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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02287 | Deafness, dystonia, and cerebral hypomyelination | ... intellectual disabilities, dystonia, sensorineural deafness, and white-matter changes. Mutations in BCAP31, that encodes BAP31, cause this disease. BAP31 is a chaperone protein involved in several pathways ... | Congenital malformation | BCAP31 [HSA:10134] [KO:K14009] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |