Disease phenotype | OMIM | Gene symbol (chromosome) protein |
| Edstrom myopathy | ? - (2q24-31) | |
| Electron transfer flavoprotein, Beta polypeptide | ETFB (19q13.3-q13.4) electron-transfer-flavoprotein, beta polypeptide | |
| Emery-Dreifuss Autosomal recessive | LMNA (1q21.2-q21.3) lamin A/C | |
| Emery-dreifuss muscular dystrophy 1 | EMD (Xq28) emerin | |
| Emery-dreifuss muscular dystrophy 4 | SYNE1 (6q25) spectrin repeat containing, nuclear envelope 1 (nesprin 1) | |
| Emery-dreifuss muscular dystrophy 5 | SYNE2 (14q23.2) spectrin repeat containing, nuclear envelope 2 (nesprin 2) | |
| Emery-dreifuss muscular dystrophy 6 | FHL1 (Xq26.3) four and a half LIM domain 1 | |
| Emery-Dreifuss muscular dystrophy, autosomal dominant | LMNA (1q21.2-q21.3) lamin A/C | |
| Endocardial fibroelastosis-2 | TAZ (Xq28) tafazzin | |
| Enolase deficiency | ENO3 (17pter-p11) enolase 3, beta muscle specific | |
| Epidermolysis bullosa simplex, Ogna type | PLEC1 (8q24) plectin 1, intermediate filament binding protein 500kDa | |
| episodic ataxia type 5, included | CACNB4 (2q22-q23) | |
| episodic ataxia type 6 | SLC1A3 (5p13) EAAT1 (excitatory amino acid transporter type 1) | |
| episodic ataxia type-3 | ? - (1q42) | |
| episodic ataxia type-7 | ? - (19q13) | |
| Episodic ataxia with myokymia | KCNA1 (12p13) potassium voltage-gated channel, shaker-related subfamily, member 1 | |
| Episodic ataxia, type 2 | CACNA1A (19p13.2-p13.1) calcium channel, voltage-dependent, P/Q type, alpha 1A subunit | |
| episodic muscle weakness, x-linked | ? - (Xp22.3) | |
| Escobar syndrome (multiple pterygium syndrome) | CHRNG (2q33-q34) cholinergic receptor, nicotinic, gamma polypeptide | |
| Exertional myoglobinuria due to deficiency of LDH-A | LDHA (11p15.4) lactate dehydrogenase A |