CYBB, cytochrome b-245 beta chain, 1536

N. diseases: 343; N. variants: 75
Disease: Granulomatous Disease, Chronic, X-Linked ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.800 Biomarker disease BEFREE X-linked chronic granulomatous disease CGD can thus be separated into two types. 1007158 1976
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.800 GeneticVariation disease BEFREE In a patient suffering from X-linked chronic granulomatous disease (X-CGD)--a disorder of phagocytesuperoxide generation--and McLeod syndrome, characterized by the absence of the red cell Kell antigen, we identified a deletion of the entire X-CGD gene by means of DNA hybridization with a cDNA probe. 3334897 1988
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.800 GeneticVariation disease UNIPROT A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease. 2556453 1989
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.800 CausalMutation disease CLINVAR In X-linked chronic granulomatous disease (Xb- CGD) the phagocytes are defective in the beta-subunit (gp91-phox) of this cytochrome. 1710153 1991
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.800 Biomarker disease BEFREE In X-linked chronic granulomatous disease (Xb- CGD) the phagocytes are defective in the beta-subunit (gp91-phox) of this cytochrome. 1710153 1991
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.800 GeneticVariation disease UNIPROT In X-linked chronic granulomatous disease (Xb- CGD) the phagocytes are defective in the beta-subunit (gp91-phox) of this cytochrome. 1710153 1991
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.800 Biomarker disease BEFREE The polymorphonuclear (PMN) cells from a patient with cytochrome b positive X-linked chronic granulomatous disease (Xb+ CGD) were studied using flow cytometry. 1323464 1992
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.800 CausalMutation disease CLINVAR Studying X inactivation. 1347621 1992
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.800 GeneticVariation disease BEFREE A 40-base-pair duplication in the gp91-phox gene leading to X-linked chronic granulomatous disease. 7694872 1993
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.800 Biomarker disease BEFREE Therefore, we reassessed the possible use of this cell type for prenatal diagnosis of CGD patients comparing normal and CGD peripheral blood neutrophils (PMN) and skin fibroblasts in their reactive oxygen intermediate (ROI)-producing capacity. 8243611 1993
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.800 GeneticVariation disease UNIPROT A newly recognized point mutation in the cytochrome b558 heavy chain gene replacing alanine57 by glutamic acid, in a patient with cytochrome b positive X-linked chronic granulomatous disease. 8101486 1993
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.800 AlteredExpression disease BEFREE These results show the feasibility of phenotypic correction of CGD using gene replacement therapy and suggest that even modest levels of gp91phox expression may lead to considerable functional correction of X-CGD neutrophils. 7949086 1994
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.800 Biomarker disease BEFREE This 84-kD protein was further confirmed in neutrophils of 14 patients with gp91phox-deficient X-linked chronic granulomatous disease. 8270871 1994
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.800 AlteredExpression disease BEFREE Thus, these promoter region mutations appear to be causally related to the loss of association of a DNA-binding protein and lead to diminished gp91-phox expression, abnormal transcription initiation, and the development of CGD. 8083361 1994
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.800 GeneticVariation disease UNIPROT A point mutation in gp91-phox of cytochrome b558 of the human NADPH oxidase leading to defective translocation of the cytosolic proteins p47-phox and p67-phox. 8182143 1994
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.800 GeneticVariation disease UNIPROT Two novel point mutations in the cytochrome b 558 heavy chain gene, detected in two Japanese patients with X-linked chronic granulomatous disease. 7927345 1994
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.800 Biomarker disease BEFREE Defects in gp91-phox, the large subunit of cytochrome b558 (b-245) give rise to X-linked chronic granulomatous disease (CGD), a rare inherited condition characterized by an extreme susceptibility to bacterial and fungal infection. 7579466 1995
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.800 GeneticVariation disease BEFREE A new mutation in exon 12 of the gp91-phox gene leading to cytochrome b-positive X-linked chronic granulomatous disease. 7756659 1995
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.800 GeneticVariation disease BEFREE X-linked chronic granulomatous disease (CGD) is due to mutations in the gp91phox gene on Xp21.1. 8916969 1996
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.800 AlteredExpression disease BEFREE High-level reconstitution of respiratory burst activity in a human X-linked chronic granulomatous disease (X-CGD) cell line and correction of murine X-CGD bone marrow cells by retroviral-mediated gene transfer of human gp91phox. 8781441 1996
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.800 GeneticVariation disease BEFREE The human gene encoding the glycosylated gp91phox subunit is the site of mutations in X-linked chronic granulomatous disease (CGD). 8634451 1996
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.800 CausalMutation disease CLINVAR Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease. 8634410 1996
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.800 GeneticVariation disease UNIPROT X-linked chronic granulomatous disease (CGD) is due to mutations in the gp91phox gene on Xp21.1. 8916969 1996