HEDS
MCID: HYP706
MIFTS: 42

Hypermobile Ehlers-Danlos Syndrome (HEDS)

Categories: Rare diseases

Aliases & Classifications for Hypermobile Ehlers-Danlos Syndrome

MalaCards integrated aliases for Hypermobile Ehlers-Danlos Syndrome:

Name: Hypermobile Ehlers-Danlos Syndrome 24 53
Joint Hypermobility 29 6
Heds 24 53
Ehlers-Danlos Syndrome, Hypermobility Type 53
Ehlers-Danlos Syndrome Hypermobility Type 24
Benign Joint Hypermobility Syndrome 24
Ehlers-Danlos Syndrome Type Iii 24
Joint Hypermobility Syndrome 24
Eds Hypermobility Type 24
Hypermobile Eds 53
Eds Type Iii 24

Characteristics:

GeneReviews:

24
Penetrance Penetrance is believed to be 100%, although expressivity is extremely variable, and careful examination may be required to demonstrate typical features, especially in adult men who have never experienced a major joint complication or significant pain...

Classifications:



Summaries for Hypermobile Ehlers-Danlos Syndrome

NIH Rare Diseases : 53 Hypermobile Ehlers-Danlos syndrome is an inheritedconnective tissue disorder that is caused by defects in a protein called collagen. It is generally considered the least severe form of Ehlers-Danlos syndrome (EDS) although significant complications can occur. Common symptoms include joint hypermobility, affecting both large (elbows, knees) and small (fingers, toes) joints; soft, smooth skin that may be slightly elastic (stretchy) and bruises easily; and chronic musculoskeletal (muscles and bones) pain. Although hypermobile EDS is thought to be a genetic condition, the exact underlying cause is unknown in most cases. A small percentage of people with this condition have a change (mutation) in the TNXB gene. Most cases of hypermobile EDS, are inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.

MalaCards based summary : Hypermobile Ehlers-Danlos Syndrome, also known as joint hypermobility, is related to ehlers-danlos syndrome and orthostatic intolerance. An important gene associated with Hypermobile Ehlers-Danlos Syndrome is PLOD1 (Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 1), and among its related pathways/superpathways are Degradation of the extracellular matrix and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. Affiliated tissues include skin, bone and testes, and related phenotypes are Increased mitotic index and cardiovascular system

GeneReviews: NBK1279

Related Diseases for Hypermobile Ehlers-Danlos Syndrome

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

(show top 50) (show all 132)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome 31.0 COL1A1 FKBP14 PLOD1
2 orthostatic intolerance 30.2 FBN1 PLOD1
3 scoliosis 29.9 COL1A1 FBN1 PLOD1
4 connective tissue disease 29.5 COL1A1 FBN1 PLOD1
5 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 12.1
6 ectodermal dysplasia, hypohidrotic, with immune deficiency 11.8
7 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant 11.7
8 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive 11.7
9 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 11.3
10 cutis laxa, autosomal recessive, type iiia 11.3
11 ehlers-danlos syndrome, classic-like 11.2
12 ehlers-danlos syndrome, dermatosparaxis type 11.2
13 ehlers-danlos syndrome, musculocontractural type, 1 11.2
14 ehlers-danlos syndrome, kyphoscoliotic type, 2 11.2
15 ectodermal dysplasia 1, hypohidrotic, x-linked 11.0
16 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type 11.0
17 ehlers-danlos syndrome, classic type, 1 11.0
18 ehlers-danlos syndrome, classic type, 2 11.0
19 ehlers-danlos syndrome, periodontal type, 1 11.0
20 joint laxity, familial 11.0
21 shprintzen-goldberg craniosynostosis syndrome 11.0
22 ehlers-danlos syndrome with platelet dysfunction from fibronectin abnormality 11.0
23 ehlers-danlos syndrome, cardiac valvular type 11.0
24 oculopalatocerebral syndrome 11.0
25 three m syndrome 1 11.0
26 meester-loeys syndrome 11.0
27 lowe oculocerebrorenal syndrome 11.0
28 mass syndrome 11.0
29 neuropathy, hereditary, with or without age-related macular degeneration 11.0
30 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 11.0
31 arthrochalasia ehlers-danlos syndrome 11.0
32 kyphoscoliotic ehlers-danlos syndrome 11.0
33 typical congenital nemaline myopathy 11.0
34 clouston syndrome 11.0
35 ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency, autosomal dominant 11.0
36 hypohidrotic ectodermal dysplasia autosomal recessive 11.0
37 hypohidrotic ectodermal dysplasia with immunodeficiency 11.0
38 pain - chronic 10.6
39 ectodermal dysplasia 10.5
40 ehlers-danlos syndrome, hypermobility type 10.3
41 marfan syndrome 10.3
42 hypermobility syndrome 10.3
43 gingivitis 10.3
44 osteoarthritis 10.3
45 anxiety 10.3
46 erythermalgia, primary 10.3
47 down syndrome 10.3
48 celiac disease 1 10.3
49 postural orthostatic tachycardia syndrome 10.3
50 obsessive-compulsive personality disorder 10.3

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



Diseases related to Hypermobile Ehlers-Danlos Syndrome

Symptoms & Phenotypes for Hypermobile Ehlers-Danlos Syndrome

GenomeRNAi Phenotypes related to Hypermobile Ehlers-Danlos Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased mitotic index GR00110-A-0 8.62 ILK RET

MGI Mouse Phenotypes related to Hypermobile Ehlers-Danlos Syndrome:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.99 COL1A1 FBN1 ILK PLOD1 RET SNAI1
2 mortality/aging MP:0010768 9.88 COL1A1 FBN1 ILK PLOD1 RET SNAI1
3 embryo MP:0005380 9.85 COL1A1 FBN1 ILK RET SNAI1
4 craniofacial MP:0005382 9.8 COL1A1 FBN1 ILK SNAI1
5 digestive/alimentary MP:0005381 9.78 COL1A1 ILK RET SNAI1
6 muscle MP:0005369 9.77 COL1A1 FBN1 ILK PLOD1 RET
7 limbs/digits/tail MP:0005371 9.73 COL1A1 FBN1 PLOD1 RET
8 no phenotypic analysis MP:0003012 9.72 COL1A1 FBN1 ILK PLOD1 RET
9 renal/urinary system MP:0005367 9.46 COL1A1 FBN1 ILK RET
10 pigmentation MP:0001186 9.43 COL1A1 FBN1 ILK
11 respiratory system MP:0005388 9.26 COL1A1 FBN1 ILK RET
12 skeleton MP:0005390 9.02 COL1A1 FBN1 ILK PLOD1 SNAI1

Drugs & Therapeutics for Hypermobile Ehlers-Danlos Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Head Circumference Growth in Children With Ehlers-Danlos Syndrome Who Develop Dysautonomia Later in Life Completed NCT01367977
2 Prevalence of FODMAP Intolerance and JHS in FGID and Association With Microbiome, Dyssynergic Defecation and Dietary Intervention Recruiting NCT03460613 Not Applicable
3 Standing Cognition and Co-morbidities of POTS Evaluation Active, not recruiting NCT03602482 Not Applicable
4 Gait Retraining in Patients With Joint Hypermobility Syndrome/Hypermobile Ehlers Danlos Syndrome Not yet recruiting NCT03575182 Not Applicable

Search NIH Clinical Center for Hypermobile Ehlers-Danlos Syndrome

Genetic Tests for Hypermobile Ehlers-Danlos Syndrome

Genetic tests related to Hypermobile Ehlers-Danlos Syndrome:

# Genetic test Affiliating Genes
1 Joint Hypermobility 29

Anatomical Context for Hypermobile Ehlers-Danlos Syndrome

MalaCards organs/tissues related to Hypermobile Ehlers-Danlos Syndrome:

41
Skin, Bone, Testes, Heart, T Cells, Brain

Publications for Hypermobile Ehlers-Danlos Syndrome

Articles related to Hypermobile Ehlers-Danlos Syndrome:

(show top 50) (show all 258)
# Title Authors Year
1
Hypermobile Ehlers-Danlos syndrome and rehabilitation: taking stock of evidence based medicine: a systematic review of the literature. ( 29950777 )
2018
2
Dermal fibroblast-to-myofibroblast transition sustained by I+vA93 integrin-ILK-Snail1/Slug signaling is a common feature for hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders. ( 29309923 )
2018
3
Low- and high-anxious hypermobile Ehlers-Danlos syndrome patients: comparison of psychosocial and health variables. ( 29497845 )
2018
4
A Cohort Study Comparing Women with Autism Spectrum Disorder with and without Generalized Joint Hypermobility. ( 29562607 )
2018
5
Higher prevalence of joint hypermobility in constipation predominant irritable bowel syndrome. ( 29687534 )
2018
6
Exploring relationships between joint hypermobility and neurodevelopment in children (4-13 years) with hereditary connective tissue disorders and developmental coordination disorder. ( 30070022 )
2018
7
Physical and mechanical therapies for lower limb symptoms in children with Hypermobility Spectrum Disorder and Hypermobile Ehlers-Danlos Syndrome: a systematic review. ( 30455744 )
2018
8
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 )
2018
9
Mitral valve prolapse and aortic root dilation in adults with hypermobile Ehlers-Danlos syndrome and related disorders. ( 30063091 )
2018
10
Hypermobile Ehlers Danlos Syndrome. ( 30063214 )
2018
11
Application of immunotherapy for neurological manifestations in hypermobile Ehlers-Danlos syndrome. ( 30147750 )
2018
12
Gastrointestinal Symptoms in Marfan Syndrome and Hypermobile Ehlers-Danlos Syndrome. ( 30151001 )
2018
13
Hypermobile Ehlers-Danlos syndrome and pregnancy. ( 30214474 )
2018
14
Ehlers-Danlos Syndrome: Not Just Joint Hypermobility. ( 30228818 )
2018
15
Prevalence and frequency of self-perceived systemic features in people with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type. ( 30232714 )
2018
16
Comment on: The multisystemic nature and natural history of joint hypermobility syndrome and Ehlers-Danlos syndrome in children. ( 30239925 )
2018
17
Comment on: The multisystemic nature and natural history of joint hypermobility syndrome and Ehlers-Danlos syndrome in children: reply. ( 30239979 )
2018
18
Interdisciplinary Pain Management Improves Pain and Function in Pediatric Patients with Chronic Pain Associated with Joint Hypermobility Syndrome. ( 30010052 )
2018
19
Lack of joint hypermobility increases the risk of surgery in adolescent idiopathic scoliosis. ( 28777161 )
2018
20
Relationship of Joint Hypermobility with Ankle and Foot Radiographic Osteoarthritis and Symptoms in a Community-Based Cohort. ( 29953742 )
2018
21
Is femoral trochlear dysplasia related to global joint hypermobility? ( 30396703 )
2018
22
Passive anterior tibial translation in women with and without joint hypermobility: an exploratory study. ( 27456472 )
2018
23
Frequency of joint hypermobility in Turkish patients with knee osteoarthritis: a cross sectional multicenter study. ( 27463535 )
2018
24
Joint hypermobility is also associated with anxiety disorders in the elderly population. ( 28543732 )
2018
25
Functional Gastrointestinal Disorders and Joint Hypermobility: A School-based Study. ( 28837511 )
2018
26
Development and validation of self-reported line drawings of the modified Beighton score for the assessment of generalised joint hypermobility. ( 29343224 )
2018
27
Evaluation of the Efficacy of Different Concentrations of Dextrose Prolotherapy in Temporomandibular Joint Hypermobility Treatment. ( 29533255 )
2018
28
A possible connection between childhood pain, joint hypermobility and Neurodevelopmental disorders. ( 29637603 )
2018
29
Association between general joint hypermobility and knee, hip, and lumbar spine osteoarthritis by race: a cross-sectional study. ( 29669593 )
2018
30
Sensorimotor control and neuromuscular activity of the shoulder in adolescent competitive swimmers with generalized joint hypermobility. ( 29775909 )
2018
31
No Effect of Generalized Joint Hypermobility on Injury Risk in Elite Female Soccer Players: Letter to the Editor. ( 29847172 )
2018
32
No Effect of Generalized Joint Hypermobility on Injury Risk in Elite Female Soccer Players: Response. ( 29847173 )
2018
33
Joint Hypermobility Classes in 9-Year-Old Children from the General Population and Anxiety Symptoms. ( 29847358 )
2018
34
A novel and simple classification for ligamentum teres pathology based on joint hypermobility. ( 29876126 )
2018
35
Spectrum of Gastrointestinal Manifestations in Joint Hypermobility Syndromes. ( 29891041 )
2018
36
Clinical Relevance of Joint Hypermobility and Its Impact on Musculoskeletal Pain and Bone Mass. ( 29915965 )
2018
37
Human jaw joint hypermobility: Diagnosis and biomechanical modelling. ( 29972704 )
2018
38
Pharmacological resources, diagnostic approach and coordination of care in joint hypermobility-related disorders. ( 29979900 )
2018
39
Association of Autonomic Nervous System Abnormalities on Head-Up Tilt Table Test with Joint Hypermobility. ( 29986340 )
2018
40
The efficacy of dextrose prolotherapy over placebo for temporomandibular joint hypermobility: A systematic review and meta-analysis. ( 30024045 )
2018
41
Two subtypes of symptomatic joint hypermobility: a descriptive study using latent class analysis. ( 30120142 )
2018
42
RELATIVE JOINT CONTRIBUTION TO JOINT HYPERMOBILITY IN RUGBY PLAYERS, NETBALLERS AND DANCERS: THE NEED FOR CAREFUL CONSIDERATION OF LUMBAR FLEXION. ( 30140561 )
2018
43
Association between Pain Sensitivity, Central Sensitization, and Functional Disability in Adolescents With Joint Hypermobility. ( 30219297 )
2018
44
Axial Rotation Test for Trapeziometacarpal Joint Hypermobility in the Normal Population. ( 30282539 )
2018
45
Joint Hypermobility as a Predictor of Mechanical Loading in Dancers. ( 30426828 )
2018
46
Postural tachycardia in hypermobile Ehlers-Danlos syndrome: A distinct subtype? ( 28986003 )
2017
47
Natural history of aortic root dilation through young adulthood in a hypermobile Ehlers-Danlos syndrome cohort. ( 28436618 )
2017
48
The evidence-based rationale for physical therapy treatment of children, adolescents, and adults diagnosed with joint hypermobility syndrome/hypermobile Ehlers Danlos syndrome. ( 28306230 )
2017
49
Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history. ( 28145611 )
2017
50
Joint Hypermobility Syndrome: Recognizing a Commonly Overlooked Cause of Chronic Pain. ( 28286166 )
2017

Variations for Hypermobile Ehlers-Danlos Syndrome

ClinVar genetic disease variations for Hypermobile Ehlers-Danlos Syndrome:

6 (show all 37)
# Gene Variation Type Significance SNP ID Assembly Location
1 RET NM_020975.4(RET): c.2753T> C (p.Met918Thr) single nucleotide variant Pathogenic rs74799832 GRCh37 Chromosome 10, 43617416: 43617416
2 RET NM_020975.4(RET): c.2753T> C (p.Met918Thr) single nucleotide variant Pathogenic rs74799832 GRCh38 Chromosome 10, 43121968: 43121968
3 COL1A1 NM_000088.3(COL1A1): c.934C> T (p.Arg312Cys) single nucleotide variant Pathogenic/Likely pathogenic rs72645347 GRCh37 Chromosome 17, 48273698: 48273698
4 COL1A1 NM_000088.3(COL1A1): c.934C> T (p.Arg312Cys) single nucleotide variant Pathogenic/Likely pathogenic rs72645347 GRCh38 Chromosome 17, 50196337: 50196337
5 FBN1 NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr) single nucleotide variant Pathogenic/Likely pathogenic rs727503054 GRCh37 Chromosome 15, 48712949: 48712949
6 FBN1 NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr) single nucleotide variant Pathogenic/Likely pathogenic rs727503054 GRCh38 Chromosome 15, 48420752: 48420752
7 FBN1 NM_000138.4(FBN1): c.139G> A (p.Gly47Ser) single nucleotide variant Uncertain significance rs762400500 GRCh38 Chromosome 15, 48644631: 48644631
8 FBN1 NM_000138.4(FBN1): c.139G> A (p.Gly47Ser) single nucleotide variant Uncertain significance rs762400500 GRCh37 Chromosome 15, 48936828: 48936828
9 FKBP14 NM_017946.3(FKBP14): c.362dupC (p.Glu122Argfs) duplication Pathogenic/Likely pathogenic rs542489955 GRCh37 Chromosome 7, 30058727: 30058727
10 FKBP14 NM_017946.3(FKBP14): c.362dupC (p.Glu122Argfs) duplication Pathogenic/Likely pathogenic rs542489955 GRCh38 Chromosome 7, 30019111: 30019111
11 ZNF469 NM_001127464.2(ZNF469): c.470G> A (p.Gly157Glu) single nucleotide variant Uncertain significance rs781096189 GRCh38 Chromosome 16, 88427940: 88427940
12 ZNF469 NM_001127464.2(ZNF469): c.470G> A (p.Gly157Glu) single nucleotide variant Uncertain significance rs781096189 GRCh37 Chromosome 16, 88494348: 88494348
13 PLOD1 NM_000302.3(PLOD1): c.1562G> A (p.Trp521Ter) single nucleotide variant Pathogenic rs1057518879 GRCh37 Chromosome 1, 12025628: 12025628
14 PLOD1 NM_000302.3(PLOD1): c.1562G> A (p.Trp521Ter) single nucleotide variant Pathogenic rs1057518879 GRCh38 Chromosome 1, 11965571: 11965571
15 COL5A1 NM_000093.4(COL5A1): c.2903delC (p.Pro968Leufs) deletion Likely pathogenic rs1057518871 GRCh37 Chromosome 9, 137690258: 137690258
16 COL5A1 NM_000093.4(COL5A1): c.2903delC (p.Pro968Leufs) deletion Likely pathogenic rs1057518871 GRCh38 Chromosome 9, 134798412: 134798412
17 GRIN2B NM_000834.4(GRIN2B): c.2002G> A (p.Asp668Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs876661151 GRCh38 Chromosome 12, 13608611: 13608611
18 GRIN2B NM_000834.4(GRIN2B): c.2002G> A (p.Asp668Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs876661151 GRCh37 Chromosome 12, 13761545: 13761545
19 FBN1 NM_000138.4(FBN1): c.840_843delTGAA (p.Asn280Lysfs) deletion Pathogenic rs1057518909 GRCh37 Chromosome 15, 48826296: 48826299
20 FBN1 NM_000138.4(FBN1): c.840_843delTGAA (p.Asn280Lysfs) deletion Pathogenic rs1057518909 GRCh38 Chromosome 15, 48534099: 48534102
21 NSDHL NM_001129765.1(NSDHL): c.1054C> G (p.Leu352Val) single nucleotide variant Uncertain significance rs142351862 GRCh37 Chromosome X, 152037592: 152037592
22 NSDHL NM_001129765.1(NSDHL): c.1054C> G (p.Leu352Val) single nucleotide variant Uncertain significance rs142351862 GRCh38 Chromosome X, 152869048: 152869048
23 COL5A2 NM_000393.4(COL5A2): c.754G> T (p.Gly252Cys) single nucleotide variant Likely pathogenic GRCh37 Chromosome 2, 189949930: 189949930
24 COL5A2 NM_000393.4(COL5A2): c.754G> T (p.Gly252Cys) single nucleotide variant Likely pathogenic GRCh38 Chromosome 2, 189085204: 189085204
25 COL5A1 NM_000093.4(COL5A1): c.5150_5158delACGCCGAGG (p.Asp1717_Glu1719del) deletion Likely pathogenic GRCh37 Chromosome 9, 137726830: 137726838
26 COL5A1 NM_000093.4(COL5A1): c.5150_5158delACGCCGAGG (p.Asp1717_Glu1719del) deletion Likely pathogenic GRCh38 Chromosome 9, 134834984: 134834992
27 COL4A2 NM_001846.3(COL4A2): c.551G> A (p.Gly184Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 13, 110430402: 110430402
28 COL4A2 NM_001846.3(COL4A2): c.551G> A (p.Gly184Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 13, 111082749: 111082749
29 ZNF469 NM_001127464.2(ZNF469): c.2569A> G (p.Asn857Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 88496447: 88496447
30 ZNF469 NM_001127464.2(ZNF469): c.2569A> G (p.Asn857Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 88430039: 88430039
31 ZNF469 NM_001127464.2(ZNF469): c.9448G> A (p.Gly3150Ser) single nucleotide variant Uncertain significance rs887755283 GRCh38 Chromosome 16, 88437002: 88437002
32 ZNF469 NM_001127464.2(ZNF469): c.9448G> A (p.Gly3150Ser) single nucleotide variant Uncertain significance rs887755283 GRCh37 Chromosome 16, 88503410: 88503410
33 COL1A1 NM_000088.3(COL1A1): c.3168delC (p.Val1057Leufs) deletion Pathogenic GRCh38 Chromosome 17, 50188569: 50188569
34 COL1A1 NM_000088.3(COL1A1): c.3168delC (p.Val1057Leufs) deletion Pathogenic GRCh37 Chromosome 17, 48265930: 48265930
35 PLOD1 GRCh37/hg19 1p36.22(chr1: 12019879-12028775) copy number gain Pathogenic GRCh37 Chromosome 1, 12019879: 12028775
36 PLOD1 GRCh37/hg19 1p36.22(chr1: 12019879-12028775) copy number gain Pathogenic GRCh37 Chromosome 1, 12019879: 12028775
37 PLOD1 GRCh37/hg19 1p36.22(chr1: 12019879-12028775) copy number gain Pathogenic GRCh37 Chromosome 1, 12019879: 12028775

Expression for Hypermobile Ehlers-Danlos Syndrome

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

Pathways for Hypermobile Ehlers-Danlos Syndrome

GO Terms for Hypermobile Ehlers-Danlos Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 8.8 COL1A1 FBN1 FKBP14

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

# Name GO ID Score Top Affiliating Genes
1 osteoblast differentiation GO:0001649 9.43 COL1A1 SNAI1
2 positive regulation of canonical Wnt signaling pathway GO:0090263 9.4 COL1A1 ILK
3 cellular response to retinoic acid GO:0071300 9.37 COL1A1 RET
4 cellular response to transforming growth factor beta stimulus GO:0071560 9.32 COL1A1 FBN1
5 collagen fibril organization GO:0030199 9.26 COL1A1 PLOD1
6 positive regulation of transcription, DNA-templated GO:0045893 9.26 COL1A1 ILK RET SNAI1
7 positive regulation of epithelial to mesenchymal transition GO:0010718 9.16 COL1A1 SNAI1
8 positive regulation of cell migration GO:0030335 8.92 COL1A1 ILK RET SNAI1

Sources for Hypermobile Ehlers-Danlos Syndrome

3 CDC
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9 Cosmic
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11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
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32 HPO
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34 ICD10 via Orphanet
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36 IUPHAR
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49 NCI
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69 SNOMED-CT via HPO
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