CYBA, cytochrome b-245 alpha chain, 1535

N. diseases: 177; N. variants: 23
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs16966671
rs16966671
Entrez Id: 1535;4597
Gene Symbol: CYBA;MVD
CYBA;MVD
CUI: C0003165
Disease:
Anthracosis
0.010 GeneticVariation BEFREE No statistically significant difference was demonstrated in either the allele or genotype frequencies of the other four examined SNPs (rs13306296, rs4673, rs9932581, and rs16966671) between the CWP group and dust-exposed control group (all p > .05). 30654669 2019
dbSNP: rs7195830
rs7195830
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C0003165
Disease:
Anthracosis
0.010 GeneticVariation BEFREE Using the additive and the dominant model, the CYBA SNP rs7195830 polymorphism also showed significant associations with CWP patients (p < .001, OR = 1.621; p = .003, OR = 1.711, respectively). 30654669 2019
dbSNP: rs4673
rs4673
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C0003850
Disease:
Arteriosclerosis
0.010 GeneticVariation BEFREE Polymorphisms of p22phox, an essential component of the NADPH oxidase system, are found to be associated with atherosclerosis, while a recent study found a significant association between the 214C>T polymorphism and the occurrence of ischemic cerebrovascular disease. 13130177 2003
dbSNP: rs4673
rs4673
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C0004096
Disease:
Asthma
0.010 GeneticVariation BEFREE We sought to elucidate the role of genetic variability in the gene encoding the p22(phox) subunit of the NADPH oxidase (CYBA, 16q24.3) in asthma susceptibility by means of an association study of haplotypes based on 3 common single nucleotide polymorphisms (SNPs), -930A/G, 242C/T (H72Y) and 640A/G. 18716406 2009
dbSNP: rs4673
rs4673
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C0004153
Disease:
Atherosclerosis
0.010 GeneticVariation BEFREE Polymorphisms of p22phox, an essential component of the NADPH oxidase system, are found to be associated with atherosclerosis, while a recent study found a significant association between the 214C>T polymorphism and the occurrence of ischemic cerebrovascular disease. 13130177 2003
dbSNP: rs3794624
rs3794624
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per allele in the joint analysis, including SNPs in CYBA (encoding a subunit of the NADPH oxidase: rs3794624), MT2A (metallothionein 2A: rs1580833), TXN (thioredoxin: rs2301241), and in TXN2 (thioredoxin 2: rs2267337, rs2281082, rs4821494). 21792883 2011
dbSNP: rs4673
rs4673
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C0596263
Disease:
Carcinogenesis
0.010 GeneticVariation BEFREE The roles of interleukin 8 (<i>IL8</i>) rs4073, nuclear factor kappa B (<i>NF</i>κ<i>B</i>) rs28362491, cytochrome b-245, alpha polypeptide (<i>CYBA</i>) rs4673, <i>NAD(P) H</i> dehydrogenase, quinone 1 (<i>NQO1</i>) rs1800566, nitric oxide synthase 2 and inducible (<i>NOS2</i>) rs2297518 polymorphisms in lung carcinogenesis were investigated. 28529598 2017
dbSNP: rs4673
rs4673
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE <i>NQO1</i> rs1800566 was significantly associated with lung cancer risk and smoking may influence the association between <i>CYBA</i> rs4673 and the risk of lung cancer. 28529598 2017
dbSNP: rs4673
rs4673
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1397307
Disease:
Cardiac fibrosis
0.010 GeneticVariation BEFREE In patients receiving anthracyclines, NADPH oxidase polymorphism rs4673 protected against focal myocardial necrosis (odds ratio [OR], 0.11; 95% confidence interval [CI], 0.20-0.63) whereas rs1883112 was strongly associated with cardiac fibrosis (OR, 5.11; 95% CI, 1.59-16.43), which was present in all homozygotes. 23576480 2013
dbSNP: rs4673
rs4673
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C0007820
Disease:
Cerebrovascular Disorders
0.010 GeneticVariation BEFREE Polymorphisms of p22phox, an essential component of the NADPH oxidase system, are found to be associated with atherosclerosis, while a recent study found a significant association between the 214C>T polymorphism and the occurrence of ischemic cerebrovascular disease. 13130177 2003
dbSNP: rs104894515
rs104894515
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C0018203
Disease:
Chronic granulomatous disease
0.710 GeneticVariation BEFREE Binding of the p47-phox SH3 domains to p22-phox was abolished by a mutation in one proline-rich sequence (Pro156-->Gln) noted in a distinct form of chronic granulomatous disease and was inhibited by a short proline-rich synthetic peptide corresponding to residues 149-162 of p22-phox. 7938008 1994
dbSNP: rs104894515
rs104894515
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C0018203
Disease:
Chronic granulomatous disease
T 0.710 CausalMutation CLINVAR Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update). 20167518 2010
dbSNP: rs1049254
rs1049254
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C0018203
Disease:
Chronic granulomatous disease
0.010 GeneticVariation BEFREE The three CYBA variants (rs4673, rs1049254 and rs1049255) are benign: new evidence from a patient with CGD. 29132304 2017
dbSNP: rs1049255
rs1049255
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C0018203
Disease:
Chronic granulomatous disease
0.010 GeneticVariation BEFREE The three CYBA variants (rs4673, rs1049254 and rs1049255) are benign: new evidence from a patient with CGD. 29132304 2017
dbSNP: rs4673
rs4673
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C0018203
Disease:
Chronic granulomatous disease
0.010 GeneticVariation BEFREE The three CYBA variants (rs4673, rs1049254 and rs1049255) are benign: new evidence from a patient with CGD. 29132304 2017
dbSNP: rs1049255
rs1049255
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C2316810
Disease:
Chronic kidney disease stage 5
0.010 GeneticVariation BEFREE Our results suggested that rs1049255 polymorphism of CYBA modified the risk of ESRD (p  =  0.019; OR  =  0.625; 95%CI  =  0.424-0.921). 26627442 2016
dbSNP: rs7195830
rs7195830
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1561643
Disease:
Chronic Kidney Diseases
0.010 GeneticVariation BEFREE The AA genotype of rs7195830 is independently associated with lower estimated glomerular filtration rate and is significantly associated with CKD. 24033955 2013
dbSNP: rs1567608853
rs1567608853
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease
C 0.700 CausalMutation CLINVAR
dbSNP: rs4673
rs4673
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C0009241
Disease:
Cognition Disorders
0.010 GeneticVariation BEFREE Similarly, 8-hydroxydeoxyguanine urine levels and NOX activity were lower among children without cognitive deficits and particularly among those with the rs4673 polymorphism. 21902598 2012
dbSNP: rs1049255
rs1049255
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C0010054
Disease:
Coronary Arteriosclerosis
0.010 GeneticVariation BEFREE Association analysis of rs1049255 and rs4673 transitions in p22phox gene with coronary artery disease: A case-control study and a computational analysis. 28474233 2017
dbSNP: rs4673
rs4673
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C0010054
Disease:
Coronary Arteriosclerosis
0.010 GeneticVariation BEFREE Association analysis of rs1049255 and rs4673 transitions in p22phox gene with coronary artery disease: A case-control study and a computational analysis. 28474233 2017
dbSNP: rs7195830
rs7195830
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C0010054
Disease:
Coronary Arteriosclerosis
0.010 GeneticVariation BEFREE The CYBA Gene (⁎)49A>G Polymorphism (rs7195830) Is Associated with Hypertension in Patients with Coronary Artery Disease. 27314008 2016
dbSNP: rs4673
rs4673
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1956346
Disease:
Coronary Artery Disease
0.030 GeneticVariation BEFREE Our data demonstrated that rs4673 transition may be involved in susceptibility to CAD and could be applied as a potential biomarker for this disease. 28474233 2017
dbSNP: rs4673
rs4673
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1956346
Disease:
Coronary Artery Disease
0.030 GeneticVariation BEFREE Multivariate logistic regression analysis with adjustment for age, body mass index, and the prevalence of smoking, hypertension, diabetes mellitus, and hyperuricemia revealed that three polymorphisms [994G --> T (Val279Phe) in the platelet-activating factor acetylhydrolase gene, 242C --> T (His72Tyr) in the NADH/NADPH oxidase p22 phox gene, and 1100C --> T in the apolipoprotein C-III gene] were significantly associated with CAD in men with hypercholesterolemia. 14709372 2004
dbSNP: rs4673
rs4673
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1956346
Disease:
Coronary Artery Disease
0.030 GeneticVariation BEFREE The C242T polymorphism of p22phox gene (rs4673) has been linked to the reduced coronary artery disease (CAD) risk, but results in the published literatures are controversial. 20100625 2010