Aliases & Classifications for Amblyopia

MalaCards integrated aliases for Amblyopia:

Name: Amblyopia 12 76 29 6 43 15 73

Classifications:



External Ids:

Disease Ontology 12 DOID:10376
ICD10 33 H53.00
ICD9CM 35 368.00
MeSH 44 D000550
NCIt 50 C118764
UMLS 73 C0002418

Summaries for Amblyopia

MedlinePlus : 43 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 strabismus, 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 Donepezil and Atropine have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and testes, and related phenotypes are cellular and nervous system

Wikipedia : 76 Amblyopia, also called lazy eye, is a disorder of sight due to the eye and brain not working well... more...

Related Diseases for Amblyopia

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

(show top 50) (show all 142)
# Related Disease Score Top Affiliating Genes
1 ametropic amblyopia 34.0 CHN1 DPT
2 strabismus 32.4 CHN1 GALC PLA2G16 SOBP TUBB3
3 esotropia 32.2 PLA2G16 SOBP TFAP2A TUBB3 OPTN CHN1
4 duane retraction syndrome 2 32.0 CHN1 MAFB
5 microphthalmia, isolated 6 31.9 MFRP PRSS56
6 duane syndrome type 2 31.8 CHN1 MAFB
7 anisometropia 30.9 CHN1 DPT DSE OPTN
8 congenital ptosis 30.6 CHN1 TUBB3
9 accommodative esotropia 30.6 CHN1 PLA2G16
10 aniseikonia 30.3 DPT PLA2G16
11 exotropia 30.2 CHN1 TUBB3
12 pathologic nystagmus 29.9 GALC TFAP2A TUBB3
13 suppression amblyopia 12.4
14 disuse amblyopia 12.3
15 mental and growth retardation with amblyopia 12.0
16 astigmatism 11.3
17 hemifacial hyperplasia with strabismus 11.3
18 isolated ectopia lentis 11.3
19 farsightedness 11.3
20 duane retraction syndrome 1 11.1
21 cerulean cataract 11.1
22 aniridia 1 10.9
23 aniridia and absent patella 10.9
24 cataract 41 10.9
25 fibrosis of extraocular muscles, congenital, 1 10.9
26 bornholm eye disease 10.9
27 fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement 10.9
28 corneal dystrophy, congenital stromal 10.9
29 mental retardation, anterior maxillary protrusion, and strabismus 10.9
30 cognitive impairment with or without cerebellar ataxia 10.9
31 duane retraction syndrome 3 with or without deafness 10.9
32 aniridia 2 10.9
33 paralytic squint 10.9
34 isolated duane retraction syndrome 10.9
35 refractive error 10.5
36 ptosis 10.4
37 mechanical strabismus 10.4
38 myopia 10.3
39 enophthalmos 10.3 CHN1 TFAP2A
40 marcus gunn phenomenon 10.2 CHN1 TUBB3
41 ocular dominance 10.2
42 cataract 10.2
43 duane retraction syndrome 10.2 CHN1 MAFB TUBB3
44 lacrimal duct defect 10.2
45 hypotropia 10.2 CHN1 OPTN TUBB3
46 acute closed-angle glaucoma 10.2 MFRP OPTN
47 peripheral nervous system disease 10.2 CHN1 MFRP TUBB3
48 theileriasis 10.2 MAFB SIRPA
49 monocular esotropia 10.2
50 orbital disease 10.2 CHN1 TFAP2A

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.96 A1CF CACNA1F CHN1 GALC GRIN1 MAFB
2 nervous system MP:0003631 9.77 A1CF CACNA1F CHN1 GALC GRIN1 MAFB
3 hearing/vestibular/ear MP:0005377 9.7 GRIN1 MAFB SCN8A SIRPA SOBP TFAP2A
4 vision/eye MP:0005391 9.28 CACNA1F DPT GALC GRIN1 MFRP PRSS56

Drugs & Therapeutics for Amblyopia

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

(show top 50) (show all 67)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Donepezil Approved Phase 4,Phase 1 120014-06-4 3152
2
Atropine Approved, Vet_approved Phase 4,Phase 3 51-55-8, 5908-99-6 174174
3
Brinzolamide Approved Phase 4 138890-62-7 68844
4 Ophthalmic Solutions Phase 4
5 Pharmaceutical Solutions Phase 4
6 Nootropic Agents Phase 4,Phase 1
7 Cholinergic Agents Phase 4,Phase 3,Phase 1
8 Cholinesterase Inhibitors Phase 4,Phase 1
9 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
10 Anti-Asthmatic Agents Phase 4,Phase 3
11 Bronchodilator Agents Phase 4,Phase 3
12 Adjuvants, Anesthesia Phase 4,Phase 3
13 Parasympatholytics Phase 4,Phase 3
14 Anesthetics Phase 4,Phase 3,Not Applicable
15 Cholinergic Antagonists Phase 4,Phase 3
16 Mydriatics Phase 4,Phase 3,Phase 2
17 Respiratory System Agents Phase 4,Phase 3
18 Peripheral Nervous System Agents Phase 4,Phase 3,Not Applicable
19 Autonomic Agents Phase 4,Phase 3,Not Applicable
20 Muscarinic Antagonists Phase 4,Phase 3
21 Anti-Arrhythmia Agents Phase 4,Phase 3
22 Carbonic Anhydrase Inhibitors Phase 4
23
Levodopa Approved Phase 3,Phase 2 59-92-7 6047
24
Dopamine Approved Phase 3,Phase 2,Not Applicable 51-61-6, 62-31-7 681
25
Carbidopa Approved Phase 3,Phase 2 28860-95-9 34359 38101
26 Dopamine Agents Phase 3,Phase 2,Not Applicable
27 Aromatic Amino Acid Decarboxylase Inhibitors Phase 3,Phase 2
28 Antiparkinson Agents Phase 3,Phase 2
29 Central Nervous System Stimulants Phase 1, Phase 2,Not Applicable
30 Omega 3 Fatty Acid Phase 1, Phase 2
31
Calcium Carbonate Approved, Investigational 471-34-1
32 Tomato Approved Not Applicable
33
Methamphetamine Approved, Illicit Not Applicable 537-46-2 10836
34
Melphalan Approved Not Applicable 148-82-3 4053 460612
35
Mechlorethamine Approved, Investigational Not Applicable 51-75-2 4033
36
Glucosamine Approved, Investigational Not Applicable 3416-24-8 439213
37
Dipivefrin Approved Not Applicable 52365-63-6 3105
38
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
39
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Not Applicable 59-43-8, 70-16-6 1130
40 Antihypertensive Agents
41 Sympathomimetics Not Applicable
42 Dopamine Uptake Inhibitors Not Applicable
43 Neurotransmitter Uptake Inhibitors Not Applicable
44 Adrenergic Agents Not Applicable
45 Curare
46 Anti-Inflammatory Agents Not Applicable
47 alanine Not Applicable
48 Immunosuppressive Agents Not Applicable
49 Immunologic Factors Not Applicable
50 Nitrogen Mustard Compounds Not Applicable

Interventional clinical trials:

(show top 50) (show all 114)
# Name Status NCT ID Phase Drugs
1 Combining Donepezil With Perceptual Learning in Normal and Amblyopic Human The Effect of Donepezil on Perceptual Learning in Adult Amblyopia Completed NCT03109314 Phase 4 Donepezil
2 Trial Comparing Daily Atropine Versus Weekend Atropine Completed NCT00094614 Phase 4 Atropine
3 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
4 Vision In Preschoolers Study (VIP Study) Unknown status NCT00038753 Phase 3
5 Levodopa for the Treatment of Residual Amblyopia Completed NCT01190813 Phase 3 Levodopa/Carbidopa;Placebo
6 Increasing Patching for Amblyopia in Children 3 to < 8 Years Old Completed NCT00945100 Phase 3
7 Augmenting Atropine Treatment for Amblyopia in Children 3 to < 8 Years Old Completed NCT00944710 Phase 3 Atropine;Atropine
8 Full-time Bangerter Filters Versus Part-time Daily Patching for Moderate Amblyopia in Children Completed NCT00525174 Phase 3
9 Trial Comparing Atropine to Atropine Plus a Plano Lens for the Sound Eye for Amblyopia in Children 3 to <7 Years Old Completed NCT00315302 Phase 3 Atropine
10 Trial Comparing Patching Versus Atropine for Amblyopia in 7 to < 13 Year Olds Completed NCT00315328 Phase 3 Atropine
11 Occlusion Versus Pharmacologic Therapy for Moderate Amblyopia Completed NCT00000170 Phase 3 Atropine
12 An Evaluation of Treatment of Amblyopia in Children 7 To <18 Years Old Completed NCT00094692 Phase 3 atropine
13 Trial Comparing Near Versus Distance Activities While Patching for Amblyopia in Children 3 to <7 Years Old Completed NCT00315198 Phase 3
14 Electronic Recording of Compliance With Occlusion Therapy for Amblyopia Completed NCT00131729 Phase 3
15 Trial Comparing Part-time Versus Full-time Patching for Severe Amblyopia Completed NCT00094744 Phase 3
16 Trial Comparing Part-time Versus Minimal-time Patching for Moderate Amblyopia Completed NCT00094679 Phase 3
17 Trial to Evaluate 2 Hours of Daily Patching for Amblyopia in Children Completed NCT00091923 Phase 3
18 Amblyopia (Lazy Eye) Treatment Study Completed NCT00001864 Phase 3 Atropine
19 Anisometropia Amblyopia Improved by Perceptual Learning and Patching Completed NCT00498641 Phase 3
20 Combined Patching-Atropine for Residual Amblyopia Terminated NCT00506675 Phase 3 Atropine;Atropine
21 Trial Comparing Patching With Active Vision Therapy to Patching With Control Vision Therapy as Treatment for Amblyopia Terminated NCT00587171 Phase 3
22 Effectiveness of Telescopic Magnification in the Treatment of Amblyopia Completed NCT00970554 Phase 1, Phase 2
23 Pilot Study to Evaluate Levodopa as Treatment for Residual Amblyopia Completed NCT00789672 Phase 2 levodopa/carbidopa;levodopa/carbidopa
24 Is Non-cycloplegic Photorefraction Applicable for Screening Refractive Risk Factors of Amblyopia? Completed NCT01308307 Phase 2
