MCID: CRN025
MIFTS: 49

Corneal Dystrophy

Categories: Eye diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Corneal Dystrophy

MalaCards integrated aliases for Corneal Dystrophy:

Name: Corneal Dystrophy 12 74 58 29 54 6 15 71

Characteristics:

Orphanet epidemiological data:

58
corneal dystrophy
Inheritance: Autosomal dominant,Autosomal recessive,Mitochondrial inheritance,Not applicable,X-linked recessive; Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:2566
ICD9CM 34 371.5
MeSH 43 D003317
SNOMED-CT 67 5587004 77797009
ICD10 32 H18.5
MESH via Orphanet 44 D003317
ICD10 via Orphanet 33 H18.5
UMLS via Orphanet 72 C0010035 C0010036
Orphanet 58 ORPHA34533
UMLS 71 C0010035 C0010036

Summaries for Corneal Dystrophy

MalaCards based summary : Corneal Dystrophy is related to corneal dystrophy, avellino type and corneal dystrophy, thiel-behnke type. An important gene associated with Corneal Dystrophy is ZEB1 (Zinc Finger E-Box Binding Homeobox 1). The drugs Acetylcysteine and Cysteine have been mentioned in the context of this disorder. Affiliated tissues include endothelial, eye and skin, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 74 Corneal dystrophy is a group of rare hereditary disorders characterised by bilateral abnormal deposition... more...

Related Diseases for Corneal Dystrophy

Diseases in the Corneal Dystrophy family:

