EGR2, early growth response 2, 1959

N. diseases: 133; N. variants: 23
Disease: Heart Block ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018794
Disease: Heart Block
Heart Block 		0.010 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