NCF2, neutrophil cytosolic factor 2, 4688

N. diseases: 90; N. variants: 30
Disease: Autosomal Recessive Chronic Granulomatous Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3661525
Disease: Autosomal Recessive Chronic Granulomatous Disease
Autosomal Recessive Chronic Granulomatous Disease 		0.020 GeneticVariation disease BEFREE One of the rarest forms of autosomal recessive chronic granulomatous disease (AR-CGD) is attributable to mutations in the NCF2 gene, which encodes the polypeptide p67(phox), a key cytoplasmic protein in the phagocyte NADPH oxidase system. 19624736 2009
CUI: C3661525
Disease: Autosomal Recessive Chronic Granulomatous Disease
Autosomal Recessive Chronic Granulomatous Disease 		0.020 Biomarker disease BEFREE Molecular characterization of autosomal recessive chronic granulomatous disease caused by a defect of the nicotinamide adenine dinucleotide phosphate (reduced form) oxidase component p67-phox. 10498624 1999