Aliases & Classifications for Corneal Dystrophy

MalaCards integrated aliases for Corneal Dystrophy:

Name: Corneal Dystrophy 12 76 29 55 6 15 73

Classifications:



External Ids:

Disease Ontology 12 DOID:2566
ICD10 33 H18.5 H18.50
ICD9CM 35 371.5 371.50
MeSH 44 D003317

Summaries for Corneal Dystrophy

MalaCards based summary : Corneal Dystrophy is related to corneal dystrophy, avellino type and corneal dystrophy, endothelial, x-linked. An important gene associated with Corneal Dystrophy is ZEB1 (Zinc Finger E-Box Binding Homeobox 1). The drugs Loteprednol and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include endothelial, eye and skin, and related phenotype is vision/eye.

Wikipedia : 76 Corneal dystrophy is a group of rare hereditary disorders characterised by bilateral abnormal deposition... more...

Related Diseases for Corneal Dystrophy

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

(show top 50) (show all 133)
# Related Disease Score Top Affiliating Genes
1 corneal dystrophy, avellino type 34.9 CHST6 TGFBI
2 corneal dystrophy, endothelial, x-linked 34.2 SLC4A11 VSX1
3 corneal dystrophy, lattice type i 34.1 GSN TGFBI
4 corneal dystrophy, reis-bucklers type 34.0 TACSTD2 TGFBI
5 macular dystrophy, corneal 33.9 CHST6 KRT12 TGFBI UBIAD1
6 corneal dystrophy, posterior polymorphous, 2 33.6 COL8A2 SLC4A11 VSX1 ZEB1
7 corneal dystrophy, meesmann 33.5 CHST6 COL8A2 KRT12 KRT3 TGFBI
8 corneal dystrophy, posterior polymorphous, 1 33.2 COL8A2 OVOL2 SLC4A11 VSX1 ZEB1
9 corneal dystrophy, gelatinous drop-like 33.2 CHST6 GSN KRT12 TACSTD2 TGFBI
10 lattice corneal dystrophy 33.2 GSN TACSTD2 TGFBI
11 corneal dystrophy, fuchs endothelial, 3 33.2 MBNL1 TCF4
12 epithelial basement membrane dystrophy 33.1 COL8A2 TGFBI
13 corneal dystrophy, posterior polymorphous, 3 32.9 COL8A2 OVOL2 SLC4A11 VSX1 ZEB1
14 corneal granular dystrophy 32.1 KRT12 KRT3 TGFBI UBIAD1
15 fuchs' endothelial dystrophy 31.7 AGBL1 COL8A2 SLC4A11 TCF4 TGFBI VSX1
16 corneal endothelial dystrophy 31.5 CHST6 COL8A2 KRT12 KRT3 OVOL2 SLC4A11
17 corneal dystrophy, thiel-behnke type 30.8 CHST6 COL17A1 COL8A2 GSN KRT12 KRT3
18 corneal edema 30.2 COL8A2 SLC4A11 TGFBI
19 corneal degeneration 30.2 KRT12 TGFBI VSX1
20 keratoconus 28.7 COL8A2 GSN KRT12 KRT3 TGFBI VSX1
21 corneal dystrophy, congenital stromal 12.6
22 corneal dystrophy, groenouw type i 12.6
23 corneal dystrophy, fleck 12.6
24 corneal dystrophy, epithelial basement membrane 12.6
25 schnyder corneal dystrophy 12.6
26 corneal dystrophy and perceptive deafness 12.5
27 corneal dystrophy, lattice type iiia 12.5
28 corneal dystrophy, fuchs endothelial, 1 12.4
29 corneal dystrophy, fuchs endothelial, 2 12.3
30 corneal dystrophy, lisch epithelial 12.3
31 corneal dystrophy, fuchs endothelial, 4 12.3
32 corneal dystrophy, fuchs endothelial, 6 12.3
33 corneal dystrophy, posterior amorphous 12.3
34 lattice corneal dystrophy type ii 12.3
35 corneal dystrophy, subepithelial mucinous 12.3
36 corneal dystrophy, fuchs endothelial, 8 12.2
37 corneal dystrophy, fuchs endothelial, 5 12.2
38 spinocerebellar degeneration and corneal dystrophy 12.2
39 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia 12.1
40 pre-descemet corneal dystrophy 12.1
41 grayson-wilbrandt corneal dystrophy 12.0
42 honey-droplet corneal dystrophy 12.0
43 corneal dystrophy, fuchs endothelial, 7 12.0
44 corneal dystrophy, band-shaped 12.0
45 congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome 11.9
46 spondyloepiphyseal dysplasia with punctate corneal dystrophy 11.9
47 corneal dystrophy ichthyosis microcephaly mental retardation 11.9
48 corneal dystrophy pigmentary anomaly malabsorption 11.9
49 corneodermatoosseous syndrome 11.8
50 amyloidosis, finnish type 11.8

Graphical network of the top 20 diseases related to Corneal Dystrophy:



Diseases related to Corneal Dystrophy

Symptoms & Phenotypes for Corneal Dystrophy

MGI Mouse Phenotypes related to Corneal Dystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.4 KRT12 MBNL1 OVOL2 SLC4A11 TCF4 TGFBI

Drugs & Therapeutics for Corneal Dystrophy

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

(show top 50) (show all 53)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Loteprednol Approved Phase 4 82034-46-6, 129260-79-3 444025 9865442
2
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2 83-43-2 6741
3
Prednisolone Approved, Vet_approved Phase 4,Phase 2 50-24-8 5755
4 Anti-Inflammatory Agents Phase 4,Phase 2,Not Applicable
5 Pharmaceutical Solutions Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
6 Anti-Allergic Agents Phase 4,Phase 2
7 Antiemetics Phase 4,Phase 2
8 Antineoplastic Agents, Hormonal Phase 4,Phase 2
9 Autonomic Agents Phase 4,Phase 1,Phase 2
10 Gastrointestinal Agents Phase 4,Phase 2
11 glucocorticoids Phase 4,Phase 2
12 Hormone Antagonists Phase 4,Phase 2
13 Hormones Phase 4,Phase 2
14 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2
15 Methylprednisolone acetate Phase 4,Phase 2
16 Methylprednisolone Hemisuccinate Phase 4,Phase 2
17 Neuroprotective Agents Phase 4,Phase 2
18 Ophthalmic Solutions Phase 4,Phase 3,Phase 1,Phase 2
19 Peripheral Nervous System Agents Phase 4,Phase 1,Phase 2
20 Prednisolone acetate Phase 4,Phase 2
21 Prednisolone hemisuccinate Phase 4,Phase 2
22 Prednisolone phosphate Phase 4,Phase 2
23 Protective Agents Phase 4,Phase 2,Phase 1
24 Tetrahydrozoline Phase 4,Phase 3,Phase 1,Phase 2
25
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 3 83-88-5 493570
26 Vitamin B2 Nutraceutical Phase 3
27
Ephedrine Approved Phase 1, Phase 2 299-42-3 9294
28
Pseudoephedrine Approved Phase 1, Phase 2 90-82-4 7028
29
Fluorometholone Approved, Investigational Phase 2 426-13-1 9878
30
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
31 Nasal Decongestants Phase 1, Phase 2
32 Respiratory System Agents Phase 1, Phase 2
33 Vasoconstrictor Agents Phase 1, Phase 2
34 HIV Protease Inhibitors Phase 2,Not Applicable
35
protease inhibitors Phase 2,Not Applicable
36 BB 1101 Phase 2
37 Dexamethasone acetate Phase 2 1177-87-3
38
Fomepizole Approved, Vet_approved Phase 1 7554-65-6 3406
39 Antidotes Phase 1
40
Hyaluronic acid Approved, Vet_approved 9004-61-9 53477741
41 Anesthetics Not Applicable
42 Central Nervous System Depressants Not Applicable
43 Matrix Metalloproteinase Inhibitors Not Applicable
44 Superoxide Dismutase Not Applicable
45 TIMP1 protein, human Not Applicable
46 TIMP3 protein, human Not Applicable
47 Tissue Inhibitor of Metalloproteinase-1 Not Applicable
48 Tissue Inhibitor of Metalloproteinase-3 Not Applicable
49 Tissue Inhibitor of Metalloproteinases Not Applicable
50 Adjuvants, Immunologic

Interventional clinical trials:

