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MCID: SVR066
MIFTS: 63

Severe Combined Immunodeficiency, X-Linked

Categories: Genetic diseases, Rare diseases, Blood diseases, Immune diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Severe Combined Immunodeficiency, X-Linked

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MalaCards integrated aliases for Severe Combined Immunodeficiency, X-Linked:

Name: Severe Combined Immunodeficiency, X-Linked 57 53 13 55
X-Linked Severe Combined Immunodeficiency 12 76 24 53 25 29 6
Scidx1 57 53 25 59 75
Xscid 57 12 53 25 75
Scidx 57 53 75
Severe Combined Immunodeficiency, X-Linked, T Cell-Negative, B Cell-Positive, Nk Cell-Negative 57 53
X-Linked Combined Immunodeficiency Diseases 44 73
Gamma Chain Deficiency 12 15
Immunodeficiency 4 57 75
Scid, X-Linked 57 53
X-Linked Scid 53 25
X-Scid 53 25
Imd4 57 75
Severe Combined Immunodeficiency X-Linked T-Cell-Negative/b-Cell-Positive/nk-Cell-Negative 75
Severe Combined Immunodeficiency X-Linked T Cell-Negative/b Cell-Positive/nk Cell-Negative 75
Severe Combined Immunodeficiency X-Linked T-Cell Negative/b-Cell Positive/nk-Cell Negative 75
Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency 73
Severe Combined Immunodeficiency T- B+ Due to Gamma Chain Deficiency 53
T-B+ Severe Combined Immunodeficiency Due to Gamma Chain Deficiency 59
Severe Combined Immunodeficiency T- B+, X-Linked 53
T-B+ Severe Combined Immunodeficiency, X-Linked 59
T-B+ Scid Due to Gamma Chain Deficiency 59
Immunodeficiency, Combined, X-Linked 40
Agammaglobulinemia Swiss Type 75
Thymic Epithelial Hypoplasia 12
Immunodeficiency 4; Imd4 57
Il2rg Scid, T- B+ Nk- 25
Scid X-Linked 75
Scidx; Xscid 57
Scid-X1 12

Characteristics:

Orphanet epidemiological data:

59
t-b+ severe combined immunodeficiency due to gamma chain deficiency
Inheritance: X-linked recessive; Age of onset: Neonatal;

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
death within first year of life


HPO:

32
severe combined immunodeficiency, x-linked:
Inheritance x-linked recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 300400
Disease Ontology 12 DOID:0060013
NCIt 50 C4682
SNOMED-CT 68 203592006 234569003
Orphanet 59 ORPHA276
UMLS via Orphanet 74 C2931540
ICD10 via Orphanet 34 D81.2
Sources

Summaries for Severe Combined Immunodeficiency, X-Linked

About this section
NIH Rare Diseases : 53 X-linked severe combined immunodeficiency (X-SCID) is a severe, genetic condition of the immune system. Signs and symptoms often become apparent in early infancy and include failure to thrive; oral/diaper candidiasis (yeast infection); absent tonsils and lymph nodes; recurrent, persistent infections; rashes; diarrhea; fevers; and pneumonia. X-SCID is caused by mutations in the IL2RG gene and is inherited in an X-linked recessive manner; it only affects males. The condition is typically fatal in the first two years of life unless treated with a bone marrow transplant or gene therapy.

MalaCards based summary : Severe Combined Immunodeficiency, X-Linked, also known as x-linked severe combined immunodeficiency, is related to autoimmune disease and combined immunodeficiency, x-linked. An important gene associated with Severe Combined Immunodeficiency, X-Linked is IL2RG (Interleukin 2 Receptor Subunit Gamma), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Pharmaceutical Solutions and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include t cells, b cells and nk cells, and related phenotypes are hypoplasia of the thymus and skin rash

UniProtKB/Swiss-Prot : 75 Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative: A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development.

Genetics Home Reference : 25 X-linked severe combined immunodeficiency (SCID) is an inherited disorder of the immune system that occurs almost exclusively in males. Boys with X-linked SCID are prone to recurrent and persistent infections because they lack the necessary immune cells to fight off certain bacteria, viruses, and fungi. Many infants with X-linked SCID develop chronic diarrhea, a fungal infection called thrush, and skin rashes. Affected individuals also grow more slowly than other children. Without treatment, males with X-linked SCID usually do not live beyond infancy.

Disease Ontology : 12 A severe combined immunodeficiency that is a X-linked SCID that has material basis in mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells.

Wikipedia : 76 X-linked severe combined immunodeficiency (X-SCID) is an immunodeficiency disorder in which the body... more...

Description from OMIM: 300400
GeneReviews:
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Related Diseases for Severe Combined Immunodeficiency, X-Linked

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Diseases related to Severe Combined Immunodeficiency, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 autoimmune disease 28.7 IL2 IL21 IL4
2 combined immunodeficiency, x-linked 25.4 ADA IL2 IL2RG IL4 IL7 IL7R
3 severe combined immunodeficiency 25.4 ADA IL2 IL2RG IL4 IL7 IL7R
4 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency 11.1
5 immunodeficiency, common variable, 4 11.0
6 b cell linker protein deficiency 10.5 IL7 JAK3
7 b-cell growth factor 10.4 IL4 IL7
8 trichinosis 10.4 IL4 IL9
9 natural killer cell leukemia 10.4 IL4 IL7
10 papillary conjunctivitis 10.3 IL4 IL7
11 enterobiasis 10.3 IL4 IL9
12 virus associated hemophagocytic syndrome 10.3 IL2 IL4
13 atopic keratoconjunctivitis 10.2 IL2 IL4
14 angiostrongyliasis 10.2 IL2 IL4
15 thymic dysplasia 10.2 IL2RG IL7 IL9
16 microscopic colitis 10.2 IL2 IL4
17 vulvovaginal candidiasis 10.2 IL2 IL4
18 coccidiosis 10.2 IL2 IL4
19 lymphoblastic leukemia, acute, with lymphomatous features 10.2 IL7R JAK3
20 acute graft versus host disease 10.1 IL2 IL4
21 onchocerciasis 10.1 IL2 IL4
22 vernal conjunctivitis 10.1 IL2 IL4
23 t cell deficiency 10.1 IL2 IL7R
24 paracoccidioidomycosis 10.1 IL2 IL4
25 brucellosis 10.0 IL2 IL4
26 leukocyte disease 10.0 IL2 IL4
27 adenosine deaminase deficiency 10.0 ADA IL2RG
28 tonsillitis 10.0 IL2 IL4
29 leprosy 3 10.0 IL2 IL4
30 spondyloarthropathy 9.9 IL2 IL4
31 tuberculous empyema 9.9 ADA IL2
32 agammaglobulinemia 9.9
33 conjunctivitis 9.9 IL2 IL4
34 sezary's disease 9.8 IL2 IL4 IL7
35 cutaneous t cell lymphoma 9.8 IL2 IL4 IL7
36 pleurisy 9.8 ADA IL2
37 parasitic protozoa infectious disease 9.7 IL2 IL4
38 lymphoblastic leukemia 9.6 IL2 IL7R JAK3
39 autoimmune disease 1 9.6
40 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.6
41 lipoprotein glomerulopathy 9.6
42 common variable immunodeficiency 9.6 IL2 IL21 IL4
43 viral infectious disease 9.5 IL2 IL4 IL7R
44 renal cell carcinoma, nonpapillary 9.5 IL2 IL21 IL4
45 keratoconjunctivitis 9.4 IL2 IL4
46 interleukin-7 receptor alpha deficiency 9.4 IL2RG IL7 IL7R JAK3
47 jak3-deficient severe combined immunodeficiency 9.4 IL2 IL4 IL9 JAK3
48 hematologic cancer 9.4 ADA IL2 IL7
49 lymphopenia 9.4 IL2 IL2RG IL7 IL7R
50 primary bacterial infectious disease 9.3 ADA IL2 IL4

Graphical network of the top 20 diseases related to Severe Combined Immunodeficiency, X-Linked:



Diseases related to Severe Combined Immunodeficiency, X-Linked
Sources

Symptoms & Phenotypes for Severe Combined Immunodeficiency, X-Linked

About this section

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Abdomen Gastrointestinal:
chronic diarrhea

Respiratory Lung:
pneumonia

Head And Neck Mouth:
oral thrush

Neurologic Central Nervous System:
recurrent bacterial meningitis

Abdomen Liver:
hepatomegaly

Laboratory Abnormalities:
agammaglobulinemia
low absolute lymphocyte count

Immunology:
thymic hypoplasia
frequent bacterial, fungal and viral infections
specific antibody production very poor
natural killer cells, reduced numbers and cytotoxicity
absent t lymphocytes
more
Skin Nails Hair Skin:
candidal diaper rash
erythematous skin rashes


Clinical features from OMIM:

300400

Human phenotypes related to Severe Combined Immunodeficiency, X-Linked:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 hypoplasia of the thymus 32 HP:0000778
2 skin rash 32 HP:0000988
3 failure to thrive 32 HP:0001508
4 chronic diarrhea 32 HP:0002028
5 pneumonia 32 HP:0002090
6 hepatomegaly 32 HP:0002240
7 recurrent fungal infections 32 HP:0002841
8 severe combined immunodeficiency 32 HP:0004430
9 agammaglobulinemia 32 HP:0004432
10 recurrent bacterial meningitis 32 HP:0007274
11 chronic oral candidiasis 32 HP:0009098

MGI Mouse Phenotypes related to Severe Combined Immunodeficiency, X-Linked:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.81 ADA IL2 IL21 IL2RG IL4 IL7
2 digestive/alimentary MP:0005381 9.8 ADA IL2 IL2RG IL4 IL9 JAK3
3 endocrine/exocrine gland MP:0005379 9.8 ADA IL2 IL2RG IL4 IL7 IL7R
4 immune system MP:0005387 9.61 ADA IL2 IL21 IL2RG IL4 IL7
5 normal MP:0002873 9.1 ADA IL21 IL2RG IL4 IL7R IL9
Sources

Drugs & Therapeutics for Severe Combined Immunodeficiency, X-Linked

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Drugs for Severe Combined Immunodeficiency, X-Linked (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 45)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 2, Phase 3
2
Busulfan Approved, Investigational Phase 1, Phase 2,Phase 2 55-98-1 2478
3
Amiloride Approved Phase 2 2016-88-8, 2609-46-3 16231
4
Hydrochlorothiazide Approved, Vet_approved Phase 2 58-93-5 3639
5
Teriparatide Approved, Investigational Phase 2 52232-67-4 16133850
6
Alfacalcidol Approved, Nutraceutical Phase 2 41294-56-8 5282181
7
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
8 Alkylating Agents Phase 1, Phase 2,Phase 2
9 Antineoplastic Agents, Alkylating Phase 1, Phase 2,Phase 2
10 Immunosuppressive Agents Phase 1, Phase 2,Phase 2
11 Antihypertensive Agents Phase 2
12 Bone Density Conservation Agents Phase 2
13 Calcium, Dietary Phase 2
14 diuretics Phase 2
15 Diuretics, Potassium Sparing Phase 2
16 Hydroxycholecalciferols Phase 2
17 Micronutrients Phase 2
18 Natriuretic Agents Phase 2
19 Sodium Channel Blockers Phase 2
20 Sodium Chloride Symporter Inhibitors Phase 2
21 Trace Elements Phase 2
22 Vitamins Phase 2
23 Hormones Phase 1, Phase 2
24 Hypoglycemic Agents Phase 1, Phase 2
25 insulin Phase 1, Phase 2
26 Insulin, Globin Zinc Phase 1, Phase 2
27 Mitogens Phase 1, Phase 2
28
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
29
Mycophenolate mofetil Approved, Investigational Phase 1 128794-94-5 5281078
30
Mycophenolic acid Approved Phase 1 24280-93-1 446541
31 Anti-Bacterial Agents Phase 1
32 Antibiotics, Antitubercular Phase 1
33 Antifungal Agents Phase 1
34 Anti-Infective Agents Phase 1
35 Antirheumatic Agents Phase 1
36 Antitubercular Agents Phase 1
37 Calcineurin Inhibitors Phase 1
38 Cyclosporins Phase 1
39 Dermatologic Agents Phase 1
40
Menthol Approved 2216-51-5 16666
41
Acetylcholine Approved 51-84-3 187
42
Nitroprusside Approved, Investigational 15078-28-1 11963622
43 Coagulants Not Applicable
44 Factor VIII Not Applicable
45 Estrogens

Interventional clinical trials:

(show all 32)
# Name Status NCT ID Phase Drugs
1 Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Idursulfase Completed NCT00630747 Phase 2, Phase 3
2 Gene Therapy for X-linked Severe Combined Immunodeficiency Unknown status NCT01410019 Phase 1, Phase 2
3 Safety and Efficacy of Umbilical Cord Mesenchymal Stem Cell Therapy for Patients With Duchenne Muscular Dystrophy Unknown status NCT01610440 Phase 1, Phase 2
4 An Open-Label Clinical Trial of Replagal Enzyme Therapy in Children Ages 7-17 Years With Fabry Disease Completed NCT00071877 Phase 2 Replagal
5 Lentiviral Gene Transfer for Treatment of Children Older Than Two Years of Age With X-Linked Severe Combined Immunodeficiency (XSCID) Recruiting NCT01306019 Phase 1, Phase 2 Busulfan
6 Lentiviral Gene Transfer for Treatment of Children Older Than 2 Years of Age With X-Linked Severe Combined Immunodeficiency Recruiting NCT03315078 Phase 1, Phase 2 Palifermin;Busulfan
7 Gene Transfer for SCID-X1 Using a Self-inactivating Lentiviral Vector Recruiting NCT03217617 Phase 1, Phase 2
8 Gene Transfer for X-Linked Severe Combined Immunodeficiency in Newly Diagnosed Infants Recruiting NCT01512888 Phase 1, Phase 2 Busulfan
9 Phase I/II Trial of Lentiviral Gene Transfer for SCID-X1 With Low Dose Targeted Busulfan Conditioning Recruiting NCT03311503 Phase 1, Phase 2
10 Recombinant Human rhPTH(1-34) VS Association Alfacalcidol/Hydrochlorothiazide in Severe Primary Hypoparathyroidism Recruiting NCT02824718 Phase 2 Teriparatide;Thiazide;Potassium sparing diuretic;Alfacalcidol
11 Gene Transfer for Severe Combined Immunodeficiency, X-linked (SCID-X1) Using a Self-inactivating (SIN) Gammaretroviral Vector Active, not recruiting NCT01129544 Phase 1, Phase 2
12 Treatment for Growth Failure in Patients With X-Linked Severe Combined Immunodeficiency: Phase 2 Study of Insulin-Like Growth Factor-1 Terminated NCT00490100 Phase 1, Phase 2 Increlex
13 Stem Cell Gene Therapy to Treat X-Linked Severe Combined Immunodeficiency (XSCID) Completed NCT00028236 Phase 1 Gene-Transduced Autologous CD34+ Stem Cells
14 An Open-Label Maintenance Study of the Enzyme Replacement Therapy Replagal in Patients With Fabry Disease Completed NCT00357786 Phase 1 Replagal agalsidase alfa;Replagal
15 Gene Therapy for Gaucher's and Fabry Disease Using Viruses and Blood-Forming Cells Completed NCT00001234 Phase 1
16 Total-Body Irradiation Followed By Cyclosporine and Mycophenolate Mofetil in Treating Patients With Severe Combined Immunodeficiency Undergoing Donor Bone Marrow Transplant Active, not recruiting NCT00008450 Phase 1 Cyclosporine;Mycophenolate Mofetil
17 Efficacy and Safety of ADVATE Standard Prophylaxis to Hemophilia A Unknown status NCT02280265 Not Applicable Recombinant Human Coagulation Factor VIII for injection
18 Genome-wide Single Cell Haplotyping as a Generic Method for Preimplantation Genetic Diagnosis Unknown status NCT01336400
19 Influences on Female Adolescents' Decisions Regarding Testing for Carrier Status of XSCID Completed NCT00006335
20 Establishment of Biomarkers for Fabry Disease Completed NCT01165697
21 Vasodilation in Patients With Fabry's Disease Completed NCT00001774
22 Analysis of the Nervous System in Patients With Fabry's Disease Completed NCT00001491
23 Genetic Studies Spermatogenic Failure Completed NCT00548977
24 Evaluation of Patients With Immune Function Abnormalities Recruiting NCT00128973
25 Natural History Study of SCID Disorders Recruiting NCT01186913
26 Natural History of the Progression of Choroideremia Study Recruiting NCT03359551
27 Patients Treated for SCID (1968-Present) Recruiting NCT01346150
28 Use of G-CSF to Obtain Blood Cell Precursors Recruiting NCT00001405
29 Gene Therapy for X-linked Severe Combined Immunodeficiency (SCID-X1) Active, not recruiting NCT01175239 Not Applicable
30 Platelet Function in Patients With Hemophilia A Enrolling by invitation NCT02093065
31 Molecular and Clinical Studies of Primary Immunodeficiency Diseases Enrolling by invitation NCT00006319
32 cliniMACs HUD for T Cell Depletion No longer available NCT02915406

Search NIH Clinical Center for Severe Combined Immunodeficiency, X-Linked

Cochrane evidence based reviews: x-linked combined immunodeficiency diseases

Sources

Genetic Tests for Severe Combined Immunodeficiency, X-Linked

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Genetic tests related to Severe Combined Immunodeficiency, X-Linked:

# Genetic test Affiliating Genes
1 X-Linked Severe Combined Immunodeficiency 29 IL2RG
Sources

Anatomical Context for Severe Combined Immunodeficiency, X-Linked

About this section

MalaCards organs/tissues related to Severe Combined Immunodeficiency, X-Linked:

41
T Cells, B Cells, Nk Cells, Bone, Bone Marrow, Skin, Lymph Node
Sources

Publications for Severe Combined Immunodeficiency, X-Linked

About this section

Articles related to Severe Combined Immunodeficiency, X-Linked:

(show top 50) (show all 126)
# Title Authors Year
1
Preclinical Development of a Lentiviral Vector for Gene Therapy of X-Linked Severe Combined Immunodeficiency. ( 29707600 )
2018
2
X-Linked Severe Combined Immunodeficiency and Hepatoblastoma: A Case Report and Review of Literature. ( 29620683 )
2018
3
Acute Myeloid Leukemia in a Patient With X-linked Severe Combined Immunodeficiency. ( 28678090 )
2017
4
Maternal T and B cell engraftment in two cases of X-linked severe combined immunodeficiency with IgG1 gammopathy. ( 28780374 )
2017
5
A novel deletion mutation in IL2RG gene results in X-linked severe combined immunodeficiency with an atypical phenotype. ( 27566612 )
2016
6
Gene Therapy for X-Linked Severe Combined Immunodeficiency: Where Do We Stand? ( 26790362 )
2016
7
Lentiviral hematopoietic stem cell gene therapy for X-linked severe combined immunodeficiency. ( 27099176 )
2016
8
Different Clinical Phenotypes in 2 Siblings With X-Linked Severe Combined Immunodeficiency. ( 27012023 )
2016
9
X-linked severe combined immunodeficiency (X-SCID) rats for xeno-transplantation and behavioral evaluation. ( 25662444 )
2015
10
Analysis of Mutations in the IL2RG Gene in 2 Asian Infants With X-linked Severe Combined Immunodeficiency. ( 26310054 )
2015
11
A novel common gamma chain mutation in a Chinese family with X-linked severe combined immunodeficiency (X-SCID; T(-)NK(-)B(+)). ( 26409833 )
2015
12
Mutation analyses and prenatal diagnosis in families of X-linked severe combined immunodeficiency caused by IL2RI^ gene novel mutation. ( 26125817 )
2015
13
Gene therapy studies in a canine model of x-linked severe combined immunodeficiency. ( 25603151 )
2015
14
A modified I^-retrovirus vector for X-linked severe combined immunodeficiency. ( 25295500 )
2014
15
Keratinocyte antiviral response to Poly(dA:dT) stimulation and papillomavirus infection in a canine model of X-linked severe combined immunodeficiency. ( 25025687 )
2014
16
X-linked severe combined immunodeficiency due to a novel mutation complicated with hemophagocytic lymphohistiocytosis and presented with invagination: A case report. ( 25215194 )
2014
17
Clinical characteristics and mutation analysis of X-linked severe combined immunodeficiency in China. ( 22105576 )
2013
18
Novel mutation of IL2RG gene in a Korean boy with X-linked severe combined immunodeficiency. ( 23653982 )
2013
19
Massively parallel sequencing reveals maternal somatic IL2RG mosaicism in an X-linked severe combined immunodeficiency family. ( 23683512 )
2013
20
Gene therapy model of X-linked severe combined immunodeficiency using a modified foamy virus vector. ( 23990961 )
2013
21
Multiple reversions of an IL2RG mutation restore T cell function in an X-linked severe combined immunodeficiency patient. ( 22460439 )
2012
22
Critical variables affecting clinical-grade production of the self-inactivating gamma-retroviral vector for the treatment of X-linked severe combined immunodeficiency. ( 22551777 )
2012
23
Long-term persistence of a polyclonal T cell repertoire after gene therapy for X-linked severe combined immunodeficiency. ( 21865537 )
2011
24
Ex vivo I^-retroviral gene therapy of dogs with X-linked severe combined immunodeficiency and the development of a thymic T cell lymphoma. ( 21536334 )
2011
25
Generation of knockout rats with X-linked severe combined immunodeficiency (X-SCID) using zinc-finger nucleases. ( 20111598 )
2010
26
Efficacy of gene therapy for X-linked severe combined immunodeficiency. ( 20660403 )
2010
27
Partially corrected X-linked severe combined immunodeficiency: long-term problems and treatment options. ( 18979075 )
2009
28
The evolution of gene therapy in X-linked severe combined immunodeficiency. ( 19492655 )
2009
29
Recombinant DNA advisory committee updates recommendations on gene transfer for x-linked severe combined immunodeficiency. ( 19404322 )
2009
30
A mutation in the IL-2 receptor gamma chain gene associated with X-linked severe combined immunodeficiency accompanying opisthotonus. ( 19398866 )
2009
31
Case of leukaemia associated with X-linked severe combined immunodeficiency gene therapy trial in London. ( 18380015 )
2008
32
Clinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined immunodeficiency. ( 18728247 )
2008
33
Self-inactivating gammaretroviral vectors for gene therapy of X-linked severe combined immunodeficiency. ( 18180772 )
2008
34
Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Cell 73: 147-157. 1993. ( 18941169 )
2008
35
Detection of T lymphocytes with a second-site mutation in skin lesions of atypical X-linked severe combined immunodeficiency mimicking Omenn syndrome. ( 18559672 )
2008
36
Short stature in partially corrected X-linked severe combined immunodeficiency--suboptimal response to growth hormone. ( 19189700 )
2008
37
Tumor immune surveillance defect of X-linked severe combined immunodeficiency is not Epstein-Barr virus specific. ( 18615703 )
2008
38
Maternal T-cell engraftment associated with severe hemophagocytosis of the bone marrow in untreated X-linked severe combined immunodeficiency. ( 18458578 )
2008
39
Rituximab for lymphoproliferative disease prior to haematopoietic stem cell transplantation for X-linked severe combined immunodeficiency. ( 16732583 )
2008
40
Combating oncogene activation associated with retrovirus-mediated gene therapy of X-linked severe combined immunodeficiency. ( 17464421 )
2007
41
X-linked severe combined immunodeficiency (X-SCID) with high blood levels of immunoglobulins and Aspergillus pneumonia successfully treated with micafangin followed by unrelated cord blood stem cell transplantation. ( 16915374 )
2007
42
Gene therapy improves immune function in preadolescents with X-linked severe combined immunodeficiency. ( 17369490 )
2007
43
Marking of peripheral T-lymphocytes by retroviral transduction and transplantation of CD34+ cells in a canine X-linked severe combined immunodeficiency model. ( 17442404 )
2007
44
Correction of canine X-linked severe combined immunodeficiency by in vivo retroviral gene therapy. ( 16384923 )
2006
45
Detection of a novel nonsense mutation in the interleukin 2 receptor gamma gene causing X-linked severe combined immunodeficiency. ( 16680939 )
2006
46
Disseminated cutaneous bacille Calmette-GuAcrin infection identified by polymerase chain reaction in a patient with X-linked severe combined immunodeficiency. ( 17155998 )
2006
47
Disseminated Bacille Calmette-GuAcrin disease as the initial presentation of X-linked severe combined immunodeficiency--a case report. ( 16572742 )
2005
48
T-cell-depleted CD34+ cell transplantation from an HLA-mismatched donor in a low-birthweight infant with X-linked severe combined immunodeficiency. ( 15701981 )
2005
49
Treatment of an infant with X-linked severe combined immunodeficiency (SCID-X1) by gene therapy in Australia. ( 15865589 )
2005
50
Activation of the T-cell oncogene LMO2 after gene therapy for X-linked severe combined immunodeficiency. ( 14985489 )
2004
Sources

Variations for Severe Combined Immunodeficiency, X-Linked

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UniProtKB/Swiss-Prot genetic disease variations for Severe Combined Immunodeficiency, X-Linked:

75 (show all 31)
# Symbol AA change Variation ID SNP ID
1 IL2RG p.Asp39Asn VAR_002668
2 IL2RG p.Cys62Gly VAR_002669
3 IL2RG p.Glu68Gly VAR_002670
4 IL2RG p.Glu68Lys VAR_002671
5 IL2RG p.Asn84Lys VAR_002672
6 IL2RG p.Tyr89Cys VAR_002673
7 IL2RG p.Tyr105Cys VAR_002674 rs193922347
8 IL2RG p.Gly114Asp VAR_002675 rs111033620
9 IL2RG p.Cys115Phe VAR_002676
10 IL2RG p.Cys115Arg VAR_002677 rs111033622
11 IL2RG p.His123Pro VAR_002678
12 IL2RG p.Tyr125Asn VAR_002679
13 IL2RG p.Gln144Pro VAR_002680
14 IL2RG p.Ile153Asn VAR_002681 rs111033621
15 IL2RG p.Ala156Val VAR_002682
16 IL2RG p.Leu162His VAR_002683
17 IL2RG p.Leu172Pro VAR_002684
18 IL2RG p.Leu172Gln VAR_002685
19 IL2RG p.Cys182Arg VAR_002686
20 IL2RG p.Leu183Ser VAR_002687
21 IL2RG p.Arg224Trp VAR_002689 rs869320658
22 IL2RG p.Arg226Cys VAR_002690 rs869320659
23 IL2RG p.Arg226His VAR_002691 rs869320660
24 IL2RG p.Phe227Cys VAR_002692
25 IL2RG p.Leu230Pro VAR_002693
26 IL2RG p.Cys231Tyr VAR_002694
27 IL2RG p.Gly232Arg VAR_002695
28 IL2RG p.Trp240Cys VAR_002697
29 IL2RG p.Ser241Ile VAR_002698
30 IL2RG p.Met270Arg VAR_002699
31 IL2RG p.Arg285Gln VAR_002701 rs111033617

ClinVar genetic disease variations for Severe Combined Immunodeficiency, X-Linked:

