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
Reccurrent myoglobinuria, autosomal recessive (9.25)
LPIN1 (2p25.1)
Lipin 1 (phosphatidic acid phosphatase 1)

Refsum disease, adult (13.55)
PHYH (10q13)
phytanoyl-CoA 2-hydroxylase

Refsum disease, adult (13.56)
PEX7 (6q21-q22)
peroxisomal biogenesis factor 7

Restrictive cardiomyopathy, 2 (10.67)
? - (10)
restrictive dermopathy (1.4, 1.12, 1.5, 10.26, 14.51)
LMNA (1q21.2-q21.3)
lamin A/C


rigid spine muscular dystrophy 1 (1.3, 5.18, 5.19, 2.15, 5.20)
FHL1 (Xq26.3)
four and a half LIM domain 1

Rigid spine syndrome (2.14, 5.3, 3.10, 3.21)
SEPN1 (1p36.13)
Selenoprotein N1

Rippling muscle disease (1.13, 6.6, 5.17, 6.7, 4.11, 10.95, 10.16)
CAV3 (3p25)
caveolin 3

Rippling muscle disease (6.5)
? - (1q41)
Romano-Ward syndrome (10.99, 10.87, 7.17, 7.16, 10.103, 10.97)
KCNQ1 (11p15.5)
potassium voltage-gated channel, KQT-like subfamily, member 1