CYBB, cytochrome b-245 beta chain, 1536

N. diseases: 28; N. variants: 73
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease 		0.900 Biomarker group CTD_human He had had repeated serious infections from early childhood and was diagnosed as CGD, gp91-phox deficiency. 11498749 2001
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease 		0.900 Biomarker group CTD_human Point mutations in the promoter region of the CYBB gene leading to mild chronic granulomatous disease. 11122248 2000
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease 		0.900 Biomarker group GENOMICS_ENGLAND
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.800 GeneticVariation disease UNIPROT A novel missense mutation in the NADPH binding domain of CYBB abolishes the NADPH oxidase activity in a male patient with increased susceptibility to infections. 27666509 2016
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.800 GeneticVariation disease UNIPROT Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 23910690 2013
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.800 GeneticVariation disease UNIPROT Identification and functional characterization of two novel mutations in the α-helical loop (residues 484-503) of CYBB/gp91(phox) resulting in the rare X91(+) variant of chronic granulomatous disease. 22125116 2012
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.800 GeneticVariation disease UNIPROT First report of clinical, functional, and molecular investigation of chronic granulomatous disease in nine Jordanian families. 18773283 2009
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.800 Biomarker disease GENOMICS_ENGLAND A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease. 17293536 2007
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.800 GeneticVariation disease UNIPROT Functional analysis of two-amino acid substitutions in gp91 phox in a patient with X-linked flavocytochrome b558-positive chronic granulomatous disease by means of transgenic PLB-985 cells. 15338276 2004
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.800 GeneticVariation disease UNIPROT Molecular and functional characterization of a new X-linked chronic granulomatous disease variant (X91+) case with a double missense mutation in the cytosolic gp91phox C-terminal tail. 11997083 2002
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.800 GeneticVariation disease UNIPROT CYBB mutation analysis in X-linked chronic granulomatous disease. 12139950 2002
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.800 Biomarker disease CTD_human Successful unrelated bone marrow transplantation for a patient with chronic granulomatous disease and associated resistant pneumonitis and Aspergillus osteomyelitis. 11498749 2001
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.800 GeneticVariation disease UNIPROT Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene). 11462241 2001
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.800 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
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.800 Biomarker disease CTD_human Point mutations in the promoter region of the CYBB gene leading to mild chronic granulomatous disease. 11122248 2000
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.800 GeneticVariation disease UNIPROT Uncommon missense and splice mutations and resulting biochemical phenotypes in German patients with X-linked chronic granulomatous disease. 10089913 1999
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.800 GeneticVariation disease UNIPROT Molecular analysis of chronic granulomatous disease caused by defects in gp91-phox. 9888386 1999
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.800 GeneticVariation disease UNIPROT 4) In PMA-stimulated B cells from an X91+ CGD patient in which p22phox was normally expressed and gp91phox was present but lacked five amino acids, translocation of p47phox to the membranes was unaffected, but p67phox and p40phox were poorly translocated, and the production of O2- was greatly reduced with respect to that by normal B cells. 9794433 1998
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.800 GeneticVariation disease UNIPROT A novel mutation at a probable heme-binding ligand in neutrophil cytochrome b558 in atypical X-linked chronic granulomatous disease. 9856476 1998
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.800 GeneticVariation disease UNIPROT X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase. 9585602 1998
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.800 GeneticVariation disease UNIPROT Although approximately 200 different mutations of the gp91-phox gene have been reported, no precise study of the proportion of sporadic cases in X-CGD, based on molecular genetic analysis, has been reported. 9667376 1998
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.800 GeneticVariation disease UNIPROT This is the first mutation described in a X-CGD patient with absence of a functional cytochrome b558-spectrum but with detectable gp91-phox protein and residual NADPH-oxidase activity. 9111587 1997
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
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