PedAM
Pediatric Disease Annotations & Medicines
| acute lymphoblastic leukemia, childhood | ||||
| Disease ID | 1969 |
|---|---|
| Disease | acute lymphoblastic leukemia, childhood |
| Definition | When the disease process is confined to a mass lesion with no or minimal evidence of blood and less than 25% marrow involvement, the diagnosis is lymphoblastic lymphoma; with blood and greater than 25% marrow involvement, ALL is the appropriate term. |
| Synonym | acute lymphoblastic leukemia, pediatric acute lymphocytic leukemia, childhood acute lymphocytic leukemia, pediatric all, childhood all, pediatric childhood acute lymphoblastic leukemia childhood acute lymphocytic leukemia childhood acute lymphogenous leukemia childhood acute lymphoid leukemia childhood all childhood leukemia, acute lymphoblastic childhood leukemia, acute lymphocytic childhood precursor lymphoblastic leukemia l1 acute lymphoblastic leukemia l1 lymphocytic leukemia leukemia, acute lymphoblastic, childhood leukemia, acute lymphoblastic, pediatric leukemia, acute lymphocytic (all), child leukemia, acute lymphocytic, childhood leukemia, acute lymphocytic, pediatric leukemia, l1 lymphocytic leukemia, lymphoblastic, acute, l1 leukemia, lymphocytic, acute, l1 lymphoblastic leukemia, acute, childhood lymphoblastic leukemia, acute, l1 lymphoblastic leukemia, acute, pediatric lymphocytic leukemia, acute, childhood lymphocytic leukemia, acute, pediatric lymphocytic leukemia, l1 pediatric acute lymphoblastic leukemia pediatric acute lymphocytic leukemia pediatric acute lymphocytic leukemia (all) pediatric acute lymphogenous leukemia pediatric acute lymphoid leukemia pediatric all pediatric leukemia, acute lymphocytic |
| DOID | |
| UMLS | C0023452 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:5) C1568868 | oral mucositis | 2 C0031117 | peripheral neuropathy | 1 C0023418 | leukemia | 1 C0442874 | neuropathy | 1 C0002871 | anemia | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:11) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1969 |
|---|---|
| Disease | acute lymphoblastic leukemia, childhood |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) HP:0000708 | Behavioral problems | 2 HP:0009830 | Peripheral neuritis | 1 HP:0001909 | Leukemia | 1 HP:0001903 | Anemia | 1 |
| Disease ID | 1969 |
|---|---|
| Disease | acute lymphoblastic leukemia, childhood |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:149) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1042522 | 23653000 | 7157 | TP53 | umls:C0023452 | BeFree | Genetic polymorphisms in the 3'UTR region of the CXCL12 (rs1801157) and TP53 codon 72 (rs1042522) genes may contribute to susceptibility to childhood ALL because they affect some important processes, such as metastasis regulation and tumor suppression. | 0.005157396 | 2013 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 19837266 | 7157 | TP53 | umls:C0023452 | BeFree | TP53 R72P and MDM2 SNP309 polymorphisms in modification of childhood acute lymphoblastic leukemia susceptibility. | 0.005157396 | 2009 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 19837266 | 4193 | MDM2 | umls:C0023452 | BeFree | TP53 R72P and MDM2 SNP309 polymorphisms in modification of childhood acute lymphoblastic leukemia susceptibility. | 0.002442977 | 2009 | TP53 | 17 | 7676154 | G | T,C |
| rs1043618 | 20012387 | 3305 | HSPA1L | umls:C0023452 | BeFree | To systematically evaluate their associations with childhood acute lymphoblastic leukemia (ALL), we examined the three functional single nucleotide polymorphisms (SNPs) rs2227956 (T493M) in HSPA1L, rs1043618 in HSPA1A 5'UTR, and rs1061581 (Q351Q) in HSPA1B by TaqMan assays or polymerase chain reaction-restriction fragment length polymorphism in 114 ALL cases and 414 controls from Wales (UK), in 100 Mexican Mestizo ALL cases and 253 controls belonging to the same ethnic group, and in a panel of 82 HLA-typed reference cell line samples. | 0.000271442 | 2010 | HSPA1A;HSPA1L | 6 | 31815730 | G | C,T |
| rs1043618 | 20012387 | 3303 | HSPA1A | umls:C0023452 | BeFree | To systematically evaluate their associations with childhood acute lymphoblastic leukemia (ALL), we examined the three functional single nucleotide polymorphisms (SNPs) rs2227956 (T493M) in HSPA1L, rs1043618 in HSPA1A 5'UTR, and rs1061581 (Q351Q) in HSPA1B by TaqMan assays or polymerase chain reaction-restriction fragment length polymorphism in 114 ALL cases and 414 controls from Wales (UK), in 100 Mexican Mestizo ALL cases and 253 controls belonging to the same ethnic group, and in a panel of 82 HLA-typed reference cell line samples. | 0.000271442 | 2010 | HSPA1A;HSPA1L | 6 | 31815730 | G | C,T |
| rs1045642 | 19317599 | 5243 | ABCB1 | umls:C0023452 | BeFree | To determine the influence of the MDR1 C3435T polymorphism on the development of childhood acute lymphoblastic leukemia (ALL), we studied 107 children with ALL and 111 healthy subjects. | 0.004071628 | 2008 | ABCB1 | 7 | 87509329 | A | T,G |
| rs1045642 | 25854371 | 5243 | ABCB1 | umls:C0023452 | BeFree | MDR1 C3435T and C1236T polymorphisms: association with high-risk childhood acute lymphoblastic leukemia. | 0.004071628 | 2016 | ABCB1 | 7 | 87509329 | A | T,G |
| rs1045642 | 25661341 | 5243 | ABCB1 | umls:C0023452 | BeFree | MDR1 C3435T polymorphism and childhood acute lymphoblastic leukemia susceptibility: an updated meta-analysis. | 0.004071628 | 2014 | ABCB1 | 7 | 87509329 | A | T,G |
| rs1045642 | 15059065 | 5243 | ABCB1 | umls:C0023452 | BeFree | Functional C3435T polymorphism of MDR1 gene: an impact on genetic susceptibility and clinical outcome of childhood acute lymphoblastic leukemia. | 0.004071628 | 2004 | ABCB1 | 7 | 87509329 | A | T,G |
| rs104893636 | 15776434 | 3233 | HOXD4 | umls:C0023452 | BeFree | The p.Glu81Val mutation of HOXD4 thus results in a partial loss-of-function, which might be involved in childhood ALL. | 0.000271442 | 2005 | HOXD3;HOXD4 | 2 | 176151875 | A | C,T |
| rs1051266 | 24367687 | 6573 | SLC19A1 | umls:C0023452 | BeFree | There was evidence that the minor alleles of NOS3 rs3918186 (OR = 2.16; 95% CI: 1.51-3.15) and SLC19A1 rs1051266 (OR = 2.07; 95% CI: 1.25-3.46) were positively associated with childhood ALL. | 0.001085767 | 2013 | SLC19A1 | 21 | 45537880 | T | C |
| rs1051266 | 24597986 | 6573 | SLC19A1 | umls:C0023452 | BeFree | In conclusion, the RFC1 G80A polymorphism does not seem to be a good marker of MTX-related toxicity in pediatric ALL. | 0.001085767 | 2015 | SLC19A1 | 21 | 45537880 | T | C |
