CGD
MCID: CHR012
MIFTS: 72

Chronic Granulomatous Disease (CGD) malady

Immune diseases category

Summaries for Chronic Granulomatous Disease

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Chronic granulomatous disease (cgd) is a rare, inherited, primary immune deficiency disorder that affects certain white blood cells. it is characterized by an inability to resist repeated infectious diseases and a tendency to develop chronic inflammation. symptoms usually begin in infancy or childhood and include life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, and bones; swollen areas of inflamed tissues known as granulomas; and other symptoms. it is caused by mutations in any one of four different genes and is usually inherited in an autosomal recessive or x-linked recessive manner. treatment consists of continuous antibiotic therapy to help prevent infections and corticosteroid drugs for treating granulomatous complications. last updated: 5/12/2011

MalaCards: Chronic Granulomatous Disease, also known as granulomatous disease, chronic, is related to aspergillosis and tuberculosis. An important gene associated with Chronic Granulomatous Disease is CYBB (cytochrome b-245, beta polypeptide), and among its related pathways are Cytoskeleton remodeling CDC42 in cellular processes and G-protein signaling Rac2 regulation pathway. The compounds flavin and apocynin have been mentioned in the context of this disorder. Affiliated tissues include bone, lung and skin, and related mouse phenotypes are homeostasis/metabolism and immune system.

Genetics Home Reference:21 Chronic granulomatous disease is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria and fungi. Individuals with chronic granulomatous disease have recurrent bacterial and fungal infections. People with this condition often have areas of inflammation (granulomas) in various tissues that can be damaging to those tissues. The features of chronic granulomatous disease usually first appear in childhood, although some individuals do not show symptoms until later in life.

Wikipedia:63 Chronic granulomatous disease (CGD) (also known as Bridges–Good syndrome, Chronic granulomatous... more...

Description from OMIM:46 306400,233710,233700,233690

GeneReviews summary for cgd

Aliases & Classifications for Chronic Granulomatous Disease

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8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 30LifeMap Discovery™, 63Wikipedia, 20GeneTests, 22GTR, 60UMLS, 46OMIM, 44Novoseek, 39NCIt, 56SNOMED-CT, 34MeSH
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Immune diseases


Aliases & Descriptions:

chronic granulomatous disease 8 19 42 21 10 30
granulomatous disease, chronic 42 20 22 21 60
cgd 8 19 21
autosomal recessive chronic granulomatous disease 21
granulomatous disease, chronic, x-linked 60
chronic granulomatous disease, x-linked 46
x-linked chronic granulomatous disease 21
chronic granulomatous disorder 63
immunodeficiency with thymoma 60
granulomatous disease chronic 44
congenital dysphagocytosis 8
bridges-good syndrome 8
quie syndrome 8


External Ids:

Disease Ontology8 DOID:3265
NCIt39 C26788
MeSH34 D006105

Related Diseases for Chronic Granulomatous Disease

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17GeneCards, 18GeneDecks
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Diseases related to Chronic Granulomatous Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 159)
idRelated DiseaseScoreTop Affiliating Genes
1aspergillosis31.0IFNG, MT-CYB, NCF2
2tuberculosis30.4PRF1, IFNG, CCR1
3hemophagocytic lymphohistiocytosis30.4PRF1, STX11
4leishmaniasis30.2MT-CYB, IFNG
5hypertension30.2DECR1, CYBA, NOX1
6leukemia30.2CCR1, IFNG, ITGAX, CYBA, CYBB
7x-linked disease11.1
8autosomal recessive disease10.7
9osteomyelitis10.7
10granulomatous hepatitis10.6
11hepatitis10.6
12lupus erythematosus10.6
13invasive aspergillosis10.6
14chromosomal disease10.5
15leukocyte disease10.5
16brain disease10.4
17liver disease10.4
18pneumonia10.4
19mcleod syndrome10.4
20job's syndrome10.4
21heavy chain disease10.4
22chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type iii10.4
23chronic granulomatous disease, autosomal, due to deficiency of cyba10.4
24good syndrome10.3
25crohn's disease10.3
26hepatitis a10.3
27chorioretinitis10.3
28lymphadenitis10.3
29skin disease10.3
30nocardiosis10.3
31kawasaki disease10.3
32inflammatory bowel disease10.3
33keratitis10.3
34retinal disease10.3
35retinitis10.3
36splenic disease10.3
37williams syndrome10.3
38chronic granulomatous disease, autosomal recessive, cytochrome b-negative10.3
39chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type i10.3
40chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type ii10.3
41chronic granulomatous disease, x-linked10.3
42mcleod syndrome with or without chronic granulomatous disease10.3
43acalculous cholecystitis10.2
44chediak-higashi syndrome10.2
45visceral leishmaniasis10.2
46leukocyte adhesion deficiency10.2
47retinitis pigmentosa10.2
48splenic abscess10.2
49celiac disease10.2
50duchenne muscular dystrophy10.2

Graphical network of the top 20 diseases related to Chronic Granulomatous Disease:



Diseases related to chronic granulomatous disease

Clinical Features for Chronic Granulomatous Disease

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46OMIM
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Clinical features from OMIM:

306400,233710,233700,233690

Clinical synopsis from OMIM:

306400

Drugs & Therapeutics for Chronic Granulomatous Disease

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Chronic Granulomatous Disease

Drug clinical trials:

Search ClinicalTrials for Chronic Granulomatous Disease

Search NIH Clinical Center for Chronic Granulomatous Disease

Search CenterWatch for Chronic Granulomatous Disease

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Chronic Granulomatous Disease cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Chronic Granulomatous Disease:
ALD-151, umbilical cord blood cells for hematologic and immunodefeciency diseases
Embryonic/Adult Cultured Cells Related to Chronic Granulomatous Disease:
Umbilical cord blood ALDH+ cells (ALD-151), PMID: 10430905

Genetic Tests for Chronic Granulomatous Disease

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20GeneTests, 22GTR
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Genetic tests related to Chronic Granulomatous Disease:

id Genetic test Affiliating Genes
1 Chronic Granulomatous Disease20 22 NCF4

Anatomical Context for Chronic Granulomatous Disease

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32MalaCards
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MalaCards organs/tissues related to Chronic Granulomatous Disease:

32
Bone, Lung, Skin, Bone marrow, Testes, Brain, Liver, B cells, T cells, Myeloid, Monocytes, Prostate, Colon, Thymus, Spinal cord, B lymphoblasts

Animal Models for Chronic Granulomatous Disease or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Chronic Granulomatous Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053769.8IFNG, STX11, PRF1, DECR1, NCF1C, LTBR
2MP:00053879.4NOX1, CORO1A, CCR1, IFNG, STX11, ITGAX

Publications for Chronic Granulomatous Disease

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50PubMed
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Articles related to Chronic Granulomatous Disease:

(show top 50)    (show all 719)
idTitleAuthorsYear
1
Rapid determination of chimerism status using dihydrorhodamine assay in a patient with X-linked chronic granulomatous disease following hematopoietic stem cell transplantation. (23826567)
2013
2
Cognitive ability in children with chronic granulomatous disease: a comparison of those managed conservatively with those who have undergone hematopoietic stem cell transplant. (23397467)
2013
3
Persistence of the bacterial pathogen Granulibacter bethesdensis in chronic granulomatous disease monocytes and macrophages lacking a functional NADPH oxidase. (23956436)
2013
4
Mycobacterium tuberculosis meningitis as the first presentation of chronic granulomatous disease. (22964288)
2012
5
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
6
Chronic granulomatous disease and serious unilateral keratitis with bilateral conjunctivitis: a rare case of external ocular disease. (20163362)
2011
7
High levels of Crohn's disease-associated anti-microbial antibodies are present and independent of colitis in chronic granulomatous disease. (20956091)
2011
8
Hemophagocytic lymphohistiocytosis in children with chronic granulomatous disease. (21225928)
2011
9
Allogeneic haematopoietic stem cell transplantation as therapy for chronic granulomatous disease--single centre experience. (21384251)
2011
10
BCGiosis as a presenting feature of a child with chronic granulomatous disease. (21412596)
2011
11
TNF-I+ blockade in chronic granulomatous disease-induced hyperinflammation: patient analysis and murine model. (21596423)
2011
12
Chronic granulomatous disease, catalase, and Actinomyces. (20367233)
2010
13
Three Mendelian disorders (chronic granulomatous disease, retinitis pigmentosa, ornithine transcarbamylase deficiency) in a young woman with an X chromosome deletion, del(X)(p11.4p21.1). (20036594)
2010
14
Orofacial findings in chronic granulomatous disease: report of twelve patients and review of the literature. (20163723)
2010
15
Retrovirus gene therapy for X-linked chronic granulomatous disease can achieve stable long-term correction of oxidase activity in peripheral blood neutrophils. (19965657)
2010
16
Fulminant mulch pneumonitis in undiagnosed chronic granulomatous disease: a medical emergency. (20724349)
2010
17
Nonresolving inflammation in gp91phox-/- mice, a model of human chronic granulomatous disease, has lower adenosine and cyclic adenosine 5'-monophosphate. (19234224)
2009
18
Ocular manifestations in chronic granulomatous disease in Saudi Arabia. (19683193)
2009
19
Chronic granulomatous disease in an adolescent with recurrent impetigo and cholecystectomy. (19165129)
2009
20
Renal amyloidosis in a child with chronic granulomatous disease and invasive aspergillosis. (18188609)
2008
21
Prevalence of chronic granulomatous disease in pediatric patients diagnosed with Crohn's disease. (18069673)
2008
22
Lessons about the pathogenesis and management of aspergillosis from studies in chronic granulomatous disease. (18528501)
2007
23
Chronic granulomatous disease with recurrent hepatic abscesses in an adult. (17914526)
2007
24
Abnormal apoptosis in chronic granulomatous disease and autoantibody production characteristic of lupus. (16249245)
2006
25
A splice-supporting intronic mutation in the last bp position of a cryptic exon within intron 6 of the CYBB gene induces its incorporation into the mRNA causing chronic granulomatous disease (CGD). (16516412)
2006
26
Chronic granulomatous disease presenting with disseminated intracranial aspergillosis. (15931655)
2006
27
Skewing of X-chromosome inactivation in three generations of carriers with X-linked chronic granulomatous disease within one family. (16620288)
2006
28
Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16 or SETBP1. (16582916)
2006
29
Burkholderia cenocepacia induces neutrophil necrosis in chronic granulomatous disease. (15749893)
2005
30
Chronic granulomatous disease: two members of a single family with different dermatologic manifestations. (16282759)
2005
31
Cutaneous alternariosis with chronic granulomatous disease. (16172055)
2005
32
A donor splice site mutation in intron 1 of CYBA, leading to chronic granulomatous disease. (16157492)
2005
33
Williams syndrome associated with Crohn disease, multiple infections, and chronic granulomatous disease. (15371121)
2004
34
Osteomyelitis due to Aspergillus spp. in patients with chronic granulomatous disease: comparison of Aspergillus nidulans and Aspergillus fumigatus. (14732328)
2004
35
Fatal disseminated Candida lusitaniae infection in an infant with chronic granulomatous disease. (12005097)
2002
36
IFN-gamma is effective in reducing infections in the mouse model of chronic granulomatous disease (CGD). (11559434)
2001
37
Genetic studies of three Japanese patients with p22-phox-deficient chronic granulomatous disease: detection of a possible common mutant CYBA allele in Japan and a genotype-phenotype correlation in these patients. (10759707)
2000
38
Manganese superoxide dismutase and catalase are coordinately expressed in the alveolar region in chronic interstitial pneumonias and granulomatous diseases of the lung. (10673208)
2000
39
Host defense molecule polymorphisms influence the risk for immune-mediated complications in chronic granulomatous disease. (9854050)
1998
40
Dose-dependent enhancements by interferon-gamma on functional responses of neutrophils from chronic granulomatous disease patients. (9129047)
1997
41
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
42
Chronic granulomatous disease of childhood: respiratory cytology. (8872429)
1996
43
A new mutation in exon 12 of the gp91-phox gene leading to cytochrome b-positive X-linked chronic granulomatous disease. (7756659)
1995
44
Clonal growth of functionally normal and deficient neutrophils from the bone marrow of a patient with variant chronic granulomatous disease. Lack of reconstitution of oxidative burst defect by G-CSF, GM-CSF, and IFN-gamma in vitro. (7679293)
1993
45
Restitution of superoxide generation in autosomal cytochrome-negative chronic granulomatous disease (A22(0) CGD)-derived B lymphocyte cell lines by transfection with p22phax cDNA. (8245781)
1993
46
Recombinant interferon gamma for treatment of chronic granulomatous disease and other disorders. (1341990)
1992
47
Point mutations in the beta-subunit of cytochrome b558 leading to X- linked chronic granulomatous disease. (1710153)
1991
48
Increased phagocytic activity of polymorphonuclear leukocytes of chronic granulomatous disease as determined with flow cytometric assay. (1849170)
1991
49
Activation of O2(-)-generating oxidase in an heterologous cell-free system derived from Epstein-Barr-virus-transformed human B lymphocytes and bovine neutrophils. Application to the study of defects in cytosolic factors in chronic granulomatous disease. (1662136)
1991
50
Discoid lupus erythematosus-like lesions in an autosomal form of chronic granulomatous disease. (3947541)
1986

Genetic Variations for Chronic Granulomatous Disease

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Chronic Granulomatous Disease:

62 (show all 59)
id Symbol AA change Variation ID SNP ID
1CYBBp.His101ArgVAR_002432rs137854591
2CYBBp.Ala156ThrVAR_002433rs137854590
3CYBBp.His209TyrVAR_002434rs137854587
4CYBBp.Glu225ValVAR_002435rs151344494
5CYBBp.Cys244SerVAR_002436rs137854589
6CYBBp.Cys244TyrVAR_002437rs137854589
7CYBBp.Pro339HisVAR_002438rs151344470
8CYBBp.Gly389AlaVAR_002439rs137854586
9CYBBp.Pro415HisVAR_002440rs137854585
10CYBBp.Asp500GlyVAR_002441rs137854593
11CYBBp.Gly20ArgVAR_007873rs151344455
12CYBBp.Arg54SerVAR_007874rs151344456
13CYBBp.Cys59ArgVAR_007875rs151344457
14CYBBp.His101TyrVAR_007876rs137854594
15CYBBp.His119ArgVAR_007877rs151344458
16CYBBp.His209GlnVAR_007878rs151344459
17CYBBp.His222AsnVAR_007880rs151344460
18CYBBp.His222ArgVAR_007881rs151344462
19CYBBp.His222TyrVAR_007882rs151344460
20CYBBp.Gly223LeuVAR_007883rs151344463
21CYBBp.Cys244ArgVAR_007884rs151344465
22CYBBp.Glu309LysVAR_007885rs151344466
23CYBBp.Gly322GluVAR_007886rs151344467
24CYBBp.Ile325PheVAR_007887rs151344468
25CYBBp.Ser333ProVAR_007888rs151344469
26CYBBp.Arg356ProVAR_007889rs151344471
27CYBBp.Met405ArgVAR_007890rs151344472
28CYBBp.Gly408GluVAR_007891rs151344474
29CYBBp.Gly408ArgVAR_007892rs151344473
30CYBBp.Pro415LeuVAR_007893rs137854585
31CYBBp.Ser422ProVAR_007894rs151344475
32CYBBp.Trp453ArgVAR_007895rs151344476
33CYBBp.Trp516CysVAR_007896rs151344477
34CYBBp.Val534AspVAR_007897rs151344478
35CYBBp.Cys537ArgVAR_007898rs151344454
36CYBBp.Ala57GluVAR_008845rs151344481
37CYBBp.His303AsnVAR_016880rs137854595
38CYBBp.Pro304ArgVAR_016881rs137854596
39CYBBp.Tyr41AspVAR_025613rs151344453
40CYBBp.Arg54MetVAR_025614rs151344479
41CYBBp.Ala55AspVAR_025615rs151344480
42CYBBp.His209ArgVAR_025616rs151344482
43CYBBp.Ala224GlyVAR_025617rs151344483
44CYBBp.His338TyrVAR_025618rs151344484
45CYBBp.Ser344PheVAR_025619rs151344485
46CYBBp.Gly389GluVAR_025621rs137854586
47CYBBp.Leu420ProVAR_025622rs151344486
48CYBBp.Trp516ArgVAR_025623rs151344487
49CYBBp.Trp18CysVAR_047264
50CYBBp.Cys59TrpVAR_047266rs151344488
51CYBBp.Gly179ArgVAR_047267rs151344491
52CYBBp.Ser193PheVAR_047268rs151344493
53CYBBp.Phe205IleVAR_047269rs151344496
54CYBBp.Thr307ProVAR_047271rs151344489
55CYBBp.Leu342GlnVAR_047273rs151344495
56CYBBp.Leu505ArgVAR_047275rs151344490
57CYBBp.Leu546ProVAR_047276rs151344492
58CYBBp.Ala488AspVAR_068012
59CYBBp.Asp500GluVAR_068013

Expression for genes affiliated with Chronic Granulomatous Disease

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Chronic Granulomatous Disease

Search GEO for disease gene expression data for Chronic Granulomatous Disease.

Pathways for genes affiliated with Chronic Granulomatous Disease

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Sources:
12EMD Millipore, 53Reactome, 29KEGG, 37NCBI BioSystems Database, 51QIAGEN
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Pathways related to Chronic Granulomatous Disease according to GeneCards/GeneDecks:

(show all 18)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Cytoskeleton remodeling CDC42 in cellular processes
Hide members
10.3CYBB, CYBA, NCF2, NCF1
210.3NCF1, NCF2, CYBA, CYBB
3
Immune response CCR3 signaling in eosinophils
Hide members
10.3NCF1, NCF2, CYBA, CYBB
410.2CYBB, CYBA, NCF4, NCF2, NCF1
5
Hide members
10.2NCF1, NCF2, NCF4, CYBA, CYBB
6
Hide members
10.2NCF1, NCF2, NCF4, CYBA, CYBB
7
Inhibitory action of Lipoxins on Superoxide production in neutrophils
10.2NCF1, NCF2, NCF4, CYBA, CYBB
8
Hide members
10.2IFNG, NCF1, NCF2, NCF4, CYBA
910.2NOX1, CYBB, LTBR, IFNG
10
Hide members
10.2NOX1, CYBB, CYBA, NCF2, NCF1
11
Hide members
10.2CYBB, CYBA, NCF4, NCF2, NCF1, IFNG
12
Hide members
10.2IFNG, NCF1, NCF2, NCF4, CYBA, CYBB
1310.2STX11, NCF1, NCF2, NCF4, CYBA, CYBB
1410.2NCF1, NCF2, NCF4, CYBA, CYBB, NOX1
15
Hide members
10.1CCR1, NCF1, NCF2, NCF4, CYBB, NOX1
1610.1IFNG, NCF1, NCF2, NCF4, CYBA, CYBB
1710.1CORO1A, NCF1, NCF2, NCF4, CYBA, CYBB
18
Hide members
10.0CCR1, ITGAX, NCF1, NCF2, NCF4, CYBA

Compounds for genes affiliated with Chronic Granulomatous Disease

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Sources:
44Novoseek, 59Tocris Bioscience, 28IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Chronic Granulomatous Disease according to GeneCards/GeneDecks:

(show all 19)
idCompoundScoreTop Affiliating Genes
1flavin4410.6MT-CYB, NCF2, CYBA, CYBB
2apocynin44 5911.6NCF2, CYBA, CYBB, NOX1
3diphenyleneiodonium4410.5NCF2, CYBA, CYBB, NOX1
4butyrate4410.4CCR1, IFNG, ITGAX, NCF2, CYBB
5fmlp4410.4ITGAX, MT-CYB, NCF2, NCF4
6n-formylmethionyl-leucylphenylalanine4410.4ITGAX, NCF2, CYBA
7heme28 11 2412.4NOX1, CYBB, CYBA, MT-CYB
8arachidonic acid44 28 11 2413.4ITGAX, NCF2, NCF4, CYBA, CYBB
9fumarate44 1111.4MT-CYB, IFNG
10histidine4410.3MT-CYB, PRF1, CYBA, CYBB
11oxygen44 2411.3ITGAX, MT-CYB, NCF2, NCF4, CYBA, CYBB
12nitric oxide44 11 2412.3CCR1, IFNG, ITGAX, MT-CYB, NCF2, CYBA
13retinoic acid44 2411.3CCR1, IFNG, ITGAX, NCF2, LTBR, CYBB
14cycloheximide4410.3PRF1, MT-CYB, ITGAX, IFNG, CCR1
15superoxide44 2411.2PRF1, MT-CYB, ITGAX, CCR1, NCF2, NCF4
16h2o24410.2MT-CYB, NCF2, CYBA, CYBB, NOX1
17nadh44 11 2412.2MT-CYB, NCF2, CYBA, CYBB
18hocl4410.1CYBA, NCF2
19nadph44 2411.1NOX1, CORO1A, MT-CYB, DECR1, NCF1, NCF2

GO Terms for genes affiliated with Chronic Granulomatous Disease

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Sources:
16Gene Ontology
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Cellular components related to Chronic Granulomatous Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1phagocytic vesicle membraneGO:03067010.3CYBB, CYBA, CORO1A
2NADPH oxidase complexGO:04302010.1NOX1, CYBB, CYBA, NCF4, NCF2, NCF1
3phagolysosomeGO:03201010.0NCF1, NCF2, NCF4

Biological processes related to Chronic Granulomatous Disease according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1hydrogen peroxide biosynthetic processGO:05066510.5CYBB, CYBA, NCF1
2respiratory burstGO:04573010.5NOX1, CYBB, CYBA, NCF2, NCF1
3interaction with hostGO:05170110.5NCF1, NCF2, NCF4, CYBA, CYBB
4superoxide anion generationGO:04255410.5NCF1, NCF2, CYBA, CYBB, NOX1
5phagosome maturationGO:09038210.5CYBB, CYBA, NCF4, NCF2, NCF1
6superoxide metabolic processGO:00680110.5NOX1, CYBB, CYBA, NCF2, NCF1
7antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependentGO:00247910.5NCF1, NCF2, NCF4, CYBA, CYBB
8antigen processing and presentation of exogenous peptide antigen via MHC class IGO:04259010.5NCF1, NCF2, NCF4, CYBA, CYBB
9antigen processing and presentation of peptide antigen via MHC class IGO:00247410.4NCF1, NCF2, NCF4, CYBA, CYBB
10cell communicationGO:00715410.4NCF1, NCF1C, NCF4, NCF1B
11oxidation-reduction processGO:05511410.4NOX1, CYBB, CYBA, NCF4
12cellular defense responseGO:00696810.3NCF2, NCF1, PRF1
13defense response to virusGO:05160710.3PRF1, ITGAX, IFNG
14inflammatory responseGO:00695410.3CCR1, NCF1, CYBA, CYBB, NOX1
15innate immune responseGO:04508710.1CORO1A, NCF1, NCF2, CYBA, CYBB
16positive regulation of osteoclast differentiationGO:04567210.1IFNG, CCR1

Molecular functions related to Chronic Granulomatous Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Rac GTPase bindingGO:04836510.3NOX1, NCF2
2phosphatidylinositol bindingGO:03509110.2NCF1, NCF1C, NCF4, NCF1B
3superoxide-generating NADPH oxidase activityGO:01617510.1NOX1, CYBB, CYBA, NCF1B, NCF1C, NCF2
4electron carrier activityGO:00905510.0CYBB, CYBA, NCF2, NCF1
5protein bindingGO:0055159.5XK, CORO1A, CCR1, KEL, STX11, ITGAX

Products for genes affiliated with Chronic Granulomatous Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Chronic Granulomatous Disease

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet