rs104894161
×
Entrez Id:
1959
Gene Symbol:
EGR2
EGR2
Dejerine-Sottas Disease (disorder)
0.830
GeneticVariation
BEFREE
This patient is presently less affected compared to previously described Dejerine-Sottas neuropathy (DSN ) patients carrying another substitution at codon 359 (Arg359Trp , R359W ).
16198564
2005
rs104894161
×
Entrez Id:
1959
Gene Symbol:
EGR2
EGR2
Dejerine-Sottas Disease (disorder)
0.830
GeneticVariation
BEFREE
We screened 170 unrelated neuropathy patients without mutations involving the peripheral myelin protein 22 gene (PMP22), the myelin protein zero gene (MPZ), or the gap junction protein beta1 gene (GJB1) and identified two DSN patients with the heterozygous mutation R359W in the alpha-helix domain of the first zinc-finger of EGR2.
11523566
2001
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
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
0.800
GeneticVariation
UNIPROT
Homozygous deletion of an EGR2 enhancer in congenital amyelinating neuropathy.
22522483
2012
rs224278
×
Entrez Id:
1959
Gene Symbol:
EGR2
EGR2
Ewings sarcoma
C
0.800
GeneticVariation
GWASDB
Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma.
22327514
2012
rs224278
×
Entrez Id:
1959
Gene Symbol:
EGR2
EGR2
Ewings sarcoma
C
0.800
GeneticVariation
GWASCAT
Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma.
22327514
2012
rs104894159
×
Entrez Id:
1959
Gene Symbol:
EGR2
EGR2
Charcot-Marie-Tooth disease, Type 1D (disorder)
0.800
GeneticVariation
UNIPROT
Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.
15947997
2005
rs104894161
×
Entrez Id:
1959
Gene Symbol:
EGR2
EGR2
Charcot-Marie-Tooth disease, Type 1D (disorder)
0.800
GeneticVariation
UNIPROT
Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.
15947997
2005
rs104894159
×
Entrez Id:
1959
Gene Symbol:
EGR2
EGR2
Charcot-Marie-Tooth disease, Type 1D (disorder)
0.800
GeneticVariation
UNIPROT
Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.
15241803
2004
rs104894161
×
Entrez Id:
1959
Gene Symbol:
EGR2
EGR2
Charcot-Marie-Tooth disease, Type 1D (disorder)
0.800
GeneticVariation
UNIPROT
Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.
15241803
2004
rs104894159
×
Entrez Id:
1959
Gene Symbol:
EGR2
EGR2
Charcot-Marie-Tooth disease, Type 1D (disorder)
0.800
GeneticVariation
UNIPROT
Screening of the early growth response 2 gene in Japanese patients with Charcot-Marie-Tooth disease type 1.
12736090
2003
rs104894161
×
Entrez Id:
1959
Gene Symbol:
EGR2
EGR2
Charcot-Marie-Tooth disease, Type 1D (disorder)
0.800
GeneticVariation
UNIPROT
Screening of the early growth response 2 gene in Japanese patients with Charcot-Marie-Tooth disease type 1.
12736090
2003
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
rs104894159
×
Entrez Id:
1959
Gene Symbol:
EGR2
EGR2
Charcot-Marie-Tooth disease, Type 1D (disorder)
0.800
GeneticVariation
UNIPROT
Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation.
10762521
2000
rs104894161
×
Entrez Id:
1959
Gene Symbol:
EGR2
EGR2
Charcot-Marie-Tooth disease, Type 1D (disorder)
0.800
GeneticVariation
UNIPROT
Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation.
10762521
2000
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
rs104894158
×
Entrez Id:
1959
Gene Symbol:
EGR2
EGR2
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE
0.800
GeneticVariation
UNIPROT
Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies.
9537424
1998
rs104894159
×
Entrez Id:
1959
Gene Symbol:
EGR2
EGR2
Charcot-Marie-Tooth disease, Type 1D (disorder)
0.800
GeneticVariation
UNIPROT
Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies.
9537424
1998
rs104894161
×
Entrez Id:
1959
Gene Symbol:
EGR2
EGR2
Charcot-Marie-Tooth disease, Type 1D (disorder)
0.800
GeneticVariation
UNIPROT
Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies.
9537424
1998
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