MGMT, O-6-methylguanine-DNA methyltransferase, 4255

N. diseases: 444; N. variants: 24
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12268840
rs12268840
Entrez Id: 4255
Gene Symbol: MGMT
MGMT
CUI: C1275122
Disease:
Familial multiple trichoepitheliomata
0.010 GeneticVariation BEFREE Homozygous carriers of MGMT rs12268840 with frequent acid reflux had significantly higher risks of EAC (OR 15.5, 95% CI 5.8-42) than expected under an additive model, consistent with biological interaction (S = 3.3, 95% CI 1.1-10). 18386788 2008
dbSNP: rs12268840
rs12268840
Entrez Id: 4255
Gene Symbol: MGMT
MGMT
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE There was no evidence of an association between rs12268840 and lung cancer risk. 17957803 2008
dbSNP: rs12268840
rs12268840
Entrez Id: 4255
Gene Symbol: MGMT
MGMT
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE There was no evidence of an association between rs12268840 and lung cancer risk. 17957803 2008
dbSNP: rs12268840
rs12268840
Entrez Id: 4255
Gene Symbol: MGMT
MGMT
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE There was no evidence of an association between rs12268840 and lung cancer risk. 17957803 2008
dbSNP: rs12268840
rs12268840
Entrez Id: 4255
Gene Symbol: MGMT
MGMT
CUI: C0017168
Disease:
Gastroesophageal reflux disease
0.010 GeneticVariation BEFREE Homozygous carriers of MGMT rs12268840 with frequent acid reflux had significantly higher risks of EAC (OR 15.5, 95% CI 5.8-42) than expected under an additive model, consistent with biological interaction (S = 3.3, 95% CI 1.1-10). 18386788 2008
dbSNP: rs12269324
rs12269324
Entrez Id: 4255
Gene Symbol: MGMT
MGMT
CUI: C1275122
Disease:
Familial multiple trichoepitheliomata
0.010 GeneticVariation BEFREE We compared patients with EAC (n = 263) or EGJAC (n = 303) with matched population controls (n = 1,337) for the frequency of 5 MGMT single nucleotide polymorphisms (SNPs) (rs12269324, rs12268840, L84F, I143V, K178R), as well as SNPs in DNA repair genes ERCC1 (N118N), XRCC1 (Q399R) and XPD (K751Q). 18386788 2008
dbSNP: rs12917
rs12917
Entrez Id: 4255;105378560
Gene Symbol: MGMT;LOC105378560
MGMT;LOC105378560
CUI: C0750952
Disease:
Biliary Tract Cancer
0.010 GeneticVariation BEFREE Of the five single nucleotide polymorphisms examined, only one (MGMT EX5-25C>T, rs12917) was associated with biliary tract cancer. 18708406 2008
dbSNP: rs12917
rs12917
Entrez Id: 4255;105378560
Gene Symbol: MGMT;LOC105378560
MGMT;LOC105378560
CUI: C1275122
Disease:
Familial multiple trichoepitheliomata
0.010 GeneticVariation BEFREE We compared patients with EAC (n = 263) or EGJAC (n = 303) with matched population controls (n = 1,337) for the frequency of 5 MGMT single nucleotide polymorphisms (SNPs) (rs12269324, rs12268840, L84F, I143V, K178R), as well as SNPs in DNA repair genes ERCC1 (N118N), XRCC1 (Q399R) and XPD (K751Q). 18386788 2008
dbSNP: rs2308321
rs2308321
Entrez Id: 4255
Gene Symbol: MGMT
MGMT
CUI: C1275122
Disease:
Familial multiple trichoepitheliomata
0.010 GeneticVariation BEFREE Potential biological interaction was assessed through the synergy index S. Each MGMT SNP conferred increased risks of EAC but not EGJAC; strongest associations were found for the 2 variant MGMT alleles rs12268840 and I143V (p = 0.005 and p < 0.001, respectively). 18386788 2008
dbSNP: rs2308327
rs2308327
Entrez Id: 4255
Gene Symbol: MGMT
MGMT
CUI: C1275122
Disease:
Familial multiple trichoepitheliomata
0.010 GeneticVariation BEFREE We compared patients with EAC (n = 263) or EGJAC (n = 303) with matched population controls (n = 1,337) for the frequency of 5 MGMT single nucleotide polymorphisms (SNPs) (rs12269324, rs12268840, L84F, I143V, K178R), as well as SNPs in DNA repair genes ERCC1 (N118N), XRCC1 (Q399R) and XPD (K751Q). 18386788 2008
dbSNP: rs12917
rs12917
Entrez Id: 4255;105378560
Gene Symbol: MGMT;LOC105378560
MGMT;LOC105378560
CUI: C0006826
Disease:
Malignant Neoplasms
0.070 GeneticVariation BEFREE Several common coding-region polymorphisms in the MGMT gene (L84F and the linked pair I143V/K178R) modify functional characteristics of MGMT and cancer risk. 18812520 2009
dbSNP: rs12917
rs12917
Entrez Id: 4255;105378560
Gene Symbol: MGMT;LOC105378560
MGMT;LOC105378560
CUI: C1306459
Disease:
Primary malignant neoplasm
0.070 GeneticVariation BEFREE Several common coding-region polymorphisms in the MGMT gene (L84F and the linked pair I143V/K178R) modify functional characteristics of MGMT and cancer risk. 18812520 2009
dbSNP: rs12917
rs12917