Posterior Corneal Dystrophy

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

(show top 50) (show all 264)
# Related Disease Score Top Affiliating Genes
1 corneal dystrophy, avellino type 35.4 TGFBI KRT3 KRT12 COL8A2 CHST6
2 corneal dystrophy, thiel-behnke type 35.3 UBIAD1 TGFBI TACSTD2 KRT3 KRT12 COL8A2
3 corneal dystrophy, groenouw type i 35.3 UBIAD1 TGFBI KRT12 CHST6
4 corneal dystrophy, reis-bucklers type 35.3 UBIAD1 TGFBI TACSTD2 KRT3 KRT12 CHST6
5 corneal dystrophy, meesmann, 1 35.3 UBIAD1 TGFBI KRT3 KRT12 COL8A2 CHST6
6 schnyder corneal dystrophy 35.3 UBIAD1 KRT3 KRT12
7 corneal dystrophy, gelatinous drop-like 35.2 UBIAD1 TGFBI TACSTD2 KRT3 KRT12 GSN
8 corneal dystrophy and perceptive deafness 35.2 VSX1 SLC4A11 COL8A2
9 corneal dystrophy, fleck 35.2 SLC4A11 PIKFYVE COL8A2
10 corneal dystrophy, lattice type i 35.1 TGFBI GSN
11 corneal dystrophy, posterior polymorphous, 2 35.0 ZEB1 VSX1 SLC4A11 OVOL2 COL8A2
12 granular corneal dystrophy 34.9 UBIAD1 TGFBI SLC4A11 KRT3 KRT12 COL8A2
13 corneal dystrophy, posterior polymorphous, 1 34.9 ZEB1 VSX1 UBIAD1 TGFBI SLC4A11 OVOL2
14 corneal dystrophy, posterior polymorphous, 3 34.9 ZEB1 VSX1 UBIAD1 SLC4A11 OVOL2 GRHL2
15 macular dystrophy, corneal 34.9 UBIAD1 TGFBI SLC4A11 KRT3 KRT12 DCN
16 corneal dystrophy, endothelial, x-linked 34.9 VSX1 SLC4A11 COL8A2
17 corneal dystrophy, fuchs endothelial, 3 34.8 TCF4 MBNL1
18 corneal dystrophy, lisch epithelial 34.8 UBIAD1 KRT3 KRT12 CHST6
19 lattice corneal dystrophy 34.8 TGFBI TACSTD2 KRT12 GSN CHST6
20 stromal corneal dystrophy 34.6 UBIAD1 TGFBI PIKFYVE DCN
21 posterior corneal dystrophy 34.5 ZEB1 GRHL2 COL8A2
22 fuchs' endothelial dystrophy 34.5 ZEB1 VSX1 TGFBI TCF4 SLC4A11 MBNL1
23 corneal endothelial dystrophy 34.1 ZEB1 VSX1 UBIAD1 TGFBI SLC4A11 OVOL2
24 epithelial basement membrane dystrophy 34.0 TGFBI COL8A2 CHST6
25 corneal dystrophy, band-shaped 33.9 SLC4A11 COL8A2
26 tyrosinemia, type ii 33.6 KRT3 KRT12 CHST6
27 stromal dystrophy 33.0 UBIAD1 TGFBI SLC4A11 PIKFYVE KRT3 KRT12
28 epithelial-stromal tgfbi dystrophy 33.0 TGFBI KRT3 KRT12 GSN COL8A2 CHST6
29 epithelial and subepithelial dystrophy 32.4 UBIAD1 TGFBI TACSTD2 SLC4A11 KRT3 KRT12
30 corneal edema 31.7 ZEB1 VSX1 SLC4A11 OVOL2 KRT3 GRHL2
31 keratoconus 31.6 VSX1 TGFBI SLC4A11 KRT3 KRT12 GSN
32 corneal disease 31.4 ZEB1 VSX1 UBIAD1 TGFBI TACSTD2 SLC4A11
33 irregular astigmatism 31.4 VSX1 TGFBI SLC4A11 KRT3 KRT12 COL8A2
34 recurrent corneal erosion 31.3 TGFBI KRT3 KRT12 COL8A2 CHST6
35 corneal deposit 31.0 UBIAD1 TGFBI KRT3 KRT12 CYP4V2 CHST6
36 corneal degeneration 30.9 VSX1 UBIAD1 TGFBI SLC4A11 KRT3 KRT12
37 interstitial keratitis 30.8 TGFBI DCN COL8A2
38 corneal ectasia 30.7 VSX1 KRT3 COL8A2
39 blepharochalasis 30.6 GSN COL8A2
40 secondary corneal edema 30.3 SLC4A11 COL8A2
41 corneal dystrophy, epithelial basement membrane 12.9
42 corneal dystrophy, congenital stromal 12.9
43 corneal dystrophy, lattice type iiia 12.8
44 corneal dystrophy, fuchs endothelial, 6 12.7
45 corneal dystrophy, fuchs endothelial, 4 12.7
46 corneal dystrophy, fuchs endothelial, 1 12.7
47 corneal dystrophy, meesmann, 2 12.7
48 lattice corneal dystrophy type ii 12.7
49 corneal dystrophy, posterior polymorphous, 4 12.7
50 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia 12.7

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



Diseases related to Corneal Dystrophy

Symptoms & Phenotypes for Corneal Dystrophy

GenomeRNAi Phenotypes related to Corneal Dystrophy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.96 GSN
2 Decreased viability GR00055-A-2 9.96 GSN
3 Decreased viability GR00055-A-3 9.96 GSN
4 Decreased viability GR00249-S 9.96 CYP4V2 DCN PIKFYVE TACSTD2 TGFBI
5 Decreased viability GR00381-A-1 9.96 GRHL2 OVOL2
6 Decreased viability GR00386-A-1 9.96 AGBL1 MBNL1 SLC4A11 ZEB1
7 Decreased viability GR00402-S-2 9.96 COL8A1 CYP4V2 KRT3 OVOL2 TGFBI UBIAD1
8 Increased the percentage of infected cells GR00402-S-1 8.32 CYP4V2

MGI Mouse Phenotypes related to Corneal Dystrophy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.47 CHST6 COL8A1 COL8A2 CYP4V2 DCN GRHL2

