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
Oculopharyngeal muscular dystorphy
PABPN1 (14q11.2-q13)
poly(A) binding protein, nuclear 1

Oculopharyngeal muscular dystrophy, autosomal recessive
PABPN1 (14q11.2-q13)
poly(A) binding protein, nuclear 1

Olivopontocerebellar atrophy I
ATXN1 (6p23)
ataxin 1

Olivopontocerebellar atrophy II
ATXN2 (12q24.1)
ataxin 2

Olivopontocerebellar atrophy III
ATXN7 (3p21.1-p12)
ataxin 7

optic atrophy 1 and deafness
OPA1 (3q28-q29)
mitochondrial dynamin-like GTPase

Ossification of the posterior longitudinal spinal ligaments
COL6A1 (21q22.3)
alpha 1 type VI collagen