Search Result |
Top |
| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02587 | Luo-Schoch-Yamamoto syndrome | ... developmental delay, severe intellectual disabilities, behavioral problems, seizures, feeding difficulties and dysmorphic features. RNF2 encodes a catalytic subunit of the polycomb repressive complex 1 (PRC1). | Congenital malformation | RNF2 [HSA:6045] [KO:K10695] | |
| H02611 | Turnpenny-Fry syndrome | ... been reported that mutations in PCGF2 cause this syndrome. PCGF2 plays a role in embryogenesis, cell proliferation, histone modification, and chromatin remodeling via polycomb repressive complex 1 (PRC1). | Congenital malformation | PCGF2 [HSA:7703] [KO:K11460] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |