rs796065033, SMG7;NCF2

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
CUI: C1856245
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
0.700 GeneticVariation CLINVAR Focus on FOCIS: the continuing diagnostic challenge of autosomal recessive chronic granulomatous disease. 18625437 2008
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
CUI: C1856245
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
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
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
CUI: C1856245
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
0.700 GeneticVariation 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
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
CUI: C1856245
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
0.700 CausalMutation CLINVAR