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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00703 |
Myosin storage myopathy Hyaline body myopathy |
... associated with 4 missense mutations in the MYH7 gene, which encodes slow/beta-cardiac myosin heavy chain (MyHC). The disease causing mutations in MYH7 are located in the alpha-helical coiled-coil tail. | Nervous system disease; Musculoskeletal disease | MYH7 [HSA:4625] [KO:K17751] | |
| H02259 | Stormorken syndrome | ... headache, and ichthyosis. The STIM1 mutation found in Stormorken syndrome patients is located in the coiled-coil 1 domain, which might play a role in keeping STIM1 inactive. STIM1 encodes a major calcium ... | Hematologic disease | STIM1 [HSA:6786] [KO:K16059] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |