NCF2, neutrophil cytosolic factor 2, 4688

N. diseases: 90; N. variants: 30
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10911362
rs10911362
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C0041296
Disease:
Tuberculosis 		0.010 GeneticVariation BEFREE Our study demonstrated for the first time that the G allele of <i>NCF2</i> rs10911362 provided a protective role against TB risk in the Western Chinese Han population. 31794672 2020
dbSNP: rs10911363
rs10911363
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C0003864
Disease:
Arthritis 		0.010 GeneticVariation BEFREE Minor allele (G) of rs10911363 was found to significantly associate with the incidence of arthritis (p = 0.024, odds ratio (OR) = 1.35, and 95% confidence interval (CI) = 1.04-1.75) and increased abnormalities of antinuclear antibody (p = 0.002, OR = 1.51, and 95%CI = 1.17-1.95) and anti-DNA (p = 0.013, OR = 1.40, and 95%CI = 1.07-1.82). 20842512 2011
dbSNP: rs119103274
rs119103274
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C0018203
Disease:
Chronic granulomatous disease 		0.010 GeneticVariation BEFREE Surprisingly, the A128V CGD mutant is able to fully activate the NADPH oxidase in vitro at 25 degrees C. However, this point mutation represents a temperature-sensitive defect in p67(phox) that explains its phenotype at physiological temperature. 11262407 2001
dbSNP: rs137878529
rs137878529
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C0018203
Disease:
Chronic granulomatous disease 		0.010 GeneticVariation BEFREE Identification of a double mutation (D160V-K161E) in the p67phox gene of a chronic granulomatous disease patient. 9070911 1997
dbSNP: rs267606912
rs267606912
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C0018203
Disease:
Chronic granulomatous disease 		0.010 GeneticVariation BEFREE Identification of a double mutation (D160V-K161E) in the p67phox gene of a chronic granulomatous disease patient. 9070911 1997
dbSNP: rs17849502
rs17849502
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C0036421
Disease:
Systemic Scleroderma 		T 0.700 GeneticVariation GWASCAT Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. 30573655 2019
dbSNP: rs17849502
rs17849502
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C0003873
Disease:
Rheumatoid Arthritis 		T 0.700 GeneticVariation GWASCAT Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. 30573655 2019
dbSNP: rs17849502
rs17849502
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C0027121
Disease:
Myositis 		T 0.700 GeneticVariation GWASCAT Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. 30573655 2019
dbSNP: rs17849501
rs17849501
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.700 GeneticVariation GWASCAT Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus. 27399966 2016
dbSNP: rs17849502
rs17849502
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C0003873
Disease:
Rheumatoid Arthritis 		0.700 GeneticVariation GWASCAT Functional implications of disease-specific variants in loci jointly associated with coeliac disease and rheumatoid arthritis. 26546613 2016
dbSNP: rs17849502
rs17849502
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C0007570
Disease:
Celiac Disease 		0.700 GeneticVariation GWASCAT Functional implications of disease-specific variants in loci jointly associated with coeliac disease and rheumatoid arthritis. 26546613 2016
dbSNP: rs17849501
rs17849501
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		T 0.700 GeneticVariation GWASCAT Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus. 26502338 2015
dbSNP: rs137854507
rs137854507
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C1856245
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		0.700 GeneticVariation UNIPROT Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 23910690 2013
dbSNP: rs137854509
rs137854509
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C1856245
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		0.700 GeneticVariation UNIPROT Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 23910690 2013
dbSNP: rs137854510
rs137854510
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C1856245
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		0.700 GeneticVariation UNIPROT Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 23910690 2013
dbSNP: rs137854514
rs137854514
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C1856245
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		0.700 GeneticVariation UNIPROT Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 23910690 2013
dbSNP: rs137854515
rs137854515
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C1856245
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		0.700 GeneticVariation UNIPROT Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 23910690 2013
dbSNP: rs137854516
rs137854516
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C1856245
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		0.700 GeneticVariation UNIPROT Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 23910690 2013
dbSNP: rs137854517
rs137854517
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C1856245
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		0.700 GeneticVariation UNIPROT Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 23910690 2013
dbSNP: rs137854518
rs137854518
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C1856245
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		0.700 GeneticVariation UNIPROT Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 23910690 2013
dbSNP: rs137854519
rs137854519
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C1856245
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		0.700 GeneticVariation UNIPROT Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 23910690 2013
dbSNP: rs137854520
rs137854520
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C1856245
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		0.700 GeneticVariation UNIPROT Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 23910690 2013
dbSNP: rs137854507
rs137854507
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C1856245
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		0.700 GeneticVariation UNIPROT Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update). 20167518 2010
dbSNP: rs137854509
rs137854509
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C1856245
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		0.700 GeneticVariation UNIPROT Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update). 20167518 2010
dbSNP: rs137854510
rs137854510
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C1856245
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		0.700 GeneticVariation UNIPROT Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update). 20167518 2010