Drugs & Therapeutics for Corneal Dystrophy

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

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
2
Cysteine Approved, Nutraceutical Phase 2 52-90-4 5862
3 Pharmaceutical Solutions Phase 2
4 Lubricant Eye Drops Phase 2
5 Respiratory System Agents Phase 2
6 Anti-Infective Agents Phase 2
7 Antidotes Phase 2
8 Expectorants Phase 2
9 Antioxidants Phase 2
10 Antiviral Agents Phase 2
11 Protective Agents Phase 2
12 N-monoacetylcystine Phase 2
13
Hyaluronic acid Approved, Vet_approved 9004-61-9 53477741
14 Ophthalmic Solutions

Interventional clinical trials:

(show all 32)
# Name Status NCT ID Phase Drugs
1 Prospective Randomized Study to Determine Whether Use of Rhopressa™ Can Ameliorate Corneal Edema Associated With Fuchs Dystrophy Recruiting NCT04051463 Phase 2, Phase 3 Netarsudil Ophthalmic Solution;Placebo
2 A Double-Masked, Randomised, Placebo-Controlled, Parallel-Group, 12 Week, Phase 2 Study to Investigate the Safety and Efficacy of K-321 Eye Drops After Descemetorhexis in Patients With Fuchs Endothelial Corneal Dystrophy Recruiting NCT04250207 Phase 2 K-321 Solution;Placebo Solution
3 A Phase II, Interventional, Double-blind, Single-center Study of the Effects of Ripasudil on Cornea Clearing After Descemet Membrane Endothelial Keratoplasty in Subjects With Fuchs' Endothelial Corneal Dystrophy Recruiting NCT03813056 Phase 2 Glanatec;Optive, Ophthalmic Solution
4 Assessment of Corneal Endothelial Function Following Hypoxic Stress Recruiting NCT04175938 Phase 1, Phase 2
5 Prospective Single-centre Randomized Observer-blind Placebo-controlled Parallel-group Phase IIa Clinical Trial to Investigate the Safety and Efficacy of Ripasudil 0.4% Eye Drops After Descemetorhexis in Patients With Moderate to Advanced Fuchs Endothelial Corneal Dystrophy (FECD) Recruiting NCT03575130 Phase 2 Ripasudil eye drops;Optive eye drops
6 Targeting Reactive Oxygen Species Production as a Novel Therapeutic in Fuch's Endothelial Corneal Dystrophy Not yet recruiting NCT04440280 Phase 2 N-acetyl cysteine (NAC) 10% solution;N-acetyl cysteine (NAC) 20% solution;Visine Dry Eye Relief eye drops
7 Prospective Clinical Study on Postoperative Outcome After Descemet Membrane Endothelial Keratoplasty (DMEK) and Ultra-thin Descemet Stripping Automated Endothelial Keratoplasty (DSAEK) Unknown status NCT02020044
8 Cross-Sectional Study of the Prevalence of TGFBI Corneal Dystrophies Unknown status NCT02746055
9 Corneal Endothelium Morphology and Central Thickness in Type II Diabetes Mellitus and Normal Subjects Unknown status NCT01084850
10 In Vitro and Clinical Comparison of Corneal Grafts Cultured in Serum Free Medium or Standard Serum Supplemented Medium in Patients With Degeneration of the Corneal Endothelium Unknown status NCT00623584
11 Corneal Transplantation Guided by OCT RESCAN: Pre-op, Intra-op and Post-op Evaluation Unknown status NCT02736877
