Search Result |
Top |
| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00616 | Bowen-Conradi syndrome | ... complications associated with reduced mobility and failure to thrive. Recently, a missense mutation in EMG1 was reported to be the cause of BCS. EMG1 is a putative methyltransferase that is required for biogenesis ... | Ribosomopathy | EMG1 [HSA:10436] [KO:K14568] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |