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
Ullrich congenital muscular dystrophy
(2.19, 2.16)
254090
COL6A1
(21q22.3)
alpha 1 type VI collagen
Ullrich congenital muscular dystrophy
(2.18, 2.21)
254090
COL6A3
(2q37)
alpha 3 type VI collagen
Ullrich scleroatonic muscular dystrophy
(2.22, 2.17, 2.20, 2.23)
254090
COL6A2
(21q22.3)
alpha 2 type VI collagen