Disease Term Disease ID Gene Symbol References
FKRP-related limb-girdle muscular dystrophy R9 34515 FKRP
Fukutin-related limb-girdle muscular dystrophy R13 206554 FKTN
GMPPB-related limb-girdle muscular dystrophy R19 363623 GMPPB
ISPD-related limb-girdle muscular dystrophy R20 352479 CRPPA
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12 C4015184 POMK 24925318, 29910097, 24556084
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 C3714932 GMPPB 26310427, 25681410, 26133662, 23768512, 27766311, 25529582, 25770200, 27874200, 24780531, 28478914, 23894383, 28433477
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 C3150418 POMT2 24002165, 17559086, 17634419, 26495167, 27604308, 15894594, 18752264, 27421908, 17878297, 17878207, 27854218, 28980384, 17923109
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3 C3150417 POMGNT1 22554691, 19299310, 27421908, 17559086, 15466003, 25390965, 12588800, 18330676, 22419172, 21361872, 22323514, 24731844, 23326386, 17906881, 15236414, 24282183, 23689641, 28424332, 17030669, 19679478, 27604308, 17878207, 18195152, 11709191
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 C4015095 CRPPA 2328832, 23288328, 2522420, 23390185, 22522420, 22522421, 27234031, 26687144
CRPPA-AS1 22522420, 23288328
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8 C4748320 POMGNT2 27066570
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9 C3151184 DAG1 25934851, 25529582, 21388311, 30055862, 14678799, 25503980, 24052401
POMGNT1-related limb-girdle muscular dystrophy R15 206564 POMGNT1
POMT1-related limb-girdle muscular dystrophy R11 86812 POMT1
POMT2-related limb-girdle muscular dystrophy R14 206559 POMT2