Aliases & Classifications for Idiopathic Scoliosis

MalaCards integrated aliases for Idiopathic Scoliosis:

Name: Idiopathic Scoliosis 12 6 15
Scoliosis Idiopathic 55

Classifications:



External Ids:

Disease Ontology 12 DOID:0060250

Summaries for Idiopathic Scoliosis

Disease Ontology : 12 A scoliosis with no known cause.

MalaCards based summary : Idiopathic Scoliosis, also known as scoliosis idiopathic, is related to pectus excavatum and scoliosis. An important gene associated with Idiopathic Scoliosis is CHL1-AS2 (CHL1 Antisense RNA 2
We found strongest evidence of association with chromosome 3p26.3 SNPs (rs1400180,A>C) in the proximity of the CHL1 gene (P < 8*10^(-8) for rs1400180).
Dysfunction Pattern: Mutation), and among its related pathways/superpathways are Circadian entrainment and Apoptosis and survival_Anti-apoptotic action of nuclear ESR1 and ESR2. The drugs Thrombin and Morphine have been mentioned in the context of this disorder. Affiliated tissues include bone, lung and skeletal muscle, and related phenotypes are limbs/digits/tail and muscle

Related Diseases for Idiopathic Scoliosis

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

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 pectus excavatum 28.8 ACAN ADGRG6 FBN1
2 scoliosis 25.1 ACAN ADGRG6 BNC2 CALM1 CHD7 COL1A2
3 scoliosis, isolated 1 12.1
4 scoliosis, isolated 3 11.6
5 horizontal gaze palsy with progressive scoliosis 11.0
6 scoliosis, isolated 2 10.9
7 scoliosis, isolated 4 10.9
8 scoliosis, isolated 5 10.9
9 progesterone resistance 10.6 ESR1 ESR2
10 postmenopausal atrophic vaginitis 10.5 ESR1 ESR2
11 progesterone-receptor positive breast cancer 10.5 ESR1 ESR2
12 gender identity disorder 10.5 ESR1 ESR2
13 estrogen excess 10.5 ESR1 ESR2
14 rare isolated myopia 10.4 CHD7 FBN1
15 protrusio acetabuli 10.4 ESR1 FBN1
16 endometriosis of ovary 10.3 ESR1 ESR2
17 lobular neoplasia 10.2 ESR1 ESR2
18 syringomyelia 10.0
19 stiff skin syndrome 10.0 COL1A2 FBN1
20 dental fluorosis 10.0 COL1A2 ESR1 ESR2
21 back pain 10.0
22 scleroderma, familial progressive 10.0 COL1A2 FBN1
23 vaginitis 9.9 ESR1 ESR2
24 spondylolisthesis 9.9
25 cervicitis 9.9
26 ganglioneuroma 9.9
27 osteoblastoma 9.8
28 spondylolysis 9.8
29 chiari malformation 9.8
30 exotropia 9.8 ACAN FBN1
31 achondrogenesis, type ii 9.7 ACAN MATN1
32 bone structure disease 9.7 ACAN FBN1 LBX1
33 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 9.6
34 marfan syndrome 9.6
35 motion sickness 9.6
36 scheuermann disease 9.6
37 neural tube defects 9.6
38 thrombophilia due to thrombin defect 9.6
39 varicose veins 9.6
40 diastematomyelia 9.6
41 insulin-like growth factor i 9.6
42 orthostatic intolerance 9.6
43 body mass index quantitative trait locus 1 9.6
44 anxiety 9.6
45 focal dystonia 9.6
46 alexithymia 9.6
47 thrombosis 9.6
48 spina bifida occulta 9.6
49 respiratory failure 9.6
50 arachnoiditis 9.6

Graphical network of the top 20 diseases related to Idiopathic Scoliosis:



Diseases related to Idiopathic Scoliosis

Symptoms & Phenotypes for Idiopathic Scoliosis

MGI Mouse Phenotypes related to Idiopathic Scoliosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.63 CHD7 COL1A2 ESR1 ESR2 FBN1 LBX1
2 muscle MP:0005369 9.5 ADGRG6 CHD7 COL1A2 ESR1 ESR2 FBN1
3 skeleton MP:0005390 9.23 ADGRG6 BNC2 CHD7 COL1A2 ESR1 ESR2

Drugs & Therapeutics for Idiopathic Scoliosis

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

(show top 50) (show all 89)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Thrombin Approved, Investigational Phase 4
2
Morphine Approved, Investigational Phase 4,Phase 2 57-27-2 5288826
3
Ketamine Approved, Vet_approved Phase 4,Phase 2 6740-88-1 3821
4
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
5
Propofol Approved, Investigational, Vet_approved Phase 4,Not Applicable 2078-54-8 4943
6
Ibuprofen Approved Phase 4,Not Applicable 15687-27-1 3672
7
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
8
Pregabalin Approved, Illicit, Investigational Phase 4 148553-50-8 5486971
9
Acetaminophen Approved Phase 4 103-90-2 1983
10
Cyclobenzaprine Approved Phase 4 303-53-7 2895
11
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
12 Coagulants Phase 4,Phase 1,Phase 2,Not Applicable
13 Hemostatics Phase 4,Phase 1,Phase 2,Not Applicable
14 Analgesics Phase 4,Phase 3,Phase 2
15 Analgesics, Opioid Phase 4,Phase 2
16 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Not Applicable
17 Narcotics Phase 4,Phase 2
18 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2
19 Anesthetics Phase 4,Phase 1,Phase 2,Not Applicable
20 Anesthetics, Dissociative Phase 4,Phase 2
21 Anesthetics, General Phase 4,Phase 1,Phase 2,Not Applicable
22 Anesthetics, Intravenous Phase 4,Phase 2,Not Applicable
23 Excitatory Amino Acid Antagonists Phase 4,Phase 3,Phase 2
24 Excitatory Amino Acids Phase 4,Phase 3,Phase 2
25 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
26 Anesthetics, Local Phase 4
27 Hypnotics and Sedatives Phase 4,Phase 2,Not Applicable
28 Anti-Anxiety Agents Phase 4,Phase 3
29 Anticonvulsants Phase 4,Phase 3,Phase 2
30 calcium channel blockers Phase 4,Phase 3,Phase 2
31 Calcium, Dietary Phase 4,Phase 3,Phase 2
32 Psychotropic Drugs Phase 4,Phase 3
33 Tranquilizing Agents Phase 4,Phase 3
34 Acetaminophen, hydrocodone drug combination Phase 4
35
Calcium Carbonate Approved, Investigational Phase 3 471-34-1
36
Gabapentin Approved, Investigational Phase 3 60142-96-3 3446
37
gamma-Aminobutyric acid Approved, Investigational Phase 3 56-12-2 119
38
Clevidipine Approved, Investigational Phase 2, Phase 3 167221-71-8
39
Ergocalciferol Approved, Nutraceutical Phase 3 50-14-6 5280793
40
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
41
Vitamin D3 Approved, Nutraceutical Phase 3 67-97-0 6221 5280795
42 Antacids Phase 3
43 Anti-Ulcer Agents Phase 3
44 Bone Density Conservation Agents Phase 3
45 Ergocalciferols Phase 3
46 Gastrointestinal Agents Phase 3
47 Micronutrients Phase 3
48 Trace Elements Phase 3
49 Vitamins Phase 3
50 Antimanic Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 121)
# Name Status NCT ID Phase Drugs
1 Effect of Human Thrombin With Gelatin Matrix on Perioperative Blood Loss in Scoliosis Surgery Unknown status NCT01451788 Phase 4
2 Intermittent Epidural Bolus Versus Epidural Infusion for Posterior Spinal Fusion After Adolescent Idiopathic Scoliosis Completed NCT02669004 Phase 4 Intermittent bolus epidural morphine;continuous epidural morphine
3 Surgical Outcomes Using Variable Rod Diameters in the Treatment of Idiopathic Scoliosis Completed NCT00510575 Phase 4
4 Low Dose Ketamine Study on Opioid Tolerance and Hyperalgesia Completed NCT01325493 Phase 4 Ketamine;Normal Saline
5 Continuous Local Infusion of Anesthetic at the Incisional Site for Scoliosis Surgery Completed NCT00508066 Phase 4 Bupivacaine;Normal Saline
6 Blood Propofol Concentrations in Children During Spinal Surgery Completed NCT01932424 Phase 4 Propofol 2% (Diprivan 2%, Astra Zeneca UK)
7 Effect of Pregabalin on Immediate Post-operative and Longterm Pain Recruiting NCT02464813 Phase 4 Pregabalin;Sugar pill;Oxycodone
8 Efficacy of Ketamine for Improvement in Postoperative Pain Control After Spinal Fusion for Idiopathic Scoliosis Active, not recruiting NCT02651324 Phase 4 Ketamine
9 Phase IV Comparing Rods of Yield Strengths to Correct Adolescent Idiopathic Scoliosis. Terminated NCT00768313 Phase 4
10 Validation of a New Generation of Optimized Orthoses for Personalized Treatment of Adolescent Idiopathic Scoliosis Unknown status NCT02285621 Phase 3
11 Calcium + Vitamin D Supplementation for Low Bone Mass in Adolescent Idiopathic Scoliosis (AIS) Completed NCT01103115 Phase 3
12 Improving Low Bone Mass With Vibration Therapy in Adolescent Idiopathic Scoliosis (AIS) Completed NCT01108211 Phase 3
13 Analgesic Effects of Gabapentin After Scoliosis Surgery in Children Completed NCT00684112 Phase 3 Gabapentin;Placebo
14 An Open-label Trial of Clevidipine for Controlled Hypotension During Spinal Fusion Completed NCT01645111 Phase 2, Phase 3 Clevidipine
15 The Effects of Fibrinogen Concentrate Infusion on Blood Loss and Allogeneic Blood Conservation in Scoliosis Surgery Recruiting NCT03183479 Phase 3 Fibrinogen Concentrate Human;Normal saline
16 Multicenter Schroth Exercise Trial for Scoliosis Unknown status NCT01610908 Phase 2
17 Does Tranexamic Acid Decrease Blood Loss in Pediatric Idiopathic Scoliosis Surgery? Completed NCT01813058 Phase 1, Phase 2 Tranexamic Acid;Placebo
18 Comparison of the Efficacy of Ketamine in Pediatric Patients With Idiopathic Scoliosis After Surgery Completed NCT02571491 Phase 2 Ketamine Hydrochloride;Remifentanil;Morphine hydrochloride
19 Comparing Two Instrumentation Systems for the Treatment of Adolescent Scoliosis Completed NCT00273598 Phase 2
20 Methadone vs Magnesium in Spinal Fusion Completed NCT01795495 Phase 2 Methadone hydrochloride;Magnesium Sulfate;Remifentanil
21 The Effect of Magnesium Sulfate on Motor and Somatosensory Evoked Potentials in Children Undergoing Scoliosis Surgery Completed NCT01148888 Phase 2 Magnesium
22 Influence of Leg Length Discrepancy on the Spinal Shape and Biomechanics in Functional and Idiopathic Scoliosis Patients Completed NCT00155545 Phase 1
23 Safety and Efficacy of Body-mapping Tank Top Equipped With Biofeedback System for Adolescent With Early Scoliosis Completed NCT02471508 Phase 1
24 Safety and Efficacy of Posture Correction Girdle for Adolescent With Early Scoliosis Enrolling by invitation NCT01776736 Phase 1
25 Evaluation of the Providence Nighttime Brace for the Treatment of Adolescence Idiopathic Scoliosis Unknown status NCT02227537
26 Impact of the Choice of the Distal Vertebral in the Surgery of the Thoracic Adolescent Idiopathic Scoliosis Unknown status NCT02791776 Not Applicable
27 Scoliosis-Specific Exercises for At-Risk AIS Curves Unknown status NCT02807545 Not Applicable
28 The Idiopathic Scoliosis and Its Treatment (Orthopaedic and Surgery): Effect of the Severity, the Orthosis and the Arthrodesis on the Gait Unknown status NCT00842218
29 Study of DDAVP Combined With TXA on the Blood Loss and Transfusion Need During and After Scoliosis Correction Surgery Unknown status NCT02084342 Not Applicable tranexamic acid and sodium chloride injection;normal saline;desmopressin acetate injection
30 Multi-Center Project: Spinal Abnormalities in Neurofibromatosis Type1 (NF1) Patients Unknown status NCT00667836
31 Three-dimensional Effects of Bracing in Adolescent Idiopathic Scoliosis Completed NCT03298256
32 The Effect of the Inspiratory Muscle Training on Respiratory Parameters and Functional Capacity in Idiopathic Scoliosis Completed NCT03391895 Not Applicable
33 The Comparison of Core Stabilization Exercise With Scientific Exercise Approach to Scoliosis in Idiopathic Scoliosis Completed NCT02978820 Not Applicable
34 Effect of Compliance Counseling on Brace Success in Patients With Idiopathic Scoliosis Completed NCT02412137 Early Phase 1
35 Pilot Study of Functional and Morphometric Brain Abnormalities Related to Adolescent Idiopathic Scoliosis (MOR-FO-SIA) Completed NCT02302534 Not Applicable
36 Gait and Postural Stability Assessment in Children With Idiopathic Scoliosis Undergoing Posterior Spine Instrumentation Completed NCT01109082
37 An Aerobic Exercising Program on Respiratory Muscle Strength in Patients With Adolescent Idiopathic Scoliosis Completed NCT00886652 Not Applicable
38 Spinal Stabilization Exercises for Low Back Pain in Adolescents With Idiopathic Scoliosis Completed NCT01550497 Not Applicable
39 Ghrelin Resistance in Adolescents With Idiopathic Scoliosis Completed NCT02829476 Not Applicable
40 Effectiveness of Exercises in Adolescent Idiopathic Scoliosis Completed NCT02552615 Not Applicable
41 Evaluate Initial Safety of the HemiBridge™ System in Guided Spinal Growth Treatment of Progressive Idiopathic Scoliosis Completed NCT01465295 Not Applicable
42 Scoliosis Surgery Using the PASS® LP System Completed NCT01019109
43 Anesthetic Optimization in Scoliosis Surgery Completed NCT02481570 Not Applicable
44 Short-term Effects of the Simultaneous Use of Two Physiotherapeutic Methods in the Treatment of Adolescent Idiopathic Scoliosis - Pilot Study Completed NCT01250860 Not Applicable
45 Feasibility Evaluation Study of the MID-C Device Completed NCT03071471
46 Feasibility Study of MID-C for AIS Completed NCT03071445
47 A New 3D Geometrical Modelisation of Adolescent Idiopathic Scoliosis and Conception of a Personal Brace Completed NCT01336114
48 Impact of Aerobic Training and Combined in Inflammatory Markers in Patients With Adolescent Idiopathic Scoliosis Completed NCT02413788 Not Applicable
49 Long-Term Outcome Following the Treatment of Pediatric Scoliosis Completed NCT01760434 Not Applicable
50 Adolescent Idiopathic Scoliosis (AIS) Patient Positioning in EOS System® Completed NCT02269657

Search NIH Clinical Center for Idiopathic Scoliosis

Genetic Tests for Idiopathic Scoliosis

Anatomical Context for Idiopathic Scoliosis

MalaCards organs/tissues related to Idiopathic Scoliosis:

41
Bone, Lung, Skeletal Muscle, Brain, Testes, Breast

Publications for Idiopathic Scoliosis

Articles related to Idiopathic Scoliosis:

(show top 50) (show all 393)
# Title Authors Year
1
The effect of upper instrumented vertebra level on cervical sagittal alignment in Lenke 1 adolescent idiopathic scoliosis. ( 29933123 )
2018
2
Vertebral Axial Asymmetry in Adolescent Idiopathic Scoliosis. ( 29413732 )
2018
3
A National Analysis on Predictors of Discharge to Rehabilitation after Corrective Surgery for Adolescent Idiopathic Scoliosis. ( 29933335 )
2018
4
Dynamic ensemble selection of learner-descriptor classifiers to assess curve types in adolescent idiopathic scoliosis. ( 29949021 )
2018
5
Radiographic Methods to Estimate Surgical Outcomes based on Spinal Flexibility Assessment in Patients who have Adolescent Idiopathic Scoliosis: A Systematic Review. ( 29959103 )
2018
6
Curve Progression in Adolescent Idiopathic Scoliosis Does Not Match Skeletal Growth. ( 29389797 )
2018
7
Accuracy of thoracic pedicle screw placement using freehand technique and triggered EMG in adolescent idiopathic scoliosis: Is it different between concave and convex side? ( 29954289 )
2018
8
Circulating miRNAs as diagnostic biomarkers for adolescent idiopathic scoliosis. ( 29422531 )
2018
9
Association of vitamin D receptor BsmI rs1544410 and ApaI rs7975232 polymorphisms with susceptibility to adolescent idiopathic scoliosis: A systematic review and meta-analysis. ( 29480871 )
2018
10
2016 SOSORT guidelines: orthopaedic and rehabilitation treatment of idiopathic scoliosis during growth. ( 29435499 )
2018
11
Fulcrum flexibility of the main curve predicts postoperative shoulder imbalance in selective thoracic fusion of adolescent idiopathic scoliosis. ( 29931567 )
2018
12
Prevalence and impact of low body mass index on outcomes in patients with adolescent idiopathic scoliosis: a systematic review. ( 29434317 )
2018
13
Rasterstereography versus radiography for assessing shoulder balance in idiopathic scoliosis: A validation study relative to patients' self-image. ( 29945339 )
2018
14
Left Ventricular Mechanics Assessed by 2-dimensional Speckle Tracking Echocardiography in Children and Adolescents with Idiopathic Scoliosis: Errata. ( 29952877 )
2018
15
Idiopathic Scoliosis Families Highlight Actin-Based and Microtubule-Based Cellular Projections and Extracellular Matrix in Disease Etiology. ( 29930198 )
2018
16
Dose, image quality and spine modeling assessment of biplanar EOS micro-dose radiographs for the follow-up of in-brace adolescent idiopathic scoliosis patients. ( 29340779 )
2018
17
Surgical treatment for severe and rigid scoliosis: a case-matched study between idiopathic scoliosis and syringomyelia-associated scoliosis. ( 29800706 )
2018
18
Conservative management strategies and stress level in children and adolescents with idiopathic scoliosis. ( 29975372 )
2018
19
Ethnic Variation in Satisfaction and Appearance Concerns in Adolescents With Idiopathic Scoliosis Undergoing Posterior Spinal Fusion With Instrumentation. ( 29413737 )
2018
20
Shoulder Complex Mechanics in Adolescent Idiopathic Scoliosis and Their Relation to Patient-perceived Function. ( 29975295 )
2018
21
Proximal junctional kyphosis following correction surgery in the Lenke 5 adolescent idiopathic scoliosis patient. ( 29960823 )
2018
22
Validation Study of the Thumb Ossification Composite Index (TOCI) in Idiopathic Scoliosis: A Stage-to-Stage Correlation with Classic Tanner-Whitehouse and Sanders Simplified Skeletal Maturity Systems. ( 29975274 )
2018
23
Sagittal plane assessment of spino-pelvic complex in a Central European population with adolescent idiopathic scoliosis: a case control study. ( 29942864 )
2018
24
Who Needs a Pediatric Intensive Care Unit After Posterior Spinal Fusion for Adolescent Idiopathic Scoliosis? ( 29413735 )
2018
25
Patterns of coronal curve changes in forward bending posture: a 3D ultrasound study of adolescent idiopathic scoliosis patients. ( 29943198 )
2018
26
Proximal junctional kyphosis in thoracic adolescent idiopathic scoliosis: risk factors and compensatory mechanisms in a multicenter national cohort. ( 29959554 )
2018
27
Criteria for Ending the Distal Fusion at the L3 Vertebra vs. L4 in Surgical Treatment of Adolescent Idiopathic Scoliosis Patients with Lenke Type 3C, 5C, and 6C Curves: Results After Ten Years of Follow-up. ( 29974019 )
2018
28
Supplementary Addendum to &amp;quot;Radiation dose of digital radiography (DR) versus micro-dose x-ray (EOS) on patients with adolescent idiopathic scoliosis: 2016 SOSORT- IRSSD &amp;quot;John Sevastic Award&amp;quot; Winner in Imaging Research&amp;quot;. ( 29435497 )
2018
29
Analysis of sensory system aspects of postural stability during quiet standing in adolescent idiopathic scoliosis patients. ( 29929530 )
2018
30
Bone Mineral Density After Spinal Fusion Surgery for Adolescent Idiopathic Scoliosis at a Minimum 20-Year Follow-up. ( 29413740 )
2018
31
Blood Loss Trends and Financial Implications in Adolescent Idiopathic Scoliosis. ( 29979217 )
2018
32
CORR InsightsAr: Curve Progression in Adolescent Idiopathic Scoliosis Does Not Match Skeletal Growth. ( 29389798 )
2018
33
Variation in Adolescent Idiopathic Scoliosis Surgery: Implications for Improving Healthcare Value. ( 29426688 )
2018
34
Additional Risk Factors for Adding-On After Selective Thoracic Fusion in Adolescent Idiopathic Scoliosis: Implication of Lowest Instrumented Vertebra Angle and Lumbosacral Takeoff. ( 29413739 )
2018
35
Evidence-Based Thresholds for the Volume-Value Relationship in Adolescent Idiopathic Scoliosis: Outcomes and Economies of Scale. ( 29413738 )
2018
36
Uniplanar Versus Fixed Pedicle Screws in the Correction of Thoracic Kyphosis in the Treatment of Adolescent Idiopathic Scoliosis (AIS). ( 28060179 )
2017
37
Preventing Fusion Mass Shift Avoids Postoperative Distal Curve Adding-on in Adolescent Idiopathic Scoliosis. ( 28050819 )
2017
38
Asymmetry of the Vertebral Body and Pedicles in the True Transverse Plane in Adolescent Idiopathic Scoliosis: A CT-Based Study. ( 28038692 )
2017
39
Predictors for Postoperative Shoulder Balance in Lenke 1 Adolescent Idiopathic Scoliosis: A Prospective Cohort Study. ( 28038696 )
2017
40
Motivations for Compliance With Bracing in Adolescent Idiopathic Scoliosis. ( 28038693 )
2017
41
Lack of association between AKAP2 and the susceptibility of adolescent idiopathic scoliosis in the Chinese population. ( 28838314 )
2017
42
Spine Growth Modulation in Early Adolescent Idiopathic Scoliosis: Two-Year Results of Prospective US FDA IDE Pilot Clinical Safety Study of Titanium Clip-Screw Implant. ( 28882349 )
2017
43
Mutation of the Planar Cell Polarity Gene VANGL1 in Adolescent Idiopathic Scoliosis. ( 27755493 )
2017
44
Posture Alignment of Adolescent Idiopathic Scoliosis: Photogrammetry in Scoliosis School Screening. ( 28822476 )
2017
45
A Replication Study for the Association of rs11190870 With Curve Severity in Adolescent Idiopathic Scoliosis in Japanese. ( 28902104 )
2017
46
Scapular kinematics in adolescent idiopathic scoliosis: A three-dimensional motion analysis during multiplanar humeral elevation. ( 28823466 )
2017
47
Etiological Theories of Adolescent Idiopathic Scoliosis: Past and Present. ( 29399224 )
2017
48
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
49
An immediate effect of PNF specific mobilization on the angle of trunk rotation and the Trunk-Pelvis-Hip Angle range of motion in adolescent girls with double idiopathic scoliosis-a pilot study. ( 28905003 )
2017
50
Genome-wide association study identifies novel susceptible loci and highlights Wnt/beta-catenin pathway in the development of adolescent idiopathic scoliosis. ( 28334814 )
2017

Variations for Idiopathic Scoliosis

ClinVar genetic disease variations for Idiopathic Scoliosis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CELSR2 NM_001408.2(CELSR2): c.6859G> A (p.Val2287Ile) single nucleotide variant Uncertain significance rs141489111 GRCh37 Chromosome 1, 109812092: 109812092
2 CELSR2 NM_001408.2(CELSR2): c.6859G> A (p.Val2287Ile) single nucleotide variant Uncertain significance rs141489111 GRCh38 Chromosome 1, 109269470: 109269470

Expression for Idiopathic Scoliosis

Search GEO for disease gene expression data for Idiopathic Scoliosis.

Pathways for Idiopathic Scoliosis

GO Terms for Idiopathic Scoliosis

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

# Name GO ID Score Top Affiliating Genes
1 intracellular estrogen receptor signaling pathway GO:0030520 9.26 ESR1 ESR2
2 extracellular matrix organization GO:0030198 9.26 ACAN COL1A2 FBN1 MATN1
3 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.16 CALM1 CHD7
4 skeletal system development GO:0001501 8.92 ACAN CHD7 COL1A2 FBN1

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

# Name GO ID Score Top Affiliating Genes
1 estrogen receptor activity GO:0030284 9.32 ESR1 ESR2
2 melatonin receptor activity GO:0008502 9.26 MTNR1A MTNR1B
3 estrogen response element binding GO:0034056 9.16 ESR1 ESR2
4 RNA polymerase II transcription factor activity, estrogen-activated sequence-specific DNA binding GO:0038052 8.96 ESR1 ESR2
5 extracellular matrix structural constituent GO:0005201 8.92 ACAN COL1A2 FBN1 MATN1

Sources for Idiopathic Scoliosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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