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: rs179363892
rs179363892
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
0.800 GeneticVariation 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
dbSNP: rs179363892
rs179363892
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
0.800 GeneticVariation UNIPROT Molecular analysis of 9 new families with chronic granulomatous disease caused by mutations in CYBA, the gene encoding p22(phox). 10910929 2000
dbSNP: rs179363892
rs179363892
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
0.800 GeneticVariation UNIPROT Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency. 10914676 2000
dbSNP: rs28941476
rs28941476
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
0.800 GeneticVariation 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
dbSNP: rs28941476
rs28941476
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
0.800 GeneticVariation UNIPROT Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency. 10914676 2000
dbSNP: rs28941476
rs28941476
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
T 0.800 CausalMutation CLINVAR Molecular analysis of 9 new families with chronic granulomatous disease caused by mutations in CYBA, the gene encoding p22(phox). 10910929 2000
dbSNP: rs28941476
rs28941476
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
0.800 GeneticVariation UNIPROT Molecular analysis of 9 new families with chronic granulomatous disease caused by mutations in CYBA, the gene encoding p22(phox). 10910929 2000
dbSNP: rs28941476
rs28941476
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
T 0.800 CausalMutation CLINVAR 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
dbSNP: rs104894510
rs104894510
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
0.800 GeneticVariation 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
dbSNP: rs104894510
rs104894510
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
0.800 GeneticVariation 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
dbSNP: rs104894513
rs104894513
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
0.800 GeneticVariation 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
dbSNP: rs104894513
rs104894513
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
0.800 GeneticVariation 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
dbSNP: rs104894514
rs104894514
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
0.800 GeneticVariation 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
dbSNP: rs104894514
rs104894514
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
0.800 GeneticVariation 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
dbSNP: rs104894515
rs104894515
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
0.800 GeneticVariation 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
dbSNP: rs104894515
rs104894515
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
0.800 GeneticVariation 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
dbSNP: rs179363892
rs179363892
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
0.800 GeneticVariation 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
dbSNP: rs179363892
rs179363892
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
0.800 GeneticVariation 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
dbSNP: rs28941476
rs28941476
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
0.800 GeneticVariation 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
dbSNP: rs28941476
rs28941476
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
0.800 GeneticVariation 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
dbSNP: rs104894510
rs104894510
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
0.800 GeneticVariation 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
dbSNP: rs104894513
rs104894513
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
0.800 GeneticVariation 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
dbSNP: rs104894514
rs104894514
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
0.800 GeneticVariation 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
dbSNP: rs104894515
rs104894515
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
0.800 GeneticVariation 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
dbSNP: rs179363892
rs179363892
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
0.800 GeneticVariation 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