myeloid leukemias (n = 81). | 0.005428837 | 2010 | NA | NA | NA | NA | NA |
rs386626619 | 20538800 | 3417 | IDH1 | umls:C0023449 | BeFree | Moreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplasias (n = 96), a single case of acute lymphoblastic leukemia (n = 96), and none in chronic myeloid leukemias (n = 81). | 0.001085767 | 2010 | NA | NA | NA | NA | NA |
rs386626619 | 20538800 | 3418 | IDH2 | umls:C0023449 | BeFree | Moreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplasias (n = 96), a single case of acute lymphoblastic leukemia (n = 96), and none in chronic myeloid leukemias (n = 81). | 0.001085767 | 2010 | NA | NA | NA | NA | NA |
rs397507444 | 23183238 | 4524 | MTHFR | umls:C0023449 | BeFree | C677T and A1298C polymorphisms of the methylenetetrahydrofolate reductase gene: effect on methotrexate-related toxicity in adult acute lymphoblastic leukaemia. | 0.01601507 | 2013 | MTHFR | 1 | 11794407 | T | G |
rs397507444 | 19391036 | 4524 | MTHFR | umls:C0023449 | BeFree | Methylenetetrahydrofolate reductase C677T and A1298C gene polymorphisms and therapy-related toxicity in children treated for acute lymphoblastic leukemia and non-Hodgkin lymphoma. | 0.01601507 | 2009 | MTHFR | 1 | 11794407 | T | G |
rs397507444 | 21495160 | 4524 | MTHFR | umls:C0023449 | BeFree | A meta-analysis of MTHFR C677T and A1298C polymorphisms and risk of acute lymphoblastic leukemia in children. | 0.01601507 | 2012 | MTHFR | 1 | 11794407 | T | G |
rs397507444 | 22017305 | 4524 | MTHFR | umls:C0023449 | BeFree | The 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. | 0.01601507 | 2012 | MTHFR | 1 | 11794407 | T | G |
rs397507444 | 20367562 | 4524 | MTHFR | umls:C0023449 | BeFree | We 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. | 0.01601507 | 2010 | MTHFR | 1 | 11794407 | T | G |
rs397507444 | 16706930 | 4524 | MTHFR | umls:C0023449 | BeFree | Methylenetetrahydrofolate reductase A1298C genotypes are associated with the risks of acute lymphoblastic leukaemia and chronic myelogenous leukaemia in the Korean population. | 0.01601507 | 2006 | MTHFR | 1 | 11794407 | T | G |
rs397507444 | 17023046 | 1728 | NQO1 | umls:C0023449 | BeFree | Most 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). | 0.003800186 | 2006 | MTHFR | 1 | 11794407 | T | G |
rs397507444 | 24237708 | 4524 | MTHFR | umls:C0023449 | BeFree | The effect of RFC G80A polymorphism in Cretan children with acute lymphoblastic leukemia and its interaction with MTHFR C677T and A1298C polymorphisms. | 0.01601507 | 2013 | MTHFR | 1 | 11794407 | T | G |
rs397507444 | 18804702 | 4524 | MTHFR | umls:C0023449 | BeFree | Certain 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. | 0.01601507 | 2008 | MTHFR | 1 | 11794407 | T | G |
rs397507444 | 17023046 | 4524 | MTHFR | umls:C0023449 | BeFree | Most 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). | 0.01601507 | 2006 | MTHFR | 1 | 11794407 | T | G |
rs397507520 | 22315187 | 5781 | PTPN11 | umls:C0023449 | BeFree | Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139D. | 0.001900093 | 2012 | PTPN11 | 12 | 112453279 | G | C,T |
rs4132601 | 24597983 | 10320 | IKZF1 | umls:C0023449 | BeFree | Since 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. | 0.011400559 | 2015 | IKZF1 | 7 | 50402906 | T | G |
rs414580 | 24604828 | 10848 | PPP1R13L | umls:C0023449 | BeFree | Common 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. | 0.000271442 | 2014 | MSR1 | 8 | 16177793 | T | C,A |
rs414580 | 24604828 | 4481 | MSR1 | umls:C0023449 | BeFree | Common 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. | 0.000271442 | 2014 | MSR1 | 8 | 16177793 | T | C,A |
rs4149056 | 23233662 | 10599 | SLCO1B1 | umls:C0023449 | BeFree | This 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. | 0.000271442 | 2013 | SLCO1B1 | 12 | 21178615 | T | C |
rs587776834 | NA | 2322 | FLT3 | umls:C0023449 | CLINVAR | NA | 0.130314791 | NA | FLT3 | 13 | 28034140 | ATC | - |
rs6021191 | 25987655 | 4773 | NFATC2 | umls:C0023449 | BeFree | RNA-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). | 0.000271442 | 2015 | NFATC2 | 20 | 51419700 | A | T |
rs61754966 | 15338273 | 4683 | NBN | umls:C0023449 | BeFree | Four 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. | 0.001085767 | 2004 | NBN | 8 | 89978293 | T | C |
rs6966 | 24604828 | 10848 | PPP1R13L | umls:C0023449 | BeFree | Common 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. | 0.000271442 | 2014 | PPP1R13L | 19 | 45379704 | T | A |
rs6966 | 24604828 | 4481 | MSR1 | umls:C0023449 | BeFree | Common 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. | 0.000271442 | 2014 | PPP1R13L | 19 | 45379704 | T | A |
