CYBA, cytochrome b-245 alpha chain, 1535

N. diseases: 177; N. variants: 23
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1856255
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		0.700 GeneticVariation disease UNIPROT Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency. 10914676 2000
CUI: C1856255
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		0.700 GeneticVariation disease UNIPROT 156Pro-->Gln substitution in the light chain of cytochrome b558 of the human NADPH oxidase (p22-phox) leads to defective translocation of the cytosolic proteins p47-phox and p67-phox. 7964505 1994
CUI: C1856255
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		0.700 GeneticVariation disease UNIPROT Human neutrophil cytochrome b light chain (p22-phox). Gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease. 2243141 1990
CUI: C1856255
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		0.700 GeneticVariation disease UNIPROT Point mutation in the cytoplasmic domain of the neutrophil p22-phox cytochrome b subunit is associated with a nonfunctional NADPH oxidase and chronic granulomatous disease. 1763037 1991
CUI: C1856255
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		0.700 GeneticVariation disease UNIPROT Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 23910690 2013
CUI: C1856255
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		0.700 GeneticVariation disease UNIPROT Genetic studies of three Japanese patients with p22-phox-deficient chronic granulomatous disease: detection of a possible common mutant CYBA allele in Japan and a genotype-phenotype correlation in these patients. 10759707 2000
CUI: C1856255
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		0.700 GeneticVariation disease UNIPROT Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease. 18422995 2008
CUI: C1856255
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		0.700 GeneticVariation disease UNIPROT Cytochrome b558-negative, autosomal recessive chronic granulomatous disease: two new mutations in the cytochrome b558 light chain of the NADPH oxidase (p22-phox). 1415254 1992
CUI: C1856255
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		0.700 GeneticVariation disease UNIPROT Identification of allele-specific p22-phox mutations in a compound heterozygous patient with chronic granulomatous disease by mismatch PCR and restriction enzyme analysis. 8168815 1994
CUI: C1856255
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		0.700 GeneticVariation disease UNIPROT Molecular analysis of 9 new families with chronic granulomatous disease caused by mutations in CYBA, the gene encoding p22(phox). 10910929 2000
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.600 GeneticVariation group BEFREE The -930G allele of p22-phox has been associated with higher promoter activity, increased NAD(P)H oxidase-mediated oxidative stress and hypertension. 17314996 2007
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.600 GeneticVariation group BEFREE The A930G polymorphism ofP22phox (CYBA) gene but not C242T variation is associated with hypertension: a meta-analysis. 24349292 2013
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.600 GeneticVariation group BEFREE The C242T polymorphism was not in linkage disequilibrium with the -930A/G CYBA promoter variation, which also associates with hypertension. 16794479 2006
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.600 GeneticVariation group BEFREE Blood pressure or the prevalence of hypertension did not vary between C242T p22PHOX genotypes or in the presence or absence of the T-allele. 24573492 2014
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.600 GeneticVariation group BEFREE The -930A/G polymorphism of the CYBA gene (that codes p22phox, a major component of the NADPH oxidase) has been associated with human hypertension and with a reduction in NADPH oxidase activity. 19043982 2008
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.600 GeneticVariation group BEFREE Exercise training, NADPH oxidase p22phox gene polymorphisms, and hypertension. 19516159 2009
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.600 GeneticVariation group BEFREE The CYBA Gene (⁎)49A>G Polymorphism (rs7195830) Is Associated with Hypertension in Patients with Coronary Artery Disease. 27314008 2016
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.600 GeneticVariation group LHGDN Preliminary characterisation of the promoter of the human p22(phox) gene: identification of a new polymorphism associated with hypertension. 12729892 2003
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.600 GeneticVariation group BEFREE CYBA (p22(phox)) variants influence the markers of oxidative stress and are associated with hypertension. 25787042 2015
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.600 GeneticVariation group BEFREE Logistic analysis indicated that the CYBA/G(-930)A polymorphism was associated with hypertension in male subjects. 15671602 2005
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.600 GeneticVariation group BEFREE Reactive oxygen species are implicated in the physiopathogenesis of salt-induced hypertension and the C242T polymorphism of the p22-phox gene has been associated with higher superoxide production. 24339896 2013
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.600 GeneticVariation group BEFREE According to the results of cross-sectional study, the tested polymorphism of the NADPH oxidase P22phox gene (rs4673) was found to be associated with the development of AH, indicating that the oxidative stress gene NADPH oxidase might be implicated in the pathogenesis of AH in subjects with type 2 diabetes. 23701472 2014
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.600 GeneticVariation group BEFREE These data suggest that the T allele of the CYBA C242T polymorphism may be used as a marker for adverse metabolic features in Brazilian subjects with systemic hypertension. 22268370 2012
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.600 GeneticVariation group BEFREE Polymorphisms in the p22phox gene promoter could determine susceptibility to NAD(P)H-mediated oxidative stress in humans and animals with hypertension. 16026320 2005
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.600 GeneticVariation group LHGDN A novel CYBA variant, the -675A/T polymorphism, is associated with essential hypertension. 17620958 2007