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Entry Name Description Category Pathway Gene
H00120 Muscular dystrophy-dystroglycanopathy type A Muscular dystrophies due to reduced glycosylation of alpha-dystroglycan have emerged as a common group of conditions, now referred to as dystroglycanopathies. The phenotypic severity of dystroglycanopathy ... Inherited metabolic disorder (MDDGA1) POMT1 [HSA:10585] [KO:K00728]
(MDDGA2) POMT2 [HSA:29954] [KO:K00728]
(MDDGA3) POMGNT1 [HSA:55624] [KO:K09666]
(MDDGA4) FKTN [HSA:2218] [KO:K19872]
(MDDGA5) FKRP [HSA:79147] [KO:K19873]
(MDDGA6) LARGE [HSA:9215] [KO:K09668]
(MDDGA7) CRPPA [HSA:729920] [KO:K21031]
(MDDGA8) POMGNT2 [HSA:84892] [KO:K18207]
(MDDGA9) DAG1 [HSA:1605] [KO:K06265]
(MDDGA10) RXYLT1 [HSA:10329] [KO:K21052]
(MDDGA11) B3GALNT2 [HSA:148789] [KO:K09654]
(MDDGA12) POMK [HSA:84197] [KO:K17547]
(MDDGA13) B4GAT1 [HSA:11041] [KO:K21032]
(MDDGA14) GMPPB [HSA:29925] [KO:K00966]
H00593 Limb-girdle muscular dystrophy Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of inherited disorders characterized by progressive muscle weakness that begins from the proximal limb muscles. The disease is not congenital ... Nervous system disease; Musculoskeletal disease (LGMDD1) DNAJB6 [HSA:10049] [KO:K09512]
(LGMDD2) TNPO3 [HSA:23534] [KO:K15436]
(LGMDD3) HNRNPDL [HSA:9987] [KO:K13044]
(LGMDD4/R1) CAPN3 [HSA:825] [KO:K08573]
(LGMDR2) DYSF [HSA:8291] [KO:K18261]
(LGMDR3) SGCA [HSA:6442] [KO:K12565]
(LGMDR4) SGCB [HSA:6443] [KO:K12566]
(LGMDR5) SGCG [HSA:6445] [KO:K12564]
(LGMDR6) SGCD [HSA:6444] [KO:K12563]
(LGMDR7) TCAP [HSA:8557] [KO:K19879]
(LGMDR8) TRIM32 [HSA:22954] [KO:K10607]
(LGMDR9) FKRP [HSA:79147] [KO:K19873]
(LGMDR10) TTN [HSA:7273] [KO:K12567]
(LGMDR11) POMT1 [HSA:10585] [KO:K00728]
(LGMDR12) ANO5 [HSA:203859] [KO:K19480]
(LGMDR13) FKTN [HSA:2218] [KO:K19872]
(LGMDR14) POMT2 [HSA:29954] [KO:K00728]
(LGMDR15) POMGNT1 [HSA:55624] [KO:K09666]
(LGMDR16) DAG1 [HSA:1605] [KO:K06265]
(LGMDR17) PLEC [HSA:5339] [KO:K10388]
(LGMDR18) TRAPPC11 [HSA:60684] [KO:K20308]
(LGMDR19) GMPPB [HSA:29925] [KO:K00966]
(LGMDR20) CRPPA [HSA:729920] [KO:K21031]
(LGMDR21) POGLUT1 [HSA:56983] [KO:K13667]
(LGMDR23) LAMA2 [HSA:3908] [KO:K05637]
(LGMDR24) POMGNT2 [HSA:84892] [KO:K18207]
(LGMDR25) BVES [HSA:11149] [KO:K21108]
(LGMDR26) POPDC3 [HSA:64208] [KO:K26207]
(LGMDR27) JAG2 [HSA:3714] [KO:K21635]
(LGMDR28) HMGCR [HSA:3156] [KO:K00021]
(MDRCMTT) LIMS2 [HSA:55679] [KO:K23354]
(MRRSDC) TOR1AIP1 [HSA:26092] [KO:K23001]
H01959 Muscular dystrophy-dystroglycanopathy type C Muscular dystrophies due to reduced glycosylation of alpha-dystroglycan have emerged as a common group of conditions, now referred to as dystroglycanopathies. The phenotypic severity of dystroglycanopathy ... Inherited metabolic disorder (MDDGC1) POMT1 [HSA:10585] [KO:K00728]
(MDDGC2) POMT2 [HSA:29954] [KO:K00728]
(MDDGC3) POMGNT1 [HSA:55624] [KO:K09666]
(MDDGC4) FKTN [HSA:2218] [KO:K19872]
(MDDGC5) FKRP [HSA:79147] [KO:K19873]
(MDDGC7) CRPPA [HSA:729920] [KO:K21031]
(MDDGC8) POMGNT2 [HSA:84892] [KO:K18207]
(MDDGC9) DAG1 [HSA:1605] [KO:K06265]
(MDDGC12) POMK [HSA:84197] [KO:K17547]
(MDDGC14) GMPPB [HSA:29925] [KO:K00966]
(MDDGC15) DPM3 [HSA:54344] [KO:K09659]
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