| rs1052133 | 21401806 | 4968 | OGG1 | umls:C0023452 | BeFree | hOGG1 Ser326Cys polymorphism and risk of childhood acute lymphoblastic leukemia in a Chinese population. | 0.000542884 | 2011 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1061581 | 20012387 | 3303 | HSPA1A | umls:C0023452 | BeFree | To systematically evaluate their associations with childhood acute lymphoblastic leukemia (ALL), we examined the three functional single nucleotide polymorphisms (SNPs) rs2227956 (T493M) in HSPA1L, rs1043618 in HSPA1A 5'UTR, and rs1061581 (Q351Q) in HSPA1B by TaqMan assays or polymerase chain reaction-restriction fragment length polymorphism in 114 ALL cases and 414 controls from Wales (UK), in 100 Mexican Mestizo ALL cases and 253 controls belonging to the same ethnic group, and in a panel of 82 HLA-typed reference cell line samples. | 0.000271442 | 2010 | HSPA1A;HSPA1L | 6 | 31816809 | G | A |
| rs1061581 | 20012387 | 3305 | HSPA1L | umls:C0023452 | BeFree | To systematically evaluate their associations with childhood acute lymphoblastic leukemia (ALL), we examined the three functional single nucleotide polymorphisms (SNPs) rs2227956 (T493M) in HSPA1L, rs1043618 in HSPA1A 5'UTR, and rs1061581 (Q351Q) in HSPA1B by TaqMan assays or polymerase chain reaction-restriction fragment length polymorphism in 114 ALL cases and 414 controls from Wales (UK), in 100 Mexican Mestizo ALL cases and 253 controls belonging to the same ethnic group, and in a panel of 82 HLA-typed reference cell line samples. | 0.000271442 | 2010 | HSPA1A;HSPA1L | 6 | 31816809 | G | A |
| rs1076991 | 23940529 | 4522 | MTHFD1 | umls:C0023452 | BeFree | The genotype distribution of the MTHFD1 rs1076991 differed significantly between the ALL and control population. | 0.000814326 | 2013 | MTHFD1 | 14 | 64388323 | T | G,C |
| rs10821936 | 19684603 | 84159 | ARID5B | umls:C0023452 | GWASCAT | These ARID5B SNPs also distinguished B-hyperdiploid ALL from other subtypes in an independent validation cohort (n = 124 children with ALL; P = 0.003 and P = 0.0008, OR 2.45 and 2.86, respectively) and were associated with methotrexate accumulation and gene expression pattern in leukemic lymphoblasts. | 0.12434307 | 2009 | ARID5B | 10 | 61963818 | C | T |
| rs10821936 | 23975371 | 84159 | ARID5B | umls:C0023452 | BeFree | ARID5B gene rs10821936 polymorphism is associated with childhood acute lymphoblastic leukemia: a meta-analysis based on 39,116 subjects. | 0.12434307 | 2013 | ARID5B | 10 | 61963818 | C | T |
| rs10821936 | 23512250 | 84159 | ARID5B | umls:C0023452 | GWASCAT | Novel susceptibility variants at 10p12.31-12.2 for childhood acute lymphoblastic leukemia in ethnically diverse populations. | 0.12434307 | 2013 | ARID5B | 10 | 61963818 | C | T |
| rs10821936 | 22076464 | 84159 | ARID5B | umls:C0023452 | GWASCAT | Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia. | 0.12434307 | 2012 | ARID5B | 10 | 61963818 | C | T |
| rs10821936 | 22422485 | 84159 | ARID5B | umls:C0023452 | BeFree | For ARID5B (rs10821936), homozygosity for the variant allele increased risk for the ALL/MLL- subgroup only (OR = 7.2, 95% CI = 2.5-20.6). | 0.12434307 | 2013 | ARID5B | 10 | 61963818 | C | T |
| rs11155133 | 19684603 | 102723724 | LOC102723724 | umls:C0023452 | GWASCAT | Germline genomic variants associated with childhood acute lymphoblastic leukemia. | 0.12 | 2009 | LOC102723724 | 6 | 140848688 | A | G |
| rs1127354 | 25099492 | 7172 | TPMT | umls:C0023452 | BeFree | The aims of this study were to (a) to determine the prevalence of seven common genetic polymorphisms including those that affect the folate and/or thiopurine metabolic pathways, i.e. cyclin D1 (CCND1-G870A), γ-glutamyl hydrolase (GGH-C452T), methylenetetrahydrofolate reductase (MTHFR-C677T and MTHFR-A1298C), thymidylate synthase promoter (TYMS-TSER), thiopurine methyltransferase (TPMT*3A and TPMT*3C) and inosine triphosphate pyrophosphatase (ITPA-C94A), in Caucasian (n = 94, age < 20) and Vietnamese (n = 141, age < 16 years) childhood ALL and (b) to assess the impact of a multilocus genetic risk score (MGRS) on relapse-free survival (RFS) using a Cox proportional-hazards regression model. | 0.003528744 | 2014 | ITPA | 20 | 3213196 | C | A,G,T |
| rs1127354 | 25099492 | 3704 | ITPA | umls:C0023452 | BeFree | The aims of this study were to (a) to determine the prevalence of seven common genetic polymorphisms including those that affect the folate and/or thiopurine metabolic pathways, i.e. cyclin D1 (CCND1-G870A), γ-glutamyl hydrolase (GGH-C452T), methylenetetrahydrofolate reductase (MTHFR-C677T and MTHFR-A1298C), thymidylate synthase promoter (TYMS-TSER), thiopurine methyltransferase (TPMT*3A and TPMT*3C) and inosine triphosphate pyrophosphatase (ITPA-C94A), in Caucasian (n = 94, age < 20) and Vietnamese (n = 141, age < 16 years) childhood ALL and (b) to assess the impact of a multilocus genetic risk score (MGRS) on relapse-free survival (RFS) using a Cox proportional-hazards regression model. | 0.000271442 | 2014 | ITPA | 20 | 3213196 | C | A,G,T |
| rs1128503 | 25854371 | 5243 | ABCB1 | umls:C0023452 | BeFree | MDR1 C3435T and C1236T polymorphisms: association with high-risk childhood acute lymphoblastic leukemia. | 0.004071628 | 2016 | ABCB1 | 7 | 87550285 | A | G |
| rs1137100 | 21631924 | 3952 | LEP | umls:C0023452 | BeFree | Plasma levels of leptin and soluble leptin receptor and polymorphisms of leptin gene -18G > A and leptin receptor genes K109R and Q223R, in survivors of childhood acute lymphoblastic leukemia. | 0.000271442 | 2011 | LEPR | 1 | 65570758 | A | G |
| rs1137100 | 21631924 | 3953 | LEPR | umls:C0023452 | BeFree | Plasma levels of leptin and soluble leptin receptor and polymorphisms of leptin gene -18G > A and leptin receptor genes K109R and Q223R, in survivors of childhood acute lymphoblastic leukemia. | 0.000542884 | 2011 | LEPR | 1 | 65570758 | A | G |
| rs1137101 | 21631924 | 3952 | LEP | umls:C0023452 | BeFree | Plasma levels of leptin and soluble leptin receptor and polymorphisms of leptin gene -18G > A and leptin receptor genes K109R and Q223R, in survivors of childhood acute lymphoblastic leukemia. | 0.000271442 | 2011 | LEPR | 1 | 65592830 | A | G |
| rs1137101 | 21631924 | 3953 | LEPR | umls:C0023452 | BeFree | Plasma levels of leptin and soluble leptin receptor and polymorphisms of leptin gene -18G > A and leptin receptor genes K109R and Q223R, in survivors of childhood acute lymphoblastic leukemia. | 0.000542884 | 2011 | LEPR | 1 | 65592830 | A | G |
| rs11540654 | 19837266 | 7157 | TP53 | umls:C0023452 | BeFree | TP53 R72P and MDM2 SNP309 polymorphisms in modification of childhood acute lymphoblastic leukemia susceptibility. | 0.005157396 | 2009 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 19837266 | 4193 | MDM2 | umls:C0023452 | BeFree | TP53 R72P and MDM2 SNP309 polymorphisms in modification of childhood acute lymphoblastic leukemia susceptibility. | 0.002442977 | 2009 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11978267 | 19684603 | 10320 | IKZF1 | umls:C0023452 | GWASCAT | Germline genomic variants associated with childhood acute lymphoblastic leukemia. | 0.125428837 | 2009 | IKZF1;LOC105375275 | 7 | 50398606 | A | G |
| rs11978267 | 22076464 | 10320 | IKZF1 | umls:C0023452 | GWASCAT | Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia. | 0.125428837 | 2012 | IKZF1;LOC105375275 | 7 | 50398606 | A | G |
| rs1360756 | 20189245 | 6936 | GCFC2 | umls:C0023452 | BeFree | Of these 1 million SNPs, six SNPs in 4 genes (HAO1 rs6140264, EPB41L2 rs9388856, rs9388857, rs1360756, C2orf3 12105972, MAN2A1 rs3776932) were strongly associated with childhood ALL risk (P(dominant)<or=0.0001 and P(trend)<0.006). | 0.000271442 | 2010 | EPB41L2;SMLR1 | 6 | 130828276 | C | T |
| rs1360756 | 20189245 | 4124 | MAN2A1 | umls:C0023452 | BeFree | Of these 1 million SNPs, six SNPs in 4 genes (HAO1 rs6140264, EPB41L2 rs9388856, rs9388857, rs1360756, C2orf3 12105972, MAN2A1 rs3776932) were strongly associated with childhood ALL risk (P(dominant)<or=0.0001 and P(trend)<0.006). | 0.000271442 | 2010 | EPB41L2;SMLR1 | 6 | 130828276 | C | T |
| rs1573613 | 24886876 | 2120 | ETV6 | umls:C0023452 | BeFree | Here we show that variant alleles of TLX1_rs2742038 and ETV6_rs1573613 were associated with increased risk of childhood ALL (OR (95% CI) = 3.97 (1.43-11.02) and 1.9 (1.16-3.11), respectively), while PML_rs9479 was associated with decreased ALL risk (OR = 0.55 (0.36-0.86). | 0.028425452 | 2014 | ETV6 | 12 | 11894684 | T | C |
| rs1573613 | 24886876 | 5371 | PML | umls:C0023452 | BeFree | Here we show that variant alleles of TLX1_rs2742038 and ETV6_rs1573613 were associated with increased risk of childhood ALL (OR (95% CI) = 3.97 (1.43-11.02) and 1.9 (1.16-3.11), respectively), while PML_rs9479 was associated with decreased ALL risk (OR = 0.55 (0.36-0.86). | 0.001085767 | 2014 | ETV6 | 12 | 11894684 | T | C |
| rs1573613 | 24886876 | 3195 | TLX1 | umls:C0023452 | BeFree | Here we show that variant alleles of TLX1_rs2742038 and ETV6_rs1573613 were associated with increased risk of childhood ALL (OR (95% CI) = 3.97 (1.43-11.02) and 1.9 (1.16-3.11), respectively), while PML_rs9479 was associated with decreased ALL risk (OR = 0.55 (0.36-0.86). | 0.000542884 | 2014 | ETV6 | 12 | 11894684 | T | C |
| rs17505102 | 22076464 | 8626 | TP63 | umls:C0023452 | GWASCAT | Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia. | 0.12 | 2012 | TP63 | 3 | 189683987 | G | C |
| rs1799782 | 22712837 | 7515 | XRCC1 | umls:C0023452 | BeFree | XRCC1 Arg399Gln and Arg194Trp polymorphisms in childhood acute lymphoblastic leukemia risk: a meta-analysis. | 0.005081451 | 2013 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 20013659 | 7515 | XRCC1 | umls:C0023452 | BeFree | We examined the influence of the Arg194Trp, Arg280His, and Arg399Gln polymorphisms of XRCC1 (X-ray repair cross-complementing group 1) on the development of childhood acute lymphoblastic leukemia (ALL) in 120 ALL patients and 120 controls in Mexico. | 0.005081451 | 2009 | XRCC1 | 19 | 43553422 | G | A |
| rs1799945 | 25085015 | 164656 | TMPRSS6 | umls:C0023452 | BeFree | Using a multi-ethnic sample of cases and controls from Houston, TX, we examined two HFE variants (rs1800562 and rs1799945), one transferrin receptor gene (TFRC) variant (rs3817672) and three additional iron regulatory gene (IRG) variants (SLC11A2 rs422982; TMPRSS6 rs855791 and rs733655) for their associations with childhood ALL. | 0.000271442 | 2014 | HFE | 6 | 26090951 | C | G |
| rs1799945 | 12002748 | 3077 | HFE | umls:C0023452 | BeFree | The other HFE mutation H63D does not confer increased risk to childhood ALL. | 0.000542884 | 2002 | HFE | 6 | 26090951 | C | G |
| rs1799945 | 25085015 | 7037 | TFRC | umls:C0023452 | BeFree | Using a multi-ethnic sample of cases and controls from Houston, TX, we examined two HFE variants (rs1800562 and rs1799945), one transferrin receptor gene (TFRC) variant (rs3817672) and three additional iron regulatory gene (IRG) variants (SLC11A2 rs422982; TMPRSS6 rs855791 and rs733655) for their associations with childhood ALL. | 0.000271442 | 2014 | HFE | 6 | 26090951 | C | G |
| rs1799945 | 25085015 | 4891 | SLC11A2 | umls:C0023452 | BeFree | Using a multi-ethnic sample of cases and controls from Houston, TX, we examined two HFE variants (rs1800562 and rs1799945), one transferrin receptor gene (TFRC) variant (rs3817672) and three additional iron regulatory gene (IRG) variants (SLC11A2 rs422982; TMPRSS6 rs855791 and rs733655) for their associations with childhood ALL. | 0.000271442 | 2014 | HFE | 6 | 26090951 | C | G |
| rs1800562 | 25085015 | 4891 | SLC11A2 | umls:C0023452 | BeFree | Using a multi-ethnic sample of cases and controls from Houston, TX, we examined two HFE variants (rs1800562 and rs1799945), one transferrin receptor gene (TFRC) variant (rs3817672) and three additional iron regulatory gene (IRG) variants (SLC11A2 rs422982; TMPRSS6 rs855791 and rs733655) for their associations with childhood ALL. | 0.000271442 | 2014 | HFE | 6 | 26092913 | G | A |
| rs1800562 | 25085015 | 164656 | TMPRSS6 | umls:C0023452 | BeFree | Using a multi-ethnic sample of cases and controls from Houston, TX, we examined two HFE variants (rs1800562 and rs1799945), one transferrin receptor gene (TFRC) variant (rs3817672) and three additional iron regulatory gene (IRG) variants (SLC11A2 rs422982; TMPRSS6 rs855791 and rs733655) for their associations with childhood ALL. | 0.000271442 | 2014 | HFE | 6 | 26092913 | G | A |
| rs1800562 | 19806355 | 3077 | HFE | umls:C0023452 | BeFree | The most common mutation of the HFE gene C282Y has shown a risk association with childhood acute lymphoblastic leukemia (ALL) in Welsh and Scottish case-control studies. | 0.000542884 | 2010 | HFE | 6 | 26092913 | G | A |
| rs1800562 | 25085015 | 7037 | TFRC | umls:C0023452 | BeFree | Using a multi-ethnic sample of cases and controls from Houston, TX, we examined two HFE variants (rs1800562 and rs1799945), one transferrin receptor gene (TFRC) variant (rs3817672) and three additional iron regulatory gene (IRG) variants (SLC11A2 rs422982; TMPRSS6 rs855791 and rs733655) for their associations with childhood ALL. | 0.000271442 | 2014 | HFE | 6 | 26092913 | G | A |
| rs1800629 | 24798719 | 7124 | TNF | umls:C0023452 | BeFree | TNF-α SNP rs1800629 and risk of relapse in childhood acute lymphoblastic leukemia: relation to immunophenotype. | 0.003181358 | 2014 | TNF | 6 | 31575254 | G | A |
| rs1801157 | 23653000 | 7157 | TP53 | umls:C0023452 | BeFree | Genetic polymorphisms in the 3'UTR region of the CXCL12 (rs1801157) and TP53 codon 72 (rs1042522) genes may contribute to susceptibility to childhood ALL because they affect some important processes, such as metastasis regulation and tumor suppression. | 0.005157396 | 2013 | CXCL12 | 10 | 44372809 | C | T |
| rs1805087 | 23906019 | 4548 | MTR | umls:C0023452 | BeFree | Association between MTR A2756G polymorphism and childhood acute lymphoblastic leukemia: a meta-analysis. | 0.001628651 | 2015 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 19034339 | 4548 | MTR | umls:C0023452 | BeFree | The aim of this work was to evaluate, in a case-control study, whether the common polymorphisms in 5, 10-methylenetetrahydrofolate reductase (MTHFR) namely (C677T and A1298C) and methionine synthase (MS) (A2756G) genes may play a role in altering susceptibility to pediatric ALL as individual genes and in combination. | 0.001628651 | 2007 | MTR | 1 | 236885200 | A | G |
| rs1805794 | 25746326 | 7298 | TYMS | umls:C0023452 | BeFree | Among the investigated polymorphisms and mutations, NBN Glu185Gln significantly decreased susceptibility to B-cell ALL (p=0.037), while TYMS 3R allele decreased susceptibility to T-cell ALL (p=0.011). | 0.001900093 | 2015 | NBN | 8 | 89978251 | C | G |
| rs2069727 | 21067287 | 3458 | IFNG | umls:C0023452 | BeFree | Likewise, the male-specific protective association of interferon-gamma (IFNG) SNP rs2069727 in MS was replicated with the same sex specificity in childhood ALL (OR = 0.6, 95% CI = 0.4-1.0, Mantel-Haenszel P = 0.03). | 0.000814326 | 2010 | IFNG | 12 | 68154443 | T | C |
| rs207954 | 22076464 | 28232 | SLCO3A1 | umls:C0023452 | GWASCAT | Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia. | 0.12 | 2012 | SLCO3A1 | 15 | 92114143 | T | C |
| rs2089222 | 19684603 | 643246 | MAP1LC3B2 | umls:C0023452 | GWASCAT | Germline genomic variants associated with childhood acute lymphoblastic leukemia. | 0.12 | 2009 | MAP1LC3B2 | 12 | 116564853 | G | A |
| rs2167364 | 22076464 | 1644 | DDC | umls:C0023452 | GWASCAT | Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia. | 0.12 | 2012 | DDC | 7 | 50498129 | T | C |
| rs2191566 | 19684603 | 7773 | ZNF230 | umls:C0023452 | GWASCAT | Germline genomic variants associated with childhood acute lymphoblastic leukemia. | 0.12 | 2009 | ZNF230 | 19 | 44007237 | G | T |
| rs2227956 | 20012387 | 3305 | HSPA1L | umls:C0023452 | BeFree | To systematically evaluate their associations with childhood acute lymphoblastic leukemia (ALL), we examined the three functional single nucleotide polymorphisms (SNPs) rs2227956 (T493M) in HSPA1L, rs1043618 in HSPA1A 5'UTR, and rs1061581 (Q351Q) in HSPA1B by TaqMan assays or polymerase chain reaction-restriction fragment length polymorphism in 114 ALL cases and 414 controls from Wales (UK), in 100 Mexican Mestizo ALL cases and 253 controls belonging to the same ethnic group, and in a panel of 82 HLA-typed reference cell line samples. | 0.000271442 | 2010 | HSPA1L | 6 | 31810495 | G | A |
| rs2227956 | 20012387 | 3303 | HSPA1A | umls:C0023452 | BeFree | To systematically evaluate their associations with childhood acute lymphoblastic leukemia (ALL), we examined the three functional single nucleotide polymorphisms (SNPs) rs2227956 (T493M) in HSPA1L, rs1043618 in HSPA1A 5'UTR, and rs1061581 (Q351Q) in HSPA1B by TaqMan assays or polymerase chain reaction-restriction fragment length polymorphism in 114 ALL cases and 414 controls from Wales (UK), in 100 Mexican Mestizo ALL cases and 253 controls belonging to the same ethnic group, and in a panel of 82 HLA-typed reference cell line samples. | 0.000271442 | 2010 | HSPA1L | 6 | 31810495 | G | A |
| rs2239633 | 25195121 | 1053 | CEBPE | umls:C0023452 | BeFree | This meta-analysis demonstrated that the CEBPE rs2239633 polymorphism was significantly associated with childhood ALL risk. | 0.121357209 | 2014 | CEBPE | 14 | 23119848 | G | A |
| rs2239633 | 19684604 | 1053 | CEBPE | umls:C0023452 | GWASCAT | We identified risk loci for ALL at 7p12.2 (IKZF1, rs4132601, odds ratio (OR) = 1.69, P = 1.20 x 10(-19)), 10q21.2 (ARID5B, rs7089424, OR = 1.65, P = 6.69 x 10(-19)) and 14q11.2 (CEBPE, rs2239633, OR = 1.34, P = 2.88 x 10(-7)). | 0.121357209 | 2009 | CEBPE | 14 | 23119848 | G | A |
| rs2239633 | 22076464 | 1053 | CEBPE | umls:C0023452 | GWASCAT | Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia. | 0.121357209 | 2012 | CEBPE | 14 | 23119848 | G | A |
| rs2239633 | 19684604 | 1053 | CEBPE | umls:C0023452 | BeFree | We identified risk loci for ALL at 7p12.2 (IKZF1, rs4132601, odds ratio (OR) = 1.69, P = 1.20 x 10(-19)), 10q21.2 (ARID5B, rs7089424, OR = 1.65, P = 6.69 x 10(-19)) and 14q11.2 (CEBPE, rs2239633, OR = 1.34, P = 2.88 x 10(-7)). | 0.121357209 | 2009 | CEBPE | 14 | 23119848 | G | A |
| rs2239633 | 19684604 | 10320 | IKZF1 | umls:C0023452 | BeFree | We identified risk loci for ALL at 7p12.2 (IKZF1, rs4132601, odds ratio (OR) = 1.69, P = 1.20 x 10(-19)), 10q21.2 (ARID5B, rs7089424, OR = 1.65, P = 6.69 x 10(-19)) and 14q11.2 (CEBPE, rs2239633, OR = 1.34, P = 2.88 x 10(-7)). | 0.125428837 | 2009 | CEBPE | 14 | 23119848 | G | A |
| rs2282369 | 22941668 | 635 | BHMT | umls:C0023452 | BeFree | For instance, maternal genotypes for BHMT rs558133 (relative risk [RR] = 0.51, 95 % confidence interval [CI]: 0.30-0.87, p = 0.008, Q = 0.08) and MTR rs2282369 (RR = 0.46, 95 % CI: 0.27-0.80, p = 0.004, Q = 0.08) were associated with ALL. | 0.000271442 | 2012 | MTR | 1 | 236891499 | A | G |
| rs2282369 | 22941668 | 4548 | MTR | umls:C0023452 | BeFree | For instance, maternal genotypes for BHMT rs558133 (relative risk [RR] = 0.51, 95 % confidence interval [CI]: 0.30-0.87, p = 0.008, Q = 0.08) and MTR rs2282369 (RR = 0.46, 95 % CI: 0.27-0.80, p = 0.004, Q = 0.08) were associated with ALL. | 0.001628651 | 2012 | MTR | 1 | 236891499 | A | G |
| rs2536 | 21973240 | 2475 | MTOR | umls:C0023452 | BeFree | These results suggest that the mTOR rs2536 polymorphism is involved in the susceptibility to childhood ALL in a Chinese population. | 0.000271442 | 2012 | MTOR | 1 | 11106656 | T | C |
| rs25487 | 20394984 | 1571 | CYP2E1 | umls:C0023452 | BeFree | DNA repair XRCC1 Arg399Gln polymorphism alone, and in combination with CYP2E1 polymorphisms significantly contribute to the risk of development of childhood acute lymphoblastic leukemia. | 0.00554839 | 2010 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 20394984 | 7515 | XRCC1 | umls:C0023452 | BeFree | DNA repair XRCC1 Arg399Gln polymorphism alone, and in combination with CYP2E1 polymorphisms significantly contribute to the risk of development of childhood acute lymphoblastic leukemia. | 0.005081451 | 2010 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 20013659 | 7515 | XRCC1 | umls:C0023452 | BeFree | We examined the influence of the Arg194Trp, Arg280His, and Arg399Gln polymorphisms of XRCC1 (X-ray repair cross-complementing group 1) on the development of childhood acute lymphoblastic leukemia (ALL) in 120 ALL patients and 120 controls in Mexico. | 0.005081451 | 2009 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 22712837 | 7515 | XRCC1 | umls:C0023452 | BeFree | XRCC1 Arg399Gln and Arg194Trp polymorphisms in childhood acute lymphoblastic leukemia risk: a meta-analysis. | 0.005081451 | 2013 | XRCC1 | 19 | 43551574 | T | C |
| rs25489 | 20013659 | 7515 | XRCC1 | umls:C0023452 | BeFree | We examined the influence of the Arg194Trp, Arg280His, and Arg399Gln polymorphisms of XRCC1 (X-ray repair cross-complementing group 1) on the development of childhood acute lymphoblastic leukemia (ALL) in 120 ALL patients and 120 controls in Mexico. | 0.005081451 | 2009 | XRCC1 | 19 | 43552260 | C | T,G |
| rs2735940 | 23066086 | 7015 | TERT | umls:C0023452 | BeFree | Our findings suggested that TERT promoter rs2735940 polymorphism may affect the TERT activity, and rs2736100 may be associated with telomere function, and thus, it is a potential biomarker for genetic susceptibility to ALL in Chinese children. | 0.000542884 | 2013 | TERT | 5 | 1296371 | A | G |
| rs2736100 | 23066086 | 7015 | TERT | umls:C0023452 | BeFree | Our findings suggested that TERT promoter rs2735940 polymorphism may affect the TERT activity, and rs2736100 may be associated with telomere function, and thus, it is a potential biomarker for genetic susceptibility to ALL in Chinese children. | 0.000542884 | 2013 | TERT | 5 | 1286401 | C | A |
| rs2742038 | 24886876 | 3195 | TLX1 | umls:C0023452 | BeFree | Here we show that variant alleles of TLX1_rs2742038 and ETV6_rs1573613 were associated with increased risk of childhood ALL (OR (95% CI) = 3.97 (1.43-11.02) and 1.9 (1.16-3.11), respectively), while PML_rs9479 was associated with decreased ALL risk (OR = 0.55 (0.36-0.86). | 0.000542884 | 2014 | TLX1;TLX1NB | 10 | 101137330 | C | T |
| rs2742038 | 24886876 | 5371 | PML | umls:C0023452 | BeFree | Here we show that variant alleles of TLX1_rs2742038 and ETV6_rs1573613 were associated with increased risk of childhood ALL (OR (95% CI) = 3.97 (1.43-11.02) and 1.9 (1.16-3.11), respectively), while PML_rs9479 was associated with decreased ALL risk (OR = 0.55 (0.36-0.86). | 0.001085767 | 2014 | TLX1;TLX1NB | 10 | 101137330 | C | T |
| rs2742038 | 24886876 | 2120 | ETV6 | umls:C0023452 | BeFree | Here we show that variant alleles of TLX1_rs2742038 and ETV6_rs1573613 were associated with increased risk of childhood ALL (OR (95% CI) = 3.97 (1.43-11.02) and 1.9 (1.16-3.11), respectively), while PML_rs9479 was associated with decreased ALL risk (OR = 0.55 (0.36-0.86). | 0.028425452 | 2014 | TLX1;TLX1NB | 10 | 101137330 | C | T |
| rs2910164 | 23888320 | 574501 | MIR499A | umls:C0023452 | BeFree | Our results for the first time demonstrated that the miR-146a rs2910164, but not miR-499 rs3746444 variant, was associated with increased risk for developing pediatrics ALL in an Iranian population. | 0.000271442 | 2013 | LOC285628;MIR146A | 5 | 160485411 | C | G |
| rs3135388 | 21067287 | 3122 | HLA-DRA | umls:C0023452 | BeFree | We examined the relevance of rs3135388 in childhood ALL risk along with two other HLA-DRA SNPs in two case-control groups: 114 cases and 388 controls from South Wales (UK) and 100 Mexican Mestizo cases and 253 controls. | 0.000271442 | 2010 | HLA-DRA | 6 | 32445274 | A | G |
| rs3217927 | 24743557 | 894 | CCND2 | umls:C0023452 | BeFree | Association between the polymorphism rs3217927 of CCND2 and the risk of childhood acute lymphoblastic leukemia in a Chinese population. | 0.000271442 | 2014 | CCND2 | 12 | 4302638 | G | A |
| rs35947132 | 15921391 | 5551 | PRF1 | umls:C0023452 | BeFree | A single amino acid change A91V in perforin: a novel, frequent predisposing factor to childhood acute lymphoblastic leukemia? | 0.000814326 | 2005 | PRF1 | 10 | 70600631 | G | A |
| rs35947132 | 16791263 | 25 | ABL1 | umls:C0023452 | BeFree | PRF1 A91V frequency was significantly increased in children with BCR-ABL positive ALL (24 vs 8.5%; P=0.0048); however, this observation includes a relatively small number of cases and needs further exploration. | 0.004885954 | 2006 | PRF1 | 10 | 70600631 | G | A |
| rs35947132 | 16791263 | 5551 | PRF1 | umls:C0023452 | BeFree | Perforin polymorphism A91V and susceptibility to B-precursor childhood acute lymphoblastic leukemia: a report from the Children's Oncology Group. | 0.000814326 | 2006 | PRF1 | 10 | 70600631 | G | A |
| rs36228834 | 20617153 | 1029 | CDKN2A | umls:C0023452 | BeFree | We identified putative fetomaternal effects at loci CDKN2A rs36228834 (P = .017) and CDKN2B rs36229158 (P = .022) that modulate the risk of childhood ALL. | 0.007871814 | 2010 | CDKN2A | 9 | 21975320 | T | A |
| rs36228834 | 20617153 | 1030 | CDKN2B | umls:C0023452 | BeFree | We identified putative fetomaternal effects at loci CDKN2A rs36228834 (P = .017) and CDKN2B rs36229158 (P = .022) that modulate the risk of childhood ALL. | 0.004071628 | 2010 | CDKN2A | 9 | 21975320 | T | A |
| rs36229158 | 20617153 | 1030 | CDKN2B | umls:C0023452 | BeFree | We identified putative fetomaternal effects at loci CDKN2A rs36228834 (P = .017) and CDKN2B rs36229158 (P = .022) that modulate the risk of childhood ALL. | 0.004071628 | 2010 | CDKN2B;CDKN2B-AS1 | 9 | 22010682 | G | A |
| rs36229158 | 20617153 | 1029 | CDKN2A | umls:C0023452 | BeFree | We identified putative fetomaternal effects at loci CDKN2A rs36228834 (P = .017) and CDKN2B rs36229158 (P = .022) that modulate the risk of childhood ALL. | 0.007871814 | 2010 | CDKN2B;CDKN2B-AS1 | 9 | 22010682 | G | A |
| rs368647662 | 15967214 | 7296 | TXNRD1 | umls:C0023452 | BeFree | Further, at least two studies now show that the inactivating NAD(P)H:quinone acceptor oxidoreductase (NQO1) C609T polymorphism is positively associated with leukemias arising in the first 1-2 years of life and polymorphisms in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene have been associated with adult and childhood ALL. | 0.000271442 | 2005 | TXNRD1 | 12 | 104265777 | C | T |
| rs368647662 | 15967214 | 1728 | NQO1 | umls:C0023452 | BeFree | Further, at least two studies now show that the inactivating NAD(P)H:quinone acceptor oxidoreductase (NQO1) C609T polymorphism is positively associated with leukemias arising in the first 1-2 years of life and polymorphisms in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene have been associated with adult and childhood ALL. | 0.011096779 | 2005 | TXNRD1 | 12 | 104265777 | C | T |
| rs368647662 | 15967214 | 4524 | MTHFR | umls:C0023452 | BeFree | Further, at least two studies now show that the inactivating NAD(P)H:quinone acceptor oxidoreductase (NQO1) C609T polymorphism is positively associated with leukemias arising in the first 1-2 years of life and polymorphisms in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene have been associated with adult and childhood ALL. | 0.030532311 | 2005 | TXNRD1 | 12 | 104265777 | C | T |
| rs3746444 | 23888320 | 574501 | MIR499A | umls:C0023452 | BeFree | Our results for the first time demonstrated that the miR-146a rs2910164, but not miR-499 rs3746444 variant, was associated with increased risk for developing pediatrics ALL in an Iranian population. | 0.000271442 | 2013 | MYH7B;MIR499A;MIR499B | 20 | 34990448 | A | G |
| rs3776455 | 23940529 | 4552 | MTRR | umls:C0023452 | BeFree | The GG genotype of the rs3776455 SNP in the MTRR gene was associated with a significantly reduced risk to ALL (p = 1.21×10(-3); OR = 0.55), which resulted mainly from the reduced risk to B-cell and hyperdiploid-ALL. | 0.001085767 | 2013 | MTRR | 5 | 7896398 | C | T |
| rs3776932 | 20189245 | 4124 | MAN2A1 | umls:C0023452 | BeFree | Of these 1 million SNPs, six SNPs in 4 genes (HAO1 rs6140264, EPB41L2 rs9388856, rs9388857, rs1360756, C2orf3 12105972, MAN2A1 rs3776932) were strongly associated with childhood ALL risk (P(dominant)<or=0.0001 and P(trend)<0.006). | 0.000271442 | 2010 | MAN2A1 | 5 | 109850287 | T | G |
| rs3776932 | 20189245 | 6936 | GCFC2 | umls:C0023452 | BeFree | Of these 1 million SNPs, six SNPs in 4 genes (HAO1 rs6140264, EPB41L2 rs9388856, rs9388857, rs1360756, C2orf3 12105972, MAN2A1 rs3776932) were strongly associated with childhood ALL risk (P(dominant)<or=0.0001 and P(trend)<0.006). | 0.000271442 | 2010 | MAN2A1 | 5 | 109850287 | T | G |
| rs3817672 | 25085015 | 164656 | TMPRSS6 | umls:C0023452 | BeFree | Using a multi-ethnic sample of cases and controls from Houston, TX, we examined two HFE variants (rs1800562 and rs1799945), one transferrin receptor gene (TFRC) variant (rs3817672) and three additional iron regulatory gene (IRG) variants (SLC11A2 rs422982; TMPRSS6 rs855791 and rs733655) for their associations with childhood ALL. | 0.000271442 | 2014 | TFRC | 3 | 196073940 | C | T |
| rs3817672 | 25085015 | 4891 | SLC11A2 | umls:C0023452 | BeFree | Using a multi-ethnic sample of cases and controls from Houston, TX, we examined two HFE variants (rs1800562 and rs1799945), one transferrin receptor gene (TFRC) variant (rs3817672) and three additional iron regulatory gene (IRG) variants (SLC11A2 rs422982; TMPRSS6 rs855791 and rs733655) for their associations with childhood ALL. | 0.000271442 | 2014 | TFRC | 3 | 196073940 | C | T |
| rs3817672 | 25085015 | 7037 | TFRC | umls:C0023452 | BeFree | Using a multi-ethnic sample of cases and controls from Houston, TX, we examined two HFE variants (rs1800562 and rs1799945), one transferrin receptor gene (TFRC) variant (rs3817672) and three additional iron regulatory gene (IRG) variants (SLC11A2 rs422982; TMPRSS6 rs855791 and rs733655) for their associations with childhood ALL. | 0.000271442 | 2014 | TFRC | 3 | 196073940 | C | T |
| rs3824662 | 24141364 | 64109 | CRLF2 | umls:C0023452 | BeFree | The rs3824662 risk allele was associated with somatic lesions underlying Ph-like ALL (CRLF2 rearrangement, JAK gene mutation and IKZF1 deletion) and with variation in GATA3 expression. | 0.001085767 | 2013 | GATA3 | 10 | 8062245 | C | A |
| rs3824662 | 24141364 | 10320 | IKZF1 | umls:C0023452 | BeFree | The rs3824662 risk allele was associated with somatic lesions underlying Ph-like ALL (CRLF2 rearrangement, JAK gene mutation and IKZF1 deletion) and with variation in GATA3 expression. | 0.125428837 | 2013 | GATA3 | 10 | 8062245 | C | A |
| rs386493716 | 20013659 | 7515 | XRCC1 | umls:C0023452 | BeFree | We examined the influence of the Arg194Trp, Arg280His, and Arg399Gln polymorphisms of XRCC1 (X-ray repair cross-complementing group 1) on the development of childhood acute lymphoblastic leukemia (ALL) in 120 ALL patients and 120 controls in Mexico. | 0.005081451 | 2009 | NA | NA | NA | NA | NA |
| rs386493716 | 22712837 | 7515 | XRCC1 | umls:C0023452 | BeFree | XRCC1 Arg399Gln and Arg194Trp polymorphisms in childhood acute lymphoblastic leukemia risk: a meta-analysis. | 0.005081451 | 2013 | NA | NA | NA | NA | NA |
| rs386493716 | 20394984 | 1571 | CYP2E1 | umls:C0023452 | BeFree | DNA repair XRCC1 Arg399Gln polymorphism alone, and in combination with CYP2E1 polymorphisms significantly contribute to the risk of development of childhood acute lymphoblastic leukemia. | 0.00554839 | 2010 | NA | NA | NA | NA | NA |
| rs386493716 | 20394984 | 7515 | XRCC1 | umls:C0023452 | BeFree | DNA repair XRCC1 Arg399Gln polymorphism alone, and in combination with CYP2E1 polymorphisms significantly contribute to the risk of development of childhood acute lymphoblastic leukemia. | 0.005081451 | 2010 | NA | NA | NA | NA | NA |
| rs386514057 | 24597986 | 6573 | SLC19A1 | umls:C0023452 | BeFree | In conclusion, the RFC1 G80A polymorphism does not seem to be a good marker of MTX-related toxicity in pediatric ALL. | 0.001085767 | 2015 | NA | NA | NA | NA | NA |
| rs386545546 | 20013659 | 7515 | XRCC1 | umls:C0023452 | BeFree | We examined the influence of the Arg194Trp, Arg280His, and Arg399Gln polymorphisms of XRCC1 (X-ray repair cross-complementing group 1) on the development of childhood acute lymphoblastic leukemia (ALL) in 120 ALL patients and 120 controls in Mexico. | 0.005081451 | 2009 | NA | NA | NA | NA | NA |
| rs386545546 | 22712837 | 7515 | XRCC1 | umls:C0023452 | BeFree | XRCC1 Arg399Gln and Arg194Trp polymorphisms in childhood acute lymphoblastic leukemia risk: a meta-analysis. | 0.005081451 | 2013 | NA | NA | NA | NA | NA |
| rs3918186 | 24367687 | 6573 | SLC19A1 | umls:C0023452 | BeFree | There was evidence that the minor alleles of NOS3 rs3918186 (OR = 2.16; 95% CI: 1.51-3.15) and SLC19A1 rs1051266 (OR = 2.07; 95% CI: 1.25-3.46) were positively associated with childhood ALL. | 0.001085767 | 2013 | NOS3 | 7 | 151005344 | A | T |
| rs3942852 | 22076464 | 5795 | PTPRJ | umls:C0023452 | GWASCAT | Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia. | 0.12 | 2012 | PTPRJ | 11 | 48093537 | C | T |
| rs397507444 | 16096524 | 4524 | MTHFR | umls:C0023452 | BeFree | The MTHFR C677T and A1298C polymorphisms and susceptibility to childhood acute lymphoblastic leukemia in Portugal. | 0.030532311 | 2005 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 21495160 | 4524 | MTHFR | umls:C0023452 | BeFree | These results suggest that the MTHFR C677T, but not A1298C, polymorphism is a potential biomarker for childhood ALL risk. | 0.030532311 | 2012 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 11736945 | 4524 | MTHFR | umls:C0023452 | BeFree | In conclusion, MTHFR C677T was linked to a significant 2.4-fold decreased risk of developing childhood ALL, whereas MTHFR A1298C did not significantly affect the risk of ALL in our population. | 0.030532311 | 2001 | MTHFR | 1 | 11794407 | T | G |
| rs4132601 | 19684604 | 10320 | IKZF1 | umls:C0023452 | GWASCAT | We identified risk loci for ALL at 7p12.2 (IKZF1, rs4132601, odds ratio (OR) = 1.69, P = 1.20 x 10(-19)), 10q21.2 (ARID5B, rs7089424, OR = 1.65, P = 6.69 x 10(-19)) and 14q11.2 (CEBPE, rs2239633, OR = 1.34, P = 2.88 x 10(-7)). | 0.125428837 | 2009 | IKZF1 | 7 | 50402906 | T | G |
| rs4132601 | 19684604 | 1053 | CEBPE | umls:C0023452 | BeFree | We identified risk loci for ALL at 7p12.2 (IKZF1, rs4132601, odds ratio (OR) = 1.69, P = 1.20 x 10(-19)), 10q21.2 (ARID5B, rs7089424, OR = 1.65, P = 6.69 x 10(-19)) and 14q11.2 (CEBPE, rs2239633, OR = 1.34, P = 2.88 x 10(-7)). | 0.121357209 | 2009 | IKZF1 | 7 | 50402906 | T | G |
| rs4132601 | 22076464 | 10320 | IKZF1 | umls:C0023452 | GWASCAT | Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia. | 0.125428837 | 2012 | IKZF1 | 7 | 50402906 | T | G |
| rs4132601 | 19684604 | 10320 | IKZF1 | umls:C0023452 | BeFree | We identified risk loci for ALL at 7p12.2 (IKZF1, rs4132601, odds ratio (OR) = 1.69, P = 1.20 x 10(-19)), 10q21.2 (ARID5B, rs7089424, OR = 1.65, P = 6.69 x 10(-19)) and 14q11.2 (CEBPE, rs2239633, OR = 1.34, P = 2.88 x 10(-7)). | 0.125428837 | 2009 | IKZF1 | 7 | 50402906 | T | G |
| rs422982 | 25085015 | 4891 | SLC11A2 | umls:C0023452 | BeFree | Using a multi-ethnic sample of cases and controls from Houston, TX, we examined two HFE variants (rs1800562 and rs1799945), one transferrin receptor gene (TFRC) variant (rs3817672) and three additional iron regulatory gene (IRG) variants (SLC11A2 rs422982; TMPRSS6 rs855791 and rs733655) for their associations with childhood ALL. | 0.000271442 | 2014 | SLC11A2 | 12 | 51012571 | T | A |
| rs422982 | 25085015 | 164656 | TMPRSS6 | umls:C0023452 | BeFree | Using a multi-ethnic sample of cases and controls from Houston, TX, we examined two HFE variants (rs1800562 and rs1799945), one transferrin receptor gene (TFRC) variant (rs3817672) and three additional iron regulatory gene (IRG) variants (SLC11A2 rs422982; TMPRSS6 rs855791 and rs733655) for their associations with childhood ALL. | 0.000271442 | 2014 | SLC11A2 | 12 | 51012571 | T | A |
| rs422982 | 25085015 | 7037 | TFRC | umls:C0023452 | BeFree | Using a multi-ethnic sample of cases and controls from Houston, TX, we examined two HFE variants (rs1800562 and rs1799945), one transferrin receptor gene (TFRC) variant (rs3817672) and three additional iron regulatory gene (IRG) variants (SLC11A2 rs422982; TMPRSS6 rs855791 and rs733655) for their associations with childhood ALL. | 0.000271442 | 2014 | SLC11A2 | 12 | 51012571 | T | A |
| rs4245595 | 25310577 | 84159 | ARID5B | umls:C0023452 | GWASCAT | Confirmation of childhood acute lymphoblastic leukemia variants, ARID5B and IKZF1, and interaction with parental environmental exposures. | 0.12434307 | 2014 | ARID5B | 10 | 61963136 | C | T |
| rs4946936 | 25060657 | 2309 | FOXO3 | umls:C0023452 | BeFree | Association of the 3'UTR FOXO3a polymorphism rs4946936 with an increased risk of childhood acute lymphoblastic leukemia in a Chinese population. | 0.000271442 | 2014 | FOXO3 | 6 | 108682118 | T | C |
| rs558133 | 22941668 | 4548 | MTR | umls:C0023452 | BeFree | For instance, maternal genotypes for BHMT rs558133 (relative risk [RR] = 0.51, 95 % confidence interval [CI]: 0.30-0.87, p = 0.008, Q = 0.08) and MTR rs2282369 (RR = 0.46, 95 % CI: 0.27-0.80, p = 0.004, Q = 0.08) were associated with ALL. | 0.001628651 | 2012 | BHMT | 5 | 79129365 | C | A |
| rs558133 | 22941668 | 635 | BHMT | umls:C0023452 | BeFree | For instance, maternal genotypes for BHMT rs558133 (relative risk [RR] = 0.51, 95 % confidence interval [CI]: 0.30-0.87, p = 0.008, Q = 0.08) and MTR rs2282369 (RR = 0.46, 95 % CI: 0.27-0.80, p = 0.004, Q = 0.08) were associated with ALL. | 0.000271442 | 2012 | BHMT | 5 | 79129365 | C | A |
| rs6140264 | 20189245 | 6936 | GCFC2 | umls:C0023452 | BeFree | Of these 1 million SNPs, six SNPs in 4 genes (HAO1 rs6140264, EPB41L2 rs9388856, rs9388857, rs1360756, C2orf3 12105972, MAN2A1 rs3776932) were strongly associated with childhood ALL risk (P(dominant)<or=0.0001 and P(trend)<0.006). | 0.000271442 | 2010 | NA | 20 | 7395707 | G | A |
| rs6140264 | 20189245 | 4124 | MAN2A1 | umls:C0023452 | BeFree | Of these 1 million SNPs, six SNPs in 4 genes (HAO1 rs6140264, EPB41L2 rs9388856, rs9388857, rs1360756, C2orf3 12105972, MAN2A1 rs3776932) were strongly associated with childhood ALL risk (P(dominant)<or=0.0001 and P(trend)<0.006). | 0.000271442 | 2010 | NA | 20 | 7395707 | G | A |
| rs61754966 | 24830725 | 4683 | NBN | umls:C0023452 | BeFree | A rare polymorphic variant of NBS1 that resulted in an isoleucine to valine substitution at amino acid position 171 (I171V) was first identified in childhood acute lymphoblastic leukemia. | 0.001357209 | 2014 | NBN | 8 | 89978293 | T | C |
| rs61754966 | 24093751 | 4683 | NBN | umls:C0023452 | BeFree | In our previous study we showed that the germline p.I171V mutation in NBN may be considered as a risk factor in the development of childhood acute lymphoblastic leukemia (ALL) and some specific haplotypes of that gene may be associated with childhood leukemia. | 0.001357209 | 2013 | NBN | 8 | 89978293 | T | C |
| rs6195 | 23355259 | 2908 | NR3C1 | umls:C0023452 | BeFree | The glucocorticoid receptor gene polymorphism N363S predisposes to more severe toxic side effects during pediatric acute lymphoblastic leukemia (ALL) therapy. | 0.003800186 | 2013 | NA | NA | NA | NA | NA |
| rs6195 | 21497906 | 2908 | NR3C1 | umls:C0023452 | BeFree | The aim of this study was to evaluate the possible association between 3 prominent glucocorticoid receptor gene polymorphisms-BclI, N363S, and ER22/23EK-and the risk of relapse in children with ALL. | 0.003800186 | 2011 | NA | NA | NA | NA | NA |
| rs6964969 | 23512250 | 10320 | IKZF1 | umls:C0023452 | GWASCAT | Novel susceptibility variants at 10p12.31-12.2 for childhood acute lymphoblastic leukemia in ethnically diverse populations. | 0.125428837 | 2013 | IKZF1 | 7 | 50405553 | A | G |
| rs7089424 | 19684604 | 84159 | ARID5B | umls:C0023452 | GWASCAT | The 10q21.2 (ARID5B) risk association appears to be selective for the subset of B-cell precursor ALL with hyperdiploidy. | 0.12434307 | 2009 | ARID5B | 10 | 61992400 | T | G |
| rs7089424 | 19684604 | 10320 | IKZF1 | umls:C0023452 | BeFree | We identified risk loci for ALL at 7p12.2 (IKZF1, rs4132601, odds ratio (OR) = 1.69, P = 1.20 x 10(-19)), 10q21.2 (ARID5B, rs7089424, OR = 1.65, P = 6.69 x 10(-19)) and 14q11.2 (CEBPE, rs2239633, OR = 1.34, P = 2.88 x 10(-7)). | 0.125428837 | 2009 | ARID5B | 10 | 61992400 | T | G |
| rs7089424 | 19684604 | 1053 | CEBPE | umls:C0023452 | BeFree | We identified risk loci for ALL at 7p12.2 (IKZF1, rs4132601, odds ratio (OR) = 1.69, P = 1.20 x 10(-19)), 10q21.2 (ARID5B, rs7089424, OR = 1.65, P = 6.69 x 10(-19)) and 14q11.2 (CEBPE, rs2239633, OR = 1.34, P = 2.88 x 10(-7)). | 0.121357209 | 2009 | ARID5B | 10 | 61992400 | T | G |
| rs7142143 | 23007406 | 5836 | PYGL | umls:C0023452 | GWASCAT | Genome-wide association study identifies germline polymorphisms associated with relapse of childhood acute lymphoblastic leukemia. | 0.12 | 2012 | PYGL | 14 | 50936813 | T | C |
| rs733655 | 25085015 | 164656 | TMPRSS6 | umls:C0023452 | BeFree | Using a multi-ethnic sample of cases and controls from Houston, TX, we examined two HFE variants (rs1800562 and rs1799945), one transferrin receptor gene (TFRC) variant (rs3817672) and three additional iron regulatory gene (IRG) variants (SLC11A2 rs422982; TMPRSS6 rs855791 and rs733655) for their associations with childhood ALL. | 0.000271442 | 2014 | TMPRSS6 | 22 | 37099011 | T | C |
| rs733655 | 25085015 | 7037 | TFRC | umls:C0023452 | BeFree | Using a multi-ethnic sample of cases and controls from Houston, TX, we examined two HFE variants (rs1800562 and rs1799945), one transferrin receptor gene (TFRC) variant (rs3817672) and three additional iron regulatory gene (IRG) variants (SLC11A2 rs422982; TMPRSS6 rs855791 and rs733655) for their associations with childhood ALL. | 0.000271442 | 2014 | TMPRSS6 | 22 | 37099011 | T | C |
| rs733655 | 25085015 | 4891 | SLC11A2 | umls:C0023452 | BeFree | Using a multi-ethnic sample of cases and controls from Houston, TX, we examined two HFE variants (rs1800562 and rs1799945), one transferrin receptor gene (TFRC) variant (rs3817672) and three additional iron regulatory gene (IRG) variants (SLC11A2 rs422982; TMPRSS6 rs855791 and rs733655) for their associations with childhood ALL. | 0.000271442 | 2014 | TMPRSS6 | 22 | 37099011 | T | C |
| rs855791 | 25085015 | 4891 | SLC11A2 | umls:C0023452 | BeFree | Using a multi-ethnic sample of cases and controls from Houston, TX, we examined two HFE variants (rs1800562 and rs1799945), one transferrin receptor gene (TFRC) variant (rs3817672) and three additional iron regulatory gene (IRG) variants (SLC11A2 rs422982; TMPRSS6 rs855791 and rs733655) for their associations with childhood ALL. | 0.000271442 | 2014 | TMPRSS6 | 22 | 37066896 | A | T,G |
| rs855791 | 25085015 | 7037 | TFRC | umls:C0023452 | BeFree | Using a multi-ethnic sample of cases and controls from Houston, TX, we examined two HFE variants (rs1800562 and rs1799945), one transferrin receptor gene (TFRC) variant (rs3817672) and three additional iron regulatory gene (IRG) variants (SLC11A2 rs422982; TMPRSS6 rs855791 and rs733655) for their associations with childhood ALL. | 0.000271442 | 2014 | TMPRSS6 | 22 | 37066896 | A | T,G |
| rs855791 | 25085015 | 164656 | TMPRSS6 | umls:C0023452 | BeFree | Using a multi-ethnic sample of cases and controls from Houston, TX, we examined two HFE variants (rs1800562 and rs1799945), one transferrin receptor gene (TFRC) variant (rs3817672) and three additional iron regulatory gene (IRG) variants (SLC11A2 rs422982; TMPRSS6 rs855791 and rs733655) for their associations with childhood ALL. | 0.000271442 | 2014 | TMPRSS6 | 22 | 37066896 | A | T,G |
| rs936094 | 22076464 | 59350 | RXFP1 | umls:C0023452 | GWASCAT | Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia. | 0.12 | 2012 | RXFP1 | 4 | 158523162 | T | C |
| rs9388856 | 20189245 | 4124 | MAN2A1 | umls:C0023452 | BeFree | Of these 1 million SNPs, six SNPs in 4 genes (HAO1 rs6140264, EPB41L2 rs9388856, rs9388857, rs1360756, C2orf3 12105972, MAN2A1 rs3776932) were strongly associated with childhood ALL risk (P(dominant)<or=0.0001 and P(trend)<0.006). | 0.000271442 | 2010 | EPB41L2;SMLR1 | 6 | 130827723 | A | T |
| rs9388856 | 20189245 | 6936 | GCFC2 | umls:C0023452 | BeFree | Of these 1 million SNPs, six SNPs in 4 genes (HAO1 rs6140264, EPB41L2 rs9388856, rs9388857, rs1360756, C2orf3 12105972, MAN2A1 rs3776932) were strongly associated with childhood ALL risk (P(dominant)<or=0.0001 and P(trend)<0.006). | 0.000271442 | 2010 | EPB41L2;SMLR1 | 6 | 130827723 | A | T |
| rs9388857 | 20189245 | 4124 | MAN2A1 | umls:C0023452 | BeFree | Of these 1 million SNPs, six SNPs in 4 genes (HAO1 rs6140264, EPB41L2 rs9388856, rs9388857, rs1360756, C2orf3 12105972, MAN2A1 rs3776932) were strongly associated with childhood ALL risk (P(dominant)<or=0.0001 and P(trend)<0.006). | 0.000271442 | 2010 | EPB41L2;SMLR1 | 6 | 130828738 | T | G |
| rs9388857 | 20189245 | 6936 | GCFC2 | umls:C0023452 | BeFree | Of these 1 million SNPs, six SNPs in 4 genes (HAO1 rs6140264, EPB41L2 rs9388856, rs9388857, rs1360756, C2orf3 12105972, MAN2A1 rs3776932) were strongly associated with childhood ALL risk (P(dominant)<or=0.0001 and P(trend)<0.006). | 0.000271442 | 2010 | EPB41L2;SMLR1 | 6 | 130828738 | T | G |
| rs9479 | 24886876 | 2120 | ETV6 | umls:C0023452 | BeFree | Here we show that variant alleles of TLX1_rs2742038 and ETV6_rs1573613 were associated with increased risk of childhood ALL (OR (95% CI) = 3.97 (1.43-11.02) and 1.9 (1.16-3.11), respectively), while PML_rs9479 was associated with decreased ALL risk (OR = 0.55 (0.36-0.86). | 0.028425452 | 2014 | PML | 15 | 74036235 | A | G |
| rs9479 | 24886876 | 5371 | PML | umls:C0023452 | BeFree | Here we show that variant alleles of TLX1_rs2742038 and ETV6_rs1573613 were associated with increased risk of childhood ALL (OR (95% CI) = 3.97 (1.43-11.02) and 1.9 (1.16-3.11), respectively), while PML_rs9479 was associated with decreased ALL risk (OR = 0.55 (0.36-0.86). | 0.001085767 | 2014 | PML | 15 | 74036235 | A | G |
| rs9479 | 24886876 | 3195 | TLX1 | umls:C0023452 | BeFree | Here we show that variant alleles of TLX1_rs2742038 and ETV6_rs1573613 were associated with increased risk of childhood ALL (OR (95% CI) = 3.97 (1.43-11.02) and 1.9 (1.16-3.11), respectively), while PML_rs9479 was associated with decreased ALL risk (OR = 0.55 (0.36-0.86). | 0.000542884 | 2014 | PML | 15 | 74036235 | A | G |
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:0) | |
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FDA approved drug and dosage information(Total Drugs:0) | |
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FDA labeling changes(Total Drugs:0) | |
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