SLC12A2, solute carrier family 12 member 2, 6558

N. diseases: 128; N. variants: 7
Disease: Bartter syndrome, type 3 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1846343
Disease: Bartter syndrome, type 3
Bartter syndrome, type 3 		0.010 Biomarker disease BEFREE Previously, three genes (SLC12A2, the sodium-potassium-chloride co-transporter; KCNJ1, the ROMK potassium ion channel; ClC-Kb, the basolateral chloride ion channel) had been identified as causing antenatal and 'classic' Bartter syndrome. 12920401 2003