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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]
H02307 Muscular dystrophy-dystroglycanopathy 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 POMT1 [HSA:10585] [KO:K00728]
POMT2 [HSA:29954] [KO:K00728]
POMGNT1 [HSA:55624] [KO:K09666]
FKTN [HSA:2218] [KO:K19872]
FKRP [HSA:79147] [KO:K19873]
LARGE [HSA:9215] [KO:K09668]
ISPD [HSA:729920] [KO:K21031]
GTDC2 [HSA:84892] [KO:K18207]
DAG1 [HSA:1605] [KO:K06265]
TMEM5 [HSA:10329] [KO:K21052]
B3GALNT2 [HSA:148789] [KO:K09654]
POMK [HSA:84197] [KO:K17547]
B3GNT1 [HSA:11041] [KO:K21032]
GMPPB [HSA:29925] [KO:K00966]
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