NUDT1, nudix hydrolase 1, 4521

N. diseases: 73; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1799832
rs1799832
Entrez Id: 4521
Gene Symbol: NUDT1
NUDT1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.020 GeneticVariation BEFREE Heterozygous variants of rs1799832 in NUDT1 (HR = 2.97, 95% CI = 1.51-5.83) and rs13181 in ERCC2 (HR = 2.69, 95% CI = 1.10-6.55) were significantly associated with an increased risk of CRC compared with wild-type homozygous CC and TT genotypes, respectively. 29664240 2018
dbSNP: rs1799832
rs1799832
Entrez Id: 4521
Gene Symbol: NUDT1
NUDT1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.020 GeneticVariation BEFREE Two rare variants (OGG1 c.137G>A; MUTYH c.1187G>A) and one common polymorphism (NUDT1 c.426C>T) were associated with CRC risk. 21355073 2011
dbSNP: rs4866
rs4866
Entrez Id: 4521
Gene Symbol: NUDT1
NUDT1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE In this study, we screened for the polymorphism variants Val83Met (c.247G>A, rs4866) in hMTH1; c.-53G>C (rs56387615), c.-23A>G (rs1801129) and c.-18G>T (rs1801126) in the 5'-UTR of hOGG1; and AluYb8 insertion in MUTYH (AluYb8MUTYH, rs10527342) and investigated their synergistic effect on the risk of T2DM in the Chinese population. 23396182 2013
dbSNP: rs755509970
rs755509970
Entrez Id: 4521
Gene Symbol: NUDT1
NUDT1
CUI: C4511452
Disease:
Sporadic Parkinson disease
0.010 GeneticVariation BEFREE Association study of human MTH1 Ile45Thr polymorphism with sporadic Parkinson's disease. 17917452 2008
dbSNP: rs4866
rs4866
Entrez Id: 4521
Gene Symbol: NUDT1
NUDT1
CUI: C0149925
Disease:
Small cell carcinoma of lung
0.010 GeneticVariation BEFREE An SNP, Val83Met, in the MTH1 (microtT homolog 1) gene encoding a triphosphatase that hydrolyzes pro-mutagenic oxidized nucleoside triphosphates, such as 8-hydroxy-dGTP and 2-hydroxy-dATP, showed the strongest and a significant association with SCLC risk [odds ratio (OR)=1.6, 95% confidence interval (CI): 1.2-2.2, P=0.004], while three other SNPs in the TP53, BLM and SNM1 genes, respectively, also showed marginal associations (0.05<P<0.1). 16774934 2006
dbSNP: rs4866
rs4866
Entrez Id: 4521
Gene Symbol: NUDT1
NUDT1
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent
0.010 GeneticVariation BEFREE We examined whether Val83Met polymorphism of human MTH1 gene is associated with type 1 diabetes mellitus. 15516784 2004
dbSNP: rs4866
rs4866
Entrez Id: 4521
Gene Symbol: NUDT1
NUDT1
CUI: C4511452
Disease:
Sporadic Parkinson disease
0.010 GeneticVariation BEFREE A valine to methionine polymorphism at codon 83 in the 8-oxo-dGTPase gene MTH1 is not associated with sporadic Parkinson's disease. 11136354 2000
dbSNP: rs4866
rs4866
Entrez Id: 4521
Gene Symbol: NUDT1
NUDT1
CUI: C0030567
Disease:
Parkinson Disease
0.010 GeneticVariation BEFREE These results indicate that the 83Val/Met polymorphism in the MTH1 gene is not associated with an increased risk for development of sporadic PD. 11136354 2000