DNMT1, DNA methyltransferase 1, 1786

N. diseases: 496; N. variants: 36
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397509391
rs397509391
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C3807295
Disease:
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT 		A 0.820 CausalMutation CLINVAR
dbSNP: rs397509392
rs397509392
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C3807295
Disease:
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT 		A 0.810 CausalMutation CLINVAR
dbSNP: rs397509393
rs397509393
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C3807295
Disease:
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT 		G 0.810 CausalMutation CLINVAR
dbSNP: rs199473690
rs199473690
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C3279885
Disease:
Hereditary Sensory and Autonomic Neuropathy Type Ie 		C 0.800 GeneticVariation CLINVAR
dbSNP: rs199473690
rs199473690
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C3279885
Disease:
Hereditary Sensory and Autonomic Neuropathy Type Ie 		C 0.800 CausalMutation CLINVAR
dbSNP: rs869312750
rs869312750
Entrez Id: 1786;9294
Gene Symbol: DNMT1;S1PR2
DNMT1;S1PR2
CUI: C1835854
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 68 		0.800 GeneticVariation UNIPROT
dbSNP: rs1568234664
rs1568234664
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C0025286
Disease:
Meningioma 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs199473691
rs199473691
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C3279885
Disease:
Hereditary Sensory and Autonomic Neuropathy Type Ie 		TAT 0.700 CausalMutation CLINVAR
dbSNP: rs199473692
rs199473692
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C3279885
Disease:
Hereditary Sensory and Autonomic Neuropathy Type Ie 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1359908894
rs1359908894
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C0020433
Disease:
Hyperbilirubinemia 		0.010 GeneticVariation BEFREE Multivariate analysis identified the MTHFR-A1298C polymorphism as an independent predictor for maximum levels of bilirubin (p=0.0025) and duration of hyperbilirubinaemia (p=0.013). 18214047 2008
dbSNP: rs1419316960
rs1419316960
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
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: rs1419316960
rs1419316960
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
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: rs62106244
rs62106244
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C0242994
Disease:
Hantavirus Infections 		0.010 GeneticVariation BEFREE However, the T allele of rs62106244 (intron 10 of DNMT1 gene) was over-represented in cases with HPS (p<0.01) compared with population controls. 21347319 2011
dbSNP: rs199473690
rs199473690
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C3279885
Disease:
Hereditary Sensory and Autonomic Neuropathy Type Ie 		0.800 GeneticVariation UNIPROT Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. 21532572 2011
dbSNP: rs397509391
rs397509391
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C3807295
Disease:
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT 		0.820 GeneticVariation BEFREE Sanger sequencing confirmed the de novo mutation p.Ala570Val in one family, and showed co-segregation of p.Val606Phe and p.Ala570Val, with the ADCA-DN phenotype, in two other kindreds. 22328086 2012
dbSNP: rs397509391
rs397509391
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C3807295
Disease:
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT 		0.820 GeneticVariation UNIPROT Sanger sequencing confirmed the de novo mutation p.Ala570Val in one family, and showed co-segregation of p.Val606Phe and p.Ala570Val, with the ADCA-DN phenotype, in two other kindreds. 22328086 2012
dbSNP: rs397509392
rs397509392
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C3807295
Disease:
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT 		0.810 GeneticVariation UNIPROT Sanger sequencing confirmed the de novo mutation p.Ala570Val in one family, and showed co-segregation of p.Val606Phe and p.Ala570Val, with the ADCA-DN phenotype, in two other kindreds. 22328086 2012
dbSNP: rs397509392
rs397509392
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C3807295
Disease:
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT 		0.810 GeneticVariation BEFREE Sanger sequencing confirmed the de novo mutation p.Ala570Val in one family, and showed co-segregation of p.Val606Phe and p.Ala570Val, with the ADCA-DN phenotype, in two other kindreds. 22328086 2012
dbSNP: rs397509393
rs397509393
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C3807295
Disease:
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT 		0.810 GeneticVariation UNIPROT Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy. 22328086 2012
dbSNP: rs16999593
rs16999593
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C0699791
Disease:
Stomach Carcinoma 		0.030 GeneticVariation BEFREE We found that rs16999593 in DNMT1, rs11254413 in DNMT2 and rs13420827 in DNMT3A were significantly associated with GC susceptibility (OR 1.45, 0.15, 0.66, respectively; 95% CI 1.00-2.11, p = 0.047; 0.08-0.27, p < 0.01; 0.45-0.97, p = 0.034, respectively, overdominant model). 22942708 2012
dbSNP: rs16999593
rs16999593
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C0024623
Disease:
Malignant neoplasm of stomach 		0.030 GeneticVariation BEFREE We found that rs16999593 in DNMT1, rs11254413 in DNMT2 and rs13420827 in DNMT3A were significantly associated with GC susceptibility (OR 1.45, 0.15, 0.66, respectively; 95% CI 1.00-2.11, p = 0.047; 0.08-0.27, p < 0.01; 0.45-0.97, p = 0.034, respectively, overdominant model). 22942708 2012
dbSNP: rs2228612
rs2228612
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C0007102
Disease:
Malignant tumor of colon 		0.010 GeneticVariation BEFREE However, statistically significant interactions modifying CC risk were observed for DNMT1 I311V with dietary folate, methionine, vitamin B2 , and vitamin B12 intake and for MTRR I22M with dietary folate, a predefined one-carbon dietary pattern, and vitamin B6 intake. 22961839 2013
dbSNP: rs2228612
rs2228612
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C0699790
Disease:
Colon Carcinoma 		0.010 GeneticVariation BEFREE However, statistically significant interactions modifying CC risk were observed for DNMT1 I311V with dietary folate, methionine, vitamin B2 , and vitamin B12 intake and for MTRR I22M with dietary folate, a predefined one-carbon dietary pattern, and vitamin B6 intake. 22961839 2013
dbSNP: rs10420321
rs10420321
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C0850666
Disease:
Infection caused by Helicobacter pylori 		0.010 GeneticVariation BEFREE Individuals with rs10420321 GG and rs8111085 CC genotype of the DNMT1 gene were associated with reduced risks for H.pylori infection. 23049933 2012
dbSNP: rs8111085
rs8111085
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C0850666
Disease:
Infection caused by Helicobacter pylori 		0.010 GeneticVariation BEFREE Individuals with rs10420321 GG and rs8111085 CC genotype of the DNMT1 gene were associated with reduced risks for H.pylori infection. 23049933 2012