12 Early Experience With Descemet's Stripping Automated Endothelial Keratoplasty (DSAEK) in Patients With Corneal Endothelial Cell Dysfunction: Clinical Outcomes and Diagnostic Imaging Analysis Unknown status NCT00744796
13 Autologous Adipose-Derived Adult Stem Cell Transplantation for Corneal Diseases Unknown status NCT02932852 Early Phase 1
14 Combined Cataract Surgery and Planned Descemetorhexis Completed NCT02206594
15 The Molecular Pathogenesis of Late-onset Fuchs' Endothelial Corneal Dystrophy Completed NCT01795001
16 Optimizing the Ocular Surface Prior to Cataract Surgery Completed NCT02766907
17 Clinical and Molecular Studies in Families With Corneal Dystrophy or Other Inherited Corneal Diseases Completed NCT00357435
18 Comparative Long-term Results After DSAEK, UT-DSAEK and DMEK for Fuchs Endothelial Corneal Dystophy and Moderated Pseudophakic Bullous Keratopathy Completed NCT04424550
19 Corneal Transplantation by DMEK - is it Really Better Than DSAEK? Completed NCT02793310
20 Clinical Efficacy of the Pinhole Soft Contact Lenses for Correcting Presbyopia Completed NCT02612584
21 Open-enrollment, Prospective Study of Endothelial Keratoplasty Outcomes Completed NCT00800111
22 Femtosecond Laser-assisted Anterior Lamellar Keratoplasty Completed NCT02301598
23 Fuchs' Endothelial Dystrophy: Clinical Characteristics, Treatment Outcome, and Pathology Completed NCT01979250
24 Efficacy of Hyperosmolar Eye Drops in Diurnal Corneal Edema in Fuchs Endothelial Dystrophy: a Double Blind Randomized Controlled Trial Recruiting NCT04140422
25 Analysis of the Genotype/Phenotype Relationship in the Fuchs' Corneal Endothelial Dystrophy in France. The French Fuchs' Follow-up Study, F3S Recruiting NCT03974230
26 The Postoperative Head Position as a Predictor of the Surgical Outcome After DMEK Recruiting NCT04387331
27 Assessment of Corneal Graft Attachment in Patients With Fuchs Endothelial Corneal Dystrophy Following Descemet's Membrane Endothelial Keratoplasty Using Ultra-high Resolution Optical Coherence Tomography Recruiting NCT02542644
28 Correlation Between In-vivo Anatomy of Corneal Dystrophies as Assessed by High- Resolution Optical Coherence Tomography (OCT) Measurement and Histological Examination - A Pilot Study Recruiting NCT03461991
29 Optical Coherence Tomography Guided Transepithelial Phototherapeutic Keratectomy Recruiting NCT01243931 OCT-guided laser phototherapeutic keratectomy
30 Evaluation of the Efficacy of Descemet Membrane Transplantation for the Treatment of Fuchs' Endothelial Dystrophy Recruiting NCT03275896 Early Phase 1
31 An Open-label, Pilot Study to Assess the Safety, Tolerability and Preliminary Efficacy of EDTA Eye Drops on Band Keratopathy Not yet recruiting NCT03985371 Early Phase 1 EDTA Eye Drops
32 Cacicol20® in Corneal Wound Healing and Nerve Regeneration After Phototherapeutic Keratectomy of the Anterior Cornea: A Randomized Double-Blinded Placebo-Controlled Study Terminated NCT02373397

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:

40
Endothelial, Eye, Skin, Testes, Retina, Bone, Cerebellum

Publications for Corneal Dystrophy

Articles related to Corneal Dystrophy:

(show top 50) (show all 2222)
# Title Authors PMID Year
1
Detection of the most common corneal dystrophies caused by BIGH3 gene point mutations using a multispot gold-capped nanoparticle array chip. 61 54
20092310 2010
2
R555W mutation of TGFbetaI related to granular corneal dystrophy in Chinese patients. 61 54
19951597 2009
3
Clinical and genetic profile of Avellino corneal dystrophy in 2 families from north India. 61 54
19822856 2009
4
Exclusion of known corneal dystrophy genes in an autosomal dominant pedigree of a unique anterior membrane corneal dystrophy. 54 61
19710953 2009
5
Corneal dystrophy-associated R124H mutation disrupts TGFBI interaction with Periostin and causes mislocalization to the lysosome. 61 54
19478074 2009
6
Update on phototherapeutic keratectomy. 61 54
19381088 2009
7
[Analysis of TGFBI gene mutation in a Chinese family with atypical Reis-Buckler corneal dystrophy]. 61 54
19504432 2009
8
Arg124Cys mutation of the TGFBI gene in 2 Chinese families with Thiel-Behnke corneal dystrophy. 54 61
19433713 2009
9
Double mutation (R124H, N544S) of TGFBI in two sisters with combined expression of Avellino and lattice corneal dystrophies. 54 61
19461933 2009
10
Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients. 61 54
18464802 2009
11
[TGFBI gene mutations in three Chinese families with autosomal dominant corneal dystrophy]. 54 61
19350511 2009
12
Corneal dystrophies. 61 54
19236704 2009
13
Reduced penetrance in familial Avellino corneal dystrophy associated with TGFBI mutations. 61 54
19145249 2009
14
A corneal dystrophy associated with transforming growth factor beta-induced Gly623Asp mutation an amyloidogenic phenotype. 61 54
19019446 2009
15
An atypical phenotype of Reis-Bücklers corneal dystrophy caused by the G623D mutation in TGFBI. 61 54
18636123 2008
16
An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families. 61 54
18615206 2008
17
A novel mutation in the cornea-specific keratin 12 gene in Meesmann corneal dystrophy. 61 54
18661274 2008
18
A novel variant of combined granular-lattice corneal dystrophy associated with the Met619Lys mutation in the TGFBI gene. 61 54
18332318 2008
19
[Analysis of mutation in KRT12 gene in a Chinese family with Meesmann's corneal dystrophy]. 54 61
18201524 2007
20
A missense mutation in the M1S1 gene found in a turkish patient with gelatinous droplike corneal dystrophy. 61 54
17721311 2007
21
[TGFBI gene mutation analysis in a Chinese family with Thiel-Behnke corneal dystrophy]. 54 61
18001570 2007
22
R124C and R555W TGFBI mutations in Spanish families with autosomal-dominant corneal dystrophies. 54 61
17768377 2007
23
A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy. 61 54
17653038 2007
24
TGFBI gene mutations in Brazilian patients with corneal dystrophy. 61 54
16440005 2007
25
A clinical and histopathologic examination of accelerated TGFBIp deposition after LASIK in combined granular-lattice corneal dystrophy. 61 54
