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MCID: MYP006
MIFTS: 55

Myopia

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Myopia

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MalaCards integrated aliases for Myopia:

Name: Myopia 12 74 25 36 29 54 6 15 39 71 32
Short-Sightedness 12 25
Near-Sightedness 12 25
Nearsightedness 25
Close Sighted 25
Short-Sighted 25
Near Vision 12
Nearsighted 25
Myopic 25

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:11830
KEGG 36 H02041
ICD9CM 34 367.1
NCIt 49 C102533
SNOMED-CT 67 57190000
ICD10 32 H52.1
UMLS 71 C0027092
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Summaries for Myopia

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Genetics Home Reference : 25 Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment. Nearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood. For normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be. Nearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other. Eye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.

MalaCards based summary : Myopia, also known as short-sightedness, is related to deafness and myopia and degenerative myopia, and has symptoms including aniseikonia An important gene associated with Myopia is COL2A1 (Collagen Type II Alpha 1 Chain). The drugs Fluorometholone and Loteprednol have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and endothelial.

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

KEGG : 36 Myopia is the most common ocular disorder worldwide, and high myopia in particular is one of the leading causes of blindness. Nonsyndromic, high myopia is highly heritable, and to date a few causative genes have been identified. It was reported that high myopia with cataract and vitreoretinal degeneration (MCVD) is caused by homozygous mutation in the LEPREL1 (P3H2) gene.

Wikipedia : 74 Near-sightedness, also known as short-sightedness and myopia, is an eye disorder where light focuses in... more...

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Related Diseases for Myopia

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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
Myopia 27

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

(show top 50) (show all 638)
# Related Disease Score Top Affiliating Genes
1 deafness and myopia 35.3 ZNF644 SLITRK6 SLC39A5
2 degenerative myopia 35.1 ZNF644 SCO2
3 rare isolated myopia 34.4 SCO2 P3H2 LRPAP1
4 marshall syndrome 33.9 COL2A1 COL11A1
5 refractive error 33.9 ZNF644 SLC39A5 SCO2 PRIMPOL LRPAP1 CHD7
6 stickler syndrome 33.5 NYX FBN1 COL2A1 COL11A1
7 kniest dysplasia 32.9 COL2A1 COL11A1
8 megalocornea 32.6 FBN1 COL11A1 ADAMTS17
9 retinal detachment 32.5 P3H2 COL2A1 COL11A1
10 cataract 32.3 TYR P3H2 FBN1 COL2A1 COL11A1
11 strabismus 32.1 TYR COL2A1 COL11A1 CHD7
12 fundus dystrophy 31.4 ZNF644 TYR NYX FBN1 COL2A1 COL11A1
13 lens subluxation 31.3 P3H2 FBN1 ADAMTS17
14 brittle bone disorder 31.0 P3H2 FBN1 COL2A1
15 vitreoretinal degeneration 30.8 P3H2 COL2A1 COL11A1
16 vitreous syneresis 30.7 COL2A1 COL11A1
17 sensorineural hearing loss 30.2 SLITRK6 COL2A1 COL11A1 CHD7
18 microcornea, myopic chorioretinal atrophy, and telecanthus 12.8
19 joint laxity, short stature, and myopia 12.7
20 epiphyseal dysplasia, multiple, with myopia and conductive deafness 12.6
21 myopia 6 12.6
22 myopia 21, autosomal dominant 12.5
23 myopia 26, x-linked, female-limited 12.5
24 polydactyly, postaxial, with progressive myopia 12.5
25 myopia 23, autosomal recessive 12.5
26 myopia 22, autosomal dominant 12.5
27 myopia 24, autosomal dominant 12.5
28 myopia, high, with cataract and vitreoretinal degeneration 12.5
29 myopia 17, autosomal dominant 12.5
30 myopia 25, autosomal dominant 12.5
31 myopia 27 12.5
32 myopia 5, autosomal dominant 12.5
33 myopia 12, autosomal dominant 12.5
34 myopia 13, x-linked 12.5
35 myopia 18, autosomal recessive 12.5
36 myopia 15, autosomal dominant 12.5
37 myopia 16, autosomal dominant 12.5
38 myopia 19, autosomal dominant 12.5
39 myopia 11, autosomal dominant 12.5
40 blepharoptosis, myopia, and ectopia lentis 12.5
41 myopia 1, x-linked 12.5
42 myopia 2, autosomal dominant 12.5
43 myopia 10 12.5
44 myopia 7 12.5
45 myopia 14 12.5
46 myopia 8 12.5
47 myopia 9 12.5
48 myopia 20, autosomal dominant 12.5
49 myopia 3, autosomal dominant 12.4
50 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia 12.4

Graphical network of the top 20 diseases related to Myopia:



Diseases related to Myopia
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Symptoms & Phenotypes for Myopia

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UMLS symptoms related to Myopia:


aniseikonia
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Drugs & Therapeutics for Myopia

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

(show top 50) (show all 186)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fluorometholone Approved, Investigational Phase 4 426-13-1 9878
2
Loteprednol Approved, Experimental Phase 4 129260-79-3, 82034-46-6 9865442 444025
3
Atropine Approved, Vet_approved Phase 4 51-55-8, 5908-99-6 174174
4
Levofloxacin Approved, Investigational Phase 4 100986-85-4 149096
5
Ofloxacin Approved Phase 4 82419-36-1 4583
6
Ketorolac Approved Phase 4 66635-83-4, 74103-06-3 3826
7
Lactitol Approved, Investigational Phase 4 585-88-6, 585-86-4 493591
8
Nepafenac Approved, Investigational Phase 4 78281-72-8 151075
9
Atracurium Approved, Experimental, Investigational Phase 4 64228-79-1 47319
10
Hydrogen peroxide Approved, Vet_approved Phase 4 7722-84-1 784
11
Polihexanide Approved, Investigational Phase 4 28757-47-3
12
Ranibizumab Approved Phase 4 347396-82-1 459903
13
Verteporfin Approved, Investigational Phase 4 129497-78-5
14 Propoxycaine Approved Phase 4 86-43-1
15 Laxatives Phase 4
16 Cathartics Phase 4
17
Echothiophate Iodide Phase 4 6736-03-4 10547
18 Carboxymethylcellulose Sodium Phase 4
19 Cholinesterase Inhibitors Phase 4
20 Anti-Allergic Agents Phase 4
21 Ophthalmic Solutions Phase 4
22 Lubricant Eye Drops Phase 4
23 Anti-Inflammatory Agents Phase 4
24 Ketorolac Tromethamine Phase 4
25 Analgesics Phase 4
26 Analgesics, Non-Narcotic Phase 4
27 Antirheumatic Agents Phase 4
28 Anti-Inflammatory Agents, Non-Steroidal Phase 4
29 Neuromuscular Blocking Agents Phase 4
30 Biguanides Phase 4
31 Cyclooxygenase Inhibitors Phase 4
32 Dermatologic Agents Phase 4
33 Photosensitizing Agents Phase 4
34 Angiogenesis Inhibitors Phase 4
35 Omega 3 Fatty Acid Phase 4
36 Adrenergic Agents Phase 4
37 Adrenergic Agonists Phase 4
38 Respiratory System Agents Phase 4
39 Cholinergic Agents Phase 4
40 Parasympatholytics Phase 4
41 Anti-Asthmatic Agents Phase 4
42 Muscarinic Antagonists Phase 4
43 Cholinergic Antagonists Phase 4
44 Neurotransmitter Agents Phase 4
45 Bronchodilator Agents Phase 4
46 Mydriatics Phase 4
47 Pharmaceutical Solutions Phase 4
48 Anesthetics Phase 4
49 Proxymetacaine Phase 4
50 Anesthetics, Local Phase 4

Interventional clinical trials:

(show top 50) (show all 853)
# Name Status NCT ID Phase Drugs
1 Ranibizumabe Intravitreal Injection for Myopic Choroidal Neovascularization Unknown status NCT01246089 Phase 4 ranibizumab injection
2 A Prospective, Randomized, Multi Center Clinical Comparison Of Fellow Eyes Undergoing Lasik Using The Amo/Visx Customvue™ , The Bausch And Lomb Zyoptix And Planoscan And The Wavelight Allegretto Wave™ Wavefront Guided And Wavefront Optimized Excimer Laser Systems Unknown status NCT00770094 Phase 4
3 Pilot Study of Prevention Myopia in Children With Low Concentration of Atropine Unknown status NCT00541177 Phase 4 atropine;tropicamide
4 Comparison of Next Generation Laser Techniques of Myopia Correction: iDesign vs. SMILE Unknown status NCT03001401 Phase 4
5 Aflibercept Intravitreal Injection for Myopic Choroidal Neovascularization Unknown status NCT02033018 Phase 4 Aflibercept Injection
6 Echothiophate Iodide for the Prevention of Progression of Myopia Unknown status NCT02544529 Phase 4 Echothiophate Iodide 0.03% Ophthalmic Solution;Carboxymethylcellulose Sodium (0.5%)
7 A Prospective Safety and Effectiveness Study of the 500 Hz Technolas Perfect Vision Excimer Laser Using LASIK Unknown status NCT02071576 Phase 4
8 PHASE IV STUDY # 1162. Prospective Investigation of SUPRACOR Visual Outcomes of Presbyopic Hyperopic Patients With and Without Astigmatism Unknown status NCT01628146 Phase 4
9 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
10 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
11 Randomized, Single Blinded Controlled Trial for Evaluation of the Safety and Efficacy of Loteprednol Versus Fluorometholone After Photorefractive Keratectomy for the Correction of Mild to Moderate Myopia, 3- Month Follow-up Study Unknown status NCT02974387 Phase 4 Fluorometholone(FML);Loteprednol (Lotemax)
12 A Prospective Study to Evaluate the Safety and Effectiveness of the Supracor Presbyopic Treatment Algorithm for Pseudophakic Eyes Using Lasik Completed NCT01387360 Phase 4
13 Infiltrative Events During Silicone Hydrogel Daily Contact Lens (Daily Wear Corneal Infiltrative Event (DWCIE) Study) Completed NCT00937105 Phase 4
14 A Prospective, Randomised Trial of Photo-Refractive Keratectomy (PRK) and Laser-in-Situ-Keratomileusis (LASIK) for Correction of Myopia Completed NCT00404105 Phase 4
15 The Influence of Atropine on Choroidal Thickness Completed NCT03158142 Phase 4 Atropine Sulfate 1% Oph Soln
16 A Prospective Evaluation of Outcomes Following Wavefront Optimized or Wavefront Guided Lasik Procedure in Low to Moderate Myopic Patients Completed NCT01173198 Phase 4
17 Evaluation Of Visual Outcomes and Contrast Sensitivity After Myopic Wavefront-Optimized Lasik Using the 200 KHZ WAVELIGHT® FS200 Femtosecond Laser and the WAVELIGHT® ALLEGRETTO WAVE® EYE-Q Laser Completed NCT01746589 Phase 4
18 Bevacizumab Intravitreal for Myopic Choroidal Neovascularization Completed NCT00797992 Phase 4 Injection
19 Dosing Strategy of Intravitreal Ranibizumab for Myopia Choroidal Neovascularization: a Single Center Randomized Prospective Study Completed NCT03042871 Phase 4 0.5mg intravitreal ranibizumab
20 Effect of Orthokeratology on Myopia Progression in Chinese Children Completed NCT02186184 Phase 4
21 A Three Arm Prospective Clinical Evaluation of Three FDA-approved Intraocular Lenses Designed to Improve Distance, Intermediate and Near Vision Following Lens Extraction Completed NCT01225952 Phase 4
22 Clinical Evaluation of the One-Piece Tecnis Multifocal IOL, Model ZMB00 Completed NCT01210807 Phase 4
23 A Three Arm Prospective Clinical Evaluation of Three FDA Approved Intraocular Lenses Designed to Improve Distance, Intermediate and Near Vision Following Lens Extraction. Completed NCT01122576 Phase 4
24 Visual Performance After Implantation of an Aspheric Multifocal Diffractive Intraocular Lens Completed NCT01065064 Phase 4
25 Randomised Clinical Investigation of the Bi Flex M Multifocal Intraocular Lens Completed NCT02338882 Phase 4
26 Effects of Contact Lens Care Regimens on the Corneal Epithelium Completed NCT00349882 Phase 4 Marketed multipurpose disinfection regimen
27 Evaluation of Stenfilcon A Versus Etafilcon A Completed NCT01809834 Phase 4
28 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
29 A Single Center Prospective Evaluation of the Post-LASIK Flap Thickness of the FS200 Femtosecond Laser Flap Completed NCT01693939 Phase 4
30 Investigation of Multi-Purpose Solution-Based Corneal Staining and Ocular Comfort With Daily Wear FDA Group IV Hydrogel Lenses Completed NCT00349843 Phase 4 Marketed soft lens multipurpose disinfection regimen
31 Clinical Comfort Evaluation of Biofinity and Acuvue Oasys Lenses Completed NCT01695369 Phase 4
32 Product Performance of Bausch & Lomb PureVision® Contact Lens When Compared to Johnson & Johnson Acuvue Oasys Contact Lens and the Ciba Vision O2Optix Contact Lens Worn Daily. Completed NCT00640341 Phase 4
33 Clinical Study of Approved Contact Lenses Completed NCT03351101 Phase 4
34 Effect of Preoperative Pupil Size on Quality of Vision After Wavefront-Guided LASIK Completed NCT00889941 Phase 4
35 Efficacy and Safety of Low Dose Atracurium Added to Lidocaine, Bupivacaine and Hyaluronidase Mixture in Percaruncular Peribulbar Anesthesia for High Myopes Undergoing Phacoemulsification: A Randomized Controlled Trial. Completed NCT03243500 Phase 4 Atracurium;Lidocaine 2%;Bupivacaine 0.5%;hyaluronidase powder
36 Multi-center Clinical Evaluation of PC 1-Day vs 1-Day Acuvue Moist Completed NCT02024698 Phase 4
37 BIOCLEAN MPS (Multi-Purpose Solution) VII in Combination With Biofinity Lens: A Two Week Crossover Study Completed NCT02537730 Phase 4
38 Efficacy of PEG-400 and Systane Artificial Tears (Alcon) on Quality of Vision Completed NCT00627302 Phase 4 PEG-400;Systane
39 Multi-Centre Clinical Evaluation Of Two Daily Disposable Contact Lenses Completed NCT01707238 Phase 4
40 Daily Disposable Comparison Study Completed NCT02094677 Phase 4
41 SD-OCT-guided Intravitreal Ranibizumab Treatment in Choroidal Neovascularization Due to Myopia Completed NCT03409250 Phase 4 Ranibizumab, Lucentis
42 Long-term Effects of Laser Refractive Surgery Completed NCT00350246 Phase 4
43 Clinical Performance of Stenfilcon A Versus Filcon II 3 Completed NCT01808209 Phase 4
44 A Prospective, Multi Center Clinical Comparison of Fellow Eyes Undergoing Lasik Using the Wavelight Allegretto Wave™ Excimer Laser in One Eye and the Amo/Visx Customvue™ or the Ladarvision 4000 Excimer Laser System in the Contralateral Eye Completed NCT00821236 Phase 4
45 Contralateral Eye Comparison of Visual Outcomes and Patient Satisfaction After Routine Phacoemulsification and Implantation of ReSTOR and ReZoom IOLs Completed NCT00366587 Phase 4
46 The Effects of Low Dose Atropine on Choroidal Thickness Completed NCT03544827 Phase 4 Atropine;Atropine
47 Single-Center Clinical Evaluation of Daily Disposable Contact Lenses Completed NCT02097030 Phase 4
48 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
49 Corneal and Conjunctival Sensitivity and Staining Study Completed NCT00455455 Phase 4 Optifree RepleniSH Multipurpose Disinfecting Solution;ReNu Multiplus Multipurpose Solution
50 Effect of Contact Lens Wear on Immune Cell Density and Morphology of the Ocular Surface: A Laser In Vivo Confocal Microscopy Study Completed NCT01250925 Phase 4 ReNu MultiPlus® MultiPurpose Solution;OPTI-FREE® RepleniSH®;Clear Care®

