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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01603 | Primary aldosteronism | ... 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 and bilateral hyperplasia ... | 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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| H02636 | Sinoatrial node dysfunction and deafness | ... deafness (SANDD) is a genetic disease characterized by a low heart beat and severe-to-profound deafness. A mutation of CACNA1D, encoding the Cav1.3 protein, has been identified in families with SANDD. | Cardiovascular disease; Nervous system disease | CACNA1D [HSA:776] [KO:K04851] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |