EGR2, early growth response 2, 1959

N. diseases: 133; N. variants: 23
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		0.940 Biomarker disease BEFREE EGR2 mutations typically cause different forms of demyelinating neuropathy, that is, Charcot-Marie-Tooth type 1D (CMT1D), Dejerine-Sottas Syndrome (DSS), and Congenital Hypomyelinating Neuropathy (CHN). 30843326 2019
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		0.940 Biomarker disease MGD Congenital hypomyelinating neuropathy with lethal conduction failure in mice carrying the Egr2 I268N mutation. 19244508 2009
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		0.940 Biomarker disease MGD Analysis of congenital hypomyelinating Egr2Lo/Lo nerves identifies Sox2 as an inhibitor of Schwann cell differentiation and myelination. 15695336 2005
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		0.940 Biomarker disease MGD Nab proteins are essential for peripheral nervous system myelination. 16136673 2005
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		0.940 GermlineCausalMutation disease ORPHANET Furthermore, in contrast to patients with typical DSN, patients with the EGR2 R359W mutation have more respiratory compromise and cranial nerve involvement. 11523566 2001
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		0.940 GeneticVariation disease BEFREE EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy. 11523566 2001
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		0.940 GeneticVariation disease 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
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		0.940 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
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		0.940 GeneticVariation disease 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
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		0.940 Biomarker disease GENOMICS_ENGLAND
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		0.940 Biomarker disease CTD_human
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		0.940 Biomarker disease GENOMICS_ENGLAND
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		0.940 CausalMutation disease CLINVAR
CUI: C4721436
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation disease UNIPROT Homozygous deletion of an EGR2 enhancer in congenital amyelinating neuropathy. 22522483 2012
CUI: C4721436
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE 		0.800 Biomarker disease MGD Congenital hypomyelinating neuropathy with lethal conduction failure in mice carrying the Egr2 I268N mutation. 19244508 2009
CUI: C4721436
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE 		0.800 Biomarker disease MGD Nab proteins are essential for peripheral nervous system myelination. 16136673 2005
CUI: C4721436
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE 		0.800 Biomarker disease MGD Analysis of congenital hypomyelinating Egr2Lo/Lo nerves identifies Sox2 as an inhibitor of Schwann cell differentiation and myelination. 15695336 2005
CUI: C4721436
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation disease UNIPROT Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. 9537424 1998
CUI: C4721436
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE 		0.800 CausalMutation disease CLINVAR
CUI: C4721436
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C4721436
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C4721436
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C1843247
Disease: Charcot-Marie-Tooth disease, Type 1D (disorder)
Charcot-Marie-Tooth disease, Type 1D (disorder) 		0.710 GeneticVariation disease BEFREE Mutations of EGR2 have been found in patients with congenital hypomyelinating neuropathy or Charcot-Marie-Tooth disease type 1D. 22522483 2012
CUI: C1843247
Disease: Charcot-Marie-Tooth disease, Type 1D (disorder)
Charcot-Marie-Tooth disease, Type 1D (disorder) 		0.710 GeneticVariation disease UNIPROT Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family. 15947997 2005
CUI: C1843247
Disease: Charcot-Marie-Tooth disease, Type 1D (disorder)
Charcot-Marie-Tooth disease, Type 1D (disorder) 		0.710 GeneticVariation disease UNIPROT Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. 15241803 2004