DNMT1, DNA methyltransferase 1, 1786

N. diseases: 496; N. variants: 36
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397509391
rs397509391
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C3807295
Disease:
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
0.820 GeneticVariation BEFREE Two of these mutations, G589A and V590F, are associated with development of autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN). 31804802 2019
dbSNP: rs397509391
rs397509391
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C3807295
Disease:
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
0.820 GeneticVariation BEFREE Sanger sequencing confirmed the de novo mutation p.Ala570Val in one family, and showed co-segregation of p.Val606Phe and p.Ala570Val, with the ADCA-DN phenotype, in two other kindreds. 22328086 2012
dbSNP: rs397509391
rs397509391
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C3807295
Disease:
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
0.820 GeneticVariation UNIPROT Sanger sequencing confirmed the de novo mutation p.Ala570Val in one family, and showed co-segregation of p.Val606Phe and p.Ala570Val, with the ADCA-DN phenotype, in two other kindreds. 22328086 2012
dbSNP: rs397509391
rs397509391
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C3807295
Disease:
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
A 0.820 CausalMutation CLINVAR
dbSNP: rs397509393
rs397509393
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C3807295
Disease:
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
0.810 GeneticVariation BEFREE Two of these mutations, G589A and V590F, are associated with development of autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN). 31804802 2019
dbSNP: rs397509392
rs397509392
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C3807295
Disease:
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
0.810 GeneticVariation UNIPROT Sanger sequencing confirmed the de novo mutation p.Ala570Val in one family, and showed co-segregation of p.Val606Phe and p.Ala570Val, with the ADCA-DN phenotype, in two other kindreds. 22328086 2012
dbSNP: rs397509392
rs397509392
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C3807295
Disease:
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
0.810 GeneticVariation BEFREE Sanger sequencing confirmed the de novo mutation p.Ala570Val in one family, and showed co-segregation of p.Val606Phe and p.Ala570Val, with the ADCA-DN phenotype, in two other kindreds. 22328086 2012
dbSNP: rs397509393
rs397509393
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C3807295
Disease:
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
0.810 GeneticVariation UNIPROT Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy. 22328086 2012
dbSNP: rs397509392
rs397509392
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C3807295
Disease:
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
A 0.810 CausalMutation CLINVAR
dbSNP: rs397509393
rs397509393
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C3807295
Disease:
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
G 0.810 CausalMutation CLINVAR
dbSNP: rs869312749
rs869312749
Entrez Id: 1786;9294
Gene Symbol: DNMT1;S1PR2
DNMT1;S1PR2
CUI: C1835854
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 68
0.800 GeneticVariation UNIPROT Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2. 26805784 2016
dbSNP: rs869312749
rs869312749
Entrez Id: 1786;9294
Gene Symbol: DNMT1;S1PR2
DNMT1;S1PR2
CUI: C1835854
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 68
G 0.800 CausalMutation CLINVAR Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2. 26805784 2016
dbSNP: rs869312750
rs869312750
Entrez Id: 1786;9294
Gene Symbol: DNMT1;S1PR2
DNMT1;S1PR2
CUI: C1835854
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 68
C 0.800 CausalMutation CLINVAR Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2. 26805784 2016
dbSNP: rs199473690
rs199473690
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C3279885
Disease:
Hereditary Sensory and Autonomic Neuropathy Type Ie
0.800 GeneticVariation UNIPROT Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. 21532572 2011
dbSNP: rs199473690
rs199473690
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C3279885
Disease:
Hereditary Sensory and Autonomic Neuropathy Type Ie
C 0.800 GeneticVariation CLINVAR
dbSNP: rs199473690
rs199473690
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C3279885
Disease:
Hereditary Sensory and Autonomic Neuropathy Type Ie
C 0.800 CausalMutation CLINVAR
dbSNP: rs869312750
rs869312750
Entrez Id: 1786;9294
Gene Symbol: DNMT1;S1PR2
DNMT1;S1PR2
CUI: C1835854
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 68
0.800 GeneticVariation UNIPROT
dbSNP: rs10409243
rs10409243
Entrez Id: 1786;9294
Gene Symbol: DNMT1;S1PR2
DNMT1;S1PR2
CUI: C0007222
Disease:
Cardiovascular Diseases
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs10409243
rs10409243
Entrez Id: 1786;9294
Gene Symbol: DNMT1;S1PR2
DNMT1;S1PR2
CUI: C0871470
Disease:
Systolic Pressure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs11085720
rs11085720
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C0005612
Disease:
Birth Weight
A 0.700 GeneticVariation GWASCAT Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. 31043758 2019
dbSNP: rs2116942
rs2116942
Entrez Id: 1786;9294
Gene Symbol: DNMT1;S1PR2
DNMT1;S1PR2
CUI: C0871470
Disease:
Systolic Pressure
T 0.700 GeneticVariation GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418 2019
dbSNP: rs78333947
rs78333947
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C0005890
Disease:
Body Height
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs10409243
rs10409243
Entrez Id: 1786;9294
Gene Symbol: DNMT1;S1PR2
DNMT1;S1PR2
CUI: C0200641
Disease:
Blood basophil count (lab test)
T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs10409243
rs10409243
Entrez Id: 1786;9294
Gene Symbol: DNMT1;S1PR2
DNMT1;S1PR2
CUI: C0857490
Disease:
Granulocyte count
T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs10409243
rs10409243
Entrez Id: 1786;9294
Gene Symbol: DNMT1;S1PR2
DNMT1;S1PR2
CUI: C0200633
Disease:
Neutrophil count (procedure)
T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016