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
Barth syndrome (10.54, 10.69)
TAZ (Xq28)
tafazzin

Becker muscular distrophy (1.1, 10.55)
DMD (Xp21.2)
dystrophin


Bethlem myopathy (2.18, 2.21)
COL6A3 (2q37)
alpha 3 type VI collagen

Bethlem myopathy (2.19, 2.16)
COL6A1 (21q22.3)
alpha 1 type VI collagen

Bethlem myopathy (2.22, 2.17, 2.20, 2.23)
COL6A2 (21q22.3)
alpha 2 type VI collagen

Breast cancer, male, with Reifenstein syndrome (12.32)
AR (Xq11.2-q12)
androgen receptor

Brody myopathy (6.9)
ATP2A1 (16p12.1)
ATPase, Ca++ transporting, fast twitch 1

Brugada syndrome (10.89, 7.7, 10.31, 10.111, 10.116)
SCN5A (3p21)
voltage-gated sodium channel type V alpha

brugada syndrome 2 (10.112)
GPD1L (3p22.3)
glycerol-3-phosphate dehydrogenase 1-like

brugada syndrome 3 (10.94, 10.113)
CACNA1C (12p13.3)
calcium channel, voltage-dependent, L type, alpha 1C subunit

brugada syndrome 4 (10.114)
CACNB2 (10p12)
calcium channel, voltage-dependent, beta 2 subunit