Protein | Gene Symbol | All allelic disease phenotypes - locus/disease symbols |
| EAAT1 (excitatory amino acid transporter type 1) | | * episodic ataxia type 6 - EA6 (13.33)
|
early growth response 2 protein | | * 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)
| electron-transfer-flavoprotein, alpha polypeptide | | * Multiple acyl-CoA dehydrogenase deficiency - MADD (9.18)
| electron-transfer-flavoprotein, beta polypeptide | | * Electron transfer flavoprotein, Beta polypeptide - ETFB (9.19)
| electron-transferring-flavoprotein dehydrogenase | | * Gluatric aciduria IIc, included - GAIIC (9.20, 9.24)
* Multiple acyl-coa dehydrogenase deficiency - MADD (9.20, 9.24)
| emerin | | * Emery-dreifuss muscular dystrophy 1 - EDMD1 (1.2)
| enolase 3, beta muscle specific | | * Enolase deficiency - ENO3 (9.14)
* Glycogen storage disease XIII - GSD13 (9.14)
| eyes absent 4 | | * Deafness, autosomal dominant nonsyndromic sensorineural 10 - DFNA10 (10.36)
* Cardiomyopathy, dilated, 1J - CMD1J (10.36)
|