EGR2, early growth response 2, 1959

N. diseases: 133; N. variants: 23
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL DOMINANT ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4749147
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL DOMINANT
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL DOMINANT 		0.200 Biomarker disease MGD Congenital hypomyelinating neuropathy with lethal conduction failure in mice carrying the Egr2 I268N mutation. 19244508 2009
CUI: C4749147
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL DOMINANT
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL DOMINANT 		0.200 Biomarker disease MGD Nab proteins are essential for peripheral nervous system myelination. 16136673 2005
CUI: C4749147
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL DOMINANT
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL DOMINANT 		0.200 Biomarker disease MGD Analysis of congenital hypomyelinating Egr2Lo/Lo nerves identifies Sox2 as an inhibitor of Schwann cell differentiation and myelination. 15695336 2005