Aliases & Classifications for Amblyopia

MalaCards integrated aliases for Amblyopia:

Name: Amblyopia 12 77 30 6 44 15 74

Classifications:



External Ids:

Disease Ontology 12 DOID:10376
ICD9CM 36 368.00
MeSH 45 D000550
NCIt 51 C118764
ICD10 34 H53.00
UMLS 74 C0002418

Summaries for Amblyopia

MedlinePlus : 44 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 behavior/neurological and nervous system

Wikipedia : 77 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 164)
# Related Disease Score Top Affiliating Genes
1 ametropic amblyopia 34.2 CHN1 CYLC1
2 strabismus 32.8 CHN1 GALC SOBP TUBB3
3 esotropia 32.7 CHN1 SOBP TFAP2A TUBB3
4 duane retraction syndrome 2 32.3 CHN1 MAFB
5 duane syndrome type 2 32.1 CHN1 MAFB
6 anisometropia 31.4 CHN1 DSE
7 congenital ptosis 31.0 CHN1 TUBB3
8 pathologic nystagmus 30.6 GALC TFAP2A TUBB3
9 exotropia 30.5 CHN1 TUBB3
10 peripheral nervous system disease 30.0 CHN1 MT-ND4 TUBB3
11 hypertropia 29.9 CHN1 TUBB3
12 suppression amblyopia 12.6
13 disuse amblyopia 12.3
14 mental and growth retardation with amblyopia 12.1
15 astigmatism 11.4
16 farsightedness 11.3
17 hemifacial hyperplasia with strabismus 11.3
18 isolated ectopia lentis 11.3
19 duane retraction syndrome 1 11.1
20 microphthalmia, isolated 6 11.1
21 bestrophinopathy 11.1
22 cerulean cataract 11.1
23 aniridia 1 11.0
24 aniridia and absent patella 11.0
25 cataract 41 11.0
26 fibrosis of extraocular muscles, congenital, 1 11.0
27 bornholm eye disease 11.0
28 fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement 11.0
29 corneal dystrophy, congenital stromal 11.0
30 mental retardation, anterior maxillary protrusion, and strabismus 11.0
31 cognitive impairment with or without cerebellar ataxia 11.0
32 duane retraction syndrome 3 with or without deafness 11.0
33 aniridia 2 11.0
34 paralytic squint 11.0
35 isolated duane retraction syndrome 11.0
36 mechanical strabismus 10.9
37 myopia 10.5
38 refractive error 10.5
39 cataract 10.5
40 ptosis 10.5
41 monocular esotropia 10.4
42 marcus gunn phenomenon 10.4 CHN1 TUBB3
43 enophthalmos 10.4 CHN1 TFAP2A
44 duane retraction syndrome 10.4 CHN1 MAFB TUBB3
45 orbital disease 10.3 CHN1 TFAP2A
46 theileriasis 10.3 MAFB SIRPA
47 cranial nerve disease 10.3 CHN1 MT-ND4 TUBB3
48 hypotropia 10.3 CHN1 TUBB3
49 ocular dominance 10.3
50 exposure keratitis 10.3 MT-ND4 TUBB3

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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.96 A1CF CHN1 GALC GRIN1 MAFB SCN8A
2 nervous system MP:0003631 9.77 A1CF CACNA1F CHN1 GALC GRIN1 MAFB
3 hearing/vestibular/ear MP:0005377 9.63 GRIN1 MAFB SCN8A SOBP TFAP2A USH2A
4 vision/eye MP:0005391 9.17 CACNA1F GALC GRIN1 PRSS56 SCN8A TFAP2A

