CGD
MCID: CHR012
MIFTS: 70

Chronic Granulomatous Disease (CGD) malady

Genetic diseases, Rare diseases, Immune diseases categories

Summaries for Chronic Granulomatous Disease

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22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 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 leishmaniasis. An important gene associated with Chronic Granulomatous Disease is CYBB (cytochrome b-245, beta polypeptide), and among its related pathways are Doxorubicin Pathway (Cardiomyocyte Cell), Pharmacodynamics and Type II interferon signaling (IFNG). The compounds hocl and phosphatidylinositol 3-phosphate have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and lung, and related mouse phenotypes are immune system and hematopoietic system.

Genetics Home Reference:22 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:66 Chronic granulomatous disease (CGD) (also known as Bridges?Good syndrome, Chronic granulomatous... more...

Description from OMIM:48 233690,233710,306400,233700

GeneReviews summary for cgd

Aliases & Classifications for Chronic Granulomatous Disease

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Sources:
9Disease Ontology, 66Wikipedia, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 32LifeMap Discovery™, 63UMLS, 36MeSH, 59SNOMED-CT, 41NCIt
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Immune diseases


Aliases & Descriptions:

chronic granulomatous disease 9 20 44 22 11 32
granulomatous disease, chronic 44 21 23 22 63
cgd 9 20 22
autosomal recessive chronic granulomatous disease 22
granulomatous disease, chronic, x-linked 63
chronic granulomatous disease, x-linked 48
x-linked chronic granulomatous disease 22
chronic granulomatous disorder 66
granulomatous disease chronic 46
immunodeficiency with thymoma 63
congenital dysphagocytosis 9
bridges-good syndrome 9
quie syndrome 9


External Ids:

Disease Ontology9 DOID:3265
MeSH36 D006105
NCIt41 C26788

Related Diseases for Chronic Granulomatous Disease

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18GeneCards, 19GeneDecks
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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 130)
idRelated DiseaseScoreTop Affiliating Genes
1aspergillosis31.0MT-CYB, IFNG, NCF2
2leishmaniasis30.3IFNG, MT-CYB
3osteomyelitis10.7
4hepatitis10.6
5lupus erythematosus10.6
6discoid lupus erythematosus10.5
7invasive aspergillosis10.5
8hematopoietic stem cell transplantation10.5
9pneumonia10.4
10job's syndrome10.4
11mcleod syndrome10.4
12chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type iii10.4
13chronic granulomatous disease, autosomal, due to deficiency of cyba10.4
14crohn's disease10.3
15chorioretinitis10.3
16lymphadenitis10.3
17nocardiosis10.3
18hemophagocytic lymphohistiocytosis10.3
19kawasaki disease10.3
20inflammatory bowel disease10.3
21keratitis10.3
22retinitis10.3
23tuberculosis10.3
24chronic granulomatous disease, autosomal recessive, cytochrome b-negative10.3
25chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type i10.3
26chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type ii10.3
27chronic granulomatous disease, x-linked10.3
28mcleod syndrome with or without chronic granulomatous disease10.3
29gastric outlet obstruction10.3
30chediak-higashi syndrome10.2
31acalculous cholecystitis10.2
32leukocyte adhesion deficiency10.2
33splenic abscess10.2
34retinitis pigmentosa10.2
35celiac disease10.2
36duchenne muscular dystrophy10.2
37visceral leishmaniasis10.2
38acne10.2
39cholecystitis10.2
40cystitis10.2
41esophagitis10.2
42hypertension10.2
43leukemia10.2
44meningitis10.2
45muscular dystrophy10.2
46sarcoidosis10.2
47thrombocytopenia10.2
48uveitis10.2
49williams syndrome10.2
50eosinophilic cystitis10.2

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



Diseases related to chronic granulomatous disease

Symptoms for Chronic Granulomatous Disease

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48OMIM
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Symptoms by clinical synopsis from OMIM:

306400

Clinical features from OMIM:

233690,233710,306400,233700

Drugs & Therapeutics for Chronic Granulomatous Disease

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 32LifeMap Discovery™, 63UMLS, 42NDF-RT
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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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21GeneTests, 23GTR
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Genetic tests related to Chronic Granulomatous Disease:

id Genetic test Affiliating Genes
1 Chronic Granulomatous Disease21 23 NCF4

Anatomical Context for Chronic Granulomatous Disease

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34MalaCards
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MalaCards organs/tissues related to Chronic Granulomatous Disease:

34
Bone, Skin, Lung, Bone marrow, Testes, Brain, Liver, B cells, T cells, Myeloid, Monocytes, Thymus, Prostate, Colon, B lymphoblasts, Spinal cord

Animal Models for Chronic Granulomatous Disease or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Chronic Granulomatous Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053877.9CYBA, STX11, IFNG, CORO1A, NCF4, CYBB
2MP:00053977.6NCF4, CORO1A, IFNG, STX11, CYBA, CYBB

Publications for Chronic Granulomatous Disease

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53PubMed
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Articles related to Chronic Granulomatous Disease:

(show top 50)    (show all 710)
idTitleAuthorsYear
1
Refractory invasive aspergillosis controlled with posaconazole and pulmonary surgery in a patient with chronic granulomatous disease: case report. (24401677)
2014
2
Undiagnosed Chronic Granulomatous Disease, Burkholderia cepacia complex Pneumonia, and Acquired Hemophagocytic Lymphohistiocytosis: A Deadly Association. (24058739)
2013
3
Reduced-intensity conditioning and HLA-matched haemopoietic stem-cell transplantation in patients with chronic granulomatous disease: a prospective multicentre study. (24161820)
2013
4
Rapid detection of intracellular p47phox and p67phox by flow cytometry; useful screening tests for chronic granulomatous disease. (23306776)
2013
5
Metacarpal osteomyelitis and chronic granulomatous disease. (23328827)
2013
6
Aspergillus nidulans and chronic granulomatous disease: a unique host-pathogen interaction. (22829648)
2012
7
Successful treatment of Aspergillus flavus spondylodiscitis with epidural abscess in a patient with chronic granulomatous disease. (21873929)
2012
8
Adenosine A(2A) receptor activation limits chronic granulomatous disease-induced hyperinflammation. (21130984)
2011
9
Chronic granulomatous disease and serious unilateral keratitis with bilateral conjunctivitis: a rare case of external ocular disease. (20163362)
2011
10
Chronic granulomatous disease, catalase, and Actinomyces. (20367233)
2010
11
Incomplete Kawasaki disease in a patient with chronic granulomatous disease. (20723110)
2010
12
Unusual presentation of brain aspergillosis in chronic granulomatous disease. (21093739)
2010
13
Impaired phagocytosis of apoptotic cells by macrophages in chronic granulomatous disease is reversed by IFN-I^ in a nitric oxide-dependent manner. (20805415)
2010
14
Vertebral osteomyelitis due to Aspergillus fumigatus in a patient with chronic granulomatous disease successfully treated with antifungal agents and interferon-gamma. (19886765)
2010
15
Atypical presentation of chronic granulomatous disease in an adolescent boy with frontal lobe located Aspergillus abscess mimicking intracranial tumor. (19859718)
2010
16
Carriers of X-linked chronic granulomatous disease at risk. (19004669)
2009
17
Multiple-azole-resistant Aspergillus fumigatus osteomyelitis in a patient with chronic granulomatous disease successfully treated with long-term oral posaconazole and surgery. (19101840)
2009
18
Autosomal recessive chronic granulomatous disease, IgA deficiency and refractory autoimmune thrombocytopenia responding to Anti-CD20 monoclonal antibody. (18780954)
2008
19
First successful bone marrow transplantation for X-linked chronic granulomatous disease by using preimplantation female gender typing and HLA matching. (18762514)
2008
20
Genetics, biology and clinical management of myeloid cell primary immune deficiencies: chronic granulomatous disease and leukocyte adhesion deficiency. (17133097)
2007
21
Treatment of McLeod phenotype chronic granulomatous disease with reduced-intensity conditioning and unrelated-donor umbilical cord blood transplantation. (17261504)
2007
22
Hazards of early BCG vaccination: BCGitis in a patient with chronic granulomatous disease. (17532851)
2007
23
Advances in the treatment of Chronic Granulomatous Disease by gene therapy. (17584034)
2007
24
Invasive aspergillosis in chronic granulomatous disease: report of 7 cases. (16804696)
2007
25
Malakoplakia of colon in a child with celiac disease and chronic granulomatous disease. (16877840)
2006
26
Abnormal apoptosis in chronic granulomatous disease and autoantibody production characteristic of lupus. (16249245)
2006
27
Burkholderia cenocepacia induces neutrophil necrosis in chronic granulomatous disease. (15749893)
2005
28
Granulocyte transfusions in children with chronic granulomatous disease and invasive aspergillosis. (15828925)
2005
29
Association of glucose-6-phosphate dehydrogenase deficiency and X-linked chronic granulomatous disease in a child with anemia and recurrent infections. (14978696)
2004
30
Chronic granulomatous disease caused by a deficiency in p47(phox) mimicking Crohn's disease. (15290662)
2004
31
Williams syndrome associated with Crohn disease, multiple infections, and chronic granulomatous disease. (15371121)
2004
32
Long-term high-level reconstitution of NADPH oxidase activity in murine X-linked chronic granulomatous disease using a bicistronic vector expressing gp91phox and a Delta LNGFR cell surface marker. (12804147)
2003
33
Itraconazole to prevent fungal infections in chronic granulomatous disease. (12802027)
2003
34
Underlying chronic granulomatous disease in a patient with bronchocentric granulomatosis. (14645984)
2003
35
A second case of somatic triple mosaicism in the CYBB gene causing chronic granulomatous disease. (11511930)
2001
36
Accelerated calcium influx and hyperactivation of neutrophils in chronic granulomatous disease. (11207656)
2001
37
Molecular analysis of 9 new families with chronic granulomatous disease caused by mutations in CYBA, the gene encoding p22(phox). (10910929)
2000
38
Elf-1 and PU.1 induce expression of gp91(phox) via a promoter element mutated in a subset of chronic granulomatous disease patients. (10233904)
1999
39
Eosinophilic pneumonia as a presentation of occult chronic granulomatous disease. (9311521)
1997
40
Treatment of intractable gastrointestinal manifestations of chronic granulomatous disease with cyclosporine. (7815206)
1995
41
A new mutation in exon 12 of the gp91-phox gene leading to cytochrome b-positive X-linked chronic granulomatous disease. (7756659)
1995
42
Neutrophils and mononuclear cells from patients with chronic granulomatous disease release nitric oxide. (8390277)
1993
43
Treatment of patients with chronic granulomatous disease with recombinant human interferon-gamma does not improve neutrophil oxidative metabolism, cytochrome b558 content or levels of four anti-microbial proteins. (1572085)
1992
44
Retroviral expression of recombinant p47phox protein by Epstein-Barr virus-transformed B lymphocytes from a patient with autosomal chronic granulomatous disease. (1313715)
1992
45
Interferon-gamma in the management of chronic granulomatous disease. (1962114)
1991
46
Kinetics of transfused neutrophils in peripheral blood and BAL fluid of a patient with variant X-linked chronic granulomatous disease. (1954982)
1991
47
Gene deletion in a patient with chronic granulomatous disease and McLeod syndrome: fine mapping of the Xk gene locus. (3334897)
1988
48
Discoid lupus erythematosus and X-linked chronic granulomatous disease. (3809020)
1986
49
Concomitant pulmonary aspergillosis and nocardiosis in a patient with chronic granulomatous disease of childhood. (6701605)
1984
50
Discoid lupus erythematosus and carrier status of X-linked chronic granulomatous disease. (6653847)
1983

Variations for Chronic Granulomatous Disease

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Chronic Granulomatous Disease:

65 (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

Clinvar genetic disease variations for Chronic Granulomatous Disease:

1 (show all 14)
id Gene Name Type Significance SNP ID Assembly Location
1CYBBNM_000397.3(CYBB): c.625C> T (p.His209Tyr)single nucleotide variantPathogenicrs137854587GRCh37Chr X, 37655345: 37655345
2CYBBNM_000397.3(CYBB): c.217C> T (p.Arg73Ter)single nucleotide variantPathogenicrs137854588GRCh37Chr X, 37642818: 37642818
3CYBBNM_000397.3(CYBB): c.911C> G (p.Pro304Arg)single nucleotide variantPathogenicrs137854596GRCh37Chr X, 37663143: 37663143
4CYBBCYBB, EX12DELdeletionPathogenic
5CYBBNM_000397.3(CYBB): c.676C> T (p.Arg226Ter)single nucleotide variantPathogenicrs137854592GRCh37Chr X, 37658209: 37658209
6CYBBCYBB, IVS3, G-A, +5single nucleotide variantPathogenic
7CYBBNM_000397.3(CYBB): c.1499A> G (p.Asp500Gly)single nucleotide variantPathogenicrs137854593GRCh37Chr X, 37668857: 37668857
8CYBBNM_000397.3(CYBB): c.252G> A (p.Ala84=)single nucleotide variantPathogenicrs387906485GRCh37Chr X, 37642853: 37642853
9CYBBCYBB, IN5, L1 INSinsertionPathogenic
10CYBBCYBB, 252G-Asingle nucleotide variantPathogenic
11CYBBCYBB, IVS5, G-T, +978single nucleotide variantPathogenic
12CYBBCYBB, EX4, L1 INSinsertionPathogenic
13CYBBCYBB, IVS1, T-C, +6single nucleotide variantPathogenic
14CYBBNM_000397.3(CYBB): c.90_92delCCGinsGGT (p.Tyr30Ter)indelPathogenicrs387906486GRCh37Chr X, 37641385: 37641387

Expression for genes affiliated with Chronic Granulomatous Disease

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2BioGPS, 16Gene 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:
51PathCards, 52PharmGKB, 39NCBI BioSystems Database, 5Cell Signaling Technology, 54QIAGEN, 56Reactome, 31KEGG, 61Thomson Reuters
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Pathways related to Chronic Granulomatous Disease according to GeneCards/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8NCF4, CYBA
29.7IFNG, CYBB
39.6NCF2, NCF1, NCF4
4
Show member pathways
9.3CYBB, NCF4, NCF1, NCF2
5
Show member pathways
9.3CYBB, CYBA, NCF4, NCF2
69.2CYBB, CYBA, NCF1, NCF2
7
Show member pathways
RAC1 signaling pathway39
9.2CYBB, CYBA, NCF1, NCF2
8
Show member pathways
9.2NCF2, NCF1, CYBA, CYBB
9
Show member pathways
Cytoskeleton remodeling CDC42 in cellular processes61
9.2NCF2, NCF1, CYBA, CYBB
10
Show member pathways
9.0CYBB, CYBA, NCF4, NCF1, NCF2
11
Show member pathways
9.0NCF2, NCF1, NCF4, CYBA, CYBB
129.0NCF2, NCF1, NCF4, CYBA, CYBB
13
Show member pathways
Proteasome Degradation39
Immune response Antigen presentation by MHC class I61
8.7CYBB, CYBA, IFNG, NCF4, NCF2
148.7CYBB, CYBA, STX11, NCF4, NCF2
15
Show member pathways
8.7CYBA, IFNG, NCF4, NCF1, NCF2
168.4NCF2, NCF1, NCF4, IFNG, CYBA, CYBB
178.3CYBB, CYBA, CORO1A, NCF4, NCF1, NCF2

Compounds for genes affiliated with Chronic Granulomatous Disease

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46Novoseek, 62Tocris Bioscience, 12DrugBank, 25HMDB, 30IUPHAR
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Compounds related to Chronic Granulomatous Disease according to GeneCards/GeneDecks:

(show all 26)
idCompoundScoreTop Affiliating Genes
1hocl4610.1CYBA, NCF2
2phosphatidylinositol 3-phosphate4610.1NCF4, NCF2
3nitroblue tetrazolium4610.1CYBB, MT-CYB
4apocynin46 6210.9NCF2, CYBA, CYBB
5diphenyleneiodonium469.9CYBB, CYBA, NCF2
6n-formylmethionyl-leucylphenylalanine469.9CYBA, NCF2
7fumarate46 1210.8MT-CYB, IFNG
8guanosine46 25 1211.8CYBB, NCF2
9fmlp469.8NCF2, NCF4, MT-CYB
10heme30 25 1211.7MT-CYB, CYBA, CYBB
11histidine469.7MT-CYB, CYBA, CYBB
12arachidonic acid46 30 25 1212.6CYBB, CYBA, NCF4, NCF2
13peroxynitrite469.6CYBA, CYBB
14butyrate469.5CYBB, IFNG, NCF2
15proline469.5NCF2, NCF4, CYBA
16flavin469.5CYBB, CYBA, MT-CYB, NCF2
17oligonucleotide469.5NCF2, NCF4, CYBA, CYBB
18nadh46 25 1211.5NCF2, MT-CYB, CYBA, CYBB
19h2o2469.4NCF2, MT-CYB, CYBA, CYBB
20glucose469.2CYBB, CYBA, MT-CYB, NCF2
21leucine469.2CORO1A, MT-CYB, CYBB
22oxygen46 2510.2CYBB, CYBA, MT-CYB, NCF4, NCF2
23retinoic acid46 2510.1NCF2, IFNG, CLEC11A, CYBB
24nitric oxide46 25 1210.9CYBB, CYBA, MT-CYB, IFNG, NCF2
25superoxide46 259.8CYBB, CYBA, CLEC11A, MT-CYB, NCF4, NCF2
26nadph46 258.8NCF2, CYBB, CYBA, CLEC11A, MT-CYB, CORO1A

GO Terms for genes affiliated with Chronic Granulomatous Disease

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17Gene Ontology
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Cellular components related to Chronic Granulomatous Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1rough endoplasmic reticulumGO:0057919.9NCF1, CYBB
2phagolysosomeGO:0320109.7NCF4, NCF1, NCF2
3dendriteGO:0304259.5NCF1, CYBA, CYBB
4phagocytic vesicle membraneGO:0306709.3CORO1A, CYBA, CYBB
5neuronal cell bodyGO:0430259.3CYBB, CYBA, NCF1
6NADPH oxidase complexGO:0430209.1NCF2, NCF1, NCF4, CYBA, CYBB
7Golgi apparatusGO:0057949.0CYBB, CYBA, STX11, NCF1

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1cellular defense responseGO:0069689.9NCF2, NCF1
2hydrogen peroxide biosynthetic processGO:0506659.7CYBB, CYBA, NCF1
3respiratory burstGO:0457309.5NCF2, NCF1, CYBA, CYBB
4superoxide anion generationGO:0425549.5CYBB, CYBA, NCF1, NCF2
5superoxide metabolic processGO:0068019.5NCF2, NCF1, CYBA, CYBB
6inflammatory responseGO:0069549.5CYBB, CYBA, NCF1
7oxidation-reduction processGO:0551149.4NCF1, NCF4, CYBA, CYBB
8interaction with hostGO:0517019.3NCF2, NCF1, NCF4, CYBA, CYBB
9phagosome maturationGO:0903829.2CYBB, CYBA, NCF4, NCF1, NCF2
10antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependentGO:0024799.2CYBB, CYBA, NCF4, NCF1, NCF2
11antigen processing and presentation of exogenous peptide antigen via MHC class IGO:0425909.2CYBB, CYBA, NCF4, NCF1, NCF2
12antigen processing and presentation of peptide antigen via MHC class IGO:0024749.1NCF2, NCF1, NCF4, CYBA, CYBB
13positive regulation of T cell proliferationGO:0421029.0CORO1A, IFNG
14response to drugGO:0424939.0NCF2, IFNG, CYBA, CYBB
15innate immune responseGO:0450878.7CYBB, CYBA, CORO1A, NCF1, NCF2

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

idNameGO IDScoreTop Affiliating Genes
1superoxide-generating NADPH oxidase activityGO:0161759.5NCF1, CYBA, CYBB
2electron carrier activityGO:0090558.9CYBB, CYBA, NCF1, NCF2
3protein bindingGO:0055156.6CYBA, STX11, XK, CORO1A, NCF4, NCF1

Products for genes affiliated with Chronic Granulomatous Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Chronic Granulomatous Disease

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet