MCID: SCL018
MIFTS: 55

Scoliosis malady

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Scoliosis

Aliases & Descriptions for Scoliosis:

Name: Scoliosis 12 29 41 42 14

Classifications:



External Ids:

Disease Ontology 12 DOID:0060249
ICD10 33 M41 M41.9
MeSH 42 D012600
NCIt 47 C78603
SNOMED-CT 64 298382003 36773001
UMLS 69 C0036439

Summaries for Scoliosis

MedlinePlus : 41 scoliosis causes a sideways curve of your backbone, or spine. these curves are often s- or c-shaped. scoliosis is most common in late childhood and the early teens, when children grow fast. girls are more likely to have it than boys. it can run in families. symptoms include leaning to one side and having uneven shoulders and hips. sometimes it is easy to notice, but not always. children may get screening for scoliosis at school or during a checkup. if it looks like there is a problem, your doctor will use your medical and family history, a physical exam, and imaging tests to make a diagnosis. treatment depends on your age, how much more you're likely to grow, how much curving there is, and whether the curve is temporary or permanent. people with mild scoliosis might only need checkups to see if the curve is getting worse. others might need to wear a brace or have surgery. nih: national institute of arthritis and musculoskeletal and skin diseases

MalaCards based summary : Scoliosis is related to osteogenesis imperfecta, type iii and gaze palsy, horizontal, with progressive scoliosis. An important gene associated with Scoliosis is ROBO3 (Roundabout Guidance Receptor 3), and among its related pathways/superpathways are Integrin Pathway and Phospholipase-C Pathway. The drugs Aminocaproic Acid and Tranexamic Acid have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and skin, and related phenotypes are behavior/neurological and limbs/digits/tail

Disease Ontology : 12 A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine.

Wikipedia : 71 Scoliosis is a medical condition in which a person\'s spine has a sideways curve. The curve is usually... more...

Related Diseases for Scoliosis

Diseases in the Scoliosis family:

Infantile Scoliosis

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

(show top 50) (show all 350)
id Related Disease Score Top Affiliating Genes
1 osteogenesis imperfecta, type iii 31.1 COL1A1 COL1A2
2 gaze palsy, horizontal, with progressive scoliosis 12.2
3 adolescent idiopathic scoliosis 12.2
4 idiopathic scoliosis 12.1
5 acrodysplasia scoliosis 12.0
6 seizures-scoliosis-macrocephaly syndrome 12.0
7 scoliosis, isolated 3 12.0
8 macrocephaly, alopecia, cutis laxa, and scoliosis 12.0
9 infantile scoliosis 11.8
10 scoliosis with unilateral unsegmented bar 11.8
11 radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation 11.8
12 scoliosis, arachnodactyly, and blindness 11.7
13 rhizomelic dysplasia, scoliosis, and retinitis pigmentosa 11.7
14 opthalmoplegia progressive external scoliosis 11.7
15 syncamptodactyly scoliosis 11.7
16 duane anomaly-myopathy-scoliosis syndrome 11.7
17 spondylocarpotarsal synostosis syndrome 11.6
18 steel syndrome 11.6
19 epiphyseal chondrodysplasia, miura type 11.3
20 pilotto syndrome 11.2
21 catshl syndrome 11.2
22 arthrogryposis, distal, type 4 11.2
23 friedreich ataxia 11.2
24 spondylocostal dysostosis 5 11.1
25 duchenne muscular dystrophy 11.0
26 marfan syndrome 11.0
27 central core disease 11.0
28 larsen syndrome 11.0
29 escobar syndrome 11.0
30 spondylolisthesis 10.9
31 rett syndrome 10.9
32 spinal muscular atrophy 10.9
33 spinal stenosis 10.9
34 brachyolmia type 3 10.9
35 neurofibromatosis 10.9
36 spondylocostal dysostosis 3, autosomal recessive 10.8
37 tethered cord syndrome 10.8
38 ehlers-danlos syndrome 10.8
39 shprintzen-goldberg syndrome 10.8
40 diastrophic dysplasia 10.8
41 frontometaphyseal dysplasia 10.8
42 multiple epiphyseal dysplasia 10.8
43 smed strudwick type 10.7
44 iida kannari syndrome 10.7
45 shprintzen omphalocele syndrome 10.7
46 escobar syndrome, type b 10.7
47 spondylometaphyseal dysplasia, kozlowski type 10.6
48 arthrogryposis, distal, type 2a 10.6
49 myopathy, areflexia, respiratory distress, and dysphagia, early-onset 10.6
50 mend syndrome 10.6

Graphical network of the top 20 diseases related to Scoliosis:



Diseases related to Scoliosis

Symptoms & Phenotypes for Scoliosis

MGI Mouse Phenotypes related to Scoliosis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.96 COL2A1 DLL3 FBN1 FBN2 LBX1 MTNR1A
2 limbs/digits/tail MP:0005371 9.76 COL1A2 COL2A1 DLL3 FBN1 FBN2 LBX1
3 muscle MP:0005369 9.56 ADGRG6 COL1A1 COL1A2 DLL3 FBN1 FBN2
4 skeleton MP:0005390 9.32 ADGRG6 BNC2 COL1A1 COL1A2 COL2A1 DLL3

Drugs & Therapeutics for Scoliosis

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

(show top 50) (show all 148)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aminocaproic Acid Approved, Investigational Phase 4,Phase 1 60-32-2 564
2
Tranexamic Acid Approved Phase 4,Phase 3,Phase 1,Phase 2 1197-18-8 5526
3
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
4
Morphine Approved, Investigational Phase 4,Phase 3,Phase 2 57-27-2 5288826
5
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 1 76631-46-4, 113775-47-6 68602 5311068 56032
6
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
7
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
8
Alendronate Approved Phase 4 121268-17-5, 66376-36-1 2088
9
Ketamine Approved, Vet_approved Phase 4,Phase 2 6740-88-1 3821
10
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 1 2078-54-8 4943
11
Guaifenesin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 93-14-1 3516
12
Methadone Approved Phase 4,Phase 3,Phase 2,Phase 1 76-99-3 4095
13
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
14
Gabapentin Approved, Investigational Phase 4,Phase 3 60142-96-3 3446
15
Acetaminophen Approved Phase 4 103-90-2 1983
16
Cyclobenzaprine Approved Phase 4 303-53-7 2895
17
Ibuprofen Approved Phase 4 15687-27-1 3672
18
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
19
Pregabalin Approved, Illicit, Investigational Phase 4 148553-50-8 5486971
20
Povidone-iodine Approved Phase 4 25655-41-8
21 Coagulants Phase 4,Phase 3,Phase 1,Phase 2
22 Hemostatics Phase 4,Phase 3,Phase 1,Phase 2
23 Thrombin Phase 4
24 Antifibrinolytic Agents Phase 4,Phase 3,Phase 1,Phase 2
25 Anesthetics Phase 4,Phase 3,Phase 2,Phase 1
26 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1
27 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
28 Narcotics Phase 4,Phase 3,Phase 2,Phase 1
29
Cobalt Phase 4 7440-48-4 104729
30 Micronutrients Phase 4,Phase 3
31 Trace Elements Phase 4,Phase 3
32 Anesthetics, Local Phase 4
33 Analgesics Phase 4,Phase 3,Phase 2,Phase 1
34 Analgesics, Opioid Phase 4,Phase 3,Phase 2,Phase 1
35 Adjuvants, Anesthesia Phase 4
36 Adrenergic Agents Phase 4,Phase 1
37 Adrenergic Agonists Phase 4,Phase 1
38 Adrenergic alpha-2 Receptor Agonists Phase 4,Phase 1
39 Adrenergic alpha-Agonists Phase 4,Phase 1
40 Analgesics, Non-Narcotic Phase 4,Phase 1
41 Anesthetics, General Phase 4,Phase 1,Phase 2
42 Anesthetics, Intravenous Phase 4,Phase 2,Phase 1
43 Anti-Anxiety Agents Phase 4,Phase 3
44 GABA Agents Phase 4,Phase 3
45 GABA Modulators Phase 4
46 Hypnotics and Sedatives Phase 4,Phase 2,Phase 1
47 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
48 Psychotropic Drugs Phase 4,Phase 3
49 Tranquilizing Agents Phase 4,Phase 3
50 Bone Density Conservation Agents Phase 4,Phase 3

Interventional clinical trials:

(show top 50) (show all 223)
id Name Status NCT ID Phase
1 Effect of Human Thrombin With Gelatin Matrix on Perioperative Blood Loss in Scoliosis Surgery Unknown status NCT01451788 Phase 4
2 Tranexamic Acid (TXA) Versus Epsilon Aminocaproic Acid (EACA) Versus Placebo for Spine Surgery Unknown status NCT00958581 Phase 4
3 Scoliosis Surgery Using the PASS® LP System Completed NCT01019109 Phase 4
4 Surgical Outcomes Using Variable Rod Diameters in the Treatment of Idiopathic Scoliosis Completed NCT00510575 Phase 4
5 Continuous Local Infusion of Anesthetic at the Incisional Site for Scoliosis Surgery Completed NCT00508066 Phase 4
6 Intermittent Epidural Bolus Versus Epidural Infusion for Posterior Spinal Fusion After Adolescent Idiopathic Scoliosis Completed NCT02669004 Phase 4
7 Effects of Dexmedetomidine on the Postoperative Experience in Children Completed NCT01748630 Phase 4
8 Assessment of Response to Treatment of Osteoporosis With Oral Bisphosphonates in Patients With Muscular Dystrophy Completed NCT01882400 Phase 4
9 Low Dose Ketamine Study on Opioid Tolerance and Hyperalgesia Completed NCT01325493 Phase 4
10 Blood Propofol Concentrations in Children During Spinal Surgery Completed NCT01932424 Phase 4
11 The Use of Intraoperative Intrathecal Morphine Versus Epidural Extended Release Morphine for Postoperative Pain Control in Pediatric Patients Undergoing Posterior Spinal Fusion Completed NCT00880607 Phase 4
12 Post Market Surveillance to Evaluate the Effectiveness the Polaris Deformity Spinal System Completed NCT01220505 Phase 4
13 Efficacy of Ketamine for Improvement in Postoperative Pain Control After Spinal Fusion for Idiopathic Scoliosis Recruiting NCT02651324 Phase 4
14 Wound Vac Bandage Comparison After Spinal Fusion Recruiting NCT03000010 Phase 4
15 A Trial Comparing Single Intra-op Dose of Methadone Versus Placebo in Patients Undergoing Spine Surgery Recruiting NCT02206685 Phase 4
16 Effect of Pregabalin on Immediate Post-operative and Longterm Pain Recruiting NCT02464813 Phase 4
17 BIO4 Clinical Case Study: Cervical Spine Recruiting NCT03077204 Phase 4
18 Pain Control in Pediatric Posterior Spine Fusion Patients: The Effect of Gabapentin Recruiting NCT01977937 Phase 4
19 The Efficacy and Population Pharmacokinetics of Tranexamic Acid for Craniosynostosis Surgery Recruiting NCT02188576 Phase 4
20 Bacterial Contamination: Iodine vs Saline Irrigation in Pediatric Spine Surgery Not yet recruiting NCT02527512 Phase 4
21 Phase IV Comparing Rods of Yield Strengths to Correct Adolescent Idiopathic Scoliosis. Terminated NCT00768313 Phase 4
22 Posterior Spinal Fusion With Two Energy Dissection Techniques Terminated NCT02465099 Phase 4
23 Comparison of Actifuse ABX and Local Bone in Spinal Surgery Terminated NCT01852747 Phase 4
24 Analgesic Effects of Gabapentin After Scoliosis Surgery in Children Completed NCT00684112 Phase 3
25 Effect of Early Morphine Administration on the Development of Acute Opioid Tolerance During Pediatric Scoliosis Surgery Completed NCT00737997 Phase 3
26 Bracing in Adolescent Idiopathic Scoliosis Trial (BrAIST) Completed NCT00448448 Phase 3
27 Calcium + Vitamin D Supplementation for Low Bone Mass in Adolescent Idiopathic Scoliosis (AIS) Completed NCT01103115 Phase 3
28 IRB-HSR# 14145 R,S Methadone: Analgesia and Pharmacokinetics in Adolescents Undergoing Scoliosis Correction Completed NCT01205256 Phase 3
29 Recombinant Human Erythropoietin Compared to Autologous Pre-Donation Prior to Scoliosis Surgery in Children. Completed NCT00323752 Phase 3
30 Improving Low Bone Mass With Vibration Therapy in Adolescent Idiopathic Scoliosis (AIS) Completed NCT01108211 Phase 3
31 An Open-label Trial of Clevidipine for Controlled Hypotension During Spinal Fusion Completed NCT01645111 Phase 2, Phase 3
32 Validation of a New Generation of Optimized Orthoses for Personalized Treatment of Adolescent Idiopathic Scoliosis Recruiting NCT02285621 Phase 3
33 Amantadine Sulphate Usage in Spine Deformities Corrective Surgeries Patients Recruiting NCT03178708 Phase 2, Phase 3
34 Evaluation of Topical and Intravenous Tranexamic Acid in Surgical Treatment of Lumbar Degenerative Disease Enrolling by invitation NCT02496364 Phase 3
35 Perioperative Methadone Use to Decrease Opioid Requirement in Pediatric Spinal Fusion Patients Not yet recruiting NCT02558010 Phase 3
36 The Use of Thoraco-lumbo-sacral Orthoses (TLSOs) in the Treatment of Adolescent Idiopathic Scoliosis (AIS) Terminated NCT01370057 Phase 3
37 Multicenter Schroth Exercise Trial for Scoliosis Unknown status NCT01610908 Phase 2
38 The Effect of Magnesium Sulfate on Motor and Somatosensory Evoked Potentials in Children Undergoing Scoliosis Surgery Completed NCT01148888 Phase 2
39 Comparing Two Instrumentation Systems for the Treatment of Adolescent Scoliosis Completed NCT00273598 Phase 2
40 Does Tranexamic Acid Decrease Blood Loss in Pediatric Idiopathic Scoliosis Surgery? Completed NCT01813058 Phase 1, Phase 2
41 Comparison of the Efficacy of Ketamine in Pediatric Patients With Idiopathic Scoliosis After Surgery Completed NCT02571491 Phase 2
42 Methadone vs Magnesium in Spinal Fusion Completed NCT01795495 Phase 2
43 Phase II Clinical Study of Thalidomide in the Treatment of Ankylosing Spondylitis Completed NCT02201043 Phase 2
44 Treatment of Rett Syndrome With rhIGF-1 (Mecasermin [rDNA]Injection) Completed NCT01253317 Phase 1, Phase 2
45 The Use of Dermabond Versus Standard Staple for Wound Closure in Children With Neuromuscular Scoliosis Undergoing Spinal Deformity Correction Surgery Recruiting NCT01135940 Phase 2
46 Value of 3D Modeling in Spine Surgery Recruiting NCT02771899 Phase 2
47 Safety and Efficacy Study of Spinal Tethering Recruiting NCT02897453 Phase 2
48 Phase 2a Study on Allogeneic Osteoblastic Cells Implantation in Lumbar Spinal Fusion Recruiting NCT02205138 Phase 2
49 Safety and Efficacy of SA4Ag Vaccine in Adults Having Elective Open Posterior Spinal Fusion Procedures With Multilevel Instrumentation Recruiting NCT02388165 Phase 2
50 Non-Idiopathic Scoliosis Treated With Tranexamic Acid Suspended NCT01089140 Phase 2

Search NIH Clinical Center for Scoliosis

Cochrane evidence based reviews: scoliosis

Genetic Tests for Scoliosis

Genetic tests related to Scoliosis:

id Genetic test Affiliating Genes
1 Scoliosis 29

Anatomical Context for Scoliosis

MalaCards organs/tissues related to Scoliosis:

39
Bone, Testes, Skin, Spinal Cord, Lung, Heart, Breast

Publications for Scoliosis

Articles related to Scoliosis:

(show top 50) (show all 779)
id Title Authors Year
1
Asymmetry of the Vertebral Body and Pedicles in the True Transverse Plane in Adolescent Idiopathic Scoliosis: A CT-Based Study. ( 28038692 )
2017
2
Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital Scoliosis. ( 28054739 )
2017
3
Magnetically controlled growing rods for scoliosis surgery. ( 28044467 )
2017
4
Unique local bone tissue characteristics in iliac crest bone biopsy from adolescent idiopathic scoliosis with severe spinal deformity. ( 28054655 )
2017
5
Estrogen receptor gene polymorphism in patients with degenerative lumbar scoliosis. ( 27399961 )
2017
6
Preventing Fusion Mass Shift Avoids Postoperative Distal Curve Adding-on in Adolescent Idiopathic Scoliosis. ( 28050819 )
2017
7
Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associated with 7q34-q36.3 heterozygous terminal deletion. ( 28488400 )
2017
8
Reproducibility of sagittal radiographic parameters in adolescent idiopathic scoliosis-a guide to reference values using serial imaging. ( 28065817 )
2017
9
The optimal treatment for symptomatic neurogenic claudication or radiculopathy in the presence of mild degenerative scoliosis remains unclear. ( 27986245 )
2017
10
Six-Month Follow-up of Supervised Spinal Stabilization Exercises for Low Back Pain in Adolescent Idiopathic Scoliosis. ( 27984472 )
2017
11
Use of the smartphone for end vertebra selection in scoliosis. ( 28077254 )
2017
12
Predictors for Postoperative Shoulder Balance in Lenke 1 Adolescent Idiopathic Scoliosis: A Prospective Cohort Study. ( 28038696 )
2017
13
Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors. ( 28347601 )
2017
14
Is the Superior Articular Process a Reliable Landmark for Determining the Transverse Plane Angulation of Thoracic Pedicles in Patients With Adolescent Idiopathic Scoliosis? ( 28038694 )
2017
15
Multimodal intraoperative neuromonitoring in scoliosis surgery: A two-year prospective analysis in a single centre. ( 28084243 )
2017
16
Porcine spine finite element model: a complementary tool to experimental scoliosis fusionless instrumentation. ( 28070685 )
2017
17
Motivations for Compliance With Bracing in Adolescent Idiopathic Scoliosis. ( 28038693 )
2017
18
Uniplanar Versus Fixed Pedicle Screws in the Correction of Thoracic Kyphosis in the Treatment of Adolescent Idiopathic Scoliosis (AIS). ( 28060179 )
2017
19
Accelerated Discharge Protocol for Posterior Spinal Fusion Patients With Adolescent Idiopathic Scoliosis Decreases Hospital Postoperative Charges 22. ( 28072636 )
2017
20
National Trends in the Surgical Management of Adolescent Idiopathic Scoliosis: Analysis of a National Estimate of 60,108 Children From the National Inpatient Sample Over a 13-Year Time Period in the United States. ( 28038695 )
2017
21
Diagnostic Accuracy of Combined Multimodality SSEP and TcMEP Intraoperative Monitoring in Patients with Idiopathic Scoliosis. ( 27172278 )
2016
22
Reversible Intraoperative Neurophysiologic Monitoring Alerts in Patients Undergoing Arthrodesis for Adolescent Idiopathic Scoliosis: What Are the Outcomes of Surgery? ( 27605692 )
2016
23
Entire syringomyelia associated with Chiari II malformation and severe scoliosis and hydrocephalus. ( 27858679 )
2016
24
Morphometric analysis of iatrogenic breast asymmetry secondary to operative breast shape changes in thoracic adolescent idiopathic scoliosis. ( 27137998 )
2016
25
Spinal growth velocity versus height velocity in predicting curve progression in peri-pubertal girls with idiopathic scoliosis. ( 27562617 )
2016
26
Long-Term Effects of Untreated Adolescent Idiopathic Scoliosis: A Review of the Literature. ( 27994795 )
2016
27
Fetal Spinal Deformity Caused by Uterine Synechiae Mimicking Severe Scoliosis: A Case Report. ( 27172642 )
2016
28
Magnetically controlled growing rod in early onset scoliosis: a 30-case multicenter study. ( 28040873 )
2016
29
Braces for Idiopathic Scoliosis in Adolescents. ( 27584672 )
2016
30
Association of spinal deformity and pelvic tilt with gait asymmetry in adolescent idiopathic scoliosis patients: Investigation of ground reaction force. ( 27214246 )
2016
31
How does implant distribution affect 3D correction and bone-screw forces in thoracic adolescent idiopathic scoliosis spinal instrumentation? ( 27639485 )
2016
32
Adolescent idiopathic scoliosis and back pain. ( 27648474 )
2016
33
Does Surgical Correction of Right Thoracic Scoliosis in Syringomyelia Produce Outcomes Similar to Those in Adolescent Idiopathic Scoliosis? ( 26888677 )
2016
34
Asymmetrical ossification in the epiphyseal ring of patients with adolescent idiopathic scoliosis: a retrospective review. ( 27143739 )
2016
35
Characteristics and Clinical Relevance of the Osseous Spur in Patients with Congenital Scoliosis and Split Spinal Cord Malformation. ( 28002373 )
2016
36
Cervical sagittal alignment in adolescent idiopathic scoliosis patients (Lenke type 1-6). ( 28025024 )
2016
37
Comparison of pedicle screw fixation and hybrid instrumentation in adolescent idiopathic scoliosis. ( 27130393 )
2016
38
Validity and Reliability of Spine Rasterstereography in Patients with Adolescent Idiopathic Scoliosis. ( 27172281 )
2016
39
Management of scoliosis in patients with Duchenne muscular dystrophy and spinal muscular atrophy: A literature review. ( 26966797 )
2016
40
Scoliosis in osteogenesis imperfecta caused by COL1A1/COL1A2 mutations - genotype-phenotype correlations and effect of bisphosphonate treatment. ( 26927310 )
2016
41
Experience in Perioperative Management of Patients Undergoing Posterior Spine Fusion for Neuromuscular Scoliosis. ( 28058256 )
2016
42
Preliminary Results of Magnetically Controlled Growing Rods for Early Onset Scoliosis. ( 27182837 )
2016
43
Lower Muscle Mass and Body Fat in Adolescent Idiopathic Scoliosis Are Associated With Abnormal Leptin Bioavailability. ( 26656046 )
2016
44
Intraoperative implant rod three-dimensional geometry measured by dual camera system during scoliosis surgery. ( 27175467 )
2016
45
Does Reoperation Risk Vary for Different Types of Pediatric Scoliosis? ( 27603188 )
2016
46
Spot14/Spot14R expression may be involved in MSC adipogenic differentiation in patients with adolescent idiopathic scoliosis. ( 27082501 )
2016
47
The outcome of modified version of the Cheneau brace in Adolescent Idiopathic Scoliosis (AIS) based on SRS and SOSORT criteria: a retrospective study. ( 27145218 )
2016
48
Metallosis Presenting as a Progressive Neurologic Deficit Four Years after a Posterior Spinal Fusion for Adolescent Idiopathic Scoliosis: A Case Report. ( 27172284 )
2016
49
A neglected point in surgical treatment of adolescent idiopathic scoliosis: Variations in the number of vertebrae. ( 27559975 )
2016
50
Efficacy of tranexamic acid in reducing allogeneic blood products in adolescent idiopathic scoliosis surgery. ( 27117696 )
2016

Variations for Scoliosis

ClinVar genetic disease variations for Scoliosis:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 NSD1 NM_022455.4(NSD1): c.6050G> A (p.Arg2017Gln) single nucleotide variant Pathogenic/Likely pathogenic rs587784177 GRCh37 Chromosome 5, 176710828: 176710828
2 FBN1 NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr) single nucleotide variant Pathogenic/Likely pathogenic rs727503054 GRCh37 Chromosome 15, 48712949: 48712949
3 CHD7 NM_017780.3(CHD7): c.6892C> T (p.Gln2298Ter) single nucleotide variant Pathogenic rs1057518891 GRCh37 Chromosome 8, 61767038: 61767038
4 FBN1 NM_000138.4(FBN1): c.6800A> T (p.Asn2267Ile) single nucleotide variant Pathogenic rs1057518812 GRCh37 Chromosome 15, 48722939: 48722939

Expression for Scoliosis

Search GEO for disease gene expression data for Scoliosis.

Pathways for Scoliosis

GO Terms for Scoliosis

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

id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.71 COL1A1 COL1A2 COL2A1 FBN1
2 collagen trimer GO:0005581 9.54 COL1A1 COL1A2 COL2A1
3 basement membrane GO:0005604 9.5 ACAN COL2A1 FBN1
4 extracellular matrix GO:0031012 9.43 ACAN COL1A1 COL1A2 COL2A1 FBN1 FBN2
5 microfibril GO:0001527 9.26 FBN1 FBN2
6 proteinaceous extracellular matrix GO:0005578 9.17 ACAN COL1A1 COL1A2 COL2A1 FBN1 FBN2
7 collagen type I trimer GO:0005584 9.16 COL1A1 COL1A2

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 extracellular matrix disassembly GO:0022617 9.67 ACAN FBN1 FBN2
2 collagen catabolic process GO:0030574 9.61 COL1A1 COL1A2 COL2A1
3 limb morphogenesis GO:0035108 9.52 COL2A1 FBN2
4 protein heterotrimerization GO:0070208 9.51 COL1A1 COL1A2
5 embryonic eye morphogenesis GO:0048048 9.48 FBN1 FBN2
6 skin morphogenesis GO:0043589 9.46 COL1A1 COL1A2
7 collagen fibril organization GO:0030199 9.46 ACAN COL1A1 COL1A2 COL2A1
8 skeletal system development GO:0001501 9.43 ACAN COL1A1 COL1A2 COL2A1 DLL3 FBN1
9 bone trabecula formation GO:0060346 9.4 COL1A1 FBN2
10 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.37 COL1A1 COL2A1
11 regulation of cellular response to growth factor stimulus GO:0090287 9.32 FBN1 FBN2
12 sequestering of TGFbeta in extracellular matrix GO:0035583 9.26 FBN1 FBN2
13 extracellular matrix organization GO:0030198 9.17 ACAN COL1A1 COL1A2 COL2A1 FBN1 FBN2

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

id Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.8 ACAN CALM1 DLL3 FBN1 FBN2 MATN1
2 extracellular matrix constituent conferring elasticity GO:0030023 9.26 FBN1 FBN2
3 extracellular matrix structural constituent GO:0005201 9.17 ACAN COL1A1 COL1A2 COL2A1 FBN1 FBN2
4 melatonin receptor activity GO:0008502 9.16 MTNR1A MTNR1B
5 platelet-derived growth factor binding GO:0048407 9.13 COL1A1 COL1A2 COL2A1

Sources for Scoliosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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