WNK1, WNK lysine deficient protein kinase 1, 65125

N. diseases: 460; N. variants: 26
Disease: Pseudohypoaldosteronism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0033805
Disease: Pseudohypoaldosteronism
Pseudohypoaldosteronism 		0.410 Biomarker disease CTD_human Phosphatidylinositol 3-kinase/Akt signaling pathway activates the WNK-OSR1/SPAK-NCC phosphorylation cascade in hyperinsulinemic db/db mice. 22949526 2012
CUI: C0033805
Disease: Pseudohypoaldosteronism
Pseudohypoaldosteronism 		0.410 GeneticVariation disease BEFREE Soon after the WNKs were identified, mutations in genes encoding WNK1 and -4 were determined to cause the human disease familial hyperkalemic hypertension (also known as pseudohypoaldosteronism II, or Gordon's Syndrome). 21248166 2011
CUI: C0033805
Disease: Pseudohypoaldosteronism
Pseudohypoaldosteronism 		0.410 Biomarker disease HPO