CGD
MCID: CHR012
MIFTS: 69

Chronic Granulomatous Disease (CGD)

Categories: Blood diseases, Bone diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases, Respiratory diseases, Skin 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 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
SNOMED-CT 68 11210002
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 granulomatous disease, chronic, x-linked and granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type ii. 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 Signaling by GPCR. The drugs Nicotinamide and Niacin have been mentioned in the context of this disorder. Affiliated tissues include bone, neutrophil and bone marrow, and related phenotypes are splenomegaly and recurrent respiratory infections

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 174)
# Related Disease Score Top Affiliating Genes
1 granulomatous disease, chronic, x-linked 33.3 CYBA CYBB KEL MT-CYB NCF1 NCF2
2 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type ii 33.0 CYBA CYBB DECR1 NCF1 NCF2
3 aspergillosis 30.8 CSF2 IFNG TLR9
4 mucormycosis 29.8 CSF2 IFNG
5 cellulitis 29.8 CYBA CYBB NCF1 NCF2
6 myeloperoxidase deficiency 29.7 CAT MPO
7 trichosporonosis 29.6 CSF2 DECR1 IFNG
8 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type i 12.2
9 mcleod syndrome 12.1
10 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 12.0
11 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii 12.0
12 granulomatous disease, chronic, autosomal dominant type 11.7
13 peroxisome biogenesis disorder 8a 11.6
14 46 xy gonadal dysgenesis 11.2
15 peroxisome biogenesis disorder 8b 11.0
16 leukocyte adhesion deficiency, type iii 11.0
17 osteomyelitis 10.4
18 colitis 10.4
19 hematopoietic stem cell transplantation 10.4
20 lupus erythematosus 10.3
21 pneumonia 10.3
22 invasive aspergillosis 10.3
23 discoid lupus erythematosus 10.2
24 large granular lymphocyte leukemia 10.2 CSF2 IFNG
25 crohn's disease 10.2
26 urogenital tuberculosis 10.2 CAT NCF4
27 nocardiosis 10.1
28 inhalation anthrax 10.1 NCF4 TLR9
29 coccidiosis 10.1 IFNG MT-CYB TLR9
30 inflammatory bowel disease 10.1
31 lymphadenitis 10.1
32 suppurative lymphadenitis 10.0 CYBB DECR1 IFNG
33 kawasaki disease 10.0
34 hemophagocytic lymphohistiocytosis 10.0
35 ulcerative colitis 10.0
36 immunoglobulin alpha deficiency 10.0
37 bacterial infectious disease 10.0 CSF2 IFNG TLR9
38 respiratory system disease 10.0 CSF2 IFNG MPO TLR9
39 vascular disease 10.0 CAT CYBB MPO NOX1
40 pityriasis versicolor 10.0 CAT TLR9
41 gout 10.0
42 acatalasemia 10.0 CAT DECR1 MT-CYB
43 williams-beuren syndrome 10.0
44 neutrophilic dermatosis, acute febrile 10.0
45 arthritis 10.0
46 thrombocytopenia 10.0
47 epidural abscess 10.0
48 cystitis 10.0
49 pericarditis 10.0
50 cholecystitis 10.0

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 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
2 recurrent respiratory infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0002205
3 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
4 malabsorption 59 32 hallmark (90%) Very frequent (99-80%) HP:0002024
5 fever 59 32 hallmark (90%) Very frequent (99-80%) HP:0001945
6 sinusitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000246
7 skin ulcer 59 32 occasional (7.5%) Occasional (29-5%) HP:0200042
8 chronic obstructive pulmonary disease 59 32 hallmark (90%) Very frequent (99-80%) HP:0006510
9 gingivitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000230
10 otitis media 59 32 hallmark (90%) Very frequent (99-80%) HP:0000388
11 meningitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001287
12 sepsis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100806
13 eczema 59 32 occasional (7.5%) Occasional (29-5%) HP:0000964
14 tracheoesophageal fistula 59 32 hallmark (90%) Very frequent (99-80%) HP:0002575
15 pyloric stenosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002021
16 cutaneous photosensitivity 59 32 hallmark (90%) Very frequent (99-80%) HP:0000992
17 hypermelanotic macule 59 32 hallmark (90%) Very frequent (99-80%) HP:0001034
18 abnormality of neutrophils 59 32 hallmark (90%) Very frequent (99-80%) HP:0001874
19 liver abscess 59 32 occasional (7.5%) Occasional (29-5%) HP:0100523
20 inflammatory abnormality of the eye 59 32 occasional (7.5%) Occasional (29-5%) HP:0100533
21 mediastinal lymphadenopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0100721
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 homeostasis/metabolism MP:0005376 10.21 CAT CLEC11A CSF2 CYBA CYBB DECR1
2 hematopoietic system MP:0005397 10.2 CLEC11A CSF2 CYBA CYBB IFNG KEL
3 cellular MP:0005384 10.18 CAT CLEC11A CSF2 CYBA CYBB IFNG
4 cardiovascular system MP:0005385 10.14 CSF2 CYBA CYBB IFNG KEL MECOM
5 immune system MP:0005387 9.97 CSF2 CYBA CYBB IFNG MECOM MPO
6 mortality/aging MP:0010768 9.73 CAT CSF2 CYBB IFNG MECOM MPO
7 muscle MP:0005369 9.28 CYBB IFNG KEL MECOM MPO NCF1

Drugs & Therapeutics for Chronic Granulomatous Disease

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

(show top 50) (show all 101)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
2
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
3 Antiviral Agents Phase 4,Phase 2,Phase 1,Early Phase 1,Not Applicable
4 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
5 Interferon-gamma Phase 4,Phase 1
6 interferons Phase 4,Phase 1
7 Nicotinic Acids Phase 4
8 Vitamin B3 Phase 4
9
alemtuzumab Approved, Investigational Phase 3,Phase 2,Early Phase 1,Not Applicable 216503-57-0
10
Posaconazole Approved, Investigational, Vet_approved Phase 3,Phase 2 171228-49-2 147912
11
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2,Not Applicable,Early Phase 1 22916-47-8 4189
12 Hormone Antagonists Phase 3,Phase 2,Not Applicable
13 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2,Not Applicable
14 Antiprotozoal Agents Phase 3,Phase 2
15 Cytochrome P-450 Enzyme Inhibitors Phase 3,Phase 2
16 Hormones Phase 3,Phase 2,Not Applicable
17 Antifungal Agents Phase 3,Phase 2,Not Applicable,Early Phase 1
18 Antiparasitic Agents Phase 3,Phase 2
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 75607-67-9, 21679-14-1 30751
22
Cyclophosphamide Approved, Investigational Phase 2,Phase 1,Not Applicable,Early Phase 1 6055-19-2, 50-18-0 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 hemisuccinate Approved Phase 2,Not Applicable 2921-57-5
26
Prednisone Approved, Vet_approved Phase 2,Not Applicable 53-03-2 5865
27
Prednisolone Approved, Vet_approved Phase 2,Not Applicable 50-24-8 5755
28
Prednisolone phosphate Approved, Vet_approved Phase 2,Not Applicable 302-25-0
29
Methylprednisolone Approved, Vet_approved Phase 2,Not Applicable 83-43-2 6741
30
Pioglitazone Approved, Investigational Phase 1, Phase 2 111025-46-8 4829
31
Ibuprofen Approved Phase 2 15687-27-1 3672
32
Thiotepa Approved, Investigational Phase 2,Phase 1 52-24-4 5453
33
Vidarabine Approved, Investigational Phase 2,Early Phase 1,Not Applicable 24356-66-9 32326 21704
34
Hydroxyurea Approved Phase 2 127-07-1 3657
35
Adalimumab Approved Phase 1, Phase 2 331731-18-1 16219006
36
Infliximab Approved Phase 1, Phase 2 170277-31-3
37
Prednisolone hemisuccinate Experimental Phase 2,Not Applicable 2920-86-7
38 Alkylating Agents Phase 1, Phase 2,Phase 2,Early Phase 1,Not Applicable
39 Antineoplastic Agents, Alkylating Phase 1, Phase 2,Phase 2,Early Phase 1,Not Applicable
40 Immunologic Factors Phase 1, Phase 2,Phase 2,Not Applicable,Early Phase 1
41 Immunosuppressive Agents Phase 1, Phase 2,Phase 2,Not Applicable,Early Phase 1
42 Antimetabolites, Antineoplastic Phase 2,Phase 1,Not Applicable,Early Phase 1
43 Calcineurin Inhibitors Phase 2,Not Applicable
44 Cyclosporins Phase 2,Phase 1,Not Applicable
45 Antirheumatic Agents Phase 2,Phase 1,Not Applicable,Early Phase 1
46 Antimetabolites Phase 2,Phase 1,Not Applicable,Early Phase 1
47 Dermatologic Agents Phase 2,Phase 1,Not Applicable
48
Hydroxyitraconazole Phase 2
49 Cytochrome P-450 CYP3A Inhibitors Phase 2
50 Methylprednisolone acetate Phase 2,Not Applicable

Interventional clinical trials:

(show top 50) (show all 67)
# 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 Matched Unrelated or Non-Genotype Identical Related Donor Transplantation For Chronic Granulomatous Disease Completed NCT00578643 Phase 2 Busulfan;Cyclophosphamide;Fludarabine;Cyclosporine
9 Modified Stem Cell Transplantation Procedure for Treating Chronic Granulomatous Disease Completed NCT00006417 Phase 2
10 Pharmacokinetics of Posaconazole in Children With Chronic Granulomatous Disease (CGD) Completed NCT00799071 Phase 2 posaconazole (PSZ)
11 Itraconazole for the Prevention of Fungal Infections in Chronic Granulomatous Disease Completed NCT00001280 Phase 2 itraconazole
12 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
13 Reduced Intensity Conditioning for Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (BMT CTN 1204) Completed NCT01998633 Phase 2
14 Pioglitazone Therapy for Chronic Granulomatous Disease Recruiting NCT03080480 Phase 1, Phase 2 Pioglitazone
15 Gene Therapy for X-linked Chronic Granulomatous Disease Recruiting NCT02757911 Phase 1, Phase 2
16 Study of Gene Therapy Using a Lentiviral Vector to Treat X-linked Chronic Granulomatous Disease Recruiting NCT02234934 Phase 1, Phase 2
17 Gene Therapy for X-linked Chronic Granulomatous Disease (X-CGD) Recruiting NCT01855685 Phase 1, Phase 2
18 Plerixafor/G-CSF as Additional Agents for Conditioning Before HSCT in CGD Patients Recruiting NCT03547830 Phase 2 Plerixafor;Gcsf
19 Gene Therapy for X-CGD Recruiting NCT01906541 Phase 1, Phase 2
20 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
21 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
22 Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
23 Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer Recruiting NCT03333486 Phase 2 Cyclophosphamide;Fludarabine Phosphate
24 Alpha/Beta T and CD19+ Depleted Peripheral Stem Cells for Patients With Primary Immunodeficiencies Recruiting NCT02990819 Phase 2
25 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
26 Bilateral Orthotopic Lung Transplant - Bone Marrow Transplant Recruiting NCT03330795 Phase 1, Phase 2
27 Gene Therapy for Chronic Granulomatous Disease in Korea Active, not recruiting NCT00778882 Phase 1, Phase 2 VM106
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 Effect of IFN-γ on Innate Immune Cells Active, not recruiting NCT02609932 Phase 1 Administration of drug (Interferon-gamma 1-b) subcutaneously
39 BMT Abatacept for Non-Malignant Diseases Active, not recruiting NCT01917708 Phase 1 Abatacept
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 Lentiviral Gene Therapy for CGD Recruiting NCT03645486 Not Applicable