17317389 2007
26
In vivo laser confocal microscopy findings for Bowman's layer dystrophies (Thiel-Behnke and Reis-Bücklers corneal dystrophies). 61 54
17198850 2007
27
Allelic homogeneity in Avellino corneal dystrophy due to a founder effect. 61 54
17096061 2007
28
[Molecular genetic and histopathological examinations for genotype-phenotype analysis in patients with TGFBI-linked corneal dystrophy]. 61 54
17063427 2006
29
No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy. 54 61
16936088 2006
30
[A research on TGFBI gene mutations in Chinese families with corneal dystrophies]. 61 54
16767671 2006
31
Systemic investigation of keratoepithelin deposits in TGFBI/BIGH3-related corneal dystrophy. 61 54
16710170 2006
32
Expanding the mutational spectrum in TGFBI-linked corneal dystrophies: Identification of a novel and unusual mutation (Val113Ile) in a family with granular dystrophy. 61 54
16636649 2006
33
Immunohistochemistry and electron microscopy of early-onset fuchs corneal dystrophy in three cases with the same L450W COL8A2 mutation. 54 61
17471329 2006
34
Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene. 61 54
16352477 2005
35
Fuchs corneal dystrophy: aberrant collagen distribution in an L450W mutant of the COL8A2 gene. 54 61
16303941 2005
36
Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy. 61 54
16227835 2005
37
A unique corneal dystrophy of Bowman's layer and stroma associated with the Gly623Asp mutation in the transforming growth factor beta-induced (TGFBI) gene. 54 61
15885785 2005
38
Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of fuchs corneal dystrophy. 61 54
15914606 2005
39
No pathogenic mutations identified in the COL8A2 gene or four positional candidate genes in patients with posterior polymorphous corneal dystrophy. 54 61
15851557 2005
40
[Analysis of gene mutation in Chinese patients with Reis-Bücklers corneal dystrophy]. 61 54
15840366 2005
41
TGFBI gene mutation analysis in families with hereditary corneal dystrophies from Ukraine. 61 54
15564760 2004
42
[Phototherapeutic keratectomy in the treatment of lattice corneal dystrophy type I]. 54 61
15499271 2004
43
Analysis of human transforming growth factor beta-induced gene mutation in corneal dystrophy. 54 61
15377440 2004
44
BIGH3 mutation in a Bangladeshi family with a variable phenotype of LCDI. 54 61
15017378 2004
45
Anterior basement membrane corneal dystrophy and pseudo-unilateral lattice corneal dystrophy in a patient with recurrent corneal erosions. 54 61
15183802 2004
46
A novel arginine substitution mutation in 1A domain and a novel 27 bp insertion mutation in 2B domain of keratin 12 gene associated with Meesmann's corneal dystrophy. 61 54
15148206 2004
47
Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy. 54 61
15175909 2004
48
Compound heterozygous mutations of M1S1 gene in gelatinous droplike corneal dystrophy. 61 54
15013888 2004
49
[Identification of BIGH3 gene mutations in the patients with two types of corneal dystrophies]. 61 54
14767905 2004
50
Mutation analysis of the TGFBI gene in Vietnamese with granular and Avellino corneal dystrophy. 61 54
14767644 2004

Variations for Corneal Dystrophy

ClinVar genetic disease variations for Corneal Dystrophy:

6 (show top 50) (show all 299) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ZEB1 NM_030751.6(ZEB1):c.1576dup (p.Val526fs)duplication Pathogenic 437319 rs766305306 10:31809832-31809833 10:31520904-31520905
2 GRHL2 NM_024915.4(GRHL2):c.20+133deldeletion Pathogenic/Likely pathogenic 489405 rs1554579819 8:102505150-102505150 8:101492922-101492922
3 GRHL2 NM_024915.4(GRHL2):c.20+544G>TSNV Pathogenic/Likely pathogenic 489403 rs1554579878 8:102505561-102505561 8:101493333-101493333
4 GRHL2 NM_024915.4(GRHL2):c.20+257deldeletion Likely pathogenic 489404 rs1554579832 8:102505273-102505273 8:101493045-101493045
5 TGFBI NM_000358.3(TGFBI):c.1501C>A (p.Pro501Thr)SNV Likely pathogenic 7871 rs121909212 5:135391459-135391459 5:136055770-136055770
6 CYP4V2 NM_207352.4(CYP4V2):c.*2166C>GSNV Conflicting interpretations of pathogenicity 899863 4:187133961-187133961 4:186212807-186212807
7 SLC4A11 NM_001174089.2(SLC4A11):c.1779C>T (p.Ser593=)SNV Conflicting interpretations of pathogenicity 729214 20:3210062-3210062 20:3229416-3229416
8 SLC4A11 NM_001174089.2(SLC4A11):c.789C>T (p.Ile263=)SNV Conflicting interpretations of pathogenicity 729476 20:3212135-3212135 20:3231489-3231489
9 SLC4A11 NM_001174089.2(SLC4A11):c.1131C>T (p.Phe377=)SNV Conflicting interpretations of pathogenicity 788622 20:3211616-3211616 20:3230970-3230970
10 SLC4A11 NM_001174089.2(SLC4A11):c.426C>T (p.Arg142=)SNV Conflicting interpretations of pathogenicity 786674 20:3214826-3214826 20:3234180-3234180
11 TGFBI NM_000358.3(TGFBI):c.1504A>G (p.Met502Val)SNV Conflicting interpretations of pathogenicity 713967 5:135391462-135391462 5:136055773-136055773
12 SLC4A11 NM_001174089.2(SLC4A11):c.992G>A (p.Arg331Gln)SNV Conflicting interpretations of pathogenicity 709514 20:3211845-3211845 20:3231199-3231199
13 SLC4A11 NM_001174089.2(SLC4A11):c.2061C>T (p.Leu687=)SNV Conflicting interpretations of pathogenicity 728904 20:3209615-3209615 20:3228969-3228969
14 CYP4V2 NM_207352.4(CYP4V2):c.610G>A (p.Ala204Thr)SNV Conflicting interpretations of pathogenicity 493404 rs61745524 4:187118692-187118692 4:186197538-186197538
15 CYP4V2 NM_207352.4(CYP4V2):c.1328G>A (p.Arg443Gln)SNV Conflicting interpretations of pathogenicity 497287 rs72646291 4:187130349-187130349 4:186209195-186209195
16 SLC4A11 NM_001174089.2(SLC4A11):c.2496G>A (p.Met832Ile)SNV Conflicting interpretations of pathogenicity 769067 20:3208967-3208967 20:3228321-3228321
17 SLC4A11 NM_001174089.2(SLC4A11):c.1722C>G (p.Thr574=)SNV Conflicting interpretations of pathogenicity 778876 20:3210190-3210190 20:3229544-3229544
18 CYP4V2 NM_207352.4(CYP4V2):c.99G>A (p.Leu33=)SNV Conflicting interpretations of pathogenicity 782095 4:187113076-187113076 4:186191922-186191922
19 TGFBI NM_000358.3(TGFBI):c.852C>A (p.Ala284=)SNV Conflicting interpretations of pathogenicity 746359 5:135385208-135385208 5:136049519-136049519
20 TGFBI NM_000358.3(TGFBI):c.1439C>T (p.Ala480Val)SNV Conflicting interpretations of pathogenicity 742763 5:135391397-135391397 5:136055708-136055708
21 SLC4A11 NM_001174089.2(SLC4A11):c.1959C>A (p.Ser653=)SNV Conflicting interpretations of pathogenicity 747946 20:3209800-3209800 20:3229154-3229154
22 SLC4A11 NM_001174089.2(SLC4A11):c.1020G>A (p.Leu340=)SNV Conflicting interpretations of pathogenicity 739183 20:3211817-3211817 20:3231171-3231171
23 SLC4A11 NM_001174089.2(SLC4A11):c.903G>A (p.Thr301=)SNV Conflicting interpretations of pathogenicity 738272 20:3212021-3212021 20:3231375-3231375
24 SLC4A11 NM_001174089.2(SLC4A11):c.2388+7G>ASNV Conflicting interpretations of pathogenicity 743250 20:3209151-3209151 20:3228505-3228505
