Limb-girdle muscular dystrophy-dystroglycanopathy

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