Drugs & Therapeutics for Amblyopia

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

(show top 50) (show all 66)
# 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,Not Applicable 5908-99-6, 51-55-8 174174
3
Brinzolamide Approved Phase 4 138890-62-7 68844
4
Nitrofurantoin Approved, Vet_approved Phase 4 67-20-9 5353830
5 Pharmaceutical Solutions Phase 4
6 Ophthalmic Solutions Phase 4,Not Applicable
7 Cholinesterase Inhibitors Phase 4,Phase 1
8 Nootropic Agents Phase 4,Phase 1
9 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
10 Cholinergic Agents Phase 4,Phase 3,Phase 1,Not Applicable
11 Anti-Arrhythmia Agents Phase 4,Phase 3,Not Applicable
12 Peripheral Nervous System Agents Phase 4,Phase 3,Not Applicable
13 Bronchodilator Agents Phase 4,Phase 3,Not Applicable
14 Anesthetics Phase 4,Phase 3,Not Applicable
15 Parasympatholytics Phase 4,Phase 3,Not Applicable
16 Muscarinic Antagonists Phase 4,Phase 3,Not Applicable
17 Adjuvants, Anesthesia Phase 4,Phase 3,Not Applicable
18 Respiratory System Agents Phase 4,Phase 3,Not Applicable
19 Anti-Asthmatic Agents Phase 4,Phase 3,Not Applicable
20 Cholinergic Antagonists Phase 4,Phase 3,Not Applicable
21 Mydriatics Phase 4,Phase 3,Phase 2,Not Applicable
22 Autonomic Agents Phase 4,Phase 3,Not Applicable
23 Carbonic Anhydrase Inhibitors Phase 4
24 Anti-Infective Agents, Urinary Phase 4
25 Renal Agents Phase 4
26 Anti-Bacterial Agents Phase 4
27 Anti-Infective Agents Phase 4
28
Carbidopa Approved Phase 3,Phase 2 28860-95-9 34359
29
Dopamine Approved Phase 3,Phase 2,Not Applicable 62-31-7, 51-61-6 681
30
Levodopa Approved Phase 3,Phase 2 59-92-7 6047
31 Dopamine Agents Phase 3,Phase 2,Not Applicable
32 Aromatic Amino Acid Decarboxylase Inhibitors Phase 3,Phase 2
33 Antiparkinson Agents Phase 3,Phase 2
34 Central Nervous System Stimulants Phase 1, Phase 2,Not Applicable
35 Omega 3 Fatty Acid Phase 1, Phase 2
36
Calcium Carbonate Approved, Investigational 471-34-1
37
Methamphetamine Approved, Illicit Not Applicable 537-46-2 10836
38 Tomato Approved Not Applicable
39
Mechlorethamine Approved, Investigational Not Applicable 51-75-2 4033
40
Melphalan Approved Not Applicable 148-82-3 460612 4053
41
Cocaine Approved, Illicit Not Applicable 50-36-2 446220 5760
42
Dipivefrin Approved Not Applicable 52365-63-6 3105
43
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Not Applicable 70-16-6, 59-43-8 1130
44
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
45 Antihypertensive Agents
46 Dopamine Uptake Inhibitors Not Applicable
47 Neurotransmitter Uptake Inhibitors Not Applicable
48 Adrenergic Agents Not Applicable
49 Sympathomimetics Not Applicable
50 Curare

Interventional clinical trials:

(show top 50) (show all 119)
# 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 Nitrofurantoin Prophylaxis During Catheter-managed Acute Urinary Retention After Pelvic Reconstructive Surgery Completed NCT02727322 Phase 4 Nitrofurantoin;Placebo
5 Vision In Preschoolers Study (VIP Study) Unknown status NCT00038753 Phase 3
6 Levodopa for the Treatment of Residual Amblyopia Completed NCT01190813 Phase 3 Levodopa/Carbidopa;Placebo
7 Increasing Patching for Amblyopia in Children 3 to < 8 Years Old Completed NCT00945100 Phase 3
8 Augmenting Atropine Treatment for Amblyopia in Children 3 to < 8 Years Old Completed NCT00944710 Phase 3 Atropine;Atropine
9 Full-time Bangerter Filters Versus Part-time Daily Patching for Moderate Amblyopia in Children Completed NCT00525174 Phase 3
10 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
11 Trial Comparing Patching Versus Atropine for Amblyopia in 7 to < 13 Year Olds Completed NCT00315328 Phase 3 Atropine
12 Occlusion Versus Pharmacologic Therapy for Moderate Amblyopia Completed NCT00000170 Phase 3 Atropine
13 An Evaluation of Treatment of Amblyopia in Children 7 To <18 Years Old Completed NCT00094692 Phase 3 atropine
14 Trial Comparing Near Versus Distance Activities While Patching for Amblyopia in Children 3 to <7 Years Old Completed NCT00315198 Phase 3
15 Electronic Recording of Compliance With Occlusion Therapy for Amblyopia Completed NCT00131729 Phase 3
16 Trial Comparing Part-time Versus Full-time Patching for Severe Amblyopia Completed NCT00094744 Phase 3
17 Trial Comparing Part-time Versus Minimal-time Patching for Moderate Amblyopia Completed NCT00094679 Phase 3
18 Trial to Evaluate 2 Hours of Daily Patching for Amblyopia in Children Completed NCT00091923 Phase 3
19 Amblyopia (Lazy Eye) Treatment Study Completed NCT00001864 Phase 3 Atropine
20 Anisometropia Amblyopia Improved by Perceptual Learning and Patching Completed NCT00498641 Phase 3
21 Combined Patching-Atropine for Residual Amblyopia Terminated NCT00506675 Phase 3 Atropine;Atropine
22 Trial Comparing Patching With Active Vision Therapy to Patching With Control Vision Therapy as Treatment for Amblyopia Terminated NCT00587171 Phase 3
23 Effectiveness of Telescopic Magnification in the Treatment of Amblyopia Completed NCT00970554 Phase 1, Phase 2
24 Pilot Study to Evaluate Levodopa as Treatment for Residual Amblyopia Completed NCT00789672 Phase 2 levodopa/carbidopa;levodopa/carbidopa
25 Is Non-cycloplegic Photorefraction Applicable for Screening Refractive Risk Factors of Amblyopia? Completed NCT01308307 Phase 2
26 I-BiT - Evaluation of a Novel Binocular Treatment System (I-BiTTM) in Children With Amblyopia Completed NCT01702727 Phase 2
27 Comparison of Photorefraction With Cycloautorefraction and Cycloretinoscopy at Emam Hosein Medical Centre in 2008-2009 Completed NCT00815581 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 Light-deprivation Utilized to Mitigate Amblyopia Unknown status NCT02685423 Not Applicable
37 Determining the Efficacy of Full-time Occlusion Therapy in Severe Amblyopia at Different Ages Unknown status NCT02113709 Not Applicable
38 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
39 The Role of Interactive Binocular Treatment System in Amblyopia Therapy Unknown status NCT02740725 Not Applicable
40 New Pediatric Patching Method to Improve Compliance Unknown status NCT02236351 Not Applicable
41 Towards Worldwide Comparability of Visual Acuity Assessment Unknown status NCT01312662
42 Different Glaucoma Treatments Effect on Intraocular Pressure Fluctuation With Postural Change in Eyes With Open-angle Glaucoma Unknown status NCT02868502
43 Standard Amblyopia Therapy in Adult Amblyopes Completed NCT03341780
44 Prospective Evaluation of a Smartphone Application, GoCheckKids™, to Detect Amblyopia Risk Factors in Young Children Completed NCT03447171
45 Observational Study of Optical Correction for Strabismic Amblyopia in Children 3 to <7 Years Old Completed NCT00669539
46 An Active Approach to Treat Amblyopia: Video Game Play Completed NCT01223716 Not Applicable
47 Study of Binocular Computer Activities for Treatment of Amblyopia Completed NCT02200211 Not Applicable
48 Efficacy of Over-glasses Patch Treatment for Amblyopia in Children : OPTA Study Completed NCT03080285 Not Applicable
49 Amblyopia and Strabismus Detection Using a Pediatric Vision Scanner Completed NCT01726842
50 Thickness of Retinal Layers in Amblyopia Completed NCT01179763

Search NIH Clinical Center for Amblyopia

Genetic Tests for Amblyopia

Genetic tests related to Amblyopia:

# Genetic test Affiliating Genes
1 Amblyopia 30

Anatomical Context for Amblyopia

MalaCards organs/tissues related to Amblyopia:

42
Eye, Brain, Testes, Cortex, Retina, Endothelial, Whole Blood

Publications for Amblyopia

Articles related to Amblyopia:

(show top 50) (show all 2665)
# Title Authors Year
1
Reading ability of children treated for amblyopia. ( 30633876 )
2019
2
Incidence and risk of attention-deficit hyperactivity disorder in children with amblyopia: A nationwide cohort study. ( 30663207 )
2019
3
Use of log-scaled crowded visual acuity charts in clinical studies regarding amblyopia. ( 30675642 )
2019
4
The treatment of amblyopia: current practice and emerging trends. ( 30706134 )
2019
5
Evaluation of nutritional status in children with amblyopia. ( 30726406 )
2019
6
Abnormal Outer Choroidal Vasculature in Amblyopia. ( 30733871 )
2019
7
Development of a core outcome set for amblyopia, strabismus and ocular motility disorders: a review to identify outcome measures. ( 30736755 )
2019
8
Self-perception in Children Aged 3 to 7 Years With Amblyopia and Its Association With Deficits in Vision and Fine Motor Skills. ( 30763432 )
2019
9
Driver licensing and motor vehicle crash rates among young adults with amblyopia and unilateral vision impairment. ( 30769086 )
2019
10
Prevalence of amblyopia and strabismus in Hani school children in rural southwest China: a cross-sectional study. ( 30782934 )
2019
11
Aniseikonia and anisometropia: implications for suppression and amblyopia. ( 30791133 )
2019
12
Evaluation of choroidal thickness in amblyopia using optical coherence tomography. ( 30808182 )
2019
13
Analysis of Peripapillary Choroidal Thickness in Unilateral Amblyopia. ( 30820286 )
2019
14
Clarifications to Consider Regarding Multiple-Choice Answer Form Completion Time in Children With Amblyopia and Strabismus. ( 30844020 )
2019
15
Clarifications to Consider Regarding Multiple-Choice Answer Form Completion Time in Children With Amblyopia and Strabismus-Reply. ( 30844066 )
2019
16
A new counterintuitive training for adult amblyopia. ( 30847360 )
2019
17
Impaired Spatial Hearing in Amblyopia: Evidence for Calibration of Auditory Maps by Retinocollicular Input in Humans. ( 30849170 )
2019
18
Altered cortical morphology of visual cortex in adults with monocular amblyopia. ( 30854758 )
2019
19
Correction to: development of a core outcome set for amblyopia, strabismus and ocular motility disorders: a review to identify outcome measures. ( 30857536 )
2019
20
Amblyopia Risk Factors in Premature Children in the First 3 Years of Life. ( 30889262 )
2019
21
Contrast and spatial frequency modulation for diagnosis of amblyopia: An electrophysiological approach. ( 30899850 )
2019
22
Assessment of macular vascular plexus density using optical coherence tomography angiography in cases of strabismic amblyopia. ( 30900586 )
2019
23
Pediatric keratoconus misdiagnosed as meridional amblyopia. ( 30900595 )
2019
24
Treatment outcomes for amblyopia using PEDIG amblyopia protocols: a retrospective study of 877 cases. ( 30935990 )
2019
25
Late Ophthalmologic Referral of Anisometropic Amblyopia: A Retrospective Study of Different Amblyopia Subtypes. ( 30946787 )
2019
26
Functional limitations recognised by adults with amblyopia and strabismus in daily life: a qualitative exploration. ( 30957266 )
2019
27
Gap effect and express saccades generation in amblyopia. ( 30977772 )
2019
28
Comparing Three Different Contrast Sensitivity Tests in Adults and in Children with and without Amblyopia. ( 30999326 )
2019
29
Refinement of the Child Amblyopia Treatment Questionnaire (CAT-QoL) using Rasch analysis. ( 31012391 )
2019
30
Binocular treatment in adult amblyopia is based on parvocellular or magnocellular pathway. ( 31014078 )
2019
31
Inverse Occlusion: A Binocularly Motivated Treatment for Amblyopia. ( 31015829 )
2019
32
Attention deficits in Amblyopia. ( 31030000 )
2019
33
Altered brain activity in patients with strabismus and amblyopia detected by analysis of regional homogeneity: A resting‑state functional magnetic resonance imaging study. ( 31059016 )
2019
34
Binocular amblyopia treatment with contrast-rebalanced movies. ( 31103562 )
2019
35
Suprathreshold Motion Perception in Anisometropic Amblyopia: Interocular Speed Matching and the Pulfrich Effect. ( 31107841 )
2019
36
Visual acuity and amblyopia prevalence in 11- to 12-year-old Danish children from the Copenhagen Child Cohort 2000. ( 30280496 )
2019
37
Analysis of Macular Vessel Density and Foveal Avascular Zone Using Spectral-Domain Optical Coherence Tomography Angiography in Children With Amblyopia. ( 30371915 )
2019
38
Factors influencing stereopsis in patients with both refractive accommodative esotropia and amblyopia. ( 29704131 )
2018
39
Amblyopia in High Accommodative Convergence/Accommodation Ratio Accommodative Esotropia. Influence of Bifocals on Treatment Outcome. ( 29729255 )
2018
40
Comparison of two methods for measuring contrast sensitivity in anisometropic amblyopia. ( 30555968 )
2018
41
Prevalence of amblyopia and its impact on the academic performance of male medical students in Southern Saudi Arabia. ( 30581299 )
2018
42
Improvement of Adherence with Occlu-Pad Therapy for Pediatric Patients with Amblyopia. ( 30596086 )
2018
43
The burden of pure anisometropic amblyopia: a cross-sectional study on 2800 Iranians. ( 29236204 )
2018
44
Assessment of an Advanced Vision Screener in the Detection of Amblyopia in the Nebraska Pediatric Population. ( 29257184 )
2018
45
Comparison of quantitative measurement of foveal avascular zone and macular vessel density in eyes of children with amblyopia and healthy controls: an optical coherence tomography angiography study. ( 29288839 )
2018
46
Lessons From Recent Randomized Clinical Trials of Binocular Treatment for Amblyopia. ( 29302679 )
2018
47
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
48
Effectiveness of the GoCheck Kids Vision Screener in Detecting Amblyopia Risk Factors. ( 29305313 )
2018
49
Optimal Audiovisual Integration in the Ventriloquism Effect But Pervasive Deficits in Unisensory Spatial Localization in Amblyopia. ( 29332124 )
2018
50
Smartphone Applications for Amblyopia Treatment: A Review of Current Apps and Professional Involvement. ( 29346038 )
2018

Variations for Amblyopia

ClinVar genetic disease variations for Amblyopia:

6 (show all 17)
# Gene Variation Type Significance SNP ID Assembly Location
1 GALC NM_000153.3(GALC): c.196G> A (p.Ala66Thr) single nucleotide variant Likely pathogenic rs1057518843 GRCh37 Chromosome 14, 88454867: 88454867
2 CACNA1F NM_005183.3(CACNA1F): c.694A> T (p.Lys232Ter) single nucleotide variant Likely pathogenic rs1057518829 GRCh37 Chromosome X, 49086805: 49086805
3 CACNA1F NM_005183.3(CACNA1F): c.694A> T (p.Lys232Ter) single nucleotide variant Likely pathogenic rs1057518829 GRCh38 Chromosome X, 49230343: 49230343
4 TFAP2A NM_003220.2(TFAP2A): c.1037_1038delAA (p.Lys346Argfs) deletion Pathogenic rs1554110735 GRCh37 Chromosome 6, 10398926: 10398927
5 TSEN54 NM_207346.2(TSEN54): c.919G> T (p.Ala307Ser) single nucleotide variant Pathogenic/Likely pathogenic rs113994152 GRCh38 Chromosome 17, 75522000: 75522000
6 TSEN54 NM_207346.2(TSEN54): c.919G> T (p.Ala307Ser) single nucleotide variant Pathogenic/Likely pathogenic rs113994152 GRCh37 Chromosome 17, 73518081: 73518081
7 USH2A NM_206933.2(USH2A): c.14027A> G (p.Gln4676Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs397517987 GRCh38 Chromosome 1, 215671078: 215671078
8 USH2A NM_206933.2(USH2A): c.14027A> G (p.Gln4676Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs397517987 GRCh37 Chromosome 1, 215844420: 215844420
9 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
10 SLC9A6 NM_001042537.1(SLC9A6): c.1346C> A (p.Ala449Glu) single nucleotide variant Uncertain significance rs1556619324 GRCh38 Chromosome X, 136016754: 136016754
11 SLC9A6 NM_001042537.1(SLC9A6): c.1346C> A (p.Ala449Glu) single nucleotide variant Uncertain significance rs1556619324 GRCh37 Chromosome X, 135098913: 135098913
12 TFAP2A NM_003220.2(TFAP2A): c.1037_1038delAA (p.Lys346Argfs) deletion Pathogenic rs1554110735 GRCh38 Chromosome 6, 10398693: 10398694
13 GALC NM_000153.3(GALC): c.196G> A (p.Ala66Thr) single nucleotide variant Likely pathogenic rs1057518843 GRCh38 Chromosome 14, 87988523: 87988523
14 GALC NM_000153.3(GALC): c.850G> A (p.Gly284Ser) single nucleotide variant Pathogenic/Likely pathogenic rs377274761 GRCh37 Chromosome 14, 88434737: 88434737
15 GALC NM_000153.3(GALC): c.850G> A (p.Gly284Ser) single nucleotide variant Pathogenic/Likely pathogenic rs377274761 GRCh38 Chromosome 14, 87968393: 87968393
16 USH2A NM_206933.2(USH2A): c.1966G> A (p.Asp656Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs146824138 GRCh38 Chromosome 1, 216289285: 216289285
17 USH2A NM_206933.2(USH2A): c.1966G> A (p.Asp656Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs146824138 GRCh37 Chromosome 1, 216462627: 216462627

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 11.56 FBXO7 GRIN1 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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