Aliases & Classifications for Astigmatism

MalaCards integrated aliases for Astigmatism:

Name: Astigmatism 57 12 76 29 55 6 44 15 73

Classifications:



External Ids:

OMIM 57 603047
Disease Ontology 12 DOID:11782
ICD10 33 H52.2 H52.20
ICD9CM 35 367.2 367.20
MeSH 44 D001251
MedGen 42 C0004106
UMLS 73 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)

MalaCards based summary : Astigmatism is related to regular astigmatism and corneal dystrophy, meesmann, and has symptoms including blurred vision and aniseikonia. An important gene associated with Astigmatism is ANKRD11 (Ankyrin Repeat Domain 11), and among its related pathways/superpathways is Signaling by BMP. The drugs Dipivefrin and Hyaluronic acid have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and endothelial, and related phenotypes are skeleton and vision/eye

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 : 76 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 99)
# Related Disease Score Top Affiliating Genes
1 regular astigmatism 31.9 CER1 DPT NBL1
2 corneal dystrophy, meesmann 31.8 KRT12 KRT3
3 congenital nystagmus 30.2 FRMD7 GPR143
4 strabismus 29.9 FRMD7 GPR143 NRXN1
5 anisometropia 29.9 ADAMTSL4 DPT GREM1
6 irregular astigmatism 12.2
7 refractive error 11.4
8 keratoconus 11.3
9 isolated ectopia lentis 11.2
10 amblyopia 11.1
11 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 10.9
12 lymphedema-distichiasis syndrome 10.9
13 ectopia lentis et pupillae 10.9
14 aland island eye disease 10.9
15 nystagmus 6, congenital, x-linked 10.9
16 nystagmus 1, congenital, x-linked 10.9
17 keratoconus 1 10.8
18 lacrimal duct defect 10.8
19 nystagmus 2, congenital, autosomal dominant 10.8
20 nystagmus 4, congenital, autosomal dominant 10.8
21 keratoconus posticus circumscriptus 10.8
22 macrocephaly/megalencephaly syndrome, autosomal recessive 10.8
23 retinitis pigmentosa 10.8
24 nystagmus 5, congenital, x-linked 10.8
25 nystagmus 3, congenital, autosomal dominant 10.8
26 keratoconus 5 10.8
27 keratoconus 8 10.8
28 nystagmus 7, congenital, autosomal dominant 10.8
29 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 10.8
30 ichthyosis follicularis atrichia photophobia syndrome 10.8
31 isolated congenital megalocornea 10.8
32 cataract 10.7
33 myopia 10.6
34 corneal granular dystrophy 10.6 KRT12 KRT3
35 epithelial and subepithelial dystrophy 10.6 KRT12 KRT3
36 x-linked infantile nystagmus 10.6 FRMD7 GPR143
37 limbal stem cell deficiency 10.5 KRT12 KRT3
38 pathologic nystagmus 10.5 FRMD7 GPR143
39 corneal dystrophy, thiel-behnke type 10.3 KRT12 KRT3
40 aging 10.3
41 presbyopia 10.1
42 endotheliitis 10.1
43 epiblepharon 10.0
44 corneal ectasia 9.9
45 retinitis 9.9
46 pellucid marginal degeneration 9.9
47 ocular motility disease 9.9 FRMD7 GPR143
48 exudative vitreoretinopathy 1 9.9
49 hemangioma 9.9
50 corneal degeneration 9.9

Graphical network of the top 20 diseases related to Astigmatism:



Diseases related to Astigmatism

Symptoms & Phenotypes for Astigmatism

Clinical features from OMIM:

603047

Symptoms:

12
  • blurred vision

UMLS symptoms related to Astigmatism:


aniseikonia

MGI Mouse Phenotypes related to Astigmatism:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 skeleton MP:0005390 9.56 ANKRD11 CER1 FRMD7 GREM1 GREM2 NBL1
2 vision/eye MP:0005391 9.23 ADAMTSL4 ANKRD11 CACNA1F DPT GPR143 GREM2

Drugs & Therapeutics for Astigmatism

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

(show top 50) (show all 126)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dipivefrin Approved Phase 4,Phase 3,Not Applicable 52365-63-6 3105
2
Hyaluronic acid Approved, Vet_approved Phase 4,Not Applicable 9004-61-9 53477741
3
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Not Applicable 50-02-2 5743
4
Ephedrine Approved Phase 4 299-42-3 9294
5
Miconazole Approved, Investigational, Vet_approved Phase 4,Not Applicable 22916-47-8 4189
6
Pseudoephedrine Approved Phase 4 90-82-4 7028
7
Bevacizumab Approved, Investigational Phase 4 216974-75-3
8
Fluorouracil Approved Phase 4 51-21-8 3385
9 Anesthetics Phase 4,Phase 2,Phase 3,Not Applicable
10 Proxymetacaine Phase 4,Phase 3,Not Applicable
11 Pharmaceutical Solutions Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
12 Dermatologic Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
13 Ophthalmic Solutions Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
14 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Not Applicable
15 Adrenergic Agents Phase 4,Not Applicable
16 Adrenergic Agonists Phase 4,Not Applicable
17 Neurotransmitter Agents Phase 4,Phase 2,Not Applicable
18 Antiemetics Phase 4,Not Applicable
19 Antifungal Agents Phase 4,Not Applicable
20 Anti-Infective Agents Phase 4,Phase 2,Not Applicable
21 Anti-Inflammatory Agents Phase 4,Not Applicable
22 Antineoplastic Agents, Hormonal Phase 4,Not Applicable
23 Antirheumatic Agents Phase 4
24 Autonomic Agents Phase 4,Phase 2,Not Applicable
25 BB 1101 Phase 4,Not Applicable
26 Calcineurin Inhibitors Phase 4
27 Cyclosporins Phase 4
28 Dexamethasone acetate Phase 4,Not Applicable 1177-87-3
29 Gastrointestinal Agents Phase 4,Not Applicable
30 glucocorticoids Phase 4,Not Applicable
31 HIV Protease Inhibitors Phase 4,Not Applicable
32 Hormone Antagonists Phase 4,Not Applicable
33 Hormones Phase 4,Phase 2,Not Applicable
34 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Not Applicable
35 Immunosuppressive Agents Phase 4
36 Nasal Decongestants Phase 4
37
protease inhibitors Phase 4,Not Applicable
38 Respiratory System Agents Phase 4,Not Applicable
39 Tetrahydrozoline Phase 4,Not Applicable
40 Vasoconstrictor Agents Phase 4
41 Angiogenesis Inhibitors Phase 4,Phase 2
42 Angiogenesis Modulating Agents Phase 4,Phase 2
43 Antimetabolites Phase 4
44 Antimetabolites, Antineoplastic Phase 4
45
Flavin Mononucleotide Approved, Investigational Phase 2, Phase 3 146-17-8 643976
46
Lidocaine Approved, Vet_approved Phase 2, Phase 3 137-58-6 3676
47
Menthol Approved Phase 3,Not Applicable 2216-51-5 16666
48
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
49
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable 59-30-3 6037
50
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable 83-88-5 493570

Interventional clinical trials:

(show top 50) (show all 321)
# Name Status NCT ID Phase Drugs
1 Effect of Posterior Corneal Toricity on Refractive Outcome of Pseudophakia Unknown status NCT01554761 Phase 4
2 Prospective Investigation of SUPRACOR Visual Outcomes of Presbyopic Hyperopic Patients With and Without Astigmatism Unknown status NCT01628146 Phase 4
3 Clinical Evaluation of Toric Intraocular Lens Made by Aurolab Unknown status NCT01396616 Phase 4
4 A Intra-patient Comparison of Closed Loop and Plate Haptic Toric Intraocular Lenses Unknown status NCT02264457 Phase 4
5 Multi Laser Platform Comparison Study for LASIK 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 Use of Toric Intraocular Lens to Neutralize Keratometric Astigmatism Completed NCT00925886 Phase 4
8 Intrastromal Corneal Ring for High Astigmatism on Postkeratoplasty Completed NCT01018797 Phase 4
9 Clinical Performance of Biofinity Toric Versus Air Optix for Astigmatism Completed NCT01965288 Phase 4
10 Prospective Evaluation of the Effectiveness of the Femtosecond Laser-assisted Refractive Astigmatic Keratotomy. Completed NCT01885780 Phase 4
11 Safety and Effectiveness of the Akreos Toric Intraocular Lens. Completed NCT00825513 Phase 4
12 Clinical Performance of Habitual Hydrogel vs. Silicone Hydrogel Toric Contact Lenses Completed NCT02142361 Phase 4
13 Contralateral Comparison of Three Excimer Laser Systems in Performing LASIK Completed NCT00821236 Phase 4
14 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
15 Low Cylinder Toric Completed NCT00732030 Phase 4
16 An Evaluation of Outcomes Following Wavefront Optimized or Wavefront Guided Lasik Procedure in Low to Moderate Myopic Patients Completed NCT01173198 Phase 4
17 Visual Outcomes After Implantation of a New Multifocal Intraocular Lens Completed NCT01505816 Phase 4
18 Daily Wear Corneal Infiltrative Event Study Completed NCT00937105 Phase 4
19 Topical Cyclosporine for Vernal Keratoconjunctivitis (VKC) in Rwanda Completed NCT01211327 Phase 4 Cyclosporine A;Dexamethasone
20 Co-Axial Micro-Incision Versus Co-Axial Small Incision Cataract Surgery Using the Stellaris Enhancement System Completed NCT01261975 Phase 4
21 A Prospective, Contralateral, Eye to Eye Comparison of SMILE Surgery to LASIK Surgery Recruiting NCT03067077 Phase 4
22 High Resolution Wavefront-guided vs. Wavefront Optimized LASIK Active, not recruiting NCT02565537 Phase 4
23 LASIK Using the Alcon Allegretto Wavefront-Guided Excimer Laser vs AMO Visx Wavefront-Guided Excimer Laser Active, not recruiting NCT01454843 Phase 4
24 Wavefront-guided PRK vs Wavefront-optimized PRK Active, not recruiting NCT02091934 Phase 4
25 Wavefront-guided Photorefractive Keratectomy (PRK) Versus Wavefront-guided Lasik for Myopia Active, not recruiting NCT01140594 Phase 4
26 Strategies for Management of Recurrent Pterygium Active, not recruiting NCT02530801 Phase 4 Bevacizumab;5 fluorouracil
27 Topography-guided LASIK Surgery Not yet recruiting NCT03292419 Phase 4
28 Recommendations for Monitoring Clinical Experience Following Implantation of the AcrySof® Toric Withdrawn NCT00761488 Phase 4
29 SUPRACOR for Myopia and Myopic Astigmatism Unknown status NCT01404884 Phase 3
30 Evaluation of the BunnyLens TR Intraocular Lens Unknown status NCT01659801 Phase 3
31 Intrastromal Correction of Ametropia by a Femtosecond Laser Unknown status NCT00928122 Phase 3
32 Comparison of Penetrating Keratoplasty and Deep Lamellar Keratoplasty With the Big Bubble Technique for Keratoconus Unknown status NCT00371202 Phase 3
33 Treatment of Keratoconus Using Collagen Cross-Linking Unknown status NCT00841386 Phase 2, Phase 3 Riboflavin-5-phosphate;Sham cross-linking
34 Evaluating the Safety and Efficacy of the KXL System for Corneal Collagen Cross-Linking in Eyes Having Keratoconus Unknown status NCT02638376 Phase 3
35 Comparison of Cross-cylinder and Conventional Photorefractive Keratectomy(PRK) in Correcting Medium-high Astigmatism Completed NCT00663923 Phase 3
36 The Berkeley Orthokeratology Study Completed NCT00000123 Phase 3
37 Multicenter Evaluation of Safety and Effectiveness of Presbyopic LASIK for Hyperopes Completed NCT00910403 Phase 3
38 A Prospective Study of Femtosecond Laser Intracorneal Lensectomi Completed NCT01673503 Phase 3
39 Correction of Myopia Evaluation Trial 2 Completed NCT00320593 Phase 3
40 Effects of Prismatic Spectacle Lenses on Symptoms of Dizziness, Headache and Anxiety as Caused by Vertical Heterophoria Completed NCT00785135 Phase 3
41 Economic Evaluation of Femtosecond Laser Assisted Cataract Surgery Completed NCT01982006 Phase 3
42 Collagen Crosslinking for Keratoconus - a Randomized Controlled Clinical Trial Recruiting NCT01604135 Phase 3
43 Safety and Effectiveness of Corneal Crosslinking (CXL): Keratoconus and Post-Refractive Ectasia Active, not recruiting NCT03080077 Phase 3 Ricrolin+;Epi-Off
44 Corneal Cross Linking and Topography Guided Excimer Laser Treatment Terminated NCT01682993 Phase 3
45 Myoring Versus Keraring Implantation for Keratoconus Unknown status NCT01869517 Phase 2
46 Safety and Effectiveness of Arcuate Incisions Performed With the iFS Femtosecond Laser System Completed NCT01348854 Phase 2
47 Wavefront Analyzes and Visual Performance of Three Multifocal Intra-ocular Lenses Completed NCT00876707 Phase 1, Phase 2
48 Is Non-cycloplegic Photorefraction Applicable for Screening Refractive Risk Factors of Amblyopia? Completed NCT01308307 Phase 2
49 Comparative Evaluation of Corneal Staining With Balafilcon A Lenses and Two Multi-Purpose Solutions Completed NCT01024855 Phase 1, Phase 2
50 Eye Muscle Surgery to Treat Congenital Nystagmus Completed NCT00001866 Phase 2

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:

41
Eye, Retina, Endothelial, Testes

Publications for Astigmatism

Articles related to Astigmatism:

(show top 50) (show all 954)
# Title Authors Year
1
Defocus and magnification dependent variation of TEM image astigmatism. ( 29321616 )
2018
2
Importance of Posterior Corneal Astigmatism in Eyes with Keratoconus. ( 29403581 )
2018
3
Agreement Between Internal Astigmatism and Posterior Corneal Astigmatism in Pseudophakic Eyes. ( 29889290 )
2018
4
Comparison of Anterior, Posterior, and Total Corneal Astigmatism Measured Using a Single Scheimpflug Camera in Healthy and Keratoconus Eyes. ( 29770640 )
2018
5
The effectiveness of sphero-cylindrical correction at a short distance in presbyopic age patients with the first detected astigmatism. ( 29783210 )
2018
6
Role of Hemidivisional Corneal Topographic Astigmatisms (CorTs) in the Regularization and Reduction of Irregular Astigmatism. ( 29135603 )
2018
7
A genome-wide association study of corneal astigmatism: The CREAM Consortium. ( 29422769 )
2018
8
A preliminary study of astigmatism and early childhood development. ( 29929004 )
2018
9
Astigmatism induced by intraocular lens tilt evaluated via ray tracing. ( 29861054 )
2018
10
Prevalence of corneal astigmatism before cataract surgery in Western Indian Population. ( 29386726 )
2018
11
Circular Keratotomy Combined With Wedge Resection in the Management of High Astigmatism After Penetrating Keratoplasty. ( 29944506 )
2018
12
Cross-Sectional and Longitudinal Investigation of the Power Vector in Astigmatism: The Yamagata Study (Funagata). ( 29095754 )
2018
13
Corneal Curvature, Astigmatism, and Aberrations in Marfan Syndrome with Lens Subluxation: Evaluation by Pentacam HR System. ( 29511238 )
2018
14
Internal Astigmatism and Its Role in the Growth of Axial Length in School-Age Children. ( 29850198 )
2018
15
Age-related changes in with-the-rule and oblique corneal astigmatism. ( 29369508 )
2018
16
Unusual Internal Astigmatism Due to Severe Capsule Contraction Syndrome. ( 29315444 )
2018
17
Evaluation of the effectiveness of combined femtosecond laser-assisted cataract surgery and femtosecond laser astigmatic keratotomy in improving post-operative visual outcomes. ( 29970039 )
2018
18
Vector analysis of high (a8Y3 diopters) astigmatism correction using small-incision lenticule extraction and laser inA situ keratomileusis. ( 29909252 )
2018
19
Visual Outcomes and Aberrometric Changes With Topography-Guided Photorefractive Keratectomy Treatment of Irregular Astigmatism After Penetrating Keratoplasty. ( 29215394 )
2018
20
Prediction of surgically induced astigmatism in manual and femtosecond laser-assisted clear corneal incisions. ( 29973075 )
2018
21
Outcomes of LASIK for Myopia or Myopic Astigmatism Correction with the FS200 Femtosecond Laser and EX500 Excimer Laser Platform. ( 29872485 )
2018
22
Age Differences in Axial Length, Corneal Curvature, and Corneal Astigmatism in Marfan Syndrome with Ectopia Lentis. ( 29854424 )
2018
23
Changes in shape and astigmatism of total, anterior, and posterior cornea after long versus short clear corneal incision cataract surgery. ( 29395715 )
2018
24
Comparability and repeatability of different methods of corneal astigmatism assessment. ( 29339918 )
2018
25
Comparison of the Effect of Cycloplegia on Astigmatism Measurements in a Pediatric Amblyopic Population: A Prospective Study. ( 29913022 )
2018
26
Effect of the posterior corneal surface on total corneal astigmatism in patients with age-related cataract. ( 29977807 )
2018
27
Factors Associated With Residual Astigmatism After Toric Intraocular Lens Implantation Reported in an Online Toric Intraocular Lens Back-calculator. ( 29889288 )
2018
28
Characteristics of Posterior Corneal Astigmatism in Different Stages of Keratoconus. ( 29403582 )
2018
29
Corneal Irregular Astigmatism and Curvature Changes After Small Incision Lenticule Extraction: Three-Year Follow-Up. ( 29757850 )
2018
30
Development of a real-time wave field reconstruction TEM system (II): correction of coma aberration and 3-fold astigmatism, and real-time correction of 2-fold astigmatism. ( 29315401 )
2018
31
Transitional conic toric intraocular lens for the management of corneal astigmatism in cataract surgery. ( 29922036 )
2018
32
Non-Orthogonal Corneal Astigmatism among Normal and Keratoconic Brazilian and Chinese populations. ( 29393696 )
2018
33
Assessment of Corneal Keratometric and Astigmatism Measurements Using Verion System and Other Instruments in Cataract Patient. ( 29890084 )
2018
34
Comparison between Wavefront-optimized and corneal Wavefront-guided Transepithelial photorefractive keratectomy in moderate to high astigmatism. ( 29940974 )
2018
35
Surgically induced astigmatism after phacoemulsification by temporal clear corneal and superior clear corneal approach: a comparison. ( 29379266 )
2018
36
Treatment of high myopia/myopic astigmatism with a combination of WaveLight Contoura with LYRA protocol and wavefront-optimized treatment. ( 29785083 )
2018
37
Femtosecond-LASIK outcomes using the VisuMaxAr-MELAr 80 platform for mixed astigmatism refractive surgery. ( 29940638 )
2018
38
New pinhole sulcus implant for the correction of irregular corneal astigmatism. ( 29120715 )
2017
39
Comparison between toric and spherical phakic intraocular lenses combined with astigmatic keratotomy for high myopic astigmatism. ( 28828390 )
2017
40
Polar Value Analysis of Low to Moderate Astigmatism with Wavefront-Guided Sub-Bowman Keratomileusis. ( 28831306 )
2017
41
Scheimpflug topographical changes after Femtosecond LASIK for mixed astigmatism - theoretical aspects and case study. ( 29450375 )
2017
42
Corneal Astigmatism Measurement by Ray Tracing Versus Anterior Surface-Based Keratometry in Candidates for Toric Intraocular Lens Implantation. ( 28185842 )
2017
43
Laser-assisted in situ keratomileusis with optimized, fast-repetition, and cyclotorsion control excimer laser to treat hyperopic astigmatism with high cylinder. ( 29077186 )
2017
44
Correction of High Astigmatism after Penetrating Keratoplasty with Toric Multifocal Intraocular Lens Implantation. ( 28868034 )
2017
45
Refractive Outcomes of 20 Eyes Undergoing ICL Implantation for Correction of Hyperopic Astigmatism. ( 28880335 )
2017
46
Axis-free correction of astigmatism using bifocal soft contact lenses. ( 28935527 )
2017
47
Small Incision Lenticule Extraction for Correction of Myopia and Myopic Astigmatism: First 24-Hour Outcomes. ( 28680704 )
2017
48
[Prevalence and age-related changes of corneal astigmatism in patients before cataract surgery]. ( 27406230 )
2017
49
Repair of Irregularly Irregular Astigmatism by Transepithelial Phototherapeutic Keratectomy. ( 28991341 )
2017
50
Early visual outcomes and optical quality after femtosecond laser small-incision lenticule extraction for myopia and myopic astigmatism correction of over -10 dioptres. ( 29251814 )
2017

Variations for Astigmatism

ClinVar genetic disease variations for Astigmatism:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ANKRD11 NM_013275.5(ANKRD11): c.5317G> T (p.Glu1773Ter) single nucleotide variant Pathogenic rs1114167291 GRCh37 Chromosome 16, 89347633: 89347633
2 ANKRD11 NM_013275.5(ANKRD11): c.5317G> T (p.Glu1773Ter) single nucleotide variant Pathogenic rs1114167291 GRCh38 Chromosome 16, 89281225: 89281225
3 GRIN2B NM_000834.4(GRIN2B): c.2002G> A (p.Asp668Asn) single nucleotide variant Likely pathogenic rs876661151 GRCh38 Chromosome 12, 13608611: 13608611
4 GRIN2B NM_000834.4(GRIN2B): c.2002G> A (p.Asp668Asn) single nucleotide variant Likely pathogenic rs876661151 GRCh37 Chromosome 12, 13761545: 13761545
5 EYS NM_001142800.1(EYS): c.8519A> G (p.Glu2840Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 64431408: 64431408
6 EYS NM_001142800.1(EYS): c.8519A> G (p.Glu2840Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 63721512: 63721512
7 SLC9A6 NM_001042537.1(SLC9A6): c.1346C> A (p.Ala449Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 135098913: 135098913
8 SLC9A6 NM_001042537.1(SLC9A6): c.1346C> A (p.Ala449Glu) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 136016754: 136016754
9 subset of 29 genes:TBX1 GRCh37/hg19 22q11.21(chr22: 18894835-20311763) copy number loss Pathogenic GRCh37 Chromosome 22, 18894835: 20311763
10 GFOD1; MCUR1; NOL7; PHACTR1; RANBP9; RNF182; SIRT5; TBC1D7 GRCh37/hg19 6p24.1-23(chr6: 12536624-13968949) copy number gain Uncertain significance GRCh37 Chromosome 6, 12536624: 13968949

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
Show member pathways
10.66 CER1 GREM1 GREM2

GO Terms for Astigmatism

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.17 ADAMTSL4 CER1 DPT FRMD7 GREM1 GREM2

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

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.67 CACNA1F GPR143 KRT12 VAX2
2 face morphogenesis GO:0060325 9.43 ANKRD11 PDGFRA
3 signal transduction involved in regulation of gene expression GO:0023019 9.4 CER1 PDGFRA
4 sequestering of BMP in extracellular matrix GO:0035582 9.32 CER1 NBL1
5 negative regulation of monocyte chemotaxis GO:0090027 9.26 GREM1 NBL1
6 negative regulation of BMP signaling pathway GO:0030514 9.26 CER1 GREM1 GREM2 NBL1
7 sequestering of BMP from receptor via BMP binding GO:0038098 9.16 GREM2 NBL1
8 determination of dorsal identity GO:0048263 8.92 CER1 GREM1 GREM2 NBL1

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

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.55 CER1 GREM1 GREM2 NBL1 PDGFRA
2 morphogen activity GO:0016015 9.13 CER1 GREM1 NBL1
3 BMP binding GO:0036122 8.92 CER1 GREM1 GREM2 NBL1

Sources for Astigmatism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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