Disease Term Disease ID Gene Symbol References
Muscle eye brain disease C0457133 DAG1
FKTN 17878207
LARGE1 19067344, 21248746
RXYLT1
POMT1 17878207, 19299310
B4GAT1
GMPPB 23768512
POMT2 19299310, 17878207
POMGNT1 17030669, 12788071, 27493216, 11709191, 15466003, 17154333, 17559086, 19299310, 18330676, 24731844, 22522420, 25390965, 23326386, 19679478, 22323514, 21361872, 12588800, 16427280, 17906881, 22554691, 15236414, 25525159, 23453855, 12849864, 19067344, 20215985, 23689641, 17878207
FKRP 19299310, 15121789
POMK
POMGNT2
B3GALNT2 23453667
CRPPA 22522421, 22522420
Muscle-eye-brain disease 588 LARGE1
POMGNT1
POMT1
POMT2
FKTN
FKRP
B3GALNT2
GMPPB