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 duane retraction syndrome 2 and duane syndrome type 2, and has symptoms including other specified visual disturbances, photophobia and visual disturbance. An important gene associated with Amblyopia is TFAP2A (Transcription Factor AP-2 Alpha), and among its related pathways/superpathways is Neuroscience. The drugs Atropine and Brinzolamide have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and testes, and related phenotypes are behavior/neurological and cellular

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 133)
# Related Disease Score Top Affiliating Genes
1 duane retraction syndrome 2 32.5 CHN1 MAFB
2 duane syndrome type 2 32.3 CHN1 MAFB
3 strabismus 32.1 CHN1 GALC SOBP TUBB3
4 microphthalmia, isolated 6 31.7 MFRP PRSS56
5 paralytic squint 31.7 CHN1 TUBB3
6 congenital ptosis 30.9 CHN1 TUBB3
7 exotropia 30.7 CHN1 TUBB3
8 anisometropia 30.7 CHN1 OPTN
9 esotropia 30.4 CHN1 OPTN SOBP TFAP2A TUBB3
10 hypertropia 30.3 CHN1 TUBB3
11 ametropic amblyopia 12.3
12 suppression amblyopia 12.2
13 disuse amblyopia 12.1
14 mental and growth retardation with amblyopia 11.9
15 astigmatism 11.1
16 duane retraction syndrome 1 10.9
17 cerulean cataract 10.9
18 aniridia 1 10.7
19 aniridia and absent patella 10.7
20 cataract 41 10.7
21 fibrosis of extraocular muscles, congenital, 1 10.7
22 hemifacial hyperplasia with strabismus 10.7
23 albinism, oculocutaneous, type ii 10.7
24 albinism, oculocutaneous, type iii 10.7
25 bornholm eye disease 10.7
26 fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement 10.7
27 corneal dystrophy, congenital stromal 10.7
28 mental retardation, anterior maxillary protrusion, and strabismus 10.7
29 cognitive impairment with or without cerebellar ataxia 10.7
30 duane retraction syndrome 3 with or without deafness 10.7
31 aniridia 2 10.7
32 ocular albinism 10.7
33 isolated ectopia lentis 10.7
34 albinism 10.7
35 hypomelanotic disorder 10.7
36 morning glory syndrome 10.7
37 isolated duane retraction syndrome 10.7
38 marcus gunn phenomenon 10.7 CHN1 TUBB3
39 deafness, autosomal dominant 28 10.5 CHN1 TUBB3
40 enophthalmos 10.5 CHN1 TFAP2A
41 poland syndrome 10.5 CHN1 TUBB3
42 duane retraction syndrome 10.5 CHN1 MAFB TUBB3
43 tukel syndrome 10.4 CHN1 TUBB3
44 orbital disease 10.4 CHN1 TFAP2A
45 aging 10.4
46 retinitis 10.3
47 theileriasis 10.3 MAFB SIRPA
48 refractive error 10.3
49 ocular motility disease 10.2 CHN1 TUBB3
50 myopia 10.2

Graphical network of the top 20 diseases related to Amblyopia:



Diseases related to Amblyopia

Symptoms & Phenotypes for Amblyopia

UMLS symptoms related to Amblyopia:


other specified visual disturbances, photophobia, visual disturbance

MGI Mouse Phenotypes related to Amblyopia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.92 CHN1 GALC GRIN1 MAFB SCN8A SIRPA
2 cellular MP:0005384 9.86 TUBB3 CACNA1F CHN1 GALC GRIN1 MAFB
3 nervous system MP:0003631 9.7 CACNA1F CHN1 GALC GRIN1 MAFB MFRP
4 hearing/vestibular/ear MP:0005377 9.63 GRIN1 MAFB SCN8A SIRPA SOBP TFAP2A
5 vision/eye MP:0005391 9.17 CACNA1F GALC GRIN1 MFRP PRSS56 SCN8A

Drugs & Therapeutics for Amblyopia

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

(show top 50) (show all 61)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Atropine Approved, Vet_approved Phase 4,Phase 3 5908-99-6, 51-55-8 174174
2
Brinzolamide Approved Phase 4 138890-62-7 68844
3
Donepezil Approved Phase 4,Phase 1 120014-06-4 3152
4 Adjuvants, Anesthesia Phase 4,Phase 3
5 Anesthetics Phase 4,Phase 3,Not Applicable
6 Anti-Arrhythmia Agents Phase 4,Phase 3
7 Anti-Asthmatic Agents Phase 4,Phase 3
8 Autonomic Agents Phase 4,Phase 3,Not Applicable
9 Bronchodilator Agents Phase 4,Phase 3
10 Cholinergic Agents Phase 4,Phase 3,Phase 1
11 Cholinergic Antagonists Phase 4,Phase 3
12 Muscarinic Antagonists Phase 4,Phase 3
13 Mydriatics Phase 4,Phase 3,Phase 2
14 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
15 Parasympatholytics Phase 4,Phase 3
16 Peripheral Nervous System Agents Phase 4,Phase 3,Not Applicable
17 Respiratory System Agents Phase 4,Phase 3
18 Carbonic Anhydrase Inhibitors Phase 4
19 Ophthalmic Solutions Phase 4
20 Pharmaceutical Solutions Phase 4
21 Tetrahydrozoline Phase 4
22 Cholinesterase Inhibitors Phase 4,Phase 1
23 Nootropic Agents Phase 4,Phase 1
24
Carbidopa Approved Phase 3,Phase 2 28860-95-9 34359 38101
25
Dopamine Approved Phase 3,Phase 2,Not Applicable 51-61-6, 62-31-7 681
26
Levodopa Approved Phase 3,Phase 2 59-92-7 6047
27 Antiparkinson Agents Phase 3,Phase 2
28 Aromatic Amino Acid Decarboxylase Inhibitors Phase 3,Phase 2
29 Dopamine Agents Phase 3,Phase 2,Not Applicable
30 Central Nervous System Stimulants Phase 1, Phase 2,Not Applicable
31 Omega 3 Fatty Acid Nutraceutical Phase 1, Phase 2
32
Calcium Carbonate Approved, Investigational 471-34-1
33
Methamphetamine Approved, Illicit Not Applicable 537-46-2 10836
34
Mechlorethamine Approved, Investigational Not Applicable 51-75-2 4033
35
Melphalan Approved Not Applicable 148-82-3 4053 460612
36
Dipivefrin Approved Not Applicable 52365-63-6 3105
37
Ephedrine Approved 299-42-3 9294
38
Pseudoephedrine Approved 90-82-4 7028
39 Tomato Approved, Nutraceutical Not Applicable
40
Glucosamine Approved, Investigational, Nutraceutical Not Applicable 3416-24-8 439213
41 Adrenergic Agents Not Applicable
42 Dopamine Uptake Inhibitors Not Applicable
43 Neurotransmitter Uptake Inhibitors Not Applicable
44 Curare
45 Anti-Inflammatory Agents Not Applicable
46 Anticoagulants Not Applicable
47 Antimetabolites Not Applicable
48 Fibrinolytic Agents Not Applicable
49 Glucuronyl glucosamine glycan sulfate Not Applicable
50 Hypoglycemic Agents Not Applicable

Interventional clinical trials:

(show top 50) (show all 103)
# Name Status NCT ID Phase Drugs
1 Trial Comparing Daily Atropine Versus Weekend Atropine Completed NCT00094614 Phase 4 Atropine
2 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
3 Combining Donepezil With Perceptual Learning in Normal and Amblyopic Human The Effect of Donepezil on Perceptual Learning in Adult Amblyopia Recruiting NCT03109314 Phase 4 Donepezil
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 Standard Amblyopia Therapy in Adult Amblyopes Completed NCT03341780
42 Observational Study of Optical Correction for Strabismic Amblyopia in Children 3 to <7 Years Old Completed NCT00669539
43 An Active Approach to Treat Amblyopia: Video Game Play Completed NCT01223716 Not Applicable
44 Efficacy of Over-glasses Patch Treatment for Amblyopia in Children : OPTA Study Completed NCT03080285 Not Applicable
45 Amblyopia and Strabismus Detection Using a Pediatric Vision Scanner Completed NCT01726842
46 Thickness of Retinal Layers in Amblyopia Completed NCT01179763
47 Multimodal Physician Intervention to Detect Amblyopia Completed NCT01109459 Not Applicable
48 Study of Binocular Computer Activities for Treatment of Amblyopia Completed NCT02200211 Not Applicable
49 Assessment of Device for Treatment of Amblyopia Completed NCT02003235 Not Applicable
50 Bilateral Refractive Amblyopia Treatment Study Completed NCT00305955

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, Pituitary, Thalamus

Publications for Amblyopia

Articles related to Amblyopia:

(show top 50) (show all 806)
# 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
Temporal Ventriloquism Reveals Intact Audiovisual Temporal Integration in Amblyopia. ( 29392305 )
2018
5
Classification and diversity of amblyopia. ( 29905124 )
2018
6
Concluding remarks on the Lasker/IRRF initiative on amblyopia. ( 29905120 )
2018
7
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
8
Evaluation of the Effects of the Occlu-Pad for the Management of Anisometropic Amblyopia in Children. ( 29451999 )
2018
9
Treatment of amblyopia: Part 2. ( 29436888 )
2018
10
Amblyopia, Strabismus and Refractive Errors in Congenital Ptosis: a systematic review and meta-analysis. ( 29844360 )
2018
11
Amblyopia: New molecular/pharmacological and environmental approaches. ( 29905118 )
2018
12
New advances in amblyopia therapy II: refractive therapies. ( 29871968 )
2018
13
Treatment of amblyopia: Part 3 Apparatus, exercise equipment and games (continued). ( 29952715 )
2018
14
Multiple-Choice Answer Form Completion Time in Children With Amblyopia and Strabismus. ( 29902312 )
2018
15
Treatment of amblyopia as a function of age. ( 29905125 )
2018
16
Optical treatment of amblyopia in older children and adults is essential prior to enrolment in a clinical trial. ( 29356022 )
2018
17
Retinothalamic White Matter Abnormalities in Amblyopia. ( 29450539 )
2018
18
PERSPECTIVE Critical periods in amblyopia-CORRIGENDUM. ( 29905127 )
2018
19
Lessons From Recent Randomized Clinical Trials of Binocular Treatment for Amblyopia. ( 29302679 )
2018
20
Distinct Circuits for Recovery of Eye Dominance and Acuity in Murine Amblyopia. ( 29887305 )
2018
21
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
22
Optimal Audiovisual Integration in the Ventriloquism Effect But Pervasive Deficits in Unisensory Spatial Localization in Amblyopia. ( 29332124 )
2018
23
Amblyopia in High Accommodative Convergence/Accommodation Ratio Accommodative Esotropia. Influence of Bifocals on Treatment Outcome. ( 29729255 )
2018
24
Community outreach: An indicator for assessment of prevalence of amblyopia. ( 29941736 )
2018
25
Amblyopia: The clinician's view. ( 29905115 )
2018
26
Smartphone Applications for Amblyopia Treatment: A Review of Current Apps and Professional Involvement. ( 29346038 )
2018
27
Critical periods in amblyopia. ( 29905116 )
2018
28
Animal models of amblyopia. ( 29905121 )
2018
29
Early diagnosis of amblyopia. ( 29905128 )
2018
30
Factors influencing stereopsis in patients with both refractive accommodative esotropia and amblyopia. ( 29704131 )
2018
31
Partial correlation analysis reveals abnormal retinotopically organized functional connectivity of visual areas in amblyopia. ( 29868445 )
2018
32
Amblyopia: The Thalamus Is a No-Go Area for Visual Acuity. ( 29920266 )
2018
33
Straatsma syndrome: Satisfactory amblyopia treatment. Report of two cases. ( 29398227 )
2018
34
Cortical correlates of amblyopia. ( 29905122 )
2018
35
Optical treatment of amblyopia: a systematic review and meta-analysis. ( 29392811 )
2018
36
Moebius Syndrome with Hypoglossal Palsy, Syndactyly, Brachydactyly, and Anisometropic Amblyopia. ( 29774172 )
2018
37
Analysis of Macular and Retinal Nerve Fiber Layer Thickness in Children with Refractory Amblyopia after Femtosecond Laser-assisted Laser In situ Keratomileusis: A Retrospective Study. ( 28875960 )
2017
38
A complete investigation of monocular and binocular functions in clinically treated amblyopia. ( 28878318 )
2017
39
Amblyopia due to intermediate uveitis as the presenting symptom of Crohn's disease in a 6-year-old boy. ( 29102673 )
2017
40
Latent binocular function in amblyopia. ( 28842260 )
2017
41
Observations on the relationship between anisometropia, amblyopia and strabismus. ( 28404522 )
2017
42
Treatment of Amblyopia: Part 1. ( 29281565 )
2017
43
Advances in Amblyopia Treatment: Paradigm Shifts and Future Directions. ( 28885251 )
2017
44
Changes in choroidal blood flow and choroidal thickness after treatment in two cases of pediatric anisohypermetropic amblyopia. ( 29260115 )
2017
45
Editorial: translation of the 1955 monograph by Alfred Bangerter on the treatment of amblyopia. ( 29281567 )
2017
46
Prevalence of amblyopia and its association with refraction in Chinese preschool children aged 36-48 months. ( 28848024 )
2017
47
Effect of optical correction on subfoveal choroidal thickness in children with anisohypermetropic amblyopia. ( 29261750 )
2017
48
Neuroplasticity and amblyopia: vision at the balance point. ( 28002122 )
2017
49
Occlusion dose monitoring in amblyopia therapy: status, insights, and future directions. ( 28890077 )
2017
50
Differences in quality-of-life dimensions of Adult Strabismus Quality of Life and Amblyopia &amp;amp; Strabismus Questionnaires. ( 28555418 )
2017

Variations for Amblyopia

ClinVar genetic disease variations for Amblyopia:

6
(show all 13)
# 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 GALC NM_000153.3(GALC): c.850G> A (p.Gly284Ser) single nucleotide variant Pathogenic/Likely pathogenic rs377274761 GRCh38 Chromosome 14, 87968393: 87968393
4 GALC NM_000153.3(GALC): c.850G> A (p.Gly284Ser) single nucleotide variant Pathogenic/Likely pathogenic rs377274761 GRCh37 Chromosome 14, 88434737: 88434737
5 GALC NM_000153.3(GALC): c.196G> A (p.Ala66Thr) single nucleotide variant Likely pathogenic rs1057518843 GRCh38 Chromosome 14, 87988523: 87988523
6 GALC NM_000153.3(GALC): c.196G> A (p.Ala66Thr) single nucleotide variant Likely pathogenic rs1057518843 GRCh37 Chromosome 14, 88454867: 88454867
7 CACNA1F NM_005183.3(CACNA1F): c.694A> T (p.Lys232Ter) single nucleotide variant Likely pathogenic rs1057518829 GRCh37 Chromosome X, 49086805: 49086805
8 CACNA1F NM_005183.3(CACNA1F): c.694A> T (p.Lys232Ter) single nucleotide variant Likely pathogenic rs1057518829 GRCh38 Chromosome X, 49230343: 49230343
9 TFAP2A NM_003220.2(TFAP2A): c.1037_1038delAA (p.Lys346Argfs) deletion Pathogenic GRCh37 Chromosome 6, 10398926: 10398927
10 TFAP2A NM_003220.2(TFAP2A): c.1037_1038delAA (p.Lys346Argfs) deletion Pathogenic GRCh38 Chromosome 6, 10398693: 10398694
11 SLC9A6 NM_001042537.1(SLC9A6): c.1346C> A (p.Ala449Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 135098913: 135098913
12 SLC9A6 NM_001042537.1(SLC9A6): c.1346C> A (p.Ala449Glu) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 136016754: 136016754
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

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 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 respiratory gaseous exchange GO:0007585 9.26 GRIN1 MAFB
2 membrane depolarization during action potential GO:0086010 9.16 CACNA1F SCN8A
3 regulation of axonogenesis GO:0050770 8.96 CHN1 GRIN1
4 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 9.13 CACNA1F GRIN1 SCN8A
2 cation channel activity GO:0005261 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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