NCF2, neutrophil cytosolic factor 2, 4688

N. diseases: 90; N. variants: 30
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1856245
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		0.700 GeneticVariation disease CLINVAR Two CGD Families with a Hypomorphic Mutation in the Activation Domain of p67phox. 25937994 2014
CUI: C1856245
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		0.700 GeneticVariation disease UNIPROT Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 23910690 2013
CUI: C1856245
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		0.700 GeneticVariation disease UNIPROT Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update). 20167518 2010
CUI: C1856245
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		0.700 GeneticVariation disease CLINVAR Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update). 20167518 2010
CUI: C1856245
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		0.700 GeneticVariation disease UNIPROT Four different NCF2 mutations in six families from Turkey and an overview of NCF2 gene mutations. 19624736 2009
CUI: C1856245
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		0.700 GeneticVariation disease CLINVAR Four different NCF2 mutations in six families from Turkey and an overview of NCF2 gene mutations. 19624736 2009
CUI: C1856245
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		0.700 GeneticVariation disease CLINVAR Focus on FOCIS: the continuing diagnostic challenge of autosomal recessive chronic granulomatous disease. 18625437 2008
CUI: C1856245
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		0.700 GeneticVariation disease UNIPROT Focus on FOCIS: the continuing diagnostic challenge of autosomal recessive chronic granulomatous disease. 18625437 2008
CUI: C1856245
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		0.700 GeneticVariation disease UNIPROT Genetic and mutational heterogeneity of autosomal recessive chronic granulomatous disease in Tunisia. 16937026 2006
CUI: C1856245
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		0.700 GeneticVariation disease UNIPROT Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (first update). 11112388 2000
CUI: C1856245
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		0.700 GeneticVariation disease CLINVAR 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
CUI: C1856245
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		0.700 GeneticVariation disease UNIPROT 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
CUI: C1856245
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		0.700 GeneticVariation disease UNIPROT Autosomal recessive chronic granulomatous disease caused by novel mutations in NCF-2, the gene encoding the p67-phox component of phagocyte NADPH oxidase. 10598813 1999
CUI: C1856245
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		0.700 GeneticVariation disease CLINVAR Autosomal recessive chronic granulomatous disease caused by novel mutations in NCF-2, the gene encoding the p67-phox component of phagocyte NADPH oxidase. 10598813 1999
CUI: C1856245
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		0.700 Biomarker disease GENOMICS_ENGLAND 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
CUI: C1856245
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		0.700 GeneticVariation disease UNIPROT Identification of a double mutation (D160V-K161E) in the p67phox gene of a chronic granulomatous disease patient. 9070911 1997
CUI: C1856245
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		0.700 GeneticVariation disease UNIPROT Autosomal recessive chronic granulomatous disease with absence of the 67-kD cytosolic NADPH oxidase component: identification of mutation and detection of carriers. 8286749 1994
CUI: C1856245
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		0.700 Biomarker disease CTD_human
CUI: C1856245
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1856245
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		0.700 CausalMutation disease CLINVAR
CUI: C1856245
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.400 GeneticVariation disease GWASCAT Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. 30573655 2019
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.400 GeneticVariation disease GWASCAT Functional implications of disease-specific variants in loci jointly associated with coeliac disease and rheumatoid arthritis. 26546613 2016
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.400 Biomarker disease CTD_human From transcriptome to proteome: differentially expressed proteins identified in synovial tissue of patients suffering from rheumatoid arthritis and osteoarthritis by an initial screen with a panel of 791 antibodies. 12833524 2003
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.210 Biomarker group BEFREE Previous studies utilizing the SS<sup>p67phox-/-</sup> rat have demonstrated the importance of systemic NADPH oxidase NOX2-derived reactive oxygen species (ROS) production in the pathogenesis of Dahl Salt-Sensitive (SS) hypertension and renal damage. 31730933 2020