Immunodeficiency 18 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

IMD18 MCID: IMM082 MIFTS: 42	Immunodeficiency 18 (IMD18) Categories: Bone diseases, Genetic diseases, Immune diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Immunodeficiency 18

MalaCards integrated aliases for Immunodeficiency 18:

Name: Immunodeficiency 18 ⁵⁷ ⁷⁵ ²⁹ ⁶ ⁷³

Immunodeficiency 18, Severe Combined Immunodeficiency Variant ⁷⁵ ²⁹ ⁶

Immunodeficiency 18, Scid Variant ⁵⁷ ⁷⁵

Cd3-Epsilon Deficiency ⁵⁷ ⁷⁵

Cd3epsilon Deficiency ¹² ¹⁵

Imd18 ⁵⁷ ⁷⁵

Immunodeficiency, Type 18 ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity
two unrelated families have been reported (last curated january 2014)

HPO:

³²

immunodeficiency 18:
Onset and clinical course variable expressivity infantile onset
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Immune diseases Bone diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 615615

Disease Ontology ¹² DOID:0060017

MedGen ⁴² C3810127 CN184330 CN184333

MeSH ⁴⁴ D007153

SNOMED-CT via HPO ⁶⁹ 258211005 48813009 234532001

UMLS ⁷³ C3810127

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Summaries for Immunodeficiency 18

OMIM : ⁵⁷ Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. The severity is variable, encompassing both a mild immunodeficiency and severe combined immunodeficiency (SCID), resulting in early death without bone marrow transplantation in some patients. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18 (summary by de Saint Basile et al., 2004). (615615)

MalaCards based summary : Immunodeficiency 18, also known as immunodeficiency 18, severe combined immunodeficiency variant, is related to t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta and immunodeficiency 19. An important gene associated with Immunodeficiency 18 is CD3E (CD3e Molecule), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and TCR Signaling (Qiagen). Affiliated tissues include t cells, bone and b cells, and related phenotypes are recurrent respiratory infections and immunodeficiency

Disease Ontology : ¹² A severe combined immunodeficiency that has material basis in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect in the expression of the T-cell receptor CD3-complex.

UniProtKB/Swiss-Prot : ⁷⁵ Immunodeficiency 18: An autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. The severity is variable, encompassing both a mild immunodeficiency and severe combined immunodeficiency (SCID), resulting in early death without bone marrow transplantation in some patients. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18.

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Related Diseases for Immunodeficiency 18

Diseases related to Immunodeficiency 18 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)

#	Related Disease	Score	Top Affiliating Genes
1	t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta	10.1	CD3D CD3E
2	immunodeficiency 19	10.1	CD3D CD3G
3	granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii	10.0	CD3D CD3G
4	severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive	9.9	CD3D PTPRC
5	small intestine lymphoma	9.9	CD3E PTPRC
6	t cell deficiency	9.9	CD3G PTPRC
7	acute t cell leukemia	9.8	LMO1 TAL1
8	follicular mucinosis	9.8	PTCRA PTPRC
9	melkersson-rosenthal syndrome	9.8	PTCRA PTPRC
10	severe combined immunodeficiency	9.8	CD3D CD3E PTPRC
11	immunodeficiency 17	9.8	CD3D CD3G PTPRC
12	precursor t-cell acute lymphoblastic leukemia	9.8	LMO1 PTCRA TAL1
13	lymphoblastic lymphoma	9.7	PTPRC TAL1
14	good syndrome	9.7
15	thymoma	9.7

Graphical network of the top 20 diseases related to Immunodeficiency 18:

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Symptoms & Phenotypes for Immunodeficiency 18

Symptoms via clinical synopsis from OMIM:

⁵⁷

Respiratory:
respiratory infections, recurrent

Head And Neck Ears:
otitis media, recurrent

Immunology:
primary immunodeficiency
normal b cells
decreased cd3 expression on t cells
decreased cytotoxic t cell activity
variably impaired t-cell proliferative responses
more

Abdomen Gastrointestinal:
gastroenteritis, recurrent

Clinical features from OMIM:

615615

Human phenotypes related to Immunodeficiency 18:

³² (show all 7)

#	Description	HPO Frequency	HPO Source Accession
1	recurrent respiratory infections ³²		HP:0002205
2	immunodeficiency ³²		HP:0002721
3	recurrent otitis media ³²		HP:0000403
4	lymphopenia ³²	very rare (1%)	HP:0001888
5	defective t cell proliferation ³²	occasional (7.5%)	HP:0030253
6	recurrent gastroenteritis ³²		HP:0031123
7	decreased proportion of cd3-positive t cells ³²		HP:0045080

MGI Mouse Phenotypes related to Immunodeficiency 18:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hematopoietic system	MP:0005397	9.43	CD3D CD3E CD3G PTCRA PTPRC TAL1
2	immune system	MP:0005387	9.1	CD3D CD3E CD3G PTCRA PTPRC TAL1

Sources

Drugs & Therapeutics for Immunodeficiency 18

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 18

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Genetic Tests for Immunodeficiency 18

Genetic tests related to Immunodeficiency 18:

#	Genetic test	Affiliating Genes
1	Immunodeficiency 18, Severe Combined Immunodeficiency Variant ²⁹
2	Immunodeficiency 18 ²⁹	CD3E

Sources

Anatomical Context for Immunodeficiency 18

MalaCards organs/tissues related to Immunodeficiency 18:

⁴¹

T Cells, Bone, B Cells, Nk Cells, Bone Marrow, Small Intestine

Sources

Publications for Immunodeficiency 18

Articles related to Immunodeficiency 18:

#	Title	Authors	Year
1	Thymoma and immunodeficiency: (18)F-FDG-PET/CT imaging of Good syndrome. ( 23687646 )	Kelly A....Guettrot-Imbert G.	2013

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Genes for Immunodeficiency 18

Genes related to Immunodeficiency 18 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CD3E	CD3e Molecule	Protein Coding	1034.53	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	1370449 1676369 8490660 (more) 15546002
2	CD3D	CD3d Molecule	Protein Coding	16.85	DISEASES inferred ¹⁵
3	CD3G	CD3g Molecule	Protein Coding	16.25	DISEASES inferred ¹⁵
4	TAL1	TAL BHLH Transcription Factor 1, Erythroid Differentiation Factor	Protein Coding	15.48	DISEASES inferred ¹⁵
5	LMO1	LIM Domain Only 1	Protein Coding	14.63	DISEASES inferred ¹⁵
6	PTPRC	Protein Tyrosine Phosphatase, Receptor Type C	Protein Coding	13.85	DISEASES inferred ¹⁵
7	PTCRA	Pre T Cell Antigen Receptor Alpha	Protein Coding	13.1	DISEASES inferred ¹⁵

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Variations for Immunodeficiency 18

ClinVar genetic disease variations for Immunodeficiency 18:

