Ehlers-Danlos Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: EHL001 MIFTS: 63	Ehlers-Danlos Syndrome Categories: Blood diseases, Bone diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Ehlers-Danlos Syndrome

MalaCards integrated aliases for Ehlers-Danlos Syndrome:

Name: Ehlers-Danlos Syndrome ¹² ⁷⁷ ²⁶ ³⁸ ³⁰ ⁵⁶ ⁶ ⁴⁴ ⁴⁵ ¹⁵ ⁷⁴

Elastic Skin ¹² ⁵⁶

Eds ⁵⁴ ²⁶

Ehlers-Danlos Syndromes ⁵⁴

Syndrome, Ehlers-Danlos ⁴¹

Ehlers Danlos Syndrome ⁵⁴

Ehlers Danlos Disease ²⁶

Cutis Hyperelastica ¹²

Ed Syndrome ⁵⁴

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Skin diseases Bone diseases Oral diseases Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Congenital malformations of the musculoskeletal system, not elsewhere classified

Ehlers-Danlos syndrome

External Ids:

Disease Ontology ¹² DOID:13359

KEGG ³⁸ H00802

ICD9CM ³⁶ 756.83

MeSH ⁴⁵ D004535

NCIt ⁵¹ C34568

SNOMED-CT ⁶⁹ 2300005

ICD10 ³⁴ Q79.6

UMLS ⁷⁴ C0013720

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Summaries for Ehlers-Danlos Syndrome

NIH Rare Diseases : ⁵⁴ Ehlers-Danlos syndromes (EDS) are a group of inheritedconnective tissue disorders caused by abnormalities in the structure, production, and/or processing of collagen. The new classification, from 2017, includes 13 subtypes of EDS. Although other forms of the condition may exist, they are extremely rare and are not well-characterized. The signs and symptoms of EDS vary by type and range from mildly loose joints to life-threatening complications. Features shared by many types include joint hypermobility and soft, velvety skin that is highly elastic (stretchy) and bruises easily. Mutations in a variety of genes may lead to EDS; however, the underlying genetic cause in some families is unknown. Depending on the subtype, EDS may be inherited in an autosomal dominant or an autosomal recessive manner. There is no specific cure for EDS. The treatment and management is focused on preventing serious complications and relieving associated signs and symptoms. Please visit the following link from the Ehlers-Danlos Society to learn more about the new classification and the different subtypes: https://ehlers-danlos.com/eds-types/

MalaCards based summary : Ehlers-Danlos Syndrome, also known as elastic skin, is related to ehlers-danlos syndrome, vascular type and ehlers-danlos syndrome, classic-like, and has symptoms including back pain, sciatica and muscle cramp. An important gene associated with Ehlers-Danlos Syndrome is COL3A1 (Collagen Type III Alpha 1 Chain), and among its related pathways/superpathways are Focal adhesion and ECM-receptor interaction. The drugs Celiprolol and Adrenergic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and heart, and related phenotypes are growth/size/body region and integument

Disease Ontology : ¹² A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules.

Genetics Home Reference : ²⁶ Ehlers-Danlos syndrome is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of these conditions, which range from mildly loose joints to life-threatening complications.

MedlinePlus : ⁴⁴ Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that weaken connective tissues. Connective tissues are proteins that support skin, bones, blood vessels, and other organs. EDS usually affects your skin, joints and blood vessel walls. Symptoms include Loose joints Fragile, small blood vessels Abnormal scar formation and wound healing Soft, velvety, stretchy skin that bruises easily There are several types of EDS. They can range from mild to life-threatening. About 1 in 5,000 people has EDS. There is no cure. Treatment involves managing symptoms, often with medicines and physical therapy. It also includes learning how to protect your joints and prevent injuries.

Wikipedia : ⁷⁷ Ehlers–Danlos syndromes (EDS) are a group of genetic connective tissue disorders. Symptoms may include... more...

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Related Diseases for Ehlers-Danlos Syndrome

Diseases in the Ehlers-Danlos Syndrome family:

Ehlers-Danlos Syndrome, Type V	Type I Ehlers-Danlos Syndrome
Autosomal Recessive Type Iv Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome Type 2
Ehlers-Danlos Syndrome Type 7a	Ehlers-Danlos Syndrome Type 7b

Diseases related to Ehlers-Danlos Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 604)

#	Related Disease	Score	Top Affiliating Genes
1	ehlers-danlos syndrome, vascular type	35.2	COL3A1 COL5A1
2	ehlers-danlos syndrome, classic-like	34.8	AEBP1 TNXB
3	ehlers-danlos syndrome, classic type, 2	34.6	COL1A1 COL3A1 COL5A1 COL5A2
4	hypermobile ehlers-danlos syndrome	34.4	COL1A1 FKBP14 PLOD1
5	ehlers-danlos syndrome, classic type, 1	34.4	COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
6	classic ehlers-danlos syndrome	34.3	COL1A1 COL1A2 COL5A1 COL5A2 TNXB
7	ehlers-danlos syndrome progeroid type	34.2	B3GALT6 B4GALT7
8	spondylodysplastic ehlers-danlos syndrome	34.1	B3GALT6 B4GALT7
9	musculocontractural ehlers-danlos syndrome	34.1	CHST14 DSE
10	brittle cornea syndrome 2	33.8	CHST14 COL5A1 PLOD1
11	connective tissue disease	32.0	ADAMTS2 COL1A1 COL1A2 COL3A1 COL5A1 PLOD1
12	hypermobility syndrome	31.5	C1R COL3A1 COL5A1 TNXB
13	ehlers-danlos/osteogenesis imperfecta syndrome	31.3	COL1A1 COL1A2
14	brittle bone disorder	31.3	COL1A1 COL1A2 COL3A1
15	marfan syndrome	31.2	COL1A2 COL3A1 COL5A2
16	pelvic organ prolapse	30.7	COL1A1 COL3A1 TNXB
17	hypomelanosis of ito	30.6	COL5A1 PLOD1
18	cervical incompetence	30.6	COL5A2 PLOD1
19	scoliosis	30.3	COL1A1 COL1A2 PLOD1
20	congenital contractures	30.3	CHST14 PLOD1
21	ehlers-danlos syndrome, hypermobility type	13.1
22	ehlers-danlos syndrome, spondylodysplastic type, 3	13.0
23	ehlers-danlos syndrome, dermatosparaxis type	13.0
24	ehlers-danlos syndrome, kyphoscoliotic type, 2	13.0
25	ehlers-danlos syndrome, cardiac valvular type	13.0
26	ehlers-danlos syndrome, kyphoscoliotic type, 1	13.0
27	ehlers-danlos syndrome, periodontal type, 1	12.9
28	ehlers-danlos syndrome, arthrochalasia type, 1	12.9
29	ehlers-danlos syndrome, arthrochalasia type, 2	12.9
30	ehlers-danlos syndrome, musculocontractural type, 2	12.9
31	ehlers-danlos syndrome, spondylodysplastic type, 2	12.9
32	ehlers-danlos syndrome, musculocontractural type, 1	12.9
33	ehlers-danlos syndrome, classic-like, 2	12.8
34	kyphoscoliotic ehlers-danlos syndrome	12.8
35	ehlers-danlos syndrome, periodontal type, 2	12.8
36	arthrochalasia ehlers-danlos syndrome	12.8
37	ehlers-danlos syndrome, spondylodysplastic type, 1	12.8
38	periodontal ehlers-danlos syndrome	12.8
39	polymicrogyria with or without vascular-type ehlers-danlos syndrome	12.7
40	ehlers-danlos syndrome, type v	12.7
41	ehlers-danlos syndrome with platelet dysfunction from fibronectin abnormality	12.6
42	plod1-related kyphoscoliotic ehlers-danlos syndrome	12.6
43	type i ehlers-danlos syndrome	12.5
44	b4galt7-related spondylodysplastic ehlers-danlos syndrome	12.5
45	fkbp14 kyphoscoliotic ehlers-danlos syndrome	12.4
46	ehlers-danlos syndrome type 2	12.4
47	ehlers-danlos syndrome type 7a	12.4
48	ehlers-danlos syndrome, fibronectinemic type	12.4
49	ehlers-danlos syndrome, autosomal dominant, type unspecified	12.4
50	ehlers-danlos syndrome, beasley-cohen type	12.4

Graphical network of the top 20 diseases related to Ehlers-Danlos Syndrome:

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Symptoms & Phenotypes for Ehlers-Danlos Syndrome

UMLS symptoms related to Ehlers-Danlos Syndrome:

back pain, sciatica, muscle cramp

MGI Mouse Phenotypes related to Ehlers-Danlos Syndrome:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	9.96	ADAMTS2 AEBP1 CHST14 COL1A1 COL1A2 COL3A1
2	integument	MP:0010771	9.93	ADAMTS2 AEBP1 CHST14 COL1A1 COL1A2 COL3A1
3	cardiovascular system	MP:0005385	9.92	CHST14 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
4	limbs/digits/tail	MP:0005371	9.35	AEBP1 CHST14 COL1A1 COL1A2 DSE
5	skeleton	MP:0005390	9.17	ADAMTS2 CHST14 COL1A1 COL1A2 COL5A2 PLOD1

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Drugs & Therapeutics for Ehlers-Danlos Syndrome

Drugs for Ehlers-Danlos Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 48)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Celiprolol

Approved, Investigational

Phase 4

56980-93-9

Adrenergic Agents

Phase 4

Peripheral Nervous System Agents

Phase 4

Vasodilator Agents

Phase 4

Anti-Arrhythmia Agents

Phase 4

Neurotransmitter Agents

Phase 4

Antihypertensive Agents

Phase 4,Phase 3

Adrenergic beta-1 Receptor Antagonists

Phase 4

Adrenergic beta-Antagonists

Phase 4

Adrenergic Antagonists

Phase 4

Autonomic Agents

Phase 4

Sympathomimetics

Phase 4

Angiotensin II

Approved, Investigational

Phase 3

11128-99-7, 68521-88-0, 4474-91-3

172198

Irbesartan

Approved, Investigational

Phase 3

138402-11-6

3749

Copper

Approved, Investigational

Phase 3

7440-50-8

27099

Serine

Approved, Nutraceutical

Phase 3

56-45-1

5951

Histidine

Approved, Nutraceutical

Phase 3

71-00-1

6274

Micronutrients

Phase 3,Not Applicable

Nutrients

Phase 3,Not Applicable

Trace Elements

Phase 3,Not Applicable

Angiotensin II Type 2 Receptor Blockers

Phase 3

protease inhibitors

Phase 3

Angiotensin Receptor Antagonists

Phase 3

Giapreza

Phase 3

HIV Protease Inhibitors

Phase 3

Angiotensinogen

Phase 3

Vasoconstrictor Agents

Phase 3

Angiotensin II Type 1 Receptor Blockers

Phase 3

Serine Proteinase Inhibitors

Phase 3

Mecasermin

Approved, Investigational

Not Applicable

68562-41-4

Parathyroid hormone

Approved, Investigational

Not Applicable

9002-64-6

Petrolatum

Approved, Investigational

Not Applicable

8009-03-8

Calcium polycarbophil

Approved

Not Applicable

126040-58-2

Acetylcholine

Approved, Investigational

Not Applicable

51-84-3

187

Ethanol

Approved

Not Applicable

64-17-5

702

Folic Acid

Approved, Nutraceutical, Vet_approved

Not Applicable

59-30-3

6037

Riboflavin

Approved, Investigational, Nutraceutical, Vet_approved

Not Applicable

83-88-5

493570

Dermatologic Agents

Not Applicable

Vitamin B Complex

Not Applicable

Vitamin B2

Not Applicable

Folate

Not Applicable

Vitamins

Not Applicable

Vitamin B9

Not Applicable

Photosensitizing Agents

Not Applicable

Psyllium

Not Applicable

Antibodies

Immunologic Factors

Immunoglobulins

Interventional clinical trials:

(show all 38)

#	Name	Status	NCT ID	Phase	Drugs
1	Celiprolol in Patients With Ehlers-Danlos Syndrome, Vascular Type	Completed	NCT00190411	Phase 4	celiprolol;Control
2	Angiotensin II Receptor Blockade in Vascular Ehlers Danlos Syndrome (ARCADE)	Recruiting	NCT02597361	Phase 3	Irbesartan;Placebo
3	Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper Deficiency	Active, not recruiting	NCT00811785	Phase 3	Copper Histidine
4	Mind-Body Therapy for Pain in Ehlers-Danlos Syndrome	Completed	NCT00001966	Phase 2	Mind-body therapy
5	Riboflavin Corneal Crosslinking for Brittle Cornea Syndrome and Ehlers-Danlos Syndrome Type VI	Unknown status	NCT01307527	Not Applicable	Riboflavin
6	Development of a Blood Test for Marfan Syndrome	Unknown status	NCT02148900
7	The Comorbidity of Benign Hypermobility Joint Syndrome and Functional Constipation in Children	Unknown status	NCT02854098
8	Patient Education Program and Ehlers-Danlos Syndrome	Completed	NCT02817490
9	Biomarkers in Vascular Ehlers-Danlos Syndrome	Completed	NCT02165085
10	Obstructive Sleep Apnoea in Ehlers-Danlos Syndrome	Completed	NCT02435745
11	Obstructive Sleep Apnoea in Children and Adolescents With Ehlers-Danlos Syndrome	Completed	NCT02712060
12	Head Circumference Growth in Children With Ehlers-Danlos Syndrome Who Develop Dysautonomia Later in Life	Completed	NCT01367977
13	Vascular Fundus Changes in Patients With High Probability of Chronic Cerebrospinal Venous Insufficiency (CCSVI)	Completed	NCT01356134
14	IGF-I Stimulation of Collagen Synthesis in Ehlers-Danlos Patients	Completed	NCT01446783	Not Applicable	mecasermin;Saline
15	Non-Invasive Quantitative Imaging of Human Local Arterial Wall Elasticity Using Supersonic Shear Imaging	Completed	NCT01096264	Not Applicable
16	Studies of Heritable Disorders of Connective Tissue	Completed	NCT00270686
17	Study of Heritable Connective Tissue Disorders	Completed	NCT00001641
18	National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions	Completed	NCT01322165
19	Compare the Aesthetic Effect of Different Thyroidectomies	Completed	NCT03239769	Not Applicable
20	Effects of Different Support Surfaces on the Properties Skin After Loading	Completed	NCT02930590	Not Applicable
21	Study of Arterial Properties by Ultra-high Frequency Ultrasound in Fibromuscular Dysplasia and Vascular Ehlers-Danlos Syndrome	Recruiting	NCT03596437	Not Applicable
22	Wearing a Compression Garment for Patients With Hypermobility Type of Ehlers-Danlos Syndrome	Recruiting	NCT02144532	Not Applicable
23	Impact Study on Cerecare Compression Garments in the Treatment of Ehlers-Danlos Syndromes	Recruiting	NCT03451188
24	Prevalence of FODMAP Intolerance and JHS in FGID and Association With Microbiome, Dyssynergic Defecation and Dietary Intervention	Recruiting	NCT03460613	Not Applicable
25	Concentration and Attentional Deficits in POTS and Other Autonomic Neuropathies	Recruiting	NCT03681080	Not Applicable
26	Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan	Recruiting	NCT02985710	Not Applicable
27	Risk of Rupture of Aneurysms of the Thoracic Ascending Aorta (ATA) From the Dynamic Imaging	Recruiting	NCT02538822	Not Applicable
28	Pathogenetic Basis of Aortopathy and Aortic Valve Disease	Recruiting	NCT03440697
29	Two Point Discrimination	Recruiting	NCT03686748	Early Phase 1
30	Genetics of Ehlers-Danlos Syndrome	Active, not recruiting	NCT03093493
31	Standing Cognition and Co-morbidities of POTS Evaluation	Active, not recruiting	NCT03602482	Not Applicable
32	Assessment of Antibodies and Inflammatory Markers in Postural Tachycardia Syndrome	Active, not recruiting	NCT02196376
33	Investigation of Hypermobility, Biomarkers, and Pain Generators in Chronic Pain Patients	Active, not recruiting	NCT02761928
34	Origins and Impact of EDS in Connective Tissues and Skin	Enrolling by invitation	NCT02721797
35	Compression Garments on Hypermobility Type of Ehlers-Danlos Syndrome (CGhEDS)	Not yet recruiting	NCT03359135
36	Efficiency Clinical Study of NOVATEX MEDICAL Pressure Garments in Patients With Ehlers-Danlos Syndrome	Not yet recruiting	NCT03330977	Not Applicable
37	Gait Retraining in Patients With Joint Hypermobility Syndrome/Hypermobile Ehlers Danlos Syndrome	Not yet recruiting	NCT03575182	Not Applicable
38	Head Circumference Growth in Children Who Develop Multiple Sclerosis Later in Life	Withdrawn	NCT01377805

Search NIH Clinical Center for Ehlers-Danlos Syndrome

Cochrane evidence based reviews: ehlers-danlos syndrome

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Genetic Tests for Ehlers-Danlos Syndrome

Genetic tests related to Ehlers-Danlos Syndrome:

#	Genetic test	Affiliating Genes
1	Ehlers-Danlos Syndrome ³⁰

Sources

Anatomical Context for Ehlers-Danlos Syndrome

MalaCards organs/tissues related to Ehlers-Danlos Syndrome:

⁴²

Skin, Bone, Heart, Prostate, Colon, Kidney, Brain

Sources

Publications for Ehlers-Danlos Syndrome

Articles related to Ehlers-Danlos Syndrome:

(show top 50) (show all 1795)

#	Title	Authors	Year
1	Late conversion after endovascular abdominal aortic aneurysm repair in a patient with Ehlers-Danlos syndrome. ( 30619980 )	Karaolanis G...Donas KP	2019
2	Hevesi M, Chaudhry AR, Wagner ER, Moran SL. Thumb carpometacarpal arthritis in patients with Ehlers-Danlos Syndrome: non-operative and operative experiences. J Hand Surg Eur. 2019, 44: 587-94. ( 30913950 )	Taylor L...Southern S	2019
3	Bilateral Vertebral Artery Dissection and Unilateral Carotid Artery Dissection in Case of Ehlers-Danlos Syndrome Type IV. ( 30315974 )	Ohshima T...Takayasu M	2019
4	Vascular Ehlers-Danlos Syndrome: An Unusual Cause of Chronic Intestinal Failure in a Child. ( 29927864 )	Zemrani B...Bines J	2019
5	Classic Ehlers-Danlos Syndrome in a Son and Father with a Heart Transplant Performed in the Father. ( 31061749 )	Sen P...Butler MG	2019
6	Prevalence and frequency of self-perceived systemic features in people with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type. ( 30232714 )	Chan C...Nicholson LL	2019
7	Aortic Surgery Outcomes of Marfan Syndrome and Ehlers-Danlos Syndrome Patients at Teaching and Nonteaching Hospitals. ( 30287287 )	Holscher CM...Black JH	2019
8	Natural history of gastrointestinal manifestations in vascular Ehlers-Danlos syndrome: A 17-year retrospective review. ( 30357907 )	Frank M...Jeunemaitre X	2019
9	Unusual Complicated Fungal Endocarditis in a Patient With Vascular Ehlers-Danlos Syndrome. ( 30359590 )	Khalique Z...Mohiaddin R	2019
10	Bilateral Superior Semicircular Canal Dehiscence Associated with Ehlers-Danlos Syndrome: A Report of 2 Cases. ( 30385359 )	Preet K...Yang I	2019
11	Selective Shunt Occlusion of Direct Carotid-Cavernous Fistula with Vascular Ehlers-Danlos Syndrome by Multidevice Technique: A Case Report and Technical Note. ( 30391766 )	Ito Y...Takahashi JC	2019
12	Long-term treatment with linaclotide of intestinal pseudo-obstruction secondary to Ehlers-Danlos syndrome. ( 30470553 )	Bassotti G...Villanacci V	2019
13	Italian validation of the functional difficulties questionnaire (FDQ-9) and its correlation with major determinants of quality of life in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder. ( 30471081 )	Morlino S...Castori M	2019
14	Obstructive Sleep Apnoea in Children and Adolescents with Ehlers-Danlos Syndrome. ( 30485858 )	St?berl AS...Kohler M	2019
15	Periodontal Ehlers-Danlos syndrome is associated with leukoencephalopathy. ( 30535813 )	Kapferer-Seebacher I...van der Knaap MS	2019
16	Inspiratory muscle strength training improves lung function in patients with the hypermobile Ehlers-Danlos syndrome: A randomized controlled trial. ( 30569502 )	Reychler G...Manicourt D	2019
17	Condylectomy: treatment of recurrent unilateral dislocation of the temporomandibular joint in a patient with Ehlers-Danlos syndrome. ( 30598319 )	Campbell SJ...Heliotis M	2019
18	Cervical artery dissection: fibromuscular dysplasia versus vascular Ehlers-Danlos syndrome. ( 30623691 )	Henrard C...Persu A	2019
19	Use of prescription opioid and other drugs among a cohort of persons with Ehlers-Danlos syndrome: A retrospective study. ( 30624009 )	Schubart JR...Francomano C	2019
20	Anesthetic Management for Ehlers-Danlos Syndrome, Hypermobility Type Complicated by Local Anesthetic Allergy: A Case Report. ( 30626862 )	Cesare AE...Brennan KB	2019
21	Ehlers-Danlos syndrome with infective endocarditis: A case report with literature review. ( 30627513 )	Jiao Y...Turner JF	2019
22	Percutaneous Embolization of an Inferior Mesenteric Artery Aneurysm in a Patient With Type IV Ehlers-Danlos Syndrome. ( 30630391 )	Rahman Q...Stone WM	2019
23	Fragility of Life: Recurrent Intestinal Perforation Due to Vascular Ehlers-Danlos Syndrome. ( 30656563 )	Sceats LA...Kin C	2019
24	Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome. ( 30668708 )	Syx D...Malfait F	2019
25	Prevalence of Functional GI Diseases and Pelvic Floor Symptoms in Marfan Syndrome and Ehlers-Danlos Syndrome: A National Cohort Study. ( 30672816 )	Nee J...Wolf J	2019
26	Factors affecting quality of life in children and adolescents with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders. ( 30703284 )	Mu W...Bodurtha J	2019
27	Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts. ( 30716086 )	Chiarelli N...Colombi M	2019
28	Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome. ( 30759870 )	Ritelli M...Colombi M	2019
29	Severity classes in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders: a pilot study of 105 Italian patients. ( 30783660 )	Copetti M...Castori M	2019
30	Accuracy of Clinical Diagnostic Criteria for Patients with Vascular Ehlers-Danlos Syndrome in a Tertiary Referral Centre. ( 30786240 )	Henneton P...Frank M	2019
31	Vascular Type of Ehlers-Danlos Syndrome: A Case Report of an Aortic Dissection During Pregnancy. ( 30792378 )	Papadopoulos G...Veulemans V	2019
32	Accuracy of Clinical Diagnostic Criteria for Patients With Vascular Ehlers-Danlos Syndrome in a Tertiary Referral Centre. ( 30919682 )	Henneton P...Frank M	2019
33	Pain and gastrointestinal dysfunction are significant associations with psychiatric disorders in patients with Ehlers-Danlos syndrome and hypermobility spectrum disorders: a retrospective study. ( 30923956 )	Wasim S...So J	2019
34	Natural History and Surgical Management of Colonic Perforations in Vascular Ehlers-Danlos Syndrome: a Retrospective Review. ( 30946059 )	Adham S...Frank M	2019
35	Absence of lingual frenulum in children with Ehlers-Danlos Syndrome: a retrospective study of forty cases and literature review of a twenty years long debate. ( 30961343 )	Savasta S...Marseglia GL	2019
36	Re: re: Condylectomy: treatment of recurrent unilateral dislocation of the temporomandibular joint in a patient with Ehlers-Danlos syndrome. ( 30967294 )	Campbell SJ...Heliotis M	2019
37	Elastosis perforans serpiginosa related to vascular Ehlers-Danlos syndrome. ( 30982307 )	Uldall Pallesen KA...Bygum A	2019
38	Re: Condylectomy: treatment of recurrent unilateral dislocation of the temporomandibular joint in a patient with Ehlers-Danlos syndrome. ( 30992226 )	Sembronio S...Robiony M	2019
39	Hypermobile type Ehlers-Danlos syndrome associated with hypogammaglobulinemia and fibromyalgia: A case-based review on new classification, diagnosis, and multidisciplinary management. ( 30997063 )	Zhang W...Taunton DO	2019
40	Vascular Ehlers-Danlos Syndrome: Long-Term Observational Study. ( 30999998 )	Frank M...Jeunemaitre X	2019
41	Vascular Ehlers-Danlos Syndrome Management: The Paris Way, A Step Forward on a Long Road. ( 30999999 )	De Backer J...De Backer T	2019
42	Spontaneous Coronary Artery Dissection in a Patient with Undiagnosed Ehlers-Danlos Syndrome. ( 31016092 )	Nesheiwat Z...Kosinski D	2019
43	Treatment of the wide open wound in the Ehlers-Danlos syndrome. ( 31048651 )	Baik BS...Ji SY	2019
44	Celiprolol but not losartan improves the biomechanical integrity of the aorta in a mouse model of vascular Ehlers-Danlos syndrome. ( 31056650 )	Dubacher N...Matyas G	2019
45	Predictors of pain and mobility disability in the hypermobile Ehlers-Danlos syndrome. ( 31060411 )	Kalisch L...Baeza-Velasco C	2019
46	FKBP14 kyphoscoliotic Ehlers-Danlos Syndrome in adolescent patient: the first Colombian report. ( 31063316 )	Ruiz-Botero F...Pachajoa H	2019
47	Pain in hypermobile Ehlers-Danlos syndrome: New insights using new criteria. ( 31075184 )	B?nistan K...Martinez V	2019
48	Multiple Arterial Dissections in a Patient With Vascular Ehlers-Danlos Syndrome Caused by a Frameshift Mutation in COL3A1. ( 31080229 )	Yagyu T...Yasuda S	2019
49	An acquired or heritable connective tissue disorder? A review of hypermobile Ehlers Danlos Syndrome. ( 31102747 )	Martin A	2019
50	Gleno-humeral abduction measurement in patients with ehlers-danlos syndrome. ( 30885819 )	Cypel D	2019

Sources

Genes for Ehlers-Danlos Syndrome

Genes related to Ehlers-Danlos Syndrome (0 elite genes):

(show all 16)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	COL3A1	Collagen Type III Alpha 1 Chain	Protein Coding	86.77	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)	1757960 8317500 7487954 (more) 11577371 9036918 2365710 9399899 2145268 8526472 18272325 1905723 9649943 8884076 8881656 8477261 14970208 11843319 8019562 8411057 8098182 11359405 10923041 1370809 19751346 18805790 18389341 10051163 1998337 2349939 16863833 15127738 8320698 12694234 9050868 19455184 19639654 19023163 17487505 14966763 18485758 12173720 9841712 11168790 19477391 1352273 7546986
2	PLOD1	Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 1	Protein Coding	81.86	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)	15979919 8449506 9724729 (more) 8981946 15666309 20503305 7713497 9502428
3	COL5A1	Collagen Type V Alpha 1 Chain	Protein Coding	73.76	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	9499606 8950675 9042913 (more) 16431952 10602121 11992482 15095409 8673139 8923000 10777716 14970208
4	COL5A2	Collagen Type V Alpha 2 Chain	Protein Coding	71.89	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	16431952
5	ADAMTS2	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 2	Protein Coding	70.05	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	10417273 15373769 11408482 (more) 15389701 11741898 12646579
6	COL1A2	Collagen Type I Alpha 2 Chain	Protein Coding	69.56	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	1990839 15077201 10982177 (more) 8071956 1556139 16816023 10073586 9295084 18272325 1905723 17211858
7	TNXB	Tenascin XB	Protein Coding	68.98	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	11642233 11925569 16278880 (more) 15366699 15793839 16567571 12354783 18595676 15102077 17033827 17702048 17078949 15558324 16331473 12845616 9288108 17453911 12376099 18335242 20089348
8	B4GALT7	Beta-1,4-Galactosyltransferase 7	Protein Coding	68.45	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	18158310 12417421 16583246 (more) 19133250 15859521 15211654
9	COL1A1	Collagen Type I Alpha 1 Chain	Protein Coding	68.01	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	1990839 1867198 16816023 (more) 18272325 1905723 17211858 9295084 10982177
10	SLC39A13	Solute Carrier Family 39 Member 13	Protein Coding	57.07	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
11	FKBP14	FKBP Prolyl Isomerase 14	Protein Coding	56.48	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
12	C1R	Complement C1r	Protein Coding	54.63	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
13	DSE	Dermatan Sulfate Epimerase	Protein Coding	53.47	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
14	CHST14	Carbohydrate Sulfotransferase 14	Protein Coding	46.09	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
15	B3GALT6	Beta-1,3-Galactosyltransferase 6	Protein Coding	45.1	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
16	AEBP1	AE Binding Protein 1	Protein Coding	43.36	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)

Sources

Variations for Ehlers-Danlos Syndrome

ClinVar genetic disease variations for Ehlers-Danlos Syndrome:

⁶ (show all 14)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	COL3A1	NM_000090.3(COL3A1): c.3938A> G (p.Lys1313Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs111840783	GRCh37	Chromosome 2, 189875018: 189875018
2	COL3A1	NM_000090.3(COL3A1): c.3938A> G (p.Lys1313Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs111840783	GRCh38	Chromosome 2, 189010292: 189010292
3	COL3A1	NM_000090.3(COL3A1): c.754G> T (p.Gly252Cys)	single nucleotide variant	Likely pathogenic	rs587779705	GRCh37	Chromosome 2, 189855042: 189855042
4	COL3A1	NM_000090.3(COL3A1): c.754G> T (p.Gly252Cys)	single nucleotide variant	Likely pathogenic	rs587779705	GRCh38	Chromosome 2, 188990316: 188990316
5	COL5A1	NM_000093.4(COL5A1): c.5136+73G> A	single nucleotide variant	Uncertain significance	rs560195385	GRCh37	Chromosome 9, 137721963: 137721963
6	COL5A1	NM_000093.4(COL5A1): c.5136+73G> A	single nucleotide variant	Uncertain significance	rs560195385	GRCh38	Chromosome 9, 134830117: 134830117
7	COL3A1	NM_000090.3(COL3A1): c.1173delT (p.Pro392Leufs)	deletion	Likely pathogenic	rs1553507863	GRCh37	Chromosome 2, 189858787: 189858787
8	COL3A1	NM_000090.3(COL3A1): c.1173delT (p.Pro392Leufs)	deletion	Likely pathogenic	rs1553507863	GRCh38	Chromosome 2, 188994061: 188994061
9	COL3A1	NM_000090.3(COL3A1): c.1509+2T> C	single nucleotide variant	Likely pathogenic	rs1553508039	GRCh37	Chromosome 2, 189859827: 189859827
10	COL3A1	NM_000090.3(COL3A1): c.1509+2T> C	single nucleotide variant	Likely pathogenic	rs1553508039	GRCh38	Chromosome 2, 188995101: 188995101
11	FLNA	NM_001110556.2(FLNA): c.6532G> C (p.Val2178Leu)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome X, 154352418: 154352418
12	FLNA	NM_001110556.2(FLNA): c.6532G> C (p.Val2178Leu)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome X, 153580786: 153580786
13	PLOD1	NM_000302.4(PLOD1): c.775C> T (p.Arg259Cys)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 1, 11957875: 11957875
14	PLOD1	NM_000302.4(PLOD1): c.775C> T (p.Arg259Cys)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 1, 12017932: 12017932

Copy number variations for Ehlers-Danlos Syndrome from CNVD:

⁷

#	CNVD ID	Chromosom	Start	End	Type	Gene Symbol	CNVD Disease
1	197330	5	176600000	180915260	Gain		Ehlers-danlos syndrome

Sources

Expression for Ehlers-Danlos Syndrome

Search GEO for disease gene expression data for Ehlers-Danlos Syndrome.

Sources

Pathways for Ehlers-Danlos Syndrome

Pathways related to Ehlers-Danlos Syndrome according to KEGG:

³⁸

#	Name	Kegg Source Accession
1	Focal adhesion	hsa04510
2	ECM-receptor interaction	hsa04512

Pathways related to Ehlers-Danlos Syndrome according to GeneCards Suite gene sharing:

(show all 17)

#	Super pathways	Score	Top Affiliating Genes
1	Phospholipase-C Pathway ⁶⁵ Show member pathways PTEN Pathway ⁶⁵	12.84	COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
2	Focal Adhesion ¹ ³⁸ Show member pathways HGF Pathway ⁶⁵ Integrin-mediated Cell Adhesion ¹	12.5	COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 TNXB
3	Collagen chain trimerization ⁶⁷ Show member pathways Anchoring fibril formation ⁶⁷ Assembly of collagen fibrils and other multimeric structures ⁶⁷ Blood Coagulation Cascade ⁶⁵ Collagen biosynthesis and modifying enzymes ⁶⁷ Collagen formation ⁶⁷ Crosslinking of collagen fibrils ⁶⁷ Intrinsic Prothrombin Activation Pathway ⁶⁵ Protein digestion and absorption ³⁸	12.42	ADAMTS2 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
4	Chondroitin sulfate/dermatan sulfate metabolism ⁶⁷ Show member pathways A tetrasaccharide linker sequence is required for GAG synthesis ⁶⁷ chondroitin biosynthesis ¹ Chondroitin sulfate biosynthesis ⁶⁷ CS/DS degradation ⁶⁷ Defective B3GALT6 causes EDSP2 and SEMDJL1 ⁶⁷ Defective B3GAT3 causes JDSSDHD ⁶⁷ Defective B4GALT7 causes EDS, progeroid type ⁶⁷ Defective CHST14 causes EDS, musculocontractural type ⁶⁷ Defective CHST3 causes SEDCJD ⁶⁷ Defective CHSY1 causes TPBS ⁶⁷ Defective EXT1 causes exostoses 1, TRPS2 and CHDS ⁶⁷ Defective EXT2 causes exostoses 2 ⁶⁷ dermatan sulfate biosynthesis ¹ Dermatan sulfate biosynthesis ⁶⁷ dermatan sulfate biosynthesis (late stages) ¹ Diseases associated with glycosaminoglycan metabolism ⁶⁷ glycoaminoglycan-protein linkage region biosynthesis ¹ Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate ³⁸ Glypican pathway ¹ HS-GAG degradation ⁶⁷ Proteogylcan syndecan-mediated signaling events ¹	12.33	B3GALT6 B4GALT7 CHST14 DSE
5	Degradation of the extracellular matrix ⁶⁷ Show member pathways Collagen degradation ⁶⁷ Extracellular matrix organization ⁶⁷	12.21	ADAMTS2 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
6	G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins ²³ Show member pathways G-protein signaling G-Protein alpha-12 signaling pathway ²³	11.96	COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
7	ECM-receptor interaction ³⁸ Show member pathways Integrin cell surface interactions ⁶⁷	11.93	COL1A1 COL1A2 TNXB
8	Platelet activation ³⁸	11.81	COL1A1 COL1A2 COL3A1
9	Binding and Uptake of Ligands by Scavenger Receptors ⁶⁷ Show member pathways Scavenging by Class A Receptors ⁶⁷ Scavenging by Class B Receptors ⁶⁷ Scavenging by Class F Receptors ⁶⁷ Scavenging by Class H Receptors ⁶⁷ Scavenging of heme from plasma ⁶⁷	11.7	COL1A1 COL1A2 COL3A1
10	AGE-RAGE signaling pathway in diabetic complications ³⁸	11.67	COL1A1 COL1A2 COL3A1
11	Amoebiasis ³⁸	11.64	COL1A1 COL1A2 COL3A1
12	Cell adhesion_ECM remodeling ²³	11.37	COL1A1 COL1A2 COL3A1
13	Platelet Aggregation Inhibitor Pathway, Pharmacodynamics ⁶²	11.25	COL1A1 COL1A2 COL3A1
14	Inflammatory Response Pathway ¹	11.02	COL1A1 COL1A2 COL3A1
15	VEGFR3 signaling in lymphatic endothelium ¹	10.92	COL1A1 COL1A2
16	G-protein signaling_Rap2B regulation pathway ²³	10.73	COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
17	miRNA targets in ECM and membrane receptors ¹	10.65	COL1A2 COL3A1 COL5A1 COL5A2 TNXB

Sources

GO Terms for Ehlers-Danlos Syndrome

Cellular components related to Ehlers-Danlos Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	Golgi apparatus	GO:0005794	9.95	B3GALT6 B4GALT7 CHST14 COL1A1 DSE SLC39A13
2	endoplasmic reticulum lumen	GO:0005788	9.73	COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 FKBP14
3	collagen trimer	GO:0005581	9.55	COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
4	extracellular matrix	GO:0031012	9.5	ADAMTS2 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
5	collagen type V trimer	GO:0005588	9.37	COL5A1 COL5A2
6	collagen type I trimer	GO:0005584	9.32	COL1A1 COL1A2
7	collagen-containing extracellular matrix	GO:0062023	9.23	ADAMTS2 AEBP1 COL1A1 COL1A2 COL3A1 COL5A1
8	extracellular region	GO:0005576	10.06	ADAMTS2 AEBP1 C1R COL1A1 COL1A2 COL3A1
9	extracellular space	GO:0005615	10.03	AEBP1 C1R COL1A1 COL1A2 COL3A1 COL5A1
10	endoplasmic reticulum	GO:0005783	10	B3GALT6 COL1A1 COL1A2 DSE FKBP14 PLOD1

Biological processes related to Ehlers-Danlos Syndrome according to GeneCards Suite gene sharing:

(show all 18)

#	Name	GO ID	Score	Top Affiliating Genes
1	platelet activation	GO:0030168	9.73	COL1A1 COL1A2 COL3A1
2	cellular response to amino acid stimulus	GO:0071230	9.67	COL1A1 COL1A2 COL3A1 COL5A2
3	extracellular matrix organization	GO:0030198	9.63	COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 TNXB
4	blood vessel development	GO:0001568	9.62	COL1A1 COL1A2 COL3A1 COL5A1
5	chondroitin sulfate biosynthetic process	GO:0030206	9.58	B3GALT6 DSE
6	supramolecular fiber organization	GO:0097435	9.58	B4GALT7 COL3A1 COL5A1
7	heparan sulfate proteoglycan biosynthetic process	GO:0015012	9.57	B3GALT6 DSE
8	skeletal system development	GO:0001501	9.56	COL1A1 COL1A2 COL3A1 COL5A2
9	collagen metabolic process	GO:0032963	9.55	PLOD1 TNXB
10	glycosaminoglycan metabolic process	GO:0030203	9.54	B3GALT6 B4GALT7
11	protein heterotrimerization	GO:0070208	9.52	COL1A1 COL1A2
12	dermatan sulfate biosynthetic process	GO:0030208	9.51	CHST14 DSE
13	collagen biosynthetic process	GO:0032964	9.49	COL1A1 COL5A1
14	skin morphogenesis	GO:0043589	9.48	COL1A1 COL1A2
15	eye morphogenesis	GO:0048592	9.46	COL5A1 COL5A2
16	negative regulation of endodermal cell differentiation	GO:1903225	9.43	COL5A1 COL5A2
17	skin development	GO:0043588	9.35	ADAMTS2 COL1A1 COL3A1 COL5A1 COL5A2
18	collagen fibril organization	GO:0030199	9.23	ADAMTS2 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2

Molecular functions related to Ehlers-Danlos Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	integrin binding	GO:0005178	9.54	COL3A1 COL5A1 TNXB
2	protease binding	GO:0002020	9.5	COL1A1 COL1A2 COL3A1
3	platelet-derived growth factor binding	GO:0048407	9.46	COL1A1 COL1A2 COL3A1 COL5A1
4	SMAD binding	GO:0046332	9.43	COL1A2 COL3A1 COL5A2
5	galactosyltransferase activity	GO:0008378	9.4	B3GALT6 B4GALT7
6	extracellular matrix structural constituent conferring tensile strength	GO:0030020	9.35	COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
7	extracellular matrix structural constituent	GO:0005201	9.17	AEBP1 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
8	metal ion binding	GO:0046872	10.09	ADAMTS2 B4GALT7 COL1A1 COL1A2 COL3A1 COL5A1

Sources

Sources for Ehlers-Danlos Syndrome

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 EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia