MCID: MYP006
MIFTS: 56

Myopia

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Myopia

MalaCards integrated aliases for Myopia:

Name: Myopia 12 72 36 28 51 41 14 69
Short-Sightedness 12
Near-Sightedness 12
Near Vision 12

Classifications:



External Ids:

Disease Ontology 12 DOID:11830
ICD10 32 H52.1
ICD9CM 34 367.1
MeSH 41 D009216
NCIt 46 C102533
SNOMED-CT 64 155133003 57190000
KEGG 36 H02041
UMLS 69 C0027092

Summaries for Myopia

Disease Ontology : 12 A refractive error characterized by the inability to see farther objects clearly.

MalaCards based summary : Myopia, also known as short-sightedness, is related to myopia 6 and rare isolated myopia, and has symptoms including aniseikonia An important gene associated with Myopia is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways/superpathways is Degradation of the extracellular matrix. The drugs Atropine and Tropicamide have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and testes.

Wikipedia : 72 Near-sightedness, also known as short-sightedness and myopia, is a condition of the eye where light... more...

Related Diseases for Myopia

Diseases in the Myopia family:

Myopia 2, Autosomal Dominant Myopia 18, Autosomal Recessive
Myopia 3, Autosomal Dominant Myopia 17, Autosomal Dominant
Myopia 5, Autosomal Dominant Myopia 6
Myopia 7 Myopia 8
Myopia 9 Myopia 10
Myopia 11, Autosomal Dominant Myopia 12, Autosomal Dominant
Myopia 14 Myopia 16, Autosomal Dominant
Myopia 15, Autosomal Dominant Myopia 19, Autosomal Dominant
Myopia 20, Autosomal Dominant Myopia 21, Autosomal Dominant
Myopia 22, Autosomal Dominant Myopia 23, Autosomal Recessive
Myopia 24, Autosomal Dominant Myopia 25, Autosomal Dominant

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

(show top 50) (show all 290)
# Related Disease Score Top Affiliating Genes
1 myopia 6 33.9 CHD7 COL2A1 FBN1 SCO2
2 rare isolated myopia 33.6 LRPAP1 P3H2 SCO2
3 marshall syndrome 32.9 COL11A1 COL2A1
4 refractive error 32.7 LRPAP1 P4HA2 PRIMPOL SCO2 SLC39A5 ZNF644
5 kniest dysplasia 31.9 COL11A1 COL2A1 FMOD
6 lens subluxation 30.4 FBN1 P3H2
7 deafness and myopia 12.3
8 degenerative myopia 12.2
9 myopia 13, x-linked 12.2
10 myopia 12, autosomal dominant 12.2
11 myopia 15, autosomal dominant 12.2
12 myopia 10 12.1
13 polydactyly, postaxial, with progressive myopia 12.1
14 myopia 1, x-linked 12.1
15 myopia 3, autosomal dominant 12.1
16 epiphyseal dysplasia, multiple, with myopia and conductive deafness 12.1
17 myopia 21, autosomal dominant 12.1
18 myopia 17, autosomal dominant 12.1
19 myopia 2, autosomal dominant 12.1
20 myopia 23, autosomal recessive 12.1
21 myopia, high, with cataract and vitreoretinal degeneration 12.1
22 myopia 18, autosomal recessive 12.1
23 myopia 5, autosomal dominant 12.1
24 myopia 11, autosomal dominant 12.1
25 myopia 16, autosomal dominant 12.1
26 myopia 19, autosomal dominant 12.1
27 myopia 22, autosomal dominant 12.1
28 myopia 24, autosomal dominant 12.1
29 myopia 7 12.0
30 myopia 8 12.0
31 myopia 9 12.0
32 myopia 14 12.0
33 myopia 20, autosomal dominant 12.0
34 myopia 25, autosomal dominant 12.0
35 joint laxity, short stature, and myopia 12.0
36 myopia 26, x-linked, female-limited 12.0
37 aplasia cutis congenita, high myopia, and cone-rod dysfunction 11.9
38 night blindness, congenital stationary, type 1a 11.9
39 blepharoptosis, myopia, and ectopia lentis 11.8
40 sinus node disease and myopia 11.8
41 ophthalmoplegia, external, and myopia 11.8
42 spondyloepiphyseal dysplasia, myopia, and sensorineural deafness 11.8
43 dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy 11.8
44 epiphyseal dysplasia of femoral head, myopia, and deafness 11.7
45 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia 11.7
46 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye 11.7
47 aplasia cutis myopia 11.7
48 optic atrophy opthalmoplegia ptosis deafness myopia 11.7
49 autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome 11.7
50 osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome 11.7

Graphical network of the top 20 diseases related to Myopia:



Diseases related to Myopia

Symptoms & Phenotypes for Myopia

UMLS symptoms related to Myopia:


aniseikonia

Drugs & Therapeutics for Myopia

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

(show top 50) (show all 200)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Atropine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 5908-99-6, 51-55-8 174174
2
Tropicamide Approved, Investigational Phase 4,Phase 2 1508-75-4 5593
3
Iodine Approved, Investigational Phase 4 7553-56-2 807
4
Ranibizumab Approved Phase 4,Phase 3,Phase 2,Phase 1 347396-82-1 459903
5
Levofloxacin Approved, Investigational Phase 4,Phase 1,Phase 2 100986-85-4 149096
6
Ofloxacin Approved Phase 4,Phase 1,Phase 2 82419-36-1 4583
7
Bevacizumab Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 216974-75-3
8
Dipivefrin Approved Phase 4 52365-63-6 3105
9
Hydrogen peroxide Approved, Vet_approved Phase 4 7722-84-1 784
10
Nepafenac Approved, Investigational Phase 4 78281-72-8 151075
11
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
12
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
13
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
14
Povidone Approved Phase 4 9003-39-8
15
Verteporfin Approved, Investigational Phase 4,Phase 3,Phase 1 129497-78-5
16
Povidone-iodine Approved Phase 4 25655-41-8
17
Fluorometholone Approved, Investigational Phase 4 426-13-1 9878
18
Loteprednol Approved Phase 4 129260-79-3, 82034-46-6 9865442 444025
19
Bromfenac Approved July 1997 Phase 4 91714-94-2 60726
20
Lactitol Investigational Phase 4 585-86-4 3871
21 Adjuvants, Anesthesia Phase 4,Phase 2,Phase 3,Phase 1
22 Anesthetics Phase 4,Phase 2,Phase 3,Phase 1
23 Anti-Arrhythmia Agents Phase 4,Phase 2,Phase 3,Phase 1
24 Anti-Asthmatic Agents Phase 4,Phase 2,Phase 3,Phase 1
25 Autonomic Agents Phase 4,Phase 2,Phase 3,Phase 1
26 Bronchodilator Agents Phase 4,Phase 2,Phase 3,Phase 1
27 Cholinergic Agents Phase 4,Phase 2,Phase 3,Phase 1
28 Cholinergic Antagonists Phase 4,Phase 2,Phase 3,Phase 1
29 Muscarinic Antagonists Phase 4,Phase 2,Phase 3,Phase 1
30 Mydriatics Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
31 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Phase 1
32 Parasympatholytics Phase 4,Phase 2,Phase 3,Phase 1
33 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1
34 Respiratory System Agents Phase 4,Phase 2,Phase 3,Phase 1
35 Anti-Infective Agents Phase 4,Phase 1,Phase 2
36 Anti-Infective Agents, Local Phase 4,Phase 2
37 cadexomer iodine Phase 4
38 Carboxymethylcellulose Sodium Phase 4
39 Cathartics Phase 4
40 Cholinesterase Inhibitors Phase 4
41
Echothiophate Iodide Phase 4 6736-03-4 10547
42 Gastrointestinal Agents Phase 4
43 Laxatives Phase 4
44 Micronutrients Phase 4
45 Ophthalmic Solutions Phase 4,Phase 2,Phase 3,Phase 1
46 Pharmaceutical Solutions Phase 4,Phase 3,Phase 1,Phase 2
47 Trace Elements Phase 4
48 Angiogenesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
49 Angiogenesis Modulating Agents Phase 4,Phase 3,Phase 2,Phase 1
50 Alkylating Agents Phase 4,Phase 1

Interventional clinical trials:

(show top 50) (show all 620)

# Name Status NCT ID Phase Drugs
1 Study of Myopia Prevention in Children With Low Concentration of Atropine Unknown status NCT00541177 Phase 4 atropine;tropicamide
2 Echothiophate Iodide for the Prevention of Progression of Myopia Unknown status NCT02544529 Phase 4 Echothiophate Iodide 0.03% Ophthalmic Solution;Carboxymethylcellulose Sodium (0.5%)
3 Ranibizumab for Myopic Neovascularization Unknown status NCT01246089 Phase 4 ranibizumab injection
4 Aflibercept Intravitreal Injection for Myopic Choroidal Neovascularization Unknown status NCT02033018 Phase 4 Aflibercept Injection
5 A Prospective Safety and Effectiveness Study of the 500 Hz Technolas Perfect Vision Excimer Laser in Asian Eyes Using LASIK Unknown status NCT01977807 Phase 4
6 Multi Laser Platform Comparison Study for LASIK Unknown status NCT00770094 Phase 4
7 A Prospective Safety and Effectiveness Study of the 500 Hz Technolas Perfect Vision Excimer Laser Using LASIK Unknown status NCT02071576 Phase 4
8 A Prospective Safety and Effectiveness Study of a New High Repetition Rate Excimer Laser Using LASIK for the Correction of Ammetropia and Presbyopia Unknown status NCT02112968 Phase 4
9 Clinical Investigation of the Bi Flex M Multifocal IOL Unknown status NCT02338882 Phase 4
10 Effect of Orthokeratology Versus Spectacles on Myopia Progression in Chinese Children: A Crossover Trial Completed NCT02186184 Phase 4
11 Visual Outcomes and Contrast Sensitivity After Myopic LASIK Completed NCT01746589 Phase 4
12 Evaluation of the Prophylactic Use of Mitomycin C 0.02% to Inhibit Haze Formation After Photorefractive Keratectomy for High Myopia: 15 x 30 Seconds Completed NCT00564213 Phase 4 PRK and a single intraoperative topical application of mitomycin C 0.02% for 15 seconds
13 A Comparison of PRK and LASIK for Correction of Myopia Completed NCT00404105 Phase 4
14 An Evaluation of Outcomes Following Wavefront Optimized or Wavefront Guided Lasik Procedure in Low to Moderate Myopic Patients Completed NCT01173198 Phase 4
15 Bevacizumab Intravitreal for Myopic Choroidal Neovascularization Completed NCT00797992 Phase 4 Injection
16 SD-OCT-guided Intravitreal Ranibizumab Treatment in Choroidal Neovascularization Due to Myopia Completed NCT03409250 Phase 4 Ranibizumab, Lucentis
17 Presbyopic Supracor Treatment for Near Myopic/Hyperopic Pseudophakic Eyes Completed NCT01387360 Phase 4
18 Three Intraocular Lenses Designed to Improve Distance, Intermediate and Near Vision Following Lens Extraction Completed NCT01225952 Phase 4
19 Evaluation of the Post-LASIK Flap Thickness of the FS200 Femtosecond Laser Flap Completed NCT01693939 Phase 4
20 Contralateral Comparison of Three Excimer Laser Systems in Performing LASIK Completed NCT00821236 Phase 4
21 Clinical Study of Approved Contact Lenses Completed NCT03351101 Phase 4
22 Overall Performance of a 1-day Silicone Hydrogel Lens When Habitual Soft Lens Wearers Are Refit Completed NCT02588573 Phase 4
23 BIOCLEAN MPS (Multi-Purpose Solution) VII in Combination With Biofinity Lens: A Two Week Crossover Study Completed NCT02537730 Phase 4
24 Clinical Evaluation of Daily Disposable Contact Lenses Completed NCT02097030 Phase 4
25 Daily Disposable Comparison Study Completed NCT02094677 Phase 4
26 Multi-center Clinical Evaluation of PC 1-Day vs 1-Day Acuvue Moist Completed NCT02024698 Phase 4
27 Evaluation of Stenfilcon A Versus Etafilcon A Completed NCT01809834 Phase 4
28 Clinical Performance of Stenfilcon A Versus Filcon II 3 Completed NCT01808209 Phase 4
29 Multi-Centre Clinical Evaluation Of Two Daily Disposable Contact Lenses Completed NCT01707238 Phase 4
30 Evaluation of Comfilcon A and Senofilcon A Lenses Completed NCT01695369 Phase 4
31 Bromday Versus Nevanac Eye Drops to Control Pain Following Photorefractive Keratectomy Completed NCT01475877 Phase 4 Bromfenac
32 Effect of Preoperative Pupil Size on Quality of Vision After Wavefront-Guided LASIK Completed NCT00889941 Phase 4
33 Comparative Performance of PureVision, Acuvue Oasys and O2Optix Completed NCT00640341 Phase 4
34 Efficacy of PEG-400 and Systane Artificial Tears (Alcon) on Quality of Vision Completed NCT00627302 Phase 4 PEG-400;Systane
35 Long-term Effects of Laser Refractive Surgery Completed NCT00350246 Phase 4
36 Effects of Contact Lens Care Regimens on the Corneal Epithelium Completed NCT00349882 Phase 4 Marketed multipurpose disinfection regimen
37 Investigation of Multi-Purpose Solution-Based Corneal Staining and Ocular Comfort Completed NCT00349843 Phase 4 Marketed soft lens multipurpose disinfection regimen
38 Daily Wear Corneal Infiltrative Event Study Completed NCT00937105 Phase 4
39 Visual Performance After RESTOR Implantation Completed NCT01065064 Phase 4
40 Effect of Contact Lens Wear on Immune Cell Density and Morphology of the Ocular Surface Completed NCT01250925 Phase 4 ReNu MultiPlus® MultiPurpose Solution;OPTI-FREE® RepleniSH®;Clear Care®
41 Corneal and Conjunctival Sensitivity and Staining Study Completed NCT00455455 Phase 4 Optifree RepleniSH Multipurpose Disinfecting Solution;ReNu Multiplus Multipurpose Solution
42 Comparison of Acular LS Versus Nevanac for Pain Control in Eyes Undergoing PRK Completed NCT00347204 Phase 4 ketorolac (Acular LS);Nepafenac (Nevanac)
43 Bilateral, Masked Comparison of PEG-400 Based Artificial Tear vs. Systane for Dry Eye Signs, Symptoms & Refractive Regression Associated With Myopic Laser in Situ Keratomilieusis (LASIK). Completed NCT00620893 Phase 4 PEG- 400 based artificial tear;Systane
44 Evaluation of 3 Intraocular Lenses Following Lens Extraction Completed NCT01122576 Phase 4
45 Efficacy and Safety of Adding Atracurium to Percaruncular Block for High Myopes Undergoing Cataract Surgery Completed NCT03243500 Phase 4 Atracurium;Lidocaine 2%;Bupivacaine 0.5%;hyaluronidase powder
46 PreView PHP Preferential Hyperacuity Perimeter for the Detection of Choroidal Neovascularization Completed NCT00358345 Phase 4
47 Clinical Evaluation of the One-Piece Tecnis Multifocal Intraocular Lens (IOL) Completed NCT01210807 Phase 4
48 Comparison of Visual Outcomes and Patient Satisfaction After Cataract Surgery and Implantation of ReSTOR and ReZoom IOLs Completed NCT00366587 Phase 4
49 Clinical Evaluation of Biofinity Multifocal Compared With Air Optix Aqua Multifocal and With PureVision Multifocal Completed NCT01591499 Phase 4
50 Comparison of Next Generation Laser Techniques of Myopia Correction: iDesign vs. SMILE Recruiting NCT03001401 Phase 4

