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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02697 | Long-Olsen-Distelmaier syndrome | ... associated with hepatopathy and brain abnormalities. It has been reported that gain-of-function mutations in RRAGC cause this disease. RRAGC encodes a Rag protein that is part of a unique family of small GTPases ... | Congenital malformation | RRAGC [HSA:64121] [KO:K16186] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |