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
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 BEFREE Two of these mutations, G589A and V590F, are associated with development of autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN). 31804802 2019
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: rs397509393
rs397509393
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C3807295
Disease:
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
0.810 GeneticVariation BEFREE Two of these mutations, G589A and V590F, are associated with development of autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN). 31804802 2019
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: rs869312749
rs869312749
Entrez Id: 1786;9294
Gene Symbol: DNMT1;S1PR2
DNMT1;S1PR2
CUI: C1835854
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 68
0.800 GeneticVariation UNIPROT Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2. 26805784 2016
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: rs10409243
rs10409243
Entrez Id: 1786;9294
Gene Symbol: DNMT1;S1PR2
DNMT1;S1PR2
CUI: C0007222
Disease:
Cardiovascular Diseases
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs10409243
rs10409243
Entrez Id: 1786;9294
Gene Symbol: DNMT1;S1PR2
DNMT1;S1PR2
CUI: C0871470
Disease:
Systolic Pressure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs78333947
rs78333947
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C0005890
Disease:
Body Height
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
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: C0699791
Disease:
Stomach Carcinoma
0.030 GeneticVariation BEFREE Nine variants on nine genes were rated as presenting strong cumulative epidemiological evidence for a nominally significant association with GC risk, including <i>APE1</i> (rs1760944), <i>DNMT1</i> (rs16999593), <i>ERCC5</i> (rs751402), <i>GSTT1</i> (null/presence), <i>MDM2</i> (rs2278744), <i>PPARG</i> (rs1801282), <i>TLR4</i> (rs4986790), <i>IL-17F</i> (rs763780), and <i>CASP8</i> (rs3834129). 31516756 2019
dbSNP: rs16999593
rs16999593
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C0699791
Disease:
Stomach Carcinoma
0.030 GeneticVariation BEFREE This meta-analysis demonstrated that rs16999593 and rs1550117 could contribute to GC risk and that rs1569686 might be a protective factor against gastric carcinogenesis. 27789275 2016
dbSNP: rs16999593
rs16999593
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C0024623
Disease:
Malignant neoplasm of stomach
0.030 GeneticVariation BEFREE This meta-analysis demonstrated that rs16999593 and rs1550117 could contribute to GC risk and that rs1569686 might be a protective factor against gastric carcinogenesis. 27789275 2016
dbSNP: rs16999593
rs16999593
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C0024623
Disease:
Malignant neoplasm of stomach
0.030 GeneticVariation BEFREE Nine variants on nine genes were rated as presenting strong cumulative epidemiological evidence for a nominally significant association with GC risk, including <i>APE1</i> (rs1760944), <i>DNMT1</i> (rs16999593), <i>ERCC5</i> (rs751402), <i>GSTT1</i> (null/presence), <i>MDM2</i> (rs2278744), <i>PPARG</i> (rs1801282), <i>TLR4</i> (rs4986790), <i>IL-17F</i> (rs763780), and <i>CASP8</i> (rs3834129). 31516756 2019
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: rs16999593
rs16999593
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C0678222
Disease:
Breast Carcinoma
0.020 GeneticVariation BEFREE The meta-analysis also suggested that <i>DNMT1</i> rs16999593 (T/C) may be associated with gastric cancer, while rs2228611 (G/A) may be associated with breast cancer. 28473984 2017
dbSNP: rs16999593
rs16999593
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.020 GeneticVariation BEFREE The heterozygous genotype CT of rs16999593 was associated with increased breast cancer risk [odds ratio (OR) = 1.60; 95% confidence interval (95%CI) = 1.20-2.14; P = 0.0052], whereas rs2424908 was associated with decreased risk (OR = 0.62; 95%CI = 0.46-0.84; P = 0.0061). 23079992 2012
dbSNP: rs16999593
rs16999593
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.020 GeneticVariation BEFREE The meta-analysis also suggested that <i>DNMT1</i> rs16999593 (T/C) may be associated with gastric cancer, while rs2228611 (G/A) may be associated with breast cancer. 28473984 2017
dbSNP: rs16999593
rs16999593
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C0678222
Disease:
Breast Carcinoma
0.020 GeneticVariation BEFREE The heterozygous genotype CT of rs16999593 was associated with increased breast cancer risk [odds ratio (OR) = 1.60; 95% confidence interval (95%CI) = 1.20-2.14; P = 0.0052], whereas rs2424908 was associated with decreased risk (OR = 0.62; 95%CI = 0.46-0.84; P = 0.0061). 23079992 2012
dbSNP: rs2228611
rs2228611
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.020 GeneticVariation BEFREE <i>DNMT1</i> rs2228611 may represent a determinant of radiation-induced fibrosis in breast cancer patients with promise for clinical usefulness in genetic-based predictive models. 27554481 2017
dbSNP: rs2228611
rs2228611
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C0678222
Disease:
Breast Carcinoma
0.020 GeneticVariation BEFREE <i>DNMT1</i> rs2228611 may represent a determinant of radiation-induced fibrosis in breast cancer patients with promise for clinical usefulness in genetic-based predictive models. 27554481 2017