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Entry Name Description Category Pathway Gene
H01960 Muscular dystrophy-dystroglycanopathy type B 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 (MDDGB1) POMT1 [HSA:10585] [KO:K00728]
(MDDGB2) POMT2 [HSA:29954] [KO:K00728]
(MDDGB3) POMGNT1 [HSA:55624] [KO:K09666]
(MDDGB4) FKTN [HSA:2218] [KO:K19872]
(MDDGB5/MDC1C) FKRP [HSA:79147] [KO:K19873]
(MDDGB6/MDC1D) LARGE1 [HSA:9215] [KO:K09668]
(MDDGB14) GMPPB [HSA:29925] [KO:K00966]
(MDDGB15) DPM3 [HSA:54344] [KO:K09659]
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