Disease Term Disease ID Gene Symbol References
Ullrich congenital muscular dystrophy 1 C0410179 COL6A1 24038877, 17785674, 25535305, 15689448, 16130093, 18366090, 23738969
COL6A2 19564581, 18366090, 11381124, 15563506, 15689448
COL6A3 18366090, 15689448, 15563506, 19564581, 11992252
COL12A1 24334604
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT C4225636 COL6A1
COL6A2
COL6A3
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2 C4225314 COL12A1 24334769, 24334604, 27159402, 27348394