Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0033805
Disease: Pseudohypoaldosteronism
Pseudohypoaldosteronism
0.020 GeneticVariation disease BEFREE Pseudohypoaldosteronism (PHA) is characterized by urinary salt-wasting in infancy resulting from a congenital resistance to aldosterone involving the genes for the mineralocorticoid receptor (MR) and the amiloride-sensitive sodium channel (ENaC). 12483305 2003
CUI: C0033805
Disease: Pseudohypoaldosteronism
Pseudohypoaldosteronism
0.020 GeneticVariation disease BEFREE Polymorphisms of amiloride-sensitive sodium channel subunits in five sporadic cases of pseudohypoaldosteronism: do they have pathologic potential? 10404817 1999