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: rs137854587
rs137854587
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: rs137854589
rs137854589
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: rs137854590
rs137854590
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: rs137854591
rs137854591
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: rs137854593
rs137854593
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: rs137854594
rs137854594
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: rs137854595
rs137854595
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: rs137854596
rs137854596
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: rs151344454
rs151344454
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: rs151344454
rs151344454
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked
C 0.800 CausalMutation CLINVAR High-performance liquid chromatography under partially denaturing conditions (dHPLC) is a fast and cost-effective method for screening molecular defects: four novel mutations found in X-linked chronic granulomatous disease. 22540226 2012
dbSNP: rs151344497
rs151344497
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1970859
Disease:
Atypical Mycobacteriosis, Familial, X-Linked 2
0.800 GeneticVariation UNIPROT Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease. 21278736 2011
dbSNP: rs151344498
rs151344498
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1970859
Disease:
Atypical Mycobacteriosis, Familial, X-Linked 2
0.800 GeneticVariation UNIPROT Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease. 21278736 2011
dbSNP: rs151344454
rs151344454
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked
C 0.800 CausalMutation CLINVAR Regulation of NADPH oxidase activity in phagocytes: relationship between FAD/NADPH binding and oxidase complex assembly. 20724480 2010
dbSNP: rs151344454
rs151344454
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked
C 0.800 CausalMutation CLINVAR Hematologically important mutations: X-linked chronic granulomatous disease (third update). 20729109 2010
dbSNP: rs137854585
rs137854585
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked
0.800 GeneticVariation UNIPROT First report of clinical, functional, and molecular investigation of chronic granulomatous disease in nine Jordanian families. 18773283 2009
dbSNP: rs137854586
rs137854586
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked
0.800 GeneticVariation UNIPROT First report of clinical, functional, and molecular investigation of chronic granulomatous disease in nine Jordanian families. 18773283 2009
dbSNP: rs137854587
rs137854587
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked
0.800 GeneticVariation UNIPROT First report of clinical, functional, and molecular investigation of chronic granulomatous disease in nine Jordanian families. 18773283 2009
dbSNP: rs137854589
rs137854589
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked
0.800 GeneticVariation UNIPROT First report of clinical, functional, and molecular investigation of chronic granulomatous disease in nine Jordanian families. 18773283 2009
dbSNP: rs137854590
rs137854590
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked
0.800 GeneticVariation UNIPROT First report of clinical, functional, and molecular investigation of chronic granulomatous disease in nine Jordanian families. 18773283 2009
dbSNP: rs137854591
rs137854591
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked
0.800 GeneticVariation UNIPROT First report of clinical, functional, and molecular investigation of chronic granulomatous disease in nine Jordanian families. 18773283 2009
dbSNP: rs137854593
rs137854593
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked
0.800 GeneticVariation UNIPROT First report of clinical, functional, and molecular investigation of chronic granulomatous disease in nine Jordanian families. 18773283 2009
dbSNP: rs137854594
rs137854594
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked
0.800 GeneticVariation UNIPROT First report of clinical, functional, and molecular investigation of chronic granulomatous disease in nine Jordanian families. 18773283 2009
dbSNP: rs137854595
rs137854595
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked
0.800 GeneticVariation UNIPROT First report of clinical, functional, and molecular investigation of chronic granulomatous disease in nine Jordanian families. 18773283 2009
dbSNP: rs137854596
rs137854596
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked
0.800 GeneticVariation UNIPROT First report of clinical, functional, and molecular investigation of chronic granulomatous disease in nine Jordanian families. 18773283 2009
dbSNP: rs151344454
rs151344454
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked
0.800 GeneticVariation UNIPROT First report of clinical, functional, and molecular investigation of chronic granulomatous disease in nine Jordanian families. 18773283 2009