TPMT, thiopurine S-methyltransferase, 7172

N. diseases: 83; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800462
rs1800462
Entrez Id: 7172
Gene Symbol: TPMT
TPMT
CUI: C0023449
Disease:
Acute lymphocytic leukemia 		0.010 GeneticVariation BEFREE In this work, we conduct a case-control study to assess the impact of CYP1A1*2A (CYP1A1 T6235C); NQO1*2 (NQO1 C609T); TPMT*2 (TPMT G238C) and TPMT A719G polymorphisms on the risk of developing ALL. 23065291 2013
dbSNP: rs1800462
rs1800462
Entrez Id: 7172
Gene Symbol: TPMT
TPMT
CUI: C0751606
Disease:
Adult Acute Lymphocytic Leukemia 		0.010 GeneticVariation BEFREE In this work, we conduct a case-control study to assess the impact of CYP1A1*2A (CYP1A1 T6235C); NQO1*2 (NQO1 C609T); TPMT*2 (TPMT G238C) and TPMT A719G polymorphisms on the risk of developing ALL. 23065291 2013
dbSNP: rs1800460
rs1800460
Entrez Id: 7172
Gene Symbol: TPMT
TPMT
CUI: C0021390
Disease:
Inflammatory Bowel Diseases 		0.010 GeneticVariation BEFREE Fifty-one consecutive out-patients with IBD were genotyped for the following allelic variants: rs1800462 (referred as TPMT 2 allele), rs1800460 (referred as TPMT 3B allele), and 1142345 (referred as TPMT 3C allele). 22385887 2012
dbSNP: rs1800462
rs1800462
Entrez Id: 7172
Gene Symbol: TPMT
TPMT
CUI: C0021390
Disease:
Inflammatory Bowel Diseases 		0.010 GeneticVariation BEFREE Fifty-one consecutive out-patients with IBD were genotyped for the following allelic variants: rs1800462 (referred as TPMT 2 allele), rs1800460 (referred as TPMT 3B allele), and 1142345 (referred as TPMT 3C allele). 22385887 2012
dbSNP: rs143125661
rs143125661
Entrez Id: 7172
Gene Symbol: TPMT
TPMT
CUI: C0751606
Disease:
Adult Acute Lymphocytic Leukemia 		0.010 GeneticVariation BEFREE Sixteen single nucleotide polymorphisms (SNPs) (CYP3A4*1B A>G, CYP3A5*3 G>A, GSTP1 313 A>G, GSTM1 deletion, GSTT1 deletion, MDR1 exon 21 G>T/A, MDR1 exon 26 C>T, MTHFR 677 C>T, MTHFR 1298 A>C, NR3C1 1088 A>G, RFC 80 G>A, TPMT 238 G>C, TPMT 460 G>A, TPMT 719 A>G, VDR intron 8 G>A, VDR FokI T>C) that have been implicated in the pharmacogenetics of ALL therapy were analyzed by TotalPlex amplification and SNP genotyping. 18385010 2008
dbSNP: rs143125661
rs143125661
Entrez Id: 7172
Gene Symbol: TPMT
TPMT
CUI: C0023452
Disease:
Childhood Acute Lymphoblastic Leukemia 		0.010 GeneticVariation BEFREE Sixteen single nucleotide polymorphisms (SNPs) (CYP3A4*1B A>G, CYP3A5*3 G>A, GSTP1 313 A>G, GSTM1 deletion, GSTT1 deletion, MDR1 exon 21 G>T/A, MDR1 exon 26 C>T, MTHFR 677 C>T, MTHFR 1298 A>C, NR3C1 1088 A>G, RFC 80 G>A, TPMT 238 G>C, TPMT 460 G>A, TPMT 719 A>G, VDR intron 8 G>A, VDR FokI T>C) that have been implicated in the pharmacogenetics of ALL therapy were analyzed by TotalPlex amplification and SNP genotyping. 18385010 2008
dbSNP: rs143125661
rs143125661
Entrez Id: 7172
Gene Symbol: TPMT
TPMT
CUI: C0023449
Disease:
Acute lymphocytic leukemia 		0.010 GeneticVariation BEFREE Sixteen single nucleotide polymorphisms (SNPs) (CYP3A4*1B A>G, CYP3A5*3 G>A, GSTP1 313 A>G, GSTM1 deletion, GSTT1 deletion, MDR1 exon 21 G>T/A, MDR1 exon 26 C>T, MTHFR 677 C>T, MTHFR 1298 A>C, NR3C1 1088 A>G, RFC 80 G>A, TPMT 238 G>C, TPMT 460 G>A, TPMT 719 A>G, VDR intron 8 G>A, VDR FokI T>C) that have been implicated in the pharmacogenetics of ALL therapy were analyzed by TotalPlex amplification and SNP genotyping. 18385010 2008
dbSNP: rs1142345
rs1142345
Entrez Id: 7172
Gene Symbol: TPMT
TPMT
CUI: C0009324
Disease:
Ulcerative Colitis 		0.010 GeneticVariation BEFREE ITPA(94C>A, IVS2+21A>C) and TPMT (238G>C, 460G>A, and 719A>G) genotypes were assessed in 262 IBD patients (159 females, 103 males; 67 patients with ulcerative colitis, 195 patients with Crohn's disease) treated with AZA and were correlated with the development of leukopenia and hepatotoxicity. 16431304 2006
dbSNP: rs1142345
rs1142345
Entrez Id: 7172
Gene Symbol: TPMT
TPMT
CUI: C0021390
Disease:
Inflammatory Bowel Diseases 		0.010 GeneticVariation BEFREE ITPA(94C>A, IVS2+21A>C) and TPMT (238G>C, 460G>A, and 719A>G) genotypes were assessed in 262 IBD patients (159 females, 103 males; 67 patients with ulcerative colitis, 195 patients with Crohn's disease) treated with AZA and were correlated with the development of leukopenia and hepatotoxicity. 16431304 2006
dbSNP: rs1142345
rs1142345
Entrez Id: 7172
Gene Symbol: TPMT
TPMT
CUI: C0023530
Disease:
Leukopenia 		0.010 GeneticVariation BEFREE ITPA(94C>A, IVS2+21A>C) and TPMT (238G>C, 460G>A, and 719A>G) genotypes were assessed in 262 IBD patients (159 females, 103 males; 67 patients with ulcerative colitis, 195 patients with Crohn's disease) treated with AZA and were correlated with the development of leukopenia and hepatotoxicity. 16431304 2006
dbSNP: rs1142345
rs1142345
Entrez Id: 7172
Gene Symbol: TPMT
TPMT
CUI: C0010346
Disease:
Crohn Disease 		0.010 GeneticVariation BEFREE ITPA(94C>A, IVS2+21A>C) and TPMT (238G>C, 460G>A, and 719A>G) genotypes were assessed in 262 IBD patients (159 females, 103 males; 67 patients with ulcerative colitis, 195 patients with Crohn's disease) treated with AZA and were correlated with the development of leukopenia and hepatotoxicity. 16431304 2006
dbSNP: rs1800460
rs1800460
Entrez Id: 7172
Gene Symbol: TPMT
TPMT
CUI: C0342801
Disease:
Thiopurine S methyltranferase deficiency 		0.010 GeneticVariation BEFREE The mutant alleles TPMT*2 (238G>C), TPMT*3A (460G>A, 719A>G), TPMT*3B (460G>A), and TPMT*3C (719A>G) account for 80-95% of TPMT deficiency observed in Caucasian populations. 14967158 2004