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
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
0.770 CausalMutation disease CLINVAR
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
0.770 Biomarker disease GENOMICS_ENGLAND
Hereditary Sensory and Autonomic Neuropathy Type Ie
0.720 Biomarker disease GENOMICS_ENGLAND
Hereditary Sensory and Autonomic Neuropathy Type Ie
0.720 GeneticVariation disease CLINVAR
Hereditary Sensory and Autonomic Neuropathy Type Ie
0.720 Biomarker disease CTD_human
Hereditary Sensory and Autonomic Neuropathy Type Ie
0.720 CausalMutation disease CLINVAR
CUI: C0497327
Disease: Dementia
Dementia
0.450 Biomarker disease HPO
Cerebellar Ataxia, Deafness, and Narcolepsy
0.320 Biomarker disease CTD_human
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.150 Biomarker disease HPO
CUI: C0025286
Disease: Meningioma
Meningioma
0.120 GeneticVariation disease CLINVAR
Sensorineural Hearing Loss (disorder)
0.110 Biomarker disease HPO
CUI: C0086543
Disease: Cataract
Cataract
0.110 Biomarker disease HPO
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy
0.110 Biomarker disease HPO
CUI: C0233794
Disease: Memory impairment
Memory impairment
0.110 Biomarker phenotype HPO
CUI: C0004134
Disease: Ataxia
Ataxia
0.100 Biomarker phenotype HPO
CUI: C0007384
Disease: Cataplexy
Cataplexy
0.100 Biomarker disease HPO
CUI: C0011206
Disease: Delirium
Delirium
0.100 Biomarker disease HPO
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
0.100 Biomarker disease HPO
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior
0.100 Biomarker phenotype HPO
CUI: C0022107
Disease: Irritable Mood
Irritable Mood
0.100 Biomarker phenotype HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
0.100 Biomarker phenotype HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 Biomarker disease HPO
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
0.100 Biomarker disease HPO
CUI: C0029443
Disease: Osteomyelitis
Osteomyelitis
0.100 Biomarker disease HPO
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex
0.100 Biomarker phenotype HPO