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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H00590 | Congenital muscular dystrophies (CMD/MDC) | Congenital muscular dystrophies (CMDs) are a heterogeneous group of inherited disorders characterized by muscle weakness from birth and variable clinical manifestations of the eye and central nervous system ... | Nervous system disease; Musculoskeletal disease |
(ITGA7-deficient CMD) ITGA7 [HSA:3679] [KO:K06583] (LMNA-deficient CMD) LMNA [HSA:4000] [KO:K12641] (MDCDC) TRIP4 [HSA:9325] [KO:K23398] (MDCMC) CHKB [HSA:1120] [KO:K14156] (MDCCAID) INPP5K [HSA:51763] [KO:K24222] (MDRP) BET1 [HSA:10282] [KO:K08504] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |