Disease: Specific granule deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0398593
Disease: Specific granule deficiency
Specific granule deficiency 		0.010 GeneticVariation disease BEFREE A patient with neutrophil-specific granule deficiency with a homozygous inactivating mutation in the CEBP epsilon gene showed severely impaired expression of both BPI messenger RNA (mRNA) and BPI protein. 17483073 2007