MCID: STR020
MIFTS: 52

Strabismus

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

Aliases & Classifications for Strabismus

MalaCards integrated aliases for Strabismus:

Name: Strabismus 12 24 29 52 14 69
Susceptibility to Strabismus 29

Classifications:



External Ids:

Disease Ontology 12 DOID:540
ICD9CM 35 378.7
UMLS 69 C0029831

Summaries for Strabismus

MalaCards based summary : Strabismus, also known as susceptibility to strabismus, is related to esotropia and monofixation syndrome, and has symptoms including ophthalmoplegia, spasm of conjugate gaze and anomalies of divergence. An important gene associated with Strabismus is NALCN (Sodium Leak Channel, Non-Selective). The drugs Propofol and Sevoflurane have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and thyroid, and related phenotypes are mortality/aging and cellular

Wikipedia : 72 Strabismus, also called crossed eyes, is a condition in which the eyes do not properly align with each... more...

Related Diseases for Strabismus

Diseases in the Strabismus family:

Essential Strabismus

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

(show top 50) (show all 283)
id Related Disease Score Top Affiliating Genes
1 esotropia 33.1 CHN1 FGFR2 KIF21A TUBB3
2 monofixation syndrome 30.5 ADAT3 CHN1 TUBB3
3 abducens nerve disease 30.3 CHN1 KIF21A PHOX2A TUBB3
4 porencephaly 29.6 ECEL1 KIF21A PHOX2A TUBB3
5 mental retardation, anterior maxillary protrusion, and strabismus 12.0
6 mechanical strabismus 12.0
7 hemifacial hyperplasia with strabismus 12.0
8 ptosis, strabismus, and ectopic pupils 12.0
9 speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease 11.8
10 ptosis strabismus diastasis 11.7
11 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome 11.7
12 severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome 11.7
13 essential strabismus 11.7
14 exotropia 11.7
15 paralytic squint 11.4
16 mehes syndrome 11.3
17 white-sutton syndrome 11.2
18 fourth cranial nerve palsy, familial congenital 11.2
19 hypertropia 11.1
20 crouzon syndrome 11.1
21 amblyopia 11.0
22 mental retardation, autosomal recessive 36 11.0
23 tukel syndrome 11.0
24 retinoblastoma 11.0
25 thoracolumbosacral spina bifida cystica 11.0 VANGL1 VANGL2
26 upper thoracic spina bifida aperta 11.0 VANGL1 VANGL2
27 occipital encephalocele 10.9 VANGL1 VANGL2
28 cranial meningocele 10.9 VANGL1 VANGL2
29 myelocystocele 10.9 VANGL1 VANGL2
30 phakomatosis pigmentokeratotica 10.9 VANGL1 VANGL2
31 aldosterone-producing adenoma 10.9 FRMD7 GPR143
32 posterior meningocele 10.9 VANGL1 VANGL2
33 closed iniencephaly 10.9 VANGL1 VANGL2
34 spina bifida aperta 10.9 VANGL1 VANGL2
35 coloboma 10.9
36 total spina bifida aperta 10.9 VANGL1 VANGL2
37 oculocutaneous albinism 10.9
38 congenital toxoplasmosis 10.9
39 cyclotropia 10.9
40 hypotropia 10.9
41 brown syndrome 10.9
42 intraocular medulloepithelioma 10.8 VANGL1 VANGL2
43 intermediate maple syrup urine disease 10.8 VANGL1 VANGL2
44 krauss herman holmes syndrome 10.8
45 aphthous stomatitis 10.8 FRMD7 GPR143 TUBB3
46 oral mucosa leukoplakia 10.8 FRMD7 GPR143 TUBB3
47 arthrogryposis, distal, type 5 10.8
48 x-linked congenital stationary night blindness 10.8
49 cardiovascular cancer 10.7 HOXB1 PHOX2A TUBB3
50 mental retardation, autosomal dominant 18 10.7

Graphical network of the top 20 diseases related to Strabismus:



Diseases related to Strabismus

Symptoms & Phenotypes for Strabismus

UMLS symptoms related to Strabismus:


ophthalmoplegia, spasm of conjugate gaze, anomalies of divergence

MGI Mouse Phenotypes related to Strabismus:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10.21 GNB1 HOXB1 MCOLN1 NALCN PHOX2A PRICKLE1
2 cellular MP:0005384 10.16 CHN1 FGFR2 GNB1 HOXB1 MPP4 PHOX2A
3 nervous system MP:0003631 10.13 DHX30 ECEL1 FGFR2 GNB1 GPR143 HOXB1
4 embryo MP:0005380 10.03 DHX30 FGFR2 GNB1 HOXB1 NALCN PRICKLE1
5 hearing/vestibular/ear MP:0005377 9.88 COL9A1 FGFR2 HOXB1 PRICKLE1 VANGL1 VANGL2
6 muscle MP:0005369 9.87 ECEL1 FGFR2 HOXB1 MCOLN1 PRICKLE1 CASQ2
7 respiratory system MP:0005388 9.85 ECEL1 FGFR2 GNB1 HOXB1 NALCN PHOX2A
8 skeleton MP:0005390 9.61 CHN1 COL9A1 ECEL1 FGFR2 FRMD7 HOXB1
9 vision/eye MP:0005391 9.23 CASQ2 COL9A1 FGFR2 GPR143 MCOLN1 MPP4

Drugs & Therapeutics for Strabismus

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

(show top 50) (show all 148)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 2 2078-54-8 4943
2
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
3
Dexmedetomidine Approved, Vet_approved Phase 4 76631-46-4, 113775-47-6 68602 5311068 56032
4
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
5
Fluorometholone Approved Phase 4 426-13-1 9878
6
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
7
Rimexolone Approved Phase 4 49697-38-3 39507
8
Acetylcholine Approved Phase 4,Phase 3 51-84-3 187
9
Povidone Approved Phase 4 9003-39-8
10 Povidone-iodine Approved Phase 4 25655-41-8
11
Benzocaine Approved Phase 4 1994-09-7, 94-09-7 2337
12
Desflurane Approved Phase 4 57041-67-5 42113
13
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
14
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
15
Ketamine Approved, Vet_approved Phase 4,Phase 2 6740-88-1 3821
16
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 9552079 2713
17
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
18
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
19 tannic acid Approved, Nutraceutical Phase 4
20
Iodine Investigational Phase 4 7553-56-2 807
21 Analgesics Phase 4,Phase 1,Phase 2
22 Analgesics, Non-Narcotic Phase 4,Phase 1,Phase 2
23 Central Nervous System Depressants Phase 4,Phase 2,Phase 3
24 Hypnotics and Sedatives Phase 4,Phase 2
25 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
26 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
27 Antiemetics Phase 4
28 Anti-Inflammatory Agents Phase 4,Phase 1,Phase 2
29 Autonomic Agents Phase 4,Phase 3
30 Gastrointestinal Agents Phase 4,Phase 1,Phase 2
31 Anesthetics Phase 4,Phase 3,Phase 2
32 Anesthetics, General Phase 4,Phase 2
33 Anesthetics, Inhalation Phase 4
34 Anesthetics, Intravenous Phase 4,Phase 2
35 Platelet Aggregation Inhibitors Phase 4
36 Adrenergic Agents Phase 4
37 Adrenergic Agonists Phase 4
38 Adrenergic alpha-2 Receptor Agonists Phase 4
39 Adrenergic alpha-Agonists Phase 4
40 Pharmaceutical Solutions Phase 4
41 Anti-Allergic Agents Phase 4
42 Antineoplastic Agents, Hormonal Phase 4
43 BB 1101 Phase 4
44 Dexamethasone acetate Phase 4 1177-87-3
45 glucocorticoids Phase 4
46 HIV Protease Inhibitors Phase 4
47 Hormone Antagonists Phase 4
48 Hormones Phase 4
49 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
50 Norgestimate, ethinyl estradiol drug combination Phase 4

Interventional clinical trials:

(show top 50) (show all 123)

id Name Status NCT ID Phase Drugs
1 Efficacy of Single-Shot Dexmedetomidine Versus Placebo in Preventing Pediatric Emergence Delirium in Strabismus Surgery Completed NCT01901588 Phase 4 Dexmedetomidine
2 Ocular-hypertensive Response to Topical Steroids in Children After Bilateral Strabismus Surgery Completed NCT02816905 Phase 4 0.1 % Dexamethasone;0.1% Fluorometholone;1% Rimexolone
3 Comparison of Two Treatments for Strabismus Correction: Botulinum Toxin A Associated to Surgery and Surgery Alone Completed NCT01460355 Phase 4 Botulinum Toxin Type A;saline solution
4 Povidone-iodine Antisepsis for Strabismus Surgery Completed NCT00461656 Phase 4 Preoperative conjunctival irrigation with 5% or 1.25% PI
5 The Effect of Anaesthesia Depth on Oculo-cardiac Reflex Completed NCT02379546 Phase 4 Desflurane
6 Effects of Dexmedetomidine Premedication on Emergence Agitation After Strabismus Surgery in Children Completed NCT01895023 Phase 4 Dexmedetomidine;Midazolam;Saline
7 Intranasal Dexmedetomidine vs Midazolam-ketamine Combination for Premedication of Pediatric Patients Completed NCT02072083 Phase 4 Dexmedetomidine;Ketamine
8 Comparison of Intra Ocular Pressure After Insertion of the LMA Supreme and LMA Proseal in Pediatric Patients Recruiting NCT02508181 Phase 4
9 Propofol for Treatment on Emergence Agitation Enrolling by invitation NCT02738814 Phase 4 propofol
10 Frontalis Botulinum Toxin Not yet recruiting NCT03186001 Phase 4 Abobotulinum toxin A
11 Combined Radiotherapy and Intravenous Steroids for Early Progressive Thyroid Eye Disease Not yet recruiting NCT02339142 Phase 4 intravenous corticosteroids (methylprednisolone)
12 Vision In Preschoolers Study (VIP Study) Unknown status NCT00038753 Phase 3
13 A Trial of Bifocals in Myopic Children With Esophoria Unknown status NCT00000128 Phase 3
14 Efficacy and Safety of GSK1358820 (Botulinum Toxin Type A) in Patients With Strabismus Completed NCT01584843 Phase 3 GSK1358820
15 Effects of Prismatic Spectacle Lenses on Symptoms of Dizziness, Headache and Anxiety as Caused by Vertical Heterophoria Completed NCT00785135 Phase 3
16 Bilateral Recession or Unilateral Recession-Resection as Surgery for Infantile Esotropia Completed NCT00304577 Phase 3
17 The Prism Adaptation Study (PAS) Completed NCT00000121 Phase 3
18 Amblyopia (Lazy Eye) Treatment Study Completed NCT00001864 Phase 3 Atropine
19 Occlusion Versus Pharmacologic Therapy for Moderate Amblyopia Completed NCT00000170 Phase 3 Atropine
20 Trial to Evaluate 2 Hours of Daily Patching for Amblyopia in Children Completed NCT00091923 Phase 3
21 Evaluation of VisionQuest 20/20, a Visual Acuity Testing Software Completed NCT00366756 Phase 3
22 Orthoptic Changes Following Photorefractive Keratectomy Completed NCT01279993 Phase 3
23 An Observational Study of Infantile, Acquired Non-accommodative, and Acquired Partially-accommodative Esotropia Completed NCT00310960 Phase 3
24 Trial Comparing Patching Versus Atropine for Amblyopia in 7 to < 13 Year Olds Completed NCT00315328 Phase 3 Atropine
25 Full-time Bangerter Filters Versus Part-time Daily Patching for Moderate Amblyopia in Children Completed NCT00525174 Phase 3
26 Bupivacaine Injection of Eye Muscles to Treat Strabismus Recruiting NCT01616108 Phase 2, Phase 3 Bupivacaine
27 ASIS for Enbrel in Plaque Psoriasis Unknown status NCT02112097 Phase 1, Phase 2 Gadolinium;Gadolinium;Gadolinium;Efficacy of Enbrel subcutaneously at Week 12;Efficacy of Enbrel subcutaneously at Week 24;Efficacy of Enbrel subcutaneously at Week 36;Efficacy of Enbrel subdermally at Week 12;Efficacy of Enbrel subdermally at Week 24;Efficacy of Enbrel subdermally at Week 36;PASI 75 n(%) subcutaneously at Week 12;PASI 75 n(%) subcutaneously at Week 24;PASI 75 n(%) subcutaneously at Week 36;PASI 75 n(%) subdermally at Week 12;PASI 75 n(%) subdermally at Week 24;PASI 75 n(%) subdermally at Week 36;Adverse Reactions of Enbrel subcutaneously;Adverse Reactions of Enbrel subdermally at Week 36;Gadolinium;Gadolinium;Gadolinium
28 Does LMA Instead of ET Tube Affect Incidence of Postoperative Vomiting in Children Undergoing Strabismus Correction? Completed NCT00338559 Phase 2
29 Prevention of Complications of Eye Surgery Completed NCT00478907 Phase 2 KETAMINE, PROPOFOL, THIOPENTAL
30 Eye Muscle Surgery to Treat Congenital Nystagmus Completed NCT00001866 Phase 2
31 Grading Versus Classic Inferior Oblique Anterior Transposition in Patient With Asymmetric Dissociated Vertical Deviation Recruiting NCT03135938 Phase 1, Phase 2
32 Study of Non-surgical Treatment Versus Observation in Asian Children With Intermittent Exotropia Terminated NCT01267500 Phase 2
33 The Effect of Vision Therapy/Orthoptic on Motor & Sensory Status of the 3 to 7 Years Old Strabismic Patients Unknown status NCT00917982 Phase 1
34 Monovision for the Treatment of Diplopia Completed NCT01426672 Phase 1
35 Assessment of Fibrin Glue in Pterygium Surgery and Other Forms of External Eye Surgery Completed NCT00344201 Phase 1
36 Visual Cortex Stimulation in Patients With Amblyopia Completed NCT00097162 Phase 1
37 Dichoptic Virtual Reality Therapy for Amblyopia in Adults Terminated NCT02246556 Phase 1
38 Comparison of Propofol 1mg/kg and Propofol 0.5mg/kg for Prevention of Emergence Agitation in Children Undergoing Strabismus Surgery During Sevoflurane Anesthesia Unknown status NCT02152787 Injection of propofol 1.0mg/kg;propofol 0.5mg/kg;normal saline
39 The Effect of Remifentanil Infusion During Emergence on the Incidence of Emergence Delirium Unknown status NCT02108795 Remifentanil;Placebo
40 Surgery for Esotropia Under Topical Anesthesia Unknown status NCT00993174
41 Determining the Efficacy of Full-time Occlusion Therapy in Severe Amblyopia at Different Ages Unknown status NCT02113709
42 New Pediatric Patching Method to Improve Compliance Unknown status NCT02236351
43 The Antigagging Effect of Granisetron (Kytril), an Antiemetic Drug, in Dental Situations Unknown status NCT00502437 GRANISETRON
44 Vision Screening for the Detection of Amblyopia Unknown status NCT01430247
45 Safety and Feasibility of Using Epicall for Monitoring Pre-seizure Biomarkers Unknown status NCT01436695
46 Lateral Rectus Muscle and Anterior Segment Optical Coherence Tomography (AS-OCT) in Two Recession Surgeries Unknown status NCT02450162
47 Strabismus Measurements Using Automated 3D Video Oculography Completed NCT02228070
48 Factors Associated With Postoperative Strabismus After Floor Fracture Repair Completed NCT02736461
49 Suture Contamination Rate in Adjustable Suture Strabismus Surgery Completed NCT02424357 5%povidone iodine ophthalmic solution
50 Assessing the Functional and Psychosocial Impact of Strabismus in Asian Children Using the AS-20 and IXTQ Questionnaires Completed NCT01608828

Search NIH Clinical Center for Strabismus

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Genetic Tests for Strabismus

Genetic tests related to Strabismus:

id Genetic test Affiliating Genes
1 Susceptibility to Strabismus 29
2 Strabismus 29 24

Anatomical Context for Strabismus

MalaCards organs/tissues related to Strabismus:

39
Eye, Testes, Thyroid, Cortex, Retina, Brain, Colon

Publications for Strabismus

Articles related to Strabismus:

(show top 50) (show all 792)
id Title Authors Year
1
Endophthalmitis Following Strabismus Surgery: IPOSC Global Study. ( 28925741 )
2017
2
The Effect of Sub-Tenon's Bupivacaine on Oculocardiac Reflex during Strabismus Surgery and Postoperative Pain: A Randomized Clinical Trial. ( 28791063 )
2017
3
Pedigree Analysis of Familial Primary Concomitant Horizontal Strabismus in Northern India. ( 28796570 )
2017
4
Observations on the relationship between anisometropia, amblyopia and strabismus. ( 28404522 )
2017
5
Impact of a Strabismus Surgery Suture Course for First- and Second-Year Ophthalmology Residents. ( 28850640 )
2017
6
Identification of rare paired box 3 variant in strabismus by whole exome sequencing. ( 28861346 )
2017
7
Rectus muscle excyclorotation and V-pattern strabismus: a quantitative appraisal of clinical relevance in syndromic craniosynostosis. ( 28320694 )
2017
8
A Strabismus Syndrome Causing Chronic Innocuous Headache. ( 28927675 )
2017
9
American Insight Into Strabismus Surgery Before 1838. ( 28932129 )
2017
10
Comparison of three models of saccade disconjugacy in strabismus. ( 28904108 )
2017
11
Altered brain network centrality in patients with adult comitant exotropia strabismus: A resting-state fMRI study. ( 28679330 )
2017
12
Securing extraocular muscles in strabismus surgery: biomechanical analysis of knot-tying technique. ( 28917992 )
2017
13
Comparison of Minimally Invasive Strabismus Surgery (MISS) and Conventional Strabismus Surgery Using the Limbal Approach. ( 28820930 )
2017
14
The effect of strabismus surgery on choroidal thickness. ( 28885671 )
2017
15
Strabismus Incidence in a Danish Population-Based Cohort of Children. ( 28859196 )
2017
16
Plication as an alternative to resection in horizontal strabismus: A randomized clinical trial. ( 28905830 )
2017
17
Rate of Strabismus Detection on Digital Photographs Increases by Using Off-center Near Target. ( 28092398 )
2017
18
Ocular Causes of Abnormal Head Position: Strabismus Clinic Data. ( 28845325 )
2017
19
Long-term Visual Acuity, Strabismus and Nystagmus Outcomes Following Multimodality Treatment in Group D Retinoblastoma Eyes. ( 28501391 )
2017
20
Amblyopia and strabismus: trends in prevalence and risk factors among young adults in Israel. ( 28814414 )
2017
21
Ptosis and Strabismus Surgery Performed Simultaneously. ( 28926664 )
2017
22
Identification of 2 Potentially Relevant Gene Mutations Involved in Strabismus Using Whole-Exome Sequencing. ( 28391287 )
2017
23
Remifentanil: A help in topical strabismus surgery. ( 28830623 )
2017
24
Surgical outcomes of unilateral recession-resection for vertical strabismus in patients with thyroid eye disease. ( 28089937 )
2017
25
Herpes zoster ophthalmicus and strabismus: a unique cause of secondary Brown syndrome. ( 28625469 )
2017
26
Securing extraocular muscles in strabismus surgery: biomechanical analysis of muscle imbrication. ( 28870795 )
2017
27
Acquired Adult Onset Cyclic Esotropia in Patients With Myopic Strabismus Fixus and Intraocular Lens Implantation. ( 28692503 )
2017
28
Population-Based Incidence of Strabismus: Why Is It Important? ( 28859195 )
2017
29
Dexmedetomidine Nasal Sedation Produces More Oculocardiac Reflex During Strabismus Surgery. ( 27637022 )
2016
30
Retained strabismus suture material masquerading as nonspecific orbital inflammation. ( 27112911 )
2016
31
Awareness and Perception of Strabismus Among the Youths and Women of Child-Bearing Age in a Local Government in South Western Nigeria. ( 28027694 )
2016
32
Augmented superior rectus transposition surgery for vertical strabismus in moebius syndrome. ( 28478475 )
2016
33
Rectus Pulley Displacements without Abnormal Oblique Contractility Explain Strabismus in Superior Oblique Palsy. ( 26983977 )
2016
34
Changing Strabismus Surgery Distribution at Shanxi Province Eye Hospital in Central China. ( 27977036 )
2016
35
Strabismus of duke Sarmiento and Valladares, viceroy of New Spain. ( 27091425 )
2016
36
Efficacy of mitomycin-C and infliximab in reducing adhesionand fibrosis following strabismus surgery. ( 27966305 )
2016
37
A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm. ( 26923739 )
2016
38
Congenital and Developmental Cataracts: Focus on Strabismus Outcomes at Long-Term Follow-Up. ( 27077682 )
2016
39
Role of dexmedetomidine for sedation in a patient with schizophrenia for strabismus surgery. ( 27942062 )
2016
40
Effective treatment for prevention of post-operative adhesion after strabismus surgery in experimental rabbit model: 0.5 % tranilast ophthalmic solution. ( 27655065 )
2016
41
Does strabismus surgery improve quality and mood, and what factors influence this? ( 27126298 )
2016
42
Psychosocial interventions for improving quality of life outcomes in adults undergoing strabismus surgery. ( 27171652 )
2016
43
Accessory Extraocular Muscle as a Cause of Restrictive Strabismus. ( 27835055 )
2016
44
Extraocular Muscles Tension, Tonus, and Proprioception in Infantile Strabismus: Role of the Oculomotor System in the Pathogenesis of Infantile Strabismus-Review of the Literature. ( 27006860 )
2016
45
Evaluation of the Risk of Postoperative Infection in Adjustable Suture Strabismus Surgery. ( 27560605 )
2016
46
Orbital cellulitis and multiple abscess formation after strabismus surgery. ( 27085279 )
2016
47
Proparacaine-Induced Mydriasis During Strabismus Surgery. ( 27960641 )
2016
48
Case Report: Red Urine After Day Care Strabismus Surgery. ( 28045721 )
2016
49
Pharmacologic injection treatment of comitant strabismus. ( 27079589 )
2016
50
A modified technique for strabismus surgery in the presence of a scleral buckle. ( 27132139 )
2016

Variations for Strabismus

ClinVar genetic disease variations for Strabismus:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 NALCN NM_052867.3(NALCN): c.3390G> A (p.Pro1130=) single nucleotide variant Pathogenic rs869312873 GRCh37 Chromosome 13, 101742197: 101742197
2 GNB1 NM_002074.4(GNB1): c.284T> C (p.Leu95Pro) single nucleotide variant Pathogenic rs869312824 GRCh37 Chromosome 1, 1736004: 1736004
3 GNB1 NM_002074.4(GNB1): c.233A> G (p.Lys78Arg) single nucleotide variant Pathogenic rs869312823 GRCh38 Chromosome 1, 1806509: 1806509
4 GNB1 NM_002074.4(GNB1): c.228T> G (p.Asp76Glu) single nucleotide variant Pathogenic rs869312822 GRCh37 Chromosome 1, 1737953: 1737953
5 MPP4 NM_033066.2(MPP4): c.946T> C (p.Trp316Arg) single nucleotide variant Pathogenic rs1057519443 GRCh37 Chromosome 2, 202539978: 202539978
6 DHX30 NM_138615.2(DHX30): c.1478G> A (p.Arg493His) single nucleotide variant Pathogenic rs1057519436 GRCh37 Chromosome 3, 47888040: 47888040
7 DHX30 NM_138615.2(DHX30): c.1685A> G (p.His562Arg) single nucleotide variant Pathogenic rs1060499733 GRCh37 Chromosome 3, 47888247: 47888247

Copy number variations for Strabismus from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 195555 5 152100000 155600000 Deletion AK124699 strabismus
2 195560 5 152100000 155600000 Deletion C5ORF21 strabismus
3 195565 5 152100000 155600000 Deletion C5ORF3 strabismus
4 195570 5 152100000 155600000 Deletion GALNT10 strabismus
5 195575 5 152100000 155600000 Deletion HAND1 strabismus
6 195580 5 152100000 155600000 Deletion MFAP3 strabismus
7 195585 5 152100000 155600000 Deletion NR2F1 strabismus
8 195590 5 152100000 155600000 Deletion SAP30L strabismus

Expression for Strabismus

Search GEO for disease gene expression data for Strabismus.

Pathways for Strabismus

GO Terms for Strabismus

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

id Name GO ID Score Top Affiliating Genes
1 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.13 PRICKLE1 VANGL1 VANGL2
2 membranous septum morphogenesis GO:0003149 8.62 FGFR2 VANGL2

Sources for Strabismus

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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