Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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