Disease: Pelger-Huet Anomaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030779
Disease: Pelger-Huet Anomaly
Pelger-Huet Anomaly 		0.030 Biomarker disease BEFREE PHA type 1 (PHA1) can be divided into two different forms, showing either a systemic or a renal form of mineralocorticoid resistance. 23392097 2013
CUI: C0030779
Disease: Pelger-Huet Anomaly
Pelger-Huet Anomaly 		0.030 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: C0030779
Disease: Pelger-Huet Anomaly
Pelger-Huet Anomaly 		0.030 GeneticVariation disease BEFREE PHA type 1 (PHA1) causes neonatal salt loss, failure to thrive, dehydration and circulatory shock. 19571553 2009