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 		0.020 GeneticVariation disease BEFREE In this study we identified two frameshift mutations in the SCNN1B alleles of a female infant diagnosed with multi-system PHA inherited from her parents. 20064610 2010
CUI: C0030779
Disease: Pelger-Huet Anomaly
Pelger-Huet Anomaly 		0.020 GeneticVariation disease BEFREE The homozygous mutations identified in the alpha and beta ENaC genes should result in reduced or abolished ENaC activity in PHA patients, explaining the disease symptoms. 12107247 2002