Immunodeficiency 19 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: IMM081 MIFTS: 40	Immunodeficiency 19 Categories: Genetic diseases, Immune diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Download Expand all tables

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Aliases & Classifications for Immunodeficiency 19

MalaCards integrated aliases for Immunodeficiency 19:

Name: Immunodeficiency 19 ⁵⁷ ⁷⁵ ²⁹ ⁶ ⁷³

Cd3-Delta Deficiency ⁵⁷ ⁷⁵

Cd3delta Deficiency ¹² ¹⁵

Imd19 ⁵⁷ ⁷⁵

Severe Combined Immunodeficiency, T Cell-Negative, B Cell-Positive, Nk Cell-Positive ⁵⁷

T Cell-Negative, B Cell-Positive, Nk Cell-Positive Severe Combined Immunodeficiency ⁷⁵

Scid, T Cell-Negative, B Cell-Positive, Nk Cell-Positive ⁵⁷

T Cell-Negative, B Cell-Positive, Nk Cell-Positive Scid ⁷⁵

Immunodeficiency, Type 19 ⁴⁰

Cd3d ¹²

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
death in infancy without bone marrow transplantation

HPO:

³²

immunodeficiency 19:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Immune diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 615617

Disease Ontology ¹² DOID:0060016

MedGen ⁴² C3810147 CN184331

MeSH ⁴⁴ D007153

SNOMED-CT via HPO ⁶⁹ 258211005 36440009 432788009 more

UMLS ⁷³ C3810147

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Summaries for Immunodeficiency 19

OMIM : ⁵⁷ Immunodeficiency-19 (IMD19) is an autosomal recessive form of severe combined immunodeficiency (SCID) characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections. Patients usually have chronic diarrhea, recurrent respiratory infections, and failure to thrive. Immunologic work-up shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype. The disorder is lethal in early childhood without bone marrow transplantation (summary by Yu et al., 2011). (615617)

MalaCards based summary : Immunodeficiency 19, also known as cd3-delta deficiency, is related to severe combined immunodeficiency and combined immunodeficiency, x-linked, and has symptoms including diarrhea An important gene associated with Immunodeficiency 19 is CD3D (CD3d Molecule), and among its related pathways/superpathways are Innate Immune System and GPCR Pathway. Affiliated tissues include b cells, t cells and nk cells, and related phenotypes are recurrent otitis media and failure to thrive

UniProtKB/Swiss-Prot : ⁷⁵ Immunodeficiency 19: An autosomal recessive form of severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections. Patients usually have chronic diarrhea, recurrent respiratory infections, and failure to thrive. Immunologic work-up shows a T-cell negative, B-cell positive, NK-cell positive phenotype.

Disease Ontology : ¹² A severe combined immunodeficiency that is characterized by the absence of T cells but normal numbers of B cells. CD3D is essential for T cell development.

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Related Diseases for Immunodeficiency 19

Diseases related to Immunodeficiency 19 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	severe combined immunodeficiency	28.1	CD3D JAK3 ZAP70
2	combined immunodeficiency, x-linked	27.3	CD3D CD3G JAK3 ZAP70
3	immunodeficiency 49	11.9
4	severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive	11.7
5	immunodeficiency 18	9.9	CD3D CD3G
6	immunodeficiency 17	9.7	CD3D CD3G
7	immune defect due to absence of thymus	9.6	CD3G ZAP70
8	t cell deficiency	9.2	CD3G ZAP70

Graphical network of the top 20 diseases related to Immunodeficiency 19:

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Symptoms & Phenotypes for Immunodeficiency 19

Symptoms via clinical synopsis from OMIM:

⁵⁷

Growth Other:
failure to thrive

Abdomen Gastrointestinal:
diarrhea
gastroenteritis

Head And Neck Ears:
otitis media, recurrent

Immunology:
lymphopenia
primary immunodeficiency
recurrent infections, bacterial, viral, and fungal
normal b cells
normal nk cells
more

Respiratory:
respiratory infections, recurrent

Head And Neck Mouth:
thrush

Clinical features from OMIM:

615617

Human phenotypes related to Immunodeficiency 19:

³² (show all 6)

#	Description	HPO Source Accession
1	recurrent otitis media ³²	HP:0000403
2	failure to thrive ³²	HP:0001508
3	lymphopenia ³²	HP:0001888
4	diarrhea ³²	HP:0002014
5	recurrent respiratory infections ³²	HP:0002205
6	immunodeficiency ³²	HP:0002721

UMLS symptoms related to Immunodeficiency 19:

diarrhea

GenomeRNAi Phenotypes related to Immunodeficiency 19 according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00107-A-1	9.17	ZAP70
2	Decreased viability	GR00221-A-1	9.17	ZAP70
3	Decreased viability	GR00221-A-2	9.17	ZAP70
4	Decreased viability	GR00342-S-1	9.17	ZAP70
5	Decreased viability	GR00342-S-2	9.17	IKBKB ZAP70
6	Decreased viability	GR00402-S-2	9.17	ZAP70

MGI Mouse Phenotypes related to Immunodeficiency 19:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	endocrine/exocrine gland	MP:0005379	9.46	CD3G IKBKB JAK3 ZAP70
2	hematopoietic system	MP:0005397	9.35	CD3D CD3G IKBKB JAK3 ZAP70
3	immune system	MP:0005387	9.02	CD3D CD3G IKBKB JAK3 ZAP70

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Drugs & Therapeutics for Immunodeficiency 19

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 19

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Genetic Tests for Immunodeficiency 19

Genetic tests related to Immunodeficiency 19:

#	Genetic test	Affiliating Genes
1	Immunodeficiency 19 ²⁹	CD3D

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Anatomical Context for Immunodeficiency 19

MalaCards organs/tissues related to Immunodeficiency 19:

⁴¹

B Cells, T Cells, Nk Cells, Bone, Bone Marrow

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Publications for Immunodeficiency 19

Articles related to Immunodeficiency 19:

#	Title	Authors	Year
1	Effect of CD3delta deficiency on maturation of alpha/beta and gamma/delta T-cell lineages in severe combined immunodeficiency. ( 14602880 )	Dadi H.K....Roifman C.M.	2003

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Genes for Immunodeficiency 19

Genes related to Immunodeficiency 19 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CD3D	CD3d Molecule	Protein Coding	1034.85	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	10935641 21926461 14602880 (more) 21883749
2	CD3G	CD3g Molecule	Protein Coding	17.09	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	ZAP70	Zeta Chain Of T Cell Receptor Associated Protein Kinase 70	Protein Coding	15.75	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	JAK3	Janus Kinase 3	Protein Coding	14.9	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	IKBKB	Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Beta	Protein Coding	14.75	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)

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Variations for Immunodeficiency 19

ClinVar genetic disease variations for Immunodeficiency 19:

⁶

(show all 18)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	CD3D	NM_000732.4(CD3D): c.202C> T (p.Arg68Ter)	single nucleotide variant	Pathogenic	rs111033580	GRCh37	Chromosome 11, 118211162: 118211162
2	CD3D	NM_000732.4(CD3D): c.202C> T (p.Arg68Ter)	single nucleotide variant	Pathogenic	rs111033580	GRCh38	Chromosome 11, 118340447: 118340447
3	CD3D	NM_000732.4(CD3D): c.279C> A (p.Cys93Ter)	single nucleotide variant	Pathogenic	rs111033581	GRCh37	Chromosome 11, 118210617: 118210617
4	CD3D	NM_000732.4(CD3D): c.279C> A (p.Cys93Ter)	single nucleotide variant	Pathogenic	rs111033581	GRCh38	Chromosome 11, 118339902: 118339902
5	CD3D	NM_000732.4(CD3D): c.274+5G> A	single nucleotide variant	Pathogenic	rs730880296	GRCh38	Chromosome 11, 118340370: 118340370
6	CD3D	NM_000732.4(CD3D): c.274+5G> A	single nucleotide variant	Pathogenic	rs730880296	GRCh37	Chromosome 11, 118211085: 118211085
7	CD3D	NM_000732.4(CD3D): c.463C> T (p.Arg155Ter)	single nucleotide variant	Uncertain significance	rs777721098	GRCh37	Chromosome 11, 118209930: 118209930
8	CD3D	NM_000732.4(CD3D): c.463C> T (p.Arg155Ter)	single nucleotide variant	Uncertain significance	rs777721098	GRCh38	Chromosome 11, 118339215: 118339215
9	CD3D	NM_000732.4(CD3D): c.274+8C> T	single nucleotide variant	Likely benign		GRCh38	Chromosome 11, 118340367: 118340367
10	CD3D	NM_000732.4(CD3D): c.274+8C> T	single nucleotide variant	Likely benign		GRCh37	Chromosome 11, 118211082: 118211082
11	CD3D	NM_000732.4(CD3D): c.76A> G (p.Ile26Val)	single nucleotide variant	Uncertain significance	rs201374139	GRCh38	Chromosome 11, 118340573: 118340573
12	CD3D	NM_000732.4(CD3D): c.76A> G (p.Ile26Val)	single nucleotide variant	Uncertain significance	rs201374139	GRCh37	Chromosome 11, 118211288: 118211288
13	CD3D	NM_000732.4(CD3D): c.52C> A (p.Gln18Lys)	single nucleotide variant	Uncertain significance	rs141902449	GRCh37	Chromosome 11, 118213271: 118213271
14	CD3D	NM_000732.4(CD3D): c.52C> A (p.Gln18Lys)	single nucleotide variant	Uncertain significance	rs141902449	GRCh38	Chromosome 11, 118342556: 118342556
15	CD3D	NM_000732.4(CD3D): c.418C> A (p.Gln140Lys)	single nucleotide variant	Uncertain significance	rs201126605	GRCh38	Chromosome 11, 118339483: 118339483
16	CD3D	NM_000732.4(CD3D): c.418C> A (p.Gln140Lys)	single nucleotide variant	Uncertain significance	rs201126605	GRCh37	Chromosome 11, 118210198: 118210198
17	CD3D	NM_000732.4(CD3D): c.244A> G (p.Lys82Glu)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 11, 118340405: 118340405
18	CD3D	NM_000732.4(CD3D): c.244A> G (p.Lys82Glu)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 11, 118211120: 118211120

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Expression for Immunodeficiency 19

Search GEO for disease gene expression data for Immunodeficiency 19.

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Pathways for Immunodeficiency 19

Pathways related to Immunodeficiency 19 according to GeneCards Suite gene sharing:

(show all 44)

