Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Identification of Variants in Genes Associated with Single-gene Inflammatory Bowel Disease by Whole-exome Sequencing.
|
27537055 |
2016 |
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 |
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Six different CYBA mutations including three novel mutations in ten families from Turkey, resulting in autosomal recessive chronic granulomatous disease.
|
19292887 |
2009 |
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 |
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Molecular analysis of 9 new families with chronic granulomatous disease caused by mutations in CYBA, the gene encoding p22(phox).
|
10910929 |
2000 |
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 |
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
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 |
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 |
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
|
0.700 |
CausalMutation
|
disease |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|