Search NIH Clinical Center for Myopia

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Genetic Tests for Myopia

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Genetic tests related to Myopia:

# Genetic test Affiliating Genes
1 Myopia (disease) 29
Sources

Anatomical Context for Myopia

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MalaCards organs/tissues related to Myopia:

40
Eye, Retina, Endothelial, Testes, Bone, Brain, Heart
Sources

Publications for Myopia

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Articles related to Myopia:

(show top 50) (show all 15827)
# Title Authors PMID Year
1
Association analysis of retinoic acid receptor beta (RARbeta) gene with high myopia in Chinese subjects. 61 54
20508731 2010
2
Mutations in RPGR and RP2 of Chinese patients with X-linked retinitis pigmentosa. 54 61
20021257 2010
3
AC and AG dinucleotide repeats in the PAX6 P1 promoter are associated with high myopia. 61 54
19907666 2009
4
The association of haplotype at the lumican gene with high myopia susceptibility in Taiwanese patients. 54 61
19616852 2009
5
COL1A1 and COL2A1 genes and myopia susceptibility: evidence of association and suggestive linkage to the COL2A1 locus. 61 54
19387081 2009
6
Sclera-related gene polymorphisms in high myopia. 54 61
19710942 2009
7
Absence of association between COL1A1 polymorphisms and high myopia in the Japanese population. 54 61
18836165 2009
8
Common variant in myocilin gene is associated with high myopia in isolated population of Korcula Island, Croatia. 54 61
19260140 2009
9
Association of PAX6 polymorphisms with high myopia in Han Chinese nuclear families. 54 61
19124844 2009
10
Myocilin polymorphisms and high myopia in subjects of European origin. 61 54
19180258 2009
11
Regulation of pigment epithelium-derived factor production and release by retinal glial (Müller) cells under hypoxia. 61 54
18676622 2008
12
Changes in aqueous vascular endothelial growth factor and pigment epithelial-derived factor levels following intravitreal bevacizumab injections for choroidal neovascularization secondary to age-related macular degeneration or pathologic myopia. 61 54
18728623 2008
13
Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population. 54 61
18655112 2008
14
A PAX6 gene polymorphism is associated with genetic predisposition to extreme myopia. 54 61
17948041 2008
15
Assessment of TGIF as a candidate gene for myopia. 61 54
18172074 2008
16
Application of fluorescence difference gel electrophoresis technology in searching for protein biomarkers in chick myopia. 61 54
17924678 2007
17
PAX6 mutations may be associated with high myopia. 54 61
17896318 2007
18
A population-based epidemiological and genetic study of X-linked retinitis pigmentosa. 61 54
17724181 2007
19
The COL1A1 gene and high myopia susceptibility in Japanese. 61 54
17557158 2007
20
Candidate gene and locus analysis of myopia. 61 54
17653045 2007
21
Linkage and association of myocilin (MYOC) polymorphisms with high myopia in a Chinese population. 54 61
17438518 2007
22
Novel mutations in the small leucine-rich repeat protein/proteoglycan (SLRP) genes in high myopia. 54 61
17117407 2007
23
Mutations in NYX of individuals with high myopia, but without night blindness. 61 54
17392683 2007
24
Effects of intravitreally and intraperitoneally injected atropine on two types of experimental myopia in chicken. 54 61
17101130 2007
25
Systematic assessment of the tagging polymorphisms of the COL1A1 gene for high myopia. 61 54
17273809 2007
26
Analysis of single nucleotide polymorphisms at 13 loci within the transforming growth factor-induced factor gene shows no association with high myopia in Japanese subjects. 61 54
17048038 2006
27
Basic fibroblast growth factor suppresses retinal neuronal apoptosis in form-deprivation myopia in chicks. 54 61
17114124 2006
28
Mutational analysis of RPGR and RP2 genes in Japanese patients with retinitis pigmentosa: identification of four mutations. 61 54
17093403 2006
29
The association of single nucleotide polymorphisms in the 5'-regulatory region of the lumican gene with susceptibility to high myopia in Taiwan. 61 54
16902402 2006
30
[Establishing the linkage disequilibrium pattern for the all-trans-retinol dehydrogenase (RDH8) gene]. 54 61
17081426 2006
31
Aqueous humor levels of vascular endothelial growth factor and pigment epithelium-derived factor in polypoidal choroidal vasculopathy and choroidal neovascularization. 54 61
16490490 2006
32
Retinal serotonin, eye growth and myopia development in chick. 54 61
15949800 2005
33
Low levels of pigment epithelium-derived factor in highly myopic eyes with chorioretinal atrophy. 61 54
16310484 2005
34
Magnification-corrected indirect biomicroscopy of the optic nerve head. 61 54
15455240 2005
35
Exclusion of lumican and fibromodulin as candidate genes in MYP3 linked high grade myopia. 54 61
15592176 2004
36
A susceptibility locus for myopia in the normal population is linked to the PAX6 gene region on chromosome 11: a genomewide scan of dizygotic twins. 61 54
15307048 2004
37
Cohen syndrome in the Ohio Amish. 61 54
15211651 2004
38
Sequence variants in the transforming growth beta-induced factor (TGIF) gene are not associated with high myopia. 54 61
15223781 2004
39
Pax-6 expression in posthatch chick retina during and recovery from form-deprivation myopia. 61 54
15855761 2004
40
Using denaturing HPLC for SNP discovery and genotyping, and establishing the linkage disequilibrium pattern for the all-trans-retinol dehydrogenase (RDH8) gene. 61 54
14661078 2004
41
[The SNPs analysis of encoding sequence of interacting factor gene in Chinese population]. 54 61
14556208 2003
42
Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene. 61 54
12939326 2003
43
A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia. 54 61
12925722 2003
44
TGFbeta-induced factor: a candidate gene for high myopia. 61 54
12601022 2003
45
[Comparison of PKR and LASIK for the treatment of low myopia: statistic study of refractive and optic results]. 61 54
11965115 2002
46
Novel deletion of the RPGR gene in a Chinese family with X-linked retinitis pigmentosa. 61 54
11559860 2001
47
Clinical features and a follow-up study in a family with X-linked progressive cone-rod dystrophy. 54 61
11453854 2001
48
Audiovestibular phenotype associated with a COL11A1 mutation in Marshall syndrome. 61 54
10889003 2000
49
Retinoic acid increases in the retina of the chick with form deprivation myopia. 61 54
9731117 1998
50
A comparative histologic study of the fibrillin microfibrillar system in the lens capsule of normal subjects and subjects with Marfan syndrome. 61 54
9430549 1998
Sources

Variations for Myopia

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ClinVar genetic disease variations for Myopia:

6 (show all 30) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CHD7 NM_017780.4(CHD7):c.6892C>T (p.Gln2298Ter)SNV Pathogenic 374090 rs1057518891 8:61767038-61767038 8:60854479-60854479
2 FBN1 NM_000138.4(FBN1):c.6800A>T (p.Asn2267Ile)SNV Pathogenic 373981 rs1057518812 15:48722939-48722939 15:48430742-48430742
3 FBN1 NM_000138.4(FBN1):c.840_843del (p.Asn280fs)deletion Pathogenic 374115 rs1057518909 15:48826296-48826299 15:48534099-48534102
4 TYR NM_000372.5(TYR):c.1A>G (p.Met1Val)SNV Pathogenic 3807 rs28940881 11:88911122-88911122 11:89177954-89177954
5 subset of 22 genes: FLCN , RAI1 GRCh37/hg19 17p11.2(chr17:16936603-18184130)copy number loss Pathogenic 523258 17:16936603-18184130
6 46;XY;t(5;15)(q11.2;q24)Translocation Pathogenic 267937
7 COL2A1 NM_001844.5(COL2A1):c.2710C>T (p.Arg904Cys)SNV Pathogenic 17379 rs121912882 12:48373317-48373317 12:47979534-47979534
8 TYR NM_000372.5(TYR):c.1037-7T>ASNV Pathogenic/Likely pathogenic 99527 rs61754381 11:88960984-88960984 11:89227816-89227816
9 RSRC2 NM_023012.6(RSRC2):c.425G>A (p.Arg142Gln)SNV Likely pathogenic 242899 rs752134549 12:123001951-123001951 12:122517404-122517404
10 POGZ NM_015100.4(POGZ):c.402_409dup (p.His137fs)duplication Likely pathogenic 373957 rs1057518799 1:151403191-151403192 1:151430715-151430716
11 VPS13B NM_017890.4(VPS13B):c.4820+1G>ASNV Likely pathogenic 812992 8:100533239-100533239 8:99521011-99521011
12 COL4A4 NM_000092.4(COL4A4):c.2320G>C (p.Gly774Arg)SNV Likely pathogenic 242442 rs569681869 2:227924184-227924184 2:227059468-227059468
13 CACNA1F NM_001256789.3(CACNA1F):c.694A>T (p.Lys232Ter)SNV Likely pathogenic 374004 rs1057518829 X:49086805-49086805 X:49230343-49230343
14 MYH11 NM_002474.3(MYH11):c.4360G>C (p.Asp1454His)SNV Likely pathogenic 374162 rs1057518938 16:15818023-15818023 16:15724166-15724166
15 FBN1 NM_000138.4(FBN1):c.1481G>T (p.Cys494Phe)SNV Likely pathogenic 374079 rs1057518881 15:48805853-48805853 15:48513656-48513656
16 VPS13B NM_017890.4(VPS13B):c.11774_11777dup (p.Val3928fs)duplication Likely pathogenic 812993 8:100883875-100883876 8:99871647-99871648
17 COL11A1 NM_001854.4(COL11A1):c.4048_4065del (p.Ser1350_Pro1355del)deletion Likely pathogenic 523552 rs1553200431 1:103377736-103377753 1:102912180-102912197
18 SLC39A13 NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met)SNV Conflicting interpretations of pathogenicity 196579 rs140574574 11:47433573-47433573 11:47412022-47412022
19 COL4A4 NM_000092.4(COL4A4):c.4394G>A (p.Gly1465Asp)SNV Conflicting interpretations of pathogenicity 523324 rs533297350 2:227875157-227875157 2:227010441-227010441
20 SLC25A4 NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp)SNV Conflicting interpretations of pathogenicity 18249 rs121912683 4:186066174-186066174 4:185145020-185145020
21 ZNF469 NM_001367624.1(ZNF469):c.470G>A (p.Gly157Glu)SNV Uncertain significance 320853 rs781096189 16:88494348-88494348 16:88427940-88427940
22 46;XY;t(2;14)(p23;q13)dnTranslocation Uncertain significance 267852
23 46;X;t(X;9)(p22.2;p13)dnTranslocation Uncertain significance 267813
24 TNC NM_002160.4(TNC):c.890A>G (p.Asn297Ser)SNV Uncertain significance 523449 rs1554717312 9:117849120-117849120 9:115086841-115086841
25 ZNF469 NM_001367624.1(ZNF469):c.2569A>G (p.Asn857Asp)SNV Uncertain significance 523411 rs1555518955 16:88496447-88496447 16:88430039-88430039
26 ZNF469 NM_001367624.1(ZNF469):c.9532G>A (p.Gly3178Ser)SNV Uncertain significance 523412 rs887755283 16:88503410-88503410 16:88437002-88437002
27 EP300 NM_001429.4(EP300):c.2053+4A>TSNV Uncertain significance 374087 rs1057518889 22:41537230-41537230 22:41141226-41141226
28 AFF2 NM_002025.4(AFF2):c.3209A>G (p.His1070Arg)SNV Uncertain significance 373939 rs1057518785 X:148049164-148049164 X:148967634-148967634
29 FLNA NM_001110556.2(FLNA):c.3934C>T (p.Arg1312Cys)SNV Uncertain significance 617640 rs781928289 X:153588145-153588145 X:154359777-154359777
30 MT-TL1 NC_012920.1:m.3275C>TSNV Benign 370045 rs1057516057 MT:3275-3275 MT:3275-3275
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Expression for Myopia

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Search GEO for disease gene expression data for Myopia.
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Pathways for Myopia

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GO Terms for Myopia

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.46 P3H2 FBN1 COL2A1 COL11A1
2 basement membrane GO:0005604 9.13 P3H2 FBN1 COL2A1
3 extracellular matrix GO:0031012 9.02 NYX FBN1 COL2A1 COL11A1 ADAMTS17

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.71 FBN1 COL2A1 COL11A1 ADAMTS17
2 skeletal system development GO:0001501 9.65 FBN1 COL2A1 CHD7
3 camera-type eye development GO:0043010 9.5 SLITRK6 FBN1 CHD7
4 cartilage condensation GO:0001502 9.46 COL2A1 COL11A1
5 sensory perception of sound GO:0007605 9.46 SLITRK6 COL2A1 COL11A1 CHD7
6 innervation GO:0060384 9.43 SLITRK6 CHD7
7 heart morphogenesis GO:0003007 9.43 COL2A1 COL11A1 CHD7
8 proteoglycan metabolic process GO:0006029 9.37 COL2A1 COL11A1
9 visual perception GO:0007601 9.35 TYR SLITRK6 NYX COL2A1 COL11A1
10 inner ear morphogenesis GO:0042472 8.92 SLITRK6 COL2A1 COL11A1 CHD7

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.8 FBN1 COL2A1 COL11A1
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Sources for Myopia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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