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: rs796065030
rs796065030
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C1856245
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		TTC 0.700 CausalMutation CLINVAR
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: 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: rs119103275
rs119103275
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C1856245
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		T 0.700 CausalMutation CLINVAR
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: 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: rs777621636
rs777621636
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C1856245
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		T 0.700 CausalMutation CLINVAR
dbSNP: rs796065032
rs796065032
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C1856245
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1558092897
rs1558092897
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C1856245
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		G 0.700 GeneticVariation CLINVAR Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update). 20167518 2010
dbSNP: rs1558092897
rs1558092897
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C1856245
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		G 0.700 GeneticVariation 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
dbSNP: rs1558098982
rs1558098982
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C1856245
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		C 0.700 CausalMutation CLINVAR
dbSNP: rs796065031
rs796065031
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C1856245
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		C 0.700 CausalMutation CLINVAR
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 		A 0.800 GeneticVariation CLINVAR Four different NCF2 mutations in six families from Turkey and an overview of NCF2 gene mutations. 19624736 2009
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: rs119103274
rs119103274
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C1856245
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		A 0.700 CausalMutation CLINVAR
dbSNP: rs119103276
rs119103276
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C1856245
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1290169467
rs1290169467
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C1856245
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		A 0.700 CausalMutation CLINVAR
dbSNP: rs374402066
rs374402066
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C1856245
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		A 0.700 CausalMutation CLINVAR
dbSNP: rs796065033
rs796065033
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C1856245
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		A 0.700 CausalMutation CLINVAR
dbSNP: rs796065033
rs796065033
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C1856245
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		A 0.700 GeneticVariation 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
dbSNP: rs796065033
rs796065033
Entrez Id: 4688;9887
Gene Symbol: NCF2;SMG7
NCF2;SMG7
CUI: C1856245
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		A 0.700 GeneticVariation CLINVAR Focus on FOCIS: the continuing diagnostic challenge of autosomal recessive chronic granulomatous disease. 18625437 2008