MCID: BLP003
MIFTS: 45

Blepharospasm

Categories: Eye diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Blepharospasm

MalaCards integrated aliases for Blepharospasm:

Name: Blepharospasm 12 73 53 29 54 6 44 15 39 70 32

Classifications:



External Ids:

Disease Ontology 12 DOID:529
ICD9CM 34 333.81
MeSH 44 D001764
NCIt 50 C118723
SNOMED-CT 67 155009007
ICD10 32 G24.5
UMLS 70 C0005747

Summaries for Blepharospasm

NINDS : 53 Benign essential blepharospasm (BEB) is a progressive neurological disorder characterized by involuntary muscle contractions and spasms of the eyelid muscles. It is a form of dystonia, a movement disorder in which muscle contractions cause sustained eyelid closure, twitching or repetitive movements. BEB begins gradually with increased frequency of eye blinking often associated with eye irritation. Other symptoms may include increasing difficulty in keeping the eyes open, and light sensitivity. Generally, the spasms occur during the day, disappear in sleep, and reappear after waking. As the condition progresses, the spasms may intensify, forcing the eyelids to remain closed for long periods of time, and thereby causing substantial visual disturbance or functional blindness. It is important to note that the blindness is caused solely by the uncontrollable closing of the eyelids and not by a dysfunction of the eyes. BEB occurs in both men and women, although it is especially common in middle-aged and elderly women.

MalaCards based summary : Blepharospasm is related to lymphatic malformation 5 and torticollis, and has symptoms including myoclonus, torticollis and oromandibular dystonia. An important gene associated with Blepharospasm is DRD5 (Dopamine Receptor D5). The drugs Acetylcholine and abobotulinumtoxinA have been mentioned in the context of this disorder. Affiliated tissues include eye, cortex and cerebellum, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 A focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks.

Wikipedia : 73 Blepharospasm is any abnormal contraction of the orbicularis oculi muscle. The condition should be... more...

Related Diseases for Blepharospasm

Diseases in the Blepharospasm family:

Blepharospasm, Benign Essential

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

(show top 50) (show all 214)
# Related Disease Score Top Affiliating Genes
1 lymphatic malformation 5 31.8 TOR1A THAP1 TAF1L TAF1 SGCE
2 torticollis 30.8 TOR1A CIZ1
3 dystonia 3, torsion, x-linked 30.0 TOR1A THAP1 TAF1L TAF1 SGCE GCH1
4 spasmodic dysphonia 30.0 TOR1A THAP1
5 dystonia 24 29.8 THAP1 GNAL ANO3
6 cranio-facial dystonia 29.8 TOR1A THAP1 CDIP1 ARSG
7 migraine with or without aura 1 29.7 SNAP25 DRD5 BDNF ATP1A3
8 essential tremor 29.7 HS1BP3 BDNF ANO3
9 isolated dystonia 29.6 TOR1A THAP1 GNAL GCH1 ANO3
10 dystonia 1, torsion, autosomal dominant 29.4 TOR2A TOR1A THAP1 SGCE GNAL CIZ1
11 cervical dystonia 29.1 TOR1A THAP1 SGCE GNAL GCH1 DRD5
12 oromandibular dystonia 28.9 TOR1A THAP1 SGCE PANK2 GNAL GCH1
13 dystonia 28.3 TOR2A TOR1A TIMM8A THAP1 TAF1 SGCE
14 choreatic disease 28.2 TOR1A THAP1 SGCE PANK2 GNAL GCH1
15 hemidystonia 27.9 TOR1A THAP1 TAF1L TAF1 SGCE GNAL
16 movement disease 27.8 TOR1A TIMM8A THAP1 TAF1L TAF1 SGCE
17 multifocal dystonia 27.7 TOR1A THAP1 TAF1L TAF1 SGCE GNAL
18 focal dystonia 27.5 TOR1A TIMM8A THAP1 TAF1L TAF1 SNAP25
19 segmental dystonia 27.5 TOR1A THAP1 TAF1L TAF1 SGCE GNAL
20 dystonia 12 27.0 TOR1A THAP1 TAF1L TAF1 SGCE PANK2
21 blepharospasm, benign essential 11.8
22 schwartz-jampel syndrome, type 1 10.9
23 aceruloplasminemia 10.9
24 spinocerebellar ataxia 31 10.9
25 corneal dystrophy, meesmann, 1 10.9
26 glaucoma 3, primary congenital, a 10.9
27 dyt-thap1 10.9
28 vernal keratoconjunctivitis 10.9
29 hemifacial spasm, familial 10.8
30 hemifacial spasm 10.8
31 ptosis 10.7
32 apraxia 10.5
33 apraxia of eyelid opening 10.4
34 ifap syndrome 2 10.4
35 yemenite deaf-blind hypopigmentation syndrome 10.3
36 parkinsonism 10.3
37 tremor 10.3
38 conversion disorder 10.3 TOR1A BDNF
39 strabismus 10.2
40 mechanical strabismus 10.2
41 dystonia 23 10.2 CIZ1 ANO3
42 supranuclear palsy, progressive, 1 10.2
43 bell's palsy 10.2
44 dystonia 6, torsion 10.2 THAP1 CIZ1
45 myasthenia gravis 10.1
46 lagophthalmos 10.1
47 eye disease 10.1
48 dystonia 27 10.1 GNAL CIZ1 ANO3
49 facial paralysis 10.1
50 headache 10.1

Graphical network of the top 20 diseases related to Blepharospasm:



Diseases related to Blepharospasm

Symptoms & Phenotypes for Blepharospasm

UMLS symptoms related to Blepharospasm:


myoclonus; torticollis; oromandibular dystonia; lingual dystonia; erythema of the eyelids; spasmodic torticollis

GenomeRNAi Phenotypes related to Blepharospasm according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-4 9.47 PANK2
2 Decreased viability GR00249-S 9.47 ATP1A3 SGCE TOR2A
3 Decreased viability GR00301-A 9.47 PANK2 TAF1L
4 Decreased viability GR00342-S-2 9.47 TAF1L
5 Decreased viability GR00381-A-1 9.47 GCH1
6 Decreased viability GR00386-A-1 9.47 ANO3 ATP1A3
7 Decreased viability GR00402-S-2 9.47 ANO3 ARSG TAF1 TAF1L

MGI Mouse Phenotypes related to Blepharospasm:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.47 ARSG ATP1A3 BDNF CDIP1 CIZ1 DRD5

Drugs & Therapeutics for Blepharospasm

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

(show all 27)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 3 51-84-3 187
2 abobotulinumtoxinA Phase 3
3 Cholinergic Agents Phase 3
4 Botulinum Toxins, Type A Phase 3
5 Neurotransmitter Agents Phase 3
6 Botulinum Toxins Phase 3
7 incobotulinumtoxinA Phase 3
8 Pharmaceutical Solutions Phase 2, Phase 3
9 Epidiolex Phase 2, Phase 3
10 Anticonvulsants Phase 2, Phase 3
11
Mexiletine Approved, Investigational Phase 2 31828-71-4 4178
12 Anti-Arrhythmia Agents Phase 2
13 Sodium Channel Blockers Phase 2
14 Diuretics, Potassium Sparing Phase 2
15
Zinc Approved, Investigational 7440-66-6 32051
16
Methylprednisolone Approved, Vet_approved 83-43-2 6741
17
Prednisolone Approved, Vet_approved 50-24-8 5755
18
Prednisolone acetate Approved, Vet_approved 52-21-1
19
Methylprednisolone hemisuccinate Approved 2921-57-5
20
Prednisolone phosphate Approved, Vet_approved 302-25-0
21
Carbamazepine Approved, Investigational 298-46-4 2554
22
Prednisolone hemisuccinate Experimental 2920-86-7
23
Cortisone Experimental 53-06-5 222786
24 Zinc Supplement
25 Methylprednisolone Acetate
26 Anti-Inflammatory Agents
27 Ophthalmic Solutions

Interventional clinical trials:

(show all 42)
# Name Status NCT ID Phase Drugs
1 Comparison of Two Botulinum Type A Products in the Treatment of Blepharospasm Completed NCT00761592 Phase 4
2 Multi-center, Single Arm, Open-label, Phase IV Clinical Trial to Evaluate the Efficacy and Safety of Botulax® in Patients With Essential Blepharospasm Completed NCT03641950 Phase 4 Botulinum toxin type A
3 Multi-center, Phase Ⅳ, Single Arm, Open-label Clinical Trial to Evaluate the Efficacy and Safety of Meditoxin® in Subjects With Essential Blepharospasm Completed NCT01259557 Phase 4 Botulinum Toxin Type A
4 Pretarsal Versus Preseptal Botulinum Toxin for Patients With Eyelid Spasm: a Randomized, Triple-blind, Placebo-controlled, Cross-over Clinical Trial Completed NCT03508882 Phase 4 Botulinum Toxin Type A 100Unit/Vial (Product);Saline Solution for Injection
5 Comparison of Temporomandibular Joint Arthroscopy With Botulinum Toxin Injection Versus Placebo: a Randomized Clinical Trial Recruiting NCT04810429 Phase 4 Incobotulinumoxin A
6 Double-Blind, Randomized, Phase 3, Comparative Study of a New Botulinum Toxin Type A Versus Botox in the Treatment of Essential Blepharospasm Completed NCT00682760 Phase 3 Korean Botulinum toxin type A (KbtxA) and Botox injection
7 Prospective, Double-blind, Placebo-controlled, Randomized, Parallel-group, Multi-center Study With an Open-label Extension Period to Investigate the Efficacy and Safety of Two Different Doses of NT 201 in Botulinum Toxin Treatment-naïve Subjects With Blepharospasm Completed NCT01896895 Phase 3 IncobulinumtoxinA (Xeomin), 25 Units;IncobotulinumtoxinA (Xeomin), 12.5 Units;Placebo;IncobotulinumtoxinA (Xeomin), 35 Units
8 A Randomized, Double Blind, Multi-center, Active Drug Controlled, Phase II/III Clinical Trial to Compare the Safety and Efficacy of NABOTA Versus BOTOX in Treatment of Essential Blepharospasm Completed NCT02947815 Phase 2, Phase 3 Clostridium Botulinum Toxin Type A;Clostridium Botulinum Toxin Type A
9 Prospective, Double-blind, Placebo-controlled, Randomized, Multi-center Trial With an Open-label Extension Period to Investigate the Efficacy and Safety of incobotulinumtoxinA (Xeomin) in the Treatment of Blepharospasm Completed NCT00406367 Phase 3 incobotulinumtoxinA (Xeomin);Placebo
10 Double-blinded, Randomized, Active Control Comparative, Parallel-designed, Phase III Clinical Trial: Therapeutic Confirmatory Clinical Trial to Evaluate the Safety and Efficacy of "Hugeltox Inj." In Essential Blepharospasm Running Parallel With Phase I Study Completed NCT01791881 Phase 3 Hugeltox;Botulinum Toxin Type A(Botox®)
11 A Multicenter, Double-blind, Randomized, Parallel, Active-controlled, Phase III Study to Evaluate the Efficacy and Safety of NEURONOX® vs. BOTOX® in Patients With Essential Blepharospasm Completed NCT03216473 Phase 3 Neuronox;Botox
12 Effect of Non-psychoactive Cannabidiol as an Adjunct to Botulinum Toxin in Blepharospasm - a Prospective Double-masked Cross-over Study Enrolling by invitation NCT04423341 Phase 2, Phase 3 Cannabidiol Oral Solution [Epidiolex]
13 Phase II, Multi-centre, Randomised, Double-blind, Parallel Group, Placebo-controlled Study to Assess the Efficacy and Safety of a Single Administration, by Subcutaneous Injection, of Three Doses of Dysport (40 Units/Eye, 80 Units/Eye, and 120 Units/Eye) for the Treatment of Benign Essential Blepharospasm Completed NCT00234507 Phase 2
14 Mexiletine for the Treatment of Focal Dystonia Completed NCT00001784 Phase 2 Mexiletine
15 Blepharospasm and the Experimental Modulation of Cortical Excitability in Primary and Secondary Motor Areas. A Pilot Study. Completed NCT00411255 Phase 2
16 A Study of Acetyl Hexapeptide-8 (AH8) in Treatment of Blepharospasm Completed NCT00942851 Phase 1, Phase 2 Acetyl-Hexapeptide Topical Treatment;placebo
17 Prospective, Open-label, Single-arm, Single-center Trial to Investigate the Tolerability of NT 201 and Quality of Life of Patients in the Treatment of Blepharospasm With Shortened Injection Intervals Terminated NCT00507637 Phase 2 NT 201
18 Placebo Controlled Double Blind Study of Acetyl Hexapeptide-8 in Treatment of Blepharospasm Terminated NCT01750346 Phase 2 Topical acetyl hexapeptide-8;Placebo
19 Comparison of Different Botulinum Toxin A Injection Patterns in the Treatment of Blepharospasm Unknown status NCT02327728 Botulinum toxin A 12.5U;Botulinum toxin A 10U
20 The Effect of Zinc Supplementation on the Efficacy and Duration of Botulinum Toxin for the Treatment of Oculofacial Spasm Disorders Unknown status NCT01546805 Zinc Supplement;Sugar pill
21 A Randomised Controlled Trial to Explore the Effectiveness and Cost-effectiveness of a Patient-initiated Botulinum Toxin Treatment Model for Blepharospasm and Hemifacial Spasm Compared to Treatment as Usual Unknown status NCT02577224
22 Effect of Two Different Surgical Methods on the Prognosis of Patients With Blepharospasm Unknown status NCT02765113 Early Phase 1
23 Subthalamic Nucleus (STN) Deep Brain Stimulation (DBS) in Patients With Dystonia Completed NCT00773604
24 Blepharospasm Patient Survey: A Structured Interview Evaluating Previous and Current incobotulinumtoxinA, abobotulinumtoxinA and onabotulinumtoxinA Treatment for Patients With Blepharospasm Completed NCT01686061
25 Role of the Cortical Medial Frontal Areas in Blepharospasm Completed NCT00500799
26 MDs on Botox Utility (MOBILITY) Completed NCT00535938
27 Diagnostic and Rating Tools for Blepharospasm Completed NCT02780336
28 Combined Effects of rTMS and Botulinum Toxin in Benign Essential Blepharospasm: A Novel Approach Completed NCT02370875
29 A Post Marketing Surveillance Study of Dysport Formulated With a Batch of Bulk Active Substance From a New Primary Manufacturing Facility at the Centre for Applied Microbiology & Research (CAMR) Completed NCT00210431
30 Clinical Trial of a Mechanical Device for the Treatment of Blepharospasm Completed NCT03269123
31 Prospective, Observational Trial Evaluating Xeomin®(incobotulinumtoxinA) for Cervical Dystonia or Blepharospasm in the United States Completed NCT01287247
32 A Retrospective Chart Review of BOTOX® and Xeomin® for the Management of Cervical Dystonia and Blepharospasm Completed NCT02245958
33 A Retrospective Chart Review of BOTOX® and Xeomin® for the Treatment of Cervical Dystonia and Blepharospasm Completed NCT01814774
34 Analyse de la Marche de Patients Atteints de Dystonie Focale Avant et après Traitement Par Toxine Botulique Recruiting NCT03938363 Botulinum Toxin injection
35 Botulinum Toxin A Versus Steroids for the Treatment of Chronic Plantar Fasciitis: a Randomized Controlled Study Recruiting NCT02196155 Botulinum toxin A;cortisone;Saline
36 The Role of the Upper Colliculus in the Idiopathic Blepharospasm : a Pilot Study in Functional MRI Recruiting NCT03903341
37 Effect of Lipid Based Eye Drops on Tear Film Lipid Layer Thickness in Subjects With Dry Eye Disease, Meibomian Gland Dysfunction, Blepharospasm and Healthy Subjects - a Pilot Study Recruiting NCT03399292 Cationorm MD sine eye drops
38 HLA Screening in Reducing the Risk of Antiepileptic Drug-induced Cutaneous Adverse Reactions: a Multicenter Clinical Study Recruiting NCT03184597
39 A Comparative Study of GPI's DBS and Pallidotomy in the Treatment of Meige Syndrome Active, not recruiting NCT04618887
40 Study of the Photic Blink Reflex in Patients With Blepharospasm and Increased Blinking Terminated NCT03263000
41 Suppression and Facilitation of the Motor Cortex by Stimulation of the Cerebellum in Patients With Dystonia and Healthy Controls Terminated NCT00487383
42 The Influence of Gaze Shift and Emotions on Symptoms of Blepharospasm- a Pilot Study. Withdrawn NCT01759745

Search NIH Clinical Center for Blepharospasm

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Botulinum Toxin Type A
Cyproheptadine
Cyproheptadine hydrochloride
CYPROHEPTADINE HYDROCHLORIDE MONOHYDRATE

Cochrane evidence based reviews: blepharospasm

Genetic Tests for Blepharospasm

Genetic tests related to Blepharospasm:

# Genetic test Affiliating Genes
1 Blepharospasm 29 DRD5

Anatomical Context for Blepharospasm

MalaCards organs/tissues related to Blepharospasm:

40
Eye, Cortex, Cerebellum, Skin, Endothelial, Brain, Subthalamic Nucleus

Publications for Blepharospasm

Articles related to Blepharospasm:

(show top 50) (show all 1878)
# Title Authors PMID Year
1
Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia. 6
12700316 2003
2
Cloning of the human dopamine D5 receptor gene and identification of a highly polymorphic microsatellite for the DRD5 locus that shows tight linkage to the chromosome 4p reference marker RAF1P1. 6
8288248 1993
3
The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. 61 54
19202559 2009
4
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm. 54 61
17133500 2007
5
A polymorphism in the dopamine receptor DRD5 is associated with blepharospasm. 61 54
11781417 2002
6
Which factors impact on quality of life for adults with blepharospasm and hemifacial spasm? 61
32116098 2021
7
Botulinum toxin type-A preparations are not the same medications - clinical studies (Part 2). 61
33797748 2021
8
Comparison of botulinum toxins for treatment of movement disorders: real-world utilization and cost analysis in a national Medicare population. 61
33511895 2021
9
CACNA1B gene variants in adult-onset isolated focal dystonia. 61
33051750 2021
10
Does prospective acceptability of an intervention influence refusal to participate in a randomised controlled trial? An interview study. 61
33537506 2021
11
A novel task-specific dystonia type: Hemifacial spasm in a photographer. 61
33156408 2021
12
Tardive Blepharospasm May Respond to Bilateral Pallidal Deep Brain Stimulation. 61
33777498 2021
13
Treatment of diaphragmatic dystonia with pallidal deep brain stimulation. 61
33766969 2021
14
[Ocular thelaziosis in a dog in Germany - an autochthonous case?] 61
33588466 2021
15
Cortical neurophysiology of primary isolated dystonia and non-dystonic adults: A meta-analysis. 61
32991762 2021
16
Management of blepharospasm and blepharophimosis associated with Schwartz-Jampel syndrome. 61
33601038 2021
17
Disease course and treatment patterns in progressive supranuclear palsy: A real-world study. 61
33385754 2021
18
Disabling muscle of Riolan: A novel concept of orbicularis oculi myectomy for refractory benign essential blepharospasm. 61
33579161 2021
19
[Secondary blepharospasm, analysis and pathophysiology of blepharospasm. French translation of the article]. 61
33431190 2021
20
Polytetrafluoroethylene frontalis suspension in blepharospasm with eyelid apraxia: an effective and well-tolerated adjunct to botulinum toxin therapy. 61
32172614 2021
21
Botulinum toxin for benign essential blepharospasm: A systematic review and an algorithmic approach. 61
32654779 2021
22
Impact of Upper Eyelid Surgery on Symptom Severity and Frequency in Benign Essential Blepharospasm. 61
33423436 2021
23
Botulinum Toxin in Movement Disorders: An Update. 61
33430071 2021
24
Use of Botulinum Neurotoxin in Parkinson's Disease: A Critical Appraisal. 61
33503872 2021
25
Brain Structural Changes in Focal Dystonia-What About Task Specificity? A Multimodal MRI Study. 61
32979238 2021
26
Neuroimaging in idiopathic adult-onset focal dystonia. 61
33389253 2021
27
Voxel-Wise Brain-Wide Functional Connectivity Abnormalities in Patients with Primary Blepharospasm at Rest. 61
33505457 2021
28
Hyperhidrosis and Aesthetics. 61
32728993 2021
29
The History of Botulinum Toxins in Medicine: A Thousand Year Journey. 61
31451970 2021
30
Antibody Development in Patients Treated Long-Term With OnabotulinumtoxinA for Benign Essential Blepharospasm and Hemifacial Spasm. 61
33470741 2021
31
Long-term adherence and response to botulinum toxin in different indications. 61
33259153 2021
32
Use of Botulinum Toxin in Ophthalmology. 61
32270340 2021
33
Secondary blepharospasm, analysis and pathophysiology of blepharospasm. 61
33349487 2021
34
Surgical and Hardware Complications of Deep Brain Stimulation-A Single Surgeon Experience of 519 Cases Over 20 Years. 61
33496063 2021
35
Assessment of Extrapyramidal Symptoms Associated with Psychotropics Pharmacological Treatments, and Associated Risk Factors. 61
33719362 2021
36
Switchover study of onabotulinumtoxinA to incobotulinumtoxinA for facial dystonia. 61
32710447 2020
37
Acanthamoeba sclerokeratitis in a cat. 61
33269959 2020
38
Current diagnostic tools and management modalities of Nocardia keratitis. 61
33263838 2020
39
Validity of International Classification of Diseases Codes for Identifying Neuro-Ophthalmic Disease in Large Data Sets: A Systematic Review. 61
33197163 2020
40
Erratum to “Blepharospasm, dry eye and extractable nuclear antigen antibodies” [J. Fr. Ophtal. 43 (7) (2020) e221–5. PII: S0181-5512(20)30230-8. doi:10.1016/j.jfo.2020.06.001]. 61
33127177 2020
41
Pregabalin-associated stuttering and frequent blepharospasm: case report and review. 61
32632575 2020
42
Eye pain in the white and quiet eye. 61
33009080 2020
43
Development of a Clinical Rating Scale for the Severity of Apraxia of Eyelid Opening, Either Isolated or Associated with Blepharospasm. 61
33163566 2020
44
Botulinum toxin type A therapy for blepharospasm. 61
33211907 2020
45
Self-reported benefit and weakness after botulinum toxin in dystonia. 61
32927341 2020
46
Soft Nanomembrane Sensors and Flexible Hybrid Bioelectronics for Wireless Quantification of Blepharospasm. 61
32091988 2020
47
Treatment of cervical dystonia and blepharospasm by anodal tDCS of cerebellar hemispheres. A case report. 61
33008674 2020
48
Orofacial dystonia and asssociated bulbar symptoms in multiple system atrophy: A blinded video analysis. 61
32622521 2020
49
[Blepharospasm, dry eye and extractable nuclear antigen antibodies (French translation of the article)]. 61
32896450 2020
50
Phenotypic variance in monozygotic twins with SCA3. 61
32729243 2020

Variations for Blepharospasm

ClinVar genetic disease variations for Blepharospasm:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DRD5 DRD5, (CT/GT/GA)n Variation risk factor 16765 GRCh37:
GRCh38:

Expression for Blepharospasm

Search GEO for disease gene expression data for Blepharospasm.

Pathways for Blepharospasm

GO Terms for Blepharospasm

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

# Name GO ID Score Top Affiliating Genes
1 synaptic vesicle GO:0008021 8.8 TOR1A SNAP25 BDNF

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of blood pressure GO:0045776 9.37 GCH1 DRD5
2 RNA polymerase II preinitiation complex assembly GO:0051123 9.32 TAF1L TAF1
3 nuclear envelope organization GO:0006998 9.26 TOR1A REEP4
4 regulation of protein localization to cell surface GO:2000008 9.16 TOR1A BDNF
5 adenylate cyclase-activating dopamine receptor signaling pathway GO:0007191 8.96 GNAL DRD5
6 chaperone-mediated protein transport GO:0072321 8.62 TOR1A TIMM8A

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

# Name GO ID Score Top Affiliating Genes
1 TBP-class protein binding GO:0017025 8.96 TAF1L TAF1
2 lysine-acetylated histone binding GO:0070577 8.62 TAF1L TAF1

Sources for Blepharospasm

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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