#	Super pathways	Score	Top Affiliating Genes
1	Innate Immune System ⁶⁶ Show member pathways Immune System ⁶⁶ Neutrophil degranulation ⁶⁶	13.66	CD3D CD3G IKBKB JAK3 ZAP70
2	GPCR Pathway ⁶⁴ Show member pathways Breast Cancer Regulation by Stathmin1 ⁶⁴ Estrogen Pathway ⁶⁴ NFAT in Immune Response ⁶⁴ P2Y Receptor Signaling ⁶⁴ Pancreatic Adenocarcinoma ⁶⁴ Paxillin Interactions ⁶⁴ Ras Pathway ⁶⁴	13.4	CD3D CD3G IKBKB JAK3 ZAP70
3	PEDF Induced Signaling ⁶⁴ Show member pathways all-trans-Retinoic Acid Signaling in Brain ⁶⁴ Cytokine-cytokine receptor interaction ³⁷ Endothelin-1 Signaling Pathway ⁶⁴ Glucocorticoid Receptor Signaling ⁶⁴ IL-6 Pathway ⁶⁴ MIF Mediated Glucocorticoid Regulation ⁶⁴ MIF Regulation of Innate Immune Cells ⁶⁴ NFAT Signaling and Lymphocyte Interactions ⁶⁴ PGC1Alpha Pathway ⁶⁴ RAR-Gamma-RXR-Alpha Degradation ⁶⁴ STAT3 Pathway ⁶⁴	13.33	CD3D CD3G IKBKB JAK3
4	Class I MHC mediated antigen processing and presentation ⁶⁶ Show member pathways Adaptive Immune System ⁶⁶ Antigen processing- Ubiquitination and Proteasome degradation ⁶⁶	13.14	CD3D CD3G IKBKB ZAP70
5	Akt Signaling ⁶⁴ Show member pathways p38 Signaling ⁶⁴ Tec Kinases Signaling ⁶⁴	13.1	CD3D CD3G IKBKB JAK3 ZAP70
6	Phospholipase-C Pathway ⁶⁴ Show member pathways PTEN Pathway ⁶⁴	12.76	CD3D CD3G ZAP70
7	Toll-like Receptor Signaling Pathway ³⁷ ¹ Show member pathways Chagas disease (American trypanosomiasis) ³⁷ NOD-like receptor signaling pathway ³⁷ NOD-like Receptor Signaling Pathways ⁶⁵ Regulation of toll-like receptor signaling pathway ¹	12.71	CD3D CD3G IKBKB
8	Development Angiotensin activation of ERK ²² Show member pathways Cell adhesion Integrin inside-out signaling ²² Development ACM2 and ACM4 activation of ERK ²² Development Angiotensin signaling via PYK2 ²² Development EDNRB signaling ²² Development EPO-induced MAPK pathway ²² Development G-Proteins mediated regulation MARK-ERK signaling ²² Signal transduction IP3 signaling ²²	12.68	CD3D CD3G IKBKB ZAP70
9	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	12.65	CD3D CD3G IKBKB ZAP70
10	CCR5 Pathway in Macrophages ⁶⁴ Show member pathways Androgen Signaling ⁶⁴ Chemokine Signaling ⁶⁴ Chemokine signaling pathway ³⁷	12.65	CD3D CD3G IKBKB JAK3
11	Influenza A ³⁷ Show member pathways Herpes simplex infection ³⁷ Measles ³⁷	12.56	CD3D CD3G IKBKB JAK3
12	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	12.35	CD3D CD3G IKBKB ZAP70
13	NF-kappaB Signaling ⁴	12.34	IKBKB JAK3 ZAP70
14	TCR Signaling (Qiagen) ⁶⁴ Show member pathways Fc-EpsilonRI Pathway ⁶⁴ PDGF Pathway ⁶⁴ PKC-Theta Pathway ⁶⁴ TCR Signaling ⁶⁴	12.33	CD3D CD3G IKBKB JAK3 ZAP70
15	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 CD3G IKBKB
16	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 CD3G IKBKB
17	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	12.19	CD3D CD3G IKBKB ZAP70
18	HTLV-I infection ³⁷	12.16	CD3D CD3G IKBKB JAK3
19	ICos-ICosL Pathway in T-Helper Cell ⁶⁴ Show member pathways Calcium Mediated T-Cell Apoptosis ⁶⁴ CD28 Signaling in T-Helper Cell ⁶⁴	12.11	CD3D CD3G IKBKB ZAP70
20	TCR signaling (REACTOME) ⁶⁶ Show member pathways TCR signaling ⁶⁶	12.02	CD3D CD3G IKBKB ZAP70
21	Immune response Antigen presentation by MHC class II ²² Show member pathways G-protein signaling N-RAS regulation pathway ²² IL-22 Pathway ⁶⁴ Immune response IL-22 signaling pathway ²²	12	CD3D CD3G JAK3
22	B Cell Receptor Signaling Pathway (sino) ⁶⁷ Show member pathways B Cell Receptor Signaling Pathway ⁶⁷	11.95	CD3D CD3G IKBKB ZAP70
23	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell ⁶⁶	11.82	CD3D CD3G
24	IL12-mediated signaling events ¹ Show member pathways Immune response IL-12-induced IFN-gamma production ²²	11.81	CD3D CD3G IKBKB
25	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	11.79	CD3D CD3G ZAP70
26	S-1P Stimulated Signaling ⁶⁴	11.77	CD3D CD3G ZAP70
27	Immune response IL-2 activation and signaling pathway ²² Show member pathways Immune response IL-3 activation and signaling pathway ²²	11.71	IKBKB JAK3
28	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	11.71	CD3D CD3G IKBKB ZAP70
29	Hematopoietic cell lineage ³⁷	11.67	CD3D CD3G
30	NF-kappa B signaling pathway ³⁷	11.65	IKBKB ZAP70
31	Cytokine production by Th17 cells in CF (Mouse model) ²² Show member pathways Cytokine production by Th17 cells in CF ²²	11.64	IKBKB JAK3
32	Signal transduction_Erk Interactions- Inhibition of Erk ²²	11.59	CD3D CD3G ZAP70
33	NF-kB (NFkB) Pathway ⁶⁷	11.57	CD3G IKBKB ZAP70
34	CXCR4-mediated signaling events ¹	11.55	CD3D CD3G
35	CTLA4 Signaling ⁶⁴	11.55	CD3D CD3G ZAP70
36	G-protein signaling_Regulation of RAC1 activity ²²	11.47	CD3D CD3G ZAP70
37	Downstream signaling in naive CD8+ T cells ¹ Show member pathways Ras signaling in the CD4+ TCR pathway ¹	11.44	CD3D CD3G
38	Th17 cell differentiation ³⁷ Show member pathways Inflammatory bowel disease (IBD) ³⁷ Th1 and Th2 cell differentiation ³⁷	11.44	CD3D CD3G IKBKB JAK3 ZAP70
39	G-protein signaling_Rap1A regulation pathway ²²	11.39	CD3D CD3G ZAP70
40	IL-2 Gene Expression in Activated and Quiescent T-Cells ⁶⁴ Show member pathways TOB in T-Cell Signaling ⁶⁴	11.32	CD3D CD3G
41	TCR signaling in naive CD4+ T cells ¹ Show member pathways TCR signaling in naive CD8+ T cells ¹	11.29	CD3D CD3G IKBKB ZAP70
42	Nur77 Signaling in T-Cell ⁶⁴	11.19	CD3D CD3G
43	Primary immunodeficiency ³⁷	11.15	CD3D JAK3 ZAP70
44	IL12 signaling mediated by STAT4 ¹	11.08	CD3D CD3G

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GO Terms for Immunodeficiency 19

Cellular components related to Immunodeficiency 19 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extrinsic component of cytoplasmic side of plasma membrane	GO:0031234	9.26	JAK3 ZAP70
2	clathrin-coated vesicle membrane	GO:0030665	9.16	CD3D CD3G
3	alpha-beta T cell receptor complex	GO:0042105	8.96	CD3D CD3G
4	T cell receptor complex	GO:0042101	8.8	CD3D CD3G ZAP70

Biological processes related to Immunodeficiency 19 according to GeneCards Suite gene sharing:

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	phosphorylation	GO:0016310	9.67	IKBKB JAK3 ZAP70
2	protein phosphorylation	GO:0006468	9.65	IKBKB JAK3 ZAP70
3	innate immune response	GO:0045087	9.63	IKBKB JAK3 ZAP70
4	immune system process	GO:0002376	9.56	CD3D CD3G JAK3 ZAP70
5	membrane organization	GO:0061024	9.52	CD3D CD3G
6	transmembrane receptor protein tyrosine kinase signaling pathway	GO:0007169	9.51	JAK3 ZAP70
7	T cell costimulation	GO:0031295	9.43	CD3D CD3G
8	peptidyl-tyrosine autophosphorylation	GO:0038083	9.4	JAK3 ZAP70
9	T cell activation	GO:0042110	9.37	CD3G ZAP70
10	T cell differentiation	GO:0030217	9.32	CD3D ZAP70
11	adaptive immune response	GO:0002250	9.26	CD3D CD3G JAK3 ZAP70
12	positive thymic T cell selection	GO:0045059	9.16	CD3D ZAP70
13	T cell receptor signaling pathway	GO:0050852	8.92	CD3D CD3G IKBKB ZAP70

Molecular functions related to Immunodeficiency 19 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein homodimerization activity	GO:0042803	9.5	CD3D CD3G IKBKB
2	kinase activity	GO:0016301	9.43	IKBKB JAK3 ZAP70
3	protein heterodimerization activity	GO:0046982	9.33	CD3D CD3G IKBKB
4	protein kinase activity	GO:0004672	9.13	IKBKB JAK3 ZAP70
5	non-membrane spanning protein tyrosine kinase activity	GO:0004715	8.62	JAK3 ZAP70

Sources

Sources for Immunodeficiency 19

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