KLHL2, kelch like family member 2, 11275

N. diseases: 18; N. variants: 1
Disease: Hyperkalemic Mineralocorticoid Resistance ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4288936
Disease: Hyperkalemic Mineralocorticoid Resistance
Hyperkalemic Mineralocorticoid Resistance 		0.010 GeneticVariation disease BEFREE Mutations in KLHL2 have not been reported in patients with PHAII, suggesting that KLHL2 plays a different physiological role than that played by KLHL3 in the kidney. 28414128 2017