Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
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
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
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
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
0.450 GeneticVariation disease BEFREE Mutations in DNMT1 were specific to 2 HSAN1E kindreds with dementia and hearing loss (no narcolepsy). 23365052 2013
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
0.450 GeneticVariation disease BEFREE And mutations in DNMT1 can induce one form of neurodegenerative diseases with dementia and sensorineural hearing loss. 23771421 2013
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
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
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
0.450 Biomarker disease CTD_human 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
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
0.450 Biomarker disease HPO