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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00243 | Hyperkalemic distal renal tubular acidosis (RTA type 4) | Renal tubular acidosis (RTA) is characterized by metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to renal impaired acid excretion. Type 4 RTA is a heterogeneous group of disorders ... | Urinary system disease |
(PHA1A) NR3C2 [HSA:4306] [KO:K08555] (PHA1B1) SCNN1A [HSA:6337] [KO:K04824] (PHA1B2) SCNN1B [HSA:6338] [KO:K04825] (PHA1B3) SCNN1G [HSA:6340] [KO:K04827] (PHA2B) WNK4 [HSA:65266] [KO:K08867] (PHA2C) WNK1 [HSA:65125] [KO:K08867] (PHA2D) KLHL3 [HSA:26249] [KO:K10443] (PHA2E) CUL3 [HSA:8452] [KO:K03869] |
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| H02289 | Retinal dystrophy with or without extraocular anomalies | ... with retinitis pigmentosa (RP), goiter, primary ovarian insufficiency, and mild intellectual disability. RCBTB1 was shown to be involved in ubiquitination, more specifically as a CUL3 substrate adaptor. | Nervous system disease | RCBTB1 [HSA:55213] [KO:K11494] | |
| H02310 | Renal tubular acidosis | Renal tubular acidosis (RTA) is characterized by metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to renal impaired acid excretion. RTA can be subcategorized into different ... | Urinary system disease |
(type 1) SLC4A1 [HSA:6521] [KO:K06573] (type 1) ATP6V1B1 [HSA:525] [KO:K02147] (type 1) ATP6V0A4 [HSA:50617] [KO:K02154] (type 2) SLC4A4 [HSA:8671] [KO:K13575] (type 3) CA2 [HSA:760] [KO:K18245] (type 4) SCNN1A [HSA:6337] [KO:K04824] (type 4) SCNN1B [HSA:6338] [KO:K04825] (type 4) SCNN1G [HSA:6340] [KO:K04827] (type 4) NR3C2 [HSA:4306] [KO:K08555] (type 4) WNK1 [HSA:65125] [KO:K08867] (type 4) WNK4 [HSA:65266] [KO:K08867] (type 4) KLHL3 [HSA:26249] [KO:K10443] (type 4) CUL3 [HSA:8452] [KO:K03869] |
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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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