Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854594
rs137854594
CYBB
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
CYBB
0.800 GeneticVariation UNIPROT Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 23910690

2013
dbSNP: rs137854594
rs137854594
CYBB
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
CYBB
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
CYBB
0.800 GeneticVariation 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
dbSNP: rs137854594
rs137854594
CYBB
0.800 GeneticVariation 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
dbSNP: rs137854594
rs137854594
CYBB
0.800 GeneticVariation UNIPROT Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene). 11462241

2001
dbSNP: rs137854594
rs137854594
CYBB
0.800 GeneticVariation UNIPROT Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency. 10914676

2000
dbSNP: rs137854594
rs137854594
CYBB
0.800 GeneticVariation UNIPROT Uncommon missense and splice mutations and resulting biochemical phenotypes in German patients with X-linked chronic granulomatous disease. 10089913

1999
dbSNP: rs137854594
rs137854594
CYBB
0.800 GeneticVariation UNIPROT Molecular analysis of chronic granulomatous disease caused by defects in gp91-phox. 9888386

1999
dbSNP: rs137854594
rs137854594
CYBB
0.800 GeneticVariation UNIPROT Nicotinamide-adenine dinucleotide phosphate oxidase assembly and activation in EBV-transformed B lymphoblastoid cell lines of normal and chronic granulomatous disease patients. 9794433

1998
dbSNP: rs137854594
rs137854594
CYBB
0.800 GeneticVariation UNIPROT Genetic analysis of 13 families with X-linked chronic granulomatous disease reveals a low proportion of sporadic patients and a high proportion of sporadic carriers. 9667376

1998
dbSNP: rs137854594
rs137854594
CYBB
0.800 GeneticVariation UNIPROT X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase. 9585602

1998
dbSNP: rs137854594
rs137854594
CYBB
0.800 GeneticVariation UNIPROT An in-frame triplet deletion within the gp91-phox gene in an adult X-linked chronic granulomatous disease patient with residual NADPH-oxidase activity. 9111587

1997
dbSNP: rs137854594
rs137854594
CYBB
0.800 GeneticVariation UNIPROT Identification of mutations in seven Chinese patients with X-linked chronic granulomatous disease. 8916969

1996
dbSNP: rs137854594
rs137854594
CYBB
0.800 GeneticVariation 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
dbSNP: rs137854594
rs137854594
CYBB
0.800 GeneticVariation 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
dbSNP: rs137854594
rs137854594
CYBB
0.800 GeneticVariation 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
dbSNP: rs137854594
rs137854594
CYBB
0.800 GeneticVariation UNIPROT Point mutations in the beta-subunit of cytochrome b558 leading to X-linked chronic granulomatous disease. 1710153

1991
dbSNP: rs137854594
rs137854594
CYBB
0.800 GeneticVariation UNIPROT A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease. 2556453

1989
dbSNP: rs137854594
rs137854594
CYBB
T 0.800 CausalMutation CLINVAR