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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00571 | Johanson-Blizzard syndrome | ... defects, and sensorineural hearing loss are additional clinical features of the disease. The causative gene, ubiquitin-protein ligase E3 component N-recognin 1 (UBR1), is involved in protein destabilization. | Congenital malformation | UBR1 [HSA:197131] [KO:K10625] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |