Aliases & Classifications for Amblyopia

MalaCards integrated aliases for Amblyopia:

Name: Amblyopia 12 74 29 6 42 15 71

Classifications:



External Ids:

Disease Ontology 12 DOID:10376
ICD9CM 34 368.00
MeSH 43 D000550
NCIt 49 C118764
SNOMED-CT 67 387742006
ICD10 32 H53.00
UMLS 71 C0002418

Summaries for Amblyopia

MedlinePlus : 42 Amblyopia, or "lazy eye," is the most common cause of visual impairment in children. It happens when an eye fails to work properly with the brain. The eye may look normal, but the brain favors the other eye. In some cases, it can affect both eyes. Causes include Strabismus - a disorder in which the two eyes don't line up in the same direction Refractive error in an eye - when one eye cannot focus as well as the other, because of a problem with its shape. This includes nearsightedness, farsightedness, and astigmatism. Cataract - a clouding in the lens of the eye It can be hard to diagnose amblyopia. It is often found during a routine vision exam. Treatment for amblyopia forces the child to use the eye with weaker vision. There are two common ways to do this. One is to have the child wear a patch over the good eye for several hours each day, over a number of weeks to months. The other is with eye drops that temporarily blur vision. Each day, the child gets a drop of a drug called atropine in the stronger eye. It is also sometimes necessary to treat the underlying cause. This could include glasses or surgery. NIH: National Eye Institute

MalaCards based summary : Amblyopia is related to ametropic amblyopia and suppression amblyopia, and has symptoms including photophobia, other specified visual disturbances and visual disturbance. An important gene associated with Amblyopia is GALC (Galactosylceramidase), and among its related pathways/superpathways is Neuroscience. The drugs Tropicamide and Atropine have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and brain, and related phenotypes are behavior/neurological and cellular

Wikipedia : 74 Amblyopia, also called lazy eye, is a disorder of sight in which the brain fails to process inputs from... more...

Related Diseases for Amblyopia

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

(show top 50) (show all 277)
# Related Disease Score Top Affiliating Genes
1 ametropic amblyopia 34.9 DSE CYLC1
2 suppression amblyopia 34.8 PLAAT3 DSE A1CF
3 disuse amblyopia 34.5 PLAAT3 CRYAA
4 strabismus 33.1 TUBB3 SOBP PLAAT3 GALC DSE CYLC1
5 astigmatism 33.1 DSE CYLC1 CRYAA CACNA1F
6 esotropia 33.0 TFAP2A SOBP PLAAT3 DSE CYLC1 CRYAA
7 duane retraction syndrome 2 32.8 MAFB CHN1
8 anisometropia 32.2 PLAAT3 DSE CYLC1 CRYAA A1CF
9 exotropia 31.7 PLAAT3 CYLC1 CRYAA CHN1
10 pathologic nystagmus 31.6 USH2A TFAP2A GALC CRYAA CACNA1F
11 accommodative esotropia 31.5 PLAAT3 CHN1
12 cycloplegia 31.5 DSE CYLC1
13 eye disease 31.4 USH2A PRODH OTX2 CRYAA CACNA1F
14 aniseikonia 31.4 PLAAT3 DSE
15 ocular motility disease 31.0 PLAAT3 CRYAA CHN1
16 hypotropia 31.0 PLAAT3 CHN1
17 achromatopsia 31.0 USH2A CRYAA CACNA1F
18 mental and growth retardation with amblyopia 12.2
19 farsightedness 11.6
20 duane retraction syndrome 1 11.6
21 microphthalmia 11.4
22 peters-plus syndrome 11.4
23 hemifacial hyperplasia with strabismus 11.4
24 isolated ectopia lentis 11.4
25 paralytic squint 11.4
26 mechanical strabismus 11.2
27 blepharophimosis, ptosis, and epicanthus inversus 11.2
28 corneal dystrophy, congenital stromal 11.2
29 bestrophinopathy, autosomal recessive 11.2
30 microphthalmia, isolated 6 11.2
31 cerulean cataract 11.2
32 aniridia 1 11.1
33 aniridia and absent patella 11.1
34 cataract 41 11.1
35 fibrosis of extraocular muscles, congenital, 1 11.1
36 bornholm eye disease 11.1
37 fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement 11.1
38 mental retardation, anterior maxillary protrusion, and strabismus 11.1
39 cognitive impairment with or without cerebellar ataxia 11.1
40 duane retraction syndrome 3 with or without deafness 11.1
41 aniridia 2 11.1
42 catifa syndrome 11.1
43 cataract microcornea syndrome 11.1
44 hivep2-related intellectual disability 11.1
45 isolated duane retraction syndrome 11.1
46 refractive error 11.0
47 joint laxity, short stature, and myopia 10.8
48 myopia 10.8
49 monocular esotropia 10.8
50 cataract 10.7

Graphical network of the top 20 diseases related to Amblyopia:



Diseases related to Amblyopia

Symptoms & Phenotypes for Amblyopia

UMLS symptoms related to Amblyopia:


photophobia, other specified visual disturbances, visual disturbance

MGI Mouse Phenotypes related to Amblyopia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.18 A1CF CACNA1F CHN1 GALC GRIN1 LYNX1
2 cellular MP:0005384 10.1 A1CF CACNA1F CHN1 GALC GRIN1 LYNX1
3 nervous system MP:0003631 10 A1CF CACNA1F CHN1 GALC GRIN1 LYNX1
4 hearing/vestibular/ear MP:0005377 9.8 GRIN1 MAFB OTX2 SCN8A SOBP TFAP2A
5 respiratory system MP:0005388 9.5 A1CF GRIN1 MAFB OTX2 SCN8A TFAP2A
6 vision/eye MP:0005391 9.28 CACNA1F CHN1 GALC GRIN1 OTX2 PRSS56

Drugs & Therapeutics for Amblyopia

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

(show top 50) (show all 90)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tropicamide Approved, Investigational Phase 4 1508-75-4 5593
2
Atropine Approved, Vet_approved Phase 4 51-55-8, 5908-99-6 174174
3
Donepezil Approved Phase 4 120014-06-4 3152
4
Brinzolamide Approved Phase 4 138890-62-7 68844
5
Ketorolac Approved Phase 4 66635-83-4, 74103-06-3 3826
6
Nepafenac Approved, Investigational Phase 4 78281-72-8 151075
7
Cefpirome Approved Phase 4 84957-29-9 5479539
8
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
9
Sotalol Approved Phase 4 3930-20-9, 959-24-0 5253
10 Mydriatics Phase 4
11 Respiratory System Agents Phase 4
12 Parasympatholytics Phase 4
13 Anti-Asthmatic Agents Phase 4
14 Muscarinic Antagonists Phase 4
15 Cholinergic Antagonists Phase 4
16 Bronchodilator Agents Phase 4
17 Cholinesterase Inhibitors Phase 4
18 Ophthalmic Solutions Phase 4
19 Anti-Inflammatory Agents Phase 4
20 Carbonic Anhydrase Inhibitors Phase 4
21 Ketorolac Tromethamine Phase 4
22 Analgesics, Non-Narcotic Phase 4
23 Analgesics Phase 4
24 Cyclooxygenase Inhibitors Phase 4
25 Antirheumatic Agents Phase 4
26 Anti-Inflammatory Agents, Non-Steroidal Phase 4
27 Anti-Infective Agents Phase 4
28 Anti-Bacterial Agents Phase 4
29 Norgestimate, ethinyl estradiol drug combination Phase 4
30 Antibiotics, Antitubercular Phase 4
31 Sodium Channel Blockers Phase 4
32 Sympatholytics Phase 4
33 Diuretics, Potassium Sparing Phase 4
34
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
35
Levodopa Approved Phase 3 59-92-7 6047
36
Carbidopa Approved Phase 3 28860-95-9 34359
37
Acetazolamide Approved, Vet_approved Phase 2, Phase 3 59-66-5 1986
38
Acetaminophen Approved Phase 2, Phase 3 103-90-2 1983
39
Ibuprofen Approved Phase 2, Phase 3 15687-27-1 3672
40
Naproxen Approved, Vet_approved Phase 2, Phase 3 22204-53-1 1302 156391
41
Guaifenesin Approved, Investigational, Vet_approved Phase 2, Phase 3 93-14-1 3516
42
Codeine Approved, Illicit Phase 2, Phase 3 76-57-3 5284371
43
Aspirin Approved, Vet_approved Phase 2, Phase 3 50-78-2 2244
44 Dopamine Agents Phase 3
45 Antiparkinson Agents Phase 3
46 Aromatic Amino Acid Decarboxylase Inhibitors Phase 3
47 Antitussive Agents Phase 2, Phase 3
48 Narcotics Phase 2, Phase 3
49 Fibrinolytic Agents Phase 2, Phase 3
50 Platelet Aggregation Inhibitors Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 171)
# Name Status NCT ID Phase Drugs
1 Pilot Study of Prevention Myopia in Children With Low Concentration of Atropine Unknown status NCT00541177 Phase 4 atropine;tropicamide
2 The Effect of Donepezil on Perceptual Learning in Adult Amblyopia Completed NCT03109314 Phase 4 Donepezil
3 A Randomized Trial Comparing Daily Atropine Versus Weekend Atropine Completed NCT00094614 Phase 4 Atropine
4 Topical Brinzolamide Ophthalmic Suspension Versus Placebo in the Treatment of Infantile Nystagmus Syndrome Completed NCT01312402 Phase 4 topical brinzolamide 1% in 5mL ophthalmic medication;Placebo in 5 mL dispenser
5 Mini-flared Kelman Tip and Reverse Tip With Torsional Phaco: Prospective Randomized Comparative Study Completed NCT02089698 Phase 4
6 Comparison of Ketorolac Tromethamine 0.4% and Nepafenac 0.1% for the Prevention of Cystoid Macular Edema After Phacoemulsification: Prospective Randomized Double-masked Study Completed NCT02084576 Phase 4 Nepafenac;Ketorolac
7 Plasma and Abscess Fluid Pharmacokinetics of Cefpirome and Moxifloxacin After Single and Multiple Dose Administration Completed NCT00280514 Phase 4 cefpirome and moxifloxacin administration
8 A Prospective, Multi-Center, Randomized, Open Label Trial to Determine if a Common Atrial Fibrillation Risk Locus Modulates Differential Response to Antiarrhythmic Drugs Not yet recruiting NCT02347111 Phase 4 Flecainide;Sotalol
9 Topical Timolol for the Treatment of Benign Vascular Periocular Lesions Withdrawn NCT01250457 Phase 4 topical Timolol
10 Clinical Evaluation of the Use of Sealed Capsule Irrigation With Sodium Chloride During Pediatric Cataract Surgery and IOL Implantation Withdrawn NCT00366613 Phase 4
11 Vision In Preschoolers Study (VIP Study) Unknown status NCT00038753 Phase 3
12 Anisometropia Amblyopia Improved by Perceptual Learning and Patching Completed NCT00498641 Phase 3
13 A Randomized Trial of Levodopa as Treatment for Residual Amblyopia (ATS 17) Completed NCT01190813 Phase 3 Levodopa/Carbidopa;Placebo
14 A Randomized Trial Comparing Part-time Versus Minimal-time Patching for Moderate Amblyopia Completed NCT00094679 Phase 3
15 Increasing Patching for Amblyopia in Children 3 to < 8 Years Old Completed NCT00945100 Phase 3
16 A Randomized Trial Comparing Near Versus Distance Activities While Patching for Amblyopia in Children 3 to <7 Years Old Completed NCT00315198 Phase 3
17 A Randomized Trial Comparing Atropine to Atropine Plus a Plano Lens for the Sound Eye As Prescribed Treatments for Amblyopia in Children 3 to <7 Years Old Completed NCT00315302 Phase 3 Atropine
18 A Randomized Trial Comparing Part-time Versus Full-time Patching for Severe Amblyopia Completed NCT00094744 Phase 3
19 Electronic Recording of Compliance With Occlusion Therapy for Amblyopia: 1 Effects of Patient Education on Compliance 2 Predictors for Non-Compliance Completed NCT00131729 Phase 3
20 Amblyopia Treatment Study: Occlusion Versus Pharmacologic Therapy for Moderate Amblyopia Completed NCT00000170 Phase 3 Atropine
21 Augmenting Atropine Treatment for Amblyopia in Children 3 to < 8 Years Old Completed NCT00944710 Phase 3 Atropine;Atropine
22 An Evaluation of Treatment of Amblyopia in 7 To <18 Year Olds Completed NCT00094692 Phase 3 atropine
23 Amblyopia Treatment Study Completed NCT00001864 Phase 3 Atropine
24 A Randomized Trial of Full-time Bangerter Filters Versus Part-time Daily Patching for the Treatment of Moderate Amblyopia in Children Completed NCT00525174 Phase 3
25 A Randomized Trial to Evaluate 2 Hours of Daily Patching for Amblyopia in Children 3 to <7 Years Old Completed NCT00091923 Phase 3
26 A Randomized Trial Comparing Patching Versus Atropine for Amblyopia in 7 to < 13 Year Olds Completed NCT00315328 Phase 3 Atropine
27 Supplemental Therapeutic Oxygen for Prethreshold Retinopathy of Prematurity Completed NCT01203436 Phase 2, Phase 3
28 A Multicenter, Double-blind, Randomized, Placebo-controlled Study of Weight-Reduction and/or Low Sodium Diet Plus Acetazolamide vs Diet Plus Placebo in Subjects With Idiopathic Intracranial Hypertension With Mild Visual Loss Completed NCT01003639 Phase 2, Phase 3 Acetazolamide;Placebo
29 A Randomized Trial Comparing Patching With Active Vision Therapy to Patching With Control Vision Therapy as Treatment for Amblyopia in Children 7 to <13 Years Old Terminated NCT00587171 Phase 3
30 A Randomized Trial to Evaluate Combined Patching-Atropine for Residual Amblyopia Terminated NCT00506675 Phase 3 Atropine;Atropine
31 A Novel Therapeutic Strategy Targeting Photoreceptor Oxidative Damage in ABCR-related Retinal Degenerations Unknown status NCT01278277 Phase 1, Phase 2
32 Is Non-cycloplegic Photorefraction Applicable for Screening Refractive Risk Factors of Amblyopia? Completed NCT01308307 Phase 2
33 A Pilot Study to Evaluate Levodopa as Treatment for Residual Amblyopia in 8 to 17 Year Olds Completed NCT00789672 Phase 2 levodopa/carbidopa;levodopa/carbidopa
34 Effectiveness of Telescopic Magnification in the Treatment of Amblyopia Completed NCT00970554 Phase 1, Phase 2
35 Evaluation and Development of a Novel Binocular Treatment (I-BiTTM) System Using Video Clips and Interactive Games to Improve Vision in Children With Amblyopia ('Lazy Eye'). Completed NCT01702727 Phase 2
36 Comparison of Photorefraction With Cycloautorefraction and Cycloretinoscopy at Emam Hosein Medical Centre in 2008-2009 Completed NCT00815581 Phase 1, Phase 2
37 Single-Dose Intravenous Inositol Pharmacokinetics in Preterm Infants Completed NCT00349726 Phase 2 Inositol lower volume;Inositol higher volume;Placebo lower volume;Placebo higher volume
38 Phase II Randomized, Double-Masked, Placebo-Controlled, Safety, Pharmacokinetic, and Dose-Ranging Study of Multiple Doses of Inositol in Premature Infants Completed NCT01030575 Phase 2 Inositol lower volume;Inositol mid-level volume;Inositol high volume;Placebo low volume
39 THOR - Tübingen Choroideremia Gene Therapy Trial Open Label Phase 2 Clinical Trial Using an Adeno-associated Viral Vector (AAV2) Encoding Rab-escort Protein 1 (REP1) Active, not recruiting NCT02671539 Phase 2
40 Pilot Study to Evaluate Docosahexaenoic Acid as Treatment for Residual Amblyopia Not yet recruiting NCT03402789 Phase 1, Phase 2 Docosahexaenoic Acid;Placebo Oral Tablet
41 Caffeine in Amblyopia Study Withdrawn NCT02594358 Phase 1, Phase 2 Caffeine
42 Randomised Occlusion Treatment of Amblyopia Study (ROTAS): Trial of Maximal Vs Substantial Doses of Occlusion to Evaluate Visual Outcome for Children With Amblyopia Completed NCT00274664 Phase 1
43 Investigation of Visual Plasticity by a Direct Current Stimulation of Occipital Cortex in Adult Amblyopia Completed NCT00097162 Phase 1
44 A Singapore Pilot Study To Evaluate The Efficacy Of A Computerized System For The Vision Improvement Of People With Low Myopia Completed NCT00348127 Phase 1
45 Monovision for Treatment of Diplopia Completed NCT01426672 Phase 1
46 A Randomized, Three-Sequence, Three-Period Crossover Study to Assess the Bioavailability and Pharmacokinetics of a Single Dose of Atropine Administered Sublingually in Healthy Adult Volunteers Completed NCT04290039 Phase 1 Atropine Sulfate Ophthalmic Solution;Atropine Sulphate Injection
47 Pilot Study To Evaluate The Efficacy Of Neurovision'S NVC™- Vision Correction Technology For The Improvement In Visual Acuity In Myopic Children And Slowing Down Of Myopia Progression Completed NCT00348218 Phase 1
48 Recovery From Amblyopia With Cholinesterase Inhibitors Recruiting NCT01584076 Phase 1 Donepezil
49 Dichoptic Virtual Reality Therapy for Amblyopia in Adults Terminated NCT02246556 Phase 1
50 Phase 1 Study of Topical Beta Blocker to Prevent the Proliferative Stage of Infantile Hemangioma Terminated NCT01434849 Phase 1 topical 0.5% Timolol maleate;Control (placebo) group

Search NIH Clinical Center for Amblyopia

Genetic Tests for Amblyopia

Genetic tests related to Amblyopia:

# Genetic test Affiliating Genes
1 Amblyopia 29

Anatomical Context for Amblyopia

MalaCards organs/tissues related to Amblyopia:

40
Eye, Testes, Brain, Cortex, Retina, Endothelial, Pituitary

Publications for Amblyopia

Articles related to Amblyopia:

(show top 50) (show all 7132)
# Title Authors PMID Year
1
Incidence of Strabismus and Amblyopia Among Children Initially Diagnosed With Pseudostrabismus Using the Optum Data Set. 42 61
31730842 2020
2
Amblyopia: Detection and Treatment. 42 61
31845774 2019
3
Current Management of Childhood Amblyopia. 61 42
31833253 2019
4
Short-term monocular deprivation reduces inter-ocular suppression of the deprived eye. 61
32460171 2020
5
Abnormal Red Reflex: Etiologies in a Pediatric Ophthalmology Population. 61
32503396 2020
6
Consecutive strabismus after infantile nystagmus syndrome surgery and potential risk factors. 61
32307586 2020
7
Quantitative analysis of macular and peripapillary microvasculature in adults with anisometropic amblyopia. 61
32200510 2020
8
Understanding the Impact of Residual Amblyopia on Functional Vision and Eye-Related Quality of Life using the PedEyeQ. 61
32511967 2020
9
Predictive factors for the perceptual learning in stereodeficient subjects. 61
32561200 2020
10
Visual Outcomes in Presumed Congenital Foveal Toxoplasmosis. 61
32035830 2020
11
Use of a new composite index to demonstrate improved stereoacuity after training on stimuli with dichoptically asymmetric contrast. 61
31735256 2020
12
Analysis of the potential impact of strabismus with and without amblyopia on visual-perceptual and visual-motor skills evaluated using TVPS-3 and VMI-6 tests. 61
32535162 2020
13
Benefit of Patching Therapy to Minimize Amblyopia After Retinoblastoma Treatment. 61
32507274 2020
14
Associations between Attention-Deficit/Hyperactivity Disorder and Ocular Abnormalities in Children: A Population-based Study. 61
31878821 2020
15
Contributing ocular comorbidity to end-of-life visual acuity in medically treated glaucoma patients, ocular hypertension and glaucoma suspect patients. 61
32494040 2020
16
Presentation, surgery and 1-year outcomes of childhood cataract surgery in Tanzania. 61
32522793 2020
17
The rare phenomenon of Marcus-Gunn jaw winking without ptosis: Report of 14 cases and review of the literature. 61
32461447 2020
18
Efficacy of toric intraocular lens implantation with high corneal astigmatism within the United Kingdom's National Health Service. 61
31844167 2020
19
Clinical safety and efficacy of a hydrophilic acrylic intraocular lens in a real-world population: a 1-year follow-up retro-prospective study. 61
32527240 2020
20
Evaluating Amblyopia Treatment Success Using the American Academy of Ophthalmology IRIS50 Measures. 61
32199623 2020
21
Femtosecond Laser-Assisted LASIK in Children With Hyperopia and Anisometropic Amblyopia: 7 Years of Follow-up. 61
32521023 2020
22
Transcranial Magnetic Stimulation in Adults With Amblyopia. 61
31453915 2020
23
VEP estimation of visual acuity: a systematic review. 61
32488810 2020
24
Activation of somatostatin interneurons by nicotinic modulator Lypd6 enhances plasticity and functional recovery in the adult mouse visual cortex. 61
32467358 2020
25
Practice Patterns in the Surgical Management of Pediatric Traumatic Cataracts. 61
32453853 2020
26
Ocular Findings in Pontine Tegmental Cap Dysplasia. 61
32398424 2020
27
Saccadic reaction time and ocular findings in phenylketonuria. 61
32450880 2020
28
Risk factors for spontaneous consecutive exotropia in children with refractive and nonrefractive accommodative esotropia. 61
32108919 2020
29
Evaluation of the Spot Vision Screener in comparison with the orthoptic examination in visual screening in 3-5 year-old schoolchildren. 61
32143821 2020
30
Evaluation of the Spot Vision Screener in School-Aged Children. 61
32453847 2020
31
Detection of Amblyogenic Refractive Error Using the Spot Vision Screener in Children. 61
32413003 2020
32
Short-term Perceptual Learning Game Does Not Improve Patching-Resistant Amblyopia in Older Children. 61
32453851 2020
33
Neuroplasticity in adult human visual cortex. 61
32092315 2020
34
Visual Acuity and Foveal Structure in Eyes with Fragmented Foveal Avascular Zones. 61
31956075 2020
35
Clinical spectrum and treatment outcomes of patients with nanophthalmos. 61
32461562 2020
36
Effect of Stimulus Orientation on Visual Function in Children with Refractive Amblyopia. 61
32392311 2020
37
Treatment of Congenital Ptosis in Infants With Associated Amblyopia Using a Frontalis Muscle Flap Eyelid Reanimation Technique. 61
32467524 2020
38
Comment on the article: multifocal electroretinography in amblyopia. 61
32232567 2020
39
Comparison of Pre-Treatment vs. Post-Treatment Retinal Vessel Density in Children with Amblyopia. 61
32412887 2020
40
Baseline and Clinical Factors Associated with Response to Amblyopia Treatment in a Randomized Clinical Trial. 61
32413002 2020
41
Efficacy of interventions for amblyopia: a systematic review and network meta-analysis. 61
32450849 2020
42
Implied Motion From Form Shows Motion Aids the Perception of Global Form in Amblyopia. 61
32460320 2020
43
Vision training with VEP biofeedback in amblyopia after the critical period. 61
32468275 2020
44
Improved adherence and treatment outcomes with an engaging, personalized digital therapeutic in amblyopia. 61
32433490 2020
45
Reply to the letter to the editor: Multifocal electroretinography in amblyopia. 61
32222829 2020
46
Prevalence, causes and risk factors of reduced VA and persistent reduced VA among preschool children in Eastern China. 61
32462748 2020
47
Deep Learning-Based Prediction of Refractive Error Using Photorefraction Images Captured by a Smartphone: Model Development and Validation Study. 61
32369035 2020
48
Intraocular Pressure Reduction After Real-world Cataract Surgery. 61
32366779 2020
49
The prevalence of refractive error and visual impairment among New Zealand children in a community with significant socioeconomic disadvantage: is current preschool vision screening effective? 61
32325466 2020
50
Wiedemann-steiner syndrome with a de novo mutation in KMT2A: A case report. 61
32311999 2020

Variations for Amblyopia

ClinVar genetic disease variations for Amblyopia:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TFAP2A NM_001032280.3(TFAP2A):c.1019_1020del (p.Lys340fs)deletion Pathogenic 523459 rs1554110735 6:10398926-10398927 6:10398693-10398694
2 TSEN54 NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)SNV Pathogenic/Likely pathogenic 2120 rs113994152 17:73518081-73518081 17:75522000-75522000
3 GALC NM_000153.4(GALC):c.850G>A (p.Gly284Ser)SNV Pathogenic/Likely pathogenic 374024 rs377274761 14:88434737-88434737 14:87968393-87968393
4 GALC NM_000153.4(GALC):c.196G>A (p.Ala66Thr)SNV Likely pathogenic 374023 rs1057518843 14:88454867-88454867 14:87988523-87988523
5 CACNA1F NM_001256789.3(CACNA1F):c.694A>T (p.Lys232Ter)SNV Likely pathogenic 374004 rs1057518829 X:49086805-49086805 X:49230343-49230343
6 USH2A NM_206933.4(USH2A):c.14027A>G (p.Gln4676Arg)SNV Conflicting interpretations of pathogenicity 48425 rs397517987 1:215844420-215844420 1:215671078-215671078
7 SLC9A6 NM_001042537.1(SLC9A6):c.1346C>A (p.Ala449Glu)SNV Uncertain significance 523398 rs1556619324 X:135098913-135098913 X:136016754-136016754
8 GFOD1 , MCUR1 , NOL7 , PHACTR1 , RANBP9 , RNF182 , SIRT5 , TBC1D7 GRCh37/hg19 6p24.1-23(chr6:12536624-13968949)copy number gain Uncertain significance 523282 6:12536624-13968949
9 USH2A NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn)SNV Likely benign 48481 rs146824138 1:216462627-216462627 1:216289285-216289285

Expression for Amblyopia

Search GEO for disease gene expression data for Amblyopia.

Pathways for Amblyopia

Pathways related to Amblyopia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.46 TUBB3 TFAP2A SCN8A GRIN1

GO Terms for Amblyopia

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

# Name GO ID Score Top Affiliating Genes
1 regulation of axonogenesis GO:0050770 8.96 GRIN1 CHN1
2 inner ear morphogenesis GO:0042472 8.8 TFAP2A SOBP MAFB

Sources for Amblyopia

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
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