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Entry | Name | Description | Category | Pathway | Gene |
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H02345 | Autosomal recessive peripheral neuropathy (PNRIID) | ... with mild intellectual disability, strabismus, and ophthalmoparesis. It has been reported that PNRIID is caused by mutations in the MCM3AP, encoding the germinal center associated nuclear protein (GANP). | Nervous system disease | MCM3AP [HSA:8888] [KO:K24317] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |