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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H02523 | Genitourinary and/or brain malformation syndrome | Genitourinary and/or brain malformation syndrome (GUBS) is caused by mutations in PPP1R12A. The brain abnormalities are variable. PPP1R12A encodes a component of myosin phosphatase, a key enzyme instrumental ... | Congenital malformation | PPP1R12A [HSA:4659] [KO:K06270] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |