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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02220 |
MEDNIK syndrome Erythrokeratodermia variabilis type 3 |
... ichthyosis, keratodermia) is a rare autosomal recessive neurocutaneous disease. MEDNIK syndrome is caused by AP1S1 gene mutations, encoding the subunit of the AP-1 complex, which plays a crucial role in clathrin ... | Congenital malformation | AP1S1 [HSA:1174] [KO:K12394] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |