CLCN2, chloride voltage-gated channel 2, 1181

N. diseases: 67; N. variants: 30
Disease: Hyperaldosteronism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism 		0.320 GeneticVariation disease BEFREE In the adrenal, ClC-2 has been demonstrated to localize predominantly to the zona glomerulosa (ZG), and functional analysis suggests that mutations in ClC-2 predispose ZG cells to depolarization, thus leading to calcium influx via activation of voltage-gated calcium channels and increased aldosterone production. 30949771 2019
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism 		0.320 Biomarker disease BEFREE Pathogenesis of hypertension in a mouse model for human CLCN2 related hyperaldosteronism. 31615979 2019
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism 		0.320 Biomarker disease CTD_human A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism. 29403012 2018