⁶ (show all 30)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	CD3E	NM_000733.3(CD3E): c.520+2T> C	single nucleotide variant	Pathogenic	rs483352928	GRCh37	Chromosome 11, 118184591: 118184591
2	CD3E	NM_000733.3(CD3E): c.520+2T> C	single nucleotide variant	Pathogenic	rs483352928	GRCh38	Chromosome 11, 118313876: 118313876
3	CD3E	NM_000733.3(CD3E): c.176G> A (p.Trp59Ter)	single nucleotide variant	Pathogenic	rs121918659	GRCh37	Chromosome 11, 118183405: 118183405
4	CD3E	NM_000733.3(CD3E): c.176G> A (p.Trp59Ter)	single nucleotide variant	Pathogenic	rs121918659	GRCh38	Chromosome 11, 118312690: 118312690
5	CD3E	NM_000733.3(CD3E): c.128_129delCC (p.Thr43Asnfs)	deletion	Pathogenic	rs483352929	GRCh37	Chromosome 11, 118183357: 118183358
6	CD3E	NM_000733.3(CD3E): c.128_129delCC (p.Thr43Asnfs)	deletion	Pathogenic	rs483352929	GRCh38	Chromosome 11, 118312642: 118312643
7	CD3E	NM_000733.3(CD3E): c.498G> A (p.Ala166=)	single nucleotide variant	Benign/Likely benign	rs78373007	GRCh37	Chromosome 11, 118184567: 118184567
8	CD3E	NM_000733.3(CD3E): c.498G> A (p.Ala166=)	single nucleotide variant	Benign/Likely benign	rs78373007	GRCh38	Chromosome 11, 118313852: 118313852
9	CD3E	NM_000733.3(CD3E): c.507C> T (p.Gly169=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs2231447	GRCh37	Chromosome 11, 118184576: 118184576
10	CD3E	NM_000733.3(CD3E): c.507C> T (p.Gly169=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs2231447	GRCh38	Chromosome 11, 118313861: 118313861
11	CD3E	NM_000733.3(CD3E): c.216T> C (p.Asp72=)	single nucleotide variant	Benign/Likely benign	rs2231444	GRCh38	Chromosome 11, 118312730: 118312730
12	CD3E	NM_000733.3(CD3E): c.216T> C (p.Asp72=)	single nucleotide variant	Benign/Likely benign	rs2231444	GRCh37	Chromosome 11, 118183445: 118183445
13	CD3E	NM_000733.3(CD3E): c.103C> T (p.Pro35Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs143949187	GRCh38	Chromosome 11, 118312170: 118312170
14	CD3E	NM_000733.3(CD3E): c.103C> T (p.Pro35Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs143949187	GRCh37	Chromosome 11, 118182885: 118182885
15	CD3E	NM_000733.3(CD3E): c.211G> C (p.Asp71His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs148647954	GRCh37	Chromosome 11, 118183440: 118183440
16	CD3E	NM_000733.3(CD3E): c.211G> C (p.Asp71His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs148647954	GRCh38	Chromosome 11, 118312725: 118312725
17	CD3E	NM_000733.3(CD3E): c.54C> T (p.Gly18=)	single nucleotide variant	Benign	rs1126924	GRCh38	Chromosome 11, 118307292: 118307292
18	CD3E	NM_000733.3(CD3E): c.54C> T (p.Gly18=)	single nucleotide variant	Benign	rs1126924	GRCh37	Chromosome 11, 118178007: 118178007
19	CD3E	NM_000733.3(CD3E): c.580G> A (p.Gly194Ser)	single nucleotide variant	Uncertain significance	rs141553540	GRCh37	Chromosome 11, 118186213: 118186213
20	CD3E	NM_000733.3(CD3E): c.580G> A (p.Gly194Ser)	single nucleotide variant	Uncertain significance	rs141553540	GRCh38	Chromosome 11, 118315498: 118315498
21	CD3E	NM_000733.3(CD3E): c.323C> T (p.Ala108Val)	single nucleotide variant	Benign	rs35299792	GRCh37	Chromosome 11, 118183552: 118183552
22	CD3E	NM_000733.3(CD3E): c.323C> T (p.Ala108Val)	single nucleotide variant	Benign	rs35299792	GRCh38	Chromosome 11, 118312837: 118312837
23	CD3E	NM_000733.3(CD3E): c.49+3G> A	single nucleotide variant	Uncertain significance	rs202200315	GRCh37	Chromosome 11, 118175719: 118175719
24	CD3E	NM_000733.3(CD3E): c.49+3G> A	single nucleotide variant	Uncertain significance	rs202200315	GRCh38	Chromosome 11, 118305004: 118305004
25	CD3E	NM_000733.3(CD3E): c.353-5C> A	single nucleotide variant	Uncertain significance	rs374456909	GRCh37	Chromosome 11, 118184417: 118184417
26	CD3E	NM_000733.3(CD3E): c.353-5C> A	single nucleotide variant	Uncertain significance	rs374456909	GRCh38	Chromosome 11, 118313702: 118313702
27	CD3E	NM_000733.3(CD3E): c.567+10G> T	single nucleotide variant	Uncertain significance	rs920180688	GRCh38	Chromosome 11, 118314504: 118314504
28	CD3E	NM_000733.3(CD3E): c.567+10G> T	single nucleotide variant	Uncertain significance	rs920180688	GRCh37	Chromosome 11, 118185219: 118185219
29	CD3E	NM_000733.3(CD3E): c.103+1G> T	single nucleotide variant	Likely pathogenic	rs201543770	GRCh38	Chromosome 11, 118312171: 118312171
30	CD3E	NM_000733.3(CD3E): c.103+1G> T	single nucleotide variant	Likely pathogenic	rs201543770	GRCh37	Chromosome 11, 118182886: 118182886

