MCID: CRV043
MIFTS: 44

Cervical Dystonia malady

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Cervical Dystonia

Aliases & Descriptions for Cervical Dystonia:

Name: Cervical Dystonia 12 50 14
Spasmodic Torticollis 12 50

Classifications:



External Ids:

Disease Ontology 12 DOID:0050840
ICD10 33 G24.3

Summaries for Cervical Dystonia

NIH Rare Diseases : 50 cervical dystonia is a neurological condition characterized by excessive pulling of the muscles of the neck and shoulder resulting in abnormal movements of the head (dystonia). most commonly, the head turns to one side or the other. tilting sideways, or to the back or front may also occur. the turning or tilting movements may be accompanied by shaking movement (tremor) and/or soreness of the muscles of the neck and shoulders. cervical dystonia can occur at any age, but most cases occur in middle age. it often begins slowly and usually reaches a plateau over a few months or years. the cause of cervical dystonia is often unknown. in some cases there is a family history. several genes have been associated with cervical dystonia, including gnal, thap1, ciz1, and ano3. other cases may be linked to an underlying disease (e.g. parkinson disease), neck trauma, or certain medications. treatment may include local injections of botulinum toxin, pain medications, benzodiazepines (anti-anxiety medications), anticholinergics, physical therapy, or surgery. last updated: 11/30/2016

MalaCards based summary : Cervical Dystonia, also known as spasmodic torticollis, is related to focal hand dystonia and meige syndrome. An important gene associated with Cervical Dystonia is CIZ1 (CDKN1A Interacting Zinc Finger Protein 1), and among its related pathways/superpathways are Actin Nucleation by ARP-WASP Complex and TCR Signaling (Qiagen). The drugs Acetylcholine and Menthol have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and globus pallidus, and related phenotype is behavior/neurological.

Disease Ontology : 12 A focal dystonia that is characterized by simultaneous contraction of the agonist and antagonist muscles that control the position of the head contracting during dystonic movement which causes the neck to involuntarily turn to the left, right, upwards, and/or downwards.

Wikipedia : 71 Spasmodic torticollis is an extremely painful chronic neurological movement disorder causing the neck to... more...

Related Diseases for Cervical Dystonia

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

(show top 50) (show all 91)
id Related Disease Score Top Affiliating Genes
1 focal hand dystonia 29.1 BDNF CIZ1 GCH1 TOR1A
2 meige syndrome 11.2
3 leukoencephalopathy with dystonia and motor neuropathy 11.1
4 torticollis, familial 11.1
5 cervicitis 11.0
6 dystonia 11.0
7 dystonia 23 10.9
8 dystonia 24 10.9
9 blepharospasm 10.3
10 osteogenesis imperfecta congenita, microcephaly, and cataracts 10.2 HLA-DQA1 HLA-DQB1
11 tremor 10.2
12 apple allergy 10.1 HLA-DQB1 HLA-DRB1
13 albinism 10.1 HLA-DQA1 HLA-DRB1
14 immune deficiency, familial variable 10.1 HLA-DQB1 HLA-DRB1
15 lin-gettig syndrome 10.1 HLA-DQB1 HLA-DRB1
16 midline interhemispheric variant of holoprosencephaly 10.1 HLA-DQB1 HLA-DRB1
17 kernicterus due to isoimmunization 10.1 HLA-DQA1 HLA-DRB1
18 autosomal dominant intermediate charcot-marie-tooth 10.1 HLA-DQB1 HLA-DRB1
19 renal agenesis meningomyelocele mullerian defect 10.1 HLA-DQB1 HLA-DRB1
20 lyme disease - neurological complications 10.1 HLA-DQB1 HLA-DRB1
21 distal trisomy 14q 10.1 HLA-DQB1 HLA-DRB1
22 learning disability 10.1 HLA-DQB1 HLA-DRB1
23 linear lichen planus 10.1 HLA-DQB1 HLA-DRB1
24 night blindness 10.1 HLA-DQB1 HLA-DRB1
25 neonatal antiphospholipid syndrome 10.1 HLA-DQB1 HLA-DRB1
26 clostridium difficile colitis 10.1 HLA-DQB1 HLA-DRB1
27 migraine with aura 10.1 HLA-DQA1 HLA-DQB1
28 myofibroma 10.1 HLA-DQB1 HLA-DRB1
29 hemidystonia 10.1 GCH1 TOR1A
30 spasmodic dystonia 10.1 DRD5 TOR1A
31 ataxia 10.1
32 good syndrome 10.1 HLA-DQB1 TOR1A
33 cryptococcosis 10.0 HLA-DQB1 HLA-DRB1
34 lethal congenital contracture syndrome 1 10.0 GCH1 TOR1A
35 specific language impairment 5 10.0 GCH1 TOR1A
36 spastic paraplegia 44, autosomal recessive 10.0 GCH1 TOR1A
37 anaerobic meningitis 10.0 HLA-DQB1 HLA-DRB1
38 essential tremor 10.0
39 hemoglobin d disease 10.0 HLA-DQA1 HLA-DQB1 HLA-DRB1
40 bilateral parasagittal parieto-occipital polymicrogyria 10.0 HLA-DQA1 HLA-DQB1 HLA-DRB1
41 cervical adenoid basal carcinoma 10.0 HLA-DQA1 HLA-DQB1 HLA-DRB1
42 bickerstaff brainstem encephalitis 10.0 HLA-DQA1 HLA-DQB1 HLA-DRB1
43 ragweed sensitivity 10.0 HLA-DQA1 HLA-DQB1 HLA-DRB1
44 advanced sleep phase syndrome, familial, 1 10.0 BDNF HLA-DQB1 HLA-DRB1
45 periampullary adenoma 10.0 GCH1 TOR1A
46 sleep apnea 10.0 GNAL TOR1A
47 parotid gland cancer 9.9 HLA-DQA1 HLA-DQB1 HLA-DRB1
48 myopathy, distal, with early respiratory failure, autosomal dominant 9.9 HLA-DQB1 TOR1A
49 low anorectal malformation 9.9 HLA-DQB1 HLA-DRB1
50 obstructive sleep apnea 9.9 DRD5 GCH1 TOR1A

Graphical network of the top 20 diseases related to Cervical Dystonia:



Diseases related to Cervical Dystonia

Symptoms & Phenotypes for Cervical Dystonia

MGI Mouse Phenotypes related to Cervical Dystonia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.17 TOR1A BDNF CIZ1 DRD5 GNAL HLA-DQB1

Drugs & Therapeutics for Cervical Dystonia

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

(show top 50) (show all 70)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-84-3 187
2
Menthol Approved Phase 4 2216-51-5 16666
3
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
4
Ibuprofen Approved Phase 4 15687-27-1 3672
5
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
6
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
7 abobotulinumtoxinA Phase 4,Phase 3,Phase 1,Phase 2
8 Botulinum Toxins Phase 4,Phase 3,Phase 2,Phase 1
9 Botulinum Toxins, Type A Phase 4,Phase 3,Phase 1,Phase 2
10 Cholinergic Agents Phase 4,Phase 3,Phase 2,Phase 1
11 incobotulinumtoxinA Phase 4,Phase 3,Phase 1,Phase 2
12 Neuromuscular Agents Phase 4,Phase 3,Phase 1,Phase 2
13 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
14 onabotulinumtoxinA Phase 4,Phase 3,Phase 1,Phase 2
15 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
16 Analgesics Phase 4,Phase 2,Phase 1
17 Analgesics, Non-Narcotic Phase 4,Phase 2,Phase 1
18 Anti-Inflammatory Agents Phase 4,Phase 1,Phase 2
19 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 1,Phase 2
20 Antirheumatic Agents Phase 4,Phase 1,Phase 2
21 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2
22 rimabotulinumtoxinB Phase 4,Phase 2
23 Adjuvants, Anesthesia Phase 4
24 Analgesics, Opioid Phase 4
25 Anesthetics Phase 4,Phase 1,Phase 2
26 Anesthetics, General Phase 4
27 Anesthetics, Intravenous Phase 4
28 Central Nervous System Depressants Phase 4
29 Cyclooxygenase Inhibitors Phase 4
30 Narcotics Phase 4
31 Anesthetics, Local Phase 4
32 Anti-Arrhythmia Agents Phase 4
33 Diuretics, Potassium Sparing Phase 4
34 Sodium Channel Blockers Phase 4
35
Dronabinol Approved, Illicit Phase 2 1972-08-3 16078 2978
36
Etanercept Approved, Investigational Phase 1, Phase 2 185243-69-0
37
Amlodipine Approved Phase 2 88150-42-9 2162
38 Cannabinoid Receptor Agonists Phase 2
39 Hallucinogens Phase 2
40 Hormone Antagonists Phase 2
41 Hormones Phase 2
42 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
43 Psychotropic Drugs Phase 2
44 Autoantibodies Phase 1, Phase 2
45 Gastrointestinal Agents Phase 1, Phase 2
46 Immunosuppressive Agents Phase 1, Phase 2
47 Antihypertensive Agents Phase 2
48 calcium channel blockers Phase 2
49 Calcium, Dietary Phase 2
50 Vasodilator Agents Phase 2

Interventional clinical trials:

(show top 50) (show all 112)
id Name Status NCT ID Phase
1 The Impact of Botulinum Toxin Treatment in Quality of Life of Cervical Dystonia Patients Unknown status NCT01664013 Phase 4
2 Efficacy and Safety of Meditoxin® Injection for Cervical Dystonia in Adults With Cerebral Palsy Unknown status NCT01860196 Phase 4
3 Botox for Cervical Dystonia Following EMG Mapping Completed NCT00773253 Phase 4
4 An Open Label Safety and Immunogenicity Study of MYOBLOC (Neurobloc; Botulinum Toxin Type B) Injectable Solution in Patients With Cervical Dystonia Completed NCT00702754 Phase 4
5 A Study to Compare Dysport® and Botox® in the Treatment of Cervical Dystonia Completed NCT00950664 Phase 4
6 Open-Label Non-Inferiority Study Evaluating the Efficacy and Safety of Xeomin® in Subjects With Cervical Dystonia Flex Completed NCT01486264 Phase 4
7 Daily Dystonia Practice - A Trial to Investigate NT 201, the Duration of Treatment Effect After One Injection Session and in Long-term Treatment in Cervical Dystonia Completed NCT00541905 Phase 4
8 A Retrospective Chart Review of BOTOX® and Xeomin® for the Management of Cervical Dystonia and Blepharospasm Completed NCT02245958 Phase 4
9 Neurotoxin and Physical Therapy Completed NCT02177617 Phase 4
10 Effect of Botulinum Toxin Type A on Swallowing in Patients With Cervical Dystonia Completed NCT01384214 Phase 4
11 Comparison of Efficacy and Safety of Two Different Types of Botulinum Toxin Type A in Moderate to Severe Cervical Dystonia Completed NCT00528541 Phase 4
12 Post Marketing Surveillance Study of Dysport Completed NCT00210431 Phase 4
13 Ultrasound Guided Intermediate Cervical Plexus Block for Congenital Muscular Torticollis Completed NCT02651311 Phase 4
14 OnabotulinumtoxinA in the Management of Psychogenic Dystonia Recruiting NCT02618889 Phase 4
15 Efficacy and Safety of Two Different Botulinum Toxin Type A Treatments for Moderate to Severe Cervical Dystonia Terminated NCT00432341 Phase 4
16 Efficacy of Botulinum Toxin Versus Lidocaine in Treating Masticatory Myofascial Face Pain Using Ultrasound and EMG Guided Techniques Terminated NCT00992108 Phase 4
17 Study to Assess the Efficacy and Safety of Dysport® in Cervical Dystonia Completed NCT00447772 Phase 3
18 Double-Blind, Multicenter Study to Assess the Efficacy of Bilateral Pallidal Stimulation in Patients With Medically Refractory Primary Cervical Dystonia Completed NCT00148889 Phase 3
19 Efficacy and Safety of DYSPORT® Using 2mL Dilution in Adults With Cervical Dystonia. Completed NCT01753310 Phase 3
20 Study Comparing Short Term Efficacy of Dysport® and Dysport RU® to Placebo, and to Assess Efficacy and Safety of Dysport RU® of Subjects With Cervical Dystonia Completed NCT01261611 Phase 3
21 Open-label Extension Study of AbobotulinumtoxinA (Dysport®) for the Treatment of Cervical Dystonia Completed NCT00288509 Phase 3
22 Randomized, Placebo-Controlled Study of AbobotulinumtoxinA (Dysport®) for the Treatment of Cervical Dystonia Completed NCT00257660 Phase 3
23 Long Term Safety And Effectiveness Of Dysport® In Adults With Cervical Dystonia Completed NCT01753336 Phase 3
24 IncobotulinumtoxinA (Xeomin) Versus Placebo in the Treatment of Cervical Dystonia Completed NCT00407030 Phase 3
25 Evaluation of Botulinum Toxin Injection Efficacy in the Treatment of Head Essential Tremor Recruiting NCT02555982 Phase 3
26 Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic Paraplegia Active, not recruiting NCT02604186 Phase 2, Phase 3
27 Efficacy of Dronabinol for the Treatment of Cervical Dystonia Unknown status NCT00418925 Phase 2
28 ASIS for Botox in Cervical Dystonia Unknown status NCT02074293 Phase 1, Phase 2
29 Safety and Tolerability of Perampanel in Cervical Dystonia Unknown status NCT02131467 Phase 1, Phase 2
30 ASIS for Enbrel in Plaque Psoriasis Unknown status NCT02112097 Phase 1, Phase 2
31 Botulinum Toxin Type A (Botox) for the Treatment of Cervical Dystonia and Upper Thoracic Muscular Pain Completed NCT00178945 Phase 1, Phase 2
32 Study to Evaluate Safety, Efficacy of Botulinum Toxin Type A in Patients With Cervical Dystonia Completed NCT00564681 Phase 2
33 Randomized, Double-Blind, Placebo-Controlled, Parallel, Group Dose-Response, Study of E2014 in Patients WIth Spasmodic Torticollis Completed NCT00165776 Phase 2
34 Study for Determine the Safety and Efficacy of Clostridium Botulinum Toxin Type A in Subjects With Cervical Dystonia Completed NCT01588574 Phase 2
35 Amlodipine Plus Botulinum Toxin for Focal Dystonia Completed NCT00015457 Phase 2
36 Deep Brain Stimulation for Cervical Dystonia Completed NCT00105430 Phase 2
37 An Electrophysiological Study Of E2014 In Healthy Adult Male Japanese And Caucasian Subjects Completed NCT00280384 Phase 2
38 Deep Brain Stimulation in Patients With Dystonia Completed NCT00773604 Phase 1, Phase 2
39 Transcranial Electrical Polarization to Treat Focal Hand Dystonia Completed NCT00106782 Phase 2
40 Motor Training to Treat Hand Dystonia Completed NCT00021853 Phase 2
41 Effect of Type-A Botulinum Toxin in the Post-radiosurgical Neck Contractures Completed NCT02986880 Phase 2
42 Clinical and Kinematic Assessment for Determination of Botox® Injection Parameters in Cervical Dystonia Recruiting NCT02662530 Phase 2
43 Study of the Treatment of Tendinopathy Unruptured of Rotator Cuff by Intramuscular Injection of Botulinum Toxin Recruiting NCT02867787 Phase 2
44 Dose-escalating Safety and Preliminary Efficacy of DaxibotulinumtoxinA for Injection in Cervical Dystonia Active, not recruiting NCT02706795 Phase 2
45 Effectiveness and Safety of Adipose-derived Regenerative Cells for Reduction of Risk of Bladder Neck Contracture Enrolling by invitation NCT02869061 Phase 1, Phase 2
46 Keppra for Cervical Dystonia Suspended NCT00760318 Phase 2
47 Botulinum Toxin Injection Efficiency Unknown status NCT01041157 Phase 1
48 Deep Brain Stimulation to Treat Cervical Dystonia Completed NCT00132340 Phase 1
49 PurTox (Botulinum Toxin Type A) for the Treatment of Adult Onset Spasmodic Torticollis/Cervical Dystonia Completed NCT00549341 Phase 1
50 Study of Air Stream in Voice Production Completed NCT00015795 Phase 1

Search NIH Clinical Center for Cervical Dystonia

Genetic Tests for Cervical Dystonia

Anatomical Context for Cervical Dystonia

MalaCards organs/tissues related to Cervical Dystonia:

39
Brain, Testes, Globus Pallidus, Cortex, Subthalamic Nucleus, T Cells, Heart

Publications for Cervical Dystonia

Articles related to Cervical Dystonia:

(show top 50) (show all 603)
id Title Authors Year
1
The occurrence of lateral shift in cervical dystonia. ( 28054172 )
2017
2
Reply: Contributions of visual and motor signals in cervical dystonia. ( 27993889 )
2017
3
Modulation of the muscle activity during sleep in cervical dystonia. ( 28525628 )
2017
4
Contributions of visual and motor signals in cervical dystonia. ( 27993890 )
2017
5
Sensory tricks in primary blepharospasm and idiopathic cervical dystonia. ( 28488615 )
2017
6
Alterations of resting-state fMRI measurements in individuals with cervical dystonia. ( 28504361 )
2017
7
Endophenotyping in idiopathic adult onset cervical dystonia. ( 28511126 )
2017
8
Poster 296 AbobotulinumtoxinA Injection Patterns in Patients with Cervical Dystonia from the ANCHOR-CD Registry Study. ( 27673052 )
2016
9
Poster 290 Efficacy and Safety of a 2 mL Dilution of AbobotulinumtoxinA Compared with Placebo in Adult Patients with Cervical Dystonia. ( 27673045 )
2016
10
Psychiatric co-morbidity is highly prevalent in idiopathic cervical dystonia and significantly influences health-related quality of life: Results of a controlled study. ( 27321988 )
2016
11
Overuse Cervical Dystonia: A Case Report and Literature Review. ( 27708983 )
2016
12
Botulinum toxin type A versus botulinum toxin type B for cervical dystonia. ( 27782297 )
2016
13
Efficacy and safety of abobotulinumtoxinA liquid formulation in cervical dystonia: A randomized-controlled trial. ( 27653448 )
2016
14
Electrophysiological interpretations of the clinical response to stimulation parameters of pallidal deep brain stimulation for cervical dystonia. ( 27562682 )
2016
15
Impact of Neu-botulinumtoxinA on the Severity and Quality of Life of Cervical Dystonia Patients. ( 27536464 )
2016
16
Brain Metabolic Changes of Cervical Dystonia with Spinocerebellar Ataxia Type 1 after Botulinum Toxin Therapy. ( 27432104 )
2016
17
Explicit Agency in Patients with Cervical Dystonia: Altered Recognition of Temporal Discrepancies between Motor Actions and Their Feedback. ( 27575487 )
2016
18
A Functional Magnetic Resonance Imaging Study of Head Movements in Cervical Dystonia. ( 27895619 )
2016
19
Poster 498 Geographic Differences in the Characteristics of Cervical Dystonia Patients. ( 27673242 )
2016
20
Cerebellar Intermittent Theta-Burst Stimulation and Motor Control Training in Individuals with Cervical Dystonia. ( 27886079 )
2016
21
The role of polymyography in the treatment of cervical dystonia: the authors reply. ( 27393115 )
2016
22
Impaired heart rate variability in cervical dystonia is associated to depression. ( 27816992 )
2016
23
Clinical and demographic characteristics related to onset site and spread of cervical dystonia. ( 27753188 )
2016
24
Cervical dystonia and quality of life. ( 27138215 )
2016
25
Cervical dystonia: a neural integrator disorder. ( 27324878 )
2016
26
Bilateral Pallidotomy for Cervical Dystonia After Failed Selective Peripheral Denervation. ( 26802868 )
2016
27
Botulinum Toxin Treatment of Cervical Dystonia. ( 26866496 )
2016
28
Early-onset parkinsonism induced by pallidal deep brain stimulation in cervical dystonia. ( 27132461 )
2016
29
The role of polymyography in the treatment of cervical dystonia. ( 27314962 )
2016
30
Striving for more good days: patient perspectives on botulinum toxin for the treatment of cervical dystonia. ( 27578965 )
2016
31
Botulinum toxin type A with or without needle electromyographic guidance in patients with cervical dystonia. ( 27547666 )
2016
32
Association Analysis of NALCN Polymorphisms rs1338041 and rs61973742 in a Chinese Population with Isolated Cervical Dystonia. ( 27239368 )
2016
33
A Rare Cervical Dystonia Mimic in Adults: Congenital Muscular Torticollis (Fibromatosis colli), a Follow-up. ( 26869987 )
2016
34
Cost-Effectiveness of Incobotulinumtoxin-A with Flexible Treatment Intervals Compared to Onabotulinumtoxin-A in the Management of Blepharospasm and Cervical Dystonia. ( 27021747 )
2016
35
Ataxia with Vitamin E Deficiency May Present with Cervical Dystonia. ( 27274910 )
2016
36
Anatomy and cervical dystonia : "Dysfunction follows form". ( 27624726 )
2016
37
Clinical and genetic features of cervical dystonia in a large multicenter cohort. ( 27123488 )
2016
38
Ultrasound and Electromyography Guidance for Injection of the Longus Colli With Botulinum Toxin for the Treatment of Cervical Dystonia. ( 26886108 )
2016
39
British Neurotoxin Network recommendations for managing cervical dystonia in patients with a poor response to botulinum toxin. ( 26976927 )
2016
40
Occurrence of Dysphagia Following Botulinum Toxin Injection in Parkinsonism-related Cervical Dystonia: A Retrospective Study. ( 27830106 )
2016
41
Botulinum toxin type B for cervical dystonia. ( 27176573 )
2016
42
Determinants of disability in cervical dystonia. ( 27553512 )
2016
43
Unmet Needs in the Management of Cervical Dystonia. ( 27733842 )
2016
44
Submolecular recognition regions of the HN domain of the heavy chain of botulinum neurotoxin type A by T cells from toxin-treated cervical dystonia patients. ( 27806874 )
2016
45
The "shirt collar sign" of cervical dystonia. ( 27245470 )
2016
46
Clinimetric testing of the comprehensive cervical dystonia rating scale. ( 26971359 )
2016
47
Corrigendum: Unmet Needs in the Management of Cervical Dystonia. ( 28003807 )
2016
48
Practice guideline update summary: Botulinum neurotoxin for the treatment of blepharospasm, cervical dystonia, adult spasticity, and headache: Report of the Guideline Development Subcommittee of the American Academy of Neurology. ( 27164716 )
2016
49
Neck Pain and Cervical Dystonia: Treatment Outcomes from CD PROBE (Cervical Dystonia Patient Registry for Observation of OnabotulinumtoxinA Efficacy). ( 26910788 )
2016
50
Association analysis of TOR1A polymorphisms rs2296793 and rs3842225 in a Chinese population with cervical dystonia. ( 26704435 )
2016

Variations for Cervical Dystonia

Expression for Cervical Dystonia

Search GEO for disease gene expression data for Cervical Dystonia.

Pathways for Cervical Dystonia

Pathways related to Cervical Dystonia according to GeneCards Suite gene sharing:

(show all 18)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.71 GNAL HLA-DQA1 HLA-DQB1 HLA-DRB1
2
Show member pathways
12.64 GNAL HLA-DQA1 HLA-DQB1 HLA-DRB1
3 12.15 HLA-DQA1 HLA-DQB1 HLA-DRB1
4
Show member pathways
12.07 HLA-DQA1 HLA-DQB1 HLA-DRB1
5 12.02 HLA-DQA1 HLA-DQB1 HLA-DRB1
6
Show member pathways
11.97 HLA-DQA1 HLA-DQB1 HLA-DRB1
7 11.92 HLA-DQA1 HLA-DQB1 HLA-DRB1
8
Show member pathways
11.89 HLA-DQA1 HLA-DQB1 HLA-DRB1
9
Show member pathways
11.84 GNAL HLA-DQA1 HLA-DQB1 HLA-DRB1
10 11.81 HLA-DQA1 HLA-DQB1 HLA-DRB1
11 11.77 HLA-DQA1 HLA-DQB1 HLA-DRB1
12
Show member pathways
11.65 HLA-DQA1 HLA-DQB1 HLA-DRB1
13
Show member pathways
11.62 HLA-DQA1 HLA-DQB1 HLA-DRB1
14 11.56 HLA-DQA1 HLA-DQB1 HLA-DRB1
15 11.48 HLA-DQA1 HLA-DQB1 HLA-DRB1
16 11.39 HLA-DQA1 HLA-DQB1 HLA-DRB1
17 10.88 HLA-DQA1 HLA-DQB1 HLA-DRB1
18 10.78 GNAL HLA-DQA1 HLA-DQB1 HLA-DRB1

GO Terms for Cervical Dystonia

Cellular components related to Cervical Dystonia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 lysosomal membrane GO:0005765 9.63 HLA-DQA1 HLA-DQB1 HLA-DRB1
2 endosome membrane GO:0010008 9.61 HLA-DQA1 HLA-DQB1 HLA-DRB1
3 trans-Golgi network membrane GO:0032588 9.58 HLA-DQA1 HLA-DQB1 HLA-DRB1
4 endocytic vesicle membrane GO:0030666 9.54 HLA-DQA1 HLA-DQB1 HLA-DRB1
5 ER to Golgi transport vesicle membrane GO:0012507 9.5 HLA-DQA1 HLA-DQB1 HLA-DRB1
6 transport vesicle membrane GO:0030658 9.43 HLA-DQA1 HLA-DQB1 HLA-DRB1
7 clathrin-coated endocytic vesicle membrane GO:0030669 9.33 HLA-DQA1 HLA-DQB1 HLA-DRB1
8 integral component of lumenal side of endoplasmic reticulum membrane GO:0071556 9.13 HLA-DQA1 HLA-DQB1 HLA-DRB1
9 MHC class II protein complex GO:0042613 8.8 HLA-DQA1 HLA-DQB1 HLA-DRB1

Biological processes related to Cervical Dystonia according to GeneCards Suite gene sharing:

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 T cell receptor signaling pathway GO:0050852 9.65 HLA-DQA1 HLA-DQB1 HLA-DRB1
2 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.61 HLA-DQA1 HLA-DQB1 HLA-DRB1
3 T cell costimulation GO:0031295 9.54 HLA-DQA1 HLA-DQB1 HLA-DRB1
4 adenylate cyclase-activating G-protein coupled receptor signaling pathway GO:0007189 9.52 DRD5 GNAL
5 activation of adenylate cyclase activity GO:0007190 9.51 DRD5 GNAL
6 interferon-gamma-mediated signaling pathway GO:0060333 9.5 HLA-DQA1 HLA-DQB1 HLA-DRB1
7 negative regulation of blood pressure GO:0045776 9.49 DRD5 GCH1
8 adenylate cyclase-activating dopamine receptor signaling pathway GO:0007191 9.46 DRD5 GNAL
9 regulation of protein localization to cell surface GO:2000008 9.4 BDNF TOR1A
10 antigen processing and presentation GO:0019882 9.33 HLA-DQA1 HLA-DQB1 HLA-DRB1
11 humoral immune response mediated by circulating immunoglobulin GO:0002455 9.26 HLA-DQB1 HLA-DRB1
12 immunoglobulin production involved in immunoglobulin mediated immune response GO:0002381 8.96 HLA-DQB1 HLA-DRB1
13 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 8.8 HLA-DQA1 HLA-DQB1 HLA-DRB1

Molecular functions related to Cervical Dystonia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 peptide antigen binding GO:0042605 9.13 HLA-DQA1 HLA-DQB1 HLA-DRB1
2 MHC class II receptor activity GO:0032395 8.8 HLA-DQA1 HLA-DQB1 HLA-DRB1

Sources for Cervical Dystonia

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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