Leptin Receptor Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: LPT006 MIFTS: 38	Leptin Receptor Deficiency Categories: Genetic diseases, Reproductive diseases, Endocrine diseases, Rare diseases, Metabolic diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Download Expand all tables

Sources

Aliases & Classifications for Leptin Receptor Deficiency

MalaCards integrated aliases for Leptin Receptor Deficiency:

Name: Leptin Receptor Deficiency ⁵⁷ ²⁵ ⁷⁵ ³⁷ ²⁹ ⁶ ⁷³

Obesity, Morbid, Due to Leptin Receptor Deficiency ⁵⁷ ²⁵ ¹³

Obesity Due to Leptin Receptor Gene Deficiency ²⁵ ⁵⁹

Obesity, Morbid, Nonsyndromic 2 ⁵⁷ ²⁵

Morbid Obesity Due to Leptin Receptor Deficiency ⁷⁵

Congenital Deficiency of the Leptin Receptor ²⁵

Leptin Receptor-Related Monogenic Obesity ²⁵

Non-Syndromic Morbid Obesity 2 ⁷⁵

Deficiency, Leptin Receptor ⁴⁰

Leptin Receptor ¹³

Leprd ⁷⁵

Characteristics:

Orphanet epidemiological data:

⁵⁹

obesity due to leptin receptor gene deficiency
Inheritance: Autosomal recessive;

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Reproductive diseases Endocrine diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Endocrine, nutritional and metabolic diseases

Obesity and other hyperalimentation

Obesity

Other obesity

Orphanet: ⁵⁹

Rare infertility disorders

Rare gynaecological and obstetric diseases

Rare endocrine diseases

External Ids:

OMIM ⁵⁷ 614963

Orphanet ⁵⁹ ORPHA179494

ICD10 via Orphanet ³⁴ E66.8

MedGen ⁴² C3554225 CN120495

MeSH ⁴⁴ D009767

KEGG ³⁷ H02060

UMLS ⁷³ C3554225

Sources

Summaries for Leptin Receptor Deficiency

Genetics Home Reference : ²⁵ Leptin receptor deficiency is a condition that causes severe obesity beginning in the first few months of life. Affected individuals are of normal weight at birth, but they are constantly hungry and quickly gain weight. The extreme hunger leads to chronic excessive eating (hyperphagia) and obesity. Beginning in early childhood, affected individuals develop abnormal eating behaviors such as fighting with other children over food, hoarding food, and eating in secret.

MalaCards based summary : Leptin Receptor Deficiency, also known as obesity, morbid, due to leptin receptor deficiency, is related to obesity due to congenital leptin deficiency and lung cancer. An important gene associated with Leptin Receptor Deficiency is LEPR (Leptin Receptor), and among its related pathways/superpathways are Neuroactive ligand-receptor interaction and Adipocytokine signaling pathway. The drugs alpha-MSH and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include t cells, hypothalamus and pituitary, and related phenotypes are obesity and decreased serum leptin

UniProtKB/Swiss-Prot : ⁷⁵ Leptin receptor deficiency: A rare disease characterized by normal levels of serum leptin, hyperphagia and severe obesity from an early age. Additional features include alterations in immune function, and delayed puberty due to hypogonadotropic hypogonadism.

Wikipedia : ⁷⁶ Leptin receptor also known as LEP-R or OB-R is a Type I cytokine receptor, a protein that in humans is... more...

Description from OMIM: 614963

Sources

Related Diseases for Leptin Receptor Deficiency

Diseases related to Leptin Receptor Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)

#	Related Disease	Score	Top Affiliating Genes
1	obesity due to congenital leptin deficiency	11.1
2	lung cancer	10.6
3	breast cancer	10.1
4	diabetes mellitus, noninsulin-dependent	10.1
5	osteoporosis	9.7
6	diabetes mellitus	9.7
7	glucose intolerance	9.7
8	influenza	9.7
9	autonomic dysfunction	9.7
10	hypoxia	9.7
11	body mass index quantitative trait locus 11	9.0	LEPR LEPROT

Graphical network of the top 20 diseases related to Leptin Receptor Deficiency:

Sources

Symptoms & Phenotypes for Leptin Receptor Deficiency

Clinical features from OMIM:

614963

Human phenotypes related to Leptin Receptor Deficiency:

⁵⁹ ³² (show all 27)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	obesity ⁵⁹ ³²	obligate (100%)	Obligate (100%)	HP:0001513
2	decreased serum leptin ⁵⁹ ³²	obligate (100%)	Obligate (100%)	HP:0003292
3	gynecomastia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000771
4	primary amenorrhea ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000786
5	hypergonadotropic hypogonadism ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000815
6	hyperinsulinemia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000842
7	polyphagia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002591
8	decreased t cell activation ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0005419
9	absence of secondary sex characteristics ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0008187
10	decreased serum estradiol ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0008214
11	decreased testosterone in males ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0008230
12	hypoplasia of the ovary ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0008724
13	decreased testicular size ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0008734
14	emotional lability ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000712
15	insulin-resistant diabetes mellitus ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000831
16	hypertriglyceridemia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002155
17	recurrent upper respiratory tract infections ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002788
18	orthostatic hypotension due to autonomic dysfunction ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0004926
19	accelerated skeletal maturation ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0005616
20	pituitary hypothyroidism ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0008245
21	decreased number of cd4+ t cells ⁵⁹		Very frequent (99-80%)
22	aggressive behavior ³²	obligate (100%)		HP:0000718
23	delayed puberty ³²			HP:0000823
24	growth hormone deficiency ³²			HP:0000824
25	immune dysregulation ³²			HP:0002958
26	abnormal hypothalamus morphology ³²	obligate (100%)		HP:0012286
27	decreased proportion of cd4-positive t cells ³²	hallmark (90%)		HP:0005407

MGI Mouse Phenotypes related to Leptin Receptor Deficiency:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	adipose tissue	MP:0005375	8.62	LEPR LEPROT

Sources

Drugs & Therapeutics for Leptin Receptor Deficiency

Drugs for Leptin Receptor Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

#	Name	Status	Phase	Clinical Trials	Cas Number	PubChem Id
1	alpha-MSH		Phase 3,Phase 2		581-05-5
2	Hormone Antagonists		Phase 3,Phase 2
3	Hormones		Phase 3,Phase 2
4	Hormones, Hormone Substitutes, and Hormone Antagonists		Phase 3,Phase 2

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Setmelanotide for the Treatment of LEPR Deficiency Obesity	Recruiting	NCT03287960	Phase 3	setmelanotide;Placebo
2	Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity	Recruiting	NCT03013543	Phase 2, Phase 3	Setmelanotide

Search NIH Clinical Center for Leptin Receptor Deficiency

Sources

Genetic Tests for Leptin Receptor Deficiency

Genetic tests related to Leptin Receptor Deficiency:

#	Genetic test	Affiliating Genes
1	Leptin Receptor Deficiency ²⁹	LEPR

Sources

Anatomical Context for Leptin Receptor Deficiency

MalaCards organs/tissues related to Leptin Receptor Deficiency:

⁴¹

T Cells, Hypothalamus, Pituitary, Ovary, Nk Cells, Lung, Brain

Sources

Publications for Leptin Receptor Deficiency

Articles related to Leptin Receptor Deficiency:

(show all 21)

#	Title	Authors	Year
1	MC4R agonism promotes durable weight loss in patients with leptin receptor deficiency. ( 29736023 )	ClAcment K....KA1hnen P.	2018
2	Potential role of gender specific effect of leptin receptor deficiency in an extended consanguineous family with severe early-onset obesity. ( 29545012 )	Dehghani M.R....Maroofian R.	2018
3	Validity of leptin receptor-deficiency (db/db) type 2 diabetes mellitus mice as a model of secondary osteoporosis. ( 27283954 )	Huang L....Qin L.	2016
4	Chronic stress aggravates glucose intolerance in leptin receptor-deficient (db/db) mice. ( 25791744 )	Razzoli M....Bartolomucci A.	2015
5	The daidzein- and estradiol- induced anorectic action in CCK or leptin receptor deficiency rats. ( 25765851 )	Fujitani M....Kishida T.	2015
6	Leptin receptor deficiency confers resistance to behavioral effects of fluoxetine and desipramine via separable substrates. ( 25463972 )	Guo M....Lu X.Y.	2014
7	Impaired clearance of influenza A virus in obese, leptin receptor deficient mice is independent of leptin signaling in the lung epithelium and macrophages. ( 25232724 )	Radigan K.A....Mutlu G.M.	2014
8	Increased central and peripheral inflammation and inflammatory hyperalgesia in Zucker rat model of leptin receptor deficiency and genetic obesity. ( 22523380 )	Iannitti T....Dolan S.	2012
9	Haematopoietic leptin receptor deficiency does not affect macrophage accumulation in adipose tissue or systemic insulin sensitivity. ( 22194312 )	Gutierrez D.A....Hasty A.H.	2012
10	Neuropeptide Y and agouti-related peptide mediate complementary functions of hyperphagia and reduced energy expenditure in leptin receptor deficiency. ( 21285324 )	Luo N....Chua S.	2011
11	Diabetic hypertensive leptin receptor-deficient db/db mice develop cardioregulatory autonomic dysfunction. ( 19029483 )	Goncalves A.C....Gross V.	2009
12	Bromocriptine administration reduces hyperphagia and adiposity and differentially affects dopamine D2 receptor and transporter binding in leptin-receptor-deficient Zucker rats and rats with diet-induced obesity. ( 18984941 )	Davis L.M....Thanos P.K.	2009
13	The effect of leptin receptor deficiency and fasting on cannabinoid receptor 1 mRNA expression in the rat hypothalamus, brainstem and nodose ganglion. ( 19596404 )	Jelsing J....Vrang N.	2009
14	Leptin receptor deficiency is associated with upregulation of cannabinoid 1 receptors in limbic brain regions. ( 18563836 )	Thanos P.K....Volkow N.D.	2008
15	Swim training improves leptin receptor deficiency-induced obesity and lipid disorder by activating uncoupling proteins. ( 17603293 )	Oh K.S....Lee C.M.	2007
16	Indirect effects of leptin receptor deficiency on lymphocyte populations and immune response in db/db mice. ( 16920925 )	Palmer G....Gabay C.	2006
17	Leptin receptor-deficient obese Zucker rats reduce their food intake in response to hypobaric hypoxia. ( 16234269 )	Simler N....Bigard A.X.	2006
18	Leptin receptor-deficient MMTV-TGF-alpha/Lepr(db)Lepr(db) female mice do not develop oncogene-induced mammary tumors. ( 14734797 )	Cleary M.P....Maihle N.J.	2004
19	Transgenic complementation of leptin receptor deficiency. II. Increased leptin receptor transgene dose effects on obesity/diabetes and fertility/lactation in lepr-db/db mice. ( 14600075 )	Chua S.C....Guo X.E.	2004
20	Impaired natural killer (NK) cell activity in leptin receptor deficient mice: leptin as a critical regulator in NK cell development and activation. ( 12413939 )	Tian Z....Gao B.	2002
21	Transgenic complementation of leptin-receptor deficiency. I. Rescue of the obesity/diabetes phenotype of LEPR-null mice expressing a LEPR-B transgene. ( 11272157 )	Kowalski T.J....Chua S.C.	2001

Sources

Genes for Leptin Receptor Deficiency

Genes related to Leptin Receptor Deficiency (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	LEPR	Leptin Receptor	Protein Coding	1379.57	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	9537324
2	LEPROT	Leptin Receptor Overlapping Transcript	Protein Coding	8.39	GeneCards inferred via : Variants (show sections)

Sources

Variations for Leptin Receptor Deficiency

ClinVar genetic disease variations for Leptin Receptor Deficiency:

⁶

(show top 50) (show all 63)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	LEPR	LEPR, IVS16, G-A, +1	single nucleotide variant	Pathogenic
2	LEPR	NM_002303.5(LEPR): c.-161C> T	single nucleotide variant	Uncertain significance	rs372078226	GRCh38	Chromosome 1, 65420676: 65420676
3	LEPR	NM_002303.5(LEPR): c.-161C> T	single nucleotide variant	Uncertain significance	rs372078226	GRCh37	Chromosome 1, 65886359: 65886359
4	LEPR	NM_002303.5(LEPR): c.-120C> T	single nucleotide variant	Uncertain significance	rs189950527	GRCh38	Chromosome 1, 65420717: 65420717
5	LEPR	NM_002303.5(LEPR): c.-120C> T	single nucleotide variant	Uncertain significance	rs189950527	GRCh37	Chromosome 1, 65886400: 65886400
6	LEPR	NM_002303.5(LEPR): c.-20-15A> T	single nucleotide variant	Uncertain significance	rs116571599	GRCh38	Chromosome 1, 65565531: 65565531
7	LEPR	NM_002303.5(LEPR): c.-20-15A> T	single nucleotide variant	Uncertain significance	rs116571599	GRCh37	Chromosome 1, 66031214: 66031214
8	LEPR	NM_002303.5(LEPR): c.921G> C (p.Gln307His)	single nucleotide variant	Uncertain significance	rs531183918	GRCh38	Chromosome 1, 65598731: 65598731
9	LEPR	NM_002303.5(LEPR): c.921G> C (p.Gln307His)	single nucleotide variant	Uncertain significance	rs531183918	GRCh37	Chromosome 1, 66064414: 66064414
10	LEPR	NM_002303.5(LEPR): c.1246C> T (p.His416Tyr)	single nucleotide variant	Uncertain significance	rs144710810	GRCh38	Chromosome 1, 65601643: 65601643
11	LEPR	NM_002303.5(LEPR): c.1246C> T (p.His416Tyr)	single nucleotide variant	Uncertain significance	rs144710810	GRCh37	Chromosome 1, 66067326: 66067326
12	LEPR	NM_002303.5(LEPR): c.2103C> T (p.Phe701=)	single nucleotide variant	Uncertain significance	rs755504289	GRCh38	Chromosome 1, 65616115: 65616115
13	LEPR	NM_002303.5(LEPR): c.2103C> T (p.Phe701=)	single nucleotide variant	Uncertain significance	rs755504289	GRCh37	Chromosome 1, 66081798: 66081798
14	LEPR	NM_002303.5(LEPR): c.3078T> C (p.Asn1026=)	single nucleotide variant	Uncertain significance	rs34130975	GRCh38	Chromosome 1, 65636595: 65636595
15	LEPR	NM_002303.5(LEPR): c.3078T> C (p.Asn1026=)	single nucleotide variant	Uncertain significance	rs34130975	GRCh37	Chromosome 1, 66102278: 66102278
16	LEPR	NM_002303.5(LEPR): c.3479T> C (p.Met1160Thr)	single nucleotide variant	Uncertain significance	rs145685060	GRCh38	Chromosome 1, 65636996: 65636996
17	LEPR	NM_002303.5(LEPR): c.3479T> C (p.Met1160Thr)	single nucleotide variant	Uncertain significance	rs145685060	GRCh37	Chromosome 1, 66102679: 66102679
18	LEPR	NM_002303.5(LEPR): c.*112T> C	single nucleotide variant	Uncertain significance	rs886046506	GRCh37	Chromosome 1, 66102810: 66102810
19	LEPR	NM_002303.5(LEPR): c.*112T> C	single nucleotide variant	Uncertain significance	rs886046506	GRCh38	Chromosome 1, 65637127: 65637127
20	LEPR	NM_002303.5(LEPR): c.371A> G (p.Asp124Gly)	single nucleotide variant	Uncertain significance	rs35573508	GRCh38	Chromosome 1, 65572326: 65572326
21	LEPR	NM_002303.5(LEPR): c.371A> G (p.Asp124Gly)	single nucleotide variant	Uncertain significance	rs35573508	GRCh37	Chromosome 1, 66038009: 66038009
22	LEPR	NM_002303.5(LEPR): c.536G> A (p.Gly179Asp)	single nucleotide variant	Uncertain significance	rs151190195	GRCh38	Chromosome 1, 65592698: 65592698
23	LEPR	NM_002303.5(LEPR): c.536G> A (p.Gly179Asp)	single nucleotide variant	Uncertain significance	rs151190195	GRCh37	Chromosome 1, 66058381: 66058381
24	LEPR	NM_002303.5(LEPR): c.1166G> A (p.Ser389Asn)	single nucleotide variant	Uncertain significance	rs780534740	GRCh38	Chromosome 1, 65601563: 65601563
25	LEPR	NM_002303.5(LEPR): c.1166G> A (p.Ser389Asn)	single nucleotide variant	Uncertain significance	rs780534740	GRCh37	Chromosome 1, 66067246: 66067246
26	LEPR	NM_002303.5(LEPR): c.2698A> G (p.Ile900Val)	single nucleotide variant	Uncertain significance	rs142647085	GRCh38	Chromosome 1, 65636215: 65636215
