MCID: CHR012
MIFTS: 69

Chronic Granulomatous Disease

Categories: Rare diseases, Eye diseases, Gastrointestinal diseases, Respiratory diseases, Skin diseases, Blood diseases, Bone diseases, Immune diseases

Aliases & Classifications for Chronic Granulomatous Disease

MalaCards integrated aliases for Chronic Granulomatous Disease:

Name: Chronic Granulomatous Disease 38 12 76 24 53 25 59 37 29 6 15 73
Granulomatous Disease, Chronic 53 25 44 40
Cgd 12 24 25 59
Autosomal Recessive Chronic Granulomatous Disease 25 73
X-Linked Chronic Granulomatous Disease 25 73
Granulomatous Disease, Chronic, X-Linked, Variant 6
Granulomatous Disease, Chronic, X-Linked 73
Chronic Granulomatous Disorder 76
Chronic Septic Granulomatosis 59
Granulomatous Disease Chronic 55
Congenital Dysphagocytosis 12
Bridges-Good Syndrome 12
Quie Syndrome 12

Characteristics:

Orphanet epidemiological data:

59
chronic granulomatous disease
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: 1-9/1000000 (Worldwide),1-9/1000000 (United States),1-9/1000000 (Europe),1-9/1000000 (United Kingdom),1-9/1000000 (France),1-9/1000000 (Sweden),1-9/1000000 (Italy),1-9/1000000 (Denmark),1-9/1000000 (Netherlands),<1/1000000 (Australia),1-9/1000000 (Japan),1-9/1000000 (Korea, Republic of),1-9/1000000 (Latin America),1-9/1000000 (Israel); Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: adult,young Adult;

Classifications:



External Ids:

Disease Ontology 12 DOID:3265
ICD10 33 D71
MeSH 44 D006105
NCIt 50 C26788
Orphanet 59 ORPHA379
MESH via Orphanet 45 D006105
UMLS via Orphanet 74 C0018203
ICD10 via Orphanet 34 D71
KEGG 37 H00098

Summaries for Chronic Granulomatous Disease

NIH Rare Diseases : 53 Chronic granulomatous disease (CGD) is a rare, inheritedimmunodeficiency that affects certain white blood cells. People with this condition have immune systems that do not function properly, leaving the body vulnerable to chronic inflammation and frequent bacterial and fungal infections. The features of this condition usually develop in infancy or early childhood; however, milder forms may be diagnosed in the teen years or even in adulthood. It is caused by changes (mutations) in any one of five different genes and is usually inherited in an autosomal recessive or X-linked recessive manner. Treatment consists of continuous therapy with antibiotic and antifungal medications to treat and prevent infections. The only cure for the disease is an allogeneic hematopoietic stem cell transplantation (HSCT). 

MalaCards based summary : Chronic Granulomatous Disease, also known as granulomatous disease, chronic, is related to colitis and acatalasemia. An important gene associated with Chronic Granulomatous Disease is CYBB (Cytochrome B-245 Beta Chain), and among its related pathways/superpathways are Fc gamma R-mediated phagocytosis and Innate Immune System. The drugs Niacin and Nicotinamide have been mentioned in the context of this disorder. Affiliated tissues include bone, neutrophil and lung, and related phenotypes are gingivitis and sinusitis

Disease Ontology : 12 A phagocyte bactericidal dysfunction characterized by an inability to resist repeated infectious diseases and a tendency to develop chronic inflammation. Life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, and bones may occur along with swollen areas of inflamed tissues known as granulomas that can be widely distributed.

Genetics Home Reference : 25 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 from foreign invaders such as bacteria and fungi. Individuals with chronic granulomatous disease may have recurrent bacterial and fungal infections. People with this condition may also have areas of inflammation (granulomas) in various tissues that can result in damage 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 : 76 Chronic granulomatous disease (CGD) (also known as Bridges–Good syndrome, chronic granulomatous... more...

GeneReviews: NBK99496

Related Diseases for Chronic Granulomatous Disease

Diseases in the Chronic Granulomatous Disease family:

Granulomatous Disease, Chronic, Autosomal Dominant Type

Diseases related to Chronic Granulomatous Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 177)
# Related Disease Score Top Affiliating Genes
1 colitis 30.5 IFNG IL1B MPO TLR9
2 acatalasemia 30.1 CAT MT-CYB
3 pneumonia 30.0 CSF3 IL1B MPO TLR9
4 meningitis 30.0 IFNG IL1B TLR9
5 visceral leishmaniasis 29.8 IFNG IL1B TLR9
6 myeloperoxidase deficiency 29.8 CAT MPO
7 leishmaniasis 29.8 IFNG IL1B TLR9
8 lung disease 29.6 CSF2 IL1B MPO TLR9
9 trichosporonosis 29.3 CSF2 CSF3 DECR1 IFNG
10 mcleod syndrome 11.9
11 granulomatous disease, chronic, x-linked 11.9
12 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type i 11.7
13 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 11.7
14 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii 11.6
15 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type ii 11.4
16 leukocyte adhesion deficiency, type iii 10.9
17 staphylococcal toxic shock syndrome 10.7 IFNG IL1B
18 autoimmune myocarditis 10.6 IFNG IL1B
19 urogenital tuberculosis 10.6 CAT NCF4
20 autoinflammation, lipodystrophy, and dermatosis syndrome 10.5 IFNG IL1B MPO
21 cyclic neutropenia 10.5 CSF2 CSF3 IFNG
22 coccidiosis 10.4 IFNG MT-CYB TLR9
23 monocytic leukemia 10.4 CSF2 IFNG IL1B
24 acquired immunodeficiency syndrome 10.4 CSF2 IFNG IL1B
25 engraftment syndrome 10.4 CSF2 CSF3
26 suppurative lymphadenitis 10.4 CYBB DECR1 IFNG
27 tonsillitis 10.3 IFNG IL1B TLR9
28 primary bacterial infectious disease 10.3 IFNG IL1B TLR9
29 toxoplasmosis 10.3 IFNG IL1B TLR9
30 bone inflammation disease 10.3 IFNG IL1B TLR9
31 hypersensitivity reaction disease 10.3 IFNG IL1B TLR9
32 aspergillosis 10.3
33 osteomyelitis 10.3
34 mouth disease 10.3 IFNG IL1B TLR9
35 chlamydia 10.2 IFNG IL1B RAC1
36 trypanosomiasis 10.2 IFNG IL1B TLR9
37 bronchial disease 10.2 CSF2 IL1B TLR9
38 inhalation anthrax 10.2 NCF4 TLR9
39 leukocyte disease 10.2 CSF2 CSF3 TLR9
40 hematopoietic stem cell transplantation 10.2
41 periodontitis 10.2 IFNG IL1B TLR9
42 hepatitis 10.2
43 lupus erythematosus 10.2
44 phagocyte bactericidal dysfunction 10.1 CYBA CYBB MT-CYB NCF1 NCF2 NCF4
45 discoid lupus erythematosus 10.1
46 intestinal disease 10.1 IFNG IL1B MPO TLR9
47 gastrointestinal system disease 10.1 IFNG IL1B MPO TLR9
48 invasive aspergillosis 10.1
49 crohn's disease 10.0
50 nervous system disease 10.0 CSF2 IFNG IL1B TLR9

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



Diseases related to Chronic Granulomatous Disease

Symptoms & Phenotypes for Chronic Granulomatous Disease

Human phenotypes related to Chronic Granulomatous Disease:

59 32 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gingivitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000230
2 sinusitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000246
3 otitis media 59 32 hallmark (90%) Very frequent (99-80%) HP:0000388
4 eczema 59 32 occasional (7.5%) Occasional (29-5%) HP:0000964
5 cutaneous photosensitivity 59 32 hallmark (90%) Very frequent (99-80%) HP:0000992
6 hypermelanotic macule 59 32 hallmark (90%) Very frequent (99-80%) HP:0001034
7 meningitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001287
8 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
9 abnormality of neutrophils 59 32 hallmark (90%) Very frequent (99-80%) HP:0001874
10 fever 59 32 hallmark (90%) Very frequent (99-80%) HP:0001945
11 pyloric stenosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002021
12 malabsorption 59 32 hallmark (90%) Very frequent (99-80%) HP:0002024
13 recurrent respiratory infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0002205
14 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
15 tracheoesophageal fistula 59 32 hallmark (90%) Very frequent (99-80%) HP:0002575
16 chronic obstructive pulmonary disease 59 32 hallmark (90%) Very frequent (99-80%) HP:0006510
17 liver abscess 59 32 occasional (7.5%) Occasional (29-5%) HP:0100523
18 inflammatory abnormality of the eye 59 32 occasional (7.5%) Occasional (29-5%) HP:0100533
19 mediastinal lymphadenopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0100721
20 sepsis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100806
21 skin ulcer 59 32 occasional (7.5%) Occasional (29-5%) HP:0200042
22 macule 59 Very frequent (99-80%)

MGI Mouse Phenotypes related to Chronic Granulomatous Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.02 CYBA CYBB IFNG IL1B MPO NCF1
2 cellular MP:0005384 10 CAT CLEC11A CSF2 CYBA CYBB IFNG
3 hematopoietic system MP:0005397 10 CLEC11A CSF2 CSF3 CYBA CYBB IFNG
4 homeostasis/metabolism MP:0005376 9.86 CAT CLEC11A CSF2 CYBA CYBB DECR1
5 immune system MP:0005387 9.44 CSF2 CSF3 CYBA CYBB IFNG IL1B

