DNMT1, DNA methyltransferase 1, 1786

N. diseases: 496; N. variants: 36
Disease: Cerebellar Ataxia, Deafness, and Narcolepsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1858804
Disease: Cerebellar Ataxia, Deafness, and Narcolepsy
Cerebellar Ataxia, Deafness, and Narcolepsy 		0.320 GeneticVariation disease BEFREE Mutations in DNA methyltransferase 1 (DNMT1) have been identified in 2 autosomal dominant syndromes: 1) hereditary sensory autonomic neuropathy with dementia and hearing loss (HSAN1E); and 2) cerebellar ataxia, deafness, and narcolepsy. 23365052 2013
CUI: C1858804
Disease: Cerebellar Ataxia, Deafness, and Narcolepsy
Cerebellar Ataxia, Deafness, and Narcolepsy 		0.320 GeneticVariation disease BEFREE A novel de novo exon 21 DNMT1 mutation causes cerebellar ataxia, deafness, and narcolepsy in a Brazilian patient. 23904686 2013
CUI: C1858804
Disease: Cerebellar Ataxia, Deafness, and Narcolepsy
Cerebellar Ataxia, Deafness, and Narcolepsy 		0.320 Biomarker disease CTD_human