Disease table

A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
T
U
V
W
X
Y
Z

Disease phenotype
OMIM
Gene symbol (chromosome)
protein
Early onset calf distal myopathy (1.30, 4.13)
ANO5 (11p14-12)
anoctamin 5

Early onset distal myopathy with KLHL9 mutations (4.14)
KLHL9 (9p21.2-p22.3)
kelch-like homologue 9

Electron transfer flavoprotein, Beta polypeptide (9.19)
ETFB (19q13.3-q13.4)
electron-transfer-flavoprotein, beta polypeptide

Emery-Dreifuss Autosomal recessive (1.4, 1.12, 1.5, 10.26, 14.51)
LMNA (1q21.2-q21.3)
lamin A/C


Emery-dreifuss muscular dystrophy 1 (1.2)
EMD (Xq28)
emerin


Emery-dreifuss muscular dystrophy 4 (1.6, 13.47, 16.14, 10.64)
SYNE1 (6q25)
spectrin repeat containing, nuclear envelope 1 (nesprin 1)

Emery-dreifuss muscular dystrophy 6 (1.3, 5.18, 5.19, 2.15, 5.20)
FHL1 (Xq26.3)
four and a half LIM domain 1

Emery-Dreifuss muscular dystrophy, autosomal dominant (1.4, 1.12, 1.5, 10.26, 14.51)
LMNA (1q21.2-q21.3)
lamin A/C


Endocardial fibroelastosis-2 (10.54, 10.69)
TAZ (Xq28)
tafazzin

Enolase deficiency (9.14)
ENO3 (17pter-p11)
enolase 3, beta muscle specific

Epidermolysis bullosa simplex associated with late-onset muscular dystrophy (5.14, 1.34, 11.22)
PLEC1 (8q24)
plectin 1, intermediate filament binding protein 500kDa

episodic ataxia type 5, included (13.32)
CACNB4 (2q22-q23)
calcium channel, voltage-dependent, beta 4 subunit

episodic ataxia type 6 (13.33)
SLC1A3 (5p13)
EAAT1 (excitatory amino acid transporter type 1)

episodic ataxia type-3 (13.31)
? - (1q42)
episodic ataxia type-7 (13.34)
? - (19q13)
Episodic ataxia with myokymia (7.12, 13.29)
KCNA1 (12p13)
potassium voltage-gated channel, shaker-related subfamily, member 1

Episodic ataxia, type 2 (7.9, 13.6, 13.35, 7.10, 13.30)
CACNA1A (19p13.2-p13.1)
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit

episodic muscle weakness, x-linked (5.21)
? - (Xp22.3)
Escobar syndrome (multiple pterygium syndrome) (11.21)
CHRNG (2q33-q34)
cholinergic receptor, nicotinic, gamma polypeptide

Exertional myoglobinuria due to deficiency of LDH-A (9.13)
LDHA (11p15.4)
lactate dehydrogenase A