EGR2, early growth response 2, 1959

N. diseases: 133; N. variants: 23
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894161
rs104894161
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C0011195
Disease:
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
dbSNP: rs104894161
rs104894161
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C0011195
Disease:
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
dbSNP: rs104894161
rs104894161
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C0011195
Disease:
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
dbSNP: rs104894161
rs104894161
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C0011195
Disease:
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
dbSNP: rs104894161
rs104894161
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C0011195
Disease:
Dejerine-Sottas Disease (disorder)
A 0.830 CausalMutation CLINVAR
dbSNP: rs104894158
rs104894158
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C4721436
Disease:
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE
0.800 GeneticVariation UNIPROT Homozygous deletion of an EGR2 enhancer in congenital amyelinating neuropathy. 22522483 2012
dbSNP: rs224278
rs224278
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C0553580
Disease:
Ewings sarcoma
C 0.800 GeneticVariation GWASDB Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma. 22327514 2012
dbSNP: rs224278
rs224278
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C0553580
Disease:
Ewings sarcoma
C 0.800 GeneticVariation GWASCAT Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma. 22327514 2012
dbSNP: rs104894159
rs104894159
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C1843247
Disease:
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
dbSNP: rs104894161
rs104894161
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C1843247
Disease:
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
dbSNP: rs104894159
rs104894159
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C1843247
Disease:
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
dbSNP: rs104894161
rs104894161
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C1843247
Disease:
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
dbSNP: rs104894159
rs104894159
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C1843247
Disease:
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
dbSNP: rs104894161
rs104894161
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C1843247
Disease:
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
dbSNP: rs104894159
rs104894159
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C1843247
Disease:
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
dbSNP: rs104894161
rs104894161
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C1843247
Disease:
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
dbSNP: rs104894159
rs104894159
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C1843247
Disease:
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
dbSNP: rs104894161
rs104894161
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C1843247
Disease:
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
dbSNP: rs104894159
rs104894159
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C1843247
Disease:
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
dbSNP: rs104894161
rs104894161
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C1843247
Disease:
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
dbSNP: rs104894158
rs104894158
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C4721436
Disease:
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
dbSNP: rs104894159
rs104894159
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C1843247
Disease:
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
dbSNP: rs104894161
rs104894161
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C1843247
Disease:
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
dbSNP: rs104894158
rs104894158
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C4721436
Disease:
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE
T 0.800 CausalMutation CLINVAR
dbSNP: rs104894159
rs104894159
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C1843247
Disease:
Charcot-Marie-Tooth disease, Type 1D (disorder)
A 0.800 CausalMutation CLINVAR