Drugs & Therapeutics for Chronic Granulomatous Disease

Drugs for Chronic Granulomatous Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 100)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
2
Nicotinamide Approved, Investigational, Nutraceutical Phase 4 98-92-0 936
3 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
4 Antiviral Agents Phase 4,Phase 2,Phase 1,Early Phase 1,Not Applicable
5 Interferon-gamma Phase 4,Phase 1
6 interferons Phase 4,Phase 1
7 Nicotinic Acids Phase 4
8 Vitamin B3 Nutraceutical Phase 4
9
alemtuzumab Approved, Investigational Phase 3,Phase 2,Early Phase 1,Not Applicable 216503-57-0
10
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2,Not Applicable,Early Phase 1 22916-47-8 4189
11
Posaconazole Approved, Investigational, Vet_approved Phase 3,Phase 2 171228-49-2 147912
12 Antifungal Agents Phase 3,Phase 2,Not Applicable,Early Phase 1
13 Antiparasitic Agents Phase 3,Phase 2
14 Antiprotozoal Agents Phase 3,Phase 2
15 Cytochrome P-450 Enzyme Inhibitors Phase 3,Phase 2
16 Hormone Antagonists Phase 3,Phase 2,Not Applicable
17 Hormones Phase 3,Phase 2,Not Applicable
18 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2,Not Applicable
19 Steroid Synthesis Inhibitors Phase 3,Phase 2
20
Busulfan Approved, Investigational Phase 1, Phase 2,Phase 2,Early Phase 1,Not Applicable 55-98-1 2478
21
Fludarabine Approved Phase 1, Phase 2,Phase 2,Not Applicable,Early Phase 1 21679-14-1, 75607-67-9 30751
22
Cyclophosphamide Approved, Investigational Phase 2,Phase 1,Early Phase 1,Not Applicable 50-18-0, 6055-19-2 2907
23
Itraconazole Approved, Investigational Phase 2 84625-61-6 55283
24
Melphalan Approved Phase 2,Not Applicable 148-82-3 4053 460612
25
Methylprednisolone Approved, Vet_approved Phase 2,Not Applicable 83-43-2 6741
26
Prednisolone Approved, Vet_approved Phase 2,Not Applicable 50-24-8 5755
27
Prednisone Approved, Vet_approved Phase 2,Not Applicable 53-03-2 5865
28
Pioglitazone Approved, Investigational Phase 1, Phase 2 111025-46-8 4829
29
Ibuprofen Approved Phase 2 15687-27-1 3672
30
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
31
Vidarabine Approved, Investigational Phase 2,Early Phase 1,Not Applicable 24356-66-9 32326 21704
32
Hydroxyurea Approved Phase 2 127-07-1 3657
33
Adalimumab Approved Phase 1, Phase 2 331731-18-1 16219006
34
Infliximab Approved Phase 1, Phase 2 170277-31-3
35 Alkylating Agents Phase 1, Phase 2,Phase 2,Early Phase 1,Not Applicable
36 Antineoplastic Agents, Alkylating Phase 1, Phase 2,Phase 2,Early Phase 1,Not Applicable
37 Immunosuppressive Agents Phase 1, Phase 2,Phase 2,Not Applicable,Early Phase 1
38 Cytochrome P-450 CYP3A Inhibitors Phase 2
39
Hydroxyitraconazole Phase 2
40 Cyclosporins Phase 2,Phase 1,Not Applicable
41 Methylprednisolone acetate Phase 2,Not Applicable
42 Methylprednisolone Hemisuccinate Phase 2,Not Applicable
43 Prednisolone acetate Phase 2,Not Applicable
44 Prednisolone hemisuccinate Phase 2,Not Applicable
45 Prednisolone phosphate Phase 2,Not Applicable
46 Antirheumatic Agents Phase 2,Phase 1,Not Applicable,Early Phase 1
47 Antimetabolites Phase 2,Not Applicable,Early Phase 1
48 Antimetabolites, Antineoplastic Phase 2,Not Applicable,Early Phase 1
49 Calcineurin Inhibitors Phase 2,Not Applicable
50 Dermatologic Agents Phase 2,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 66)
# Name Status NCT ID Phase Drugs
1 A Phase IV Study of Recombinant Human Gamma Interferon in Patients With Chronic Granulomatous Diseases of Childhood Completed NCT00001317 Phase 4 interferon-gamma
2 Biochemical Response to Interferon-Gamma in Subjects With Specific Gene Mutation in Chronic Granulomatous Disease Terminated NCT01147042 Phase 4 IFN-gamma
3 Treatment of Chronic Granulomatous Disease With Allogeneic Stem Cell Transplantation Versus Standard of Care Completed NCT00023192 Phase 3 T-Cell Depleted & CD34+Select/w/StemCell Enriched Product
4 Posaconazole to Treat Invasive Fungal Infections Completed NCT00033982 Phase 3 Posaconazole
5 Gene Therapy for Chronic Granulomatous Disease Unknown status NCT00564759 Phase 1, Phase 2 retroviral SF71-gp91phox transduced CD34+ cells
6 Targeted Busulfan, Fludarabine Conditioning Regimen for Hematopoietic Stem Cell Transplantation in Chronic Granulomatous Disease(CGD) Unknown status NCT01338675 Phase 1, Phase 2 Busulfan
7 Gene Therapy for X-linked Chronic Granulomatous Disease (CGD) in Children Completed NCT00927134 Phase 1, Phase 2
8 Modified Stem Cell Transplantation Procedure for Treating Chronic Granulomatous Disease Completed NCT00006417 Phase 2
9 Pharmacokinetics of Posaconazole in Children With Chronic Granulomatous Disease (CGD) Completed NCT00799071 Phase 2 posaconazole (PSZ)
10 Itraconazole for the Prevention of Fungal Infections in Chronic Granulomatous Disease Completed NCT00001280 Phase 2 itraconazole
11 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
12 Reduced Intensity Conditioning for Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (BMT CTN 1204) Completed NCT01998633 Phase 2
13 Pioglitazone Therapy for Chronic Granulomatous Disease Recruiting NCT03080480 Phase 1, Phase 2 Pioglitazone
14 Gene Therapy for X-linked Chronic Granulomatous Disease Recruiting NCT02757911 Phase 1, Phase 2
15 Study of Gene Therapy Using a Lentiviral Vector to Treat X-linked Chronic Granulomatous Disease Recruiting NCT02234934 Phase 1, Phase 2
16 Gene Therapy for X-linked Chronic Granulomatous Disease (X-CGD) Recruiting NCT01855685 Phase 1, Phase 2
17 Plerixafor/G-CSF as Additional Agents for Conditioning Before HSCT in CGD Patients Recruiting NCT03547830 Phase 2 Plerixafor;Gcsf
18 Gene Therapy for X-CGD Recruiting NCT01906541 Phase 1, Phase 2
19 Combination of Ibuprofen, G-CSF and Plerixafor as Stem Cells Mobilization Regimen in Patients Affected by X-CGD Recruiting NCT03055247 Phase 2 Ibuprofen;Myelostim;Mozobil
20 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
21 Busulfan, Fludarabine, and Thiotepa Conditioning Regimen for Non Malignant Disease Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
22 Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer Recruiting NCT03333486 Phase 2 Cyclophosphamide;Fludarabine Phosphate
23 Alpha/Beta T and CD19+ Depleted Peripheral Stem Cells for Patients With Primary Immunodeficiencies Recruiting NCT02990819 Phase 2
24 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
25 Bilateral Orthotopic Lung Transplant - Bone Marrow Transplant Recruiting NCT03330795 Phase 1, Phase 2
26 Gene Therapy for Chronic Granulomatous Disease in Korea Active, not recruiting NCT00778882 Phase 1, Phase 2 VM106
27 Matched Unrelated or Non-Genotype Identical Related Donor Transplantation For Chronic Granulomatous Disease Active, not recruiting NCT00578643 Phase 2 Busulfan;Cyclophosphamide;Fludarabine;Cyclosporine
28 Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases Enrolling by invitation NCT01852370 Phase 1, Phase 2
29 Infliximab to Treat Crohn'S-like Inflammatory Bowel Disease in Chronic Granulomatous Disease Terminated NCT00325078 Phase 1, Phase 2 Infliximab
30 Related Hematopoietic Stem Cell Transplantation (HSCT) for Genetic Diseases of Blood Cells Terminated NCT02512679 Phase 2 Cyclophosphamide Dose Level 1;Cyclophosphamide Dose Level 2;Cyclophosphamide Dose Level 3;Cyclophosphamide Dose Level 4
31 Lentiviral Gene Therapy for X-Linked Chronic Granulomatous Disease (X-CGD) Withdrawn NCT01381003 Phase 1, Phase 2
32 Stem Cell Transplant Following Low-Intensity Chemotherapy to Treat Chronic Granulomatous Disease Completed NCT00001765 Phase 1
33 Gene Therapy for Chronic Granulomatous Diseases - Long-term Follow-up Completed NCT00001476 Phase 1 Gene Therapy Method for CGD
34 Use of Busulfan as Conditioning Agent for a Second Stem Cell Transplant Completed NCT00092937 Phase 1 Busulfan
35 Adjuvant Cytokine Therapy to Treat Pulmonary Mycobacterium Avium Complex Infection Completed NCT00111397 Phase 1 Interferon Gamma, GM-CSF
36 Diagnostic Effectiveness of Virtual Bronchoscopy Completed NCT00001515 Phase 1
37 Radiofrequency Ablation for Liver Abscesses From Chronic Granulomatous Disease Recruiting NCT01851460 Phase 1
38 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1 Abatacept
39 Effect of IFN-γ on Innate Immune Cells Active, not recruiting NCT02609932 Phase 1 Administration of drug (Interferon-gamma 1-b) subcutaneously
40 Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases Terminated NCT02231710 Phase 1
41 Chronic Granulomatous Disease Study in China Unknown status NCT02231996
42 Evaluating the Transition From Pediatric to Adult Care Among Adolescents With Chronic Granulomatous Disease Completed NCT02233036
43 Learning and Behavior Problems in Children With Chronic Granulomatous Disease and Related Disorders Completed NCT00005933
44 Study of Gut Microbiota in Primary Immune Deficiency, Possibly Associated With Inflammatory Bowel Disease Completed NCT02909244
45 Study of Total Body Irradiation and Fludarabine Followed By Allogeneic Peripheral Blood Stem Cell or Bone Marrow Transplantation in Combination With Cyclosporine and Mycophenolate Mofetil in Patients With Inherited Disorders Completed NCT00010361 Not Applicable cyclosporine;fludarabine;mycophenolate mofetil
46 Genetic Disorders of Mucociliary Clearance in Nontuberculous Mycobacterial Lung Disease Completed NCT00368446
47 Role of Interferon-gamma 1-b (IFN-γ) on Cells of the Innate Immune System: Functional, Biochemical and Gene Expression Studies in Patients With Chronic Granulomatous Disease Recruiting NCT03548818 Interferon Gamma-1B
48 Analysis of Patients Treated for Chronic Granulomatous Disease Since January 1, 1995 Recruiting NCT02116764
49 Patients Treated for Chronic Granulomatous Disease (CGD) Since 1995 Recruiting NCT02082353
50 High Dose Peripheral Blood Stem Cell Transplantation With Post Transplant Cyclophosphamide for Patients With Chronic Granulomatous Disease Recruiting NCT02629120 Early Phase 1 Campath;Busulfan;cyclophosphamide

