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) 		A 0.830 CausalMutation CLINVAR
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
dbSNP: rs104894161
rs104894161
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C1843247
Disease:
Charcot-Marie-Tooth disease, Type 1D (disorder) 		A 0.800 CausalMutation CLINVAR
dbSNP: rs104894160
rs104894160
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C0751036
Disease:
Hereditary Motor and Sensory Neuropathy Type I 		A 0.710 CausalMutation CLINVAR
dbSNP: rs104894158
rs104894158
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C4082197
Disease:
Charcot-Marie-Tooth disease type 4 		T 0.700 CausalMutation CLINVAR
dbSNP: rs104894159
rs104894159
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C0751036
Disease:
Hereditary Motor and Sensory Neuropathy Type I 		A 0.700 CausalMutation CLINVAR
dbSNP: rs104894161
rs104894161
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C4016028
Disease:
DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL DOMINANT 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121434563
rs121434563
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C4016028
Disease:
DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL DOMINANT 		T 0.700 CausalMutation CLINVAR
dbSNP: rs281865136
rs281865136
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C0751036
Disease:
Hereditary Motor and Sensory Neuropathy Type I 		T 0.700 CausalMutation CLINVAR
dbSNP: rs281865138
rs281865138
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C0751036
Disease:
Hereditary Motor and Sensory Neuropathy Type I 		C 0.700 CausalMutation CLINVAR
dbSNP: rs281865139
rs281865139
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C0751036
Disease:
Hereditary Motor and Sensory Neuropathy Type I 		T 0.700 CausalMutation CLINVAR
dbSNP: rs751448371
rs751448371
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C0751036
Disease:
Hereditary Motor and Sensory Neuropathy Type I 		T 0.700 GeneticVariation CLINVAR
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: rs104894160
rs104894160
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C1843247
Disease:
Charcot-Marie-Tooth disease, Type 1D (disorder) 		0.700 GeneticVariation UNIPROT Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. 9537424 1998
dbSNP: rs281865137
rs281865137
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C1843247
Disease:
Charcot-Marie-Tooth disease, Type 1D (disorder) 		0.700 GeneticVariation UNIPROT Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. 9537424 1998
dbSNP: rs864622273
rs864622273
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C0751036
Disease:
Hereditary Motor and Sensory Neuropathy Type I 		T 0.700 CausalMutation CLINVAR 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: 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: 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: rs104894160
rs104894160
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C1843247
Disease:
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
dbSNP: rs104894161
rs104894161
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C0751036
Disease:
Hereditary Motor and Sensory Neuropathy Type I 		A 0.700 CausalMutation CLINVAR Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype. 10371530 1999