SLC12A1, solute carrier family 12 member 1, 6557

N. diseases: 87; N. variants: 29
Disease: PSEUDOHYPOALDOSTERONISM, TYPE IID ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3469605
Disease: PSEUDOHYPOALDOSTERONISM, TYPE IID
PSEUDOHYPOALDOSTERONISM, TYPE IID 		0.020 Biomarker disease BEFREE More supporting evidence that WNK4 may modulate NKCC2 emerges from a mouse model of WNK4-mediated familial hyperkalemic hypertension in which more phosphorylated NKCC2 is present than in controls. 29412704 2018
CUI: C3469605
Disease: PSEUDOHYPOALDOSTERONISM, TYPE IID
PSEUDOHYPOALDOSTERONISM, TYPE IID 		0.020 Biomarker disease BEFREE Abundance of phosphorylated Na+-K+-2Cl- cotransporter (NKCC2) was also increased, which may contribute to the severity of CUL3-Δ9-mediated FHHt. 29263298 2017