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
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 275)
# Related Disease Score Top Affiliating Genes
1 ametropic amblyopia 34.8 DSE CYLC1
2 suppression amblyopia 34.8 PLAAT3 DSE
3 disuse amblyopia 34.4 PLAAT3 CRYAA
4 astigmatism 33.0 DSE CYLC1 CRYAA CACNA1F
5 strabismus 33.0 TUBB3 SOBP PLAAT3 GALC DSE CYLC1
6 paralytic squint 33.0 PLAAT3 CHN1
7 esotropia 33.0 TFAP2A SOBP PLAAT3 DSE CYLC1 CRYAA
8 duane retraction syndrome 2 32.7 MAFB CHN1
9 aniridia 1 32.3 OTX2 GCNT2 CRYAA
10 anisometropia 32.1 PLAAT3 GCNT2 DSE CYLC1 A1CF
11 exotropia 31.6 PLAAT3 CYLC1 CRYAA CHN1
12 accommodative esotropia 31.5 PLAAT3 CHN1
13 cycloplegia 31.4 DSE CYLC1
14 pathologic nystagmus 31.4 USH2A TFAP2A GCNT2 GALC CRYAA CACNA1F
15 aniseikonia 31.4 PLAAT3 DSE
16 ocular motility disease 31.0 PLAAT3 CRYAA CHN1
17 hypotropia 31.0 PLAAT3 CHN1
18 achromatopsia 30.9 USH2A CRYAA CACNA1F
19 lacrimal duct obstruction 30.6 TFAP2A GCNT2
20 coloboma of macula 30.3 TFAP2A OTX2 GCNT2 CRYAA
21 mental and growth retardation with amblyopia 12.2
22 farsightedness 11.6
23 duane retraction syndrome 1 11.5
24 peters-plus syndrome 11.4
25 hemifacial hyperplasia with strabismus 11.4
26 isolated ectopia lentis 11.4
27 microphthalmia 11.4
28 mechanical strabismus 11.2
29 blepharophimosis, ptosis, and epicanthus inversus 11.2
30 corneal dystrophy, congenital stromal 11.2
31 bestrophinopathy, autosomal recessive 11.2
32 microphthalmia, isolated 6 11.2
33 cerulean cataract 11.2
34 aniridia and absent patella 11.1
35 cataract 41 11.1
36 fibrosis of extraocular muscles, congenital, 1 11.1
37 bornholm eye disease 11.1
38 fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement 11.1
39 mental retardation, anterior maxillary protrusion, and strabismus 11.1
40 cognitive impairment with or without cerebellar ataxia 11.1
41 duane retraction syndrome 3 with or without deafness 11.1
42 aniridia 2 11.1
43 catifa syndrome 11.1
44 cataract microcornea syndrome 11.1
45 hivep2-related intellectual disability 11.1
46 isolated duane retraction syndrome 11.1
47 refractive error 11.0
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 10.15 A1CF CACNA1F CHN1 GALC GCNT2 GRIN1
2 cellular MP:0005384 10.1 A1CF CACNA1F CHN1 GALC GRIN1 LYNX1
3 nervous system MP:0003631 9.97 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 9.23 CACNA1F GALC GRIN1 OTX2 PRSS56 SCN8A

Drugs & Therapeutics for Amblyopia

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

(show top 50) (show all 107)
# 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 5908-99-6, 51-55-8 174174
3
Donepezil Approved Phase 4 120014-06-4 3152
4
Brinzolamide Approved Phase 4 138890-62-7 68844
5
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
6
Nepafenac Approved, Investigational Phase 4 78281-72-8 151075
7
Cefpirome Approved Phase 4 84957-29-9 5479539
8
Norgestimate Approved, Investigational Phase 4 35189-28-7 6540478
9
Moxifloxacin Approved, Investigational Phase 4 151096-09-2, 354812-41-2 152946
10
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
11
Polyestradiol phosphate Approved Phase 4 28014-46-2
12
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
13
Sotalol Approved Phase 4 959-24-0, 3930-20-9 5253
14 Mydriatics Phase 4
15 Adjuvants, Anesthesia Phase 4
16 Anti-Asthmatic Agents Phase 4
17 Respiratory System Agents Phase 4
18 Muscarinic Antagonists Phase 4
19 Bronchodilator Agents Phase 4
20 Cholinergic Antagonists Phase 4
21 Parasympatholytics Phase 4
22 Nootropic Agents Phase 4
23 Cholinesterase Inhibitors Phase 4
24 Ophthalmic Solutions Phase 4
25 Anti-Inflammatory Agents Phase 4
26 Carbonic Anhydrase Inhibitors Phase 4
27 Anti-Inflammatory Agents, Non-Steroidal Phase 4
28 Analgesics, Non-Narcotic Phase 4
29 Cyclooxygenase Inhibitors Phase 4
30 Ketorolac Tromethamine Phase 4
31 Antirheumatic Agents Phase 4
32 Analgesics Phase 4
33 Anti-Infective Agents Phase 4
34 Cephalosporins Phase 4
35 Contraceptive Agents Phase 4
36 Norgestimate, ethinyl estradiol drug combination Phase 4
37 Estradiol 17 beta-cypionate Phase 4
38 Antibiotics, Antitubercular Phase 4
39 Contraceptives, Oral, Combined Phase 4
40 Anti-Bacterial Agents Phase 4
41 Topoisomerase Inhibitors Phase 4
42 Contraceptives, Oral Phase 4
43 Estradiol 3-benzoate Phase 4
44 Autonomic Agents Phase 4
45 Sodium Channel Blockers Phase 4
46 Diuretics, Potassium Sparing Phase 4
47 Sympatholytics Phase 4
48
Levodopa Approved Phase 3 59-92-7 6047
49
Carbidopa Approved Phase 3 28860-95-9 34359
50
Acetaminophen Approved Phase 2, Phase 3 103-90-2 1983

Interventional clinical trials:

(show top 50) (show all 154)
# 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 Mini-flared Kelman Tip and Reverse Tip With Torsional Phaco: Prospective Randomized Comparative Study Completed NCT02089698 Phase 4
5 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
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 Pilot and Feasibility Study to Determine if a Common Atrial Fibrillation Risk Locus Modulates Differential Response to Antiarrhythmic Drugs 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 Amblyopia Treatment Study: Occlusion Versus Pharmacologic Therapy for Moderate Amblyopia Completed NCT00000170 Phase 3 Atropine
20 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
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 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
47 Recovery From Amblyopia With Cholinesterase Inhibitors Recruiting NCT01584076 Phase 1 Donepezil
48 Dichoptic Virtual Reality Therapy for Amblyopia in Adults Terminated NCT02246556 Phase 1
49 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
50 Early Vision Screening With Automated Photorefraction in Pre-term, Low-birth- Weight and Development-delay Children in Far-Eastern Memorial Hospital, Taiwan Unknown status NCT02678468

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 7035)
# Title Authors PMID Year
1
Smartphone use in ophthalmology: What is their place in clinical practice? 61
31541618 2020
2
Outcomes of surgery in patients with sensory exotropia. 61
31836297 2020
3
Plusoptix photoscreener use for paediatric vision screening in Flanders and Iran. 61
31197950 2020
4
National consensus statement regarding pediatric eye examination, refraction, and amblyopia management. 61
31957721 2020
5
Refractive Errors and Amblyopia Among Children Screened by the UCLA Preschool Vision Program in Los Angeles County. 61
31647932 2020
6
Binocular Treatment of Amblyopia: A Report by the American Academy of Ophthalmology. 61
31619356 2020
7
Visual Outcomes in Presumed Congenital Foveal Toxoplasmosis. 61
32035830 2020
8
Colour vision testing in young children with reduced visual acuity. 61
31469512 2020
9
Spontaneous regression of congenital corneal opacity. 61
31768679 2020
10
Visual improvement in amblyopic eye following treatment-induced vision loss in dominant eye with uveal melanoma. 61
31097438 2020
11
Comparison of photoscreening and autorefractive screening for the detection of amblyopia risk factors in children under 3 years of age. 61
31926368 2020
12
Positive predictive value and screening performance of GoCheck Kids in a primary care university clinic. 61
31940501 2020
13
Comparison of Retinal Vascular Structure in Eyes With and Without Amblyopia by Optical Coherence Tomography Angiography. 61
31972041 2020
14
Ophthalmic Pathology in the Offspring of Pregnant Women with Gestational Diabetes Mellitus. 61
31997119 2020
15
Effectiveness of the iPhone GoCheck Kids smartphone vision screener in detecting amblyopia risk factors. 61
31904429 2020
16
Surgical Intervention of Periocular Infantile Hemangiomas in the Era of β-Blockers. 61
31809485 2020
17
Severe reverse amblyopia with atropine penalization. 61
31953022 2020
18
Multifocal electroretinography in amblyopia. 61
31900648 2020
19
[An amblyopia revealing extended fibers in myelin]. 61
31973974 2020
20
Systematic Evaluation of Levodopa Effect on Visual Improvement in Amblyopia: A Meta-analysis. 61
31738189 2020
21
Effectiveness of combined dichoptic therapy, binocular vision therapy, and part-time patching for the management of amblyopia in adults. 61
31856546 2020
22
Stereoacuity Improvement using Random-Dot Video Games. 61
32009644 2020
23
Anterior lamellar keratoplasty for the management of a central dermoid tumour in a baby. 61
31735598 2020
24
Amblyopia Risk Factors in Newborns With Congenital Nasolacrimal Duct Obstruction. 61
31972039 2020
25
Sensory Eye Dominance: Relationship Between Eye and Brain. 61
32021530 2020
26
Long-term Monocular Deprivation during Juvenile Critical Period Disrupts Binocular Integration in Mouse Visual Thalamus. 61
31767678 2020
27
Two-Year Outcomes of Infants with Stage 2 or Higher Retinopathy of Prematurity: Results from a Large Multicenter Registry. 61
31480086 2020
28
Altered functional interactions between neurons in primary visual cortex of macaque monkeys with experimental amblyopia. 61
31553685 2019
29
Ophthalmologic disorders and risk factors in children with autism spectrum disorder. 61
31676470 2019
30
Amblyopia: Detection and Treatment. 61
31845774 2019
31
Non-invasive current stimulation in vision recovery: a review of the literature. 61
31884495 2019
32
Evidence-based clinical practice guidelines for the periodic eye examination in children aged 0-5 years in Canada. 61
31767160 2019
33
The practise of paediatric optometry in a low-resource environment. 61
31852024 2019
34
Efficacy of toric intraocular lens implantation with high corneal astigmatism within the United Kingdom's National Health Service. 61
31844167 2019
35
[Treatment monitoring and innovations in amblyopia treatment]. 61
31552468 2019
36
Long-term functional outcomes of different subtypes of primary congenital glaucoma. 61
31871047 2019
37
Comparison between patching and interactive binocular treatment in amblyopia: A randomized clinical trial. 61
31844795 2019
38
Analysis of Macular Vessel Density and Foveal Avascular Zone in Adults with Amblyopia. 61
31283893 2019
39
Understanding the development of amblyopia using macaque monkey models. 61
31871163 2019
40
Infantile simple dacryops: clinicopathological correlation and immunocharacterization. 61
31821863 2019
41
[Vision screening in children: Review of the literature]. 61
31733915 2019
42
Quality of life and mental health in amblyopic children treated with and without occlusion therapy. 61
31678257 2019
43
Homeostatic regulation of perisynaptic matrix metalloproteinase 9 (MMP9) activity in the amblyopic visual cortex. 61
31868167 2019
44
The impact of vision screening in preschool children on visual function in the Swedish adult population. 61
31127702 2019
45
Evaluation of Pupillary Light Reflex in Amblyopic Eyes Using Dynamic Pupillometry 61
31893585 2019
46
Children with congenital and childhood cataract require frequent follow-up visits and examinations in general anaesthesia: considerations for the strain on families. 61
30860655 2019
47
Optical Coherence Tomography Normative Peripapillary Retinal Nerve Fiber Layer and Macular Data in Children 0-5 Years of Age. 61
31271744 2019
48
Current Management of Childhood Amblyopia. 61
31833253 2019
49
Visual outcome and surgical results in children with Marfan syndrome. 61
31325202 2019
50
Associations between Attention-Deficit/Hyperactivity Disorder and Ocular Abnormalities in Children: A Population-based Study. 61
31878821 2019

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_206933.3(USH2A):c.14027A>G (p.Gln4676Arg)SNV Conflicting interpretations of pathogenicity 48425 rs397517987 1:215844420-215844420 1:215671078-215671078
7 USH2A NM_206933.3(USH2A):c.1966G>A (p.Asp656Asn)SNV Conflicting interpretations of pathogenicity 48481 rs146824138 1:216462627-216462627 1:216289285-216289285
8 SLC9A6 NM_001042537.1(SLC9A6):c.1346C>A (p.Ala449Glu)SNV Uncertain significance 523398 rs1556619324 X:135098913-135098913 X:136016754-136016754
9 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

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 sensory perception of sound GO:0007605 9.33 USH2A TFAP2A SOBP
2 regulation of axonogenesis GO:0050770 8.96 GRIN1 CHN1
3 inner ear morphogenesis GO:0042472 8.8 TFAP2A SOBP MAFB

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

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 8.8 SCN8A GRIN1 CACNA1F

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
Content
Loading form....