Search NIH Clinical Center for Myopia

Cochrane evidence based reviews: myopia

Genetic Tests for Myopia

Genetic tests related to Myopia:

# Genetic test Affiliating Genes
1 Myopia 28

Anatomical Context for Myopia

MalaCards organs/tissues related to Myopia:

38
Eye, Retina, Testes, Endothelial, Bone, Heart, Cortex

Publications for Myopia

Articles related to Myopia:

(show top 50) (show all 1092)
# Title Authors Year
1
Association between Optic Nerve Head Deformation and Retinal Microvasculature in High Myopia. ( 29421295 )
2018
2
Acquired myopia in Vogt-Koyanagi-Harada disease. ( 29397539 )
2018
3
Early quantitative profiling of differential retinal protein expression in lens-induced myopia in guinea pig using fluorescence difference two-dimensional gel electrophoresis. ( 29436656 )
2018
4
FULL-THICKNESS MACULAR HOLE WITH MACULAR INTRACHOROIDAL CAVITATION IN A PATIENT WITH PATHOLOGIC MYOPIA. ( 29443802 )
2018
5
Impact of varying the definition of myopia on estimates of prevalence and associations with risk factors: time for an approach that serves research, practice and policy. ( 29437571 )
2018
6
Low-Dose Atropine for Myopia Control-Reply. ( 29423510 )
2018
7
Myopia: its historical contexts. ( 29437569 )
2018
8
A highly efficient murine model of experimental myopia. ( 29391484 )
2018
9
Association of the<i>PAX6</i>gene with extreme myopia rather than lower grade myopias. ( 29436400 )
2018
10
Investigating the long-term impact of a childhood sun-exposure intervention, with a focus on eye health: protocol for the Kidskin-Young Adult Myopia Study. ( 29391375 )
2018
11
Allergic Conjunctivitis-induced Retinal Inflammation Promotes Myopia Progression. ( 29398596 )
2018
12
Chromatic and achromatic visual fields in relation to choroidal thickness in patients with high myopia: A pilot study. ( 29396209 )
2018
13
POSTERIOR PRECORTICAL VITREOUS POCKETS IN HIGH MYOPIA OBSERVED BY ENHANCED VITREOUS IMAGING OF SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY. ( 29443795 )
2018
14
Myopia prevalence in Canadian school children: a pilot study. ( 29391573 )
2018
15
Low-Dose Atropine for Myopia Control: Considering All the Data. ( 29423500 )
2018
16
Association of IGF1 polymorphism rs6214 with high myopia: A systematic review and meta-analysis. ( 28135889 )
2017
17
Influence of laser versus lens-sparing vitrectomy on myopia in children with retinopathy of prematurity. ( 28905828 )
2017
18
Evaluation of Therapeutic Tissue Crosslinking (TXL) for Myopia Using Second Harmonic Generation Signal Microscopy in Rabbit Sclera. ( 28055099 )
2017
19
Myopia and Late-Onset Progressive Cone Dystrophy Associate to LVAVA/MVAVA Exon 3 Interchange Haplotypes of Opsin Genes on Chromosome X. ( 28358949 )
2017
20
A novel potentially causative variant of NDUFAF7 revealed by mutation screening in a chinese family with pathologic myopia. ( 28837730 )
2017
21
Refractive Outcomes of Posterior Chamber Phakic Intraocular Lens Implantation for Correction of Myopia and Myopic Astigmatism. ( 28790537 )
2017
22
Role of short-wavelength filtering lenses in delaying myopia progression and amelioration of asthenopia in juveniles. ( 28861353 )
2017
23
Aqueous misdirection masked as myopia after cataract surgery. ( 28774542 )
2017
24
Violet Light Exposure Can Be a Preventive Strategy Against Myopia Progression. ( 28063778 )
2017
25
Changes in the anterior cornea during the early stages of severe myopia prior to and following LASIK, as detected by confocal microscopy. ( 28912848 )
2017
26
Methodology of the ZOC-BHVI High Myopia Cohort Study: The Onset and Progression of Myopic Pathologies and Associated Risk Factors in Highly Myopic Chinese. ( 28891727 )
2017
27
Riboflavin and ultraviolet A irradiation for the prevention of progressive myopia in a guinea pig model. ( 28864176 )
2017
28
The epidemics of myopia: Aetiology and prevention. ( 28951126 )
2017
29
Association between parents' attitudes and behaviors toward children's visual care and myopia risk in school-aged children. ( 29384911 )
2017
30
Role of a Dual Splicing and Amino Acid Code in Myopia, Cone Dysfunction and Cone Dystrophy Associated with L/M Opsin Interchange Mutations. ( 28516000 )
2017
31
One year refractive outcomes of Femtosecond-LASIK in mild, moderate and high myopia. ( 29450367 )
2017
32
Suprachoroidal injection of biological agents may have a potential role in the prevention of progression and complications in high myopia. ( 28915972 )
2017
33
Association and interaction of myopia with SNP markers rs13382811 and rs6469937 at ZFHX1B and SNTB1 in Han Chinese and European populations. ( 28848321 )
2017
34
Drug-induced Myopia and Bilateral Angle Closure Secondary to Zolmitriptan. ( 28858962 )
2017
35
Novel evidence for complement system activation in chick myopia and hyperopia models: a meta-analysis of transcriptome datasets. ( 28852117 )
2017
36
Genetic Association Study of KCNQ5 Polymorphisms with High Myopia. ( 28884119 )
2017
37
Mutations in DZIP1 and XYLT1 are associated with nonsyndromic early onset high myopia in the Korean population. ( 28085539 )
2017
38
Early visual outcomes and optical quality after femtosecond laser small-incision lenticule extraction for myopia and myopic astigmatism correction of over -10 dioptres. ( 29251814 )
2017
39
Myopia as a risk factor for subsequent retinal tears in the course of a symptomatic posterior vitreous detachment. ( 29191240 )
2017
40
Interventions to control myopia progression in children: protocol for an overview of systematic reviews and meta-analyses. ( 28893307 )
2017
41
Update on Orthokeratology in Managing Progressive Myopia in Children: Efficacy, Mechanisms, and Concerns. ( 28092397 )
2017
42
Clinical outcomes of small incision lenticule extraction versus femtosecond laser-assisted LASIK for myopia: a Meta-analysis. ( 28944205 )
2017
43
Assessment of Retinal Nerve Fiber Layer Changes by Cirrus High-definition Optical Coherence Tomography in Myopia. ( 28924339 )
2017
44
Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission. ( 28544784 )
2017
45
Comparison of the efficacy of intravitreal ranibizumab for choroidal neovascularization due to pathological myopia with and without a dome-shaped macula. ( 29390361 )
2017
46
Association of IGF1 and IGF1R gene polymorphisms with high myopia in a Han Chinese population. ( 27044882 )
2017
47
Periventricular leukomalacia with -16 DS high myopia in a 2A1 months old infant: A rare case presentation. ( 29118507 )
2017
48
A Prospective Study to Compare Visual Outcomes Between Wavefront-optimized and Topography-guided Ablation Profiles in Contralateral Eyes With Myopia. ( 28068440 )
2017
49
Long-Term Endothelial Cell Loss in Patients with Artisan Myopia and Artisan Toric Phakic Intraocular Lenses: 5- and 10-Year Results. ( 28935401 )
2017
50
Visual Acuity, and Macular and Peripapillary Thickness in High Myopia. ( 28933972 )
2017

Variations for Myopia

ClinVar genetic disease variations for Myopia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COL2A1 NM_033150.2(COL2A1): c.2503C> T (p.Arg835Cys) single nucleotide variant Pathogenic rs121912882 GRCh37 Chromosome 12, 48373317: 48373317
2 CHD7 NM_017780.3(CHD7): c.6892C> T (p.Gln2298Ter) single nucleotide variant Pathogenic rs1057518891 GRCh37 Chromosome 8, 61767038: 61767038
3 FBN1 NM_000138.4(FBN1): c.6800A> T (p.Asn2267Ile) single nucleotide variant Pathogenic rs1057518812 GRCh38 Chromosome 15, 48430742: 48430742
4 FBN1 NM_000138.4(FBN1): c.840_843delTGAA (p.Asn280Lysfs) deletion Pathogenic rs1057518909 GRCh37 Chromosome 15, 48826296: 48826299

Expression for Myopia

Search GEO for disease gene expression data for Myopia.

Pathways for Myopia

Pathways related to Myopia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.75 COL11A1 COL2A1 FBN1 FMOD P3H2 P4HA2

GO Terms for Myopia

Cellular components related to Myopia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.56 COL11A1 COL2A1 FBN1 FMOD
2 endoplasmic reticulum lumen GO:0005788 9.35 COL11A1 COL2A1 FBN1 P3H2 P4HA2
3 basement membrane GO:0005604 9.33 COL2A1 FBN1 P3H2
4 proteinaceous extracellular matrix GO:0005578 9.1 ADAMTS17 COL11A1 COL2A1 FBN1 FMOD NYX

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.71 COL11A1 COL2A1 NYX SLITRK6
2 skeletal system development GO:0001501 9.67 CHD7 COL2A1 FBN1
3 camera-type eye development GO:0043010 9.61 CHD7 FBN1 SLITRK6
4 innervation GO:0060384 9.48 CHD7 SLITRK6
5 cartilage condensation GO:0001502 9.46 COL11A1 COL2A1
6 heart morphogenesis GO:0003007 9.43 CHD7 COL11A1 COL2A1
7 proteoglycan metabolic process GO:0006029 9.37 COL11A1 COL2A1
8 collagen fibril organization GO:0030199 9.33 COL11A1 COL2A1 FMOD
9 peptidyl-proline hydroxylation GO:0019511 9.32 P3H2 P4HA2
10 sensory perception of sound GO:0007605 9.26 CHD7 COL11A1 COL2A1 SLITRK6
11 inner ear morphogenesis GO:0042472 8.92 CHD7 COL11A1 COL2A1 SLITRK6

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

# Name GO ID Score Top Affiliating Genes
1 L-ascorbic acid binding GO:0031418 8.96 P3H2 P4HA2
2 extracellular matrix structural constituent GO:0005201 8.8 COL11A1 COL2A1 FBN1

Sources for Myopia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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