Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C1858804
Disease: Cerebellar Ataxia, Deafness, and Narcolepsy
Cerebellar Ataxia, Deafness, and Narcolepsy 		0.320 GeneticVariation 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
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C1858804
Disease: Cerebellar Ataxia, Deafness, and Narcolepsy
Cerebellar Ataxia, Deafness, and Narcolepsy 		0.320 GeneticVariation BEFREE A novel de novo exon 21 DNMT1 mutation causes cerebellar ataxia, deafness, and narcolepsy in a Brazilian patient. 23904686

2013
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C1858804
Disease: Cerebellar Ataxia, Deafness, and Narcolepsy
Cerebellar Ataxia, Deafness, and Narcolepsy 		0.320 Biomarker CTD_human