Search NIH Clinical Center for Chronic Granulomatous Disease

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
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) PMIDs: 10430905

Cochrane evidence based reviews: granulomatous disease, chronic

Genetic Tests for Chronic Granulomatous Disease

Genetic tests related to Chronic Granulomatous Disease:

# Genetic test Affiliating Genes
1 Chronic Granulomatous Disease 29

Anatomical Context for Chronic Granulomatous Disease

MalaCards organs/tissues related to Chronic Granulomatous Disease:

41
Bone, Neutrophil, Lung, Skin, Bone Marrow, Liver, T Cells

Publications for Chronic Granulomatous Disease

Articles related to Chronic Granulomatous Disease:

(show top 50) (show all 923)
# Title Authors Year
1
Characterization of 4 New Mutations in the CYBB Gene in 10 Iranian Families With X-linked Chronic Granulomatous Disease. ( 29702544 )
2018
2
Hypersensitive Pneumonitis: an Initial Presentation of Chronic Granulomatous Disease in a Child. ( 29302845 )
2018
3
When Antimicrobial Therapy Is Not Enough: Respiratory Failure in a Patient with Chronic Granulomatous Disease. ( 29714104 )
2018
4
Chronic Granulomatous Disease First Diagnosed in Adulthood Presenting With Spinal Cord Infection. ( 29915596 )
2018
5
Haploidentical stem cell transplantation in a boy with chronic granulomatous disease. ( 29373243 )
2018
6
Considerations in the Diagnosis of Chronic Granulomatous Disease. ( 29746674 )
2018
7
A prospective study of allogeneic transplantation from unrelated donors for chronic granulomatous disease with target busulfan-based reduced-intensity conditioning. ( 29959437 )
2018
8
Allogeneic Hematopoietic Cell Transplantation for Chronic Granulomatous Disease: Controversies and State of the Art. ( 29746680 )
2018
9
Inherited p40phox deficiency differs from classic chronic granulomatous disease. ( 29969437 )
2018
10
Analysis of Chronic Granulomatous Disease in the Kavkazi Population in Israel Reveals Phenotypic Heterogeneity in Patients with the Same NCF1 mutation (c.579G&amp;gt;A). ( 29411231 )
2018
11
Future of Care for Patients With Chronic Granulomatous Disease: Gene Therapy and Targeted Molecular Medicine. ( 29746676 )
2018
12
Noninfectious Manifestations and Complications of Chronic Granulomatous Disease. ( 29746679 )
2018
13
Male X-chromosome mosaicism leading to carrier phenotype and inheritance of chronic granulomatous disease. ( 29410207 )
2018
14
Non-Clinical Efficacy and Safety Studies on G1XCGD, a Lentiviral Vector for Ex Vivo Gene Therapy of X-Linked Chronic Granulomatous Disease. ( 29664709 )
2018
15
Correlation between flow cytometry and molecular findings in autosomal recessive chronic granulomatous disease: A cohort study from Oman. ( 29947158 )
2018
16
Successful transcatheter arterial antimicrobial and steroid therapy for refractory liver abscess in chronic granulomatous disease: A case report and review of literature. ( 29132925 )
2018
17
Correction to: Raised Serum IL-8 Levels Are Associated with Excessive Fatigue in Female Carriers of X-Linked Chronic Granulomatous Disease in the UK. ( 29744786 )
2018
18
Francisella philomiragia: Think of Chronic Granulomatous Disease. ( 29663155 )
2018
19
Severe Multisystem Involvement of Chronic Granulomatous Disease in a Pediatric Patient. ( 29741690 )
2018
20
Comment on: Phenotypic Prenatal Diagnosis of Chronic Granulomatous Disease: A Useful Tool in the Absence of Molecular Diagnosis. ( 29119580 )
2018
21
Renal Disease in Chronic Granulomatous Disease: Data from the USIDNET Registry. ( 29978272 )
2018
22
Prevention of Infectious Complications in Patients With Chronic Granulomatous Disease. ( 29746681 )
2018
23
<i>Salmonella</i> Enteritidis cholecystitis with chronic granulomatous disease. ( 29942748 )
2018
24
New onset colitis in an adult patient with chronic granulomatous disease treated with hematopoietic stem cell transplantation: a diagnostic dilemma. ( 29755533 )
2018
25
Long-term observational studies of chronic granulomatous disease. ( 29135572 )
2018
26
Infectious Complications in Patients With Chronic Granulomatous Disease. ( 29746678 )
2018
27
Chronic Granulomatous Disease: Epidemiology, Pathophysiology, and Genetic Basis of Disease. ( 29746675 )
2018
28
Successful hepatectomy for hepatic abscess with chronic granulomatous disease: a case report. ( 28447322 )
2017
29
Allogeneic Reduced-Intensity Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease: a Single-Center Prospective Trial. ( 28752258 )
2017
30
The Changing Paradigm of Management of Liver Abscesses in Chronic Granulomatous Disease. ( 29145578 )
2017
31
Treatment of chronic granulomatous disease-associated fistulising colitis with vedolizumab. ( 28919373 )
2017
32
Fulminant Sepsis Due to Granulibacter bethesdensis in a 4-Year-Old Boy with X-Linked Chronic Granulomatous Disease. ( 28650935 )
2017
33
Multiple Brain Abscesses Caused by Trichosporon inkin in a Patient with X-Linked Chronic Granulomatous Disease (CGD) Successfully Treated with Antifungal Therapy. ( 28698914 )
2017
34
Three novel mutations in CYBA among 22 Iranians with Chronic granulomatous disease. ( 28941186 )
2017
35
X-linked Carriers of Chronic Granulomatous Disease: Illness, Lyonization and Stability. ( 28528201 )
2017
36
Therapeutic effects of proteoliposomes on X-linked chronic granulomatous disease: proof of concept using macrophages differentiated from patient-specific induced pluripotent stem cells. ( 28356734 )
2017
37
Nine patients with chronic granulomatous disease having selective neck dissection for severe cervical lymphadenitis. ( 28727298 )
2017
38
Differential diagnosis in ulcerative colitis in an adolescent: Chronic granulomatous disease needs extra attention. ( 28573071 )
2017
39
Gene-edited pseudogene resurrection corrects p47<sup>phox</sup>-deficient chronic granulomatous disease. ( 29296942 )
2017
40
Chronic granulomatous disease as a risk factor for cutaneous lupus in childhood. ( 28329526 )
2017
41
Phenotypic Prenatal Diagnosis of Chronic Granulomatous Disease: A Useful Tool in The Absence Of Molecular Diagnosis. ( 29063637 )
2017
42
Pyoderma gangrenosum in a patient with chronic granulomatous disease: A case report. ( 28767612 )
2017
43
Mastoidectomy in a child with chronic granulomatous disease. ( 29019728 )
2017
44
Fecal Calprotectin Rise in Chronic Granulomatous Disease-Associated Colitis. ( 28879453 )
2017
45
Chronic Granulomatous Disease Presenting as Aspergillus Fumigatus Pneumonia in a Previously Healthy Young Woman. ( 28377567 )
2017
46
Infection Profile in Chronic Granulomatous Disease: a 23-Year Experience from a Tertiary Care Center in North India. ( 28332028 )
2017
47
CRISPR/Cas9-generated p47(phox)-deficient cell line for Chronic Granulomatous Disease gene therapy vector development. ( 28287132 )
2017
48
Tuberculosis masked by immunodeficiency: a review of two cases diagnosed with chronic granulomatous disease. ( 28621249 )
2017
49
Inflammatory and autoimmune manifestations in X-linked carriers of chronic granulomatous disease in the United Kingdom. ( 28343844 )
2017
50
A Review of Chronic Granulomatous Disease. ( 29168144 )
2017

Variations for Chronic Granulomatous Disease

ClinVar genetic disease variations for Chronic Granulomatous Disease:

