CYBB, cytochrome b-245 beta chain, 1536

N. diseases: 343; N. variants: 75
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs151344454
rs151344454
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked
C 0.800 CausalMutation CLINVAR Necrotizing Liver Granuloma/Abscess and Constrictive Aspergillosis Pericarditis with Central Nervous System Involvement: Different Remarkable Phenotypes in Different Chronic Granulomatous Disease Genotypes. 28168067 2017
dbSNP: rs137854585
rs137854585
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked
0.800 GeneticVariation 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
dbSNP: rs137854586
rs137854586
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked
0.800 GeneticVariation 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
dbSNP: rs137854587
rs137854587
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked
0.800 GeneticVariation 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
dbSNP: rs137854589
rs137854589
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked
0.800 GeneticVariation 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
dbSNP: rs137854590
rs137854590
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked
0.800 GeneticVariation 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
dbSNP: rs137854591
rs137854591
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked
0.800 GeneticVariation 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
dbSNP: rs137854593
rs137854593
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked
0.800 GeneticVariation 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
dbSNP: rs137854594
rs137854594
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked
0.800 GeneticVariation 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
dbSNP: rs137854595
rs137854595
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked
0.800 GeneticVariation 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
dbSNP: rs137854596
rs137854596
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked
0.800 GeneticVariation 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
dbSNP: rs151344454
rs151344454
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked
0.800 GeneticVariation 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
dbSNP: rs137854585
rs137854585
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked
0.800 GeneticVariation UNIPROT Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 23910690 2013
dbSNP: rs137854586
rs137854586
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked
0.800 GeneticVariation UNIPROT Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 23910690 2013
dbSNP: rs137854587
rs137854587
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked
0.800 GeneticVariation UNIPROT Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 23910690 2013
dbSNP: rs137854589
rs137854589
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked
0.800 GeneticVariation UNIPROT Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 23910690 2013
dbSNP: rs137854590
rs137854590
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked
0.800 GeneticVariation UNIPROT Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 23910690 2013
dbSNP: rs137854591
rs137854591
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked
0.800 GeneticVariation UNIPROT Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 23910690 2013
dbSNP: rs137854593
rs137854593
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked
0.800 GeneticVariation UNIPROT Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 23910690 2013
dbSNP: rs137854594
rs137854594
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked
0.800 GeneticVariation UNIPROT Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 23910690 2013
dbSNP: rs137854595
rs137854595
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked
0.800 GeneticVariation UNIPROT Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 23910690 2013
dbSNP: rs137854596
rs137854596
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked
0.800 GeneticVariation UNIPROT Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 23910690 2013
dbSNP: rs151344454
rs151344454
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked
0.800 GeneticVariation UNIPROT Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 23910690 2013
dbSNP: rs137854585
rs137854585
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked
0.800 GeneticVariation 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
dbSNP: rs137854586
rs137854586
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked
0.800 GeneticVariation 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