EDS
MCID: EHL001
MIFTS: 55

Ehlers-Danlos Syndrome (EDS) malady

Summaries for Ehlers-Danlos Syndrome

Sources:
8Disease Ontology, 43NIH Rare Diseases, 34MedlinePlus, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Ehlers-danlos syndrome (eds) is a group of disorders that affect connective tissue, which supports the skin, bones, tendons, ligaments, blood vessels, and other organs. the signs and symptoms of eds vary by type and range from mildly loose joints to life-threatening complications. an unusually large range of joint movement (hypermobility) occurs with most forms, particularly the hypermobility type. many people with eds also have soft, velvety skin that is highly elastic and fragile. affected individuals tend to bruise easily, and some types of the condition also cause abnormal scarring. some forms of eds, notably the vascular type and kyphoscoliosis type, can involve serious and potentially life-threatening complications. eds may be caused by mutations in any one of several genes; the inheritance pattern varies by type. last updated: 3/2/2012

MalaCards: Ehlers-Danlos Syndrome, also known as ehlers danlos syndrome, is related to ehlers-danlos syndrome, hypermobility type and hypermobility syndrome. An important gene associated with Ehlers-Danlos Syndrome is COL3A1 (collagen, type III, alpha 1), and among its related pathways are Crosslinking of collagen fibrils and Anchoring fibril formation. The compounds Collagenase and nppa have been mentioned in the context of this disorder. Related mouse phenotypes are muscle and integument.

Disease Ontology:8 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.

MedlinePlus:34 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.

Genetics Home Reference:21 Ehlers-Danlos syndrome is a group of disorders that affect connective tissues, which are tissues that support the skin, bones, blood vessels, and other organs. Defects in connective tissues cause the signs and symptoms of Ehlers-Danlos syndrome, which vary from mildly loose joints to life-threatening complications.

Wikipedia:64 Ehlers–Danlos syndrome (EDS) is an inherited connective tissue disorder with different presentations... more...

Description from OMIM:47 225400,130070

Aliases & Classifications for Ehlers-Danlos Syndrome

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 34MedlinePlus, 61UMLS, 22GTR, 40NCIt, 27ICD9CM, 47OMIM, 57SNOMED-CT, 35MeSH
See all sources

Aliases & Descriptions:

ehlers-danlos syndrome 8 43 21 10 45 34 61
ehlers danlos syndrome 43 22
elastic skin 8 45
eds 43 21
ehlers danlos disease 21
cutis hyperelastica 8
ed syndrome 43


External Ids:

Disease Ontology8 DOID:13359
NCIt40 C34568
ICD9CM27 756.83
MeSH35 D004535

Related Diseases for Ehlers-Danlos Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the ehlers-danlos syndrome type iv family:

type iii ehlers-danlos syndrome type vi ehlers-danlos syndrome
type i ehlers-danlos syndrome ehlers-danlos syndrome
ehlers-danlos syndrome type 5 ehlers-danlos syndrome, type vii
ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ehlers-danlos syndrome type via
ehlers-danlos syndrome type viib ehlers-danlos syndrome, type viii

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

(show top 50)    (show all 282)
idRelated DiseaseScoreTop Affiliating Genes
1ehlers-danlos syndrome, hypermobility type31.6TNXB, COL3A1
2hypermobility syndrome31.6TNXB
3ehlers-danlos syndrome, classic type31.4COL5A2, COL5A1
4ehlers-danlos syndrome kyphoscoliotic type31.2PLOD1, PLOD2
5osteogenesis imperfecta30.9COL1A2, COL1A1, COL3A1, DSPP, CD36, PLOD2
6osteogenesis imperfecta type i30.8COL1A1, COL1A2
7otosclerosis30.5CD36, COL1A1, COL1A2
8marfan syndrome30.2COL1A2, COL3A1, CD36
9osteoporosis30.2COL1A2, COL1A1, CD36, PLOD1
10idiopathic juvenile osteoporosis30.2CD36, COL1A2
11nail-patella syndrome30.2COL5A1
12ullrich congenital muscular dystrophy30.2PLOD3, FKBP14
13osteoarthritis30.2CD36, DSPP, COL1A1, COL1A2
14dentinogenesis imperfecta29.7COL1A2, COL1A1, DSPP, CD36
15ehlers–danlos syndrome11.6
16type i ehlers-danlos syndrome11.1
17n syndrome11.0
18ehlers–danlos syndrome, vascular type11.0
19type vi ehlers-danlos syndrome11.0
20ehlers-danlos syndrome, type vii10.9
21ehlers-danlos syndrome type iv10.8
22ehlers-danlos syndrome type viib10.8
23char syndrome10.8
24ehlers-danlos syndrome dermatosparaxis type10.8
25ehlers-danlos syndrome progeroid type10.7
26conn's syndrome10.7
27ehlers-danlos syndrome, type viii10.7
28ehlers-danlos syndrome arthrochalasia type10.7
29ehlers-danlos syndrome, musculocontractural type 210.7
30ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss10.7
31ehlers-danlos syndrome, periodontitis type10.7
32ehlers–danlos syndrome classical type10.6
33ehlers-danlos syndrome, kyphoscoliotic form10.6
34ehlers-danlos/osteogenesis imperfecta syndrome10.6
35aortic aneurysm10.6
36micro syndrome10.6
37young syndrome10.6
38mass syndrome10.6
39ehlers-danlos syndrome, musculocontractural type 110.6
40ehlers-danlos syndrome, fibronectinemic type10.6
41triple-a syndrome10.6
42ehlers–danlos syndrome dermatosparaxis type10.6
43occipital horn syndrome10.6
44ehlers-danlos syndrome dysfibronectinemic type10.6
45spondylocheirodysplasia, ehlers-danlos syndrome-like10.6
46periventricular heterotopia10.6
47ehlers-danlos syndrome, progeroid type, 110.5
48ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency10.5
49ehlers-danlos syndrome, cardiac valvular form10.5
50x-linked ehlers-danlos syndrome10.5

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



Diseases related to ehlers-danlos syndrome

Clinical Features for Ehlers-Danlos Syndrome

Sources:
47OMIM
See all sources

Clinical features from OMIM:

225400,130070

Drugs & Therapeutics for Ehlers-Danlos Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Ehlers-Danlos Syndrome

Drug clinical trials:

Search ClinicalTrials for Ehlers-Danlos Syndrome

Search NIH Clinical Center for Ehlers-Danlos Syndrome

Search CenterWatch for Ehlers-Danlos Syndrome

Genetic Tests for Ehlers-Danlos Syndrome

Sources:
22GTR
See all sources

Genetic tests related to Ehlers-Danlos Syndrome:

id Genetic test Affiliating Genes
1 Ehlers-danlos Syndrome22

Anatomical Context for Ehlers-Danlos Syndrome

Animal Models for Ehlers-Danlos Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Ehlers-Danlos Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000536910.1COL5A3, COL1A1, COL3A1, CD36, PLOD1, PLOD3
2MP:00107719.5ADAMTS2, COL1A2, COL5A1, COL5A3, COL5A2, COL1A1

Publications for Ehlers-Danlos Syndrome

Sources:
51PubMed
See all sources

Articles related to Ehlers-Danlos Syndrome:

(show top 50)    (show all 744)
idTitleAuthorsYear
1
Total knee arthroplasty after former knee fusion in a patient with Ehlers Danlos syndrome. (23926740)
2013
2
Classic Ehlers-Danlos syndrome: case report and brief review of literature. (24001420)
2013
3
Liver transplantation in a patient with Ehlers-Danlos syndrome. (23447389)
2013
4
Redefining the progeroid form of Ehlers-Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature. (23956117)
2013
5
Ehlers-Danlos syndrome, hypermobility type: A characterization of the patients' lived experience. (24254846)
2013
6
Two case presentations of profound labial edema as a presenting symptom of hypermobility-type Ehlers-Danlos syndrome. (23875629)
2013
7
Vascular lesions in Ehlers-Danlos syndrome: is angiotensin II the culprit? (23630947)
2013
8
Acute first onset of Ehlers-Danlos syndrome type 4 with spontaneous rupture of posterior tibial artery pseudoaneurysm. (22871544)
2013
9
Palmoplantar contractures in childhood: a rare complication of vascular Ehlers-Danlos syndrome. (23672283)
2013
10
Clinical utility gene card for: Ehlers-Danlos syndrome types I-VII and variants - update 2012. (22892533)
2013
11
Mitral valve endocarditis in a patient with Ehlers-Danlos syndrome. (23625151)
2013
12
Unexpected association between joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type and obsessive-compulsive personality disorder. (24272065)
2013
13
Commentary on: Shields LB, Rolf CM, Davis GJ, Hunsaker JC 3rd. Sudden and unexpected death in three cases of Ehlers-Danlos syndrome type IV. J Forensic Sci 2010;55(6):1641-5. (21884125)
2011
14
Doxycycline ameliorates the susceptibility to aortic lesions in a mouse model for the vascular type of Ehlers-Danlos syndrome. (21363928)
2011
15
Residents' corner November 2011. (Carpe)DIEM - dermatological indications for electron microscopy: Ehlers Danlos syndrome. (22231911)
2011
16
A novel mutation screening system for Ehlers-Danlos Syndrome, vascular type by high-resolution melting curve analysis in combination with small amplicon genotyping using genomic DNA. (21219851)
2011
17
High-functioning autistic disorder with Ehlers-Danlos syndrome. (22003996)
2011
18
Rupture of abdominal aortic aneurysm after spine surgery in the patient with Ehlers-Danlos syndrome -A case report-. (20589181)
2010
19
Ascending aorta impending rupture: successful surgical management in a patient with type IV Ehlers-Danlos syndrome. (19741548)
2010
20
Novel human pathological mutations. Gene symbol: PLOD1. Disease: Ehlers-Danlos syndrome type VIA, kyphoscoliotic type. (19320026)
2009
21
Ehlers-Danlos syndrome in trauma: a case review. (19285191)
2009
22
A novel point mutation in type III collagen gene resulting in exon 24 skipping in a case of vascular type Ehlers-Danlos syndrome. (18779970)
2008
23
Changes in heparan sulfate are associated with delayed wound repair, altered cell migration, adhesion and contractility in the galactosyltransferase I (beta4GalT-7) deficient form of Ehlers-Danlos syndrome. (18158310)
2008
24
Images in clinical medicine. Ehlers-Danlos syndrome. (17855665)
2007
25
Association of Ehlers-Danlos syndrome and solitary rectal ulcer syndrome. (17704597)
2007
26
The vascular Ehlers-Danlos syndrome. (16533486)
2006
27
Incidental myocardial infarction in Ehlers-Danlos syndrome type IV? (15813560)
2005
28
Bilateral arthroscopic tendon interposition arthroplasty of the thumb carpometacarpal joint in a patient with Ehlers-Danlos syndrome: a case report. (16039356)
2005
29
SIR 2005 Annual Meeting Film Panel Case: vascular type Ehlers-Danlos syndrome. (15872319)
2005
30
Ehlers-Danlos syndrome: correlation with headache disorders in a young woman. (16388346)
2005
31
Hemihyperplasia with Ehlers-Danlos syndrome like skin changes. (16155424)
2005
32
Ehlers-Danlos syndrome type VI with cystic malformations of the meninges in a 7-year-old girl. (14872341)
2004
33
A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type. (15211654)
2004
34
Abnormality of dermal collagen fibrils in Ehlers Danlos syndrome. Anticipation of the abnormality for the inherited hypermobile disorders. (15319154)
2004
35
Temporomandibular joint problems and self-registration of mandibular opening capacity among adults with Ehlers-Danlos syndrome. A questionnaire study. (14989754)
2004
36
Type III Ehlers-Danlos syndrome: correlations among clinical signs, ultrasound, and histologic findings in a study of 35 cases. (11422519)
2001
37
Adenoviral gene transfer restores lysyl hydroxylase activity in type VI Ehlers-Danlos syndrome. (11286629)
2001
38
Subclavian artery pseudoaneurysm in type IV Ehlers-Danlos syndrome. (9546243)
1998
39
Ehlers-Danlos syndrome type IV caused by Gly400Glu, Gly595Cys and Gly1003Asp substitutions in collagen III: clinical features, biochemical screening, and molecular confirmation. (8884076)
1996
40
Ehlers Danlos syndrome type VIIB. Incomplete cleavage of abnormal type I procollagen by N-proteinase in vitro results in the formation of copolymers of collagen and partially cleaved pNcollagen that are near circular in cross-section. (1577745)
1992
41
G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV. (1672129)
1991
42
Intractable vasculitis, resorptive osteolysis, and immunity to type I collagen in type VIII Ehlers-Danlos syndrome. (1953824)
1991
43
Enzyme-linked immunoassay and electrophoretic separation of collagens secreted by cultured skin fibroblasts of patients with Ehlers-Danlos and Marfan syndromes. (1840842)
1991
44
Ehlers-Danlos syndrome type IV (EDS IV) as model of a defective biopolymer composite material. (2743768)
1989
45
Ehlers-Danlos syndrome type IV: a subset of patients distinguished by low serum levels of the amino-terminal propeptide of type III procollagen. (2816989)
1989
46
Detection of type III collagen in skin fibroblasts from patients with Ehlers-Danlos syndrome type IV by immunofluorescence. (3277658)
1988
47
Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen. (2875936)
1986
48
Homograft of preserved sclera for post-traumatic scleral staphyloma in Ehlers-Danlos syndrome. (3710179)
1986
49
Crosslinking of collagen in a heritable disorder of connective tissue: Ehlers-Danlos syndrome. (5027136)
1972
50
Ehlers-Danlos syndrome with a hypoplastic kidney, bladder diverticulum, and diaphragmatic hernia. (4964142)
1967

Genetic Variations for Ehlers-Danlos Syndrome

Expression for genes affiliated with Ehlers-Danlos Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Ehlers-Danlos Syndrome

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

Pathways for genes affiliated with Ehlers-Danlos Syndrome

Sources:
54Reactome, 38NCBI BioSystems Database, 12EMD Millipore, 30KEGG, 50PharmGKB, 52QIAGEN
See all sources

Pathways related to Ehlers-Danlos Syndrome according to GeneCards/GeneDecks:

(show all 26)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.4COL1A1, COL1A2
210.4COL1A1, COL1A2
310.4COL1A1, COL1A2
410.4COL1A1, COL1A2
510.4COL1A1, COL1A2
610.3COL3A1, COL1A1, COL1A2
710.3COL1A2, COL1A1, COL3A1
8
Cell adhesion ECM remodeling
Hide members
10.3COL1A2, COL1A1, COL3A1
910.3PLOD3, PLOD1, PLOD2
10
Hide members
10.3COL1A2, COL5A1, COL5A3
1110.3COL5A2, COL5A3, COL5A1
12
Hide members
10.3COL5A1, COL5A3, COL5A2
1310.3COL1A2, COL1A1, COL3A1, CD36
1410.3CD36, COL3A1, COL1A1, COL1A2
15
Hide members
10.2COL3A1, COL5A2, COL5A3, COL5A1
16
Hide members
10.2COL5A1, COL5A3, COL5A2, COL3A1
17
Hide members
10.2COL5A2, COL1A1, COL3A1, TNXB, CD36
18
Hide members
10.2CD36, COL3A1, COL5A2, COL5A3, COL5A1
1910.1COL1A2, COL5A1, COL5A3, COL5A2, COL1A1, COL3A1
2010.1COL1A2, COL5A1, COL5A3, COL5A2, COL1A1, COL3A1
21
Hide members
10.1COL1A2, COL5A1, COL5A3, COL5A2, COL1A1, COL3A1
22
Hide members
10.1COL8A2, COL1A2, COL5A1, COL5A3, COL5A2, COL1A1
23
Hide members
10.1COL8A2, COL1A2, COL5A1, COL5A3, COL5A2, COL1A1
24
Hide members
10.1COL8A2, COL1A2, COL5A1, COL5A3, COL5A2, COL1A1
25
Hide members
10.0COL8A2, COL1A2, COL5A1, COL5A3, COL5A2, COL1A1
26
Hide members
9.8PLOD3, COL8A2, COL1A2, COL5A1, COL5A3, COL5A2

Compounds for genes affiliated with Ehlers-Danlos Syndrome

Sources:
11DrugBank, 45Novoseek, 60Tocris Bioscience, 29IUPHAR, 50PharmGKB, 24HMDB
See all sources

Compounds related to Ehlers-Danlos Syndrome according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
1Collagenase1110.7COL3A1, COL1A1, COL1A2
2nppa4510.7COL3A1, COL1A1, COL1A2
3nppb45 60 2912.7COL1A2, COL1A1, COL3A1
4hydroxylysinonorleucine4510.6PLOD1, PLOD2
5carbodiimide4510.6COL1A1, COL1A2
6vitamin c50 1111.6PLOD3, PLOD1, PLOD2
7hydroxylysine4510.6COL1A1, PLOD1
8l-lysine29 11 2412.6PLOD3, PLOD1, PLOD2
9pyridinoline4510.6CD36, PLOD2, PLOD1, PLOD3
10succinic acid29 11 2412.6PLOD2, PLOD1, PLOD3
11silver nitrate4510.5CD36, DSPP
12calcium carbonate4510.5CD36, DSPP
13procollagen4510.5ADAMTS2, PLOD1, CD36, COL3A1, COL1A1, COL1A2
14aspartate4510.5PLOD1, DSPP, COL3A1, COL1A1, COL1A2
15ascorbic acid45 2411.4DSPP, CD36, PLOD2, PLOD1, PLOD3
16carbon dioxide45 2411.4PLOD3, PLOD1, PLOD2
17tannins4510.4CD36, DSPP
18vitamin d4510.4COL1A2, COL1A1, DSPP, CD36
19xbai4510.4COL1A1, COL1A2
20glycosaminoglycan4510.3COL1A1, B4GALT7, CD36
21tartrate4510.2CD36, DSPP
22polyglycolic acid4510.0CD36, DSPP

GO Terms for genes affiliated with Ehlers-Danlos Syndrome

Sources:
16Gene Ontology
See all sources

Cellular components related to Ehlers-Danlos Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen type VGO:00558810.4COL5A1, COL5A3, COL5A2
2rough endoplasmic reticulum membraneGO:03086710.3PLOD3, PLOD1, PLOD2
3collagen type IGO:00558410.3COL1A2, COL1A1
4proteinaceous extracellular matrixGO:00557810.2ADAMTS2, DSPP, TNXB, COL8A2
5extracellular matrixGO:03101210.2COL8A2, COL1A2, COL5A1, COL5A2, COL1A1, COL3A1
6endoplasmic reticulum lumenGO:00578810.1FKBP14, COL8A2, COL1A2, COL5A1, COL5A3, COL5A2
7extracellular regionGO:0055769.7COL8A2, COL1A2, COL5A1, COL5A3, COL5A2, COL1A1

Biological processes related to Ehlers-Danlos Syndrome according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1collagen biosynthetic processGO:03296410.6COL3A1, COL1A1, COL5A1
2extracellular fibril organizationGO:04320610.5COL5A1, COL3A1, TNXB, B4GALT7
3cellular response to amino acid stimulusGO:07123010.5COL1A2, COL5A2, COL1A1, COL3A1
4eye morphogenesisGO:04859210.5COL5A2, COL5A1
5blood vessel developmentGO:00156810.5COL1A2, COL5A1, COL1A1, COL3A1
6skin developmentGO:04358810.4COL5A1, COL5A3, COL5A2, COL3A1, ADAMTS2
7skin morphogenesisGO:04358910.4COL1A1, COL1A2
8cellular protein modification processGO:00646410.4B4GALT7, PLOD2, PLOD1, PLOD3
9skeletal system developmentGO:00150110.4DSPP, COL3A1, COL1A1, COL5A2, COL1A2
10extracellular matrix disassemblyGO:02261710.3COL8A2, COL1A2, COL5A1, COL5A3, COL5A2, COL1A1
11collagen catabolic processGO:03057410.3COL8A2, COL1A2, COL5A1, COL5A3, COL5A2, COL1A1
12platelet activationGO:03016810.3COL1A2, COL1A1, COL3A1, CD36
13collagen fibril organizationGO:03019910.3PLOD3, TNXB, COL3A1, COL1A1, COL5A2, COL5A3
14axon guidanceGO:00741110.2COL3A1, COL5A2, COL5A3, COL5A1
15cell-matrix adhesionGO:00716010.2TNXB, COL3A1, COL5A3
16extracellular matrix organizationGO:03019810.1ADAMTS2, COL8A2, COL1A2, PLOD3, PLOD1, PLOD2
17protein heterotrimerizationGO:07020810.1COL1A2, COL1A1

Molecular functions related to Ehlers-Danlos Syndrome according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1platelet-derived growth factor bindingGO:04840710.5COL1A2, COL5A1, COL1A1, COL3A1
2procollagen-lysine 5-dioxygenase activityGO:00847510.5PLOD3, PLOD1, PLOD2
3L-ascorbic acid bindingGO:03141810.4PLOD3, PLOD1, PLOD2
4SMAD bindingGO:04633210.4COL1A2, COL5A2, COL3A1
5proteoglycan bindingGO:04339410.3COL5A1, COL5A3
6collagen bindingGO:00551810.3DSPP, TNXB, COL5A3
7integrin bindingGO:00517810.2TNXB, COL3A1, COL5A1
8extracellular matrix structural constituentGO:00520110.2DSPP, COL8A2, COL1A2, COL5A1, COL5A3, COL5A2
9metal ion bindingGO:04687210.1ZNF469, B4GALT7, COL3A1, COL1A1, COL5A2, COL5A1
10heparin bindingGO:00820110.0COL5A1, COL5A3, TNXB

Products for genes affiliated with Ehlers-Danlos Syndrome

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Sources for Ehlers-Danlos Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet