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MCID: TTH004
MIFTS: 35

Tethered Spinal Cord Syndrome

Categories: Fetal diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Drugs
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Aliases & Classifications for Tethered Spinal Cord Syndrome

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MalaCards integrated aliases for Tethered Spinal Cord Syndrome:

Name: Tethered Spinal Cord Syndrome 12 52 53 15 17
Occult Spinal Dysraphism Sequence 52
Segmental Vertebral Anomalies 52
Tethered Spinal Cord Disease 74
Occult Spinal Dysraphism 52
Tethered Cord Syndrome 52
Spinal Dysraphism 12
Tethered Cord 6

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Neuronal diseases Skin diseases Nephrological diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:1089
SNOMED-CT 67 768939009
UMLS 71 C0560648
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Summaries for Tethered Spinal Cord Syndrome

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NINDS : 53 Tethered spinal cord syndrome is a neurological disorder caused by tissue attachments that limit the movement of the spinal cord within the spinal column.  Attachments may occur congenitally at the base of the spinal cord (conus medullaris) or they may develop near the site of an injury to the spinal cord.  These attachments cause an abnormal stretching of the spinal cord.  The course of the disorder is progressive.  In children, symptoms may include lesions, hairy patches, dimples, or fatty tumors on the lower back; foot and spinal deformities; weakness in the legs; low back pain; scoliosis; and incontinence.  This type of tethered spinal cord syndrome appears to be the result of improper growth of the neural tube during fetal development, and is closely linked to spina bifida.  Tethered spinal cord syndrome may go undiagnosed until adulthood, when pain, sensory and motor problems, and loss of bowel and bladder control emerge.  This delayed presentation of symptoms is related to the degree of strain placed on the spinal cord over time and may be exacerbated during sports or pregnancy, or may be due to narrowing of the spinal column (stenosis) with age. Tethering may also develop after spinal cord injury and scar tissue can block the flow of fluids around the spinal cord.  Fluid pressure may cause cysts to form in the spinal cord, a condition called syringomyelia.  This can lead to additional loss of movement, feeling or the onset of pain or autonomic symptoms.

MalaCards based summary : Tethered Spinal Cord Syndrome, also known as occult spinal dysraphism sequence, is related to lumbosacral lipoma and mature teratoma. An important gene associated with Tethered Spinal Cord Syndrome is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase). The drugs Drospirenone and Mineralocorticoids have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, skin and bone.

NIH Rare Diseases : 52 Tethered cord syndrome is a rare neurological condition. The severity of the condition and the associated signs and symptoms vary from person to person. In some cases, symptoms may be present at birth (congenital ), while others may not experience symptoms until later in adulthood. Features of the condition may include foot and spinal abnormalities; weakness in the legs; loss of sensation (feeling) in the lower limbs; lower back pain; scoliosis ; and urinary incontinence . Infants and children with congenital tethered cord syndrome may also have tufts of hair, dimples, skin discoloration, or benign fatty tumors on the lower back. Tethered cord syndrome occurs when tissue attachments limit the movement of the spinal cord within the spinal column. In some cases, it may be the result of improper growth of the neural tube during fetal development, which is closely linked to spina bifida . Other potential causes include narrowing of the spinal column (with age), spinal cord injury, tumors, and infection. Treatment varies based on the signs and symptoms present in each person and the severity of the condition but may include surgery and medications to manage pain.

Wikipedia : 74 Tethered cord syndrome (TCS) refers to a group of neurological disorders that relate to malformations of... more...

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Related Diseases for Tethered Spinal Cord Syndrome

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Diseases related to Tethered Spinal Cord Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 265)
# Related Disease Score Top Affiliating Genes
1 lumbosacral lipoma 30.8 RPL34 PES1
2 mature teratoma 30.6 BRAF AFP
3 anus, imperforate 30.3 PES1 MNX1 KIDINS220
4 spina bifida occulta 30.2 VANGL1 PES1 MTHFD1
5 omphalocele 30.2 MTHFD1 MNX1 AFP
6 cauda equina syndrome 30.1 RPL34 CCL16
7 currarino syndrome 30.0 VANGL1 MNX1 KIDINS220
8 spinal cord lipoma 29.9 VANGL1 TCOF1 PES1 COX8C
9 meningocele 29.8 VANGL1 RPL34 MNX1 AFP
10 anencephaly 29.5 VANGL1 MTHFD1 GRHL3 AFP
11 cleft palate, isolated 29.0 TCOF1 PES1 MTHFD1 GRHL3
12 neural tube defects 28.3 VANGL1 RPL34 PES1 NKX2-8 MTHFD1 MNX1
13 structural brain anomalies with impaired intellectual development and craniosynostosis 11.8
14 primary tethered cord syndrome 11.6
15 exstrophy of bladder 11.4
16 medeira-dennis-donnai syndrome 11.4
17 hydrocephalus 10.6
18 hemangioma 10.6
19 chiari malformation 10.6
20 myelocystocele 10.6
21 syringomyelia, noncommunicating isolated 10.5
22 syringomyelia 10.5
23 teratoma 10.5
24 hypertrichosis 10.5
25 cystic teratoma 10.4
26 myelomeningocele 10.4
27 anorectal anomalies 10.4
28 benign teratoma 10.4
29 hydronephrosis 10.4
30 neurenteric cyst 10.4
31 lipomatosis, multiple 10.3
32 pleomorphic lipoma 10.3
33 total spina bifida aperta 10.3 VANGL1 MTHFD1
34 cervicothoracic spina bifida aperta 10.3 VANGL1 MTHFD1
35 cervical spina bifida aperta 10.3 VANGL1 MTHFD1
36 lumbosacral spina bifida aperta 10.3 VANGL1 MTHFD1
37 thoracolumbosacral spina bifida aperta 10.3 VANGL1 MTHFD1
38 vesicoureteral reflux 1 10.3
39 sacral defect with anterior meningocele 10.3
40 upper thoracic spina bifida aperta 10.3 VANGL1 MTHFD1
41 total spina bifida cystica 10.3 VANGL1 MTHFD1
42 thoracolumbosacral spina bifida cystica 10.3 VANGL1 MTHFD1
43 lumbosacral spina bifida cystica 10.3 VANGL1 MTHFD1
44 diastematomyelia 10.3
45 lipomyelomeningocele 10.3
46 cervical spina bifida cystica 10.3 VANGL1 MTHFD1
47 cervicothoracic spina bifida cystica 10.3 VANGL1 MTHFD1
48 sacrococcygeal teratoma 10.3 MNX1 AFP
49 epidermoid cysts 10.3
50 chiari malformation type ii 10.3

Graphical network of the top 20 diseases related to Tethered Spinal Cord Syndrome:



Diseases related to Tethered Spinal Cord Syndrome
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Symptoms & Phenotypes for Tethered Spinal Cord Syndrome

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Drugs & Therapeutics for Tethered Spinal Cord Syndrome

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Drugs for Tethered Spinal Cord Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 43)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Drospirenone Approved Phase 3 67392-87-4 68873
2 Mineralocorticoids Phase 3
3 Drospirenone and ethinyl estradiol combination Phase 3
4 Mineralocorticoid Receptor Antagonists Phase 3
5 diuretics Phase 3
6 Diuretics, Potassium Sparing Phase 3
7 Calcium, Dietary Phase 3
8
Calcium Nutraceutical Phase 3 7440-70-2 271
9
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
10
Mycophenolic acid Approved Phase 2 24280-93-1 446541
11
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
12 Dermatologic Agents Phase 2
13 Immunologic Factors Phase 2
14 Antitubercular Agents Phase 2
15 Immunosuppressive Agents Phase 2
16 Antifungal Agents Phase 2
17 Cyclosporins Phase 2
18 Thymoglobulin Phase 2
19 Antibiotics, Antitubercular Phase 2
20 Antirheumatic Agents Phase 2
21 Calcineurin Inhibitors Phase 2
22 Antilymphocyte Serum Phase 2
23
Cefoxitin Approved 35607-66-0 441199
24
Cefotaxime Approved 63527-52-6 5742673 456256
25
Rifampicin Approved 13292-46-1 5381226 5458213
26
Phenylephrine Approved 59-42-7 6041
27
Oxymetazoline Approved, Investigational 1491-59-4 4636
28
Metformin Approved 657-24-9 14219 4091
29
Pamidronate Approved 40391-99-9 4674
30
Caffeine Approved 58-08-2 2519
31
mometasone furoate Approved, Investigational, Vet_approved 83919-23-7
32
tannic acid Approved 1401-55-4
33
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337
34 Vasoconstrictor Agents
35 Insulin, Globin Zinc
36 Hypoglycemic Agents
37 insulin
38 Anti-Infective Agents, Local
39 Pharmaceutical Solutions
40 Calamus
41 Cola
42 Anesthetics
43 Anesthetics, General

Interventional clinical trials:

(show top 50) (show all 90)
# Name Status NCT ID Phase Drugs
1 Multi-Center, Randomized, Double-Blind Active-Controlled, Parallel Group Study to Investigate Plasma Folate, Red Blood Cell Folate and Homocysteine Levels During a 24 Week Oral Administration of an OC Containing Folate Compared to OC Alone Completed NCT00468481 Phase 3 Drospirenone/Ethinylestradiol/Methyltetrahydrofolate;Drospirenone/Ethinylestradiol (Yaz)
2 A Randomized, Double-Blind, Two-Part, Parallel-Group, Comparative Study to Evaluate Blood Folate Levels in Women Taking an Oral Contraceptive With and Without Folic Acid Withdrawn NCT00301587 Phase 3 Norgestimate-ethinyl estradiol, with or without folic acid
3 Post Transplant Infusion of Allogeneic Cytokine Induced Killer Cells as Consolidative Therapy After Non-Myeloablative Allogeneic Transplantation in Patients With Myelodysplasia or Myeloproliferative Disorders Completed NCT01392989 Phase 2 CIK cells;Cyclosporine;Mycophenolate Mofetil;Thymoglobulin
4 Lumbar to Sacral Ventral Nerve Re-Routing Completed NCT00378664 Phase 2
5 Coping Skills Training (CST) for Children With Chronic Health Conditions: An Extension From Children With Diabetes to Children With Rheumatologic Conditions, Epilepsy, Spina Bifida, and Asthma Completed NCT00359775 Phase 2
6 Probiotics Improvement of Gastrointestinal and Genitourinary Health in Girls With Spina Bifida (H-23245) Withdrawn NCT00767988 Phase 2
7 Prevention of Neural Tube Defects by Inositol in Conjunction With Folic Acid (PONTI Study) Completed NCT00452829 Phase 1 Folic Acid and inositol;Folic acid and placebo
8 Study to Compare 2 Minimally Invasive Fetal Neural Tube Defect Repair Techniques: Repair Using Durepair Patch vs. Repair Without Durepair Patch Recruiting NCT03794011 Phase 1
9 Minimally Invasive Fetal Neural Tube Defect Repair Study Active, not recruiting NCT02230072 Phase 1
10 Genetics of Neural Tubes Defects Unknown status NCT01253746
11 Assessment of Functional Independence and Quality of Life in Italian Population of Adolescents With Spina Bifid Unknown status NCT00966927
12 Interrater and Intrarater Reliability of Infant Motor Profile: Assessing Motor Profiles of Risky Infants Unknown status NCT03188107
13 The Spina Bifida Research Resource Unknown status NCT00031122
14 Powder Topical Rifampicin on Reducing Infections After Neural Tube Defect Surgery in Infants Unknown status NCT03198819 Local Rifampisin and İnrtravenous cefotaxime
15 The LETS Study: A Longitudinal Evaluation of Transition Services Unknown status NCT00975338
16 Open Spina Bifida Fetoscopic Repair Project Unknown status NCT03562286
17 Incidence of Pregnancies and Births With Spina Bifida in Denmark in 2008-2014 Unknown status NCT02685813
18 Echocardiography Based Algorithm for Prevention and Treatment of Spinal Hypotension- A Prospective Randomised Controlled Study Unknown status NCT03106649
19 Hemangioma Associated With High Rates of Morbidity:A Prospective Study Completed NCT00394888
20 Treatment of Persistent Urinary Incontinence in Children Completed NCT00124046
21 Is Neutrophil to Lymphocyte Ratio a Prognostic Factor of Sepsis in Newborns With Operated Neural Tube Defects? Completed NCT04135274
22 Improving Genetic Counseling for Patients With Spina Bifida Using Next Generation Sequencing Completed NCT02854150
23 Urinary Markers of Detrusor Overactivity in Spina Bifida Patients Completed NCT02852317
24 Fetal Spina Bifida -Prenatal Course and Outcome in 103 Cases A Single Center Experience. Completed NCT01100697
25 Can Dynamic Ultrasonography Replace Urodynamics in the Follow-up of Patients With Myelomeningocele: A Prospective Concurrent Study Completed NCT03550898
26 Blood Folate and Homocysteine Levels Following Administration of Folic Acid According to Different Daily Dosing Schedules:a Simulation of Food Fortification Completed NCT00207558 folic acid
27 Dosage Effects of Folic Acid on Blood Folates of Honduran Women Completed NCT00207532 folic acid
28 Metformin in Children With Motor Deficit Completed NCT00720161 Metformin;placebo
29 Impact of Prenatal Correction of Spina Bifida Using Fetoscopy and the SAFER Technique on Long-term Neurodevelopment. Completed NCT04356703
30 A Randomized Exercise Trial for Wheelchair Users Completed NCT00866112
31 Efficacy of Weekly Versus Daily Folic Acid Supplementation Completed NCT00394862 multivitamin
32 The Relationship Between Nocturnal Enuresis And Spina Bifida Occulta: A Prospective Controlled Trial Completed NCT03543995
33 Prevention of Post Operative Bone Loss in Children Completed NCT00655681 pamidronate
34 Retrograde Colonic Irrigation to Manage Spina Bifida Functional Digestive Sequelae: a Multicenter, Prospective, Randomized Controlled Trial Completed NCT02361450
35 Pilot Study of Folate Pharmacokinetics in Normal Weight and Obese Women of Child-bearing Age Completed NCT01743196
36 Characterization of At-risk Population and Prognosis Factors for SACRO-coccygeal Teratoma in CURRARINO Syndrome. A Clinical, Molecular and Pathological Study. Completed NCT00780117
37 Use of a Diurnal Indwelling Urethral Catheter to Improve Quality of Life for Patients With Spina Bifida and Spinal Cord Injury Completed NCT03573726
38 Influence of "Espresso" on Adsorption of Orally Administrated Myo-inositol in Humans Completed NCT01244399
39 Investigation of Parents' Anxiety Level and Health Related Quality of Life in Different Types of Physical Disabilities Completed NCT04035967
40 Medication Management Among Individuals With Neurodevelopmental Disabilities Completed NCT03121651
41 Myelomeningocele Repair Randomized Trial Completed NCT00060606
42 Efficacy of a Wheelchair Propulsion Training Program for Manual Wheelchair Users: a Pilot Study Completed NCT04009187
43 Parental Perspectives of Using Modified Toy Cars on the Social Interactions of Preschool Children With Mobility Impairments. Completed NCT02682043
44 An Audit of the Posterior Fossa Characterization in Open Spina Bifida Based on Tertiary Center Experience Completed NCT03544970
45 3D-printed Module-assisted Minimally Invasive Lumbar Pedicle Screw Placement: a Retrospective, Self-controlled, Open-label Clinical Trial Completed NCT02970578
46 Randomized Clinical Trial Using Sterile Single-use and Reused Polyvinylchloride Catheter For Intermittent Catheterization With Clean Technique In Neurogenic Bladder Due to Spina Bifida Completed NCT03424499
47 Computer-based and Virtual Assessment of Power Wheelchair Mobility Completed NCT00951509
48 The Effectiveness of Participation-focused Interventions on Body Functions of Youth With Physical Disabilities: An Interrupted Time Series Design Completed NCT03851107
49 A Comparison of the Incidence of Symptomatic Urinary Tract Infections in Children With Spina Bifida Using Hydrophilic or Non-hydrophilic Polyvinyl Chloride Catheters for Clean Intermittent Catheterization: a Randomized Cross Over Trial Completed NCT01263392
50 Cognitive Rehabilitation in Patients With Spina Bifida: Effects on Executive Functions, Psychological and Health Related Factors Completed NCT01302314

Search NIH Clinical Center for Tethered Spinal Cord Syndrome

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Genetic Tests for Tethered Spinal Cord Syndrome

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Anatomical Context for Tethered Spinal Cord Syndrome

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MalaCards organs/tissues related to Tethered Spinal Cord Syndrome:

40
Spinal Cord, Skin, Bone, Brain, Colon, Prostate, Neutrophil
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Publications for Tethered Spinal Cord Syndrome

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Articles related to Tethered Spinal Cord Syndrome:

(show top 50) (show all 60)
# Title Authors PMID Year
1
Tethered Cord Syndrome. 61
31404355 2019
2
[Dissociation of Anatomical (Neurological) Diagnosis and Imaging Diagnosis]. 61
30827958 2019
3
Multiple neurosurgical treatments for different members of the same family with Currarino syndrome. 61
29731315 2018
4
Comprehensive analysis of the clinical and urodynamic outcomes of primary tethered spinal cord before and after spinal cord untethering. 61
27049673 2016
5
Association between chromosomal aberration of COX8C and tethered spinal cord syndrome: array-based comparative genomic hybridization analysis. 61
27651783 2016
6
[Surgical treatment outcomes in children with tethered spinal cord syndrome. A prognosis on the basis of spinal 3T MRI tractography]. 61
27296539 2016
7
Encephalocraniocutaneous Lipomatosis: A Rare Association With Tethered Spinal Cord Syndrome With Review of Literature. 61
28503585 2015
8
Adult intradural lipoma with tethered spinal cord syndrome. 61
25073248 2014
9
Design of a synthetic simulator for pediatric lumbar spine pathologies. 61
23705840 2013
10
Tethered spinal cord syndrome detected during ultrasound for caudal block in a child with single urological anomaly. 61
23814660 2013
11
Detethering of a congenital tethered cord in adult patients: an outcome analysis. 61
23471599 2013
12
Inappropriate surgical interventions for midline fusion defects cause secondary tethered cord symptoms: implications for natural history report of four cases. 61
22349900 2012
13
[Neuroendoscopic management of tethered spinal cord syndrome]. 61
22093731 2011
14
MRI findings, surgical treatment and follow-up of a myelomeningocele with tethered spinal cord syndrome in a cat. 61
21439878 2011
15
Electrophysiologically guided untethering of secondary tethered spinal cord syndrome. 61
20594001 2010
16
Tethered spinal cord syndrome with symptomatic onset in adulthood. 61
19951591 2009
17
Intermittent back and leg pain with numbness. Tethered spinal cord syndrome. 61
18841738 2008
18
Tethered spinal cord syndrome. 61
17615225 2007
19
Tethered spinal cord syndrome--the importance of time for outcomes. 61
17638158 2007
20
Midline defects in FG syndrome: does tethered spinal cord contribute to the phenotype? 61
15812461 2005
21
The caudal end of the rat spinal cord: transformation to and ultrastructure of the filum terminale. 61
15527738 2004
22
Subacute formation of syrinx post-untethering of spinal cord. 61
15687738 2004
23
Long-term outcomes of surgical treatment for tethered cord syndrome. 61
14734971 2004
24
Long-term outcome of neurosurgical untethering on neurosegmental motor and ambulation levels. 61
12882534 2003
25
Medullary cone movement in subjects with a normal spinal cord and in patients with a tethered spinal cord. 61
11425999 2001
26
Surgical treatment of tethered spinal cord syndrome in a dog with myelomeningocele. 61
11442238 2001
27
[Diastematomyelia and the tethered spinal cord syndrome. Case report]. 61
11392046 2001
28
Congenital tethered spinal cord syndrome in adults. 61
16749759 2001
29
Long-term outcome for patients with split cord malformation. 61
16749757 2001
30
Successful pregnancies in a case of retrograde ejaculation associated with tethered spinal cord syndrome. 61
10955250 2000
31
Patients with urinary incontinence often benefit from surgical detethering of tight filum terminale. 61
10804050 2000
32
Unilateral hyperhidrosis, callosities, and nail dystrophy in a boy with tethered spinal cord syndrome. 61
9875980 1998
33
The human tail. 61
9806144 1998
34
Congenital tethered spinal cord syndrome in adults. 61
9609288 1998
35
[Tethered spinal cord syndrome in adults]. 61
9273457 1997
36
A new model for tethered cord syndrome: a biochemical, electrophysiological, and electron microscopic study. 61
9419028 1997
37
Urodynamic findings in the tethered spinal cord syndrome: does surgical release improve bladder function? 61
8996368 1997
38
Tethered cord syndrome. 61
8734402 1996
39
Tethered spinal cord and an intradural lipoma associated with a meningocele in a Manx-type cat. 61
8244864 1993
40
[Anomalous course of a lipomeningocele]. 61
1389976 1992
41
Intraoperative monitoring for tethered spinal cord syndrome. 61
1750002 1991
42
Pre- and postoperative urodynamic findings in children with tethered spinal cord syndrome. 61
2022217 1991
43
[Treatment of neuromyelopathy after repair of myelomeningocele or meningocele]. 61
2269043 1990
44
Tethered cord syndrome: clinical signs and results of operation in 42 patients with spina bifida aperta and occulta. 61
2696287 1989
45
Tethered cord syndrome in the adult postoperative myelomeningocele patient. A case report. 61
2781403 1989
46
[Neurogenic bladder dysfunction due to tethered spinal cord syndrome in adults: report of two cases]. 61
2678985 1989
47
[Spinal dysraphia and tethered cord syndrome. Current developments]. 61
2678598 1989
48
MR imaging in the tethered spinal cord syndrome. 61
2784267 1989
49
The tethered spinal cord syndrome: a correlation of radiological features and peroperative findings in 30 patients. 61
2717007 1989
50
[Tethered spinal cord syndrome]. 61
2952889 1987
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Variations for Tethered Spinal Cord Syndrome

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ClinVar genetic disease variations for Tethered Spinal Cord Syndrome:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BRAF NM_001374258.1(BRAF):c.1720G>C (p.Gly574Arg)SNV Pathogenic/Likely pathogenic 13980 rs180177041 7:140476806-140476806 7:140777006-140777006
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Expression for Tethered Spinal Cord Syndrome

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Search GEO for disease gene expression data for Tethered Spinal Cord Syndrome.
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Pathways for Tethered Spinal Cord Syndrome

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GO Terms for Tethered Spinal Cord Syndrome

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Biological processes related to Tethered Spinal Cord Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to nerve growth factor stimulus GO:1990090 8.8 KIDINS220 BRAF ACAP2
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Sources for Tethered Spinal Cord Syndrome

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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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