Scoliosis, Isolated 1 (IS1)

Categories: Bone diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Scoliosis, Isolated 1

MalaCards integrated aliases for Scoliosis, Isolated 1:

Name: Scoliosis, Isolated 1 56
Adolescent Idiopathic Scoliosis 56 52 25 13 17
Scoliosis, Isolated, Susceptibility to, 1 56 6
Idiopathic Adolescent Scoliosis 74 52
Ais 56 25
Adolescent Isolated Scoliosis; Ais 56
Late Onset Idiopathic Scoliosis 25
Adolescent Isolated Scoliosis 56
Scoliosis, Idiopathic 1 56
Is1 56



autosomal dominant vs. multifactorial


scoliosis, isolated 1:
Inheritance autosomal dominant inheritance


External Ids:

OMIM 56 181800
MedGen 41 C2700406
SNOMED-CT via HPO 68 111266001 263681008 64217002

Summaries for Scoliosis, Isolated 1

Genetics Home Reference : 25 Adolescent idiopathic scoliosis is an abnormal curvature of the spine that appears in late childhood or adolescence. Instead of growing straight, the spine develops a side-to-side curvature, usually in an elongated "S" or "C" shape; the bones of the spine are also slightly twisted or rotated. Adolescent idiopathic scoliosis appears during the adolescent growth spurt, a time when children are growing rapidly. In many cases the abnormal spinal curve is stable, although in some children the curve is progressive (meaning it becomes more severe over time). For unknown reasons, severe and progressive curves occur more frequently in girls than in boys. However, mild spinal curvature is equally common in girls and boys. Mild scoliosis generally does not cause pain, problems with movement, or difficulty breathing. It may only be diagnosed if it is noticed during a regular physical examination or a scoliosis screening at school. The most common signs of the condition include a tilt or unevenness (asymmetry) in the shoulders, hips, or waist, or having one leg that appears longer than the other. A small percentage of affected children develop more severe, pronounced spinal curvature. Scoliosis can occur as a feature of other conditions, including a variety of genetic syndromes. However, adolescent idiopathic scoliosis typically occurs by itself, without signs and symptoms affecting other parts of the body.

MalaCards based summary : Scoliosis, Isolated 1, also known as adolescent idiopathic scoliosis, is related to scoliosis and androgen insensitivity syndrome. An important gene associated with Scoliosis, Isolated 1 is MAPK7 (Mitogen-Activated Protein Kinase 7). The drugs Thrombin and Morphine have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and spinal cord, and related phenotype is scoliosis.

NIH Rare Diseases : 52 Adolescent idiopathic scoliosis is an abnormal curvature of the spine that appears in late childhood or adolescence. Instead of growing straight, the spine develops a side-to-side curvature, usually in an elongated "s" or "C" shape, and the bones of the spine become slightly twisted or rotated. In many cases, the abnormal spinal curve is stable; however, in some children, the curve becomes more severe over time (progressive). For unknown reasons, severe and progressive curves occur more frequently in girls than in boys. The cause of adolescent idiopathic scoliosis is unknown. It is likely that there are both genetic and environmental factors involved. Treatment may include observation, bracing and/or surgery.

OMIM : 56 Idiopathic scoliosis is a structurally fixed lateral curvature of the spine with a rotatory component. There is at least a 10 degree curvature as demonstrated by upright spine roentgenograms by the Cobb method (Weinstein, 1994). Scoliosis may occur secondary to other hereditary disorders including Marfan syndrome (154700), dysautonomia (223900), neurofibromatosis (see 162200), Friedreich ataxia (see 229300), and muscular dystrophies. (181800)

Wikipedia : 74 Scoliosis is a medical condition in which a person's spine has a sideways curve. The curve is usually... more...

Related Diseases for Scoliosis, Isolated 1

Diseases in the Scoliosis, Isolated 1 family:

Scoliosis, Isolated 2 Scoliosis, Isolated 3
Scoliosis, Isolated 4 Scoliosis, Isolated 5

Diseases related to Scoliosis, Isolated 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 460)
# Related Disease Score Top Affiliating Genes
1 scoliosis 31.0 MAPK7 IS1
2 androgen insensitivity syndrome 12.3
3 aland island eye disease 12.3
4 amelogenesis imperfecta 12.1
5 autoimmune inner ear disease 12.0
6 amelogenesis imperfecta, type ib 11.6
7 hereditary amyloidosis 11.5
8 hidradenitis suppurativa 11.5
9 aortic valve insufficiency 11.5
10 x-linked cerebral adrenoleukodystrophy 11.4
11 idiopathic scoliosis 11.4
12 pediatric arterial ischemic stroke 11.3
13 jalili syndrome 11.3
14 scoliosis, isolated 3 11.3
15 scoliosis, isolated 4 11.3
16 scoliosis, isolated 5 11.3
17 salt and pepper developmental regression syndrome 11.2
18 amelogenesis imperfecta, type ie 11.1
19 amelogenesis imperfecta, type ij 11.1
20 coronary heart disease 1 10.5
21 bone mineral density quantitative trait locus 3 10.5
22 helix syndrome 10.4
23 atherosclerosis susceptibility 10.4
24 huntington disease-like 3 10.4
25 amyloidosis 10.4
26 chiari malformation 10.4
27 pain agnosia 10.4
28 huntington disease-like 2 10.4
29 lipoprotein quantitative trait locus 10.4
30 adenocarcinoma in situ 10.4
31 hyperlipoproteinemia, type iii 10.3
32 degenerative disc disease 10.3
33 virus-associated trichodysplasia spinulosa 10.3
34 arteries, anomalies of 10.3
35 avian influenza 10.3
36 hypertriglyceridemia, familial 10.3
37 covid-19 10.3
38 spinal cord injury 10.2
39 hand skill, relative 10.2
40 marfan syndrome 10.2
41 rickets 10.2
42 ileus 10.2
43 hypercholesterolemia, familial, 1 10.2
44 microvascular complications of diabetes 5 10.2
45 endocervical adenocarcinoma 10.2
46 proline-negative auxotroph of hamster, complementation of 10.2
47 myoclonic epilepsy, familial infantile 10.2
48 allergic hypersensitivity disease 10.2
49 cystitis 10.2
50 gastroenteritis 10.2

Graphical network of the top 20 diseases related to Scoliosis, Isolated 1:

Diseases related to Scoliosis, Isolated 1

Symptoms & Phenotypes for Scoliosis, Isolated 1

Human phenotypes related to Scoliosis, Isolated 1:

# Description HPO Frequency HPO Source Accession
1 scoliosis 31 HP:0002650

Symptoms via clinical synopsis from OMIM:


Clinical features from OMIM:


Drugs & Therapeutics for Scoliosis, Isolated 1

Drugs for Scoliosis, Isolated 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 73)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Thrombin Approved, Investigational Phase 4
Morphine Approved, Investigational Phase 4 57-27-2 5288826
Tranexamic Acid Approved Phase 4 1197-18-8 5526
Aminocaproic acid Approved, Investigational Phase 4 60-32-2 564
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
Pregabalin Approved, Investigational Phase 4 148553-50-8 5486971
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
9 Hemostatics Phase 4
10 Coagulants Phase 4
11 Antifibrinolytic Agents Phase 4
12 Hormones Phase 4
13 Calcium, Dietary Phase 4
14 Analgesics, Opioid Phase 4
15 Sodium Channel Blockers Phase 4
16 Pharmaceutical Solutions Phase 4
17 Anti-Arrhythmia Agents Phase 4
18 Anesthetics, Local Phase 4
19 Diuretics, Potassium Sparing Phase 4
20 Narcotics Phase 4
21 Anti-Anxiety Agents Phase 4
22 Psychotropic Drugs Phase 4
23 Anticonvulsants Phase 4
24 calcium channel blockers Phase 4
25 abobotulinumtoxinA Phase 4
26 Cholinergic Agents Phase 4
27 Botulinum Toxins Phase 4
28 Botulinum Toxins, Type A Phase 4
29 Neurotransmitter Agents Phase 4
Calcium Nutraceutical Phase 4 7440-70-2 271
Calcium carbonate Approved, Investigational Phase 3 471-34-1
32 Gastrointestinal Agents Phase 3
33 Antacids Phase 3
34 Anti-Ulcer Agents Phase 3
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
Alfacalcidol Approved, Nutraceutical Phase 2 41294-56-8 5282181
37 Anesthetics, General Phase 1, Phase 2
38 Vitamins Phase 2
39 Micronutrients Phase 2
40 Trace Elements Phase 2
41 Nutrients Phase 2
42 Calciferol Phase 2
43 Hydroxycholecalciferols Phase 2
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943
Ibuprofen Approved 15687-27-1 3672
Gabapentin Approved, Investigational 60142-96-3 3446
Methylcobalamin Approved, Investigational 13422-55-4
leucovorin Approved 58-05-9 6006 143
Hydroxocobalamin Approved 13422-51-0 15589840 11953898
Iron Approved, Experimental 15438-31-0, 7439-89-6 27284 23925

Interventional clinical trials:

(show top 50) (show all 125)
# Name Status NCT ID Phase Drugs
1 Effectiveness Of Gelatin Matrix With Human Derived Thrombin On Blood Loss, Surgical Time, Hospital Stay And Complications In Adolescents Undergoing Spine Surgery For Adolescent Idiopathic Scoliosis: A Randomized Clinical Trial. Unknown status NCT01451788 Phase 4
2 Surgical Outcomes Using Variable Rod Diameters in the Treatment of Idiopathic Scoliosis Completed NCT00510575 Phase 4
3 The Effects of Fibrinogen Concentrate Infusion on Perioperative Blood Loss and Allogeneic Blood Conservation in Patients Undergoing Scoliosis Surgery Completed NCT03183479 Phase 4 Fibrinogen Concentrate Human;Normal saline
4 Patient-controlled 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
5 A Prospective, Randomized, Double-blinded Single-site Control Study Comparing Blood Loss Prevention of Tranexamic Acid (TXA) to Epsilon Aminocaproic Acid (EACA) for Corrective Spinal Surgery Completed NCT00958581 Phase 4 Tranexamic Acid;Normal Saline;Epsilon aminocaproic acid
6 Intravenous Lidocaine to Reduce Postoperative Opioid Consumption and Improve Recovery After Posterior Spinal Fusion for Adolescent Idiopathic Scoliosis Recruiting NCT03893318 Phase 4 IV lidocaine;Placebos
7 Effect of Pregabalin on Immediate Post-operative and Longterm Pain and Spinal Cord Monitoring in Children Undergoing Instrumented Spinal Surgery. Recruiting NCT02464813 Phase 4 Pregabalin;Sugar pill;Oxycodone
8 Dysport ® (abobotulinumtoxinA) as an Adjunctive Treatment to Bracing in the Management of Adolescent Idiopathic Scoliosis Not yet recruiting NCT03935295 Phase 4 AbobotulinumtoxinA;Placebos
9 A Multi-Centre Randomized Phase IV Clinical Trial Comparing Rods of Varying Yield Strengths and Their Ability to Hold Correction of Adolescent Idiopathic Scoliosis. Withdrawn NCT00768313 Phase 4
10 Can Calcium and Vitamin D Supplementation Improve Bone Mineral Density and Curve Progression in Girls With Adolescent Idiopathic Scoliosis? Completed NCT01103115 Phase 3
11 Improving Low Bone Mass With Vibration Therapy for Girls With Adolescent Idiopathic Scoliosis (AIS) - A Randomized Controlled Trial Completed NCT01108211 Phase 3
12 Comparing the Moss Miami and Universal Spinal Instrumentation Systems for the Treatment of Adolescent Idiopathic Scoliosis Completed NCT00273598 Phase 2
13 The Efficacy of Intravenous Tranexamic Acid in Decreasing Blood Loss in Pediatric Idiopathic Scoliosis Surgery? Completed NCT01813058 Phase 1, Phase 2 Tranexamic Acid;Placebo
14 The Role of VitD in Rehabilitation of Idiopathic Adolescent Scoliosis Recruiting NCT03582917 Phase 2 Alphacalcidol
15 An Innovative Body-Mapping Tank Top Equipped With Biofeedback System for Adolescents With Early Scoliosis Completed NCT02471508 Phase 1
16 Treatment of Adolescent Idiopathic Scoliosis Patients Using the Ellipse MAGEC System Unknown status NCT01633931
17 Impact of Age on Surgical Outcome of Adolescent Idiopathic Scoliosis Unknown status NCT02819245
18 A Randomized Controlled Trial: Comparison of a Top Loading MESA® Spinal System With MESA Rail™ and a Side Locking Pedicle Screw System for the Treatment of Adolescent Paediatric Spine Deformity Unknown status NCT02590380
19 Effect of the Severity and the Treatment (Orthosis Versus Surgery)of the Idiopathic Scoliosis on the Locomotor Mechanism of the Gait. Unknown status NCT00842218
20 Application Research of Physiotherapeutic Scoliosis Specific Exercises in Adolescent Idiopathic Scoliosis Unknown status NCT02968043
21 A New Spinal Brace Design Concept for the Treatment of Adolescent Idiopathic Scoliosis Unknown status NCT03365804
22 Scoliosis-Specific Exercises for At-Risk Mild Adolescent Idiopathic Scoliosis Curves: A Multi-Site Preliminary Randomized Trial Unknown status NCT02807545
23 Evaluation of an Anesthetic Optimization Technique in Adolescent Idiopathic Scoliosis Surgery Completed NCT02481570
24 Motion Preservation Evaluation Below Fusions of the Spine in Adolescent Idiopathic Scoliosis Completed NCT01661998
25 The Effect of Core Stabilization Training on Respiratory Parameters, Peripheral Muscle Strength, Balance, Functional Capacity and Quality of Life in Children With Adolescent Idiopathic Scoliosis Completed NCT03823053
26 A New 3D Geometrical Modelisation of Adolescent Idiopathic Scoliosis and Conception of a Personal Brace Completed NCT01336114
27 Effect of Conservative Treatment on Pulmonary Functions, Gait Oxygen Consumption Balance and Lower Limb Load Distribution in Adolescents With Idiopathic Scoliosis Completed NCT03514082
28 Single-blind Comprehensive Cohort Study Incorporating a Randomized Controlled Design on Bracing in AIS: A Feasibility Study Completed NCT00989495
29 Prospective Study: Long-Term Pulmonary Function, Health-Related Quality of Life, and Sagittal Plane Alignment Following the Treatment of Pediatric Scoliosis Completed NCT01760434
30 Short-term Effects of the Simultaneous Use of Two Physiotherapeutic Methods in the Treatment of Adolescent Idiopathic Scoliosis - Pilot Study Completed NCT01250860
31 Functional Testing, and Biomechanics Before and After Scoliosis Surgery Completed NCT02237248
32 Effects of Home Exercise Intervention on Bone Density, Muscle Functions, Quality of Life, and Curve Progression in Girls With Adolescent Idiopathic Scoliosis Completed NCT03157570
33 Evaluation of Adam's Forward Bend Test and Smartphone Application in Screening of Adolescent Idiopathic Scoliosis Completed NCT04092335
34 Impact of Aerobic Training and Combined in Inflammatory Markers in Patients With Adolescent Idiopathic Scoliosis Completed NCT02413788
35 Pilot Study of Functional and Morphometric Brain Abnormalities Related to Adolescent Idiopathic Scoliosis (MOR-FO-SIA) Completed NCT02302534
36 Impact of Metal Density on Deformity Correction in Posterior Fusions for Adolescent Idiopathic Scoliosis Completed NCT04175145
37 Results of an Aerobic Exercising Program on Respiratory Muscle Strength in Patients With Adolescent Idiopathic Scoliosis: a Randomized, Controlled Trial Completed NCT00886652
38 The Effect of the Inspiratory Muscle Training on Respiratory Muscle Strength, Respiratory Function and Functional Capacity in Adolescents With Idiopathic Scoliosis Completed NCT03391895
39 Comparison of Dynamic Radiographs in Determining Fusion Level in Adolescent Idiopathic Scoliosis Correction Completed NCT03296228
40 Ghrelin Cellular Resistance Study in Adolescents With Idiopathic Scoliosis Completed NCT02829476
41 Effect of Physiotherapeutic Scoliosis-Specific Exercises on Spine Joint Reposition Sensation in Adolescent Idiopathic Scoliosis Completed NCT04215497
42 Assessment of Serum Vitamin D Levels in Surgical Adolescent Idiopathic Scoliosis Patients Completed NCT03820895
43 Core Stabilization Exercise Versus Scientific Exercises Approach to Scoliosis in the Treatment of Adolescent Idiopathic Scoliosis: A Randomized Single Blind Trial Completed NCT02978820
44 Ergonomic Brace Wear for Adolescent Idiopathic Scoliosis Completed NCT03617120
45 Pedicle Screw Usage in Conventional Fixation Pattern Constructs Compared to Thoracic Hook Constructs in Adolescent Idiopathic Scoliosis Patients and Neuromuscular Ambulators Completed NCT01581021
46 Lung Regeneration After Posterior Spinal Fusion for Adolescent Idiopathic Scoliosis Completed NCT03539770
47 Screening and Prevalence of Adolescent Idiopathic Scoliosis in Selected Urban and Countryside Schools in Egypt Completed NCT03894865
48 The Effectiveness of Two Different Exercises in Adolescent Idiopathic Scoliosis: A Single-blind Study Completed NCT04421157
49 Genetic Evaluation for the Scoliosis Gene(s) in Patients With Neurofibromatosis 1 and Scoliosis Completed NCT01776125
50 Determine the Optimum Applied Pressure for the Brace Treatment of Scoliosis Completed NCT02996643 Early Phase 1

Search NIH Clinical Center for Scoliosis, Isolated 1

Genetic Tests for Scoliosis, Isolated 1

Anatomical Context for Scoliosis, Isolated 1

MalaCards organs/tissues related to Scoliosis, Isolated 1:

Bone, Testes, Spinal Cord, Lung, Brain, Breast, Bone Marrow

Publications for Scoliosis, Isolated 1

Articles related to Scoliosis, Isolated 1:

(show top 50) (show all 4083)
# Title Authors PMID Year
A Functional SNP in BNC2 Is Associated with Adolescent Idiopathic Scoliosis. 56 61
26211971 2015
Polygenic inheritance of adolescent idiopathic scoliosis: a study of extended families in Utah. 56 61
20425822 2010
A genetic locus for adolescent idiopathic scoliosis linked to chromosome 19p13.3. 61 56
12094330 2002
Evaluation of the adolescent or adult with some features of Marfan syndrome. 6
22237449 2012
Identification of susceptibility loci for scoliosis in FIS families with triple curves. 56
20358593 2010
Segregation analysis of idiopathic scoliosis: demonstration of a major gene effect. 56
10494097 1999
Idiopathic scoliosis in twins studied by DNA fingerprinting: the incidence and type of scoliosis. 56
9546446 1998
Autosomal dominant idiopathic scoliosis? 56
7702081 1995
Genetic aspects of early childhood scoliosis. 56
3300334 1987
Scoliosis in chickens: responsiveness of severity and incidence to dietary copper. 56
6740317 1984
Collagen defect in idiopathic scoliosis. 56
78312 1978
Genetic aspects of idiopathic scoliosis. A Nicholas Andry Award essay, 1970. 56
5047777 1972
Familial (idiopathic) scoliosis. A family survey. 56
5641594 1968
Idiopathic scoliosis: genetic and environmental aspects. 56
6082901 1967
[Medical aspects of essential structural scoliosis in children]. 56
13947961 1963
20778092 1934
Feasibility of Proxy-Reported EQ-5D-3L-Y and Its Agreement in Self-reported EQ-5D-3L-Y for Patients With Adolescent Idiopathic Scoliosis. 61
32539293 2020
Changes in Cervical Spinal Alignment After Thoracolumbar Corrective Surgery in Adult Patients With Adolescent Idiopathic Scoliosis. 61
32539290 2020
Correction to: Is Cutibacterium acnes early surgical site infection rate related to the duration of antibiotic prophylaxis in adolescent idiopathic scoliosis surgery? 61
32562078 2020
Associations between three-dimensional measurements of the spinal deformity and preoperative SRS-22 scores in patients undergoing surgery for major thoracic adolescent idiopathic scoliosis. 61
32488765 2020
Is it feasible to implement a rapid recovery pathway for adolescent idiopathic scoliosis patients undergoing posterior spinal instrumentation and fusion in a single-payer universal health care system? 61
32488767 2020
Willingness to enroll in a surgical randomized controlled trial: patient and parent preferences regarding implant density for adolescent idiopathic scoliosis fusion. 61
32495208 2020
SCO-Spondin Defects and Neuroinflammation Are Conserved Mechanisms Driving Spinal Deformity across Genetic Models of Idiopathic Scoliosis. 61
32386528 2020
Quality improvement in post-operative opioid and benzodiazepine regimen in adolescent patients after posterior spinal fusion. 61
31925760 2020
Understanding breast asymmetry and its relation to AIS. 61
32065382 2020
The variability in the management of acute surgical site infections: an opportunity for the development of a best practice guideline. 61
32077083 2020
A novel scoliosis instrumentation using special superelastic nickel-titanium shape memory rods: a biomechanical analysis using a calibrated computer model and data from a clinical trial. 61
32096138 2020
More severe thoracic idiopathic scoliosis is associated with a greater three-dimensional loss of thoracic kyphosis. 61
32488764 2020
Selection of Distal Fusion Level for Lenke 5 Curve: Does the Rotation of the Presumed Lower Instrumented Vertebra Matter? 61
31923131 2020
Asymmetric Expression of Wnt/B-catenin Pathway in AIS: Primary or Secondary to the Curve? 61
32044811 2020
Back pain in adolescents with idiopathic scoliosis: the contribution of morphological and psychological factors. 61
32519028 2020
Exome sequencing analysis identifies frequent oligogenic involvement and FLNB variants in adolescent idiopathic scoliosis. 61
32381728 2020
What Constitutes Shoulder Imbalance in Adolescent Idiopathic Scoliosis? Aesthetic Threshold for Surgical Correction. 61
32234356 2020
Altered physiology of mesenchymal stem cells in the pathogenesis of adolescent idiopathic scoliosis. 61
32548139 2020
Upregulation of cGMP-dependent Protein Kinase (PRKG1) in the Development of Adolescent Idiopathic Scoliosis. 61
32558266 2020
Operative time in adolescent idiopathic scoliosis surgery: a need for a standard definition. 61
32558776 2020
Correction to: Opioid prescribing practices after posterior spinal arthrodesis for adolescent idiopathic scoliosis. 61
32533546 2020
Current concepts in the diagnosis and management of adolescent idiopathic scoliosis. 61
32314025 2020
Severe persistent coronal imbalance following instrumented posterior spinal fusion for adolescent idiopathic scoliosis. 61
32500442 2020
Predictors of cost for posterior spinal fusion in adolescent idiopathic scoliosis. 61
32096128 2020
Severe adolescent idiopathic scoliosis: posterior staged correction using a temporary magnetically-controlled growing rod. 61
32506163 2020
Prevalence of adolescent idiopathic scoliosis in Turkey: an epidemiological study. 61
31972303 2020
Does bracing for adolescent idiopathic scoliosis affect operative results? 61
32291582 2020
Towards a new 3D classification for adolescent idiopathic scoliosis. 61
32026444 2020
Characterization of progressive changes in pedicle morphometry and neurovascular anatomy during growth in adolescent idiopathic scoliosis versus adolescents without scoliosis. 61
32557264 2020
Reliability Comparison between "Distal Radius and Ulna" and "Simplified Tanner-Whitehouse III" Assessments for Patients with Adolescent Idiopathic Scoliosis. 61
31992028 2020
Outcomes of pregnancy in operative vs. nonoperative adolescent idiopathic scoliosis patients at mean 30-year follow-up. 61
32578160 2020
Comparison of surgical correction rates between titanium and cobalt-chrome-alloy as rod materials in adolescent idiopathic scoliosis. 61
32572073 2020
Is daily walking distance affected in adolescent idiopathic scoliosis? An original prospective study using the pedometer on smartphones. 61
32563619 2020
Morphological Differences between the Pedicles in Nondystrophic Scoliosis Secondary to Neurofibromatosis Type 1 and Those in Adolescent Idiopathic Scoliosis. 61
32540291 2020

Variations for Scoliosis, Isolated 1

ClinVar genetic disease variations for Scoliosis, Isolated 1:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MAPK7 NM_002749.4(MAPK7):c.886G>A (p.Ala296Thr)SNV Pathogenic 427639 rs147296805 17:19284408-19284408 17:19381095-19381095
2 MAPK7 NM_002749.4(MAPK7):c.1760C>T (p.Pro587Leu)SNV Pathogenic 427640 rs758163506 17:19285376-19285376 17:19382063-19382063
3 MAPK7 NM_002749.4(MAPK7):c.1943C>T (p.Pro648Leu)SNV Pathogenic 427641 rs1555613564 17:19285559-19285559 17:19382246-19382246

Expression for Scoliosis, Isolated 1

Search GEO for disease gene expression data for Scoliosis, Isolated 1.

Pathways for Scoliosis, Isolated 1

GO Terms for Scoliosis, Isolated 1

Sources for Scoliosis, Isolated 1

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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