Immunodeficiency, Common Variable, 10 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: IMM064 MIFTS: 32	Immunodeficiency, Common Variable, 10 Categories: Genetic diseases, Immune diseases, Endocrine diseases, Blood diseases, Rare diseases
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Aliases & Classifications for Immunodeficiency, Common Variable, 10

MalaCards integrated aliases for Immunodeficiency, Common Variable, 10:

Name: Immunodeficiency, Common Variable, 10 ⁵⁷ ⁷⁵ ⁷³

Deficit in Anterior Pituitary Function and Variable Immunodeficiency ⁵⁷ ⁷⁵

Common Variable Immunodeficiency 10 ²⁹ ⁶

Cvid10 ⁵⁷ ⁷⁵

David ⁵⁷ ⁷⁵

Deficiency in Anterior Pituitary Function-Variable Immunodeficiency Syndrome ⁵⁹

Deficit in Anterior Pituitary Function and Variable Immunodeficiency; David ⁵⁷

Immunodeficiency, Common Variable, with Central Adrenal Insufficiency ⁵⁷

Common Variable Immunodeficiency with Central Adrenal Insufficiency ⁷⁵

Immunodeficiency, Variable, Common, Type 10 ⁴⁰

David Syndrome ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

deficiency in anterior pituitary function-variable immunodeficiency syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
variable severity
onset in childhood
variable manifestations

HPO:

³²

immunodeficiency, common variable, 10:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Immune diseases Endocrine diseases Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Certain disorders involving the immune mechanism

Common variable immunodeficiency

Common variable immunodeficiency with autoantibodies to B- or T-cells

Common variable immunodeficiency with predominant abnormalities of B-cell numbers and function

Common variable immunodeficiency with predominant immunoregulatory T-cell disorders

Orphanet: ⁵⁹

Rare endocrine diseases

Rare immunological diseases

External Ids:

OMIM ⁵⁷ 615577

Orphanet ⁵⁹ ORPHA293978

MedGen ⁴² C3809991 CN185293

MeSH ⁴⁴ D017074

ICD10 ³³ D83.0 D83.1 D83.2

SNOMED-CT via HPO ⁶⁹ 263681008 24982008 2109003 more

UMLS ⁷³ C3809991

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Summaries for Immunodeficiency, Common Variable, 10

OMIM : ⁵⁷ Common variable immunodeficiency-10 is an autosomal dominant primary immunodeficiency characterized by childhood-onset of recurrent infections, hypogammaglobulinemia, and decreased numbers of memory and marginal zone B cells. Some patients may develop autoimmune features and have circulating autoantibodies. An unusual feature is central adrenal insufficiency (summary by Chen et al., 2013). For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594). (615577)

MalaCards based summary : Immunodeficiency, Common Variable, 10, also known as deficit in anterior pituitary function and variable immunodeficiency, is related to mesomelia-synostoses syndrome and dysphagia lusoria. An important gene associated with Immunodeficiency, Common Variable, 10 is NFKB2 (Nuclear Factor Kappa B Subunit 2). Affiliated tissues include pituitary, b cells and thyroid, and related phenotypes are recurrent otitis media and diplopia

UniProtKB/Swiss-Prot : ⁷⁵ Immunodeficiency, common variable, 10: A primary immunodeficiency characterized by childhood-onset of recurrent infections, hypogammaglobulinemia, and decreased numbers of memory and marginal zone B-cells. Some patients may develop autoimmune features and have circulating autoantibodies. An unusual feature is central adrenal insufficiency.

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Related Diseases for Immunodeficiency, Common Variable, 10

Diseases related to Immunodeficiency, Common Variable, 10 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 51)

#	Related Disease	Score
1	mesomelia-synostoses syndrome	11.7
2	dysphagia lusoria	11.2
3	spinocerebellar ataxia 7	10.9
4	poland syndrome	10.9
5	bloom syndrome	10.9
6	weaver syndrome	10.9
7	severe combined immunodeficiency	10.9
8	marfan syndrome	9.9
9	thrombophilia due to thrombin defect	9.8
10	thrombosis	9.8
11	sleeping sickness	9.8
12	brucellosis	9.8
13	cerebritis	9.8
14	immunodeficiency 10	9.8
15	common variable immunodeficiency	9.8
16	alcohol dependence	9.7
17	alzheimer disease	9.7
18	aortic valve disease 1	9.7
19	renal cell carcinoma, nonpapillary	9.7
20	adrenocortical carcinoma, hereditary	9.7
21	cardiac valvular defect, developmental	9.7
22	dermatitis, atopic	9.7
23	chromosome 16p13.3 deletion syndrome, proximal	9.7
24	burns	9.7
25	crohn's disease	9.7
26	follicular lymphoma	9.7
27	heart valve disease	9.7
28	liver disease	9.7
29	fetal alcohol syndrome	9.7
30	infective endocarditis	9.7
31	lymphoma	9.7
32	trypanosomiasis	9.7
33	endocarditis	9.7
34	q fever	9.7
35	goiter	9.7
36	entropion	9.7
37	endemic goiter	9.7
38	premature ejaculation	9.7
39	hereditary angioedema	9.7
40	pleural disease	9.7
41	angioedema	9.7
42	acromegaly	9.7
43	dermatitis	9.7
44	adrenal cortical adenocarcinoma	9.7
45	mutism	9.7
46	akinetic mutism	9.7
47	pleomorphic adenoma	9.7
48	adenoma	9.7
49	retroperitoneal fibrosis	9.7
50	trypanosomiasis, human east-african	9.7

Graphical network of the top 20 diseases related to Immunodeficiency, Common Variable, 10:

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Symptoms & Phenotypes for Immunodeficiency, Common Variable, 10

Symptoms via clinical synopsis from OMIM:

⁵⁷

Respiratory:
recurrent respiratory infections
asthma

Endocrine Features:
central adrenal insufficiency
growth hormone deficiency (1 patient)

Skin Nails Hair Nails:
onychodystrophy (in some patients)
trachyonychia (in some patients)

Skin Nails Hair Skin:
psoriasiform dermatitis (in some patients)

Immunology:
recurrent infections
hypogammaglobulinemia
low levels of memory b cells
autoimmune features (in some patients)
autoantibodies (in some patients)
more

Laboratory Abnormalities:
low serum cortisol
low serum acth
hypoglycemia, intermittent

Skin Nails Hair Hair:
alopecia (in some patients)

Neurologic Central Nervous System:
developmental delay (1 patient)
hypoplastic anterior pituitary (in some patients)

Clinical features from OMIM:

615577

Human phenotypes related to Immunodeficiency, Common Variable, 10:

⁵⁹ ³² (show all 44)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	recurrent otitis media ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000403
2	diplopia ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000651
3	global developmental delay ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001263
4	growth hormone deficiency ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000824
5	hypoglycemic coma ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001325
6	failure to thrive ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001508
7	alopecia ⁵⁹ ³²	occasional (7.5%)	Frequent (79-30%)	HP:0001596
8	autoimmune thrombocytopenia ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001973
9	recurrent hypoglycemia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001988
10	bronchiectasis ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002110
11	absence seizures ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002121
12	hypotension ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002615
13	recurrent bronchitis ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002837
14	severe b lymphocytopenia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0005365
15	hyponatremia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002902
16	decreased circulating acth level ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002920
17	psoriasiform dermatitis ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0003765
18	decreased antibody level in blood ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0004313
19	severe viral infections ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0005364
20	recurrent pneumonia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0006532
21	alopecia totalis ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0007418
22	nail dystrophy ⁵⁹ ³²	occasional (7.5%)	Frequent (79-30%)	HP:0008404
23	recurrent sinusitis ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0011108
24	adrenocorticotropin deficient adrenal insufficiency ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0011735
25	fatigue ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0012378
26	abnormal size of pituitary gland ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0012504
27	decreased circulating androgen level ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0030349
28	decreased serum insulin-like growth factor 1 ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0030353
29	recurrent pharyngitis ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0100776
30	abnormality of the periungual region ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0100803
31	sepsis ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0100806
32	hypocortisolemia ⁵⁹		Very frequent (99-80%)
33	vitiligo ⁵⁹		Excluded (0%)
34	hyperkalemia ⁵⁹		Excluded (0%)
35	recurrent upper respiratory tract infections ⁵⁹		Very frequent (99-80%)
36	abnormality of cells of the lymphoid lineage ⁵⁹		Frequent (79-30%)
37	autoimmune antibody positivity ⁵⁹		Excluded (0%)
38	thyroiditis ⁵⁹		Excluded (0%)
39	asthma ³²			HP:0002099
40	recurrent respiratory infections ³²			HP:0002205
41	immunodeficiency ³²			HP:0002721
42	central adrenal insufficiency ³²			HP:0011734
43	trachyonychia ³²	occasional (7.5%)		HP:0030804
44	decreased circulating cortisol level ³²	hallmark (90%)		HP:0008163

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Drugs & Therapeutics for Immunodeficiency, Common Variable, 10

Search Clinical Trials , NIH Clinical Center for Immunodeficiency, Common Variable, 10

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Genetic Tests for Immunodeficiency, Common Variable, 10

Genetic tests related to Immunodeficiency, Common Variable, 10:

#	Genetic test	Affiliating Genes
1	Common Variable Immunodeficiency 10 ²⁹	NFKB2

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Anatomical Context for Immunodeficiency, Common Variable, 10

MalaCards organs/tissues related to Immunodeficiency, Common Variable, 10:

⁴¹

Pituitary, B Cells, Thyroid, T Cells

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Publications for Immunodeficiency, Common Variable, 10

Articles related to Immunodeficiency, Common Variable, 10:

#	Title	Authors	Year
1	Psoriasiform dermatitis associated with common variable immunodeficiency 10 due to an Arg853* mutation in the NFKB2 gene. ( 29952021 )	Nagai M....Yamanishi K.	2018

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Genes for Immunodeficiency, Common Variable, 10

Genes related to Immunodeficiency, Common Variable, 10 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	NFKB2	Nuclear Factor Kappa B Subunit 2	Protein Coding	1377.83	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (gain of function) ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	24140114 25524009 22013103 (more) 24888602 25237204

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Variations for Immunodeficiency, Common Variable, 10

ClinVar genetic disease variations for Immunodeficiency, Common Variable, 10:

⁶

(show top 50) (show all 64)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	NFKB2	NM_001077494.3(NFKB2): c.2557C> T (p.Arg853Ter)	single nucleotide variant	Pathogenic	rs397514332	GRCh37	Chromosome 10, 104161895: 104161895
2	NFKB2	NM_001077494.3(NFKB2): c.2557C> T (p.Arg853Ter)	single nucleotide variant	Pathogenic	rs397514332	GRCh38	Chromosome 10, 102402138: 102402138
3	NFKB2	NM_001288724.1(NFKB2): c.2564delA (p.Lys855Serfs)	deletion	Pathogenic	rs397514331	GRCh37	Chromosome 10, 104161902: 104161902
4	NFKB2	NM_001288724.1(NFKB2): c.2564delA (p.Lys855Serfs)	deletion	Pathogenic	rs397514331	GRCh38	Chromosome 10, 102402145: 102402145
5	NFKB2	NM_001077494.3(NFKB2): c.2556_2563delCCGAGACA (p.Arg853Alafs)	deletion	Pathogenic	rs727502786	GRCh37	Chromosome 10, 104161894: 104161901
6	NFKB2	NM_001077494.3(NFKB2): c.2556_2563delCCGAGACA (p.Arg853Alafs)	deletion	Pathogenic	rs727502786	GRCh38	Chromosome 10, 102402137: 102402144
7	NFKB2	NM_001077494.3(NFKB2): c.2594A> G (p.Asp865Gly)	single nucleotide variant	Pathogenic	rs727502787	GRCh37	Chromosome 10, 104162024: 104162024
8	NFKB2	NM_001077494.3(NFKB2): c.2594A> G (p.Asp865Gly)	single nucleotide variant	Pathogenic	rs727502787	GRCh38	Chromosome 10, 102402267: 102402267
9	NFKB2	NM_001077494.3(NFKB2): c.2600C> T (p.Ala867Val)	single nucleotide variant	Pathogenic	rs727502788	GRCh37	Chromosome 10, 104162030: 104162030
10	NFKB2	NM_001077494.3(NFKB2): c.2600C> T (p.Ala867Val)	single nucleotide variant	Pathogenic	rs727502788	GRCh38	Chromosome 10, 102402273: 102402273
11	NFKB2	NM_001077494.3(NFKB2): c.2467-9T> A	single nucleotide variant	Benign	rs11574853	GRCh38	Chromosome 10, 102402039: 102402039
12	NFKB2	NM_001077494.3(NFKB2): c.2467-9T> A	single nucleotide variant	Benign	rs11574853	GRCh37	Chromosome 10, 104161796: 104161796
13	NFKB2	NM_001077494.3(NFKB2): c.40G> A (p.Glu14Lys)	single nucleotide variant	Benign	rs45581936	GRCh37	Chromosome 10, 104156028: 104156028
14	NFKB2	NM_001077494.3(NFKB2): c.40G> A (p.Glu14Lys)	single nucleotide variant	Benign	rs45581936	GRCh38	Chromosome 10, 102396271: 102396271
15	NFKB2	NM_001077494.3(NFKB2): c.1869G> A (p.Gly623=)	single nucleotide variant	Benign	rs138786808	GRCh37	Chromosome 10, 104160482: 104160482
16	NFKB2	NM_001077494.3(NFKB2): c.1869G> A (p.Gly623=)	single nucleotide variant	Benign	rs138786808	GRCh38	Chromosome 10, 102400725: 102400725
17	NFKB2	NM_001077494.3(NFKB2): c.2286C> T (p.Ser762=)	single nucleotide variant	Likely benign	rs899733509	GRCh37	Chromosome 10, 104161268: 104161268
18	NFKB2	NM_001077494.3(NFKB2): c.2286C> T (p.Ser762=)	single nucleotide variant	Likely benign	rs899733509	GRCh38	Chromosome 10, 102401511: 102401511
19	NFKB2	NM_001077494.3(NFKB2): c.2601G> A (p.Ala867=)	single nucleotide variant	Likely benign		GRCh38	Chromosome 10, 102402274: 102402274
20	NFKB2	NM_001077494.3(NFKB2): c.2601G> A (p.Ala867=)	single nucleotide variant	Likely benign		GRCh37	Chromosome 10, 104162031: 104162031
21	NFKB2	NM_001077494.3(NFKB2): c.1097G> A (p.Gly366Asp)	single nucleotide variant	Uncertain significance	rs747854969	GRCh38	Chromosome 10, 102398844: 102398844
22	NFKB2	NM_001077494.3(NFKB2): c.1097G> A (p.Gly366Asp)	single nucleotide variant	Uncertain significance	rs747854969	GRCh37	Chromosome 10, 104158601: 104158601
23	NFKB2	NM_001077494.3(NFKB2): c.1269G> A (p.Pro423=)	single nucleotide variant	Benign	rs4919633	GRCh37	Chromosome 10, 104159196: 104159196
24	NFKB2	NM_001077494.3(NFKB2): c.1269G> A (p.Pro423=)	single nucleotide variant	Benign	rs4919633	GRCh38	Chromosome 10, 102399439: 102399439
25	NFKB2	NM_001077494.3(NFKB2): c.1288C> T (p.Pro430Ser)	single nucleotide variant	Likely benign	rs202001697	GRCh38	Chromosome 10, 102399458: 102399458
26	NFKB2	NM_001077494.3(NFKB2): c.1288C> T (p.Pro430Ser)	single nucleotide variant	Likely benign	rs202001697	GRCh37	Chromosome 10, 104159215: 104159215
27	NFKB2	NM_001077494.3(NFKB2): c.1821G> A (p.Ala607=)	single nucleotide variant	Benign	rs4919634	GRCh37	Chromosome 10, 104160434: 104160434
28	NFKB2	NM_001077494.3(NFKB2): c.1821G> A (p.Ala607=)	single nucleotide variant	Benign	rs4919634	GRCh38	Chromosome 10, 102400677: 102400677
29	NFKB2	NM_001077494.3(NFKB2): c.1962C> T (p.Val654=)	single nucleotide variant	Benign	rs201623844	GRCh37	Chromosome 10, 104160575: 104160575
30	NFKB2	NM_001077494.3(NFKB2): c.1962C> T (p.Val654=)	single nucleotide variant	Benign	rs201623844	GRCh38	Chromosome 10, 102400818: 102400818
31	NFKB2	NM_001077494.3(NFKB2): c.2239C> T (p.Leu747=)	single nucleotide variant	Benign	rs11191279	GRCh37	Chromosome 10, 104161221: 104161221
32	NFKB2	NM_001077494.3(NFKB2): c.2239C> T (p.Leu747=)	single nucleotide variant	Benign	rs11191279	GRCh38	Chromosome 10, 102401464: 102401464
33	NFKB2	NM_001077494.3(NFKB2): c.2579C> G (p.Ala860Gly)	single nucleotide variant	Uncertain significance	rs371190206	GRCh38	Chromosome 10, 102402252: 102402252
34	NFKB2	NM_001077494.3(NFKB2): c.2579C> G (p.Ala860Gly)	single nucleotide variant	Uncertain significance	rs371190206	GRCh37	Chromosome 10, 104162009: 104162009
35	NFKB2	NM_001077494.3(NFKB2): c.1386C> G (p.Leu462=)	single nucleotide variant	Likely benign	rs762807587	GRCh37	Chromosome 10, 104159392: 104159392
36	NFKB2	NM_001077494.3(NFKB2): c.1386C> G (p.Leu462=)	single nucleotide variant	Likely benign	rs762807587	GRCh38	Chromosome 10, 102399635: 102399635
37	NFKB2	NM_001077494.3(NFKB2): c.2072-3C> T	single nucleotide variant	Likely benign	rs201550645	GRCh38	Chromosome 10, 102401177: 102401177
38	NFKB2	NM_001077494.3(NFKB2): c.2072-3C> T	single nucleotide variant	Likely benign	rs201550645	GRCh37	Chromosome 10, 104160934: 104160934
39	NFKB2	NM_001077494.3(NFKB2): c.2094C> T (p.Asn698=)	single nucleotide variant	Benign	rs11574851	GRCh37	Chromosome 10, 104160959: 104160959
40	NFKB2	NM_001077494.3(NFKB2): c.2094C> T (p.Asn698=)	single nucleotide variant	Benign	rs11574851	GRCh38	Chromosome 10, 102401202: 102401202
41	NFKB2	NM_001077494.3(NFKB2): c.216G> A (p.Lys72=)	single nucleotide variant	Likely benign	rs369551276	GRCh37	Chromosome 10, 104156553: 104156553
42	NFKB2	NM_001077494.3(NFKB2): c.216G> A (p.Lys72=)	single nucleotide variant	Likely benign	rs369551276	GRCh38	Chromosome 10, 102396796: 102396796
43	NFKB2	NM_001077494.3(NFKB2): c.921G> A (p.Leu307=)	single nucleotide variant	Benign	rs146926941	GRCh38	Chromosome 10, 102398453: 102398453
44	NFKB2	NM_001077494.3(NFKB2): c.921G> A (p.Leu307=)	single nucleotide variant	Benign	rs146926941	GRCh37	Chromosome 10, 104158210: 104158210
45	NFKB2	NM_001077494.3(NFKB2): c.1170C> A (p.Ser390=)	single nucleotide variant	Likely benign		GRCh37	Chromosome 10, 104159097: 104159097
46	NFKB2	NM_001077494.3(NFKB2): c.1170C> A (p.Ser390=)	single nucleotide variant	Likely benign		GRCh38	Chromosome 10, 102399340: 102399340
47	NFKB2	NM_001077494.3(NFKB2): c.1826G> A (p.Arg609Gln)	single nucleotide variant	Benign	rs200092317	GRCh37	Chromosome 10, 104160439: 104160439
48	NFKB2	NM_001077494.3(NFKB2): c.1826G> A (p.Arg609Gln)	single nucleotide variant	Benign	rs200092317	GRCh38	Chromosome 10, 102400682: 102400682
49	NFKB2	NM_001077494.3(NFKB2): c.396-5C> T	single nucleotide variant	Likely benign	rs373971415	GRCh37	Chromosome 10, 104157054: 104157054
50	NFKB2	NM_001077494.3(NFKB2): c.396-5C> T	single nucleotide variant	Likely benign	rs373971415	GRCh38	Chromosome 10, 102397297: 102397297

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Expression for Immunodeficiency, Common Variable, 10

Search GEO for disease gene expression data for Immunodeficiency, Common Variable, 10.

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Pathways for Immunodeficiency, Common Variable, 10

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GO Terms for Immunodeficiency, Common Variable, 10

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