KLHL3, kelch like family member 3, 26249

N. diseases: 20; N. variants: 39
Disease: Pseudohypoaldosteronism, Type I, Autosomal Recessive ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1449843
Disease: Pseudohypoaldosteronism, Type I, Autosomal Recessive
Pseudohypoaldosteronism, Type I, Autosomal Recessive 		0.300 Biomarker disease CTD_human KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron. 22406640 2012