EGR2, early growth response 2, 1959

N. diseases: 133; N. variants: 23
Disease: Peripheral Nervous System Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.150 GeneticVariation group BEFREE Mutations in the EGR2 gene cause a spectrum of Charcot-Marie-Tooth disease and related inherited peripheral neuropathies. 17717711 2007
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.150 AlteredExpression group BEFREE Mutations that disrupt Egr2 transcriptional activity cause severe demyelinating peripheral neuropathies. 16136673 2005
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.150 AlteredExpression group BEFREE Recently, it was reported that EGR2 is directly involved in the transcriptional regulation of Connexin 32, a myelin gene frequently mutated in peripheral neuropathies. 12609493 2003
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.150 GeneticVariation group BEFREE Therefore, we hypothesized that mutations in the EGR2-interacting domains of NAB1 and NAB2 might be associated with the pathogenesis of inherited peripheral neuropathies in currently unexplained cases. 12030330 2002
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.150 GeneticVariation group BEFREE A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23. 10915613 2000
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.150 Biomarker group HPO