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

Publications for Chronic Granulomatous Disease

Articles related to Chronic Granulomatous Disease:

(show top 50) (show all 1151)
# 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
A Case of Allergic Broncopulmonary Aspergillosis Associated With Hematopoietic Stem Cell Transplantation Due to Chronic Granulomatous Disease. ( 30095689 )
2018
27
Exogenous Stimulation of Type I Interferon Protects Mice with Chronic Granulomatous Disease from Aspergillosis through Early Recruitment of Host-Protective Neutrophils into the Lung. ( 29588403 )
2018
28
High Incidence of Autoimmune Disease after Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease. ( 29630926 )
2018
29
Correction to: Chronic Granulomatous Disease in a Brazilian Patient Mimetizing Sarcoidosis. ( 29470803 )
2018
30
X-linked chronic granulomatous disease in a female carrier with novel pathogenic mutation and skewed X-inactivation. ( 29508720 )
2018
31
Burkholderia gladioli-associated facial pustulosis as a first sign of chronic granulomatous disease in a child - Case report and review. ( 29509962 )
2018
32
A Cohort of 169 Chronic Granulomatous Disease Patients Exposed to BCG Vaccination: a Retrospective Study from a Single Center in Shanghai, China (2004-2017). ( 29560547 )
2018
33
Chronic Granulomatous Disease: Epidemiology, Pathophysiology, and Genetic Basis of Disease. ( 29746675 )
2018
34
Infectious Complications in Patients With Chronic Granulomatous Disease. ( 29746678 )
2018
35
X-Linked Chronic Granulomatous Disease: Initial Presentation with Intracranial Hemorrhage from Vitamin K Deficiency in Infant. ( 30034904 )
2018
36
LINEZOLID-INDUCED MITOCHONDRIAL TOXICITY PRESENTING AS RETINAL NERVE FIBER LAYER MICROCYSTS AND OPTIC AND PERIPHERAL NEUROPATHY IN A PATIENT WITH CHRONIC GRANULOMATOUS DISEASE. ( 30048406 )
2018
37
p47phox-/- Chronic Granulomatous Disease Patient with Incomplete Kawasaki Disease. ( 30091057 )
2018
38
A novel mutation in CYBB gene in a patient with chronic colitis and recurrent pneumonia due to X-linked chronic granulomatous disease. ( 30094936 )
2018
39
Correction to: Diabetes, Renal, and Cardiovascular Disease in p47phox-/- Chronic Granulomatous Disease. ( 30215144 )
2018
40
Preliminary study on chronic granulomatous disease in Sri Lanka. ( 30237823 )
2018
41
A C126R de novo Mutation in CYBB Leads to X-linked Chronic Granulomatous Disease With Recurrent Pneumonia and BCGitis. ( 30255005 )
2018
42
Gene expression in chronic granulomatous disease and interferon-γ receptor-deficient cells treated in vitro with interferon-γ. ( 30260027 )
2018
43
Chronic granulomatous disease presenting with small bone osteomyelitis in a young child: A case report. ( 30303148 )
2018
44
EROS/CYBC1 mutations: Decreased NADPH oxidase function and chronic granulomatous disease. ( 30312704 )
2018
45
Fungal osteomyelitis in a patient with chronic granulomatous disease: Case report and review of the literature. ( 30317271 )
2018
46
A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease. ( 30361506 )
2018
47
Allogeneic Hematopoietic Stem Cell Transplantation in Adolescent Patients with Chronic Granulomatous Disease. ( 30391552 )
2018
48
An adult autosomal recessive chronic granulomatous disease patient with pulmonary Aspergillus terreus infection. ( 30409207 )
2018
49
Approach to Molecular Diagnosis of Chronic Granulomatous Disease (CGD): an Experience from a Large Cohort of 90 Indian Patients. ( 30470980 )
2018
50
Immunopathology of Aspergillus Infections in Children with Chronic Granulomatous Disease and Cystic Fibrosis. ( 30531311 )
2018

Variations for Chronic Granulomatous Disease

ClinVar genetic disease variations for Chronic Granulomatous Disease:

6 (show top 50) (show all 136)
# Gene Variation Type Significance SNP ID Assembly Location
1 NCF2 NM_000433.3(NCF2): c.1183C> T (p.Arg395Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs13306575 GRCh37 Chromosome 1, 183532437: 183532437
2 NCF2 NM_000433.3(NCF2): c.1183C> T (p.Arg395Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs13306575 GRCh38 Chromosome 1, 183563302: 183563302
3 CYBA NM_000101.3(CYBA): c.467C> A (p.Pro156Gln) single nucleotide variant Pathogenic rs104894515 GRCh37 Chromosome 16, 88709882: 88709882
4 CYBA NM_000101.3(CYBA): c.467C> A (p.Pro156Gln) single nucleotide variant Pathogenic rs104894515 GRCh38 Chromosome 16, 88643474: 88643474
5 CYBB NM_000397.3(CYBB): c.692A> C (p.Gln231Pro) single nucleotide variant Pathogenic rs151344498 GRCh37 Chromosome X, 37658225: 37658225
6 CYBB NM_000397.3(CYBB): c.692A> C (p.Gln231Pro) single nucleotide variant Pathogenic rs151344498 GRCh38 Chromosome X, 37798972: 37798972
7 CYBB NM_000397.3(CYBB): c.532A> C (p.Thr178Pro) single nucleotide variant Pathogenic rs151344497 GRCh37 Chromosome X, 37655252: 37655252
8 CYBB NM_000397.3(CYBB): c.532A> C (p.Thr178Pro) single nucleotide variant Pathogenic rs151344497 GRCh38 Chromosome X, 37795999: 37795999
9 NCF4 NM_013416.3(NCF4): c.314G> A (p.Arg105Gln) single nucleotide variant Pathogenic rs387906808 GRCh37 Chromosome 22, 37263476: 37263476
10 NCF4 NM_013416.3(NCF4): c.314G> A (p.Arg105Gln) single nucleotide variant Pathogenic rs387906808 GRCh38 Chromosome 22, 36867434: 36867434
11 NCF2 NM_000433.3(NCF2): c.606G> A (p.Ala202=) single nucleotide variant Benign/Likely benign rs17849501 GRCh37 Chromosome 1, 183542323: 183542323
12 NCF2 NM_000433.3(NCF2): c.606G> A (p.Ala202=) single nucleotide variant Benign/Likely benign rs17849501 GRCh38 Chromosome 1, 183573188: 183573188
13 NCF4 NM_013416.3(NCF4): c.143_152dupAAGGAGGATC (p.Lys52Argfs) duplication Pathogenic rs869025585 GRCh37 Chromosome 22, 37260986: 37260995
14 NCF4 NM_013416.3(NCF4): c.143_152dupAAGGAGGATC (p.Lys52Argfs) duplication Pathogenic rs869025585 GRCh38 Chromosome 22, 36864944: 36864953
15 NCF2 NM_000433.3(NCF2): c.1167C> A (p.His389Gln) single nucleotide variant Benign/Likely benign rs17849502 GRCh37 Chromosome 1, 183532580: 183532580
16 NCF2 NM_000433.3(NCF2): c.1167C> A (p.His389Gln) single nucleotide variant Benign/Likely benign rs17849502 GRCh38 Chromosome 1, 183563445: 183563445
17 NCF2 NM_000433.3(NCF2): c.1001-10T> G single nucleotide variant Conflicting interpretations of pathogenicity rs36113295 GRCh37 Chromosome 1, 183533175: 183533175
18 NCF2 NM_000433.3(NCF2): c.1001-10T> G single nucleotide variant Conflicting interpretations of pathogenicity rs36113295 GRCh38 Chromosome 1, 183564040: 183564040
19 NCF2 NM_000433.3(NCF2): c.542A> G (p.Lys181Arg) single nucleotide variant Benign rs2274064 GRCh37 Chromosome 1, 183542387: 183542387
20 NCF2 NM_000433.3(NCF2): c.542A> G (p.Lys181Arg) single nucleotide variant Benign rs2274064 GRCh38 Chromosome 1, 183573252: 183573252
21 NCF4 NM_013416.3(NCF4): c.69G> A (p.Ser23=) single nucleotide variant Benign/Likely benign rs10854695 GRCh37 Chromosome 22, 37260123: 37260123
22 NCF4 NM_013416.3(NCF4): c.69G> A (p.Ser23=) single nucleotide variant Benign/Likely benign rs10854695 GRCh38 Chromosome 22, 36864081: 36864081
23 NCF4 NM_013416.3(NCF4): c.628-14C> A single nucleotide variant Conflicting interpretations of pathogenicity rs56071149 GRCh37 Chromosome 22, 37271681: 37271681
24 NCF4 NM_013416.3(NCF4): c.628-14C> A single nucleotide variant Conflicting interpretations of pathogenicity rs56071149 GRCh38 Chromosome 22, 36875639: 36875639