(show top 50) (show all 61)
# Name Status NCT ID Phase Drugs
1 Evaluating Results of Neusidl Corneal Inserter in Descemet's Stripping Automated Endothelial Keratoplasty (DSAEK) Unknown status NCT01357122 Phase 4
2 Fuchs' Torsional Phaco Study Completed NCT00781027 Phase 4
3 Comparison of Corticosteroid Dosing Regimens After Endothelial Keratoplasty Completed NCT01853696 Phase 4 loteprednol etabonate;prednisolone acetate 1%
4 Glanatec(R) for Descemet Stripping in Fuch's Endothelial Dystrophy Recruiting NCT03249337 Phase 4 Ripasudil hydrochloride hydrate 0.4% ophthalmic solution
5 Cacicol20® in Corneal Wound Healing and Nerve Regeneration After Phototherapeutic Keratectomy Terminated NCT02373397 Phase 4
6 The Effects of Corneal Collagen Cross-linking Recruiting NCT01708538 Phase 3 CXL
7 Trial of Netarsudil for Prevention of Corticosteroid-induced Intraocular Pressure Elevation Recruiting NCT03248037 Phase 3 Netarsudil;Placebo
8 Utilization of Amniotic Membrane Extract Eye Drop (AMEED) on Human Corneal Healing Completed NCT02746848 Phase 1, Phase 2
9 Comparison of Two Steroid Regimens to Prevent Transplant Rejection After Corneal Transplant (DMEK) Completed NCT01448213 Phase 2 Prednisolone acetate;Fluorometholone
10 Ripasudil 0.4% Eye Drops in Fuchs Endothelial Corneal Dystrophy Recruiting NCT03575130 Phase 2 Ripasudil eye drops;Optive eye drops
11 Immunosuppression During Penetrating Keratoplasty, Using a Subconjunctival Implant Releasing Dexamethasone : Tolerance and Safety Pilot Study Recruiting NCT02834260 Phase 2 Dexamethasone implant OZURDEX
12 A Study Investigating the Safety, Tolerability, and Efficacy of Elamipretide Topical Ophthalmic Solution for the Treatment of Fuchs' Corneal Endothelial Dystrophy (FCED) Active, not recruiting NCT02653391 Phase 1, Phase 2 Elamipretide 1.0% Ophthalmic Solution;Elamipretide 3.0% Ophthalmic Solution
13 Phase 1 Pilot Study of 4-MP to Treat Stargardt Macular Dystrophy Completed NCT00346853 Phase 1 4-Methylpyrazole
14 Study of the Prevalence of TGFBI Corneal Dystrophies Unknown status NCT02746055
15 Corneal Transplantation Guided by OCT RESCAN Unknown status NCT02736877 Not Applicable
16 Corneal Endothelium Morphology and Central Thickness in Type II Diabetes Mellitus and Normal Subjects Unknown status NCT01084850
17 Early Experience With Descemet's Stripping Automated Endothelial Keratoplasty Unknown status NCT00744796 Not Applicable
18 Comparison of Corneal Grafts Cultured in Serum-free Versus Corneal Grafts Cultured in Serum Supplemented Culture Media Unknown status NCT00623584 Not Applicable
19 DSAEK- Postoperative Positioning and Transplant Dislocation Unknown status NCT01206127 Not Applicable
20 Clinical Efficacy of the Pinhole Soft Contact Lenses for Correcting Presbyopia Unknown status NCT02612584 Not Applicable
21 Hyper-CL™ Lens (Hyper Osmotic Contact Lens) In Subjects Suffering From Corneal Edema Unknown status NCT01890252 Not Applicable saline solution
22 Topical Anesthesia for Closed PKP vs Retrobulbar Anesthesia for Open-sky PKP Unknown status NCT02826174 Not Applicable Anti-Rejection Agents;Anti-Inflammatory Agents
23 Outcome After Descemet Membrane Endothelial Keratoplasty (DMEK) and Ultra-thin Descemet Stripping Automated Endothelial Keratoplasty (DSAEK) Unknown status NCT02020044 Not Applicable
24 Spectral-domain Optical Coherence Tomography of the Eye Unknown status NCT02614625
25 Cornea Donor Study Unknown status NCT00006411 Not Applicable
26 Comparing Endoglide to Endoserter for DSAEK Graft Insertion Unknown status NCT01791075 Not Applicable
27 Studies in Families With Corneal Dystrophy or Other Inherited Corneal Diseases Completed NCT00357435
28 The Molecular Pathogenesis of Late-onset Fuchs' Endothelial Corneal Dystrophy Completed NCT01795001
29 Combined Cataract Surgery and Planned Descemetorhexis Completed NCT02206594 Not Applicable
30 Fuchs' Endothelial Dystrophy: Clinical Characteristics, Treatment Outcome, and Pathology Completed NCT01979250 Not Applicable
31 Optimizing the Ocular Surface Prior to Cataract Surgery Completed NCT02766907 Not Applicable
32 Evaluation of Tomographic and Genetic Aspects of Keratoconus Patients Compared to Sounds Corneas Completed NCT03071302 Not Applicable
33 Laser Assisted Procedures in Penetrating Keratoplasty Completed NCT02173847 Not Applicable
34 The German Keratoplasty Registry of the German Ophthalmological Society (DOG) Completed NCT03381794
35 ODM 5 in the Treatment of Corneal Edematous Fuchs' Endothelial Dystrophy Completed NCT02332109
36 Comparison of Two Techniques in Achieving Corneal Graft Completed NCT01610973 Not Applicable
37 Study of Eye Bank Pre-cut Donor Grafts for Endothelial Keratoplasty Completed NCT00624221 Not Applicable
38 Long Term Cornea Graft Survival Study Completed NCT02849808
39 PIONEER: Intraoperative and Perioperative OCT Study Completed NCT02423161
40 Impact of Cataract Surgery on Keratoplasty Graft Survival Completed NCT02875145
41 A Comparison Between Full Thickness and Partial Thickness Corneal Transplantation for Corneal Edema Completed NCT00346138 Not Applicable
42 Correlation Between In-vivo Anatomy of Corneal Dystrophies as Assessed by High- Resolution Optical Coherence Tomography (OCT) Measurement and Histological Examination Recruiting NCT03461991 Not Applicable
43 Assessment of Corneal Graft Attachment in Patients With Fuchs Endothelial Corneal Dystrophy Following DMEK Using Ultra-high Resolution OCT Recruiting NCT02542644 Not Applicable
44 Descemet Stripping (Automated) Endothelial Keratoplasty (DSEK or DSAEK) Recruiting NCT00543660 Not Applicable
45 Descemet Membrane Endothelial Keratoplasty (DMEK) Recruiting NCT00521898 Not Applicable
46 Autologous Adipose-Derived Adult Stem Cell Transplantation for Corneal Diseases Recruiting NCT02932852 Early Phase 1
47 DMEK Versus DSAEK Study Recruiting NCT02793310 Not Applicable
48 Study of Using the Hyper-CL™ Lens (Hyper Osmotic Contact Lens) in Subjects Suffering From Corneal Edema Recruiting NCT02660151 Not Applicable Salt solution
49 Study of Endothelial Keratoplasty Outcomes Recruiting NCT00800111 Not Applicable
50 Optical Coherence Tomography Guided Transepithelial Phototherapeutic Keratectomy Recruiting NCT01243931 Not Applicable OCT-guided laser phototherapeutic keratectomy

Search NIH Clinical Center for Corneal Dystrophy

Genetic Tests for Corneal Dystrophy

Genetic tests related to Corneal Dystrophy:

# Genetic test Affiliating Genes
1 Corneal Dystrophy 29

Anatomical Context for Corneal Dystrophy

MalaCards organs/tissues related to Corneal Dystrophy:

41
Endothelial, Eye, Skin, Testes, Kidney, Cerebellum

Publications for Corneal Dystrophy

Articles related to Corneal Dystrophy:

(show top 50) (show all 901)
# Title Authors Year
1
Deep anterior lamellar keratoplasty or penetrating keratoplasty in lattice corneal dystrophy. ( 29676313 )
2018
2
Quarter-Descemet membrane endothelial keratoplasty (Quarter-DMEK) for Fuchs endothelial corneal dystrophy: 6 months clinical outcome. ( 29343529 )
2018
3
Repeat-Associated Non-ATG (RAN) Translation in Fuchs' Endothelial Corneal Dystrophy. ( 29677349 )
2018
4
Lithium chloride (LiCl) induced autophagy and downregulated expression of transforming growth factor I^-induced protein (TGFBI) in granular corneal dystrophy. ( 29679546 )
2018
5
Analysis of candidate genes ZEB1 and LOXHD1 in late-onset Fuchs' endothelial corneal dystrophy in an Indian cohort. ( 29799290 )
2018
6
Simultaneous Presence of Macular Corneal Dystrophy and Retinitis Pigmentosa in Three Members of a Family. ( 29749994 )
2018
7
Confirmation and refinement of the heterozygous deletion of the small leucine-rich proteoglycans associated with posterior amorphous corneal dystrophy. ( 29671669 )
2018
8
Gene Editing as a Potential Therapeutic Solution for Fuchs Endothelial Corneal Dystrophy: The Future Is Clearer. ( 29931030 )
2018
9
Function-Related Protein Expression in Fuchs Endothelial Corneal Dystrophy Cells and Tissue Models. ( 29698634 )
2018
10
Association Between Visual Acuity and the Corneal Area Occupied by Granular Lesions, Linear Lesions, or Diffuse Haze in Patients With Granular Corneal Dystrophy Type 2. ( 29443809 )
2018
11
Outcomes of conventional phacoemulsification versus femtosecond laser-assisted cataract surgery in eyes with Fuchs endothelial corneal dystrophy. ( 29773458 )
2018
12
Gene expression in the corneal endothelium of Fuchs endothelial corneal dystrophy patients with and without expansion of a trinucleotide repeat in TCF4. ( 29966009 )
2018
13
Corneal Optical Changes Associated with Induced Edema in Fuchs Endothelial Corneal Dystrophy. ( 29408827 )
2018
14
Hyperopic Trend after Cataract Surgery in Eyes with Fuchs' Endothelial Corneal Dystrophy. ( 29716785 )
2018
15
Pathological molecular mechanism of symptomatic late-onset Fuchs endothelial corneal dystrophy by bioinformatic analysis. ( 29787599 )
2018
16
Medical and Semi-surgical Treatments for Fuchs Endothelial Corneal Dystrophy. ( 29723889 )
2018
17
Post-LASIK exacerbation of granular corneal dystrophy type 2 in members of a chinese family. ( 29192679 )
2018
18
Outcomes of keratoplasty in lattice corneal dystrophy in a large cohort of Indian eyes. ( 29676312 )
2018
19
Association of the Gutta-Induced Microenvironment With Corneal Endothelial Cell Behavior and Demise in Fuchs Endothelial Corneal Dystrophy. ( 29852040 )
2018
20
Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy. ( 29676012 )
2018
21
Granular corneal dystrophy: an enigma resolved. ( 29943099 )
2018
22
Feasibility of cell-based therapy combined with descemetorhexis for treating Fuchs endothelial corneal dystrophy in rabbit model. ( 29338061 )
2018
23
Regenerative Therapy for Fuchs Endothelial Corneal Dystrophy. ( 29384808 )
2018
24
Long-term Clinical Outcomes of Phototherapeutic Keratectomy in Corneas With Granular Corneal Dystrophy Type 2 Exacerbated After LASIK. ( 29425392 )
2018
25
Defect in phosphoinositide signalling through a homozygous variant in<i>PLCB3</i>causes a new form of spondylometaphyseal dysplasia with corneal dystrophy. ( 29122926 )
2018
26
Femtosecond laser-assisted cataract surgery in Fuchs' endothelial corneal dystrophy: Long-term outcomes. ( 29958766 )
2018
27
Long-Term Outcome After Penetrating Keratoplasty in a Pedigree With the G177E Mutation in the UBIAD1 Gene for Schnyder Corneal Dystrophy. ( 29319599 )
2018
28
Optical coherence tomography and confocal microscopy aspects of a Schnyder's corneal dystrophy case. ( 29778283 )
2018
29
Fuchs endothelial corneal dystrophy and macular drusen: evidence for coincidence? ( 29350686 )
2018
30
NQO1 downregulation potentiates menadione-induced endothelial-mesenchymal transition during rosette formation in Fuchs endothelial corneal dystrophy. ( 29294389 )
2018
31
A Mouse Model of Schnyder Corneal Dystrophy with the N100S Point Mutation. ( 29977031 )
2018
32
Factors Influencing Visual Acuity in Fuchs' Endothelial Corneal Dystrophy. ( 29252902 )
2018
33
Mice, double deficient in lysosomal serine carboxypeptidases Scpep1 and Cathepsin A develop the hyperproliferative vesicular corneal dystrophy and hypertrophic skin thickenings. ( 28234994 )
2017
34
Thick keratoconic cornea associated with posterior polymorphous corneal dystrophy. ( 28089285 )
2017
35
Vps35-deficiency impairs SLC4A11 trafficking and promotes corneal dystrophy. ( 28934248 )
2017
36
Posterior Amorphous Corneal Dystrophy Associated With Keratoglobus: A Case Report. ( 28902010 )
2017
37
Transforming growth factor I^ induced mutation-associated phenotype in a Chinese family exhibiting lattice corneal dystrophy. ( 29085627 )
2017
38
Trinucleotide Repeat Expansion in the Transcription Factor 4 (TCF4) Gene Leads to Widespread mRNA Splicing Changes in Fuchs' Endothelial Corneal Dystrophy. ( 28118661 )
2017
39
Recurrence of Granular Corneal Dystrophy Type 1 After Phototherapeutic Keratectomy, Lamellar Keratoplasty, and Penetrating Keratoplasty in a Single Population. ( 28749898 )
2017
40
Intracorneal melatonin delivery using 2-hydroxypropyl-I^-cyclodextrin ophthalmic solution for granular corneal dystrophy type 2. ( 28694094 )
2017
41
[Analysis of TGFBI gene mutation in a Chinese family affected with Reis-Bucklers corneal dystrophy]. ( 28981920 )
2017
42
CTG18.1 Expansion in TCF4 Among African Americans With Fuchs' Corneal Dystrophy. ( 29196769 )
2017
43
Effect of position-specific single-point mutations and biophysical characterization of amyloidogenic peptide fragments identified from lattice corneal dystrophy patients. ( 28381645 )
2017
44
CTG18.1 Expansion in TCF4 Increases Likelihood of Transplantation in Fuchs Corneal Dystrophy. ( 27755191 )
2017
45
Confirmation of the OVOL2 Promoter Mutation c.-307T&amp;gt;C in Posterior Polymorphous Corneal Dystrophy 1. ( 28046031 )
2017
46
Mutation-Induced Deamidation of Corneal Dystrophy-Related Transforming Growth Factor I^-Induced Protein. ( 29140698 )
2017
47
Corneal Backscatters as an Objective Index for Assessing Fuchs' Endothelial Corneal Dystrophy: A Pilot Study. ( 28751984 )
2017
48
Peripheral Endothelial Cell Count Is a Predictor of Disease Severity in Advanced Fuchs Endothelial Corneal Dystrophy. ( 28731879 )
2017
49
Association of polymorphisms in the intron of TCF4 gene to late-onset Fuchs endothelial corneal dystrophy: An Indian cohort study. ( 29044056 )
2017
50
Transcriptomic Profiling of Posterior Polymorphous Corneal Dystrophy. ( 28654985 )
2017

Variations for Corneal Dystrophy

ClinVar genetic disease variations for Corneal Dystrophy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ZEB1 NM_030751.5(ZEB1): c.1576dup (p.Val526Glyfs) duplication Pathogenic rs766305306 GRCh38 Chromosome 10, 31520911: 31520911
2 ZEB1 NM_030751.5(ZEB1): c.1576dup (p.Val526Glyfs) duplication Pathogenic rs766305306 GRCh37 Chromosome 10, 31809839: 31809839

Expression for Corneal Dystrophy

Search GEO for disease gene expression data for Corneal Dystrophy.

Pathways for Corneal Dystrophy

GO Terms for Corneal Dystrophy

Cellular components related to Corneal Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 basement membrane GO:0005604 8.8 COL17A1 COL8A2 TGFBI

Biological processes related to Corneal Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.02 CYP4V2 KRT12 TACSTD2 TGFBI VSX1

Molecular functions related to Corneal Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.26 OVOL2 TCF4 VSX1 ZEB1
2 extracellular matrix binding GO:0050840 8.62 DCN TGFBI

Sources for Corneal Dystrophy

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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