Gene symbol and protein	Gene Location	All allelic disease phenotypes - locus/disease symbols
EGR2 early growth response 2 protein	10q21.1	* Dejerine-Sottas neuropathy - DSN (14.4, 14.20, 14.33) * Charcot-Marie-Tooth neuropathy Type 4E - CMT4E (14.4, 14.20, 14.33) * Neuropathy, congenital hypomyelinating - CHN (14.4, 14.20, 14.33) * Charcot-Marie-Tooth disease, type 1D - CMT1D (14.4, 14.20, 14.33)
EMD emerin	Xq28	* Emery-dreifuss muscular dystrophy 1 - EDMD1 (1.2)
ENO3 enolase 3, beta muscle specific	17pter-p11	* Enolase deficiency - ENO3 (9.14) * Glycogen storage disease XIII - GSD13 (9.14)
ERBB3 v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)	12q13	* Lethal congenital contracture syndrome 2 - LCCS2 (12.34)
ETFA electron-transfer-flavoprotein, alpha polypeptide	15q23-q25	* Multiple acyl-CoA dehydrogenase deficiency - MADD (9.18)
ETFB electron-transfer-flavoprotein, beta polypeptide	19q13.3-q13.4	* Electron transfer flavoprotein, Beta polypeptide - ETFB (9.19)
ETFDH electron-transferring-flavoprotein dehydrogenase	4q32-q35	* Gluatric aciduria IIc, included - GAIIC (9.20, 9.24) * Multiple acyl-coa dehydrogenase deficiency - MADD (9.20, 9.24)
EYA4 eyes absent 4	6q23-24	* Deafness, autosomal dominant nonsyndromic sensorineural 10 - DFNA10 (10.36) * Cardiomyopathy, dilated, 1J - CMD1J (10.36)