MCID: MYP006
MIFTS: 55

Myopia

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myopia

MalaCards integrated aliases for Myopia:

Name: Myopia 12 73 43 36 29 54 6 44 15 39 70 32
Short-Sightedness 12 43
Near-Sightedness 12 43
Nearsightedness 43
Close Sighted 43
Short-Sighted 43
Near Vision 12
Nearsighted 43
Myopic 43

Classifications:



External Ids:

Disease Ontology 12 DOID:11830
KEGG 36 H02041
ICD9CM 34 367.1
MeSH 44 D009216
NCIt 50 C102533
SNOMED-CT 67 155133003
ICD10 32 H52.1
UMLS 70 C0027092

Summaries for Myopia

MedlinePlus Genetics : 43 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 FBN1 (Fibrillin 1). The drugs Tropicamide and Fluorometholone have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and endothelial, and related phenotype is skeleton.

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 : 73 Near-sightedness, also known as short-sightedness and myopia, is an eye disorder where light focuses in... 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
Myopia 27

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

(show top 50) (show all 669)
# Related Disease Score Top Affiliating Genes
1 deafness and myopia 33.4 ZNF644 P3H2
2 degenerative myopia 33.1 ZNF644 SCO2
3 night blindness, congenital stationary, type 1a 33.1 NYX CACNA1F
4 refractive error 32.9 ZNF644 SLC39A5 SCO2 PRIMPOL CHD7
5 x-linked congenital stationary night blindness 32.8 NYX CACNA1F
6 achromatopsia 3 32.8 NYX CACNA1F
7 marshall syndrome 32.6 COL2A1 COL11A1
8 stickler syndrome 32.5 NYX FBN1 COL2A1 COL11A1
9 rare isolated myopia 32.4 SCO2 P3H2
10 kniest dysplasia 32.3 COL2A1 COL11A1
11 stickler syndrome, type i 32.2 COL2A1 COL11A1
12 retinal detachment 32.2 P3H2 COL2A1 COL11A1
13 retinitis pigmentosa 32.0 ZNF644 VPS13B TYR P3H2 NYX COL2A1
14 night blindness, congenital stationary, type 1c 32.0 NYX CACNA1F
15 anisometropia 31.8 ZNF644 SLC39A5 SCO2
16 night blindness, congenital stationary, type 2a 31.7 NYX CACNA1F
17 megalocornea 31.6 FBN1 COL11A1
18 strabismus 31.6 TYR COL2A1 COL11A1 CHD7
19 pathologic nystagmus 31.1 TYR NYX CACNA1F
20 fundus dystrophy 30.9 ZNF644 VPS13B NYX FBN1 COL2A1 COL11A1
21 night blindness, congenital stationary, type 1e 30.7 NYX CACNA1F
22 brittle bone disorder 30.6 P3H2 FBN1 COL2A1 COL11A1
23 vitreoretinal degeneration 30.4 P3H2 COL2A1 COL11A1
24 night blindness, congenital stationary, type 1b 30.4 NYX CACNA1F
25 osteochondrodysplasia 30.4 P3H2 FBN1 COL2A1 COL11A1
26 vitreous syneresis 30.3 COL2A1 COL11A1
27 microcornea, myopic chorioretinal atrophy, and telecanthus 11.6
28 epiphyseal dysplasia, multiple, with myopia and conductive deafness 11.5
29 myopia 6 11.5
30 polydactyly, postaxial, with progressive myopia 11.4
31 myopia 26, x-linked, female-limited 11.4
32 donnai-barrow syndrome 11.4
33 myopia 21, autosomal dominant 11.4
34 joint laxity, short stature, and myopia 11.4
35 myopia 23, autosomal recessive 11.4
36 myopia 22, autosomal dominant 11.4
37 myopia 24, autosomal dominant 11.4
38 myopia, high, with cataract and vitreoretinal degeneration 11.4
39 myopia 17, autosomal dominant 11.4
40 myopia 27 11.4
41 myopia 2, autosomal dominant 11.4
42 myopia 25, autosomal dominant 11.3
43 myopia 5, autosomal dominant 11.3
44 myopia 1, x-linked 11.3
45 myopia 12, autosomal dominant 11.3
46 myopia 3, autosomal dominant 11.3
47 myopia 13, x-linked 11.3
48 blepharoptosis, myopia, and ectopia lentis 11.3
49 myopia 18, autosomal recessive 11.3
50 myopia 15, autosomal dominant 11.3

Graphical network of the top 20 diseases related to Myopia:



Diseases related to Myopia

Symptoms & Phenotypes for Myopia

UMLS symptoms related to Myopia:


aniseikonia

MGI Mouse Phenotypes related to Myopia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 skeleton MP:0005390 9.28 CACNA1F CHD7 COL11A1 COL2A1 FBN1 P3H2

Drugs & Therapeutics for Myopia

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

(show top 50) (show all 165)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tropicamide Approved, Investigational Phase 4 1508-75-4 5593
2
Fluorometholone Approved, Investigational Phase 4 426-13-1 9878
3
Loteprednol Approved, Experimental Phase 4 129260-79-3, 82034-46-6 444025 9865442
4
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
5
Ranibizumab Approved Phase 4 347396-82-1 459903
6
Ofloxacin Approved Phase 4 82419-36-1 4583
7
Levofloxacin Approved, Investigational Phase 4 100986-85-4 149096
8
Iodine Approved, Investigational Phase 4 7553-56-2 807
9
Povidone Approved Phase 4 9003-39-8 131751496
10
Povidone-iodine Approved Phase 4 25655-41-8
11
Lactitol Approved, Investigational Phase 4 585-86-4 157355
12
Nepafenac Approved, Investigational Phase 4 78281-72-8 151075
13
Propoxycaine Approved Phase 4 86-43-1
14
Atropine Approved, Vet_approved Phase 4 5908-99-6, 51-55-8 174174
15
Cadexomer iodine Experimental Phase 4 94820-09-4
16 Omega 3 Fatty Acid Phase 4
17 Cathartics Phase 4
18 Cholinesterase Inhibitors Phase 4
19
Echothiophate Iodide Phase 4 6736-03-4 10547
20 Carboxymethylcellulose Sodium Phase 4
21 Laxatives Phase 4
22 Anti-Allergic Agents Phase 4
23 Adrenergic Agonists Phase 4
24 Adrenergic Agents Phase 4
25 Angiogenesis Inhibitors Phase 4
26 Lubricant Eye Drops Phase 4
27 Anti-Inflammatory Agents Phase 4
28 Analgesics, Non-Narcotic Phase 4
29 Analgesics Phase 4
30 Antirheumatic Agents Phase 4
31 Cyclooxygenase Inhibitors Phase 4
32 Anti-Inflammatory Agents, Non-Steroidal Phase 4
33 Ketorolac Tromethamine Phase 4
34 Pharmaceutical Solutions Phase 4
35 Anesthetics, Local Phase 4
36 Proxymetacaine Phase 4
37 Anti-Arrhythmia Agents Phase 4
38 Respiratory System Agents Phase 4
39 Anti-Asthmatic Agents Phase 4
40 Parasympatholytics Phase 4
41 Cholinergic Antagonists Phase 4
42 Cholinergic Agents Phase 4
43 Anesthetics Phase 4
44 Mydriatics Phase 4
45 Muscarinic Antagonists Phase 4
46 Neurotransmitter Agents Phase 4
47 Bronchodilator Agents Phase 4
48 Ophthalmic Solutions Phase 4
49 Antibiotics, Antitubercular Phase 4
50 Alkylating Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 702)
# Name Status NCT ID Phase Drugs
1 Comparison of Next Generation Laser Techniques of Myopia Correction: iDesign vs. SMILE Unknown status NCT03001401 Phase 4
2 A Prospective Study to Evaluate the Raindrop Near Vision Inlay in Presbyopes Treated With Mitomycin C During Surgery and Extended Steroid After Surgery Unknown status NCT03242317 Phase 4 Mitomycin C
3 A Prospective Study to Evaluate the Raindrop Near Vision Inlay in Presbyopic Patients With Treatments to Optimize the Ocular Surface Before Implantation Unknown status NCT03126877 Phase 4 Mitomycin C
4 Ranibizumabe Intravitreal Injection for Myopic Choroidal Neovascularization Unknown status NCT01246089 Phase 4 ranibizumab injection
5 A Prospective Study to Evaluate the Raindrop Near Vision Inlay in Presbyopes Implanted Under a Corneal Flap or Within a Small-Incision Pocket Unknown status NCT03376412 Phase 4
6 Aflibercept Intravitreal Injection for Myopic Choroidal Neovascularization Unknown status NCT02033018 Phase 4 Aflibercept Injection
7 Echothiophate Iodide for the Prevention of Progression of Myopia Unknown status NCT02544529 Phase 4 Echothiophate Iodide 0.03% Ophthalmic Solution;Carboxymethylcellulose Sodium (0.5%)
8 Pilot Study of Prevention Myopia in Children With Low Concentration of Atropine Unknown status NCT00541177 Phase 4 atropine;tropicamide
9 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)
10 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
11 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
12 A Prospective Safety and Effectiveness Study of the 500 Hz Technolas Perfect Vision Excimer Laser Using LASIK Unknown status NCT02071576 Phase 4
13 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
14 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
15 A Prospective Study to Evaluate the Safety and Effectiveness of the Supracor Presbyopic Treatment Algorithm for Pseudophakic Eyes Using Lasik Completed NCT01387360 Phase 4
16 Bevacizumab Intravitreal for Myopic Choroidal Neovascularization Completed NCT00797992 Phase 4 Injection
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 A Prospective Evaluation of Outcomes Following Wavefront Optimized or Wavefront Guided Lasik Procedure in Low to Moderate Myopic Patients Completed NCT01173198 Phase 4
19 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
20 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
21 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
22 SD-OCT-guided Intravitreal Ranibizumab Treatment in Choroidal Neovascularization Due to Myopia Completed NCT03409250 Phase 4 Ranibizumab, Lucentis
23 Effect of Orthokeratology on Myopia Progression in Chinese Children Completed NCT02186184 Phase 4
24 A Prospective, Randomised Trial of Photo-Refractive Keratectomy (PRK) and Laser-in-Situ-Keratomileusis (LASIK) for Correction of Myopia Completed NCT00404105 Phase 4
25 Dosing Strategy of Intravitreal Ranibizumab for Myopia Choroidal Neovascularization: a Single Center Randomized Prospective Study Completed NCT03042871 Phase 4 0.5mg intravitreal ranibizumab
26 Effect of Preoperative Pupil Size on Quality of Vision After Wavefront-Guided LASIK Completed NCT00889941 Phase 4
27 A Single Center Prospective Evaluation of the Post-LASIK Flap Thickness of the FS200 Femtosecond Laser Flap Completed NCT01693939 Phase 4
28 Clinical Investigation of the Vision-R800 Device. Understanding the Value of High Precision Refractions and Lenses to Optometrists and Patients. Phase 2 Completed NCT04208750 Phase 4
29 Infiltrative Events During Silicone Hydrogel Daily Contact Lens (Daily Wear Corneal Infiltrative Event (DWCIE) Study) Completed NCT00937105 Phase 4
30 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®
31 Efficacy of PEG-400 and Systane Artificial Tears (Alcon) on Quality of Vision Completed NCT00627302 Phase 4 PEG-400;Systane
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 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
34 The Effects of Low Dose Atropine on Choroidal Thickness Completed NCT03544827 Phase 4 Atropine;Atropine
35 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
36 Corneal and Conjunctival Sensitivity and Staining Study Completed NCT00455455 Phase 4 Optifree RepleniSH Multipurpose Disinfecting Solution;ReNu Multiplus Multipurpose Solution
37 Effects of Contact Lens Care Regimens on the Corneal Epithelium Completed NCT00349882 Phase 4 Marketed multipurpose disinfection regimen
38 Double Masked Evaluation of Acular LS Versus Nevanac for Postoperative Pain Control in Eyes Undergoing PRK Completed NCT00347204 Phase 4 ketorolac (Acular LS);Nepafenac (Nevanac)
39 Long-term Effects of Laser Refractive Surgery Completed NCT00350246 Phase 4
40 A Prospective, Randomized Comparison of Fellow Eyes Undergoing Wavefront-guided PRK Versus Wavefront-optimized PRK Using the Alcon Allegretto Eye-Q 400 Excimer Laser Completed NCT02091934 Phase 4
41 The Influence of Atropine on Choroidal Thickness Completed NCT03158142 Phase 4 Atropine Sulfate 1% Oph Soln
42 A Prospective, Randomized Comparison of SMILE Surgery to Wavefront-guided LASIK Surgery Completed NCT03067077 Phase 4
43 Evaluation of Quality of Vision and Visual Outcomes With Bilateral Implantation of the AcrySof® Vivity Intraocular Lens With a Target of Slight Myopia in the Non-dominant Eye Recruiting NCT04482439 Phase 4
44 Efficacy and Safety of Anesthetic Impregnated Bandage Soft Contact Lens (BSCL) in Pain Management After Photorefractive Keratectomy (PRK). Recruiting NCT04283331 Phase 4 Proparacaine Ophthalmic
45 A Prospective Randomized Comparison of the AMO CustomVue to the Alcon Wavelight in Patients Undergoing LASIK Active, not recruiting NCT02565537 Phase 4
46 A Prospective Eye to Eye Comparison of LASIK Using the Alcon Allegretto Wavefront-Guided Excimer Laser Versus AMO Visx Wavefront-Guided Excimer Laser Active, not recruiting NCT01454843 Phase 4
47 A Prospective Randomized Eye to Eye Comparison of Fellow Eyes Undergoing Lasik With the IntraLase(TM) FS Versus PRK Active, not recruiting NCT01140594 Phase 4
48 Post Photorefractive Keratectomy (PRK) Use of an Eye Shield for Maintaining Vision and Mitigating Pain Active, not recruiting NCT01592643 Phase 4
49 Atropine for Children and Adolescent Myopia Progression Study (ACAMP) Enrolling by invitation NCT03949101 Phase 4 Atropine Sulfate 1 % Ophthalmic Ointment and Atropine Sulfate 0.01% Eye Drop;atropine 0.01% eye drop
50 A Prospective Study To Evaluate The Raindrop Near Vision Inlay In Presybopic or Pseudophakic Patients Treated With Mitomycin C Following Femtosecond Flap Creation. Terminated NCT03101501 Phase 4 Mitomycin c

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 (disease) 29

Anatomical Context for Myopia

MalaCards organs/tissues related to Myopia:

40
Eye, Retina, Endothelial, Kidney, Skin, Cortex, Bone

Publications for Myopia

Articles related to Myopia:

(show top 50) (show all 16659)
# Title Authors PMID Year
1
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
2
Association analysis of retinoic acid receptor beta (RARbeta) gene with high myopia in Chinese subjects. 61 54
20508731 2010
3
Mutations in RPGR and RP2 of Chinese patients with X-linked retinitis pigmentosa. 54 61
20021257 2010
4
AC and AG dinucleotide repeats in the PAX6 P1 promoter are associated with high myopia. 61 54
19907666 2009
5
The association of haplotype at the lumican gene with high myopia susceptibility in Taiwanese patients. 54 61
19616852 2009
6
COL1A1 and COL2A1 genes and myopia susceptibility: evidence of association and suggestive linkage to the COL2A1 locus. 61 54
19387081 2009
7
Sclera-related gene polymorphisms in high myopia. 61 54
19710942 2009
8
Common variant in myocilin gene is associated with high myopia in isolated population of Korcula Island, Croatia. 54 61
19260140 2009
9
Absence of association between COL1A1 polymorphisms and high myopia in the Japanese population. 61 54
18836165 2009
10
Association of PAX6 polymorphisms with high myopia in Han Chinese nuclear families. 61 54
19124844 2009
11
Myocilin polymorphisms and high myopia in subjects of European origin. 61 54
19180258 2009
12
Regulation of pigment epithelium-derived factor production and release by retinal glial (Müller) cells under hypoxia. 54 61
18676622 2008
13
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. 54 61
18728623 2008
14
Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population. 61 54
18655112 2008
15
A PAX6 gene polymorphism is associated with genetic predisposition to extreme myopia. 61 54
17948041 2008
16
Assessment of TGIF as a candidate gene for myopia. 54 61
18172074 2008
17
Application of fluorescence difference gel electrophoresis technology in searching for protein biomarkers in chick myopia. 61 54
17924678 2007
18
PAX6 mutations may be associated with high myopia. 61 54
17896318 2007
19
The COL1A1 gene and high myopia susceptibility in Japanese. 54 61
17557158 2007
20
A population-based epidemiological and genetic study of X-linked retinitis pigmentosa. 61 54
17724181 2007
21
Candidate gene and locus analysis of myopia. 61 54
17653045 2007
22
Linkage and association of myocilin (MYOC) polymorphisms with high myopia in a Chinese population. 61 54
17438518 2007
23
Novel mutations in the small leucine-rich repeat protein/proteoglycan (SLRP) genes in high myopia. 54 61
17117407 2007
24
Mutations in NYX of individuals with high myopia, but without night blindness. 54 61
17392683 2007
25
Effects of intravitreally and intraperitoneally injected atropine on two types of experimental myopia in chicken. 54 61
17101130 2007
26
Systematic assessment of the tagging polymorphisms of the COL1A1 gene for high myopia. 61 54
17273809 2007
27
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
28
Basic fibroblast growth factor suppresses retinal neuronal apoptosis in form-deprivation myopia in chicks. 54 61
17114124 2006
29
Mutational analysis of RPGR and RP2 genes in Japanese patients with retinitis pigmentosa: identification of four mutations. 61 54
17093403 2006
30
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
31
[Establishing the linkage disequilibrium pattern for the all-trans-retinol dehydrogenase (RDH8) gene]. 54 61
17081426 2006
32
Aqueous humor levels of vascular endothelial growth factor and pigment epithelium-derived factor in polypoidal choroidal vasculopathy and choroidal neovascularization. 61 54
16490490 2006
33
Retinal serotonin, eye growth and myopia development in chick. 61 54
15949800 2005
34
Low levels of pigment epithelium-derived factor in highly myopic eyes with chorioretinal atrophy. 54 61
16310484 2005
35
Magnification-corrected indirect biomicroscopy of the optic nerve head. 61 54
15455240 2005
36
Exclusion of lumican and fibromodulin as candidate genes in MYP3 linked high grade myopia. 61 54
15592176 2004
37
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. 54 61
15307048 2004
38
Cohen syndrome in the Ohio Amish. 54 61
15211651 2004
39
Sequence variants in the transforming growth beta-induced factor (TGIF) gene are not associated with high myopia. 61 54
15223781 2004
40
Using denaturing HPLC for SNP discovery and genotyping, and establishing the linkage disequilibrium pattern for the all-trans-retinol dehydrogenase (RDH8) gene. 54 61
14661078 2004
41
Pax-6 expression in posthatch chick retina during and recovery from form-deprivation myopia. 61 54
15855761 2004
42
[The SNPs analysis of encoding sequence of interacting factor gene in Chinese population]. 54 61
14556208 2003
43
Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene. 54 61
12939326 2003
44
A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia. 54 61
12925722 2003
45
TGFbeta-induced factor: a candidate gene for high myopia. 54 61
12601022 2003
46
[Comparison of PKR and LASIK for the treatment of low myopia: statistic study of refractive and optic results]. 61 54
11965115 2002
47
Novel deletion of the RPGR gene in a Chinese family with X-linked retinitis pigmentosa. 61 54
11559860 2001
48
Clinical features and a follow-up study in a family with X-linked progressive cone-rod dystrophy. 54 61
11453854 2001
49
Audiovestibular phenotype associated with a COL11A1 mutation in Marshall syndrome. 61 54
10889003 2000
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

Variations for Myopia

ClinVar genetic disease variations for Myopia:

6 (show all 30)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FBN1 NM_000138.4(FBN1):c.6800A>T (p.Asn2267Ile) SNV Pathogenic 373981 rs1057518812 GRCh37: 15:48722939-48722939
GRCh38: 15:48430742-48430742
2 COL2A1 NM_001844.5(COL2A1):c.2710C>T (p.Arg904Cys) SNV Pathogenic 17379 rs121912882 GRCh37: 12:48373317-48373317
GRCh38: 12:47979534-47979534
3 CHD7 NM_017780.4(CHD7):c.6892C>T (p.Gln2298Ter) SNV Pathogenic 374090 rs1057518891 GRCh37: 8:61767038-61767038
GRCh38: 8:60854479-60854479
4 overlap with 22 genes GRCh37/hg19 17p11.2(chr17:16936603-18184130) copy number loss Pathogenic 523258 GRCh37: 17:16936603-18184130
GRCh38:
5 TYR NM_000372.5(TYR):c.1A>G (p.Met1Val) SNV Pathogenic 3807 rs28940881 GRCh37: 11:88911122-88911122
GRCh38: 11:89177954-89177954
6 CEMIP2 NM_013390.3(CEMIP2):c.1358G>A (p.Cys453Tyr) SNV Pathogenic 827846 GRCh37: 9:74349757-74349757
GRCh38: 9:71734841-71734841
7 CEMIP2 NM_013390.3(CEMIP2):c.3144G>A (p.Trp1048Ter) SNV Pathogenic 827847 GRCh37: 9:74319561-74319561
GRCh38: 9:71704645-71704645
8 FBN1 NM_000138.5(FBN1):c.3757_3760del (p.Gln1253fs) Deletion Pathogenic 978559 GRCh37: 15:48776093-48776096
GRCh38: 15:48483896-48483899
9 TYR NM_000372.5(TYR):c.1037-7T>A SNV Pathogenic 99527 rs61754381 GRCh37: 11:88960984-88960984
GRCh38: 11:89227816-89227816
10 FBN1 NM_000138.4(FBN1):c.840_843del (p.Asn280fs) Deletion Pathogenic 374115 rs1057518909 GRCh37: 15:48826296-48826299
GRCh38: 15:48534099-48534102
11 VPS13B NM_017890.4(VPS13B):c.11774_11777dup (p.Val3928fs) Duplication Likely pathogenic 812993 rs1364947213 GRCh37: 8:100883875-100883876
GRCh38: 8:99871647-99871648
12 VPS13B NM_017890.4(VPS13B):c.4820+1G>A SNV Likely pathogenic 812992 rs1469729130 GRCh37: 8:100533239-100533239
GRCh38: 8:99521011-99521011
13 RSRC2 NM_023012.6(RSRC2):c.425G>A (p.Arg142Gln) SNV Likely pathogenic 242899 rs752134549 GRCh37: 12:123001951-123001951
GRCh38: 12:122517404-122517404
14 CACNA1F NM_001256789.3(CACNA1F):c.694A>T (p.Lys232Ter) SNV Likely pathogenic 374004 rs1057518829 GRCh37: X:49086805-49086805
GRCh38: X:49230343-49230343
15 SLC25A4 NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp) SNV Likely pathogenic 18249 rs121912683 GRCh37: 4:186066174-186066174
GRCh38: 4:185145020-185145020
16 COL11A1 NM_001854.4(COL11A1):c.4048_4065del (p.Ser1350_Pro1355del) Deletion Likely pathogenic 523552 rs1553200431 GRCh37: 1:103377736-103377753
GRCh38: 1:102912180-102912197
17 COL4A4 NM_000092.5(COL4A4):c.2320G>C SNV Likely pathogenic 242442 rs569681869 GRCh37: 2:227924184-227924184
GRCh38: 2:227059468-227059468
18 COL4A4 NM_000092.4(COL4A4):c.4394G>A (p.Gly1465Asp) SNV Likely pathogenic 523324 rs533297350 GRCh37: 2:227875157-227875157
GRCh38: 2:227010441-227010441
19 POGZ NM_015100.4(POGZ):c.402_409dup (p.His137fs) Duplication Likely pathogenic 373957 rs1057518799 GRCh37: 1:151403191-151403192
GRCh38: 1:151430715-151430716
20 FBN1 NM_000138.4(FBN1):c.1481G>T (p.Cys494Phe) SNV Likely pathogenic 374079 rs1057518881 GRCh37: 15:48805853-48805853
GRCh38: 15:48513656-48513656
21 MYH11 , NDE1 NM_002474.3(MYH11):c.4360G>C (p.Asp1454His) SNV Likely pathogenic 374162 rs1057518938 GRCh37: 16:15818023-15818023
GRCh38: 16:15724166-15724166
22 AFF2 NM_002025.4(AFF2):c.3209A>G (p.His1070Arg) SNV Uncertain significance 373939 rs1057518785 GRCh37: X:148049164-148049164
GRCh38: X:148967634-148967634
23 EP300 NM_001429.4(EP300):c.2053+4A>T SNV Uncertain significance 374087 rs1057518889 GRCh37: 22:41537230-41537230
GRCh38: 22:41141226-41141226
24 SLC39A13 NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met) SNV Uncertain significance 196579 rs140574574 GRCh37: 11:47433573-47433573
GRCh38: 11:47412022-47412022
25 ZNF469 NM_001367624.2(ZNF469):c.2569A>G (p.Asn857Asp) SNV Uncertain significance 523411 rs1555518955 GRCh37: 16:88496447-88496447
GRCh38: 16:88430039-88430039
26 ZNF469 NM_001367624.2(ZNF469):c.470G>A (p.Gly157Glu) SNV Uncertain significance 320853 rs781096189 GRCh37: 16:88494348-88494348
GRCh38: 16:88427940-88427940
27 ZNF469 NM_001367624.2(ZNF469):c.9532G>A (p.Gly3178Ser) SNV Uncertain significance 523412 rs887755283 GRCh37: 16:88503410-88503410
GRCh38: 16:88437002-88437002
28 FLNA NM_001110556.2(FLNA):c.3934C>T (p.Arg1312Cys) SNV Uncertain significance 617640 rs781928289 GRCh37: X:153588145-153588145
GRCh38: X:154359777-154359777
29 TNC NM_002160.4(TNC):c.890A>G (p.Asn297Ser) SNV Uncertain significance 523449 rs1554717312 GRCh37: 9:117849120-117849120
GRCh38: 9:115086841-115086841
30 MT-TL1 NC_012920.1:m.3275C>T SNV Uncertain significance 370045 rs1057516057 GRCh37: MT:3275-3275
GRCh38: MT:3275-3275

Expression for Myopia

Search GEO for disease gene expression data for Myopia.

Pathways for Myopia

GO Terms for Myopia

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 extracellular matrix GO:0031012 9.26 NYX FBN1 COL2A1 COL11A1
3 basement membrane GO:0005604 8.8 P3H2 FBN1 COL2A1

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

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.58 COL2A1 COL11A1 CHD7
2 skeletal system development GO:0001501 9.54 FBN1 COL2A1 CHD7
3 inner ear morphogenesis GO:0042472 9.33 COL2A1 COL11A1 CHD7
4 cartilage condensation GO:0001502 9.32 COL2A1 COL11A1
5 proteoglycan metabolic process GO:0006029 9.26 COL2A1 COL11A1
6 heart morphogenesis GO:0003007 9.13 COL2A1 COL11A1 CHD7
7 visual perception GO:0007601 9.02 TYR NYX COL2A1 COL11A1 CACNA1F

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

Sources for Myopia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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