Disease phenotype	OMIM	Gene symbol (chromosome) protein
Edstrom myopathy	603689	? - (2q24-31)
Electron transfer flavoprotein, Beta polypeptide	130410	ETFB (19q13.3-q13.4) electron-transfer-flavoprotein, beta polypeptide
Emery-Dreifuss Autosomal recessive	604929	LMNA (1q21.2-q21.3) lamin A/C
Emery-dreifuss muscular dystrophy 1	310300	EMD (Xq28) emerin
Emery-dreifuss muscular dystrophy 4	612998	SYNE1 (6q25) spectrin repeat containing, nuclear envelope 1 (nesprin 1)
Emery-dreifuss muscular dystrophy 5	612999	SYNE2 (14q23.2) spectrin repeat containing, nuclear envelope 2 (nesprin 2)
Emery-dreifuss muscular dystrophy 6	300696	FHL1 (Xq26.3) four and a half LIM domain 1
Emery-Dreifuss muscular dystrophy, autosomal dominant	181350	LMNA (1q21.2-q21.3) lamin A/C
Endocardial fibroelastosis-2	300394	TAZ (Xq28) tafazzin
Enolase deficiency	131370	ENO3 (17pter-p11) enolase 3, beta muscle specific
Epidermolysis bullosa simplex, Ogna type	131950	PLEC1 (8q24) plectin 1, intermediate filament binding protein 500kDa
episodic ataxia type 5, included	601949	CACNB4 (2q22-q23)
episodic ataxia type 6	612656	SLC1A3 (5p13) EAAT1 (excitatory amino acid transporter type 1)
episodic ataxia type-3	606554	? - (1q42)
episodic ataxia type-7	611907	? - (19q13)
Episodic ataxia with myokymia	160120	KCNA1 (12p13) potassium voltage-gated channel, shaker-related subfamily, member 1
Episodic ataxia, type 2	108500	CACNA1A (19p13.2-p13.1) calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
episodic muscle weakness, x-linked	300211	? - (Xp22.3)
Escobar syndrome (multiple pterygium syndrome)	265000	CHRNG (2q33-q34) cholinergic receptor, nicotinic, gamma polypeptide
Exertional myoglobinuria due to deficiency of LDH-A	150000	LDHA (11p15.4) lactate dehydrogenase A