Loeys-Dietz Syndrome 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: LYS021 MIFTS: 38	Loeys-Dietz Syndrome 3 Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Bone diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Download Expand all tables

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Aliases & Classifications for Loeys-Dietz Syndrome 3

MalaCards integrated aliases for Loeys-Dietz Syndrome 3:

Name: Loeys-Dietz Syndrome 3 ⁵⁷ ⁷⁵ ²⁹ ⁶ ⁷³

Loeys-Dietz Syndrome with Osteoarthritis ⁵⁷ ⁵³ ⁷⁵

Aneurysms-Osteoarthritis Syndrome ⁵⁷ ⁵³ ⁷⁵

Lds3 ⁵⁷ ⁵³ ⁷⁵

Aneurysm-Osteoarthritis Syndrome ⁵³ ⁵⁹

Loeys-Dietz Syndrome, Type 3 ⁵³ ¹³

Loeys-Dietz Syndrome, Type 1c, Formerly; Lds1c, Formerly ⁵⁷

Loeys-Dietz Syndrome, Type 1c, Formerly ⁵⁷

Aneurysm - Osteoarthritis Syndrome ⁵³

Syndrome, Loeys-Dietz, Type 3 ⁴⁰

Loeys-Dietz Syndrome Type 3 ⁵³

Loeys-Dietz Syndrome 1c ⁷⁵

Lds1c, Formerly ⁵⁷

Lds1c ⁷⁵

Aos ⁷⁵

Characteristics:

Orphanet epidemiological data:

⁵⁹

aneurysm-osteoarthritis syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

⁵⁷

Inheritance:
autosomal dominant

HPO:

³²

loeys-dietz syndrome 3:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Cardiovascular diseases Bone diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare circulatory system diseases

Rare systemic and rhumatological diseases

External Ids:

OMIM ⁵⁷ 613795

Orphanet ⁵⁹ ORPHA284984

MedGen ⁴² C3151087

MeSH ⁴⁴ D055947

SNOMED-CT via HPO ⁶⁹ 263681008 396232000 24976005 more

UMLS ⁷³ C3151087

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Summaries for Loeys-Dietz Syndrome 3

UniProtKB/Swiss-Prot : ⁷⁵ Loeys-Dietz syndrome 3: An aortic aneurysm syndrome with widespread systemic involvement. The disorder is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Patients with LDS3 also manifest early-onset osteoarthritis. They lack craniosynostosis and mental retardation.

MalaCards based summary : Loeys-Dietz Syndrome 3, also known as loeys-dietz syndrome with osteoarthritis, is related to adams-oliver syndrome and adams-oliver syndrome 1. An important gene associated with Loeys-Dietz Syndrome 3 is SMAD3 (SMAD Family Member 3), and among its related pathways/superpathways are Toll-like Receptor Signaling Pathway and Mesodermal Commitment Pathway. Affiliated tissues include bone and skin, and related phenotypes are hypertelorism and high palate

Description from OMIM: 613795

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Related Diseases for Loeys-Dietz Syndrome 3

Diseases related to Loeys-Dietz Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)

#	Related Disease	Score
1	adams-oliver syndrome	12.0
2	adams-oliver syndrome 1	11.6
3	atelosteogenesis, type ii	11.2
4	adams-oliver syndrome 5	11.0
5	oliver syndrome	11.0
6	progressive supranuclear palsy-progressive non-fluent aphasia syndrome	10.9
7	aplasia cutis congenita, nonsyndromic	10.9
8	supravalvular aortic stenosis	10.9
9	aortic valve disease 2	10.9
10	adams-oliver syndrome 4	10.9
11	adams-oliver syndrome 6	10.9
12	progressive non-fluent aphasia	10.9
13	osteoarthritis	10.2
14	aneurysm	10.2
15	loeys-dietz syndrome	10.1
16	ovarian cancer	10.0
17	asthma	9.9
18	atelosteogenesis	9.9
19	aortic aneurysm, familial thoracic 1	9.8
20	aortic aneurysm	9.8
21	intracranial hypotension	9.8
22	spontaneous intracranial hypotension	9.8
23	pick disease of brain	9.8
24	schizophrenia	9.8
25	malaria	9.8
26	angina pectoris	9.8
27	osteochondritis dissecans	9.8
28	spinal cord injury	9.8
29	apraxia	9.8
30	hereditary spherocytosis	9.8
31	neovascular glaucoma	9.8
32	blood group incompatibility	9.8
33	blepharitis	9.8
34	skeletal dysplasias	9.8
35	primary progressive apraxia of speech	9.8

Graphical network of the top 20 diseases related to Loeys-Dietz Syndrome 3:

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Symptoms & Phenotypes for Loeys-Dietz Syndrome 3

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Eyes:
hypertelorism

Abdomen External Features:
inguinal hernia
umbilical hernia

Skeletal Feet:
pes planus
foot osteoarthritis

Cardiovascular Heart:
left ventricular hypertrophy
mitral valve prolapse
atrial fibrillation
aortic insufficiency
mitral valve regurgitation
more

Skeletal Pelvis:
protrusio acetabuli
hip osteoarthritis

Genitourinary Internal Genitalia Female:
uterine prolapse

Skin Nails Hair Skin:
easy bruisability
atrophic scarring
striae
skin velvety

Chest Ribs Sternum Clavicles And Scapulae:
pectus deformity

Skeletal:
osteoporosis (rare)

Skeletal Spine:
scoliosis
dural ectasia
spondylolisthesis
intervertebral disc degeneration
facet joint osteoarthritis
more

Head And Neck Teeth:
dental malocclusion

Cardiovascular Vascular:
aortic dissection
aortic aneurysm
arterial tortuosity
arterial aneurysm
persistent ductus arteriosus (rare)
more

Skeletal Hands:
arachnodactyly
camptodactyly
hand osteoarthritis

Skeletal Limbs:
joint laxity
osteochondritis dissecans
long bone overgrowth (dolichostenomelia)
knee osteoarthritis
meniscal lesions
more

Head And Neck Mouth:
high-arched palate
cleft palate (rare)
abnormal uvula

Genitourinary Bladder:
bladder prolapse

Abdomen Gastrointestinal:
bowel prolapse

Clinical features from OMIM:

613795

Human phenotypes related to Loeys-Dietz Syndrome 3:

³² (show all 33)

#	Description	HPO Frequency	HPO Source Accession
1	hypertelorism ³²		HP:0000316
2	high palate ³²		HP:0000218
3	scoliosis ³²		HP:0002650
4	inguinal hernia ³²		HP:0000023
5	dental malocclusion ³²		HP:0000689
6	umbilical hernia ³²		HP:0001537
7	pes planus ³²		HP:0001763
8	osteoporosis ³²	occasional (7.5%)	HP:0000939
9	cleft palate ³²	occasional (7.5%)	HP:0000175
10	patent ductus arteriosus ³²	occasional (7.5%)	HP:0001643
11	aortic dissection ³²		HP:0002647
12	mitral regurgitation ³²		HP:0001653
13	left ventricular hypertrophy ³²		HP:0001712
14	striae distensae ³²		HP:0001065
15	arachnodactyly ³²		HP:0001166
16	mitral valve prolapse ³²		HP:0001634
17	protrusio acetabuli ³²		HP:0003179
18	dural ectasia ³²		HP:0100775
19	spondylolisthesis ³²		HP:0003302
20	joint laxity ³²		HP:0001388
21	bruising susceptibility ³²		HP:0000978
22	pulmonic stenosis ³²	occasional (7.5%)	HP:0001642
23	abnormality of the sternum ³²		HP:0000766
24	atrial fibrillation ³²		HP:0005110
25	aortic regurgitation ³²		HP:0001659
26	camptodactyly ³²		HP:0012385
27	aortic aneurysm ³²		HP:0004942
28	intervertebral disc degeneration ³²		HP:0008419
29	uterine prolapse ³²		HP:0000139
30	arterial tortuosity ³²		HP:0005116
31	hip osteoarthritis ³²		HP:0008843
32	osteochondritis dissecans ³²		HP:0010886
33	knee osteoarthritis ³²		HP:0005086

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Drugs & Therapeutics for Loeys-Dietz Syndrome 3

Search Clinical Trials , NIH Clinical Center for Loeys-Dietz Syndrome 3

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Genetic Tests for Loeys-Dietz Syndrome 3

Genetic tests related to Loeys-Dietz Syndrome 3:

#	Genetic test	Affiliating Genes
1	Loeys-Dietz Syndrome 3 ²⁹	SMAD3

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Anatomical Context for Loeys-Dietz Syndrome 3

MalaCards organs/tissues related to Loeys-Dietz Syndrome 3:

⁴¹

Bone, Skin

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Publications for Loeys-Dietz Syndrome 3

Articles related to Loeys-Dietz Syndrome 3:

#	Title	Authors	Year
1	[Loeys-Dietz Syndrome, 3 generations, 4 familial cases]. ( 28737872 )	Rosental C.F....Capelli H.	2017

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Genes for Loeys-Dietz Syndrome 3

Genes related to Loeys-Dietz Syndrome 3 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SMAD3	SMAD Family Member 3	Protein Coding	1704.12	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	21217753 20301312 23788249 (more) 25173340 25356965 27854360 21778426 21815248 22167769
2	SMAD6	SMAD Family Member 6	Protein Coding	19.34	GeneCards inferred via : Variants (show sections)

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Variations for Loeys-Dietz Syndrome 3

UniProtKB/Swiss-Prot genetic disease variations for Loeys-Dietz Syndrome 3:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	SMAD3	p.Thr261Ile	VAR_065578	rs387906851
2	SMAD3	p.Arg287Trp	VAR_065579	rs387906850
3	SMAD3	p.Glu239Lys	VAR_067047	rs387906853
4	SMAD3	p.Arg279Lys	VAR_067048	rs387906852
5	SMAD3	p.Ala112Val	VAR_067051	rs387906854

ClinVar genetic disease variations for Loeys-Dietz Syndrome 3:

⁶

(show top 50) (show all 116)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	SMAD3	NM_005902.3(SMAD3): c.859C> T (p.Arg287Trp)	single nucleotide variant	Pathogenic/Likely pathogenic	rs387906850	GRCh37	Chromosome 15, 67473779: 67473779
2	SMAD3	NM_005902.3(SMAD3): c.859C> T (p.Arg287Trp)	single nucleotide variant	Pathogenic/Likely pathogenic	rs387906850	GRCh38	Chromosome 15, 67181441: 67181441
3	SMAD3	NM_005902.3(SMAD3): c.741_742delAT (p.Phe248Profs)	deletion	Pathogenic	rs587776880	GRCh38	Chromosome 15, 67181323: 67181324
4	SMAD3	NM_005902.3(SMAD3): c.741_742delAT (p.Phe248Profs)	deletion	Pathogenic	rs587776880	GRCh37	Chromosome 15, 67473661: 67473662
5	SMAD3	NM_005902.3(SMAD3): c.782C> T (p.Thr261Ile)	single nucleotide variant	Pathogenic	rs387906851	GRCh37	Chromosome 15, 67473702: 67473702
6	SMAD3	NM_005902.3(SMAD3): c.782C> T (p.Thr261Ile)	single nucleotide variant	Pathogenic	rs387906851	GRCh38	Chromosome 15, 67181364: 67181364
7	SMAD3	NM_005902.3(SMAD3): c.653delA (p.Asn218Thrfs)	deletion	Pathogenic	rs587776881	GRCh38	Chromosome 15, 67170599: 67170599
8	SMAD3	NM_005902.3(SMAD3): c.653delA (p.Asn218Thrfs)	deletion	Pathogenic	rs587776881	GRCh37	Chromosome 15, 67462937: 67462937
9	SMAD3	NM_005902.3(SMAD3): c.836G> A (p.Arg279Lys)	single nucleotide variant	Pathogenic	rs387906852	GRCh37	Chromosome 15, 67473756: 67473756
10	SMAD3	NM_005902.3(SMAD3): c.836G> A (p.Arg279Lys)	single nucleotide variant	Pathogenic	rs387906852	GRCh38	Chromosome 15, 67181418: 67181418
11	SMAD3	NM_005902.3(SMAD3): c.313delG (p.Ala105Profs)	deletion	Pathogenic	rs587776882	GRCh38	Chromosome 15, 67165001: 67165001
12	SMAD3	NM_005902.3(SMAD3): c.313delG (p.Ala105Profs)	deletion	Pathogenic	rs587776882	GRCh37	Chromosome 15, 67457339: 67457339
13	SMAD3	NM_005902.3(SMAD3): c.1081G> T (p.Glu361Ter)	single nucleotide variant	Pathogenic	rs387906856	GRCh37	Chromosome 15, 67479774: 67479774
14	SMAD3	NM_005902.3(SMAD3): c.1081G> T (p.Glu361Ter)	single nucleotide variant	Pathogenic	rs387906856	GRCh38	Chromosome 15, 67187436: 67187436
15	SMAD3	NM_005902.3(SMAD3): c.455C> A (p.Pro152Gln)	single nucleotide variant	Uncertain significance	rs375574124	GRCh37	Chromosome 15, 67457645: 67457645
16	SMAD3	NM_005902.3(SMAD3): c.455C> A (p.Pro152Gln)	single nucleotide variant	Uncertain significance	rs375574124	GRCh38	Chromosome 15, 67165307: 67165307
17	SMAD6	NM_005585.4(SMAD6): c.120C> A (p.Gly40=)	single nucleotide variant	Benign	rs149612008	GRCh38	Chromosome 15, 66703378: 66703378
18	SMAD6	NM_005585.4(SMAD6): c.120C> A (p.Gly40=)	single nucleotide variant	Benign	rs149612008	GRCh37	Chromosome 15, 66995716: 66995716
19	SMAD6	NM_005585.4(SMAD6): c.120C> T (p.Gly40=)	single nucleotide variant	Benign	rs149612008	GRCh38	Chromosome 15, 66703378: 66703378
20	SMAD6	NM_005585.4(SMAD6): c.120C> T (p.Gly40=)	single nucleotide variant	Benign	rs149612008	GRCh37	Chromosome 15, 66995716: 66995716
21	SMAD6	NM_005585.4(SMAD6): c.264C> G (p.Gly88=)	single nucleotide variant	Likely benign	rs547033777	GRCh38	Chromosome 15, 66703522: 66703522
22	SMAD6	NM_005585.4(SMAD6): c.264C> G (p.Gly88=)	single nucleotide variant	Likely benign	rs547033777	GRCh37	Chromosome 15, 66995860: 66995860
23	SMAD6	NM_005585.4(SMAD6): c.447C> T (p.Ala149=)	single nucleotide variant	Benign	rs181184476	GRCh37	Chromosome 15, 66996043: 66996043
24	SMAD6	NM_005585.4(SMAD6): c.447C> T (p.Ala149=)	single nucleotide variant	Benign	rs181184476	GRCh38	Chromosome 15, 66703705: 66703705
25	SMAD6	NM_005585.4(SMAD6): c.817+9G> C	single nucleotide variant	Benign	rs200726236	GRCh38	Chromosome 15, 66704084: 66704084
26	SMAD6	NM_005585.4(SMAD6): c.817+9G> C	single nucleotide variant	Benign	rs200726236	GRCh37	Chromosome 15, 66996422: 66996422
27	SMAD6	NM_005585.4(SMAD6): c.909G> A (p.Thr303=)	single nucleotide variant	Benign	rs139719094	GRCh37	Chromosome 15, 67008793: 67008793
28	SMAD6	NM_005585.4(SMAD6): c.909G> A (p.Thr303=)	single nucleotide variant	Benign	rs139719094	GRCh38	Chromosome 15, 66716455: 66716455
29	SMAD3	NM_005902.3(SMAD3): c.228G> T (p.Gln76His)	single nucleotide variant	Uncertain significance	rs886041046	GRCh37	Chromosome 15, 67457254: 67457254
30	SMAD3	NM_005902.3(SMAD3): c.228G> T (p.Gln76His)	single nucleotide variant	Uncertain significance	rs886041046	GRCh38	Chromosome 15, 67164916: 67164916
31	SMAD6	NM_005585.4(SMAD6): c.711C> T (p.His237=)	single nucleotide variant	Benign	rs144415105	GRCh38	Chromosome 15, 66703969: 66703969
32	SMAD6	NM_005585.4(SMAD6): c.711C> T (p.His237=)	single nucleotide variant	Benign	rs144415105	GRCh37	Chromosome 15, 66996307: 66996307
33	SMAD6	NM_005585.4(SMAD6): c.841C> G (p.Arg281Gly)	single nucleotide variant	Likely benign	rs200004068	GRCh38	Chromosome 15, 66711691: 66711691
34	SMAD6	NM_005585.4(SMAD6): c.841C> G (p.Arg281Gly)	single nucleotide variant	Likely benign	rs200004068	GRCh37	Chromosome 15, 67004029: 67004029
35	SMAD6	NM_005585.4(SMAD6): c.1167C> T (p.Phe389=)	single nucleotide variant	Benign	rs12591946	GRCh38	Chromosome 15, 66781211: 66781211
36	SMAD6	NM_005585.4(SMAD6): c.1167C> T (p.Phe389=)	single nucleotide variant	Benign	rs12591946	GRCh37	Chromosome 15, 67073549: 67073549
37	SMAD6	NM_005585.4(SMAD6): c.75C> T (p.Gly25=)	single nucleotide variant	Uncertain significance	rs755856670	GRCh37	Chromosome 15, 66995671: 66995671
38	SMAD6	NM_005585.4(SMAD6): c.75C> T (p.Gly25=)	single nucleotide variant	Uncertain significance	rs755856670	GRCh38	Chromosome 15, 66703333: 66703333
39	SMAD6	NM_005585.4(SMAD6): c.290G> A (p.Gly97Glu)	single nucleotide variant	Uncertain significance	rs566777509	GRCh38	Chromosome 15, 66703548: 66703548
40	SMAD6	NM_005585.4(SMAD6): c.290G> A (p.Gly97Glu)	single nucleotide variant	Uncertain significance	rs566777509	GRCh37	Chromosome 15, 66995886: 66995886
41	SMAD6	NM_005585.4(SMAD6): c.956C> T (p.Ala319Val)	single nucleotide variant	Likely benign	rs148705603	GRCh38	Chromosome 15, 66781000: 66781000
42	SMAD6	NM_005585.4(SMAD6): c.956C> T (p.Ala319Val)	single nucleotide variant	Likely benign	rs148705603	GRCh37	Chromosome 15, 67073338: 67073338
43	SMAD6	NM_005585.4(SMAD6): c.61G> A (p.Asp21Asn)	single nucleotide variant	Benign	rs188799901	GRCh37	Chromosome 15, 66995657: 66995657
44	SMAD6	NM_005585.4(SMAD6): c.61G> A (p.Asp21Asn)	single nucleotide variant	Benign	rs188799901	GRCh38	Chromosome 15, 66703319: 66703319
45	SMAD6	NM_005585.4(SMAD6): c.362G> A (p.Cys121Tyr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs80232004	GRCh38	Chromosome 15, 66703620: 66703620
46	SMAD6	NM_005585.4(SMAD6): c.362G> A (p.Cys121Tyr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs80232004	GRCh37	Chromosome 15, 66995958: 66995958
47	SMAD6	NM_005585.4(SMAD6): c.79_84delAGCGGC (p.Ser27_Gly28del)	deletion	Uncertain significance		GRCh38	Chromosome 15, 66703337: 66703342
48	SMAD6	NM_005585.4(SMAD6): c.79_84delAGCGGC (p.Ser27_Gly28del)	deletion	Uncertain significance		GRCh37	Chromosome 15, 66995675: 66995680
49	SMAD6	NM_005585.4(SMAD6): c.841C> T (p.Arg281Trp)	single nucleotide variant	Uncertain significance	rs200004068	GRCh38	Chromosome 15, 66711691: 66711691
50	SMAD6	NM_005585.4(SMAD6): c.841C> T (p.Arg281Trp)	single nucleotide variant	Uncertain significance	rs200004068	GRCh37	Chromosome 15, 67004029: 67004029

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Expression for Loeys-Dietz Syndrome 3

Search GEO for disease gene expression data for Loeys-Dietz Syndrome 3.

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Pathways for Loeys-Dietz Syndrome 3

Pathways related to Loeys-Dietz Syndrome 3 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	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	12.11	SMAD3 SMAD6
2	Mesodermal Commitment Pathway ¹ Show member pathways Endoderm Differentiation ¹	11.64	SMAD3 SMAD6
3	TGF-beta signaling pathway (KEGG) ³⁷	10.88	SMAD3 SMAD6
4	TGF-beta Receptor Signaling (WikiPathways) ¹	10.39	SMAD3 SMAD6

Sources

GO Terms for Loeys-Dietz Syndrome 3

Cellular components related to Loeys-Dietz Syndrome 3 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	transcription factor complex	GO:0005667	8.62	SMAD3 SMAD6

Biological processes related to Loeys-Dietz Syndrome 3 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of apoptotic process	GO:0043066	9.4	SMAD3 SMAD6
2	immune response	GO:0006955	9.37	SMAD3 SMAD6
3	negative regulation of cell proliferation	GO:0008285	9.32	SMAD3 SMAD6
4	transforming growth factor beta receptor signaling pathway	GO:0007179	9.26	SMAD3 SMAD6
5	negative regulation of transforming growth factor beta receptor signaling pathway	GO:0030512	9.16	SMAD3 SMAD6
6	ureteric bud development	GO:0001657	8.96	SMAD3 SMAD6
7	positive regulation of pri-miRNA transcription by RNA polymerase II	GO:1902895	8.62	SMAD3 SMAD6

Molecular functions related to Loeys-Dietz Syndrome 3 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	chromatin binding	GO:0003682	9.37	SMAD3 SMAD6
2	RNA polymerase II proximal promoter sequence-specific DNA binding	GO:0000978	9.32	SMAD3 SMAD6
3	ubiquitin protein ligase binding	GO:0031625	9.26	SMAD3 SMAD6
4	transcription regulatory region DNA binding	GO:0044212	9.16	SMAD3 SMAD6
5	R-SMAD binding	GO:0070412	8.96	SMAD3 SMAD6
6	co-SMAD binding	GO:0070410	8.62	SMAD3 SMAD6

Sources

Sources for Loeys-Dietz Syndrome 3

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