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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02488 | Cardiac-urogenital syndrome | ... congenital diaphragmatic hernia, congenital heart disease and genitourinary abnormalities. Mutations in MYRF have been identified in patients. MYRF is a membrane-associated transcription factor that plays ... | Congenital malformation | MYRF [HSA:745] [KO:K24768] | |
| H02489 | Mild encephalopathy with reversible myelin vacuolization | ... clinical finding of mild encephalitis/encephalopathy with a reversible splenial lesion (MERS). Mutations in MYRF have been identified in patients. MYRF is a critical transcriptional regulator required for CNS ... | Nervous system disease | MYRF [HSA:745] [KO:K24768] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |