Protein | Gene Symbol | All allelic disease phenotypes - locus/disease symbols |
| EAAT1 (excitatory amino acid transporter type 1) | |  * episodic ataxia type 6 - EA6 (13.51)
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Early growth response 2 protein | | * Dejerine-Sottas syndrome - DSS (14.4, 14.34, 14.52)
* Charcot-Marie-Tooth neuropathy Type 4E - CMT4E (14.4, 14.34, 14.52)
* Neuropathy, congenital hypomyelinating, 1 - CHN1 (14.4, 14.34, 14.52)
* Charcot-Marie-Tooth disease, type 1D - CMT1D (14.4, 14.34, 14.52)
| Ectonucleoside triphosphate diphosphohydrolase 1 | | * Spastic paraplegia 64, autosomal recessive - SPG64 (15.64)
| Elastin microfibril interfacer 1 | | * Neuronopathy, distal hereditary motor, autosomal dominant 10 - HMND10 (12.33)
| Electron-transfer-flavoprotein, alpha polypeptide(M) | | * Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIA) - GAIIA (9.21)
| Electron-transfer-flavoprotein, beta polypeptide(M) | | * Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIB) - GAIIB (9.22)
| Electron-transferring-flavoprotein dehydrogenase(M) | | * Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIC) - GAIIC (9.23)
* Multiple acyl-coa dehydrogenase deficiency - MADD (9.23)
| ELOVL fatty acid elongase 4 | | * Spinocerebellar ataxia 34 - SCA34 (13.31)
| ELOVL fatty acid elongase 5 | | * Spinocerebellar ataxia 38 - SCA38 (13.35)
| Emerin | | * Emery-dreifuss muscular dystrophy 1 - EDMD1 (1.2)
| Endonuclease G, mitochondrial | | * Mitochondrial myopathy and multiple mtDNA deletions - (16.89)
| Endoplasmic reticulum lipid raft-associated protein 1 (Erlin-1) | | * Spastic paraplegia 62 autosomal recessive - SPG62 (15.62)
| Endothelin-converting enzyme like 1 | | * Arthrogryposis, distal, type 5D - DA5D (16.18)
| Enolase 3, beta muscle specific | | * Enolase deficiency - ENO3 (9.16)
* Glycogen storage disease XIII - GSD13 (9.16)
| ER lipid raft associated 2 | | * Spastic paraplegia 18 - SPG18 (15.10, 15.33)
* Spastic paraplegia 18A7, autosomal dominant - SPG18A (15.10, 15.33)
| Eukaryotic translation elongation factor 2 | | * Spinocerebellar ataxia 26 - SCA26 (13.23)
| Exosome component 9 | | * Pontocerebellar hypoplasia, type 1D - PCH1D (12.9)
| Exosome component 3 | | * Spinal muscular atrophy with pontocerebellar hypoplasia, type 1b - PCH1B (12.99)
| Exosome component 8 | | * Spinal muscular atrophy and cerebellar hypoplasia - (12.8)
| Eyes absent 4 | | * Deafness, autosomal dominant nonsyndromic sensorineural 10 - DFNA10 (10.48)
* Cardiomyopathy, dilated, 1J - CMD1J (10.48)
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