NCF1, neutrophil cytosolic factor 1, 653361

N. diseases: 170; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
0.700 GeneticVariation disease UNIPROT Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 23910690 2013
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
0.700 GeneticVariation disease UNIPROT Autosomal recessive chronic granulomatous disease caused by defects in NCF-1, the gene encoding the phagocyte p47-phox: mutations not arising in the NCF-1 pseudogenes. 11133775 2001
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
0.700 Biomarker disease GENOMICS_ENGLAND Autosomal recessive chronic granulomatous disease caused by defects in NCF-1, the gene encoding the phagocyte p47-phox: mutations not arising in the NCF-1 pseudogenes. 11133775 2001
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
0.700 Biomarker disease GENOMICS_ENGLAND Recombination events between the p47-phox gene and its highly homologous pseudogenes are the main cause of autosomal recessive chronic granulomatous disease. 10706888 2000
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
0.700 Biomarker disease CTD_human
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
0.700 CausalMutation disease CLINVAR
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease
0.400 GeneticVariation group BEFREE In this study, we aimed to correct p47phox-deficiency, which is the second most common cause of chronic granulomatous disease, by insertion of a therapeutic p47phox transgene into the AAVS1 locus of human induced PSC (iPSC) using CRISPR-Cas9. 31773990 2020
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease
0.400 Biomarker group BEFREE In a CGD phenotypic mouse strain (Ncf1** mice) build-up of SNECs in Ly6C<sup>HI</sup> blood monocytes was connected with a delayed degradation of the phagosomal cargo and accompanied by production of inflammatory mediators. 31349119 2019
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease
0.400 GeneticVariation group BEFREE CGD is a genetically heterogeneous disease with an X-linked recessive (XR-CGD) form caused by mutations in the CYBB (OMIM #300481) gene encoding the gp91(phox) protein, and an autosomal recessive (AR-CGD) form caused by mutations in the CYBA (OMIM #608508), NCF1 (OMIM #608512), NCF2 (OMIM #608515) and NCF4 (OMIM #601488) genes encoding p22(phox), p47(phox), p67(phox) and p40(phox), respectively. 30506560 2019
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease
0.400 GeneticVariation group BEFREE Genetically confirmed individuals included 1 patient with XL-CGD (a large deletion involving the CYBB and XK genes resulting in a McLeod phenotype), 27 patients with AR-CGD with a c.579G>A (p.Trp193X) mutation at the NCF1 gene, and 4 patients with AR-CGD with a c.784G>A (p.Gly262Ser) mutation at the NCF1 gene. 29947158 2018
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease
0.400 GeneticVariation group BEFREE Analysis of Chronic Granulomatous Disease in the Kavkazi Population in Israel Reveals Phenotypic Heterogeneity in Patients with the Same NCF1 mutation (c.579G>A). 29411231 2018
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease
0.400 GeneticVariation group BEFREE We report a 16-year-old patient with CGD caused by homozygous deletion of NCF1 who atypically presented with ILD. 28224353 2017
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease
0.400 GeneticVariation group BEFREE For human p47<sup>phox</sup>-deficient chronic granulomatous disease (CGD) vector testing we generated a cellular model using clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9 to introduce a GT-dinucleotide deletion (ΔGT) mutation in p47<sup>phox</sup> encoding NCF1 gene in the human acute myeloid leukemia PLB-985 cell line. 28287132 2017
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease
0.400 Biomarker group BEFREE CGD clinically presents with recurrent and life-threatening infections as well as granulomatous inflammatory responses. p47<sup>phox</sup> encoded by the NCF1 gene is the most common autosomal recessive form of CGD which is often clinically milder. 27699571 2016
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease
0.400 GeneticVariation group BEFREE Chronic granulomatous disease (CGD) is an inherited mutational defect in any of the NADPH oxidase complex, CYBB (gp91-phox), NCF1 (p47-phox), CYBA (p22-phox), NCF2 (p67-phox), or NCF4 (p40-phox) leading to inability of phagocytes to perform effective respiratory burst and thus diminished killing of bacteria and fungi. 27222152 2016
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease
0.400 GeneticVariation group BEFREE Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by mutations in the five structural genes (CYBB, CYBA, NCF1, NCF2, and NCF4) that typically results in a decrease in function or inability to generate a respiratory burst, leading to defective killing of pathogens, including fungi and intracellular bacteria. 27666509 2016
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease
0.400 Biomarker group BEFREE A founder effect for p47(phox)Trp193Ter chronic granulomatous disease in Kavkazi Jews. 26460255 2015
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease
0.400 GeneticVariation group BEFREE In response to TLR7/9 ligands, B-cell lines derived from patients with CGD with mutations in either the NADPH oxidase p40(phox) or p47(phox) subunits produced only low levels of reactive oxygen species. 26340429 2015
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease
0.400 GeneticVariation group BEFREE Mutations were detected in CYBB gene in 6 patients with XL-CGD and NCF-1 gene mutations were observed in 7 cases of AR- CGD. 24276928 2014
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease
0.400 Biomarker group BEFREE This difference was comparable in p47(phox)- and gp91(phox)-deficient subtypes of CGD and independent of risk factors in multivariate regression analysis. 25239440 2014
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease
0.400 GeneticVariation group BEFREE Sixteen patients from 14 unrelated families had X-linked CGD (66.7 %), four had mutations in the NCF1 gene (19 %), and three, from two unrelated families, had mutations in NCF2 (9.5 %) [Corrected]. 24081483 2013
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease
0.400 Biomarker group BEFREE Diabetes, renal and cardiovascular disease in p47 phox-/- chronic granulomatous disease. 23386289 2013
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease
0.400 Biomarker group BEFREE A mutation in one of the 4 genes encoding the components p22(phox), p47(phox), p67(phox), and p40(phox) of the leukocyte nicotinamide dinucleotide phosphate reduced (NADPH) oxidase leads to autosomal recessive (AR) CGD. 23910690 2013
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease
0.400 Biomarker group BEFREE We have now investigated in detail the breakpoints within or between these (pseudo) NCF1 genes in 43 families with p47(phox)-deficient CGD by means of multiplex ligase-dependent probe amplification (MLPA). 23688784 2013
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease
0.400 GeneticVariation group BEFREE Chronic granulomatous disease (CGD) is a rare genetic disease, which is caused by defects in the NADPH oxidase complex (gp91(phox), p22(phox), p40(phox), p47(phox), and p67(phox)) of phagocytes. 23826567 2013