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MCID: EXS001
MIFTS: 46

Exostosis

Categories: Bone diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Exostosis

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MalaCards integrated aliases for Exostosis:

Name: Exostosis 12 15
Osteophyte 12 71 32
Exostoses 43 71
Cartilaginous Exostosis 71
Swimmer's Exostosis 12
Exostosis of Orbit 71
Orbital Exostosis 12
External Exotoses 71
Bony Outgrowth 12
Osteophytes 15
Bone Spur 12

Classifications:

MalaCards categories:
Anatomical: Bone diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:203
ICD9CM 34 726.91
MeSH 43 D005096
NCIt 49 C3029
SNOMED-CT 67 416189003
ICD10 32 M25.7 M27.8
UMLS 71 C0015302 C0029423 C0155275 more
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Summaries for Exostosis

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Disease Ontology : 12 A hyperostosis that involves formation of new bone on the surface of preexisting bone.

MalaCards based summary : Exostosis, also known as osteophyte, is related to hereditary multiple osteochondromas and heel spur. An important gene associated with Exostosis is EXT1 (Exostosin Glycosyltransferase 1), and among its related pathways/superpathways are Phospholipase-C Pathway and Degradation of the extracellular matrix. The drugs Etoricoxib and Tramadol have been mentioned in the context of this disorder. Affiliated tissues include bone, spinal cord and brain.

Wikipedia : 74 An exostosis, also known as bone spur, is the formation of new bone on the surface of a bone. Exostoses... more...

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Related Diseases for Exostosis

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Diseases related to Exostosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 388)
# Related Disease Score Top Affiliating Genes
1 hereditary multiple osteochondromas 33.3 POMGNT2 EXT2 EXT1
2 heel spur 33.1 PES1 HECTD4
3 enchondromatosis, multiple, ollier type 32.4 IHH EXT2 EXT1 ACAN
4 hereditary multiple exostoses 32.2 POMGNT2 MMP12 IHH HSPG2 EXTL3 EXTL2
5 bursitis 30.9 PES1 HECTD4
6 tarsal tunnel syndrome 30.6 PES1 HECTD4
7 peroneal nerve paralysis 30.6 PES1 HECTD4
8 plantar fasciitis 30.6 PES1 HECTD4
9 degenerative disc disease 30.6 GDF5 CALCA ACAN
10 bone resorption disease 30.6 HECTD4 CALCA BGLAP
11 ankylosing spondylitis 3 30.5 EXT2 EXT1
12 myofascial pain syndrome 30.4 HECTD4 CALCA
13 metachondromatosis 30.3 IHH EXT2 EXT1
14 multiple enchondromatosis, maffucci type 30.3 IHH EXT2 EXT1
15 tenosynovitis 30.2 PES1 HECTD4
16 chondroblastic osteosarcoma 30.2 BGLAP ACAN
17 spondylolisthesis 30.2 HECTD4 GDF5 ACAN
18 osteochondrosis 30.1 PES1 HECTD4 ACAN
19 bone disease 29.4 GDF5 EXT2 EXT1 CALCA BGLAP ACAN
20 odontochondrodysplasia 28.4 PES1 IHH HSPG2 GDF5 FN1 CALCA
21 exostosis, dupuytren subungual 12.4
22 multiple exostoses with spastic tetraparesis 12.4
23 exostoses with anetodermia and brachydactyly, type e 12.3
24 polyposis, intestinal, with multiple exostoses 12.3
25 exostoses of heel 12.1
26 craniosynostosis exostoses nevus epibulbar dermoid 12.1
27 potocki-shaffer syndrome 11.8
28 trichorhinophalangeal syndrome, type ii 11.8
29 exostoses, multiple, type i 11.7
30 osteochondroma 11.7
31 hyperostosis 11.6
32 seizures, scoliosis, and macrocephaly/microcephaly syndrome 11.5
33 torus palatinus and torus mandibularis 11.5
34 intervertebral disc disease 11.5
35 bicipital tenosynovitis 11.2
36 ear exostoses 11.2
37 occipital horn syndrome 11.2
38 dysplasia epiphysealis hemimelica 10.6 EXT2 EXT1
39 spondylosis 10.6
40 chondrosarcoma 10.5
41 juxtacortical chondroma 10.5 EXT2 EXT1
42 spondylosis, cervical 10.5
43 exostoses, multiple, type ii 10.5
44 neurogenic arthropathy 10.4 HECTD4 CALCA
45 multiple mucosal neuroma 10.4 PES1 CALCA
46 radiculopathy 10.4
47 achilles bursitis 10.4 PES1 HECTD4
48 aneurysm 10.4
49 de quervain disease 10.4 PES1 HECTD4
50 ehlers-danlos syndrome progeroid type 10.4 EXTL2 EXTL1

Comorbidity relations with Exostosis via Phenotypic Disease Network (PDN):


Hypertension, Essential

Graphical network of the top 20 diseases related to Exostosis:



Diseases related to Exostosis
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Symptoms & Phenotypes for Exostosis

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Drugs & Therapeutics for Exostosis

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Drugs for Exostosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 77)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Etoricoxib Approved, Investigational Phase 4 202409-33-4 123619
2
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
3 Narcotics Phase 4
4 Analgesics Phase 4
5 Cyclooxygenase 2 Inhibitors Phase 4
6 Analgesics, Opioid Phase 4
7 Anti-Inflammatory Agents Phase 4
8 Analgesics, Non-Narcotic Phase 4
9 Cyclooxygenase Inhibitors Phase 4
10 Antirheumatic Agents Phase 4
11 Anti-Inflammatory Agents, Non-Steroidal Phase 4
12 Ginger Approved Phase 2, Phase 3
13 Tangerine Approved Phase 2, Phase 3
14 Viscosupplements Phase 3
15 Hylan Phase 3
16 Protective Agents Phase 3
17 Angelica Phase 2, Phase 3
18 Dong Quai Phase 2, Phase 3
19
Guaifenesin Approved, Investigational, Vet_approved Phase 2 93-14-1 3516
20
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 444795 5538
21 Chlorpheniramine, phenylpropanolamine drug combination Phase 2
22 Tea Phase 2
23 Pycnogenols Phase 2
24 Calcium, Dietary Phase 2
25
Calcium Nutraceutical Phase 2 7440-70-2 271
26
Parathyroid hormone Approved, Investigational Phase 1 9002-64-6
27
Teriparatide Approved, Investigational Phase 1 52232-67-4 16133850
28
Vitamin D Approved, Nutraceutical, Vet_approved Phase 1 1406-16-2
29 Micronutrients Phase 1
30 Trace Elements Phase 1
31 Vitamins Phase 1
32 Nutrients Phase 1
33 Calciferol Phase 1
34 Hormones Phase 1
35
Glucosamine Approved, Investigational 3416-24-8 439213
36
Magnesium hydroxide Approved, Investigational 1309-42-8
37
Prednisolone phosphate Approved, Vet_approved 302-25-0
38
Methylprednisolone Approved, Vet_approved 83-43-2 6741
39
Lidocaine Approved, Vet_approved 137-58-6 3676
40
Methylprednisolone hemisuccinate Approved 2921-57-5
41
Ropivacaine Approved 84057-95-4 71273 175805
42
Prednisolone Approved, Vet_approved 50-24-8 5755
43 Prednisolone acetate Approved, Vet_approved 52-21-1
44
Certolizumab pegol Approved 428863-50-7
45
Adalimumab Approved 331731-18-1 16219006
46
Infliximab Approved 170277-31-3
47
Etanercept Approved, Investigational 185243-69-0
48
Pseudoephedrine Approved 90-82-4 7028
49
Ephedrine Approved 299-42-3 9294
50
Oxymetazoline Approved, Investigational 1491-59-4 4636

Interventional clinical trials:

(show top 50) (show all 91)
# Name Status NCT ID Phase Drugs
1 Insertional Achilles Tendinopathy: A Randomized Trial to Evaluate the Effectiveness of Transferring the Flexor Hallucis Longus Tendon Unknown status NCT01341509 Phase 4
2 Chronic Insertional Achilles Tendonitis Treated With or Without Flexor Hallucis Longus Tendon Transfer: A Prospective, Randomized, Controlled Trial Completed NCT00950053 Phase 4
3 The Effect of Anti-inflammatory Analgesics on Bone Repair, Pain and Gastro-intestinal Side Effects After Hallux Valgus Surgery; a Prospective Randomised Double-blind Placebo Controlled Study. Completed NCT00733421 Phase 4 etoricoxib;tramadol
4 Prevention of Metacarpophalangeal Joints Structure Damage in Patients With Psoriatic Arthritis Using Secukinumab Not yet recruiting NCT03623867 Phase 4 Secukinumab;Placebo
5 A Clinical Study on the Treatment of Degenerative Lumbar Spine Stenosis With a Percutaneous Interspinous Implant in Comparison With the Best Non-operative Treatment of Lumbar Spine Stenosis Terminated NCT01057641 Phase 4
6 A Randomized Clinical Trial Comparing the Effectiveness of Subacromial Decompression (Acromioplasty) Versus Subacromial Bursectomy (no Acromioplasty) in the Arthroscopic Treatment of Patients With Rotator Cuff Tendinosis Unknown status NCT00196573 Phase 3
7 A Prospective, Randomized, Multi-Center, Post-Approval Clinical Trial Evaluating the Long-Term (7 Year) Safety and Effectiveness of the PCM® Cervical Disc Completed NCT01905930 Phase 3
8 A Prospective, Randomized, Controlled Clinical Investigation Comparing PCM® Cervical Disc Arthroplasty to Anterior Cervical Discectomy and Fusion: 2 Year Results From the US IDE Clinical Trial Completed NCT00578812 Phase 3
9 The CSM Trial: A Multicenter Study Comparing Ventral to Dorsal Surgery for Cervical Spondylotic Myelopathy Completed NCT00506558 Phase 3
10 A Multicenter, Randomized, Double-blind, Placebo- and Active-Controlled Phase III Study on the Safety and Efficacy of a Single Intra-articular Administration of JTA-004 in Symptomatic Knee Osteoarthritis Recruiting NCT04333160 Phase 3 JTA-004
11 A Phase 3, Multicenter, 12-Week, Double-Blind and 40-Week Open Label Study to Evaluate the Efficacy and Safety of X0002 Spray in Relief of the Signs and Symptoms of Subjects With Osteoarthritis of the Knee Not yet recruiting NCT03081806 Phase 3 X0002
12 The Efficacy of TGF for Treating Osteoarthritis of the Knee: A Randomized Double-blind Controlled Trial Not yet recruiting NCT03562429 Phase 2, Phase 3 TGF;TGFP
13 Autologous Stem Cells in Achilles Tendinopathy Unknown status NCT02064062 Phase 2
14 Evaluation of Two Types of PRP in Knee Osteoarthritis Unknown status NCT02923310 Phase 1, Phase 2 Hialuronic Acid
15 ASIA Motor, Functional and Health Related Quality of Life Outcome in Traumatic Central Cord Syndrome, a Prospective Randomized Study Unknown status NCT00475748 Phase 2
16 Traditional Chinese Medicine Formula Liu-Wei-Die-Huang-Wan in the Treatment of Osteoarthritis. An Eight-Weeks Double Blind Randomized Placebo-Controlled Clinical Trial. Completed NCT04108832 Phase 2 TCM OA2;PLACEBO
17 Randomised, Placebo Controlled Study to Determine if Aquamin (as AquaCal and AquaPT) Modulates Inflammatory Biomarkers in the Blood of Osteoarthritis and Healthy Subjects Completed NCT01321281 Phase 2
18 A Phase 2, Randomized, Double-Blind, Placebo-Controlled Efficacy and Safety Study of Palovarotene in Subjects With Multiple Osteochondromas Active, not recruiting NCT03442985 Phase 2 Palovarotene 2.5 mg;Palovarotene 5.0 mg
19 A Phase 1, Double-Blind, Randomized, Single Dose Escalation Safety Study of Intra-articular Osteogenic Protein-1 OP-1 in Subjects With Osteoarthritis of the Knee Completed NCT00456157 Phase 1 Intra-articular Injection of OP-1 to affected knee
20 Impact of Parathyroid Hormone (1-34) on Osseous Regeneration in the Oral Cavity Completed NCT00277706 Phase 1 FORTEO;Placebo
21 A Single Dose Clinical Trial to Study the Safety of ART-I02 in Patients With Arthritis Active, not recruiting NCT02727764 Phase 1
22 Role of Doppler Ultrasound in Evaluation of Superficial Soft Tissue Masses Unknown status NCT03171857
23 Knee Arthroplasty Registry a. Function and Survival Stratified by BMI b. Return of Quadriceps Strength After Primary TKA Unknown status NCT01132365
24 Distal Phalangeal Bone Involvement Observed by High Resolution Peripheral Quantitative Computed Tomography (HR-pQCT) in Patients With Nail Psoriasis Unknown status NCT02813720
25 Clinical Outcome and Tunnel Widening After Hamstring Anterior Cruciate Ligament Reconstruction: A Prospective Randomized Computed Tomography - Based Trial Comparing Aperture With Cortical Fixation Unknown status NCT01755819
26 The Histological Effect of Various Microfracture Techniques on Human Chondral & Sub-chondral Tissue - an Ex-Vivo Study Unknown status NCT03016299
27 A Prospective Study Using Actifuse SHAPE Versus Autograft With Demineralized Bone Matrix to Achieve Bone Fusion in Anterior Cervical Corpectomy (ACC) Unknown status NCT02005081
28 Evaluating the Efficacy of Micro-fragmented Adipose Tissue and Intra-articular Corticosteroid Injections for Symptomatic Knee Osteoarthritis: a Randomized, Placebo Controlled Study. Unknown status NCT03379168 Corticosteroid injection;Saline
29 Investigating the Potential for Marigot's Nutrition Supplement to Improve Symptoms and Physical Function in Those With Mild to Moderate Knee Osteoarthritis (KOA) Versus the Current Market Leader (Glucosamine Sulphate) Unknown status NCT03106584
30 The Health-Related Quality of Life in Patients With Hereditary Multiple Exostoses Completed NCT00474448
31 Subacromial Injection of High Volume Versus Conventional Steroid Injection Guided by Ultrasound in Shoulder Pain. Randomized Controlled Trial Completed NCT03303001
32 Virtual Reality Distraction From Procedural Pain in Children Completed NCT03998995
33 NGS Strategy Effectiveness in Molecular Diagnosis Completed NCT03557567
34 Patellar Resurfacing in Total Knee Arthroplasty. A Prospective, Randomised and Double Blind Study. Completed NCT00553982
35 Comparisons of TESSYS and "U" Route Procedures of Transforaminal Percutaneous Endoscopic Lumbar Discectomy on Lumbar Spinal Stenosis Treatment Completed NCT04314453
36 Immediate Effects Of Alliance Therapy In Modulation Of Pain And Disability In Subjects With Knee Osteoarthritis: A Randomized Clinical Trial Completed NCT03928054
37 The Relationship Between the Imaging Assessment Based on Kellgren-Lawrence Scores and In Vivo 3D Knee Kinematic Characteristics in Chinese Patients With Medial Knee Osteoarthritis During Walking Using a New Portal Gait System. Completed NCT02878239
38 The GRANVIA®-C Cervical Disc Prosthesis to Treat Symptomatic Degenerative Disc Diseases Completed NCT01518582
39 Weight-Bearing Tomosynthesis In Evaluation of Foot/AnkIe Completed NCT02432170
40 Arthroscopic Rotator Cuff Repair With and Without Arthroscopic Acromioplasty in the Treatment of Full Thickness Rotator Cuff Completed NCT00290888
41 Effect of Chosen Treatment Methods on Pain, ROM, Associated Symptoms and Functioning in Patients With Cervical Spine Osteoarthritis: Randomised Control Trial Completed NCT03683602
42 Non Randomized Parallel-group Clinical Study to Compare the Efficacy of Periarticular Bone Structure in Patients Treated With Either Tocilizumab or Tumor Necrosis Factor Blockers. Completed NCT02778789 Tocilizumab;TNF-alpha Inhibitor
43 Evaluation of the Efficacy of the InterX 5000 in the Treatment of Chronic Neck and Shoulder Pain Completed NCT01382537
44 Effects of Action Observation Therapy on Pain, Functional Level and Brain Hemodynamic in Patients With Knee Osteoarthritis Completed NCT03245073
45 Comparison Between Segmental Mobilization And Entire Spine Mobilization In Lumbar Spondylosis Completed NCT04158115
46 Efficacy of Eccentric Resistance Training in Persons With Knee Osteoarthritis Completed NCT02350387
47 A Radiographic and Clinical Study Evaluating a Novel Allogeneic, Cancellous, Bone Matrix Containing Viable Stem Cells (Trinity Evolutionâ„¢ Viable Cryopreserved Cellular Bone Matrix) in Patients Undergoing Anterior Cervical Discectomy and Fusion Completed NCT00951938
48 An Assessment of Surgical Techniques for Treating Cervical Spondylotic Myelopathy Completed NCT00285337
49 What is the Clinical and Cost Effectiveness of Arthroscopic Sub-acromial Decompression Surgery? Completed NCT01623011
50 A Randomised Controlled Trial Evaluating the Effects of Shortwave Diathermy and Hydrotherapy for Patients With Osteoarthritis of Their Knees Completed NCT00726492

Search NIH Clinical Center for Exostosis

Cochrane evidence based reviews: exostoses

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Genetic Tests for Exostosis

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Anatomical Context for Exostosis

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MalaCards organs/tissues related to Exostosis:

40
Bone, Spinal Cord, Brain, Bone Marrow, Lung, Testes, Endothelial
Sources

Publications for Exostosis

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Articles related to Exostosis:

(show top 50) (show all 3442)
# Title Authors PMID Year
1
The molecular and cellular basis of exostosis formation in hereditary multiple exostoses. 54 61
18452536 2008
2
Cytoskeletal abnormalities in chondrocytes with EXT1 and EXT2 mutations. 61 54
10750558 2000
3
Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. 61 54
9463333 1998
4
Etoricoxib decreases subchondral bone mass and attenuates biomechanical properties at the early stage of osteoarthritis in a mouse model. 61
32330796 2020
5
Valgus Correctability and Meniscal Extrusion Were Associated With Alignment After Unicompartmental Knee Arthroplasty. 61
32324667 2020
6
Differential patterns of pathology in and interaction between joint tissues in long-term osteoarthritis with different initiating causes: phenotype matters. 61
32360537 2020
7
Subungual exostosis - treatment results with preservation of the nail bed. 61
32195759 2020
8
Fusion of the COL4A5 Gene With NR2F2-AS1 in a Hemangioma Carrying a t(X;15)(q22;q26) Chromosomal Translocation. 61
32576583 2020
9
Associations of clinical outcomes and MRI findings in intra-articular administration of autologous adipose-derived stem cells for knee osteoarthritis. 61
32490058 2020
10
Can isolated removal of osteophytes achieve correction of varus deformity and gap-balance in computer-assisted total knee arthroplasty? 61
32475289 2020
11
Proximal fibular osteotomy alleviates medial compartment knee osteoarthritis in a mouse model. 61
32040598 2020
12
Mechanism of dysphagia after acute traumatic cervical spinal cord injury. 61
32486896 2020
13
Correlations between dental wear and oral cavity characteristics: Mandibular torus, palatine torus, and oral exostoses. 61
32537788 2020
14
Mechanically-induced osteophyte in the rat knee. 61
32147535 2020
15
Effect of Lateral Gutter Osteophyte Resection on Correction of Varus Deformity in Arthroscopic Ankle Arthrodesis. 61
32131624 2020
16
Osteophyte volume calculation using dissimilarity-excluding Procrustes registration of archived bone models from healthy volunteers. 61
31840852 2020
17
Suppression of murine osteoarthritis by 4-methylumbelliferone. 61
31774188 2020
18
Acromegaly is associated with vertebral deformations but not vertebral fractures: Results of a cross-sectional monocentric study. 61
32428690 2020
19
Dextran sulfate-triamcinolone acetonide conjugate nanoparticles for targeted treatment of osteoarthritis. 61
32389649 2020
20
Individuals with high bone mass have increased progression of radiographic and clinical features of knee osteoarthritis. 61
32417557 2020
21
Osteoarthritis Pain Model Induced by Intra-Articular Injection of Mono-Iodoacetate in Rats. 61
32510505 2020
22
Metformin limits osteoarthritis development and progression through activation of AMPK signalling. 61
32156705 2020
23
Deletion of c-Jun N-terminal Kinase Enhances Senescence in Joint Tissues and Increases the Severity of Age-Related Osteoarthritis in Mice. 61
32418287 2020
24
Periarticular osteophyte formation protects against total knee arthroplasty in rheumatoid arthritis patients with advanced joint damage. 61
32418036 2020
25
Early Magnetic Resonance Imaging-Based Changes in Patients With Meniscal Tear and Osteoarthritis: Eighteen-Month Data From a Randomized Controlled Trial of Arthroscopic Partial Meniscectomy Versus Physical Therapy. 61
30932360 2020
26
Macrophages regulate the progression of osteoarthritis. 61
31982565 2020
27
Influence of estradiol treatment on bone marrow cell differentiation in collagenase-induced arthritis. 61
32200413 2020
28
[Osteophyte-induced impingement reduces range of motion in humpback deformity of incorrectly healed scaphoid reconstruction]. 61
32474616 2020
29
Prospective spine at risk program for prevalence of intracanal spine lesions in pediatric hereditary multiple osteochondromas. 61
32367382 2020
30
Large osteophyte removal from the posterior femoral condyle significantly improves extension at the time of surgery in a total knee arthroplasty. 61
32021042 2020
31
Morphological and Imaging Evaluation of the Metacarpophalangeal and Metatarsophalangeal Joints in Healthy and Lame Donkeys. 61
32303299 2020
32
Inhibition of TET1 prevents the development of osteoarthritis and reveals the 5hmC landscape that orchestrates pathogenesis. 61
32295898 2020
33
Mechanical Aspects of Intervertebral Disc Injury and Implications on Biomechanics. 61
31651681 2020
34
Modulation of Hedgehog Signaling by Kappa Opioids to Attenuate Osteoarthritis. 61
32249508 2020
35
Reliability of diagnostic imaging for degenerative diseases with osseous changes in the temporomandibular joint with special emphasis on subchondral cyst. 61
31197739 2020
36
Arthroscopic release for the severely stiff elbow. 61
30945150 2020
37
Significance of the Association between Disc Degeneration Changes on Imaging and Low Back Pain: A Review Article. 61
31679325 2020
38
Lethal mesenteric perforation by osteophytes after blunt abdominal trauma. 61
32239426 2020
39
Low-Intensity Pulsed Ultrasound Alleviates Osteoarthritis Condition Through Focal Adhesion Kinase-Mediated Chondrocyte Proliferation and Differentiation. 61
32281401 2020
40
Effects of Balneotherapy in Jeju Magma-Seawater on Knee Osteoarthritis Model. 61
32313003 2020
41
Bone Mineral Density and Microstructure of the Elbow in Baseball Pitchers: An Analysis by Second-Generation HR-pQCT. 61
31006601 2020
42
Degenerative lumbar scoliosis: added value of coronal images to routine lumbar MRI for nerve root compromise. 61
31900693 2020
43
Pain and knee damage in male and female mice in the medial meniscal transection-induced osteoarthritis. 61
31830592 2020
44
Experience of musculoskeletal ultrasound scanning improves physicians' physical examination skills in assessment of synovitis. 61
32008154 2020
45
Deciphering the potential pharmaceutical mechanism of Guzhi Zengsheng Zhitongwan on rat bone and kidney based on the "kidney governing bone" theory. 61
32295616 2020
46
Transgenic conversion of ω-6 to ω-3 polyunsaturated fatty acids via fat-1 reduces the severity of post-traumatic osteoarthritis. 61
32295649 2020
47
Targeting GM-CSF for collagenase-induced osteoarthritis pain and disease in mice. 61
32028021 2020
48
Subungual exostosis recurrence in a 16-year-old athletic male. 61
32577292 2020
49
Swallowing Difficulty in Diffuse Idiopathic Skeletal Hyperostosis with Metabolic Syndrome. 61
32395457 2020
50
Laparoscopic resection of an exostosis of the os pubis in a horse. 61
31738458 2020
Sources

Variations for Exostosis

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ClinVar genetic disease variations for Exostosis:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GLI2 NM_001374353.1(GLI2):c.2593A>T (p.Thr865Ser)SNV Uncertain significance 523482 rs1332140763 2:121746134-121746134 2:120988558-120988558
Sources

Expression for Exostosis

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Search GEO for disease gene expression data for Exostosis.
Sources

Pathways for Exostosis

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Pathways related to Exostosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Phospholipase-C Pathway 63
Show member pathways
 12.74 HSPG2 GDF5 FN1 COL4A5 COL12A1 ACAN
2
Degradation of the extracellular matrix 65
Show member pathways
 12.35 MMP12 HSPG2 GDF5 FN1 COL4A5 COL12A1
3
Mesenchymal Stem Cells and Lineage-specific Markers 64
11.33 HSPG2 GDF5 FN1 BGLAP ACAN
4
Cell adhesion_ECM remodeling 22
11.28 MMP12 FN1 COL4A5
5
heparan sulfate biosynthesis 1
Show member pathways
 10.85 EXTL3 EXTL2 EXTL1 EXT2 EXT1
6
G-protein signaling_Rap2B regulation pathway 22
10.64 HSPG2 GDF5 FN1 COL4A5 COL12A1 ACAN
Sources

GO Terms for Exostosis

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Cellular components related to Exostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.91 POMGNT2 EXTL3 EXTL2 EXTL1 EXT2 EXT1
2 extracellular region GO:0005576 9.9 MMP12 IHH HSPG2 GDF5 FN1 EXTL2
3 collagen-containing extracellular matrix GO:0062023 9.72 HSPG2 FN1 COL4A5 COL12A1 ACAN
4 endoplasmic reticulum lumen GO:0005788 9.71 FN1 COL4A5 COL12A1 BGLAP
5 extracellular space GO:0005615 9.65 MMP12 IHH HSPG2 GDF5 FN1 COL4A5
6 basement membrane GO:0005604 9.56 HSPG2 FN1 COL4A5 ACAN
7 Golgi lumen GO:0005796 9.54 HSPG2 BGLAP ACAN
8 extracellular matrix GO:0031012 9.1 MMP12 IHH FN1 COL4A5 COL12A1 ACAN

Biological processes related to Exostosis according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.72 MMP12 HSPG2 FN1 COL4A5 ACAN
2 response to mechanical stimulus GO:0009612 9.65 IHH GDF5 BGLAP
3 IRE1-mediated unfolded protein response GO:0036498 9.63 EXTL3 EXTL2 EXTL1
4 glycosaminoglycan biosynthetic process GO:0006024 9.58 HSPG2 EXT2 EXT1
5 ossification GO:0001503 9.56 IHH EXT2 EXT1 BGLAP
6 skeletal system development GO:0001501 9.55 IHH EXTL1 EXT1 BGLAP ACAN
7 heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process GO:0015014 9.49 EXT2 EXT1
8 embryonic skeletal joint development GO:0072498 9.43 IHH EXT1
9 protein glycosylation GO:0006486 9.43 POMGNT2 EXTL3 EXTL2 EXTL1 EXT2 EXT1
10 cellular polysaccharide biosynthetic process GO:0033692 9.37 EXT2 EXT1
11 heparan sulfate proteoglycan biosynthetic process GO:0015012 8.92 EXTL3 EXTL2 EXT2 EXT1

Molecular functions related to Exostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 glucuronosyltransferase activity GO:0015020 9.54 EXTL1 EXT2 EXT1
2 acetylglucosaminyltransferase activity GO:0008375 9.46 POMGNT2 EXTL1 EXT2 EXT1
3 extracellular matrix structural constituent conferring compression resistance GO:0030021 9.43 HSPG2 ACAN
4 transferase activity, transferring glycosyl groups GO:0016757 9.43 POMGNT2 EXTL3 EXTL2 EXTL1 EXT2 EXT1
5 heparan sulfate N-acetylglucosaminyltransferase activity GO:0042328 9.4 EXT2 EXT1
6 N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity GO:0050509 9.32 EXT2 EXT1
7 glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity GO:0001888 9.26 EXTL3 EXTL2
8 glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity GO:0050508 8.8 EXTL1 EXT2 EXT1
Sources

Sources for Exostosis

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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