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Expression for Immunodeficiency 18

Search GEO for disease gene expression data for Immunodeficiency 18.

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Pathways for Immunodeficiency 18

Pathways related to Immunodeficiency 18 according to GeneCards Suite gene sharing:

(show all 40)

#	Super pathways	Score	Top Affiliating Genes
1	Class I MHC mediated antigen processing and presentation ⁶⁶ Show member pathways Adaptive Immune System ⁶⁶ Antigen processing- Ubiquitination and Proteasome degradation ⁶⁶	13.16	CD3D CD3E CD3G PTPRC
2	TCR Signaling (Qiagen) ⁶⁴ Show member pathways Fc-EpsilonRI Pathway ⁶⁴ ITK and TCR Signaling ⁶⁴ PDGF Pathway ⁶⁴ PKC-Theta Pathway ⁶⁴	12.71	CD3D CD3E CD3G PTPRC
3	Allograft rejection ¹ ³⁷ Show member pathways Antigen processing and presentation ³⁷ Asthma ³⁷ Autoimmune thyroid disease ³⁷ CTL Mediated Apoptosis ⁶⁴ Graft-versus-host disease ³⁷ Intestinal immune network for IgA production ³⁷ THC Differentiation Pathway ⁶⁴ Type I diabetes mellitus ³⁷ Viral myocarditis ³⁷	12.66	CD3D CD3E CD3G PTPRC
4	CCR5 Pathway in Macrophages ⁶⁴ Show member pathways Androgen Signaling ⁶⁴ Chemokine Signaling ⁶⁴ Chemokine signaling pathway ³⁷	12.61	CD3D CD3E CD3G
5	Influenza A ³⁷ Show member pathways Herpes simplex infection ³⁷ Measles ³⁷	12.54	CD3D CD3E CD3G
6	Immune response NFAT in immune response ²² Show member pathways Immune response CD28 signaling ²² Immune response ICOS pathway in T-helper cell ²² Immune response T cell receptor signaling pathway ²²	12.42	CD3D CD3E CD3G PTPRC
7	Th17 cell differentiation ³⁷ Show member pathways IL-22 Pathway ⁶⁴ Immune response IL-22 signaling pathway ²² Inflammatory bowel disease (IBD) ³⁷ Th1 and Th2 cell differentiation ³⁷	12.38	CD3D CD3E CD3G
8	NF-kappaB Signaling ⁴	12.35	CD3E PTPRC TAL1
9	Development EGFR signaling pathway ²² Show member pathways Development ERBB-family signaling ²² EGF Pathway ⁶⁴ EGFR Signaling Pathway ⁶⁷ ErbB receptor signaling network ¹	12.32	CD3D CD3E CD3G
10	Antigen processing-Cross presentation ⁶⁶ Show member pathways Cross-presentation of particulate exogenous antigens (phagosomes) ⁶⁶ Endosomal/Vacuolar pathway ⁶⁶ ER-Phagosome pathway ⁶⁶ Immune response Antigen presentation by MHC class I ²²	12.27	CD3D CD3E CD3G
11	Human T-cell leukemia virus 1 infection ³⁷	12.23	CD3D CD3E CD3G
12	T cell receptor signaling pathway ³⁷ Show member pathways T-Cell antigen Receptor (TCR) Signaling Pathway ¹ T-Cell antigen Receptor (TCR) pathway during Staphylococcus aureus infection ¹	12.22	CD3D CD3E CD3G PTPRC
13	ICos-ICosL Pathway in T-Helper Cell ⁶⁴ Show member pathways Calcium Mediated T-Cell Apoptosis ⁶⁴ CD28 Signaling in T-Helper Cell ⁶⁴	12.18	CD3D CD3E CD3G PTPRC
14	Epstein-Barr virus infection ³⁷	12.12	CD3D CD3E CD3G
15	TCR signaling (REACTOME) ⁶⁶ Show member pathways Downstream TCR signaling ⁶⁶	12.11	CD3D CD3E CD3G PTPRC
16	B Cell Receptor Signaling Pathway (sino) ⁶⁷ Show member pathways T Cell Receptor Signaling Pathway ⁶⁷	12.06	CD3D CD3E CD3G PTPRC
17	CD28 co-stimulation ⁶⁶ Show member pathways Activation of AKT2 ⁶⁶ CD28 dependent PI3K/Akt signaling ⁶⁶ CD28 dependent Vav1 pathway ⁶⁶ Costimulation by the CD28 family ⁶⁶ VEGFR2 mediated vascular permeability ⁶⁶	12.03	CD3D CD3E CD3G
18	Immune response Function of MEF2 in T lymphocytes ²² Show member pathways Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis ²²	11.95	CD3D CD3E CD3G
19	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell ⁶⁶	11.9	CD3D CD3E CD3G
20	IL12-mediated signaling events ¹ Show member pathways Immune response IL-12-induced IFN-gamma production ²²	11.81	CD3D CD3E CD3G
21	Reelin Pathway (Cajal-Retzius cells) ⁶⁴	11.78	CD3D CD3E CD3G
22	G-protein signaling N-RAS regulation pathway ²² Show member pathways Immune response Antigen presentation by MHC class II ²²	11.77	CD3D CD3E CD3G
23	S-1P Stimulated Signaling ⁶⁴	11.77	CD3D CD3E CD3G
24	Hematopoietic cell lineage ³⁷	11.73	CD3D CD3E CD3G
25	Signal transduction_Erk Interactions- Inhibition of Erk ²²	11.59	CD3D CD3E CD3G
26	CTLA4 Signaling ⁶⁴	11.56	CD3D CD3E CD3G
27	Dendritic Cells Developmental Lineage Pathway ⁶⁵	11.54	CD3E PTPRC
28	NF-kB (NFkB) Pathway ⁶⁷	11.53	CD3E CD3G
29	Downstream signaling in naive CD8+ T cells ¹ Show member pathways Ras signaling in the CD4+ TCR pathway ¹	11.49	CD3D CD3E CD3G
30	Translocation of ZAP-70 to Immunological synapse ⁶⁶ Show member pathways Generation of second messenger molecules ⁶⁶ PD-1 signaling ⁶⁶ Phosphorylation of CD3 and TCR zeta chains ⁶⁶	11.49	CD3D CD3E CD3G PTPRC
31	G-protein signaling_Regulation of RAC1 activity ²²	11.46	CD3D CD3E CD3G
32	IL-2 Gene Expression in Activated and Quiescent T-Cells ⁶⁴ Show member pathways TOB in T-Cell Signaling ⁶⁴	11.45	CD3D CD3E CD3G
33	B Cell Development Pathways ⁶⁵	11.39	CD3E PTPRC
34	G-protein signaling_Rap1A regulation pathway ²²	11.35	CD3D CD3E CD3G
35	TCR signaling in naive CD4+ T cells ¹ Show member pathways TCR signaling in naive CD8+ T cells ¹	11.29	CD3D CD3E CD3G PTPRC
36	DNA damage_Role of Brca1 and Brca2 in DNA repair ²²	11.27	CD3D CD3E CD3G PTPRC
37	Primary immunodeficiency ³⁷	11.15	CD3D CD3E PTPRC
38	Nur77 Signaling in T-Cell ⁶⁴	11.04	CD3D CD3E CD3G
39	IL12 signaling mediated by STAT4 ¹	10.88	CD3D CD3E CD3G
40	CXCR4-mediated signaling events ¹	10.81	CD3D CD3E CD3G PTPRC

Sources

GO Terms for Immunodeficiency 18

Cellular components related to Immunodeficiency 18 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	external side of plasma membrane	GO:0009897	9.46	CD3D CD3E CD3G PTPRC
2	clathrin-coated vesicle membrane	GO:0030665	9.26	CD3D CD3G
3	T cell receptor complex	GO:0042101	9.13	CD3D CD3E CD3G
4	alpha-beta T cell receptor complex	GO:0042105	8.8	CD3D CD3E CD3G

Biological processes related to Immunodeficiency 18 according to GeneCards Suite gene sharing:

(show all 14)

#	Name	GO ID	Score	Top Affiliating Genes
1	adaptive immune response	GO:0002250	9.69	CD3D CD3E CD3G
2	regulation of immune response	GO:0050776	9.67	CD3D CD3E CD3G
3	protein homooligomerization	GO:0051260	9.65	CD3D CD3E CD3G
4	cell surface receptor signaling pathway	GO:0007166	9.62	CD3D CD3E CD3G PTPRC
5	positive regulation of peptidyl-tyrosine phosphorylation	GO:0050731	9.54	CD3E PTPRC
6	positive regulation of T cell proliferation	GO:0042102	9.52	CD3E PTPRC
7	regulation of hematopoietic stem cell differentiation	GO:1902036	9.46	LMO1 TAL1
8	T cell receptor signaling pathway	GO:0050852	9.46	CD3D CD3E CD3G PTPRC
9	positive regulation of interleukin-2 biosynthetic process	GO:0045086	9.43	CD3E PTPRC
10	T cell activation	GO:0042110	9.43	CD3E CD3G PTPRC
11	negative thymic T cell selection	GO:0045060	9.4	CD3E PTPRC
12	positive regulation of alpha-beta T cell proliferation	GO:0046641	9.37	CD3E PTPRC
13	T cell differentiation	GO:0030217	9.26	CD3D CD3E CD3G PTPRC
14	positive thymic T cell selection	GO:0045059	8.92	CD3D CD3E CD3G PTPRC

Molecular functions related to Immunodeficiency 18 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein homodimerization activity	GO:0042803	9.62	CD3D CD3E CD3G PTPRC
2	transmembrane signaling receptor activity	GO:0004888	9.43	CD3D CD3E CD3G
3	protein heterodimerization activity	GO:0046982	9.26	CD3D CD3E CD3G TAL1
4	receptor signaling complex scaffold activity	GO:0030159	9.16	CD3E CD3G
5	T cell receptor binding	GO:0042608	8.62	CD3E CD3G

Sources

Sources for Immunodeficiency 18

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Immunodeficiency 18 (IMD18)

Aliases & Classifications for Immunodeficiency 18

MalaCards integrated aliases for Immunodeficiency 18:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Immunodeficiency 18

Related Diseases for Immunodeficiency 18

Diseases related to Immunodeficiency 18 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Immunodeficiency 18:

Symptoms & Phenotypes for Immunodeficiency 18

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Immunodeficiency 18:

MGI Mouse Phenotypes related to Immunodeficiency 18:

Drugs & Therapeutics for Immunodeficiency 18

Genetic Tests for Immunodeficiency 18

Genetic tests related to Immunodeficiency 18:

Anatomical Context for Immunodeficiency 18

MalaCards organs/tissues related to Immunodeficiency 18:

Publications for Immunodeficiency 18

Articles related to Immunodeficiency 18:

Genes for Immunodeficiency 18

Genes related to Immunodeficiency 18 (1 elite genes):

Variations for Immunodeficiency 18

ClinVar genetic disease variations for Immunodeficiency 18:

Expression for Immunodeficiency 18

Pathways for Immunodeficiency 18

Pathways related to Immunodeficiency 18 according to GeneCards Suite gene sharing:

GO Terms for Immunodeficiency 18

Cellular components related to Immunodeficiency 18 according to GeneCards Suite gene sharing:

Biological processes related to Immunodeficiency 18 according to GeneCards Suite gene sharing:

Molecular functions related to Immunodeficiency 18 according to GeneCards Suite gene sharing:

Sources for Immunodeficiency 18