Disease Term Disease ID Gene Symbol References
Walker-Warburg congenital muscular dystrophy C0265221 COL4A1 21625620
DAG1 25529582, 22810924, 25934851
FKTN 18177472, 11165248, 19396839, 20961758, 9690476, 17878207, 18752264, 27065010, 19179078, 22275357, 25814170, 19266496, 17597323
LARGE1 21248746, 19299310, 21727005
RXYLT1 23519211, 23217329
POMT1 12369018, 16575835, 15637732, 19880378, 24304607, 28116189, 16717220, 22323514, 18752264, 24491487, 20816175, 17869517, 17878207, 22549409, 17559086
B4GAT1 23359570
GMPPB
POMT2 19880378
POMGNT1 19299310
FKRP 17336067, 23800702, 27848944, 14652796, 27439679, 23894383, 16786213, 27363342, 15580560, 16368217, 15833426, 17055682, 26320847, 22981120, 26436962, 16634037, 15574464, 18691338, 23591631, 12707425, 18639457, 16476814, 22908982, 17113772, 11592034, 18671187, 20236121, 14742276, 21220724, 28629604, 18060779, 23576288, 24447024, 15121789, 15060126, 14647208, 28931339, 12666124, 23420653, 11741828, 17446099, 19955119
POMK 23519211
POMGNT2 27066570, 22958903
B3GALNT2 23453667
CRPPA 22522420, 22522421, 24120487