Disease: Pseudohypoaldosteronism, Type I ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268436
Disease: Pseudohypoaldosteronism, Type I
Pseudohypoaldosteronism, Type I 		0.520 GeneticVariation disease BEFREE We describe systemic PHA1 due to 4 novel variants detected in SCNN1A and SCNN1B in 3 cases from 3 unrelated consanguineous families. 31018202 2019
CUI: C0268436
Disease: Pseudohypoaldosteronism, Type I
Pseudohypoaldosteronism, Type I 		0.520 GeneticVariation disease BEFREE Pseudohypoaldosteronism type 1 (PHA1) is a monogenic disease caused by mutations in the genes encoding the human mineralocorticoid receptor (MR) or the α (SCNN1A), β (SCNN1B) or γ (SCNN1G) subunit of the epithelial Na(+) channel (ENaC). 23416952 2013
CUI: C0268436
Disease: Pseudohypoaldosteronism, Type I
Pseudohypoaldosteronism, Type I 		0.520 Biomarker disease MGD Disruption of the beta subunit of the epithelial Na+ channel in mice: hyperkalemia and neonatal death associated with a pseudohypoaldosteronism phenotype. 9990092 1999
CUI: C0268436
Disease: Pseudohypoaldosteronism, Type I
Pseudohypoaldosteronism, Type I 		0.520 Biomarker disease CTD_human