Aliases & Classifications for Astigmatism

MalaCards integrated aliases for Astigmatism:

Name: Astigmatism 58 12 77 30 56 6 45 15 74

Classifications:



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Disease Ontology 12 DOID:11782
OMIM 58 603047
ICD9CM 36 367.2 367.20
MeSH 45 D001251
SNOMED-CT 69 82649003
ICD10 34 H52.2 H52.20
MedGen 43 C0004106
UMLS 74 C0004106

Summaries for Astigmatism

OMIM : 58 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 anisometropia, and has symptoms including blurred vision and aniseikonia. An important gene associated with Astigmatism is ANKRD11 (Ankyrin Repeat Domain 11). The drugs Hyaluronic acid and Dipivefrin 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 : 77 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 126)
# Related Disease Score Top Affiliating Genes
1 regular astigmatism 32.9 CER1 DPT NBL1
2 anisometropia 30.6 ADAMTSL4 DPT
3 strabismus 30.3 FRMD7 GPR143 NRXN1
4 congenital nystagmus 30.0 FRMD7 GPR143
5 irregular astigmatism 12.4
6 refractive error 11.6
7 keratoconus 11.5
8 aland island eye disease 11.5
9 isolated ectopia lentis 11.4
10 amblyopia 11.4
11 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 11.1
12 lymphedema-distichiasis syndrome 11.1
13 ectopia lentis et pupillae 11.1
14 nystagmus 6, congenital, x-linked 11.1
15 nystagmus 1, congenital, x-linked 11.1
16 cataract 11.0
17 myopia 11.0
18 corneal dystrophy, meesmann 11.0
19 keratoconus 1 11.0
20 lacrimal duct defect 11.0
21 nystagmus 2, congenital, autosomal dominant 11.0
22 nystagmus 4, congenital, autosomal dominant 11.0
23 keratoconus posticus circumscriptus 11.0
24 macrocephaly/megalencephaly syndrome, autosomal recessive 11.0
25 pilodental dysplasia with refractive errors 11.0
26 retinitis pigmentosa 11.0
27 nystagmus 5, congenital, x-linked 11.0
28 nystagmus 3, congenital, autosomal dominant 11.0
29 keratoconus 5 11.0
30 keratoconus 8 11.0
31 nystagmus 7, congenital, autosomal dominant 11.0
32 ichthyosis follicularis atrichia photophobia syndrome 11.0
33 isolated congenital megalocornea 11.0
34 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.0
35 suppression amblyopia 10.5
36 ocular motor apraxia 10.4
37 presbyopia 10.3
38 mechanical strabismus 10.3
39 x-linked infantile nystagmus 10.2 FRMD7 GPR143
40 epiblepharon 10.2
41 exudative vitreoretinopathy 1 10.1
42 hemangioma 10.1
43 corneal ectasia 10.1
44 pathologic nystagmus 10.1
45 pellucid marginal degeneration 10.1
46 frasier syndrome 10.0
47 keratitis, hereditary 10.0
48 ptosis 10.0
49 corneal degeneration 10.0
50 corneal dystrophy 10.0

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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 skeleton MP:0005390 9.56 ACP2 ANKRD11 CER1 FRMD7 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 137)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hyaluronic acid Approved, Vet_approved Phase 4,Not Applicable 9004-61-9 53477741
2
Dipivefrin Approved Phase 4,Phase 3,Phase 2,Not Applicable 52365-63-6 3105
3
Fluorouracil Approved Phase 4 51-21-8 3385
4
Bevacizumab Approved, Investigational Phase 4 216974-75-3
5
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Not Applicable 50-02-2 5743
6
Miconazole Approved, Investigational, Vet_approved Phase 4,Not Applicable 22916-47-8 4189
7
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4,Not Applicable 1177-87-3
8 Proxymetacaine Phase 4,Phase 3,Not Applicable
9 Anesthetics Phase 4,Phase 2,Phase 3,Not Applicable
10 Pharmaceutical Solutions Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
11 Dermatologic Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
12 Ophthalmic Solutions Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
13 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Not Applicable
14 Neurotransmitter Agents Phase 4,Phase 2,Not Applicable
15 Adrenergic Agonists Phase 4,Not Applicable
16 Adrenergic Agents Phase 4,Not Applicable
17 Antimetabolites Phase 4
18 Immunologic Factors Phase 4,Not Applicable
19 Antimetabolites, Antineoplastic Phase 4
20 Immunosuppressive Agents Phase 4
21 Angiogenesis Inhibitors Phase 4,Phase 2
22 Angiogenesis Modulating Agents Phase 4,Phase 2
23 Antineoplastic Agents, Immunological Phase 4
24 Antineoplastic Agents, Hormonal Phase 4,Not Applicable
25 HIV Protease Inhibitors Phase 4,Not Applicable
26
protease inhibitors Phase 4,Not Applicable
27 BB 1101 Phase 4,Not Applicable
28 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Not Applicable
29 Anti-Infective Agents Phase 4,Phase 2,Not Applicable
30 Antifungal Agents Phase 4,Not Applicable
31 Hormone Antagonists Phase 4,Not Applicable
32 Hormones Phase 4,Phase 2,Not Applicable
33 Antiemetics Phase 4,Not Applicable
34 Gastrointestinal Agents Phase 4,Not Applicable
35 glucocorticoids Phase 4,Not Applicable
36 Calcineurin Inhibitors Phase 4
37 Autonomic Agents Phase 4,Phase 2,Not Applicable
38 Antirheumatic Agents Phase 4
39 Anti-Inflammatory Agents Phase 4,Not Applicable
40 Cyclosporins Phase 4
41
Flavin Mononucleotide Approved, Investigational Phase 2, Phase 3 146-17-8 643976
42
Lidocaine Approved, Vet_approved Phase 2, Phase 3 137-58-6 3676
43
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
44
tannic acid Approved Phase 3 1401-55-4
45
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable 59-30-3 6037
46
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable 83-88-5 493570
47 Anti-Arrhythmia Agents Phase 2, Phase 3,Not Applicable
48 Trace Elements Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
49 Vitamin B9 Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
50 Folate Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 354)
# 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 Multi Laser Platform Comparison Study for LASIK Unknown status NCT00770094 Phase 4
5 Comparison of Toric IOL Implantation and Opposite Clear Corneal Incision During Cataract Surgery to Correct Corneal Astigmatism Completed NCT01763151 Phase 4
6 Use of Toric Intraocular Lens to Neutralize Keratometric Astigmatism Completed NCT00925886 Phase 4
7 Intrastromal Corneal Ring for High Astigmatism on Postkeratoplasty Completed NCT01018797 Phase 4
8 Clinical Performance of Biofinity Toric Versus Air Optix for Astigmatism Completed NCT01965288 Phase 4
9 Prospective Evaluation of the Effectiveness of the Femtosecond Laser-assisted Refractive Astigmatic Keratotomy. Completed NCT01885780 Phase 4
10 Safety and Effectiveness of the Akreos Toric Intraocular Lens. Completed NCT00825513 Phase 4
11 High Resolution Wavefront-guided vs. Wavefront Optimized LASIK Active, not recruiting NCT02565537 Phase 4
12 LASIK Using the Alcon Allegretto Wavefront-Guided Excimer Laser vs AMO Visx Wavefront-Guided Excimer Laser Active, not recruiting NCT01454843 Phase 4
13 Wavefront-guided PRK vs Wavefront-optimized PRK Active, not recruiting NCT02091934 Phase 4
14 A Intra-patient Comparison of Closed Loop and Plate Haptic Toric Intraocular Lenses Recruiting NCT02264457 Phase 4
15 Clinical Performance of Habitual Hydrogel vs. Silicone Hydrogel Toric Contact Lenses Completed NCT02142361 Phase 4
16 Contralateral Comparison of Three Excimer Laser Systems in Performing LASIK Completed NCT00821236 Phase 4
17 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
18 Wavefront-guided Photorefractive Keratectomy (PRK) Versus Wavefront-guided Lasik for Myopia Active, not recruiting NCT01140594 Phase 4
19 Low Cylinder Toric Completed NCT00732030 Phase 4
20 Recommendations for Monitoring Clinical Experience Following Implantation of the AcrySof® Toric Withdrawn NCT00761488 Phase 4
21 An Evaluation of Outcomes Following Wavefront Optimized or Wavefront Guided Lasik Procedure in Low to Moderate Myopic Patients Completed NCT01173198 Phase 4
22 Visual Outcomes After Implantation of a New Multifocal Intraocular Lens Completed NCT01505816 Phase 4
23 Daily Wear Corneal Infiltrative Event Study Completed NCT00937105 Phase 4
24 Strategies for Management of Recurrent Pterygium Active, not recruiting NCT02530801 Phase 4 Bevacizumab;5 fluorouracil
25 Topical Cyclosporine for Vernal Keratoconjunctivitis (VKC) in Rwanda Completed NCT01211327 Phase 4 Cyclosporine A;Dexamethasone
26 Co-Axial Micro-Incision Versus Co-Axial Small Incision Cataract Surgery Using the Stellaris Enhancement System Completed NCT01261975 Phase 4
27 A Prospective, Contralateral, Eye to Eye Comparison of SMILE Surgery to LASIK Surgery Recruiting NCT03067077 Phase 4
28 SUPRACOR for Myopia and Myopic Astigmatism Unknown status NCT01404884 Phase 3
29 Evaluation of the BunnyLens TR Intraocular Lens Unknown status NCT01659801 Phase 3
30 Intrastromal Correction of Ametropia by a Femtosecond Laser Unknown status NCT00928122 Phase 3
31 Comparison of Penetrating Keratoplasty and Deep Lamellar Keratoplasty With the Big Bubble Technique for Keratoconus Unknown status NCT00371202 Phase 3
32 Treatment of Keratoconus Using Collagen Cross-Linking Unknown status NCT00841386 Phase 2, Phase 3 Riboflavin-5-phosphate;Sham cross-linking
33 Collagen Crosslinking for Keratoconus - a Randomized Controlled Clinical Trial Unknown status NCT01604135 Phase 3
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 Corneal Cross Linking and Topography Guided Excimer Laser Treatment Terminated NCT01682993 Phase 3
40 Correction of Myopia Evaluation Trial 2 Completed NCT00320593 Phase 3
41 Effects of Prismatic Spectacle Lenses on Symptoms of Dizziness, Headache and Anxiety as Caused by Vertical Heterophoria Completed NCT00785135 Phase 3
42 Economic Evaluation of Femtosecond Laser Assisted Cataract Surgery Completed NCT01982006 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 Myoring Versus Keraring Implantation for Keratoconus Unknown status NCT01869517 Phase 2
45 Safety and Effectiveness of Arcuate Incisions Performed With the iFS Femtosecond Laser System Completed NCT01348854 Phase 2
46 Safety and Efficacy of Corneal Collagen Cross-linking Following LASIK for Treatment of Hyperopia and Hyperopic Astigmatism Terminated NCT01893359 Phase 1, Phase 2 riboflavin ophthalmic solution, 0% dextran
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 Pupil Centroid Shift Compensation in Photorefractive Keratectomy Candidates Recruiting NCT03844178 Phase 2 installation of Tetracaine 1%

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 30

Anatomical Context for Astigmatism

MalaCards organs/tissues related to Astigmatism:

42
Eye, Retina, Endothelial, Testes, Cortex, Neutrophil

Publications for Astigmatism

Articles related to Astigmatism:

(show top 50) (show all 2408)
# Title Authors Year
1
Suturing technique for scleral fixation of toric intraocular lens in the traumatic aphakic eye with corneal astigmatism. ( 29667423 )
2019
2
The Role of Ocular Response Analyzer in Differentiation of Forme Fruste Keratoconus From Corneal Astigmatism. ( 30265255 )
2019
3
Myopia and myopic astigmatism photorefractive keratectomy: applying an advanced multiple regression-derived nomogram. ( 30121713 )
2019
4
Correction of myopic astigmatism by small incision lenticule extraction: does laterality matter? ( 30105485 )
2019
5
Three-year outcomes of small incision lenticule extraction (SMILE) and femtosecond laser-assisted laser in situ keratomileusis (FS-LASIK) for myopia and myopic astigmatism. ( 30061116 )
2019
6
Enantiomorphism and rule similarity in the astigmatism axes of fellow eyes: A population-based study. ( 29625892 )
2019
7
Posterior Chamber Phakic Intraocular Lens Implantation for the Correction of Myopia and Myopic Astigmatism: A Retrospective 10-Year Follow-Up Study. ( 31078536 )
2019
8
Effect of Cyclotorsion Compensation With a Novel Technique in Small Incision Lenticule Extraction Surgery for the Correction of Myopic Astigmatism. ( 31059579 )
2019
9
Electrophysiological and Psychophysical Studies of Meridional Anisotropies in Children With and Without Astigmatism. ( 31042798 )
2019
10
Management of astigmatism during cataract surgery. ( 31030772 )
2019
11
Influence of preoperative astigmatism on corneal biomechanics and accurate intraocular pressure measurement after micro-incision phacoemulsification. ( 31024811 )
2019
12
The Effect of Corneal Higher Order Aberrations on Postoperative Residual Astigmatism after Toric IOL Implantation. ( 31017508 )
2019
13
Correlation Between Anterior Corneal Elevation Differences in Main Meridians and Corneal Astigmatism. ( 31008824 )
2019
14
The components of adult astigmatism and their age-related changes. ( 30994201 )
2019
15
Utilizing intraoperative aberrometry and digital eye tracking to develop a novel nomogram for manual astigmatic keratotomy to effectively decrease mild astigmatism during cataract surgery. ( 30993064 )
2019
16
Deep Intrastromal Arcuate Keratotomy With In Situ Keratomileusis (DIAKIK) for the Treatment of High Astigmatism After Keratoplasty: 2-Year Follow-up. ( 30984981 )
2019
17
Comparison of Small Incision Lenticule Extraction Surgery With and Without Cyclotorsion Error Correction for Patients With Astigmatism. ( 30950894 )
2019
18
Comparison of Toric and Spherical Orthokeratology Lenses in Patients with Astigmatism. ( 30949364 )
2019
19
Xtra focus pinhole IOL (Morchers GMBH) a novel approach to tackle irregular astigmatism and large pupillary defects with a single step surgery. ( 30948405 )
2019
20
Impact of ocular residual astigmatism on predictability of myopic astigmatism correction after small-incision lenticule extraction. ( 30947856 )
2019
21
Comparison of manual and femtosecond laser arcuate keratotomy procedures for the correction of post-keratoplasty astigmatism. ( 30930657 )
2019
22
Comparison of visual quality in cataract patients with low astigmatism after ART2 or ReSTOR intraocular lens implantation. ( 30918811 )
2019
23
Correction of Myopia and Myopic Astigmatism by Implantation of a Phakic Posterior Chamber Implantable Collamer Lens. ( 30913890 )
2019
24
Correcting astigmatism at the time of cataract surgery: Toric IOLs and corneal relaxing incisions planned with an image-guidance system and intraoperative aberrometer versus manual planning and surgery. ( 30902431 )
2019
25
Correlation between iris-registered static and dynamic cyclotorsions with preoperative refractive astigmatism in PRK candidates. ( 30899844 )
2019
26
Surgically induced astigmatism in canines following sutured dorsonasal vs dorsotemporal clear corneal incisions. ( 30884062 )
2019
27
Corneal dioptric power and astigmatism: A comparison between colour light-emitting diode based (CassiniTM) and Scheimpgflug technology (PentacamTM) topography. ( 30878244 )
2019
28
General formula to design a freeform singlet free of spherical aberration and astigmatism. ( 30874149 )
2019
29
Suture Removal After Trabeculectomy With Fornix-based Conjunctival Flap Leads to Faster Visual Recovery but Not Reduced Astigmatism. ( 30855411 )
2019
30
Correction of Astigmatism With SMILE With Axis Alignment: 6-Month Results From 622 Eyes. ( 30855090 )
2019
31
Three-year follow-up of intrastromal corneal ring segment implantation in central keratoconus with regular astigmatism: 'Bow-tie' shape. ( 30845839 )
2019
32
Phacoemulsification With 3.0 and 2.0 mm Opposite Clear Corneal Incisions for Correction of Corneal Astigmatism. ( 30844842 )
2019
33
Consensus on the management of astigmatism in cataract surgery. ( 30809088 )
2019
34
Interocular Symmetry of Fixation, Optic Disc, and Corneal Astigmatism in Bilateral High Myopia: The Shanghai High Myopia Study. ( 30783557 )
2019
35
Efficacy of 4-Haptic Bitoric Intraocular Lens Implantation in Asian Patients with Cataract and Astigmatism. ( 30746910 )
2019
36
Iris colour and astigmatism among Chinese teenagers. ( 30745308 )
2019
37
Primary Topography-Guided LASIK: Refractive, Visual, and Subjective Quality of Vision Outcomes for Astigmatism ⩾2.00 Diopters. ( 30742221 )
2019
38
Astigmatism terminology for corneal and intraocular lens-based surgery. ( 30704741 )
2019
39
Small-incision lenticule extraction in a patient with high astigmatism and nystagmus. ( 30686703 )
2019
40
Gender-differences in age-related changes of corneal astigmatism in Korean cataract patients. ( 30678644 )
2019
41
Effects of astigmatic keratotomy combined with scleral tunnel incisions for the treatment of high astigmatism after penetrating keratoplasty. ( 30651827 )
2019
42
Preschool Children Exhibit Evident Compensatory Role of Internal Astigmatism in Distribution of Astigmatism: The Nanjing Eye Study. ( 30640973 )
2019
43
An Ineffective Astigmatism Analysis. ( 30633790 )
2019
44
Influence of Preoperative Astigmatism Type and Magnitude on the Effectiveness of SMILE Correction. ( 30633786 )
2019
45
Primary Topography-Guided LASIK: Treating Manifest Refractive Astigmatism Versus Topography-Measured Anterior Corneal Astigmatism. ( 30633783 )
2019
46
Influence of peripheral corneal relaxing incisions during cataract surgery for corneal astigmatism up to 2.5 dioptres on corneal densitometry. ( 30602756 )
2019
47
Wavefront-Guided Photorefractive Keratectomy in the Treatment of High Astigmatism Following Keratoplasty. ( 30557231 )
2019
48
Visual acuity in patients with keratoconus: a comparison with matched regular myopic astigmatism. ( 30535968 )
2019
49
Improving toric intraocular lens calculations using total surgically induced astigmatism for a 2.5 mm temporal incision. ( 30527793 )
2019
50
Trial-based cost-effectiveness analysis of toric versus monofocal intraocular lenses in cataract patients with bilateral corneal astigmatism in the Netherlands. ( 30471848 )
2019

Variations for Astigmatism

ClinVar genetic disease variations for Astigmatism:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 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
2 subset of 29 genes:TBX1 GRCh37/hg19 22q11.21(chr22: 18894835-20311763) copy number loss Pathogenic GRCh37 Chromosome 22, 18894835: 20311763
3 SLC9A6 NM_001042537.1(SLC9A6): c.1346C> A (p.Ala449Glu) single nucleotide variant Uncertain significance rs1556619324 GRCh38 Chromosome X, 136016754: 136016754
4 SLC9A6 NM_001042537.1(SLC9A6): c.1346C> A (p.Ala449Glu) single nucleotide variant Uncertain significance rs1556619324 GRCh37 Chromosome X, 135098913: 135098913
5 EYS NM_001142800.1(EYS): c.8519A> G (p.Glu2840Gly) single nucleotide variant Uncertain significance rs1554163965 GRCh38 Chromosome 6, 63721512: 63721512
6 EYS NM_001142800.1(EYS): c.8519A> G (p.Glu2840Gly) single nucleotide variant Uncertain significance rs1554163965 GRCh37 Chromosome 6, 64431408: 64431408
7 GRIN2B NM_000834.4(GRIN2B): c.2002G> A (p.Asp668Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs876661151 GRCh37 Chromosome 12, 13761545: 13761545
8 GRIN2B NM_000834.4(GRIN2B): c.2002G> A (p.Asp668Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs876661151 GRCh38 Chromosome 12, 13608611: 13608611
9 ANKRD11 NM_013275.5(ANKRD11): c.5317G> T (p.Glu1773Ter) single nucleotide variant Pathogenic rs1114167291 GRCh38 Chromosome 16, 89281225: 89281225
10 ANKRD11 NM_013275.5(ANKRD11): c.5317G> T (p.Glu1773Ter) single nucleotide variant Pathogenic rs1114167291 GRCh37 Chromosome 16, 89347633: 89347633

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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.62 CACNA1F GPR143 KRT12 VAX2
2 positive regulation of protein kinase B signaling GO:0051897 9.58 TNFAIP8L3 NRXN1 PDGFRA
3 phosphatidylinositol-mediated signaling GO:0048015 9.49 GPR143 PDGFRA
4 skeletal system morphogenesis GO:0048705 9.48 ANKRD11 PDGFRA
5 face morphogenesis GO:0060325 9.46 ANKRD11 PDGFRA
6 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.43 PDGFRA TNFAIP8L3
7 negative regulation of BMP signaling pathway GO:0030514 9.43 CER1 GREM2 NBL1
8 signal transduction involved in regulation of gene expression GO:0023019 9.37 CER1 PDGFRA
9 sequestering of BMP in extracellular matrix GO:0035582 9.16 CER1 NBL1
10 sequestering of BMP from receptor via BMP binding GO:0038098 8.96 GREM2 NBL1
11 determination of dorsal identity GO:0048263 8.8 NBL1 CER1 GREM2

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

# Name GO ID Score Top Affiliating Genes
1 morphogen activity GO:0016015 8.96 CER1 NBL1
2 BMP binding GO:0036122 8.8 CER1 GREM2 NBL1

Sources for Astigmatism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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