6
(show top 50) (show all 80)
# Gene Variation Type Significance SNP ID Assembly Location
1 IL2RG NM_000206.2(IL2RG): c.355A> T (p.Lys119Ter) single nucleotide variant Pathogenic rs137852507 GRCh37 Chromosome X, 70330453: 70330453
2 IL2RG NM_000206.2(IL2RG): c.355A> T (p.Lys119Ter) single nucleotide variant Pathogenic rs137852507 GRCh38 Chromosome X, 71110603: 71110603
3 IL2RG IL2RG, ARG267TER single nucleotide variant Pathogenic
4 IL2RG NM_000206.2(IL2RG): c.923C> A (p.Ser308Ter) single nucleotide variant Pathogenic rs137852509 GRCh37 Chromosome X, 70328128: 70328128
5 IL2RG NM_000206.2(IL2RG): c.923C> A (p.Ser308Ter) single nucleotide variant Pathogenic rs137852509 GRCh38 Chromosome X, 71108278: 71108278
6 IL2RG NM_000206.2(IL2RG): c.186T> A (p.Cys62Ter) single nucleotide variant Pathogenic rs111033619 GRCh37 Chromosome X, 70330830: 70330830
7 IL2RG NM_000206.2(IL2RG): c.186T> A (p.Cys62Ter) single nucleotide variant Pathogenic rs111033619 GRCh38 Chromosome X, 71110980: 71110980
8 IL2RG NM_000206.2(IL2RG): c.341G> A (p.Gly114Asp) single nucleotide variant Pathogenic rs111033620 GRCh37 Chromosome X, 70330467: 70330467
9 IL2RG NM_000206.2(IL2RG): c.341G> A (p.Gly114Asp) single nucleotide variant Pathogenic rs111033620 GRCh38 Chromosome X, 71110617: 71110617
10 IL2RG IL2RG, IVS3DS, G-A, +1 single nucleotide variant Pathogenic
11 IL2RG NM_000206.2(IL2RG): c.458T> A (p.Ile153Asn) single nucleotide variant Pathogenic rs111033621 GRCh37 Chromosome X, 70330142: 70330142
12 IL2RG NM_000206.2(IL2RG): c.458T> A (p.Ile153Asn) single nucleotide variant Pathogenic rs111033621 GRCh38 Chromosome X, 71110292: 71110292
13 IL2RG NM_000206.2(IL2RG): c.703_711dupCAGCATTGG (p.Trp237_Ser238insGlnHisTrp) duplication Pathogenic rs587776729 GRCh37 Chromosome X, 70329124: 70329132
14 IL2RG NM_000206.2(IL2RG): c.703_711dupCAGCATTGG (p.Trp237_Ser238insGlnHisTrp) duplication Pathogenic rs587776729 GRCh38 Chromosome X, 71109274: 71109282
15 IL2RG NM_000206.2(IL2RG): c.343T> C (p.Cys115Arg) single nucleotide variant Pathogenic rs111033622 GRCh37 Chromosome X, 70330465: 70330465
16 IL2RG NM_000206.2(IL2RG): c.343T> C (p.Cys115Arg) single nucleotide variant Pathogenic rs111033622 GRCh38 Chromosome X, 71110615: 71110615
17 IL2RG NM_000206.2(IL2RG): c.854G> A (p.Arg285Gln) single nucleotide variant Pathogenic rs111033617 GRCh37 Chromosome X, 70328449: 70328449
18 IL2RG NM_000206.2(IL2RG): c.854G> A (p.Arg285Gln) single nucleotide variant Pathogenic rs111033617 GRCh38 Chromosome X, 71108599: 71108599
19 IL2RG NM_000206.2(IL2RG): c.452T> C (p.Leu151Pro) single nucleotide variant Pathogenic rs137852511 GRCh37 Chromosome X, 70330356: 70330356
20 IL2RG NM_000206.2(IL2RG): c.452T> C (p.Leu151Pro) single nucleotide variant Pathogenic rs137852511 GRCh38 Chromosome X, 71110506: 71110506
21 IL2RG NM_000206.2(IL2RG): c.270-1G> T single nucleotide variant Pathogenic/Likely pathogenic rs193922346 GRCh37 Chromosome X, 70330539: 70330539
22 IL2RG NM_000206.2(IL2RG): c.270-1G> T single nucleotide variant Pathogenic/Likely pathogenic rs193922346 GRCh38 Chromosome X, 71110689: 71110689
23 IL2RG NM_000206.2(IL2RG): c.314A> G (p.Tyr105Cys) single nucleotide variant Likely pathogenic rs193922347 GRCh37 Chromosome X, 70330494: 70330494
24 IL2RG NM_000206.2(IL2RG): c.314A> G (p.Tyr105Cys) single nucleotide variant Likely pathogenic rs193922347 GRCh38 Chromosome X, 71110644: 71110644
25 IL2RG NM_000206.2(IL2RG): c.455T> C (p.Val152Ala) single nucleotide variant Pathogenic/Likely pathogenic rs193922348 GRCh37 Chromosome X, 70330145: 70330145
26 IL2RG NM_000206.2(IL2RG): c.455T> C (p.Val152Ala) single nucleotide variant Pathogenic/Likely pathogenic rs193922348 GRCh38 Chromosome X, 71110295: 71110295
27 IL2RG NM_000206.2(IL2RG): c.662T> C (p.Phe221Ser) single nucleotide variant Likely pathogenic rs193922349 GRCh37 Chromosome X, 70329173: 70329173
28 IL2RG NM_000206.2(IL2RG): c.662T> C (p.Phe221Ser) single nucleotide variant Likely pathogenic rs193922349 GRCh38 Chromosome X, 71109323: 71109323
29 IL2RG NM_000206.2(IL2RG): c.710G> A (p.Trp237Ter) single nucleotide variant Likely pathogenic rs193922350 GRCh37 Chromosome X, 70329125: 70329125
30 IL2RG NM_000206.2(IL2RG): c.710G> A (p.Trp237Ter) single nucleotide variant Likely pathogenic rs193922350 GRCh38 Chromosome X, 71109275: 71109275
31 IL2RG NM_000206.2(IL2RG): c.865C> T (p.Arg289Ter) single nucleotide variant Pathogenic rs137852508 GRCh37 Chromosome X, 70328186: 70328186
32 IL2RG NM_000206.2(IL2RG): c.865C> T (p.Arg289Ter) single nucleotide variant Pathogenic rs137852508 GRCh38 Chromosome X, 71108336: 71108336
33 IL2RG NM_000206.2(IL2RG): c.677G> A (p.Arg226His) single nucleotide variant Pathogenic rs869320660 GRCh38 Chromosome X, 71109308: 71109308
34 IL2RG NM_000206.2(IL2RG): c.677G> A (p.Arg226His) single nucleotide variant Pathogenic rs869320660 GRCh37 Chromosome X, 70329158: 70329158
35 IL2RG NM_000206.2(IL2RG): c.676C> T (p.Arg226Cys) single nucleotide variant Pathogenic rs869320659 GRCh37 Chromosome X, 70329159: 70329159
36 IL2RG NM_000206.2(IL2RG): c.676C> T (p.Arg226Cys) single nucleotide variant Pathogenic rs869320659 GRCh38 Chromosome X, 71109309: 71109309
37 IL2RG NM_000206.2(IL2RG): c.670C> T (p.Arg224Trp) single nucleotide variant Pathogenic rs869320658 GRCh37 Chromosome X, 70329165: 70329165
38 IL2RG NM_000206.2(IL2RG): c.670C> T (p.Arg224Trp) single nucleotide variant Pathogenic rs869320658 GRCh38 Chromosome X, 71109315: 71109315
39 IL2RG NM_000206.2(IL2RG): c.47T> C (p.Leu16Pro) single nucleotide variant Likely pathogenic rs879253742 GRCh38 Chromosome X, 71111493: 71111493
40 IL2RG NM_000206.2(IL2RG): c.47T> C (p.Leu16Pro) single nucleotide variant Likely pathogenic rs879253742 GRCh37 Chromosome X, 70331343: 70331343
41 IL2RG NM_000206.2(IL2RG): c.270-15A> G single nucleotide variant Pathogenic rs886039387 GRCh37 Chromosome X, 70330553: 70330553
42 IL2RG NM_000206.2(IL2RG): c.270-15A> G single nucleotide variant Pathogenic rs886039387 GRCh38 Chromosome X, 71110703: 71110703
43 IL2RG NM_000206.2(IL2RG): c.758-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs886042051 GRCh37 Chromosome X, 70328546: 70328546
44 IL2RG NM_000206.2(IL2RG): c.758-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs886042051 GRCh38 Chromosome X, 71108696: 71108696
45 IL2RG NM_000206.2(IL2RG): c.325G> A (p.Glu109Lys) single nucleotide variant Benign/Likely benign rs17875899 GRCh37 Chromosome X, 70330483: 70330483
46 IL2RG NM_000206.2(IL2RG): c.325G> A (p.Glu109Lys) single nucleotide variant Benign/Likely benign rs17875899 GRCh38 Chromosome X, 71110633: 71110633
47 IL2RG NM_000206.2(IL2RG): c.202G> A (p.Glu68Lys) single nucleotide variant Pathogenic/Likely pathogenic rs1057520644 GRCh37 Chromosome X, 70330814: 70330814
48 IL2RG NM_000206.2(IL2RG): c.202G> A (p.Glu68Lys) single nucleotide variant Pathogenic/Likely pathogenic rs1057520644 GRCh38 Chromosome X, 71110964: 71110964
49 IL2RG NM_000206.2(IL2RG): c.982C> T (p.Arg328Ter) single nucleotide variant Likely pathogenic rs1064793347 GRCh38 Chromosome X, 71107864: 71107864
50 IL2RG NM_000206.2(IL2RG): c.982C> T (p.Arg328Ter) single nucleotide variant Likely pathogenic rs1064793347 GRCh37 Chromosome X, 70327714: 70327714
Sources

Expression for Severe Combined Immunodeficiency, X-Linked

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Search GEO for disease gene expression data for Severe Combined Immunodeficiency, X-Linked.
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Pathways for Severe Combined Immunodeficiency, X-Linked

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Pathways related to Severe Combined Immunodeficiency, X-Linked according to GeneCards Suite gene sharing:

(show all 43)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 66
Show member pathways
 13.82 IL2 IL2RG IL4 IL7 IL7R IL9
2
ERK Signaling 64
Show member pathways
 13.69 IL2 IL21 IL2RG IL4 IL7 IL7R
3
PEDF Induced Signaling 64
Show member pathways
 13.49 IL2 IL21 IL2RG IL4 IL7 IL7R
4
TGF-Beta Pathway 64
Show member pathways
 13.36 IL2 IL2RG IL4 IL7 IL7R IL9
5
Cytokine Signaling in Immune system 66
Show member pathways
 13.21 IL2 IL2RG IL4 IL7 IL7R IL9
6
Akt Signaling 64
Show member pathways
 13.18 IL2 IL21 IL2RG IL4 IL7 IL7R
7
PAK Pathway 64
Show member pathways
 13.12 IL2 IL21 IL2RG IL4 IL7 IL7R
8
PI3K-Akt signaling pathway 37
Show member pathways
 12.84 IL2 IL2RG IL4 IL7 IL7R JAK3
9
Allograft rejection 1 37
Show member pathways
 12.71 IL2 IL21 IL4 IL9
10
Pathways in cancer 37
12.69 IL2 IL2RG IL4 IL7 IL7R JAK3
11
IL-2 Pathway 64
Show member pathways
 12.65 IL2 IL2RG IL4 JAK3
12
Influenza A 37
Show member pathways
 12.65 IL2 IL2RG IL4 JAK3
13
NF-kappaB Signaling 4
12.38 IL2 IL4 JAK3
14
Th17 cell differentiation 37
Show member pathways
 12.34 IL2 IL21 IL2RG IL4 JAK3
15
Common Cytokine Receptor Gamma-Chain Family Signaling Pathways 65
Show member pathways
 12.33 IL2 IL21 IL2RG IL4 IL7 IL7R
16
T cell receptor signaling pathway 37
Show member pathways
 12.27 IL2 IL4 IL9
17
HTLV-I infection 37
12.26 IL2 IL2RG JAK3
18
Th1 Differentiation Pathway 65
Show member pathways
 12.2 IL2 IL21 IL2RG JAK3
19
Immune response Antigen presentation by MHC class II 22
Show member pathways
 12.06 IL2 IL2RG JAK3
20
G beta-gamma signalling through PI3Kgamma 66
Show member pathways
 12.03 IL2 IL2RG JAK3
21
IL-2 Signaling Pathway 1
Show member pathways
 11.96 IL2 IL2RG JAK3
22
Immune response IFN gamma signaling pathway 22
Show member pathways
 11.95 IL2 IL2RG IL4 IL7 IL7R IL9
23
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 65
11.93 IL2 IL4 IL7 IL7R
24
Interleukin-4 and 13 signaling 66
11.88 IL2RG IL4 JAK3
25
IL12-mediated signaling events 1
Show member pathways
 11.87 IL2 IL2RG IL4
26
Immune response IL-2 activation and signaling pathway 22
Show member pathways
 11.86 IL2 IL2RG JAK3
27
Jak-Stat Signaling Pathway 67
11.84 IL2 IL21 IL7R JAK3
28
Regulation of IFNA signaling 66
Show member pathways
 11.82 IL2 IL21 IL2RG IL4 IL7 IL7R
29
Hematopoietic cell lineage 37
11.8 IL4 IL7 IL7R
30
Cytokine production by Th17 cells in CF (Mouse model) 22
Show member pathways
 11.78 IL21 IL2RG JAK3
31
Innate Lymphoid Cell Differentiation Pathways 65
11.62 IL2 IL4 IL7 IL7R IL9
32
IL4-mediated signaling events 1
11.6 IL2RG IL4 JAK3
33
IL2 signaling events mediated by PI3K 1
Show member pathways
 11.6 IL2 IL2RG IL4 JAK3
34
B Cell Development Pathways 65
11.41 IL21 IL7R
35
IL-7 Signaling Pathway 1
Show member pathways
 11.32 IL2RG IL7 IL7R IL9 JAK3
36
Inflammatory Response Pathway 1
11.31 IL2 IL2RG IL4
37
Development and heterogeneity of the ILC family 1
11.29 IL4 IL7 IL9
38
Primary immunodeficiency 37
11.27 ADA IL2RG IL7R JAK3
39
Cytokines and Inflammatory Response 1
11.24 IL2 IL4 IL7
40
Th2 Differentiation Pathway 65
11.22 IL2 IL2RG IL4 IL9 JAK3
41
OX40 Pathway 64
11.17 IL2 IL4 IL9
42
CD40/CD40L signaling 1
11.15 IL4 JAK3
43
Interleukin-7 signaling 66
11.12 IL2RG IL7 IL7R JAK3
Sources

GO Terms for Severe Combined Immunodeficiency, X-Linked

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Cellular components related to Severe Combined Immunodeficiency, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.43 IL2 IL21 IL4 IL7 IL7R IL9
2 external side of plasma membrane GO:0009897 9.33 ADA IL2RG IL7R
3 extracellular space GO:0005615 9.1 ADA IL2 IL21 IL4 IL7 IL9

Biological processes related to Severe Combined Immunodeficiency, X-Linked according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.89 ADA IL2 IL4 IL7
2 positive regulation of cell proliferation GO:0008284 9.89 IL2 IL21 IL7 IL7R IL9
3 regulation of signaling receptor activity GO:0010469 9.88 IL2 IL21 IL4 IL7 IL9
4 cytokine-mediated signaling pathway GO:0019221 9.8 IL2 IL2RG IL4 IL7 IL7R JAK3
5 regulation of molecular function GO:0065009 9.79 IL2 IL2RG JAK3
6 MAPK cascade GO:0000165 9.78 IL2 IL2RG JAK3
7 positive regulation of T cell proliferation GO:0042102 9.73 IL2 IL21 IL4 JAK3
8 immune response GO:0006955 9.7 IL2 IL21 IL2RG IL4 IL7 IL7R
9 interleukin-2-mediated signaling pathway GO:0038110 9.63 IL2 IL2RG JAK3
10 T cell activation GO:0042110 9.62 ADA IL4
11 T cell differentiation GO:0030217 9.6 IL2 IL7R
12 interleukin-15-mediated signaling pathway GO:0035723 9.58 IL2RG JAK3
13 positive regulation of interleukin-17 production GO:0032740 9.58 IL2 IL21
14 interleukin-21-mediated signaling pathway GO:0038114 9.58 IL21 IL2RG JAK3
15 positive regulation of T cell differentiation in thymus GO:0033089 9.57 ADA IL7R
16 positive regulation of isotype switching to IgG isotypes GO:0048304 9.56 IL2 IL4
17 interleukin-7-mediated signaling pathway GO:0038111 9.56 IL2RG IL7 IL7R JAK3
18 tyrosine phosphorylation of STAT protein GO:0007260 9.55 IL21 JAK3
19 negative regulation of thymocyte apoptotic process GO:0070244 9.54 ADA JAK3
20 interleukin-9-mediated signaling pathway GO:0038113 9.54 IL2RG IL9 JAK3
21 positive regulation of tissue remodeling GO:0034105 9.52 IL2 IL21
22 interleukin-4-mediated signaling pathway GO:0035771 9.51 IL2RG JAK3
23 positive regulation of T cell differentiation GO:0045582 9.26 ADA IL2 IL4 IL7
24 positive regulation of B cell proliferation GO:0030890 9.02 ADA IL2 IL21 IL4 IL7

Molecular functions related to Severe Combined Immunodeficiency, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.56 IL2 IL4 IL7 IL9
2 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.54 IL2 IL2RG JAK3
3 cytokine receptor activity GO:0004896 9.4 IL2RG IL7R
4 cytokine activity GO:0005125 9.35 IL2 IL21 IL4 IL7 IL9
5 interleukin-2 receptor binding GO:0005134 9.32 IL2 IL21
6 interleukin-7 receptor activity GO:0004917 9.16 IL2RG IL7R
7 cytokine receptor binding GO:0005126 8.92 IL21 IL4 IL7 IL9
Sources

Sources for Severe Combined Immunodeficiency, X-Linked

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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