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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] |
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| H02238 | Spinal muscular atrophy with congenital bone fractures | ... fractures (SMABF) is a rare autosomal recessive disorder. It has been reported that mutations in two genes (TRIP4 and ASCC1) are associated with this disease. Both TRIP4 and ASCC1 encode subunits of the nuclear ... | Musculoskeletal disease |
(SMABF1) TRIP4 [HSA:9325] [KO:K23398] (SMABF2) ASCC1 [HSA:51008] [KO:K18666] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |