MCID: AST006
MIFTS: 46

Astigmatism

Categories: Eye diseases, Neuronal diseases

Aliases & Classifications for Astigmatism

MalaCards integrated aliases for Astigmatism:

Name: Astigmatism 57 12 73 29 54 6 44 15 70 32

Classifications:



External Ids:

Disease Ontology 12 DOID:11782
OMIM® 57 603047
ICD9CM 34 367.2
MeSH 44 D001251
SNOMED-CT 67 155134009
ICD10 32 H52.2
MedGen 41 C0004106
UMLS 70 C0004106

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 05-Apr-2021)

MalaCards based summary : Astigmatism is related to irregular astigmatism and nystagmus 5, congenital, x-linked, and has symptoms including blurred vision and aniseikonia. An important gene associated with Astigmatism is ANKRD11 (Ankyrin Repeat Domain 11). The drugs Propoxycaine and Dipivefrin have been mentioned in the context of this disorder. Affiliated tissues include eye, endothelial and retina.

Disease Ontology : 12 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 : 73 Astigmatism is a type of refractive error in which the eye does not focus light evenly on the retina.... more...

Related Diseases for Astigmatism

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

(show top 50) (show all 199)
# Related Disease Score Top Affiliating Genes
1 irregular astigmatism 32.7 KRT3 KRT12
2 nystagmus 5, congenital, x-linked 31.9 GPR143 FRMD7
3 nystagmus 6, congenital, x-linked 31.9 GPR143 FRMD7
4 nystagmus 3, congenital, autosomal dominant 31.9 GPR143 FRMD7
5 nystagmus 7, congenital, autosomal dominant 31.9 GPR143 FRMD7
6 nystagmus 2, congenital, autosomal dominant 31.8 GPR143 FRMD7
7 nystagmus 4, congenital, autosomal dominant 31.8 GPR143 FRMD7
8 corneal dystrophy, meesmann, 1 31.4 KRT3 KRT12
9 pathologic nystagmus 31.0 GPR143 FRMD7 CACNA1F
10 corneal degeneration 30.7 KRT3 KRT12
11 recurrent corneal erosion 30.5 KRT3 KRT12
12 pseudopterygium 30.2 KRT3 KRT12
13 aniridia 1 30.2 KRT3 KRT12 FRMD7
14 refractive error 11.3
15 regular astigmatism 11.3
16 keratoconus 11.2
17 aland island eye disease 11.1
18 cataract 11.1
19 isolated ectopia lentis 11.1
20 myopia 11.1
21 amblyopia 11.0
22 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 11.0
23 lymphedema-distichiasis syndrome 11.0
24 ectopia lentis et pupillae 11.0
25 nystagmus 1, congenital, x-linked 11.0
26 rare hyperopia and astigmatism 10.9
27 ametropic amblyopia 10.9
28 keratoconus 8 10.9
29 keratoconus 1 10.8
30 retinitis pigmentosa 10.8
31 myhre syndrome 10.8
32 lacrimal duct defect 10.8
33 keratoconus posticus circumscriptus 10.8
34 macrocephaly/megalencephaly syndrome, autosomal recessive 10.8
35 pilodental dysplasia with refractive errors 10.8
36 keratoconus 5 10.8
37 corneal dystrophy, meesmann, 2 10.8
38 developmental delay with dysmorphic facies and dental anomalies 10.8
39 double pterygium 10.8
40 central pterygium 10.8
41 progressive peripheral pterygium 10.8
42 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 10.8
43 ichthyosis follicularis atrichia photophobia syndrome 10.8
44 ocular motor apraxia 10.7
45 suppression amblyopia 10.6
46 anisometropia 10.6
47 x-linked infantile nystagmus 10.5 GPR143 FRMD7
48 congenital nystagmus 1 10.5 GPR143 FRMD7
49 corneal dystrophy, lisch epithelial 10.5 KRT3 KRT12
50 corneal deposit 10.5 KRT3 KRT12

Graphical network of the top 20 diseases related to Astigmatism:



Diseases related to Astigmatism

Symptoms & Phenotypes for Astigmatism

Clinical features from OMIM®:

603047 (Updated 05-Apr-2021)

Symptoms:

12
  • blurred vision

UMLS symptoms related to Astigmatism:


aniseikonia

Drugs & Therapeutics for Astigmatism

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

(show top 50) (show all 70)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propoxycaine Approved Phase 4 86-43-1
2
Dipivefrin Approved Phase 4 52365-63-6 3105
3 Neurotransmitter Agents Phase 4
4 Adrenergic Agents Phase 4
5 Adrenergic Agonists Phase 4
6 Anesthetics Phase 4
7 Proxymetacaine Phase 4
8 Anesthetics, Local Phase 4
9
Moxifloxacin Approved, Investigational Phase 2, Phase 3 354812-41-2, 151096-09-2 152946
10
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
11 Mitomycins Phase 3
12 Vitamin B9 Phase 3
13 Nutrients Phase 3
14 Micronutrients Phase 3
15 Trace Elements Phase 3
16 Photosensitizing Agents Phase 3
17 Vitamin B Complex Phase 3
18 Vitamins Phase 3
19 Folate Phase 3
20 Dermatologic Agents Phase 3
21 Antibiotics, Antitubercular Phase 2, Phase 3
22 Anti-Bacterial Agents Phase 2, Phase 3
23 Norgestimate, ethinyl estradiol drug combination Phase 2, Phase 3
24 Vasodilator Agents Phase 3
25 Protective Agents Phase 3
26 Polymethyl Methacrylate Phase 3
27 Pharmaceutical Solutions Phase 1, Phase 2
28 Anticoagulants Phase 1, Phase 2
29 Plasma Substitutes Phase 1, Phase 2
30 Dextrans Phase 1, Phase 2
31 Blood Substitutes Phase 1, Phase 2
32
Epinephrine Approved, Vet_approved 51-43-4 5816
33
Racepinephrine Approved 329-65-7 838
34
Hyaluronic acid Approved, Vet_approved 9004-61-9 53477741
35
Phenylephrine Approved 59-42-7 6041
36
Tropicamide Approved, Investigational 1508-75-4 5593
37
Oxymetazoline Approved, Investigational 1491-59-4 4636
38
Coal tar Approved 8007-45-2
39
Ethanol Approved 64-17-5 702
40
Ranibizumab Approved 347396-82-1 459903
41
Ofloxacin Approved 82419-36-1 4583
42
Dexamethasone acetate Approved, Investigational, Vet_approved 1177-87-3
43
Dexamethasone Approved, Investigational, Vet_approved 50-02-2 5743
44
Levofloxacin Approved, Investigational 100986-85-4 149096
45
Tobramycin Approved, Investigational 32986-56-4 5496 36294
46
Hydrogen peroxide Approved, Vet_approved 7722-84-1 784
47
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved 83-88-5 493570
48
Imidacloprid Vet_approved 105827-78-9 86418
49 Epinephryl borate
50 Contact Lens Solutions

Interventional clinical trials:

(show top 50) (show all 296)
# Name Status NCT ID Phase Drugs
1 Effect of Posterior Corneal Toricity on Refractive Outcome of Pseudophakia Unknown status NCT01554761 Phase 4
2 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
3 PHASE IV STUDY # 1162. Prospective Investigation of SUPRACOR Visual Outcomes of Presbyopic Hyperopic Patients With and Without Astigmatism Unknown status NCT01628146 Phase 4
4 Clinical Evaluation of Toric Intraocular Lens Made by Aurolab Unknown status NCT01396616 Phase 4
5 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
6 Comparison of Toric IOL Implantation and Opposite Clear Corneal Incision During Cataract Surgery to Correct Corneal Astigmatism Completed NCT01763151 Phase 4
7 Incisional Correction of Corneal Astigmatism During Phacoemulsification Completed NCT04418986 Phase 4
8 Use of Toric Intraocular Lens to Neutralize Keratometric Astigmatism Completed NCT00925886 Phase 4
9 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
10 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
11 Intrastromal Corneal Ring Segment Implantation for High Astigmatism on Postkeratoplasty Eyes Completed NCT01018797 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 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
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 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
16 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
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 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
20 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
21 A Prospective Randomized Comparison of the AMO CustomVue to the Alcon Wavelight in Patients Undergoing LASIK Active, not recruiting NCT02565537 Phase 4
22 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
23 A Study Evaluating the Safety and Efficacy of the KXL System With vibeX Rapid (Riboflavin Ophthalmic Solution) for Corneal Collagen Cross-Linking in Eyes Having Keratoconus and Post LASIK Ectasia Unknown status NCT02638376 Phase 3
24 Clinical Evaluation of the Toric BuunyLens TR Intra-ocular Lens Unknown status NCT01659801 Phase 3
25 Intrastromal Correction of Ametropia by a Femtosecond Laser Unknown status NCT00928122 Phase 3
26 Comparison of Cross-cylinder and Conventional PRK for Laser Correction of Astigmatism: A Randomized Clinical Trial. Completed NCT00663923 Phase 3
27 Endothelial Cell Loss Following Toric ICL Implantation for Correction of Myopia and Astigmatism After Penetrating Keratoplasty Completed NCT04457063 Phase 2, Phase 3
28 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
29 The Berkeley Orthokeratology Study Completed NCT00000123 Phase 3
30 A Prospective Study of Femtosecond Laser Intracorneal Lensectomi in Treatment of Moderate to High Myopia Completed NCT01673503 Phase 3
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 Phase 1 Study of Ocular Aberrations and Visual Performance of Eyes Implanted With Three Multifocal Intra-ocular Lenses Completed NCT00876707 Phase 1, Phase 2
33 Comparative Evaluation of Corneal Staining With Balafilcon A Lenses and Two Multi-Purpose Solutions Completed NCT01024855 Phase 1, Phase 2
34 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
35 Enhancement of Emmetropization in Hyperopic Infants Terminated NCT00574717 Phase 1, Phase 2
36 Randomized, Prospective Comparison of the Outcome of TICL and Q Value Customized LASIK for the Correction of Myopia With Astigmatism Unknown status NCT01088568
37 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
38 An Investigator-Initiated Trials on the Efficacy and Stability of AT TORBI 709M 4-haptic Toric IOL in Cataract Surgery Unknown status NCT02618018
39 Astigmatic Corneal Changes Secondary to Eyelid Surgery Unknown status NCT01968174
40 International Multicenter Study on Small Incision Lenticule Extraction(SMILE) Surgery Unknown status NCT02844556
41 Manually Performed Limbal Relaxing Incisions vs Femtosecond Laser-guided Astigmatic Keratotomy for Correction of Corneal Astigmatism After Phacoemulsification Unknown status NCT03264534
42 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
43 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
44 Comparison Between Femtosecond Assisted LASIK and Small Incision Lenticule Extraction (SMILE) for Correction of Myopia and Myopic Astigmatism Unknown status NCT02962544
45 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
46 The Role of Anterior Segment Optical Coherence Tomography in Evaluation of the Keratoconic Cornea After Corneal Collagen Cross Linking. Unknown status NCT03879421
47 Prescription of Full Optical Correction in Refractive Errors to Treat Esotropia in Children up to 3 Years Old Unknown status NCT02404324
48 Prospective Evaluation of Limbal Relaxing Incision (LRI) in Conjunction With Phacoemulsification Surgery for Astigmatic Correction in Chinese Eyes Unknown status NCT01122992
49 Einfluss Der Trabekulektomie Und Der Kombinierten Phako-Trabekulektomie Auf Den Kornealen Astigmatismus Unknown status NCT02945202
50 Rotational Stability After Nanoflex Collamer Toric Intraocular Lens Implantation in Astigmatic Patients Undergoing Cataract Surgery Unknown status NCT02412215

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 29

Anatomical Context for Astigmatism

MalaCards organs/tissues related to Astigmatism:

40
Eye, Endothelial, Retina, Brain, Skin, Thyroid, Cortex

Publications for Astigmatism

Articles related to Astigmatism:

(show top 50) (show all 10513)
# Title Authors PMID Year
1
Inheritance of astigmatism: evidence for a major autosomal dominant locus. 61 57
9718344 1998
2
Astigmatism in 72 twin pairs. 57 61
2805714 1989
3
Genetic analysis of indices of corneal power and corneal astigmatism in human populations with varying incidences of strabismus. 57 61
1184316 1975
4
Ocular phenotype correlations in patients with TWIST versus FGFR3 genetic mutations. 61 54
17070479 2006
5
[Comparison of PKR and LASIK for the treatment of low myopia: statistic study of refractive and optic results]. 54 61
11965115 2002
6
[Accuracy and predictability of photorefractive keratectomy for astigmatism correction]. 61 54
11877233 1998
7
[Surgery in myopic astigmatism: arciform keratotomy and PKR versus PARK]. 61 54
9554138 1997
8
Partial corneal recovery following selective trabeculoplasty-induced keratopathy: Longitudinal analysis through scheimpflug imaging. 61
33718663 2021
9
Descemet Membrane Endothelial Keratoplasty and light adjustable lens triple procedure. 61
33718662 2021
10
Influence of refractive status and age on corneal higher-order aberration. 61
33517073 2021
11
Comparison of penetrating femtosecond laser-assisted astigmatic keratotomy and toric intraocular lens implantation for correction of astigmatism in cataract surgery. 61
33795782 2021
12
Merits of conjunctival frill incision in reducing trabeculectomy-induced astigmatism and patient discomfort. 61
33727452 2021
13
Increased Incidence of Ophthalmologic Findings in Children With Concurrent Isolated Nonsyndromic Metopic Suture Abnormalities and Deformational Cranial Vault Asymmetry. 61
32929979 2021
14
Vision Needs of Children Who Failed School-based Vision Screening with and without Eyeglasses. 61
32752905 2021
15
Characterising the orientation-specific pattern-onset visual evoked potentials in children with bilateral refractive amblyopia and non-amblyopic controls. 61
32968834 2021
16
CLEAR - Orthokeratology. 61
33775379 2021
17
[Excimer laser in keratoconus management]. 61
33573798 2021
18
Molecular-scale axial localization by repetitive optical selective exposure. 61
33795876 2021
19
CLEAR - Medical use of contact lenses. 61
33775381 2021
20
Scleral contact lenses: Visual outcomes and tolerance. A prospective study about 98 eyes. 61
33549353 2021
21
Accuracy of theoretical IOL formulas for Panoptix intraocular lens according to axial length. 61
33795724 2021
22
A toric rigid bifocal contact lens for a presbyopic patient with corneal astigmatism and amblyopia. 61
33689659 2021
23
A Randomized Study of the Impact of a Corneal Pre-Cut During Cataract Surgery on Wound Architecture and Corneal Astigmatism. 61
33709325 2021
24
Effect of corneal incision features on anterior and posterior corneal astigmatism and higher-order aberrations after cataract surgery. 61
33665973 2021
25
Efficacy comparison between toric intraocular lens and aspheric intraocular lens plus steep-axis incision in cataract patients with low corneal astigmatism. 61
33691454 2021
26
Astigmatism correction with toric implantable collamer lens in low and high astigmatism groups. 61
33663238 2021
27
Femtosecond-LASIK outcomes using the VisuMax®-MEL® 80 platform for hyperopia and hyperopic astigmatism refractive surgery. 61
33603895 2021
28
LASIK versus PRK for high astigmatism. 61
33751303 2021
29
Progressive-toric IOL design reduces residual astigmatism with increasing pupil size: a ray-tracing simulation based on corneal topography data. 61
33796373 2021
30
Influence of posterior corneal astigmatism on the outcomes of toric intraocular lens implantation in eyes with oblique astigmatism. 61
33506320 2021
31
Fourier Analysis on Regular and Irregular Astigmatism of Anterior and Posterior Corneal Surfaces in Fuchs Endothelial Corneal Dystrophy. 61
33039376 2021
32
Effects of Superficial Keratectomy in Peripheral Hypertrophic Subepithelial Corneal Opacification on Front and Back Corneal Astigmatism. 61
32687418 2021
33
Association between greater residential greenness and decreased risk of preschool myopia and astigmatism. 61
33684414 2021
34
Comparison of corneal aberrations and refractive outcomes after small-incision lenticule extraction and femtosecond-assisted laser-assisted in situ keratomileusis. 61
33783676 2021
35
Efficacy of progressive thickness intrastromal corneal ring segments in the treatment of duck phenotype keratoconus. 61
33726533 2021
36
Is soft toric contact lenses fitting a feasible option to improve optical quality and visual performance in corneal ectasia? 61
33714679 2021
37
[Prevalence of visual impairment in school-age children: Data analysis from PlanVue® pilot project]. 61
33494974 2021
38
Long-term ophthalmic outcomes in 120 children with unilateral coronal synostosis: a 20-year retrospective analysis. 61
33716150 2021
39
Associations between visual function and magnitude of refractive error for emmetropic to moderately hyperopic 4- and 5-year-old children in the Vision in Preschoolers - Hyperopia in Preschoolers Study. 61
33772848 2021
40
The Sociodemographic and Risk Factors for Keratoconus: Nationwide Matched Case-Control Study in Taiwan, 1998-2015. 61
33007273 2021
41
Prevalence of refractive errors and visual impairment in school children in Enugu South-East Nigeria. 61
33723112 2021
42
Retinal astigmatism induced by a chorioretinal coloboma? 61
32452047 2021
43
Benefits of autologous platelet tissue graft in wound healing after corneal refractive surgery: a case report. 61
33722277 2021
44
Evaluation of a Portable Wavefront Aberrometer for Community Screening Refraction in the Elderly. 61
33633020 2021
45
Modified forms of Tscherning ellipses. 61
33609050 2021
46
Modified balanced two-string technique of internal scleral fixation of posteriorly dislocated intraocular lens. 61
33595521 2021
47
Intravenous Immunoglobulin Treatment in Kawasaki Disease Decreases the Incidence of Myopia. 61
33808075 2021
48
Outcomes and complications of implantable collamer lens for mild to advance keratoconus. 61
33772698 2021
49
PRK Enhancement for Residual Refractive Error After Primary PRK: A Retrospective Study. 61
33515419 2021
50
Baseline vision results from the Baltimore Reading and Eye Disease Study. 61
33745870 2021

Variations for Astigmatism

ClinVar genetic disease variations for Astigmatism:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GRIN2B NM_000834.4(GRIN2B):c.2002G>A (p.Asp668Asn) SNV Pathogenic 373930 rs876661151 GRCh37: 12:13761545-13761545
GRCh38: 12:13608611-13608611
2 ANKRD11 NM_013275.6(ANKRD11):c.5317G>T (p.Glu1773Ter) SNV Pathogenic 242882 rs1114167291 GRCh37: 16:89347633-89347633
GRCh38: 16:89281225-89281225
3 overlap with 29 genes GRCh37/hg19 22q11.21(chr22:18894835-20311763) copy number loss Pathogenic 523273 GRCh37: 22:18894835-20311763
GRCh38:
4 SLC9A6 NM_001042537.1(SLC9A6):c.1346C>A (p.Ala449Glu) SNV Uncertain significance 523398 rs1556619324 GRCh37: X:135098913-135098913
GRCh38: X:136016754-136016754
5 overlap with 8 genes GRCh37/hg19 6p24.1-23(chr6:12536624-13968949) copy number gain Uncertain significance 523282 GRCh37: 6:12536624-13968949
GRCh38:
6 PHF3 , EYS NM_001142800.2(EYS):c.8519A>G (p.Glu2840Gly) SNV Uncertain significance 523415 rs1554163965 GRCh37: 6:64431408-64431408
GRCh38: 6:63721512-63721512

Expression for Astigmatism

Search GEO for disease gene expression data for Astigmatism.

Pathways for Astigmatism

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 8.92 VAX2 KRT12 GPR143 CACNA1F

Sources for Astigmatism

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....