DNMT1, DNA methyltransferase 1, 1786

N. diseases: 496; N. variants: 36
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3807295
Disease: CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT 		0.770 GeneticVariation disease BEFREE To date, two phenotypes produced by DNMT1 mutations have been reported, including hereditary sensory and autonomic neuropathy (HSAN) type IE with mutations in exon 20, and autosomal dominant cerebellar ataxia, deafness, and narcolepsy caused by mutations in exon 21. 23521649 2013
CUI: C3807295
Disease: CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT 		0.770 GeneticVariation disease BEFREE HSAN IE and ADCA-DN are two extreme phenotypic manifestations of a DNMT1 methylopathy. 24727570 2014
CUI: C3807295
Disease: CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT 		0.770 GeneticVariation disease UNIPROT We performed exome sequencing in five individuals from three ADCA-DN kindreds and identified DNMT1 as the only gene with mutations found in all five affected individuals. 22328086 2012
CUI: C3807295
Disease: CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT 		0.770 GeneticVariation disease BEFREE Missense mutations in the DNMT1 gene have been previously associated with two neurological syndromes: hereditary sensory and autonomic neuropathy type 1 with dementia and deafness (HSAN1E) and autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN). 27277422 2016
CUI: C3807295
Disease: CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT 		0.770 GeneticVariation disease BEFREE The two asymptomatic carriers of the heterozygous DNMT1 mutation for ADCA-DN, a late-onset neurodegenerative disease, presented with SOREMPs associated with an increase of mI in the brain, a marker of glial cell activity and density characteristic of early stages of neurodegenerative diseases. 24709307 2014
CUI: C3807295
Disease: CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT 		0.770 GeneticVariation disease BEFREE Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is caused by DNMT1 mutations. 23904686 2013
CUI: C3279885
Disease: Hereditary Sensory and Autonomic Neuropathy Type Ie
Hereditary Sensory and Autonomic Neuropathy Type Ie 		0.720 GeneticVariation disease BEFREE We previously discovered DNMT1 mutations cause hereditary sensory and autonomic neuropathy type 1 with dementia and hearing loss (HSAN1E; OMIM 614116). 25033457 2014
CUI: C3279885
Disease: Hereditary Sensory and Autonomic Neuropathy Type Ie
Hereditary Sensory and Autonomic Neuropathy Type Ie 		0.720 GeneticVariation disease CLINVAR
CUI: C3279885
Disease: Hereditary Sensory and Autonomic Neuropathy Type Ie
Hereditary Sensory and Autonomic Neuropathy Type Ie 		0.720 GeneticVariation disease BEFREE Identification of a novel DNMT1 mutation in a Chinese patient with hereditary sensory and autonomic neuropathy type IE. 30342480 2018
CUI: C3279885
Disease: Hereditary Sensory and Autonomic Neuropathy Type Ie
Hereditary Sensory and Autonomic Neuropathy Type Ie 		0.720 GeneticVariation disease UNIPROT Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. 21532572 2011
CUI: C0497327
Disease: Dementia
Dementia 		0.450 GeneticVariation disease BEFREE We report on the extensive phenotypic characterization of five Italian patients from four unrelated families carrying dominant heterozygous DNMT1 mutations linked to two distinct autosomal dominant diseases: hereditary sensory and autonomic neuropathy with dementia and hearing loss type IE (HSAN IE) and autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN). 24727570 2014
CUI: C0497327
Disease: Dementia
Dementia 		0.450 GeneticVariation disease BEFREE Here we show that mutations in DNMT1 cause both central and peripheral neurodegeneration in one form of hereditary sensory and autonomic neuropathy with dementia and hearing loss. 21532572 2011
CUI: C0497327
Disease: Dementia
Dementia 		0.450 GeneticVariation disease BEFREE As mutations in DNMT1 cause a rare dominant form of narcolepsy in association with deafness, cerebellar ataxia and dementia, we questioned whether the association with P2RY11 in sporadic narcolepsy could be secondary to linkage disequilibrium with DNMT1. 25669430 2015
CUI: C0497327
Disease: Dementia
Dementia 		0.450 GeneticVariation disease BEFREE Mutations in DNMT1 were specific to 2 HSAN1E kindreds with dementia and hearing loss (no narcolepsy). 23365052 2013
CUI: C0497327
Disease: Dementia
Dementia 		0.450 GeneticVariation disease BEFREE And mutations in DNMT1 can induce one form of neurodegenerative diseases with dementia and sensorineural hearing loss. 23771421 2013
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.400 GeneticVariation disease BEFREE We hypothesized that heritable methylation potential might be a risk factor for breast cancer and evaluated possible association with breast cancer for single nucleotide polymorphisms (SNPs) either involving CpG sequences in extended 5'-regulatory regions of candidate genes (ESR1, ESR2, PGR, and SHBG) or CpG and missense coding SNPs in genes involved in methylation (MBD1, MECP2, DNMT1, MGMT, MTHFR, MTR, MTRR, MTHFD1, MTHFD2, BHMT, DCTD, and SLC19A1). 21105050 2011
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.400 GeneticVariation disease BEFREE Our data suggest that there is no apparent association of common DNMT-1 and DNMT-3B polymorphisms with the risk of breast cancer among Chinese women. 19798569 2010
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.400 GeneticVariation disease BEFREE Hypermethylated E2F transcription factor 1 (E2F1) motif is a key regulatory element for the DNMT1 gene in BRCA1-mutated breast cancer. 24502362 2014
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.400 GeneticVariation disease BEFREE Two SNPs, rs16999593 in DNMT1 and rs2424908 in DNMT3B, were significantly associated with breast cancer risk. 23079992 2012
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.400 GeneticVariation disease BEFREE A hypermethylation defect associated with DNMT hyperactivity and DNMT3b overexpression characterizes a subset of breast cancers and breast cancer cell lines. 22664488 2012
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.400 GeneticVariation disease 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
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.400 GeneticVariation disease BEFREE No mutation in the 5'-flanking region of the DNMT1 gene was detected in any of the colorectal and stomach cancers or HCCs. 12637155 2003
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.400 GeneticVariation disease BEFREE We could not show any association between DNMT1 polymorphisms and gastric cancer. 20192608 2009
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.400 GeneticVariation disease BEFREE We aimed to assess the effect of DNMTs polymorphisms on the susceptibility to GC. 27789275 2016
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.400 GeneticVariation disease BEFREE This study suggests that five genetic variations of interest in DNMT1 and DNMT3A are not associated with the presence of gastric cancer, but that rs13420827 may contribute to the gastric cancer risk for those younger individuals, the risk of which may be influenced by the characteristics of tumor. 29956566 2018