Disease table



Disease phenotype
OMIM
Gene symbol (chromosome)
protein
Ullrich congenital muscular dystrophy (2.2, 2.6, 1.46, 1.17)
254090
COL6A1 (21q22.3)
Alpha 1 type VI collagen



Ullrich congenital muscular dystrophy (2.8, 2.4, 1.48, 1.19)
254090
COL6A3 (2q37)
Alpha 3 type VI collagen



Ullrich congenital muscular dystrophy 2 (2.9, 2.10, 2.11)
616470
COL12A1 (6q13-q14)
Collagen type XII alpha 1 chain



Ullrich scleroatonic muscular dystrophy (2.3, 2.5, 2.7, 2.12, 1.47, 1.18)
254090
COL6A2 (21q22.3)
Alpha 2 type VI collagen