Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism
0.310 GeneticVariation disease BEFREE Here, we identified a novel somatic deletion mutation in ATP2B3, which results in the amino acid sequences increasing intracellular calcium concentrations as reported previously, leading to increased aldosterone synthase (CYP11B2) expression and following excess aldosterone production in the APA cells. 26481629 2015
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism
0.310 Biomarker disease CTD_human Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension. 23416519 2013