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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02632 | Houge-Janssens syndrome | Houge-Janssens syndrome (HJS) is PP2A-related neurodevelopmental disorder. PP2A enzymes play essential regulatory roles in cellular signalling and physiology, including in brain function and development ... | Congenital malformation |
(HJS1/MRD35) PPP2R5D [HSA:5528] [KO:K11584] (HJS2/MRD36) PPP2R1A [HSA:5518] [KO:K03456] (HJS3/NEDLBA) PPP2CA [HSA:5515] [KO:K04382] (HJS4) PPP2R5C [HSA:5527] [KO:K11584] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |