DNMT1, DNA methyltransferase 1, 1786

N. diseases: 496; N. variants: 36
Disease: Hereditary Sensory and Autonomic Neuropathy Type Ie ×
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 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 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