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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02961 | Guillouet-Gordon syndrome | ... and craniofacial, cardiac, and limb malformations. It has been reported that biallelic mutations in MED16 cause this syndrome. MED16 is a subunit of the evolutionarily conserved Mediator complex that regulates ... | Congenital malformation | MED16 [HSA:10025] [KO:K15159] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |