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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02532 | Proteasome-associated autoinflammatory syndrome | Proteasome-associated autoinflammatory syndrome (PRAAS) is also known as Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE). PRAAS is a rare autoinflammatory ... | Immune system disease |
(PRAAS1) PSMB8 [HSA:5696] [KO:K02740] (PRAAS2) POMP [HSA:51371] [KO:K11599] (PRAAS3) PSMB4 [HSA:5692] [KO:K02736] (PRAAS3/PRAAS6) PSMB9 [HSA:5698] [KO:K02741] (PRAAS4) PSMG2 [HSA:56984] [KO:K11876] (PRAAS5) PSMB10 [HSA:5699] [KO:K02733] |
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| H02715 | Neurodevelopmental disorder with defects of ubiquitin-proteasome system | The ubiquitin-proteasome system (UPS) is the major proteolytic system that controls protein degradation and it regulates many cellular processes, such as cell division, gene expression and signal transduction ... | Congenital malformation |
(NEDSG) UFC1 [HSA:51506] [KO:K12165] (NDHSAL) HECW2 [HSA:57520] [KO:K12168] (NEDAUS) CUL3 [HSA:8452] [KO:K03869] (NEDAMSS) IRF2BPL [HSA:64207] [KO:K22383] (NEDHMS) UBE4A [HSA:9354] [KO:K10596] (NEDSMB) UBE3C [HSA:9690] [KO:K10589] (NEDSSCC) HECTD4 [HSA:283450] [KO:K17849] (NEDMHAL) PSMB1 [HSA:5689] [KO:K02732] (STISS) PSMD12 [HSA:5718] [KO:K03035] (BKAH) PSMC1 [HSA:5700] [KO:K03062] (CAFDADD) TRAF7 [HSA:84231] [KO:K10646] |
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