6
(show top 50) (show all 148)
# Gene Variation Type Significance SNP ID Assembly Location
1 CYBA NM_000101.3(CYBA): c.467C> A (p.Pro156Gln) single nucleotide variant Pathogenic rs104894515 GRCh37 Chromosome 16, 88709882: 88709882
2 CYBA NM_000101.3(CYBA): c.467C> A (p.Pro156Gln) single nucleotide variant Pathogenic rs104894515 GRCh38 Chromosome 16, 88643474: 88643474
3 CYBB NM_000397.3(CYBB): c.1244C> A (p.Pro415His) single nucleotide variant Pathogenic rs137854585 GRCh37 Chromosome X, 37664351: 37664351
4 CYBB NM_000397.3(CYBB): c.1244C> A (p.Pro415His) single nucleotide variant Pathogenic rs137854585 GRCh38 Chromosome X, 37805098: 37805098
5 CYBB NM_000397.3(CYBB): c.1166G> C (p.Gly389Ala) single nucleotide variant Pathogenic rs137854586 GRCh37 Chromosome X, 37664273: 37664273
6 CYBB NM_000397.3(CYBB): c.1166G> C (p.Gly389Ala) single nucleotide variant Pathogenic rs137854586 GRCh38 Chromosome X, 37805020: 37805020
7 CYBB NM_000397.3(CYBB): c.731G> C (p.Cys244Ser) single nucleotide variant Pathogenic rs137854589 GRCh37 Chromosome X, 37658264: 37658264
8 CYBB NM_000397.3(CYBB): c.731G> C (p.Cys244Ser) single nucleotide variant Pathogenic rs137854589 GRCh38 Chromosome X, 37799011: 37799011
9 CYBB NM_000397.3(CYBB): c.466G> A (p.Ala156Thr) single nucleotide variant Pathogenic rs137854590 GRCh37 Chromosome X, 37653046: 37653046
10 CYBB NM_000397.3(CYBB): c.466G> A (p.Ala156Thr) single nucleotide variant Pathogenic rs137854590 GRCh38 Chromosome X, 37793793: 37793793
11 CYBB NM_000397.3(CYBB): c.302A> G (p.His101Arg) single nucleotide variant Pathogenic rs137854591 GRCh37 Chromosome X, 37651277: 37651277
12 CYBB NM_000397.3(CYBB): c.302A> G (p.His101Arg) single nucleotide variant Pathogenic rs137854591 GRCh38 Chromosome X, 37792024: 37792024
13 CYBB NM_000397.3(CYBB): c.301C> T (p.His101Tyr) single nucleotide variant Pathogenic rs137854594 GRCh37 Chromosome X, 37651276: 37651276
14 CYBB NM_000397.3(CYBB): c.301C> T (p.His101Tyr) single nucleotide variant Pathogenic rs137854594 GRCh38 Chromosome X, 37792023: 37792023
15 CYBB NM_000397.3(CYBB): c.907C> A (p.His303Asn) single nucleotide variant Pathogenic rs137854595 GRCh37 Chromosome X, 37663139: 37663139
16 CYBB NM_000397.3(CYBB): c.907C> A (p.His303Asn) single nucleotide variant Pathogenic rs137854595 GRCh38 Chromosome X, 37803886: 37803886
17 CYBB NM_000397.3(CYBB): c.692A> C (p.Gln231Pro) single nucleotide variant Pathogenic rs151344498 GRCh37 Chromosome X, 37658225: 37658225
18 CYBB NM_000397.3(CYBB): c.692A> C (p.Gln231Pro) single nucleotide variant Pathogenic rs151344498 GRCh38 Chromosome X, 37798972: 37798972
19 CYBB NM_000397.3(CYBB): c.532A> C (p.Thr178Pro) single nucleotide variant Pathogenic rs151344497 GRCh37 Chromosome X, 37655252: 37655252
20 CYBB NM_000397.3(CYBB): c.532A> C (p.Thr178Pro) single nucleotide variant Pathogenic rs151344497 GRCh38 Chromosome X, 37795999: 37795999
21 NCF4 NM_013416.3(NCF4): c.314G> A (p.Arg105Gln) single nucleotide variant Pathogenic rs387906808 GRCh37 Chromosome 22, 37263476: 37263476
22 NCF4 NM_013416.3(NCF4): c.314G> A (p.Arg105Gln) single nucleotide variant Pathogenic rs387906808 GRCh38 Chromosome 22, 36867434: 36867434
23 NCF2 NM_000433.3(NCF2): c.606G> A (p.Ala202=) single nucleotide variant Benign/Likely benign rs17849501 GRCh37 Chromosome 1, 183542323: 183542323
24 NCF2 NM_000433.3(NCF2): c.606G> A (p.Ala202=) single nucleotide variant Benign/Likely benign rs17849501 GRCh38 Chromosome 1, 183573188: 183573188
25 NCF4 NM_013416.3(NCF4): c.143_152dupAAGGAGGATC (p.Lys52Argfs) duplication Pathogenic rs869025585 GRCh37 Chromosome 22, 37260986: 37260995
26 NCF4 NM_013416.3(NCF4): c.143_152dupAAGGAGGATC (p.Lys52Argfs) duplication Pathogenic rs869025585 GRCh38 Chromosome 22, 36864944: 36864953
27 NCF2 NM_000433.3(NCF2): c.1167C> A (p.His389Gln) single nucleotide variant Benign/Likely benign rs17849502 GRCh37 Chromosome 1, 183532580: 183532580
28 NCF2 NM_000433.3(NCF2): c.1167C> A (p.His389Gln) single nucleotide variant Benign/Likely benign rs17849502 GRCh38 Chromosome 1, 183563445: 183563445
29 NCF2 NM_000433.3(NCF2): c.1001-10T> G single nucleotide variant Conflicting interpretations of pathogenicity rs36113295 GRCh37 Chromosome 1, 183533175: 183533175
30 NCF2 NM_000433.3(NCF2): c.1001-10T> G single nucleotide variant Conflicting interpretations of pathogenicity rs36113295 GRCh38 Chromosome 1, 183564040: 183564040
31 NCF2 NM_000433.3(NCF2): c.542A> G (p.Lys181Arg) single nucleotide variant Benign rs2274064 GRCh37 Chromosome 1, 183542387: 183542387
32 NCF2 NM_000433.3(NCF2): c.542A> G (p.Lys181Arg) single nucleotide variant Benign rs2274064 GRCh38 Chromosome 1, 183573252: 183573252
33 NCF4 NM_013416.3(NCF4): c.69G> A (p.Ser23=) single nucleotide variant Benign/Likely benign rs10854695 GRCh37 Chromosome 22, 37260123: 37260123
34 NCF4 NM_013416.3(NCF4): c.69G> A (p.Ser23=) single nucleotide variant Benign/Likely benign rs10854695 GRCh38 Chromosome 22, 36864081: 36864081
35 NCF4 NM_013416.3(NCF4): c.628-14C> A single nucleotide variant Uncertain significance rs56071149 GRCh37 Chromosome 22, 37271681: 37271681
36 NCF4 NM_013416.3(NCF4): c.628-14C> A single nucleotide variant Uncertain significance rs56071149 GRCh38 Chromosome 22, 36875639: 36875639
37 NCF4 NM_013416.3(NCF4): c.735C> T (p.Tyr245=) single nucleotide variant Benign/Likely benign rs2072712 GRCh38 Chromosome 22, 36875760: 36875760
38 NCF4 NM_013416.3(NCF4): c.735C> T (p.Tyr245=) single nucleotide variant Benign/Likely benign rs2072712 GRCh37 Chromosome 22, 37271802: 37271802
39 NCF4 NM_013416.3(NCF4): c.815T> C (p.Leu272Pro) single nucleotide variant Benign rs2075939 GRCh38 Chromosome 22, 36875840: 36875840
40 NCF4 NM_013416.3(NCF4): c.815T> C (p.Leu272Pro) single nucleotide variant Benign rs2075939 GRCh37 Chromosome 22, 37271882: 37271882
41 NCF4 NM_013416.3(NCF4): c.*95G> A single nucleotide variant Benign rs11552115 GRCh38 Chromosome 22, 36877700: 36877700
42 NCF4 NM_013416.3(NCF4): c.*95G> A single nucleotide variant Benign rs11552115 GRCh37 Chromosome 22, 37273742: 37273742
43 NCF2 NM_000433.3(NCF2): c.*517dupT duplication Uncertain significance rs573207861 GRCh37 Chromosome 1, 183524736: 183524736
44 NCF2 NM_000433.3(NCF2): c.*517dupT duplication Uncertain significance rs573207861 GRCh38 Chromosome 1, 183555601: 183555601
45 NCF2 NM_000433.3(NCF2): c.*508_*512dupGGTTA duplication Uncertain significance rs555649211 GRCh38 Chromosome 1, 183555606: 183555610
46 NCF2 NM_000433.3(NCF2): c.*508_*512dupGGTTA duplication Uncertain significance rs555649211 GRCh37 Chromosome 1, 183524741: 183524745
47 NCF2 NM_000433.3(NCF2): c.*510T> A single nucleotide variant Uncertain significance rs886045646 GRCh37 Chromosome 1, 183524743: 183524743
48 NCF2 NM_000433.3(NCF2): c.*510T> A single nucleotide variant Uncertain significance rs886045646 GRCh38 Chromosome 1, 183555608: 183555608
49 NCF2 NM_000433.3(NCF2): c.*398G> T single nucleotide variant Benign rs796860 GRCh37 Chromosome 1, 183524855: 183524855
50 NCF2 NM_000433.3(NCF2): c.*398G> T single nucleotide variant Benign rs796860 GRCh38 Chromosome 1, 183555720: 183555720

