Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
0.300 GeneticVariation disease BEFREE We generated induced pluripotent stem cells (iPSCs) from healthy controls and patients with demyelinating CMT caused by duplication in peripheral myelin protein 22 kDa (PMP22) or point mutations in myelin protein zero (MPZ) or early growth response 2 (EGR2). iPSCs were differentiated into neural crest cells, progenitors of Schwann cells, followed by purification using the neural crest cell markers p75 and human natural killer-1. 28704293 2017
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
0.300 Biomarker disease BEFREE This study broadens the phenotype of the EGR2-related neuropathies and suggests that the genetic testing of patients suffering from axonal CMT should include the EGR2 gene. 26204789 2015
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
0.300 Biomarker disease BEFREE US of median, sural and great auricular nerves and the C6 nerve root was performed in patients with CMT1A (n=20), MPZ-associated CMT (n=3), NEFL-associated CMT (n=4), EGR2-associated CMT (n=1), ARHGEF10-associated CMT (n=1) and in controls (n=30). 25091364 2015
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
0.300 GeneticVariation disease BEFREE Charcot-Marie-Tooth neuropathy due to a novel EGR2 gene mutation with mild phenotype--usefulness of human mapping chip linkage analysis in a Czech family. 22546699 2012
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
0.300 GeneticVariation disease BEFREE Vincristine exacerbates asymptomatic Charcot-Marie-tooth disease with a novel EGR2 mutation. 22271166 2012
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
0.300 GeneticVariation disease BEFREE Here, we report on a heterozygous mutation in EGR2 (c.1160C>A), which results in threonine at position 387 being changed to asparagine, in a family with a mild demyelinating form of adult-onset CMT. 22734907 2012
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
0.300 Biomarker disease BEFREE The CMT1A duplication/HNPP deletion and point mutations in genes PMP22, MPZ, Cx32 and EGR2 implicated in the most common types of CMT disease were excluded. 18826755 2009
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
0.300 Biomarker disease BEFREE These studies describe a unique animal model of CMT, whereby weakness is due to conduction block or neuromuscular junction failure rather than secondary axon loss and demonstrate that the Egr2-Nab complex is critical for proper peripheral nerve myelination. 19244508 2009
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
0.300 Biomarker disease MGD These studies describe a unique animal model of CMT, whereby weakness is due to conduction block or neuromuscular junction failure rather than secondary axon loss and demonstrate that the Egr2-Nab complex is critical for proper peripheral nerve myelination. 19244508 2009
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
0.300 GeneticVariation disease BEFREE Mutations in the EGR2 gene cause a spectrum of Charcot-Marie-Tooth disease and related inherited peripheral neuropathies. 17717711 2007
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
0.300 Biomarker disease MGD Analysis of congenital hypomyelinating Egr2Lo/Lo nerves identifies Sox2 as an inhibitor of Schwann cell differentiation and myelination. 15695336 2005
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
0.300 GeneticVariation disease BEFREE Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family. 15947997 2005
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
0.300 Biomarker disease MGD Nab proteins are essential for peripheral nervous system myelination. 16136673 2005
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
0.300 GeneticVariation disease BEFREE We examined CMT1A duplication of 17p11.2-p12, mutations of PMP22, MPZ (P0), GJB1 (Cx32), EGR2 and NEFL genes in 57 Korean families with patients diagnosed as having Charcot-Marie-Tooth (CMT) disease. 15241803 2004
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
0.300 GeneticVariation disease BEFREE Here we show that the D355V mutation, associated with a CMT case combining axonal and demyelinating abnormalities, reduces three times the affinity of EGR2 to its consensus sequence and ten times its affinity to a sequence in the human Cx32 promoter. 11493034 2001
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
0.300 GeneticVariation disease BEFREE The authors describe a unique combination of cranial nerve deficits in one member of a Charcot-Marie-Tooth 1 family carrying an EGR2 mutation (Arg381His). 10762521 2000
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
0.300 GeneticVariation disease BEFREE A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease. 10502832 1999
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
0.300 GeneticVariation disease BEFREE Mutations in three genes coding for the myelin proteins peripheral myelin protein 22, myelin protein zero and connexin 32 and in one gene coding for the transcription factor early growth response 2 element are associated with Charcot-Marie-Tooth type 1 and 2, hereditary neuropathy with liability to pressure palsies, Dejerine-Sottas syndrome and congenital hypomyelination. 10541586 1999
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
0.300 GeneticVariation disease BEFREE In support of this hypothesis, we have identified one recessive and two dominant missense mutations in EGR2 (within regions encoding conserved functional domains) in patients with congenital hypomyelinating neuropathy (CHN) and a family with Charcot-Marie-Tooth type 1 (CMT1). 9537424 1998