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Entry | Name | Description | Category | Pathway | Gene |
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H00808 | Idiopathic generalized epilepsies | Idiopathic generalized epilepsies (EIG) are the most common types of epilepsy in childhood and adolescence. Based on the main seizure type and age at onset, four classic subsyndromes exist: childhood absence ... | Nervous system disease |
(EIG6) CACNA1H [HSA:8912] [KO:K04855] (EIG8) CASR [HSA:846] [KO:K04612] (EIG9) CACNB4 [HSA:785] [KO:K04865] (EIG10) GABRD [HSA:2563] [KO:K05184] (EIG11) CLCN2 [HSA:1181] [KO:K05011] (EIG12) SLC2A1 [HSA:6513] [KO:K07299] (EIG13) GABRA1 [HSA:2554] [KO:K05175] (EIG14) SLC12A5 [HSA:57468] [KO:K23967] (EIG15) RORB [HSA:6096] [KO:K08533] (EIG16) KCNMA1 [HSA:3778] [KO:K04936] (EIG18) HCN4 [HSA:10021] [KO:K04957] |
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H01603 | Primary aldosteronism | Primary aldosteronism is a clinical syndrome characterized by excess secretion of aldosterone from the adrenal gland. It is manifested by hypertension and hyporeninemia. In the past, hypokalemia was thought ... | Endocrine and metabolic disease |
(HALD1) CYP11B1 [HSA:1584] [KO:K00497] (HALD3) KCNJ5 [HSA:3762] [KO:K04999] (HALD4) CACNA1H [HSA:8912] [KO:K04855] (PASNA) CACNA1D [HSA:776] [KO:K04851] ATP1A1 [HSA:476] [KO:K01539] ATP2B3 [HSA:492] [KO:K05850] |
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H02215 | Childhood absence epilepsy | Childhood absence epilepsy (CAE/ECA) is a common idiopathic generalized epilepsy, accounts for 10% to 12% of epilepsy in children under 16 years of age. This condition begins in childhood with absences ... | Nervous system disease |
(ECA2) GABRG2 [HSA:2566] [KO:K05186] (ECA4) GABRA1 [HSA:2554] [KO:K05175] (ECA5) GABRB3 [HSA:2562] [KO:K05181] (ECA6) CACNA1H [HSA:8912] [KO:K04855] |
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