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Entry | Name | Description | Category | Pathway | Gene |
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H00720 | Long QT syndrome | Long QT syndrome (LQTS) is a cardiovascular disorder resulting from mutations in cardiac ion channels. LQTS is characterized by prolongation of the QT interval in the electrocardiogram (ECG) and a propensity ... | Cardiovascular disease |
(LQT1) KCNQ1 [HSA:3784] [KO:K04926] (LQT2) KCNH2 [HSA:3757] [KO:K04905] (LQT3) SCN5A [HSA:6331] [KO:K04838] (LQT4) ANK2 [HSA:287] [KO:K09255] (LQT5) KCNE1 [HSA:3753] [KO:K04894] (LQT6) KCNE2 [HSA:9992] [KO:K04896] (LQT7) KCNJ2 [HSA:3759] [KO:K04996] (LQT8) CACNA1C [HSA:775] [KO:K04850] (LQT9) CAV3 [HSA:859] [KO:K12959] (LQT10) SCN4B [HSA:6330] [KO:K04848] (LQT11) AKAP9 [HSA:10142] [KO:K16551] (LQT12) SNTA1 [HSA:6640] [KO:K24063] (LQT13) KCNJ5 [HSA:3762] [KO:K04999] (LQT14) CALM1 [HSA:801] [KO:K02183] (LQT15) CALM2 [HSA:805] [KO:K02183] (LQT16) CALM3 [HSA:808] [KO:K02183] |
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H01603 | Primary aldosteronism | ... adenoma, and familial hyperaldosteronism (type I and typeII) are unusual subtypes. Somatic mutations in KCNJ5, ATP1A1, ATP2B3, and CACNA1D have been described in APAs. Usually, adenomas are managed surgically ... | 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] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |