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: rs137854508
rs137854508
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C1856245
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		A 0.800 GeneticVariation CLINVAR Two CGD Families with a Hypomorphic Mutation in the Activation Domain of p67phox. 25937994 2014
dbSNP: rs137854508
rs137854508
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C1856245
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		0.800 GeneticVariation UNIPROT Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 23910690 2013
dbSNP: rs137854508
rs137854508
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C1856245
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		0.800 GeneticVariation UNIPROT Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update). 20167518 2010
dbSNP: rs137854508
rs137854508
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C1856245
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		A 0.800 GeneticVariation CLINVAR Four different NCF2 mutations in six families from Turkey and an overview of NCF2 gene mutations. 19624736 2009
dbSNP: rs137854508
rs137854508
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C1856245
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		0.800 GeneticVariation UNIPROT Four different NCF2 mutations in six families from Turkey and an overview of NCF2 gene mutations. 19624736 2009
dbSNP: rs137854508
rs137854508
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C1856245
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		0.800 GeneticVariation UNIPROT Focus on FOCIS: the continuing diagnostic challenge of autosomal recessive chronic granulomatous disease. 18625437 2008
dbSNP: rs137854508
rs137854508
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C1856245
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		0.800 GeneticVariation UNIPROT Genetic and mutational heterogeneity of autosomal recessive chronic granulomatous disease in Tunisia. 16937026 2006
dbSNP: rs137854508
rs137854508
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C1856245
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		0.800 GeneticVariation UNIPROT Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (first update). 11112388 2000
dbSNP: rs137854508
rs137854508
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C1856245
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		0.800 GeneticVariation 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
dbSNP: rs137854508
rs137854508
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C1856245
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		0.800 GeneticVariation 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
dbSNP: rs137854508
rs137854508
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C1856245
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		0.800 GeneticVariation UNIPROT Identification of a double mutation (D160V-K161E) in the p67phox gene of a chronic granulomatous disease patient. 9070911 1997
dbSNP: rs137854508
rs137854508
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C1856245
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		0.800 GeneticVariation 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
dbSNP: rs17849502
rs17849502
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		T 0.720 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: C0024141
Disease:
Lupus Erythematosus, Systemic 		T 0.720 GeneticVariation GWASCAT Transancestral mapping and genetic load in systemic lupus erythematosus. 28714469 2017
dbSNP: rs17849502
rs17849502
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.720 GeneticVariation BEFREE In a case-control association study with 3716 North Americans of Hispanic descent and 4867 North Americans of European descent, we show that the associations of rs17849502 (NCF2 His-389 → Gln) and rs13306575 (NCF2 Arg-395 → Trp) with systemic lupus erythematosus are independent. 25795782 2015
dbSNP: rs17849502
rs17849502
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.720 GeneticVariation BEFREE The association between NCF2 and SLE can be attributed to a single nonsynonymous coding mutation in exon 12, the effect of which is the substitution of histidine-389 with glutamine (H389Q) in the PB1 domain of the NCF2 protein, with glutamine being the risk allele. 22203994 2012
dbSNP: rs13306575
rs13306575
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		A 0.710 GeneticVariation GWASCAT Genome-Wide Association Study in an Amerindian Ancestry Population Reveals Novel Systemic Lupus Erythematosus Risk Loci and the Role of European Admixture. 26606652 2016
dbSNP: rs13306575
rs13306575
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.710 GeneticVariation BEFREE In a case-control association study with 3716 North Americans of Hispanic descent and 4867 North Americans of European descent, we show that the associations of rs17849502 (NCF2 His-389 → Gln) and rs13306575 (NCF2 Arg-395 → Trp) with systemic lupus erythematosus are independent. 25795782 2015
dbSNP: rs10911363
rs10911363
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.710 GeneticVariation BEFREE The association of SNP rs10911363 with the diagnostic criteria of SLE was also examined. 20842512 2011
dbSNP: rs10911363
rs10911363
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		T 0.710 GeneticVariation GWASCAT A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. 19838195 2009
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