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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01284 | Marinesco-Sjogren syndrome | ... is characterized by cerebellar ataxia, progressive myopathy and cataracts. Mutations in the endoplasmic reticulum associated co-chaperone SIL1/BAP were identified to be the major cause of this syndrome. | Nervous system disease | SIL1 [HSA:64374] [KO:K14001] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |