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: 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 Biomarker disease GENOMICS_ENGLAND Polysomnographic and neurometabolic features may mark preclinical autosomal dominant cerebellar ataxia, deafness, and narcolepsy due to a mutation in the DNA (cytosine-5-)-methyltransferase gene, DNMT1. 24709307 2014
CUI: C3279885
Disease: Hereditary Sensory and Autonomic Neuropathy Type Ie
Hereditary Sensory and Autonomic Neuropathy Type Ie 		0.720 GermlineCausalMutation disease ORPHANET DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss. 23365052 2013
CUI: C3279885
Disease: Hereditary Sensory and Autonomic Neuropathy Type Ie
Hereditary Sensory and Autonomic Neuropathy Type Ie 		0.720 Biomarker disease GENOMICS_ENGLAND A novel de novo exon 21 DNMT1 mutation causes cerebellar ataxia, deafness, and narcolepsy in a Brazilian patient. 23904686 2013
CUI: C3279885
Disease: Hereditary Sensory and Autonomic Neuropathy Type Ie
Hereditary Sensory and Autonomic Neuropathy Type Ie 		0.720 Biomarker disease GENOMICS_ENGLAND DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss. 23365052 2013
CUI: C3279885
Disease: Hereditary Sensory and Autonomic Neuropathy Type Ie
Hereditary Sensory and Autonomic Neuropathy Type Ie 		0.720 Biomarker disease GENOMICS_ENGLAND Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. 21532572 2011
CUI: C3279885
Disease: Hereditary Sensory and Autonomic Neuropathy Type Ie
Hereditary Sensory and Autonomic Neuropathy Type Ie 		0.720 GermlineCausalMutation disease ORPHANET Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. 21532572 2011
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: C3279885
Disease: Hereditary Sensory and Autonomic Neuropathy Type Ie
Hereditary Sensory and Autonomic Neuropathy Type Ie 		0.720 Biomarker disease GENOMICS_ENGLAND Sex-specific exons control DNA methyltransferase in mammalian germ cells. 9449671 1998
CUI: C3279885
Disease: Hereditary Sensory and Autonomic Neuropathy Type Ie
Hereditary Sensory and Autonomic Neuropathy Type Ie 		0.720 Biomarker disease GENOMICS_ENGLAND
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 Biomarker disease CTD_human
CUI: C3279885
Disease: Hereditary Sensory and Autonomic Neuropathy Type Ie
Hereditary Sensory and Autonomic Neuropathy Type Ie 		0.720 CausalMutation disease CLINVAR
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		0.520 Biomarker group BEFREE Levels of DNA methyltransferase 1 (DNMT1) and protein arginine methyltransferase 6 (PRMT6) were increased in colon tumors from Ppara<sup>ΔIE</sup> mice, compared with colon tumors from control mice. 31154022 2019
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		0.520 AlteredExpression group BEFREE The DNMT1 protein was overexpressed in colon tumours from patients compared to non-malignant mucosa from the same patients (P = 0.02). 30663502 2018
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		0.520 Biomarker group CTD_human Further, 5-azacytidine potentiated cisplatin induced antitumor activity by involving decreased expression of pAKT, DNMT1 and an increased expression of p38 in colon tumors. 19723570 2009
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		0.520 Therapeutic group RGD Further, 5-azacytidine potentiated cisplatin induced antitumor activity by involving decreased expression of pAKT, DNMT1 and an increased expression of p38 in colon tumors. 19723570 2009
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.510 Biomarker phenotype BEFREE Studies reporting sleep as a secondary aim generally report poorer sleep in HI participants. 31626556 2019
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.510 Biomarker phenotype CTD_human Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. 21532572 2011
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.510 Biomarker phenotype GENOMICS_ENGLAND Sex-specific exons control DNA methyltransferase in mammalian germ cells. 9449671 1998
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 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 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: 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