Entrez Id: 4255;105378560
Gene Symbol: MGMT;LOC105378560
MGMT;LOC105378560
CUI: C0017638
Disease:
Glioma
0.040 GeneticVariation BEFREE Furthermore, the multifactor dimensionality reduction and classification and regression tree analyses identified MGMT F84L as the predominant risk factor for glioma and revealed strong interactions among ionizing radiation exposure, PARP1 A762V, MGMT F84L, and APEX1 E148D. 19124499 2009
dbSNP: rs2308321
rs2308321
Entrez Id: 4255
Gene Symbol: MGMT
MGMT
CUI: C1306459
Disease:
Primary malignant neoplasm
0.040 GeneticVariation BEFREE Several common coding-region polymorphisms in the MGMT gene (L84F and the linked pair I143V/K178R) modify functional characteristics of MGMT and cancer risk. 18812520 2009
dbSNP: rs2308321
rs2308321
Entrez Id: 4255
Gene Symbol: MGMT
MGMT
CUI: C0006826
Disease:
Malignant Neoplasms
0.040 GeneticVariation BEFREE Several common coding-region polymorphisms in the MGMT gene (L84F and the linked pair I143V/K178R) modify functional characteristics of MGMT and cancer risk. 18812520 2009
dbSNP: rs16906252
rs16906252
Entrez Id: 4255
Gene Symbol: MGMT
MGMT
CUI: C0009402
Disease:
Colorectal Carcinoma
0.030 GeneticVariation BEFREE We show that the T allele at SNP rs16906252 is a key determinant in the onset of MGMT methylation in colorectal cancer, whereas the association of methylation at MGMT and CDKN2A suggests that these loci may be targets of a common mechanism of epigenetic dysregulation. 19734844 2009
dbSNP: rs16906252
rs16906252
Entrez Id: 4255
Gene Symbol: MGMT
MGMT
CUI: C0009402
Disease:
Colorectal Carcinoma
0.030 GeneticVariation BEFREE A correlation between methylation and the T allele of the rs16906252 single nucleotide polymorphism (SNP) in colorectal carcinomas has previously been reported. 19789298 2009
dbSNP: rs16906252
rs16906252
Entrez Id: 4255
Gene Symbol: MGMT
MGMT
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.020 GeneticVariation BEFREE We show that the T allele at SNP rs16906252 is a key determinant in the onset of MGMT methylation in colorectal cancer, whereas the association of methylation at MGMT and CDKN2A suggests that these loci may be targets of a common mechanism of epigenetic dysregulation. 19734844 2009
dbSNP: rs2308318
rs2308318
Entrez Id: 4255
Gene Symbol: MGMT
MGMT
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.010 GeneticVariation BEFREE However, there was a significant association between two polymorphisms in MGMT with sporadic colorectal cancer: Arg128Gln (OR, 5.53; 95% CI) and Gly160Arg (OR, 3.04; 95% CI). 20192566 2009
dbSNP: rs2308318
rs2308318
Entrez Id: 4255
Gene Symbol: MGMT
MGMT
CUI: C0009402
Disease:
Colorectal Carcinoma
0.010 GeneticVariation BEFREE However, there was a significant association between two polymorphisms in MGMT with sporadic colorectal cancer: Arg128Gln (OR, 5.53; 95% CI) and Gly160Arg (OR, 3.04; 95% CI). 20192566 2009
dbSNP: rs2308327
rs2308327
Entrez Id: 4255
Gene Symbol: MGMT
MGMT
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE Several common coding-region polymorphisms in the MGMT gene (L84F and the linked pair I143V/K178R) modify functional characteristics of MGMT and cancer risk. 18812520 2009
dbSNP: rs2308327
rs2308327
Entrez Id: 4255
Gene Symbol: MGMT
MGMT
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE Several common coding-region polymorphisms in the MGMT gene (L84F and the linked pair I143V/K178R) modify functional characteristics of MGMT and cancer risk. 18812520 2009
dbSNP: rs7087131
rs7087131
Entrez Id: 4255
Gene Symbol: MGMT
MGMT
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
0.010 GeneticVariation BEFREE The A allele of the rs7087131 variant of MGMT gene was associated with a decreased risk of ESCC under a dominant model (odds ratio, 0.79; 95% confidence interval, 0.64-0.96; P = 0.02). 19826048 2009
dbSNP: rs12917
rs12917
Entrez Id: 4255;105378560
Gene Symbol: MGMT;LOC105378560
MGMT;LOC105378560
CUI: C1306459
Disease:
Primary malignant neoplasm
0.070 GeneticVariation BEFREE Its two common single-nucleotide polymorphisms, Leu84Phe and Ile143Val, had previously been identified to contribute to susceptibility of cancer. 19892775 2010
dbSNP: rs12917
rs12917
Entrez Id: 4255;105378560
Gene Symbol: MGMT;LOC105378560
MGMT;LOC105378560
CUI: C0006826
Disease:
Malignant Neoplasms
0.070 GeneticVariation BEFREE Its two common single-nucleotide polymorphisms, Leu84Phe and Ile143Val, had previously been identified to contribute to susceptibility of cancer. 19892775 2010