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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00700 | Centronuclear myopathy | ... DNM2 gene; and an autosomal recessive (AR) form presenting severe and moderate phenotypes caused by mutations in the BIN1 gene. Recently, heterozygous MYF6 mutation is reported to be associated with CNM. | Nervous system disease; Musculoskeletal disease |
(CNMX) MTM1 [HSA:4534] [KO:K01108] (CNM1) DNM2 [HSA:1785] [KO:K23484] (CNM2) BIN1 [HSA:274] [KO:K12562] (CNM3) MYF6 [HSA:4618] [KO:K18485] (CNM4) CCDC78 [HSA:124093] [KO:K23693] (CNM5) SPEG [HSA:10290] [KO:K08809] (CNM6) MAP3K20 [HSA:51776] [KO:K04424] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |