Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0340970
Disease: Congenital neutropenia
Congenital neutropenia
0.020 Biomarker disease BEFREE The contents of the neutrophil-specific granule proteins cathelicidin antimicrobial peptide and neutrophil gelatinase-associated lipocalin were also analyzed in SCN. 19415009 2009
CUI: C0340970
Disease: Congenital neutropenia
Congenital neutropenia
0.020 AlteredExpression disease BEFREE The hormonal form of vitamin D3 [1,25(OH)2D3] induced the expression of pro-LL-37 in isolated neutrophil progenitors and in EBV-transformed B cells from patients with SCN, whereas all-trans retinoic acid only induced expression in transformed B cells. 18703682 2008