Copy number variations for Chronic Granulomatous Disease from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 227905 7 72200000 77500000 Copy number NCF1 Chronic granulomatous disease
2 262229 X 32167387 37878805 Deletion CYBB Chronic granulomatous disease
3 262230 X 32167387 37878805 Deletion DMD Chronic granulomatous disease
4 262231 X 32167387 37878805 Deletion DYNLT3 Chronic granulomatous disease
5 262232 X 32167387 37878805 Deletion XK Chronic granulomatous disease

Expression for Chronic Granulomatous Disease

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

Pathways for Chronic Granulomatous Disease

Pathways related to Chronic Granulomatous Disease according to KEGG:

37
# Name Kegg Source Accession
1 Fc gamma R-mediated phagocytosis hsa04666

Pathways related to Chronic Granulomatous Disease according to GeneCards Suite gene sharing:

(show all 44)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14 CAT CSF2 CSF3 CYBA CYBB IFNG
2
Show member pathways
13.38 CYBA CYBB NCF1 NCF2 NCF4 NOX1
3
Show member pathways
13.38 CLEC11A CSF2 CSF3 IL1B NCF1 RAC1
4
Show member pathways
13.24 CLEC11A CSF2 CSF3 CYBB IL1B NCF1
5
Show member pathways
13.1 CAT CYBA CYBB NCF1 NCF2 NCF4
6
Show member pathways
12.99 CYBA CYBB NCF1 NCF2 NCF4 NOX1
7
Show member pathways
12.98 CYBA CYBB IFNG IL1B RAC1 TLR9
8
Show member pathways
12.62 CYBA CYBB NCF1 NCF2 NCF4 RAC1
9
Show member pathways
12.59 CSF2 CSF3 IFNG IL1B
10 12.56 IFNG IL1B MPO NCF1 NCF4 TLR9
11
Show member pathways
12.47 CSF2 IFNG RAC1 RAC2
12
Show member pathways
12.46 CYBA CYBB NCF1 NCF2 NCF4
13
Show member pathways
12.46 CYBA CYBB NCF1 NCF2 NCF4 RAC1
14
Show member pathways
12.33 CYBA CYBB NCF1 NCF2 RAC1 RAC2
15
Show member pathways
12.3 CAT IFNG IL1B MPO
16
Show member pathways
12.3 CSF2 CSF3 IFNG IL1B
17
Show member pathways
12.23 CYBA CYBB NCF1 NCF2 NOX1 RAC1
18
Show member pathways
12.22 CYBA CYBB IFNG IL1B NCF1 NCF2
19 12.05 CYBA CYBB MPO NCF1 NCF2 NCF4
20 11.98 CSF2 CSF3 IFNG MPO
21 11.9 CYBB IL1B NOX1 RAC1
22 11.9 CYBA IFNG IL1B NCF1 NCF2 NOX1
23 11.85 CSF2 CSF3 IL1B
24 11.84 CSF2 IFNG IL1B
25 11.82 CSF2 IFNG IL1B RAC1
26 11.81 NCF1 RAC1 RAC2
27 11.81 CSF2 IFNG IL1B
28
Show member pathways
11.81 CYBA CYBB NCF1 NCF2 NCF4 RAC2
29 11.77 RAC1 RAC2 TLR9
30 11.75 CSF2 IFNG IL1B TLR9
31 11.67 CYBA IFNG IL1B NCF1 NCF2 NCF4
32 11.63 CSF2 CSF3 IL1B
33
Show member pathways
11.63 CSF2 IFNG IL1B
34 11.54 CSF3 IFNG IL1B TLR9
35 11.51 CSF2 CSF3 IL1B
36 11.49 CSF2 CSF3 IL1B
37
Show member pathways
11.47 CAT CYBA CYBB NCF1 NCF2 NCF4
38 11.37 CYBB IFNG IL1B
39 11.34 IFNG IL1B TLR9
40 11.34 CYBA CYBB NCF1 NCF2 RAC2
41 11.26 CSF2 CSF3 IFNG IL1B
42 11.15 CYBA NCF4 RAC2
43 10.89 IL1B MPO
44 10.34 CYBA CYBB NCF1 NCF2 NCF4 NOX1

GO Terms for Chronic Granulomatous Disease

Cellular components related to Chronic Granulomatous Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.86 CAT CLEC11A CSF2 CSF3 IFNG IL1B
2 secretory granule GO:0030141 9.54 CYBA IL1B MPO
3 phagocytic vesicle membrane GO:0030670 9.33 CYBA CYBB RAC2
4 NADPH oxidase complex GO:0043020 9.17 CYBA CYBB NCF1 NCF1C NCF2 NCF4
5 phagolysosome GO:0032010 9.13 NCF1 NCF2 NCF4
6 cytoplasm GO:0005737 10.17 CAT CLEC11A CYBA CYBB IL1B MPO

Biological processes related to Chronic Granulomatous Disease according to GeneCards Suite gene sharing:

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.97 CYBA CYBB IL1B NOX1 RAC1 TLR9
2 oxidation-reduction process GO:0055114 9.9 CAT CYBA CYBB DECR1 MPO MT-CYB
3 cellular response to oxidative stress GO:0034599 9.85 CAT CYBA CYBB NCF1 NCF2 NCF4
4 positive regulation of catalytic activity GO:0043085 9.83 NCF1C NCF2 NCF4
5 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.83 CYBA CYBB NCF1 NCF2 NCF4
6 cellular response to mechanical stimulus GO:0071260 9.81 CYBA IL1B RAC1
7 electron transport chain GO:0022900 9.81 CYBA CYBB NCF1 NCF2
8 cell redox homeostasis GO:0045454 9.8 CYBA CYBB NCF1 NCF2 NCF4
9 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.8 CYBA CYBB NCF1 NCF2 NCF4 RAC1
10 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.79 CAT CSF3 NCF1
11 positive regulation of JNK cascade GO:0046330 9.78 IL1B NCF1 NOX1 TLR9
12 positive regulation of actin filament polymerization GO:0030838 9.77 CSF3 RAC1 RAC2
13 positive regulation of interleukin-6 production GO:0032755 9.77 CYBA IL1B TLR9
14 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.66 IFNG IL1B
15 response to hyperoxia GO:0055093 9.65 CAT MT-CYB
16 superoxide metabolic process GO:0006801 9.65 CYBA CYBB NCF1 NCF1C NCF2
17 positive regulation of granulocyte macrophage colony-stimulating factor production GO:0032725 9.64 IL1B TLR9
18 engulfment of apoptotic cell GO:0043652 9.63 RAC1 RAC2
19 podosome assembly GO:0071800 9.62 NCF1 NCF1C
20 hydrogen peroxide biosynthetic process GO:0050665 9.61 CYBA CYBB
21 regulation of hydrogen peroxide metabolic process GO:0010310 9.58 RAC1 RAC2
22 positive regulation of interleukin-23 production GO:0032747 9.58 CSF2 IFNG
23 response to aldosterone GO:1904044 9.57 CYBA CYBB
24 regulation of respiratory burst GO:0060263 9.56 RAC1 RAC2
25 neutrophil differentiation GO:0030223 9.55 CSF2 CSF3
26 cellular response to L-glutamine GO:1904845 9.54 CYBA CYBB
27 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.52 IFNG IL1B
28 superoxide anion generation GO:0042554 9.35 CYBA CYBB NCF1 NCF2 NOX1
29 respiratory burst GO:0045730 9.17 CYBA CYBB NCF1 NCF1C NCF2 NCF4
30 innate immune response GO:0045087 10.06 CYBA CYBB NCF1 NCF2 TLR9
31 immune response GO:0006955 10.04 CSF2 CSF3 IFNG IL1B NCF4
32 neutrophil degranulation GO:0043312 10.03 CAT CYBA CYBB MPO RAC1
33 regulation of signaling receptor activity GO:0010469 10.01 CLEC11A CSF2 CSF3 IFNG IL1B
34 positive regulation of cell proliferation GO:0008284 10 CLEC11A CSF2 CSF3 IFNG IL1B NOX1

Molecular functions related to Chronic Granulomatous Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.8 CAT CYBA CYBB DECR1 MPO MT-CYB
2 cytokine activity GO:0005125 9.67 CSF2 CSF3 IFNG IL1B
3 heme binding GO:0020037 9.62 CAT CYBA CYBB MPO
4 phosphatidylinositol binding GO:0035091 9.58 NCF1 NCF1C NCF4
5 electron transfer activity GO:0009055 9.55 CYBA CYBB MT-CYB NCF1 NCF2
6 interleukin-1 receptor binding GO:0005149 9.43 IL1B TLR9
7 superoxide-generating NADPH oxidase activator activity GO:0016176 9.26 NCF1 NCF1C NCF2 NCF4
8 superoxide-generating NADPH oxidase activity GO:0016175 9.1 CYBA CYBB NCF1 NCF1C NCF2 NOX1

Sources for Chronic Granulomatous Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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