rs104894161
×
Entrez Id:
1959
Gene Symbol:
EGR2
EGR2
Dejerine-Sottas Disease (disorder)
A
0.830
CausalMutation
CLINVAR
rs104894158
×
Entrez Id:
1959
Gene Symbol:
EGR2
EGR2
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE
T
0.800
CausalMutation
CLINVAR
rs104894159
×
Entrez Id:
1959
Gene Symbol:
EGR2
EGR2
Charcot-Marie-Tooth disease, Type 1D (disorder)
A
0.800
CausalMutation
CLINVAR
rs104894161
×
Entrez Id:
1959
Gene Symbol:
EGR2
EGR2
Charcot-Marie-Tooth disease, Type 1D (disorder)
A
0.800
CausalMutation
CLINVAR
rs104894160
×
Entrez Id:
1959
Gene Symbol:
EGR2
EGR2
Hereditary Motor and Sensory Neuropathy Type I
A
0.710
CausalMutation
CLINVAR
rs104894158
×
Entrez Id:
1959
Gene Symbol:
EGR2
EGR2
Charcot-Marie-Tooth disease type 4
T
0.700
CausalMutation
CLINVAR
rs104894159
×
Entrez Id:
1959
Gene Symbol:
EGR2
EGR2
Hereditary Motor and Sensory Neuropathy Type I
A
0.700
CausalMutation
CLINVAR
rs104894161
×
Entrez Id:
1959
Gene Symbol:
EGR2
EGR2
DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL DOMINANT
A
0.700
CausalMutation
CLINVAR
rs121434563
×
Entrez Id:
1959
Gene Symbol:
EGR2
EGR2
DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL DOMINANT
T
0.700
CausalMutation
CLINVAR
rs281865136
×
Entrez Id:
1959
Gene Symbol:
EGR2
EGR2
Hereditary Motor and Sensory Neuropathy Type I
T
0.700
CausalMutation
CLINVAR
rs281865138
×
Entrez Id:
1959
Gene Symbol:
EGR2
EGR2
Hereditary Motor and Sensory Neuropathy Type I
C
0.700
CausalMutation
CLINVAR
rs281865139
×
Entrez Id:
1959
Gene Symbol:
EGR2
EGR2
Hereditary Motor and Sensory Neuropathy Type I
T
0.700
CausalMutation
CLINVAR
rs751448371
×
Entrez Id:
1959
Gene Symbol:
EGR2
EGR2
Hereditary Motor and Sensory Neuropathy Type I
T
0.700
GeneticVariation
CLINVAR
rs104894161
×
Entrez Id:
1959
Gene Symbol:
EGR2
EGR2
Dejerine-Sottas Disease (disorder)
0.830
GeneticVariation
UNIPROT
A de novo missense mutation (Arg359Trp ) in the alpha-helix of the first zinc-finger domain of the EGR2 transcription factor was identified in a patient diagnosed with a clinical phenotype consistent with DSS .
10371530
1999
rs104894161
×
Entrez Id:
1959
Gene Symbol:
EGR2
EGR2
Dejerine-Sottas Disease (disorder)
0.830
GeneticVariation
BEFREE
A de novo missense mutation (Arg359Trp ) in the alpha-helix of the first zinc-finger domain of the EGR2 transcription factor was identified in a patient diagnosed with a clinical phenotype consistent with DSS .
10371530
1999
rs104894159
×
Entrez Id:
1959
Gene Symbol:
EGR2
EGR2
Dejerine-Sottas Disease (disorder)
0.030
GeneticVariation
BEFREE
A de novo missense mutation (Arg359Trp ) in the alpha-helix of the first zinc-finger domain of the EGR2 transcription factor was identified in a patient diagnosed with a clinical phenotype consistent with DSS .
10371530
1999
rs104894159
×
Entrez Id:
1959
Gene Symbol:
EGR2
EGR2
Charcot-Marie-Tooth disease, Type 1D (disorder)
0.800
GeneticVariation
UNIPROT
A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot--Marie--Tooth disease type 1.
11239949
2001
rs104894161
×
Entrez Id:
1959
Gene Symbol:
EGR2
EGR2
Charcot-Marie-Tooth disease, Type 1D (disorder)
0.800
GeneticVariation
UNIPROT
A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot--Marie--Tooth disease type 1.
11239949
2001
rs104894160
×
Entrez Id:
1959
Gene Symbol:
EGR2
EGR2
Charcot-Marie-Tooth disease, Type 1D (disorder)
0.700
GeneticVariation
UNIPROT
A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot--Marie--Tooth disease type 1.
11239949
2001
rs281865137
×
Entrez Id:
1959
Gene Symbol:
EGR2
EGR2
Charcot-Marie-Tooth disease, Type 1D (disorder)
0.700
GeneticVariation
UNIPROT
A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot--Marie--Tooth disease type 1.
11239949
2001
rs104894159
×
Entrez Id:
1959
Gene Symbol:
EGR2
EGR2
Charcot-Marie-Tooth disease, Type 1D (disorder)
0.800
GeneticVariation
UNIPROT
A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease.
10502832
1999
rs104894161
×
Entrez Id:
1959
Gene Symbol:
EGR2
EGR2
Charcot-Marie-Tooth disease, Type 1D (disorder)
0.800
GeneticVariation
UNIPROT
A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease.
10502832
1999
rs104894160
×
Entrez Id:
1959
Gene Symbol:
EGR2
EGR2
Charcot-Marie-Tooth disease, Type 1D (disorder)
0.700
GeneticVariation
UNIPROT
A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease.
10502832
1999
rs281865137
×
Entrez Id:
1959
Gene Symbol:
EGR2
EGR2
Charcot-Marie-Tooth disease, Type 1D (disorder)
0.700
GeneticVariation
UNIPROT
A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease.
10502832
1999
rs10761670
×
Entrez Id:
1959
Gene Symbol:
EGR2
EGR2
Lupus Erythematosus, Systemic
0.010
GeneticVariation
BEFREE
A peak of association with SLE susceptibility was observed for rs10761670 [Pooled: OR = 1.23 (95% CI 1.10-1.37), P=0.00023).
20194224
2010