rs397509391
×
Entrez Id:
1786
Gene Symbol:
DNMT1
DNMT1
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
rs397509391
×
Entrez Id:
1786
Gene Symbol:
DNMT1
DNMT1
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
rs397509391
×
Entrez Id:
1786
Gene Symbol:
DNMT1
DNMT1
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
rs397509391
×
Entrez Id:
1786
Gene Symbol:
DNMT1
DNMT1
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
A
0.820
CausalMutation
CLINVAR
rs397509393
×
Entrez Id:
1786
Gene Symbol:
DNMT1
DNMT1
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
rs397509392
×
Entrez Id:
1786
Gene Symbol:
DNMT1
DNMT1
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
rs397509392
×
Entrez Id:
1786
Gene Symbol:
DNMT1
DNMT1
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
rs397509393
×
Entrez Id:
1786
Gene Symbol:
DNMT1
DNMT1
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
0.810
GeneticVariation
UNIPROT
Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy.
22328086
2012
rs397509392
×
Entrez Id:
1786
Gene Symbol:
DNMT1
DNMT1
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
A
0.810
CausalMutation
CLINVAR
rs397509393
×
Entrez Id:
1786
Gene Symbol:
DNMT1
DNMT1
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
G
0.810
CausalMutation
CLINVAR
rs869312749
DNMT1;S1PR2
DEAFNESS, AUTOSOMAL RECESSIVE 68
0.800
GeneticVariation
UNIPROT
Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2.
26805784
2016
rs869312749
DNMT1;S1PR2
DEAFNESS, AUTOSOMAL RECESSIVE 68
G
0.800
CausalMutation
CLINVAR
Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2.
26805784
2016
rs869312750
DNMT1;S1PR2
DEAFNESS, AUTOSOMAL RECESSIVE 68
C
0.800
CausalMutation
CLINVAR
Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2.
26805784
2016
rs199473690
×
Entrez Id:
1786
Gene Symbol:
DNMT1
DNMT1
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
rs199473690
×
Entrez Id:
1786
Gene Symbol:
DNMT1
DNMT1
Hereditary Sensory and Autonomic Neuropathy Type Ie
C
0.800
GeneticVariation
CLINVAR
rs199473690
×
Entrez Id:
1786
Gene Symbol:
DNMT1
DNMT1
Hereditary Sensory and Autonomic Neuropathy Type Ie
C
0.800
CausalMutation
CLINVAR
rs869312750
DNMT1;S1PR2
DEAFNESS, AUTOSOMAL RECESSIVE 68
0.800
GeneticVariation
UNIPROT
rs10409243
DNMT1;S1PR2
Cardiovascular Diseases
0.700
GeneticVariation
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019
rs10409243
DNMT1;S1PR2
Systolic Pressure
0.700
GeneticVariation
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019
rs11085720
×
Entrez Id:
1786
Gene Symbol:
DNMT1
DNMT1
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
rs2116942
DNMT1;S1PR2
Systolic Pressure
T
0.700
GeneticVariation
GWASCAT
Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.
30578418
2019
rs78333947
×
Entrez Id:
1786
Gene Symbol:
DNMT1
DNMT1
Body Height
0.700
GeneticVariation
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019
rs10409243
DNMT1;S1PR2
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
rs10409243
DNMT1;S1PR2
Granulocyte count
T
0.700
GeneticVariation
GWASCAT
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
27863252
2016
rs10409243
DNMT1;S1PR2
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