Disease: Pseudohypoaldosteronism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0033805
Disease: Pseudohypoaldosteronism
Pseudohypoaldosteronism 		0.430 GeneticVariation disease BEFREE One girl showed pseudohypoaldosteronism related to mutations of the SCNN1G gene encoding for the epithelial sodium channel. 27485500 2016
CUI: C0033805
Disease: Pseudohypoaldosteronism
Pseudohypoaldosteronism 		0.430 GeneticVariation disease BEFREE Mutations in the alpha-, beta- and gamma-ENaC subunit genes (SCNN1A, SCNN1B and SCNN1G) are associated with multi-system pseudohypoaldosteronism (PHA), and mutations in the PY motif of carboxy-terminal region of beta and gamma subunits are associated with Liddle syndrome of hereditary hypertension. 20064610 2010
CUI: C0033805
Disease: Pseudohypoaldosteronism
Pseudohypoaldosteronism 		0.430 GeneticVariation disease LHGDN Novel mutations responsible for autosomal recessive multisystem pseudohypoaldosteronism and sequence variants in epithelial sodium channel alpha-, beta-, and gamma-subunit genes. 12107247 2002
CUI: C0033805
Disease: Pseudohypoaldosteronism
Pseudohypoaldosteronism 		0.430 Biomarker disease CTD_human A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families. 8640238 1996
CUI: C0033805
Disease: Pseudohypoaldosteronism
Pseudohypoaldosteronism 		0.430 Biomarker disease HPO