MCID: AST006
MIFTS: 48

Astigmatism

Categories: Eye diseases, Neuronal diseases
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Aliases & Classifications for Astigmatism

Summaries for Astigmatism

OMIM®: 57 Astigmatism (from the Greek 'a' meaning absence and 'stigma' meaning point) is a condition in which the parallel rays of light entering the eye through the refractive media are not focused on a single point. Both corneal and noncorneal factors contribute to refractive astigmatism. Corneal astigmatism is mainly the result of an aspheric anterior surface of the cornea, which can be measured readily by means of a keratometer; in a small fraction of cases (approximately 1 in 10) the effect is neutralized by the back surface. The curvature of the back surface of the cornea is not considered in most studies, because it is more difficult to measure; moreover, in the case of severe corneal astigmatism, there is evidence that both surfaces have the same configuration. Noncorneal factors are errors in the curvature of the 2 surfaces of the crystalline lens, irregularity in the refractive index of the lens, and an eccentric lens position. Since the cornea is the dominant component of the eye's refracting system, a highly astigmatic cornea is likely to result in a similarly astigmatic ocular refraction (summary by Clementi et al., 1998). (603047) (Updated 08-Dec-2022)

MalaCards based summary: Astigmatism is related to irregular astigmatism and aland island eye disease, and has symptoms including blurred vision and aniseikonia. An important gene associated with Astigmatism is ANKRD11 (Ankyrin Repeat Domain Containing 11), and among its related pathways/superpathways is Proteoglycan biosynthesis. The drugs Hyaluronic acid and Dipivefrin have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and endothelial, and related phenotype is behavior/neurological.

Disease Ontology: 11 A refractive error characterized by the optics of the eye to focus a point object into a sharp focused image on the retina, has symptom blurred vision.

Wikipedia: 75 Astigmatism is a type of refractive error due to rotational asymmetry in the eye's refractive power.... more...

Related Diseases for Astigmatism

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

(show top 50) (show all 277)
# Related Disease Score Top Affiliating Genes
1 irregular astigmatism 32.2 KRT3 KRT12
2 aland island eye disease 31.8 GPR143 CACNA1F
3 nystagmus 6, congenital, x-linked 31.8 GPR143 FRMD7
4 nystagmus 3, congenital, autosomal dominant 31.7 GPR143 FRMD7
5 nystagmus 7, congenital, autosomal dominant 31.6 GPR143 FRMD7
6 corneal dystrophy, meesmann, 1 31.3 KRT3 KRT12
7 strabismus 30.9 XYLT1 NRXN1 GPR143 FRMD7
8 exotropia 30.6 XYLT1 GPR143 FRMD7
9 recurrent corneal erosion 30.4 KRT3 KRT12
10 pathologic nystagmus 30.4 GPR143 FRMD7 CACNA1F
11 keratopathy 30.4 KRT3 KRT12
12 esotropia 30.3 XYLT1 FRMD7 ANKRD11
13 corneal degeneration 30.2 KRT3 KRT12
14 congenital nystagmus 30.1 GPR143 FRMD7 CACNA1F
15 epithelial basement membrane dystrophy 30.1 KRT3 KRT12
16 pseudopterygium 29.9 KRT3 KRT12
17 conjunctival squamous cell carcinoma 29.8 KRT3 KRT12
18 aniridia 1 29.4 VAX2 KRT3 KRT12 GPR143 FRMD7
19 refractive error 11.3
20 regular astigmatism 11.3
21 keratoconus 11.2
22 myopia 11.2
23 cataract 11.1
24 amblyopia 11.0
25 pellucid marginal degeneration 11.0
26 isolated ectopia lentis 11.0
27 lymphedema-distichiasis syndrome 11.0
28 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 11.0
29 ectopia lentis et pupillae 11.0
30 pilodental dysplasia with refractive errors 11.0
31 nystagmus 1, congenital, x-linked 11.0
32 rare hyperopia and astigmatism 11.0
33 refractive amblyopia 10.9
34 ptosis 10.9
35 keratoconus 8 10.9
36 keratoconus 1 10.9
37 retinitis pigmentosa 10.9
38 myhre syndrome 10.8
39 lacrimal duct defect 10.8
40 microcoria, congenital 10.8
41 nystagmus 2, congenital, autosomal dominant 10.8
42 keratoconus posticus circumscriptus 10.8
43 macrocephaly/megalencephaly syndrome, autosomal recessive 10.8
44 nystagmus 5, congenital, x-linked 10.8
45 bornholm eye disease 10.8
46 mental retardation, obesity, mandibular prognathism, and eye and skin anomalies 10.8
47 keratoconus 3 10.8
48 chromosome 17q12 duplication syndrome 10.8
49 keratoconus 5 10.8
50 spastic paraplegia 75, autosomal recessive 10.8

Graphical network of the top 20 diseases related to Astigmatism:



Diseases related to Astigmatism

Symptoms & Phenotypes for Astigmatism

Clinical features from OMIM®:

603047 (Updated 08-Dec-2022)

Symptoms:

11
  • blurred vision

UMLS symptoms related to Astigmatism:


aniseikonia

MGI Mouse Phenotypes related to Astigmatism:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.44 ACP2 ADAMTSL4 ANKRD11 BICC1 CACNA1F CHSY1

Drugs & Therapeutics for Astigmatism

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

(show top 50) (show all 63)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
2
Dipivefrin Approved Phase 4 52365-63-6 3105
3
Propoxycaine Approved Phase 4 86-43-1 6843
4 Anesthetics Phase 4
5 Proxymetacaine Phase 4
6 Anesthetics, Local Phase 4
7
Moxifloxacin Approved, Investigational Phase 2, Phase 3 186826-86-8, 354812-41-2, 151096-09-2 152946
8 Anti-Bacterial Agents Phase 2, Phase 3
9 Antibiotics, Antitubercular Phase 2, Phase 3
10 Norgestimate, ethinyl estradiol drug combination Phase 2, Phase 3
11 Tobramycin, Dexamethasone Drug Combination Phase 2, Phase 3
12 Protective Agents Phase 3
13 Vasodilator Agents Phase 3
14 Polymethyl Methacrylate Phase 3
15
Folic acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
16
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 1, Phase 2 83-88-5 493570
17 Folate Phase 1, Phase 2
18 Vitamins Phase 1, Phase 2
19 Blood Substitutes Phase 1, Phase 2
20 Vitamin B9 Phase 1, Phase 2
21 Trace Elements Phase 1, Phase 2
22 Photosensitizing Agents Phase 1, Phase 2
23
Vitamin B2 Phase 1, Phase 2
24 Vitamin B Complex Phase 1, Phase 2
25 Anticoagulants Phase 1, Phase 2
26 Ophthalmic Solutions Phase 1, Phase 2
27 Plasma Substitutes Phase 1, Phase 2
28 Dermatologic Agents Phase 1, Phase 2
29 Micronutrients Phase 1, Phase 2
30 Dextrans Phase 1, Phase 2
31
Phenylephrine Approved 59-42-7 6041
32
Tropicamide Approved, Investigational 1508-75-4 5593
33
Oxymetazoline Approved, Investigational 1491-59-4 4636
34
Coal tar Approved 8007-45-2
35
Mitomycin Approved 50-07-7 5746
36
Hydrogen peroxide Approved, Vet_approved 7722-84-1 784
37
Levofloxacin Approved, Investigational 100986-85-4 149096
38
Dexamethasone acetate Approved, Investigational, Vet_approved 1177-87-3 3680
39
Dexamethasone Approved, Investigational, Vet_approved 50-02-2 3003 5743
40
Ofloxacin Approved 82419-36-1 4583
41
Tobramycin Approved, Investigational 32986-56-4 36294
42
Ethanol Approved 64-17-5 702
43 Anti-Inflammatory Agents
44 Alkylating Agents
45 Contact Lens Solutions
46 Antineoplastic Agents, Hormonal
47 Neurotransmitter Agents
48 Adrenergic Agonists
49 Adrenergic Agents
50 Adjuvants, Immunologic

Interventional clinical trials:

(show top 50) (show all 323)
# Name Status NCT ID Phase Drugs
1 A Randomised Intra-patient Comparison of Closed Loop and Plate Haptic Toric, Aspheric, Aberration Neutral, Hydrophilic Acrylic Intraocular Lenses in Patients With Bilateral Astigmatism Unknown status NCT02264457 Phase 4
2 PHASE IV STUDY # 1162. Prospective Investigation of SUPRACOR Visual Outcomes of Presbyopic Hyperopic Patients With and Without Astigmatism Unknown status NCT01628146 Phase 4
3 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
4 Effect of Posterior Corneal Toricity on Refractive Outcome of Pseudophakia Unknown status NCT01554761 Phase 4
5 Clinical Evaluation of Toric Intraocular Lens Made by Aurolab Unknown status NCT01396616 Phase 4
6 Monocular Study to Evaluate the Safety and Effectiveness of the Akreos™ Toric IOL When Used to Correct Primary Aphakia With the Reduction of Astigmatism Completed NCT00825513 Phase 4
7 Evaluation of the Acrysof Toric Model SN60T3 Intraocular Lens in Patients With Predicted Residual Corneal Astigmatism Between 0.75 and 1.03 Diopters (D) Completed NCT00732030 Phase 4
8 Incisional Correction of Corneal Astigmatism During Phacoemulsification Completed NCT04418986 Phase 4
9 Intrastromal Corneal Ring Segment Implantation for High Astigmatism on Postkeratoplasty Eyes Completed NCT01018797 Phase 4
10 Use of Toric Intraocular Lens to Neutralize Keratometric Astigmatism Completed NCT00925886 Phase 4
11 Comparison of Toric IOL Implantation and Opposite Clear Corneal Incision During Cataract Surgery to Correct Corneal Astigmatism Completed NCT01763151 Phase 4
12 Phase IV Study_Prospective Evaluation of the Effectiveness of the Femtosecond Laser-assisted Refractive Astigmatic Keratotomy Following the Cataract Surgery. Completed NCT01885780 Phase 4
13 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
14 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
15 Randomized Comparison of the Abbott WHITESTAR Signature System With Ellips Tranversal Ultrasound vs. the Alcon Infiniti With the Ozil Torsional Handpiece in Phacoemulsification: A Contralaterally-Controlled Trial Completed NCT01279031 Phase 4
16 A Prospective Eye to Eye Comparison of LASIK Using the Alcon Allegretto Wavefront-Guided Excimer Laser Versus AMO Visx Wavefront-Guided Excimer Laser Completed NCT01454843 Phase 4
17 Femtosecond Laser-assisted Astigmatism Treatment (FLAAT) Recruiting NCT04321226 Phase 4
18 Efficacy and Safety of Anesthetic Impregnated Bandage Soft Contact Lens (BSCL) in Pain Management After Photorefractive Keratectomy (PRK). Recruiting NCT04283331 Phase 4 Proparacaine Ophthalmic
19 Patient Satisfaction With Contoura Vision Topography-Guided LASIK Recruiting NCT04903301 Phase 4
20 A Prospective Randomized Comparison of the AMO CustomVue to the Alcon Wavelight in Patients Undergoing LASIK Active, not recruiting NCT02565537 Phase 4
21 A Prospective Study To Evaluate The Safety And Effectiveness Of The SUPRACOR Presbyopic Treatment Algorithm For Myopia And Myopic Astigmatism Using LASIK Unknown status NCT01404884 Phase 3
22 Intrastromal Correction of Ametropia by a Femtosecond Laser Unknown status NCT00928122 Phase 3
23 Comparison of Cross-cylinder and Conventional PRK for Laser Correction of Astigmatism: A Randomized Clinical Trial. Completed NCT00663923 Phase 3
24 A Prospective Multicenter, Study to Evaluate the Safety and Effectiveness of the Presbyopia Algorithm for Hyperopia and Hyperopic Astigmatism Using LASIK Completed NCT00910403 Phase 3
25 Endothelial Cell Loss Following Toric ICL Implantation for Correction of Myopia and Astigmatism After Penetrating Keratoplasty Completed NCT04457063 Phase 2, Phase 3
26 The Berkeley Orthokeratology Study Completed NCT00000123 Phase 3
27 A Prospective Study of Femtosecond Laser Intracorneal Lensectomi in Treatment of Moderate to High Myopia Completed NCT01673503 Phase 3
28 Study Comparing a Therapeutic Lens Used Alone to a Therapeutic Lens Used in Association With an Amniotic Membrane Treated by the AMTRIX Process in Postoperative Care After Photorefractive Keratectomy (PRK) Terminated NCT05247658 Phase 3
29 Comparative Evaluation of Corneal Staining With Balafilcon A Lenses and Two Multi-Purpose Solutions Completed NCT01024855 Phase 1, Phase 2
30 Phase 1 Study of Ocular Aberrations and Visual Performance of Eyes Implanted With Three Multifocal Intra-ocular Lenses Completed NCT00876707 Phase 1, Phase 2
31 A Multi-Center Prospective Study to Evaluate the Safety and Effectiveness of Arcuate Incisions Performed With the IntraLase iFS Femtosecond Laser System Completed NCT01348854 Phase 2
32 A Multi-Center, Randomized, Controlled Evaluation of the Safety and Efficacy of LASIK With Cross-linking Performed With the KXL System and Photrexa ZD™ (Riboflavin Ophthalmic Solution) Compared to LASIK Alone for Hyperopia and Hyperopic Astigmatism Terminated NCT01893359 Phase 1, Phase 2 riboflavin ophthalmic solution, 0% dextran
33 Assessing the Astigmatism Reducing Effect With Toric IOLs in Eyeswith Low Astigmatism Unknown status NCT03538964
34 The Contribution of Posterior Corneal Astigmatism to Total Corneal Astigmatism Using Scheimpflug Analyzer (Pentacam ) in a Sample of Egyptian Population Unknown status NCT04393740
35 Influence of Residual Astigmatism on Visual Acuity in Patients Undergoing Cataract Surgery With Trifocal Intraocular Lens Implantation Unknown status NCT04387721
36 The Research of the Neural Mechanisms Underlying Astigmatism Unknown status NCT03735602
37 Limbal Relaxing Incisions Versus Toric Intraocular Lens for Keratometric Astigmatism <2.5 Diopters in Patients Undergoing Cataract Surgery and Intraocular Lens Implantation. Unknown status NCT02067429
38 Comparison Between Femtosecond Assisted LASIK and Small Incision Lenticule Extraction (SMILE) for Correction of Myopia and Myopic Astigmatism Unknown status NCT02962544
39 Manually Performed Limbal Relaxing Incisions vs Femtosecond Laser-guided Astigmatic Keratotomy for Correction of Corneal Astigmatism After Phacoemulsification Unknown status NCT03264534
40 Randomized, Prospective Comparison of the Outcome of TICL and Q Value Customized LASIK for the Correction of Myopia With Astigmatism Unknown status NCT01088568
41 Toric Intraocular Lens (IOL) Implantation Compared to Incisional Surgery to Correct Corneal Astigmatism as Part of Cataract Surgery - A Randomised Controlled Clinical Trial Unknown status NCT03633851
42 Study to Evaluate the Safety and Efficacy of HI-BRITE Large Diameter Rigid Gas Permeable Contact Lens (Hexafocon b) Test When Worn on a Daily Wear Basis in the Correction of Myopia/Hyperopia/Astigmatism/Presbyopia/ and Irregular Cornea. Unknown status NCT02812316
43 A 180 Day, Multicenter Study to Evaluate the Clinical Performance of SynergEyes A2 Hybrid Contact Lenses for Daily Wear Use in the Correction of Refractive Error With or Without Astigmatism in Non-diseased Eyes Unknown status NCT01058629
44 Comparison of Anterior and Posterior Corneal Astigmatism in Patients With Keratoconus and Controls Unknown status NCT03450213
45 Use of the VisuMax Femtosecond Laser Lenticule Removal Procedure for the Correction of Hyperopia With or Without Astigmatism Unknown status NCT03431571
46 A Combined Retrospective and Prospective Chart Review Analysis of Visual Outcomes Following Excimer Laser Vision Correction Unknown status NCT00778570
47 An Investigator-Initiated Trials on the Efficacy and Stability of AT TORBI 709M 4-haptic Toric IOL in Cataract Surgery Unknown status NCT02618018
48 Compare Anterior Chamber Biometry in Healthy and Post-LASIK Pati Unknown status NCT00838734
49 Randomised, Controlled Study Comparing Use of "Off the Shelf" Toric Lenses, With Set Cylindrical Corrections (2.00D or 4.00D) and Combined Limbal Relaxing Incisions and/or Off-axis Lens Rotation, With Fully Targeted Toric Lens Correction. Unknown status NCT04122651
50 The MORE Study: Manifest vs. Online Refraction Evaluation. A Clinical Validation of Online Refraction Unknown status NCT03313921

Search NIH Clinical Center for Astigmatism

Cochrane evidence based reviews: astigmatism

Genetic Tests for Astigmatism

Genetic tests related to Astigmatism:

# Genetic test Affiliating Genes
1 Astigmatism 28

Anatomical Context for Astigmatism

Organs/tissues related to Astigmatism:

MalaCards : Eye, Retina, Endothelial, Brain, Pons, Pituitary, Skin

Publications for Astigmatism

Articles related to Astigmatism:

(show top 50) (show all 11543)
# Title Authors PMID Year
1
Inheritance of astigmatism: evidence for a major autosomal dominant locus. 62 57
9718344 1998
2
Astigmatism in 72 twin pairs. 62 57
2805714 1989
3
Genetic analysis of indices of corneal power and corneal astigmatism in human populations with varying incidences of strabismus. 62 57
1184316 1975
4
Ocular phenotype correlations in patients with TWIST versus FGFR3 genetic mutations. 53 62
17070479 2006
5
[Comparison of PKR and LASIK for the treatment of low myopia: statistic study of refractive and optic results]. 53 62
11965115 2002
6
[Accuracy and predictability of photorefractive keratectomy for astigmatism correction]. 53 62
11877233 1998
7
[Surgery in myopic astigmatism: arciform keratotomy and PKR versus PARK]. 53 62
9554138 1997
8
Effects of a new-generation hybrid contact lens on visual performance and vision-related quality of life in patients with keratoconus. 62
35170647 2023
9
Management of Late Descemet's Membrane Detachment After Penetrating Keratoplasty in Keratoconus. 62
35389909 2022
10
Early LASIK flap displacement without signs of infection. 62
36449679 2022
11
Delayed Diagnosis of Amblyopia in Children of Lower Socioeconomic Families: The Hong Kong Children Eye Study. 62
34620042 2022
12
Distribution and Clinical Characteristics of Periorbital Infantile Hemangiomas. 62
36473202 2022
13
Analysis of corneal tomography in select Black and LatinX children. 62
35606297 2022
14
Refractive status, biometric components, and functional outcomes of patients with threshold retinopathy of prematurity: systemic review and a 17-year longitudinal study. 62
35729410 2022
15
[Fuchs' endothelial dystrophy, cataract and astigmatism : A comparison of correction of astigmatism with DMEK plus simultaneous vs. sequential cataract surgery with toric IOL implantation]. 62
35238953 2022
16
Descemet stripping only in Fuchs' endothelial dystrophy without use of topical Rho-kinase inhibitors: 5-year follow-up. 62
34283965 2022
17
Comparison of wavefront-optimized and corneal wavefront-guided transPRK for high-order aberrations (>0.35 μm) in myopia. 62
35849545 2022
18
SMILE after DALK to reduce residual refraction: two-year results. 62
35776392 2022
19
Effect of incision location on with-the-rule astigmatism correction after SMILE. 62
36464663 2022
20
Observation on the clinical effect of femtosecond laser small incision lens extraction in the correction of myopia and astigmatism. 62
34790915 2022
21
Intraocular lens power calculation in patients with irregular astigmatism. 62
35776172 2022
22
Hypo-osmolar accelerated corneal crosslinking on resultant sub-400 μm topography-guided excimer regularized keratoconus corneas. 62
35786809 2022
23
Comparison of stereoacuity in patients of anisometropia, isometropia and emmetropia. 62
36453354 2022
24
Long-Term Vault Changes in Different Levels and Factors Affecting Vault Change After Implantation of Implantable Collamer Lens with a Central Hole. 62
36335511 2022
25
Endoexpression technique of nucleus delivery in manual small-incision cataract surgery. 62
36308159 2022
26
Tenon Patch Graft With Vascularized Conjunctival Flap for Management of Corneal Perforation. 62
36219216 2022
27
Analysis of perioperative problems related to intraocular Implantable Collamer Lens (ICL) implantation. 62
35731355 2022
28
Comparative study of anatomical and functional recovery of eye along with patient satisfaction score after small-incision cataract surgery and phacoemulsification cataract surgery. 62
36308132 2022
29
Visual outcome after manual small-incision cataract surgery by viscoexpression technique. 62
36308130 2022
30
Evaluation of scleral incisions and their effects on corneal curvature in manual small-incision cataract surgery. 62
36308112 2022
31
Postoperative astigmatic considerations in manual small-incision cataract surgery - A review. 62
36308097 2022
32
Refractive outcomes following bilateral implantation of a diffractive toric intraocular lens in a multisurgeon hospital setting. 62
36436668 2022
33
Corneal Topography and Tomography Readings with Mask-Wear During the COVID-19 Pandemic. 62
36399667 2022
34
Evaluation of cautery in manual small-incision cataract surgery. 62
36308120 2022
35
The prevalence of refractive error in schoolchildren. 62
34982953 2022
36
Comparative study between conventional and 4 mm manual small-incision cataract surgery. 62
36308119 2022
37
Validation of the DYOP visual acuity test. 62
36400682 2022
38
One-year long-term clinical outcomes following diffractive trifocal toric intraocular lens implantation: retrospective observational case series study. 62
36467347 2022
39
Long-term efficacy and safety profiles following small incision lenticule extraction in eyes with ≥ 5-year follow-up. 62
35102752 2022
40
Fourier Analysis on Irregular Corneal Astigmatism Using Optical Coherence Tomography in Various Severity Stages of Keratoconus. 62
35850250 2022
41
One-dioptre toric IOL versus spherical IOL in eyes with low preoperative corneal astigmatism. 62
36418805 2022
42
Study of changes in pre-existing against-the-rule astigmatism after temporal manual small-incision cataract surgery using frown, straight, and smile incisions. 62
36308117 2022
43
Re-inventing the straight incision with a single central suture in manual small-incision cataract surgery to minimize surgically induced astigmatism. 62
36308118 2022
44
Comparison of surgically induced astigmatism in chevron, straight, and frown incisions in manual small-incision cataract surgery. 62
36308115 2022
45
Commentary: Modulation of the incision size for the correction of astigmatism in manual small-incision cataract surgery. 62
36308114 2022
46
Commentary: Surgically induced astigmatism in manual small-incision cataract surgery incision types: Is the correlation linear? 62
36308116 2022
47
Factors affecting surgically induced astigmatism in manual small-incision cataract surgery. 62
36308096 2022
48
Correction of pre-existing astigmatism by on-axis incision size modulation in manual small-incision cataract surgery. 62
36308113 2022
49
One step beyond tomorrow; Ranjan manual small-incision cataract surgery (MSICS) marker - Welcome to the topical, flapless and astigmatism-free MSICS era. 62
36308169 2022
50
Customized incision cataract surgery: Astigmatism modulation techniques in manual small-incision cataract surgery. 62
36308151 2022

Variations for Astigmatism

ClinVar genetic disease variations for Astigmatism:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 7 genes GRCh37/hg19 7p22.1(chr7:5096876-5569338)x1 CN LOSS Pathogenic
1330190 GRCh37: 7:5096876-5569338
GRCh38:
2 overlap with 29 genes GRCh37/hg19 22q11.21(chr22:18894835-20311763) CN LOSS Pathogenic
523273 GRCh37: 22:18894835-20311763
GRCh38:
3 ANKRD11 NM_013275.6(ANKRD11):c.5317G>T (p.Glu1773Ter) SNV Pathogenic
242882 rs1114167291 GRCh37: 16:89347633-89347633
GRCh38: 16:89281225-89281225
4 GRIN2B NM_000834.5(GRIN2B):c.2002G>A (p.Asp668Asn) SNV Pathogenic
373930 rs876661151 GRCh37: 12:13761545-13761545
GRCh38: 12:13608611-13608611
5 PHF3, EYS NM_001142800.2(EYS):c.8519A>G (p.Glu2840Gly) SNV Uncertain Significance
523415 rs1554163965 GRCh37: 6:64431408-64431408
GRCh38: 6:63721512-63721512
6 SLC9A6 NM_001379110.1(SLC9A6):c.1190C>A (p.Ala397Glu) SNV Uncertain Significance
523398 rs1556619324 GRCh37: X:135098913-135098913
GRCh38: X:136016754-136016754
7 overlap with 8 genes GRCh37/hg19 6p24.1-23(chr6:12536624-13968949) CN GAIN Uncertain Significance
523282 GRCh37: 6:12536624-13968949
GRCh38:
8 ZBTB10 NM_001105539.3(ZBTB10):c.466C>T (p.Arg156Ter) SNV Uncertain Significance
1684521 GRCh37: 8:81399511-81399511
GRCh38: 8:80487276-80487276
9 overlap with 24 genes GRCh37/hg19 10q25.3-26.12(chr10:118891670-122349064)x1 CN LOSS Uncertain Significance
1330213 GRCh37: 10:118891670-122349064
GRCh38:

Expression for Astigmatism

Search GEO for disease gene expression data for Astigmatism.

Pathways for Astigmatism

Pathways related to Astigmatism according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.88 XYLT1 CHSY1

GO Terms for Astigmatism

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

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.23 VAX2 KRT12 GPR143 CACNA1F

Sources for Astigmatism

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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