27	LEPR	NM_002303.5(LEPR): c.2698A> G (p.Ile900Val)	single nucleotide variant	Uncertain significance	rs142647085	GRCh37	Chromosome 1, 66101898: 66101898
28	LEPR	NM_002303.5(LEPR): c.3019A> T (p.Ser1007Cys)	single nucleotide variant	Uncertain significance	rs145651189	GRCh38	Chromosome 1, 65636536: 65636536
29	LEPR	NM_002303.5(LEPR): c.3019A> T (p.Ser1007Cys)	single nucleotide variant	Uncertain significance	rs145651189	GRCh37	Chromosome 1, 66102219: 66102219
30	LEPR	NM_002303.5(LEPR): c.3114A> G (p.Ile1038Met)	single nucleotide variant	Uncertain significance	rs886046505	GRCh38	Chromosome 1, 65636631: 65636631
31	LEPR	NM_002303.5(LEPR): c.3114A> G (p.Ile1038Met)	single nucleotide variant	Uncertain significance	rs886046505	GRCh37	Chromosome 1, 66102314: 66102314
32	LEPR	NM_002303.5(LEPR): c.*188A> C	single nucleotide variant	Uncertain significance	rs886046507	GRCh37	Chromosome 1, 66102886: 66102886
33	LEPR	NM_002303.5(LEPR): c.*188A> C	single nucleotide variant	Uncertain significance	rs886046507	GRCh38	Chromosome 1, 65637203: 65637203
34	LEPR	NM_002303.5(LEPR): c.362_363delCA	deletion	Benign	rs796868878	GRCh37	Chromosome 1, 66103060: 66103061
35	LEPR	NM_002303.5(LEPR): c.362_363delCA	deletion	Benign	rs796868878	GRCh38	Chromosome 1, 65637377: 65637378
36	LEPR	NM_002303.5(LEPR): c.*403T> C	single nucleotide variant	Uncertain significance	rs375886561	GRCh37	Chromosome 1, 66103101: 66103101
37	LEPR	NM_002303.5(LEPR): c.*403T> C	single nucleotide variant	Uncertain significance	rs375886561	GRCh38	Chromosome 1, 65637418: 65637418
38	LEPR	NM_002303.5(LEPR): c.-122T> C	single nucleotide variant	Benign	rs3790435	GRCh38	Chromosome 1, 65420715: 65420715
39	LEPR	NM_002303.5(LEPR): c.-122T> C	single nucleotide variant	Benign	rs3790435	GRCh37	Chromosome 1, 65886398: 65886398
40	LEPR	NM_002303.5(LEPR): c.-92C> T	single nucleotide variant	Uncertain significance	rs13306523	GRCh38	Chromosome 1, 65425307: 65425307
41	LEPR	NM_002303.5(LEPR): c.-92C> T	single nucleotide variant	Uncertain significance	rs13306523	GRCh37	Chromosome 1, 65890990: 65890990
42	LEPR	NM_002303.5(LEPR): c.666C> G (p.Phe222Leu)	single nucleotide variant	Uncertain significance	rs886046503	GRCh38	Chromosome 1, 65592828: 65592828
43	LEPR	NM_002303.5(LEPR): c.666C> G (p.Phe222Leu)	single nucleotide variant	Uncertain significance	rs886046503	GRCh37	Chromosome 1, 66058511: 66058511
44	LEPR	NM_002303.5(LEPR): c.1029T> C (p.Ser343=)	single nucleotide variant	Likely benign	rs1805134	GRCh38	Chromosome 1, 65601426: 65601426
45	LEPR	NM_002303.5(LEPR): c.1029T> C (p.Ser343=)	single nucleotide variant	Likely benign	rs1805134	GRCh37	Chromosome 1, 66067109: 66067109
46	LEPR	NM_002303.5(LEPR): c.3057G> A (p.Pro1019=)	single nucleotide variant	Benign	rs1805096	GRCh38	Chromosome 1, 65636574: 65636574
47	LEPR	NM_002303.5(LEPR): c.3057G> A (p.Pro1019=)	single nucleotide variant	Benign	rs1805096	GRCh37	Chromosome 1, 66102257: 66102257
48	LEPR	NM_002303.5(LEPR): c.*201C> T	single nucleotide variant	Uncertain significance	rs577287309	GRCh37	Chromosome 1, 66102899: 66102899
49	LEPR	NM_002303.5(LEPR): c.*201C> T	single nucleotide variant	Uncertain significance	rs577287309	GRCh38	Chromosome 1, 65637216: 65637216
50	LEPR	NM_002303.5(LEPR): c.716C> T (p.Pro239Leu)	single nucleotide variant	Uncertain significance	rs886046504	GRCh38	Chromosome 1, 65596460: 65596460

Sources

Expression for Leptin Receptor Deficiency

Search GEO for disease gene expression data for Leptin Receptor Deficiency.

Sources

Pathways for Leptin Receptor Deficiency

Pathways related to Leptin Receptor Deficiency according to KEGG:

³⁷

#	Name	Kegg Source Accession
1	Neuroactive ligand-receptor interaction	hsa04080
2	Adipocytokine signaling pathway	hsa04920
3	Jak-STAT signaling pathway	hsa04630
4	AMPK signaling pathway	hsa04152
5	Cytokine-cytokine receptor interaction	hsa04060

Sources

GO Terms for Leptin Receptor Deficiency

Sources

Sources for Leptin Receptor Deficiency

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