25 I-BiT - Evaluation of a Novel Binocular Treatment System (I-BiTTM) in Children With Amblyopia Completed NCT01702727 Phase 2
26 Comparison of Photorefraction With Cycloautorefraction and Cycloretinoscopy at Emam Hosein Medical Centre in 2008-2009 Completed NCT00815581 Phase 1, Phase 2
27 An Active Approach to Treat Amblyopia: Perceptual Learning and Video Games Recruiting NCT01115283 Phase 1, Phase 2
28 Docosahexaenoic Acid (DHA) Supplementation in Amblyopia Not yet recruiting NCT03402789 Phase 1, Phase 2 Docosahexaenoic Acid;Placebo Oral Tablet
29 Caffeine in Amblyopia Study Withdrawn NCT02594358 Phase 1, Phase 2 Caffeine
30 Patching for Lazy Eye: Trial to Evaluate Daily Patching Amounts Completed NCT00274664 Phase 1
31 Visual Cortex Stimulation in Patients With Amblyopia Completed NCT00097162 Phase 1
32 Monovision for the Treatment of Diplopia Completed NCT01426672 Phase 1
33 Treatment of Residual Amblyopia With Donepezil Recruiting NCT01584076 Phase 1 Donepezil
34 Dichoptic Virtual Reality Therapy for Amblyopia in Adults Terminated NCT02246556 Phase 1
35 Vision Screening for the Detection of Amblyopia Unknown status NCT01430247 Not Applicable
36 Determining the Efficacy of Full-time Occlusion Therapy in Severe Amblyopia at Different Ages Unknown status NCT02113709 Not Applicable
37 The Use of Interactive Binocular Treatment (I-BiT) for the Management of Anisometropic, Strabismic and Mixed Amblyopia in Children Aged 3.5 - 12 Years Unknown status NCT02810847 Not Applicable
38 The Role of Interactive Binocular Treatment System in Amblyopia Therapy Unknown status NCT02740725 Not Applicable
39 New Pediatric Patching Method to Improve Compliance Unknown status NCT02236351 Not Applicable
40 Towards Worldwide Comparability of Visual Acuity Assessment Unknown status NCT01312662
41 Different Glaucoma Treatments Effect on Intraocular Pressure Fluctuation With Postural Change in Eyes With Open-angle Glaucoma Unknown status NCT02868502
42 Standard Amblyopia Therapy in Adult Amblyopes Completed NCT03341780
43 Prospective Evaluation of a Smartphone Application, GoCheckKids™, to Detect Amblyopia Risk Factors in Young Children Completed NCT03447171
44 Observational Study of Optical Correction for Strabismic Amblyopia in Children 3 to <7 Years Old Completed NCT00669539
45 An Active Approach to Treat Amblyopia: Video Game Play Completed NCT01223716 Not Applicable
46 Study of Binocular Computer Activities for Treatment of Amblyopia Completed NCT02200211 Not Applicable
47 Efficacy of Over-glasses Patch Treatment for Amblyopia in Children : OPTA Study Completed NCT03080285 Not Applicable
48 Amblyopia and Strabismus Detection Using a Pediatric Vision Scanner Completed NCT01726842
49 Thickness of Retinal Layers in Amblyopia Completed NCT01179763
50 Multimodal Physician Intervention to Detect Amblyopia Completed NCT01109459 Not Applicable

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:

41
Eye, Brain, Testes, Cortex, Retina, Endothelial, Pituitary

Publications for Amblyopia

Articles related to Amblyopia:

(show top 50) (show all 1176)
# Title Authors Year
1
Comparison of the Thickness and Volume of the Macula and Fovea in Patients with Anisometropic Amblyopia Prior to and after Occlusion Therapy. ( 29376222 )
2018
2
Effectiveness of the GoCheck Kids Vision Screener in Detecting Amblyopia Risk Factors. ( 29305313 )
2018
3
Screening of Primary School Children for Amblyopia and Amblyogenic Factors in Central Cairo, Egypt. ( 29850217 )
2018
4
Classification and diversity of amblyopia. ( 29905124 )
2018
5
Concluding remarks on the Lasker/IRRF initiative on amblyopia. ( 29905120 )
2018
6
Effectiveness of a Binocular Video Game vs Placebo Video Game for Improving Visual Functions in Older Children, Teenagers, and Adults With Amblyopia: A Randomized Clinical Trial. ( 29302694 )
2018
7
Evaluation of the Effects of the Occlu-Pad for the Management of Anisometropic Amblyopia in Children. ( 29451999 )
2018
8
Treatment of amblyopia: Part 2. ( 29436888 )
2018
9
Amblyopia, Strabismus and Refractive Errors in Congenital Ptosis: a systematic review and meta-analysis. ( 29844360 )
2018
10
Amblyopia: New molecular/pharmacological and environmental approaches. ( 29905118 )
2018
11
New advances in amblyopia therapy II: refractive therapies. ( 29871968 )
2018
12
Treatment of amblyopia: Part 3 Apparatus, exercise equipment and games (continued). ( 29952715 )
2018
13
Multiple-Choice Answer Form Completion Time in Children With Amblyopia and Strabismus. ( 29902312 )
2018
14
Treatment of amblyopia as a function of age. ( 29905125 )
2018
15
Lessons From Recent Randomized Clinical Trials of Binocular Treatment for Amblyopia. ( 29302679 )
2018
16
Distinct Circuits for Recovery of Eye Dominance and Acuity in Murine Amblyopia. ( 29887305 )
2018
17
Performance of Photoscreener in Detection of Refractive Error in All Age Groups and Amblyopia Risk Factors in Children in a Tribal District of Odisha: The Tribal Odisha Eye Disease Study (TOES) # 3. ( 29881649 )
2018
18
Optimal Audiovisual Integration in the Ventriloquism Effect But Pervasive Deficits in Unisensory Spatial Localization in Amblyopia. ( 29332124 )
2018
19
Amblyopia in High Accommodative Convergence/Accommodation Ratio Accommodative Esotropia. Influence of Bifocals on Treatment Outcome. ( 29729255 )
2018
20
Community outreach: An indicator for assessment of prevalence of amblyopia. ( 29941736 )
2018
21
Amblyopia: The clinician's view. ( 29905115 )
2018
22
Smartphone Applications for Amblyopia Treatment: A Review of Current Apps and Professional Involvement. ( 29346038 )
2018
23
Critical periods in amblyopia. ( 29905116 )
2018
24
Animal models of amblyopia. ( 29905121 )
2018
25
Early diagnosis of amblyopia. ( 29905128 )
2018
26
Factors influencing stereopsis in patients with both refractive accommodative esotropia and amblyopia. ( 29704131 )
2018
27
Amblyopia: The Thalamus Is a No-Go Area for Visual Acuity. ( 29920266 )
2018
28
Straatsma syndrome: Satisfactory amblyopia treatment. Report of two cases. ( 29398227 )
2018
29
Cortical correlates of amblyopia. ( 29905122 )
2018
30
Amblyopia Preferred Practice Pattern®. ( 29108744 )
2018
31
Practice Patterns in the Management of Amblyopia: A Survey Study. ( 29131912 )
2018
32
P300-based acuity estimation in imitated amblyopia. ( 29134296 )
2018
33
Treating amblyopia in adults with prosthetic occluding contact lenses. ( 29152910 )
2018
34
Refractive Status and Amblyopia Risk Factors in Chinese Children with Autism Spectrum Disorder. ( 29170942 )
2018
35
Contrast-balanced binocular treatment in children with deprivation amblyopia. ( 29193320 )
2018
36
A Randomized Trial of a Binocular iPad Game Versus Part-Time Patching in Children Aged 13 to 16 Years With Amblyopia. ( 29196184 )
2018
37
Comparison between over-glasses patching and adhesive patching for children with moderate amblyopia: a prospective randomized clinical trial. ( 29204689 )
2018
38
The burden of pure anisometropic amblyopia: a cross-sectional study on 2800 Iranians. ( 29236204 )
2018
39
Optical treatment of amblyopia: a systematic review and meta-analysis. ( 29392811 )
2018
40
The functional impact of amblyopia. ( 29484704 )
2018
41
A pragmatic approach to amblyopia diagnosis: evidence into practice. ( 29484709 )
2018
42
Spatial summation across the visual field in strabismic and anisometropic amblyopia. ( 29497120 )
2018
43
Visual Acuity Improvement in Continuous vs Divided Occlusion in Anisometropic Amblyopia. ( 29515681 )
2018
44
Visual impairment and amblyopia in Malaysian pre-school children - The SEGPAEDS study. ( 29531199 )
2018
45
High-Definition Optical Coherence Tomography of the Macula in Deprivational Amblyopia. ( 29554388 )
2018
46
Home use of binocular dichoptic video content device for treatment of amblyopia: a pilot study. ( 29555515 )
2018
47
Binocular benefits of optical treatment in anisometropic amblyopia. ( 29614155 )
2018
48
Improved Binocular Outcomes Following Binocular Treatment for Childhood Amblyopia. ( 29625442 )
2018
49
Detection of Amblyopia Using Sweep VEP Vernier and Grating Acuity. ( 29625467 )
2018
50
Comparison between Amblyopia Treatment with Glasses Only and Combination of Glasses and Open-Type Binocular "Occlu-Pad" Device. ( 29670895 )
2018

Variations for Amblyopia

ClinVar genetic disease variations for Amblyopia:

6 (show all 17)
# Gene Variation Type Significance SNP ID Assembly Location
1 TSEN54 NM_207346.2(TSEN54): c.919G> T (p.Ala307Ser) single nucleotide variant Pathogenic/Likely pathogenic rs113994152 GRCh37 Chromosome 17, 73518081: 73518081
2 TSEN54 NM_207346.2(TSEN54): c.919G> T (p.Ala307Ser) single nucleotide variant Pathogenic/Likely pathogenic rs113994152 GRCh38 Chromosome 17, 75522000: 75522000
3 USH2A NM_206933.2(USH2A): c.14027A> G (p.Gln4676Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs397517987 GRCh37 Chromosome 1, 215844420: 215844420
4 SLC9A6 NM_001042537.1(SLC9A6): c.1346C> A (p.Ala449Glu) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 136016754: 136016754
5 SLC9A6 NM_001042537.1(SLC9A6): c.1346C> A (p.Ala449Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 135098913: 135098913
6 TFAP2A NM_003220.2(TFAP2A): c.1037_1038delAA (p.Lys346Argfs) deletion Pathogenic GRCh38 Chromosome 6, 10398693: 10398694
7 TFAP2A NM_003220.2(TFAP2A): c.1037_1038delAA (p.Lys346Argfs) deletion Pathogenic GRCh37 Chromosome 6, 10398926: 10398927
8 CACNA1F NM_005183.3(CACNA1F): c.694A> T (p.Lys232Ter) single nucleotide variant Likely pathogenic rs1057518829 GRCh38 Chromosome X, 49230343: 49230343
9 CACNA1F NM_005183.3(CACNA1F): c.694A> T (p.Lys232Ter) single nucleotide variant Likely pathogenic rs1057518829 GRCh37 Chromosome X, 49086805: 49086805
10 USH2A NM_206933.2(USH2A): c.1966G> A (p.Asp656Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs146824138 GRCh38 Chromosome 1, 216289285: 216289285
11 USH2A NM_206933.2(USH2A): c.1966G> A (p.Asp656Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs146824138 GRCh37 Chromosome 1, 216462627: 216462627
12 USH2A NM_206933.2(USH2A): c.14027A> G (p.Gln4676Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs397517987 GRCh38 Chromosome 1, 215671078: 215671078
13 GFOD1; MCUR1; NOL7; PHACTR1; RANBP9; RNF182; SIRT5; TBC1D7 GRCh37/hg19 6p24.1-23(chr6: 12536624-13968949) copy number gain Uncertain significance GRCh37 Chromosome 6, 12536624: 13968949
14 GALC NM_000153.3(GALC): c.196G> A (p.Ala66Thr) single nucleotide variant Likely pathogenic rs1057518843 GRCh37 Chromosome 14, 88454867: 88454867
15 GALC NM_000153.3(GALC): c.196G> A (p.Ala66Thr) single nucleotide variant Likely pathogenic rs1057518843 GRCh38 Chromosome 14, 87988523: 87988523
16 GALC NM_000153.3(GALC): c.850G> A (p.Gly284Ser) single nucleotide variant Pathogenic/Likely pathogenic rs377274761 GRCh37 Chromosome 14, 88434737: 88434737
17 GALC NM_000153.3(GALC): c.850G> A (p.Gly284Ser) single nucleotide variant Pathogenic/Likely pathogenic rs377274761 GRCh38 Chromosome 14, 87968393: 87968393

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 11.63 FBXO7 GRIN1 OPTN SCN8A TFAP2A TUBB3

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 9.16 CHN1 GRIN1
2 sensory perception of sound GO:0007605 9.13 SOBP TFAP2A USH2A
3 inner ear morphogenesis GO:0042472 8.8 MAFB SOBP TFAP2A

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 CACNA1F GRIN1 SCN8A

Sources for Amblyopia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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