NCF2, neutrophil cytosolic factor 2, 4688

N. diseases: 90; N. variants: 30
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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 Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update). 20167518 2010
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 Four different NCF2 mutations in six families from Turkey and an overview of NCF2 gene mutations. 19624736 2009
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 Focus on FOCIS: the continuing diagnostic challenge of autosomal recessive chronic granulomatous disease. 18625437 2008
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 Genetic and mutational heterogeneity of autosomal recessive chronic granulomatous disease in Tunisia. 16937026 2006
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 Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (first update). 11112388 2000
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 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: 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 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: 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 Identification of a double mutation (D160V-K161E) in the p67phox gene of a chronic granulomatous disease patient. 9070911 1997
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 Autosomal recessive chronic granulomatous disease with absence of the 67-kD cytosolic NADPH oxidase component: identification of mutation and detection of carriers. 8286749 1994