NCF1, neutrophil cytosolic factor 1, 653361

N. diseases: 170; N. variants: 11
Disease: Ectodermal dysplasia, hypohidrotic, with immune deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1846006
Disease: Ectodermal dysplasia, hypohidrotic, with immune deficiency
Ectodermal dysplasia, hypohidrotic, with immune deficiency 		0.010 GeneticVariation disease BEFREE NCF1 gene expression in EDA-ID S32I cells was decreased compared with healthy control cells and similar to that in autosomal recessive (A47(0)) CGD cells. 18523147 2008