25 NCF4 NM_013416.3(NCF4): c.735C> T (p.Tyr245=) single nucleotide variant Benign/Likely benign rs2072712 GRCh38 Chromosome 22, 36875760: 36875760
26 NCF4 NM_013416.3(NCF4): c.735C> T (p.Tyr245=) single nucleotide variant Benign/Likely benign rs2072712 GRCh37 Chromosome 22, 37271802: 37271802
27 NCF4 NM_013416.3(NCF4): c.815T> C (p.Leu272Pro) single nucleotide variant Benign rs2075939 GRCh38 Chromosome 22, 36875840: 36875840
28 NCF4 NM_013416.3(NCF4): c.815T> C (p.Leu272Pro) single nucleotide variant Benign rs2075939 GRCh37 Chromosome 22, 37271882: 37271882
29 NCF4 NM_013416.3(NCF4): c.*95G> A single nucleotide variant Benign rs11552115 GRCh38 Chromosome 22, 36877700: 36877700
30 NCF4 NM_013416.3(NCF4): c.*95G> A single nucleotide variant Benign rs11552115 GRCh37 Chromosome 22, 37273742: 37273742
31 NCF2 NM_000433.3(NCF2): c.*517dupT duplication Uncertain significance rs573207861 GRCh37 Chromosome 1, 183524736: 183524736
32 NCF2 NM_000433.3(NCF2): c.*517dupT duplication Uncertain significance rs573207861 GRCh38 Chromosome 1, 183555601: 183555601
33 NCF2 NM_000433.3(NCF2): c.*508_*512dupGGTTA duplication Uncertain significance rs555649211 GRCh37 Chromosome 1, 183524741: 183524745
34 NCF2 NM_000433.3(NCF2): c.*508_*512dupGGTTA duplication Uncertain significance rs555649211 GRCh38 Chromosome 1, 183555606: 183555610
35 NCF2 NM_000433.3(NCF2): c.*510T> A single nucleotide variant Uncertain significance rs886045646 GRCh37 Chromosome 1, 183524743: 183524743
36 NCF2 NM_000433.3(NCF2): c.*510T> A single nucleotide variant Uncertain significance rs886045646 GRCh38 Chromosome 1, 183555608: 183555608
37 NCF2 NM_000433.3(NCF2): c.*398G> T single nucleotide variant Benign rs796860 GRCh37 Chromosome 1, 183524855: 183524855
38 NCF2 NM_000433.3(NCF2): c.*398G> T single nucleotide variant Benign rs796860 GRCh38 Chromosome 1, 183555720: 183555720
39 NCF2 NM_000433.3(NCF2): c.1498A> G (p.Lys500Glu) single nucleotide variant Uncertain significance rs886045651 GRCh38 Chromosome 1, 183556201: 183556201
40 NCF2 NM_000433.3(NCF2): c.1498A> G (p.Lys500Glu) single nucleotide variant Uncertain significance rs886045651 GRCh37 Chromosome 1, 183525336: 183525336
41 NCF2 NM_000433.3(NCF2): c.1084G> A (p.Val362Ile) single nucleotide variant Uncertain significance rs886045656 GRCh38 Chromosome 1, 183563528: 183563528
42 NCF2 NM_000433.3(NCF2): c.1084G> A (p.Val362Ile) single nucleotide variant Uncertain significance rs886045656 GRCh37 Chromosome 1, 183532663: 183532663
43 NCF2 NM_000433.3(NCF2): c.443C> T (p.Thr148Met) single nucleotide variant Uncertain significance rs764142541 GRCh38 Chromosome 1, 183574545: 183574545
44 NCF2 NM_000433.3(NCF2): c.443C> T (p.Thr148Met) single nucleotide variant Uncertain significance rs764142541 GRCh37 Chromosome 1, 183543680: 183543680
45 NCF2 NM_000433.3(NCF2): c.*543_*546delGTTT deletion Uncertain significance rs376681445 GRCh37 Chromosome 1, 183524707: 183524710
46 NCF2 NM_000433.3(NCF2): c.*543_*546delGTTT deletion Uncertain significance rs376681445 GRCh38 Chromosome 1, 183555572: 183555575
47 NCF2 NM_000433.3(NCF2): c.*397_*398insTCA insertion Uncertain significance rs886045648 GRCh37 Chromosome 1, 183524855: 183524856
48 NCF2 NM_000433.3(NCF2): c.*397_*398insTCA insertion Uncertain significance rs886045648 GRCh38 Chromosome 1, 183555720: 183555721
49 NCF2 NM_000433.3(NCF2): c.*393dupA duplication Uncertain significance rs771465757 GRCh38 Chromosome 1, 183555725: 183555725
50 NCF2 NM_000433.3(NCF2): c.*393dupA duplication Uncertain significance rs771465757 GRCh37 Chromosome 1, 183524860: 183524860

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 33)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.12 CSF2 CYBA CYBB KEL NCF1 NCF2
2
Show member pathways
13.96 CAT CSF2 CYBA CYBB IFNG MPO
3
Show member pathways
13.33 CYBA CYBB NCF1 NCF2 NCF4 NOX1
4
Show member pathways
13.26 CLEC11A CSF2 CYBB NCF1 NCF2 NCF4
5
Show member pathways
13.04 CAT CYBA CYBB NCF1 NCF2 NCF4
6
Show member pathways
12.97 CYBA CYBB NCF1 NCF2 NCF4 NOX1
7
Show member pathways
12.78 CSF2 MECOM MPO RAC1 RAC2
8
Show member pathways
12.6 CYBA CYBB NCF1 NCF2 NCF4 RAC1
9 12.56 IFNG MECOM MPO NCF1 NCF4 TLR9
10
Show member pathways
12.45 CYBA CYBB NCF1 NCF2 NCF4 RAC1
11
Show member pathways
12.43 CSF2 IFNG RAC1 RAC2
12
Show member pathways
12.43 CYBA CYBB NCF1 NCF2 NCF4
13
Show member pathways
12.33 CLEC11A CYBA CYBB NCF1 NCF2 NOX1
14
Show member pathways
12.31 CYBA CYBB NCF1 NCF2 RAC1 RAC2
15
Show member pathways
12.21 CYBA CYBB IFNG NCF1 NCF2 NCF4
16
Show member pathways
12.16 CYBA CYBB NCF1 NCF2 NCF4 NOX1
17 12.05 CYBA CYBB MPO NCF1 NCF2 NCF4
18 12.04 CYBA CYBB NCF1 NCF2 RAC2
19 11.94 CYBA IFNG NCF1 NCF2 NOX1 RAC1
20 11.9 CSF2 IFNG MPO
21 11.89 CAT RAC1 RAC2
22 11.81 CYBB NOX1 RAC1
23
Show member pathways
11.81 CYBA CYBB NCF1 NCF2 NCF4 RAC2
24 11.81 CYBA IFNG NCF1 NCF2 NCF4 NOX1
25 11.76 NCF1 RAC1 RAC2
26 11.72 CSF2 IFNG RAC1
27 11.71 RAC1 RAC2 TLR9
28 11.64 CSF2 IFNG TLR9
29 11.34 CYBA CYBB NCF1 NCF2 RAC2
30
Show member pathways
11.17 CAT CYBA CYBB NCF1 NCF2 NCF4
31 11.13 CYBA NCF4 RAC2
32 10.93 CLEC11A CSF2 NCF2 RAC1 RAC2
33 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 phagocytic vesicle membrane GO:0030670 9.33 CYBA CYBB RAC2
2 NADPH oxidase complex GO:0043020 9.17 CYBA CYBB NCF1 NCF1C NCF2 NCF4
3 phagolysosome GO:0032010 9.13 NCF1 NCF2 NCF4

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.98 CYBA CYBB NCF1 NCF2 TLR9
2 neutrophil degranulation GO:0043312 9.97 CAT CYBA CYBB MPO RAC1
3 inflammatory response GO:0006954 9.95 CYBA CYBB NOX1 RAC1 TLR9
4 response to drug GO:0042493 9.92 CAT CYBA CYBB MT-CYB
5 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.8 CYBA CYBB NCF1 NCF2 NCF4 RAC1
6 positive regulation of catalytic activity GO:0043085 9.77 NCF1C NCF2 NCF4
7 cellular response to oxidative stress GO:0034599 9.77 CAT CYBA CYBB
8 positive regulation of JNK cascade GO:0046330 9.75 NCF1 NOX1 TLR9
9 electron transport chain GO:0022900 9.71 CYBA CYBB NCF1 NCF2
10 response to hyperoxia GO:0055093 9.61 CAT MT-CYB
11 hydrogen peroxide biosynthetic process GO:0050665 9.56 CYBA CYBB
12 superoxide anion generation GO:0042554 9.55 CYBA CYBB NCF1 NCF2 NOX1
13 cellular magnesium ion homeostasis GO:0010961 9.54 KEL XK
14 regulation of cell size GO:0008361 9.54 KEL RAC1 XK
15 positive regulation of interleukin-23 production GO:0032747 9.52 CSF2 IFNG
16 regulation of axon diameter GO:0031133 9.51 KEL XK
17 regulation of hydrogen peroxide metabolic process GO:0010310 9.49 RAC1 RAC2
18 regulation of respiratory burst GO:0060263 9.48 RAC1 RAC2
19 cellular response to L-glutamine GO:1904845 9.46 CYBA CYBB
20 response to aldosterone GO:1904044 9.43 CYBA CYBB
21 superoxide metabolic process GO:0006801 9.43 CYBA CYBB NCF1 NCF1C NCF2 NCF4
22 respiratory burst GO:0045730 9.17 CYBA CYBB NCF1 NCF1C NCF2 NCF4
23 positive regulation of cell proliferation GO:0008284 10.01 CLEC11A CSF2 IFNG NOX1 RAC2
24 oxidation-reduction process GO:0055114 10 CAT CYBA CYBB DECR1 MPO MT-CYB

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 heme binding GO:0020037 9.62 CAT CYBA CYBB MPO
3 electron transfer activity GO:0009055 9.55 CYBA CYBB MT-CYB NCF1 NCF2
4 phosphatidylinositol binding GO:0035091 9.54 NCF1 NCF1C NCF4
5 superoxide-generating NADPH oxidase activator activity GO:0016176 9.26 NCF1 NCF1C NCF2 NCF4
6 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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