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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02758 | ACCES syndrome | ... aplasia cutis congenita and ectrodactyly as specific features. It has been reported that mutations in UBA2 cause this syndrome. UBA2 plays a key role in the post-translational modification of protein (SUMOylation) ... | Congenital malformation | UBA2 [HSA:10054] [KO:K10685] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |