DisGeNET - a database of gene-disease associations

CYBB, cytochrome b-245 beta chain, 1536

N. diseases: 343; N. variants: 75

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs137854587

Entrez Id:	1536
Gene Symbol:	CYBB

CYBB

CUI:	C1844376
Disease:

Granulomatous Disease, Chronic, X-Linked

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:

rs137854587

Entrez Id:	1536
Gene Symbol:	CYBB

CYBB

CUI:	C1844376
Disease:

Granulomatous Disease, Chronic, X-Linked

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:

rs137854587

Entrez Id:	1536
Gene Symbol:	CYBB

CYBB

CUI:	C1844376
Disease:

Granulomatous Disease, Chronic, X-Linked

0.800

GeneticVariation

UNIPROT

Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene).

11462241

2001

dbSNP:

rs137854587

Entrez Id:	1536
Gene Symbol:	CYBB

CYBB

CUI:	C1844376
Disease:

Granulomatous Disease, Chronic, X-Linked

0.800

GeneticVariation

UNIPROT

Molecular analysis of chronic granulomatous disease caused by defects in gp91-phox.

9888386

1999

dbSNP:

rs137854587

Entrez Id:	1536
Gene Symbol:	CYBB

CYBB

CUI:	C1844376
Disease:

Granulomatous Disease, Chronic, X-Linked

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:

rs137854587

Entrez Id:	1536
Gene Symbol:	CYBB

CYBB

CUI:	C1844376
Disease:

Granulomatous Disease, Chronic, X-Linked

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:

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:

rs137854587

Entrez Id:	1536
Gene Symbol:	CYBB

CYBB

CUI:	C1844376
Disease:

Granulomatous Disease, Chronic, X-Linked

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:

rs137854587

Entrez Id:	1536
Gene Symbol:	CYBB

CYBB

CUI:	C1844376
Disease:

Granulomatous Disease, Chronic, X-Linked

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:

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:

rs137854587

Entrez Id:	1536
Gene Symbol:	CYBB

CYBB

CUI:	C1844376
Disease:

Granulomatous Disease, Chronic, X-Linked

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:

rs137854587

Entrez Id:	1536
Gene Symbol:	CYBB

CYBB

CUI:	C1844376
Disease:

Granulomatous Disease, Chronic, X-Linked

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:

rs137854587

Entrez Id:	1536
Gene Symbol:	CYBB

CYBB

CUI:	C1844376
Disease:

Granulomatous Disease, Chronic, X-Linked

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:

rs137854588

Entrez Id:	1536
Gene Symbol:	CYBB

CYBB

CUI:	C1844376
Disease:

Granulomatous Disease, Chronic, X-Linked

0.700

CausalMutation

CLINVAR

Point mutations in the beta-subunit of cytochrome b558 leading to X-linked chronic granulomatous disease.

1710153

1991

dbSNP:

rs137854588

Entrez Id:	1536
Gene Symbol:	CYBB

CYBB

CUI:	C1844376
Disease:

Granulomatous Disease, Chronic, X-Linked

0.700

CausalMutation

CLINVAR

Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene).

11462241

2001

dbSNP:

rs137854588

Entrez Id:	1536
Gene Symbol:	CYBB

CYBB

CUI:	C1844376
Disease:

Granulomatous Disease, Chronic, X-Linked

0.700

CausalMutation

CLINVAR

Haploidentical Hematopoietic Cell Transplantation with Post-Transplant Cyclophosphamide in a Patient with Chronic Granulomatous Disease and Active Infection: A First Report.

26453586

2015

dbSNP:

rs137854588

Entrez Id:	1536
Gene Symbol:	CYBB

CYBB

CUI:	C1844376
Disease:

Granulomatous Disease, Chronic, X-Linked

0.700

CausalMutation

CLINVAR

Genetic analysis of CYBB gene in 26 korean families with X-linked chronic granulomatous disease.

24999735

2014

dbSNP:

rs137854589

Entrez Id:	1536
Gene Symbol:	CYBB

CYBB

CUI:	C1844376
Disease:

Granulomatous Disease, Chronic, X-Linked

0.800

GeneticVariation

UNIPROT

Point mutations in the beta-subunit of cytochrome b558 leading to X-linked chronic granulomatous disease.

1710153

1991

dbSNP:

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:

rs137854589

Entrez Id:	1536
Gene Symbol:	CYBB

CYBB

CUI:	C1844376
Disease:

Granulomatous Disease, Chronic, X-Linked

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:

rs137854589

Entrez Id:	1536
Gene Symbol:	CYBB

CYBB

CUI:	C1844376
Disease:

Granulomatous Disease, Chronic, X-Linked

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:

rs137854589

Entrez Id:	1536
Gene Symbol:	CYBB

CYBB

CUI:	C1844376
Disease:

Granulomatous Disease, Chronic, X-Linked

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:

rs137854589

Entrez Id:	1536
Gene Symbol:	CYBB

CYBB

CUI:	C1844376
Disease:

Granulomatous Disease, Chronic, X-Linked

0.800

GeneticVariation

UNIPROT

Molecular analysis of chronic granulomatous disease caused by defects in gp91-phox.

9888386

1999

dbSNP:

rs137854589

Entrez Id:	1536
Gene Symbol:	CYBB

CYBB

CUI:	C1844376
Disease:

Granulomatous Disease, Chronic, X-Linked

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:

rs137854589

Entrez Id:	1536
Gene Symbol:	CYBB

CYBB

CUI:	C1844376
Disease:

Granulomatous Disease, Chronic, X-Linked

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