SLC12A3, solute carrier family 12 member 3, 6559

N. diseases: 252; N. variants: 131
Disease: Hypokalemic alkalosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085570
Disease: Hypokalemic alkalosis
Hypokalemic alkalosis 		0.120 GeneticVariation disease BEFREE Gitelman syndrome (GS) is a tubulopathy caused by SLC12A3 gene mutations, which lead to hypokalaemic alkalosis, secondary hyperaldosteronism, hypomagnesaemia and hypocalciuria. 21753071 2011
CUI: C0085570
Disease: Hypokalemic alkalosis
Hypokalemic alkalosis 		0.120 GeneticVariation disease BEFREE Gitelman's syndrome, caused by loss of function mutations in the Na-Cl cotransporter of the distal convoluted tubule (NCCT), features inherited hypokalemic alkalosis with so-called "normal" blood pressure. 11408395 2001
CUI: C0085570
Disease: Hypokalemic alkalosis
Hypokalemic alkalosis 		0.120 Biomarker disease HPO