rs72481843 | 15462611 | 1576 | CYP3A4 | umls:C0023449 | BeFree | Towards 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. | 0.001628651 | 2004 | NR3C1 | 5 | 143300685 | C | G |
rs72481843 | 15462611 | 2908 | NR3C1 | umls:C0023449 | BeFree | Towards 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. | 0.004071628 | 2004 | NR3C1 | 5 | 143300685 | C | G |
rs77375493 | 20538800 | 3717 | JAK2 | umls:C0023449 | BeFree | Moreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplasias (n = 96), a single case of acute lymphoblastic leukemia (n = 96), and none in chronic myeloid leukemias (n = 81). | 0.005428837 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
rs77375493 | 20538800 | 3417 | IDH1 | umls:C0023449 | BeFree | Moreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplasias (n = 96), a single case of acute lymphoblastic leukemia (n = 96), and none in chronic myeloid leukemias (n = 81). | 0.001085767 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
rs77375493 | 20538800 | 3418 | IDH2 | umls:C0023449 | BeFree | Moreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplasias (n = 96), a single case of acute lymphoblastic leukemia (n = 96), and none in chronic myeloid leukemias (n = 81). | 0.001085767 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
rs80338880 | 15863206 | 7036 | TFR2 | umls:C0023449 | BeFree | We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C). | 0.000271442 | 2005 | TFR2;LOC105375428 | 7 | 100633100 | G | C |
rs80338880 | 15863206 | 3077 | HFE | umls:C0023449 | BeFree | We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C). | 0.000814326 | 2005 | TFR2;LOC105375428 | 7 | 100633100 | G | C |
GWASdb Annotation(Total Genotypes:0) | |
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(Waiting for update.) |
GWASdb Snp Trait(Total Genotypes:5) | |||||||||||||||||||||||||||||
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CHR | POS | SNPID | REF | ALT | ORI_SNPID | PMID | P_VALUE | P_VALUE_TEXT | OR/BETA | CI95_TEXT | GWAS_INITIAL_SAMPLE_SIZE | SUB_POPULATION | SUPER_POPULATION | GWAS_TRAIT | HPO_ID | HPO_TERM | DO_ID | DO_TERM | MESH_ID | MESH_TERM | EFO_ID | EFO_TERM | DOLITE_TERM | RISK_ALLELE | PUBLICATION_TYPE | AA | GENE_SYMBOL | TYPE | REFGENE |
2 | 136720344 | rs3768998 | G | T | rs3768998 | 21072045 | 5.82E-04 | Asparaginase sensitivity in cell lines | NA | NA | 83 European LCL cell lines (HapMap) | European(83) | ALL(83) | EUR(83) | ALL(83) | Asparaginase sensitivity in blood cell lines | HPOID:0006721 | Acute lymphatic leukemia | DOID:9952 | acute lymphocytic leukemia | NA | NA | NA | NA | Leukemia | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
5 | 153170374 | rs4958351 | G | A,C,T | rs4958351 | 20592726 | 4.00E-07 | Asparaginase hypersensitivity in acute lymphoblastic leukemia | NA | NA | 322 children with acute lymphoblastic leukemia | NOPOP(322) | ALL(322) | NOPOP(322) | ALL(322) | Asparaginase hypersensitivity in acute lymphoblastic leukemia | HPOID:0006721 | Acute lymphatic leukemia | DOID:9952 | acute lymphocytic leukemia | NA | NA | NA | NA | Leukemia | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
19 | 20887230 | rs12609807 | A | G | rs12609807 | 21072045 | 4.90E-06 | Asparaginase sensitivity in cell lines | NA | NA | 83 European LCL cell lines (HapMap) | European(83) | ALL(83) | EUR(83) | ALL(83) | Asparaginase sensitivity in blood cell lines | HPOID:0006721 | Acute lymphatic leukemia | DOID:9952 | acute lymphocytic leukemia | NA | NA | NA | NA | Leukemia | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
22 | 40757228 | rs8135371 | A | C | rs8135371 | 21072045 | 6.93E-04 | Asparaginase sensitivity in cell lines | NA | NA | 83 European LCL cell lines (HapMap) | European(83) | ALL(83) | EUR(83) | ALL(83) | Asparaginase sensitivity in blood cell lines | HPOID:0006721 | Acute lymphatic leukemia | DOID:9952 | acute lymphocytic leukemia | NA | NA | NA | NA | Leukemia | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
22 | 40757228 | rs8135371 | A | C | rs8135371 | 21072045 | 7.40E-04 | ADSL gene expression in lymphoblastoid cell lines | NA | NA | 83 European LCL cell lines (HapMap) | European(83) | ALL(83) | EUR(83) | ALL(83) | Asparaginase sensitivity in blood cell lines | HPOID:0006721 | Acute lymphatic leukemia | DOID:9952 | acute lymphocytic leukemia | NA | NA | NA | NA | Leukemia | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
Mapped by lexical matching(Total Items:0) |
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(Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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(Waiting for update.) |
Disease ID | 459 |
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Disease | acute lymphocytic leukemia |
Case | (Waiting for update.) |