25 SLC4A11 NM_001174089.2(SLC4A11):c.1704G>A (p.Thr568=)SNV Conflicting interpretations of pathogenicity 763833 20:3210208-3210208 20:3229562-3229562
26 SLC4A11 NM_001174089.2(SLC4A11):c.1700G>A (p.Gly567Asp)SNV Conflicting interpretations of pathogenicity 760889 20:3210212-3210212 20:3229566-3229566
27 SLC4A11 NM_001174089.2(SLC4A11):c.1368G>A (p.Ala456=)SNV Conflicting interpretations of pathogenicity 757358 20:3211208-3211208 20:3230562-3230562
28 CYP4V2 NM_207352.4(CYP4V2):c.*1474G>TSNV Conflicting interpretations of pathogenicity 903414 4:187133269-187133269 4:186212115-186212115
29 SLC4A11 NM_001174089.2(SLC4A11):c.1043-10C>TSNV Conflicting interpretations of pathogenicity 782168 20:3211714-3211714 20:3231068-3231068
30 TGFBI NM_000358.3(TGFBI):c.1167C>T (p.Ser389=)SNV Conflicting interpretations of pathogenicity 799398 5:135389672-135389672 5:136053983-136053983
31 SLC4A11 NM_001174089.2(SLC4A11):c.44-73C>TSNV Conflicting interpretations of pathogenicity 793245 20:3218307-3218307 20:3237661-3237661
32 CYP4V2 NM_207352.4(CYP4V2):c.*4T>CSNV Conflicting interpretations of pathogenicity 166980 rs76978024 4:187131799-187131799 4:186210645-186210645
33 CYP4V2 NM_207352.4(CYP4V2):c.1446G>A (p.Ser482=)SNV Conflicting interpretations of pathogenicity 193951 rs141950964 4:187131663-187131663 4:186210509-186210509
34 CYP4V2 NM_207352.4(CYP4V2):c.1338C>G (p.Pro446=)SNV Conflicting interpretations of pathogenicity 348312 rs35524919 4:187130359-187130359 4:186209205-186209205
35 CYP4V2 NM_207352.4(CYP4V2):c.*1027C>TSNV Conflicting interpretations of pathogenicity 348333 rs541778964 4:187132822-187132822 4:186211668-186211668
36 TGFBI NM_000358.3(TGFBI):c.968C>T (p.Ala323Val)SNV Conflicting interpretations of pathogenicity 350878 rs201210696 5:135388650-135388650 5:136052961-136052961
37 CYP4V2 NM_207352.4(CYP4V2):c.24C>T (p.Leu8=)SNV Conflicting interpretations of pathogenicity 348296 rs202148693 4:187113001-187113001 4:186191847-186191847
38 CYP4V2 NM_207352.4(CYP4V2):c.*1737A>GSNV Conflicting interpretations of pathogenicity 348355 rs78965616 4:187133532-187133532 4:186212378-186212378
39 SLC4A11 NM_001174089.2(SLC4A11):c.2193G>C (p.Thr731=)SNV Conflicting interpretations of pathogenicity 338238 rs149912717 20:3209353-3209353 20:3228707-3228707
40 SLC4A11 NM_001174089.2(SLC4A11):c.2058C>G (p.Leu686=)SNV Conflicting interpretations of pathogenicity 338240 rs141079217 20:3209618-3209618 20:3228972-3228972
41 SLC4A11 NM_001174089.2(SLC4A11):c.1419G>A (p.Ser473=)SNV Conflicting interpretations of pathogenicity 338247 rs149866580 20:3210903-3210903 20:3230257-3230257
42 SLC4A11 NM_001174089.2(SLC4A11):c.765G>A (p.Thr255=)SNV Conflicting interpretations of pathogenicity 338252 rs78860240 20:3212159-3212159 20:3231513-3231513
43 SLC4A11 NM_001174089.2(SLC4A11):c.1572C>T (p.Leu524=)SNV Conflicting interpretations of pathogenicity 338245 rs201595005 20:3210340-3210340 20:3229694-3229694
44 SLC4A11 NM_001174089.2(SLC4A11):c.523+9G>ASNV Conflicting interpretations of pathogenicity 338255 rs200962876 20:3214720-3214720 20:3234074-3234074
45 SLC4A11 NM_001174089.2(SLC4A11):c.2226G>A (p.Ser742=)SNV Conflicting interpretations of pathogenicity 338237 rs200879869 20:3209320-3209320 20:3228674-3228674
46 SLC4A11 NM_001174089.2(SLC4A11):c.2391T>G (p.Thr797=)SNV Conflicting interpretations of pathogenicity 338234 rs7262506 20:3209072-3209072 20:3228426-3228426
47 SLC4A11 NM_001174089.2(SLC4A11):c.1489+8C>TSNV Conflicting interpretations of pathogenicity 338246 rs760670114 20:3210825-3210825 20:3230179-3230179
48 SLC4A11 NM_001174089.2(SLC4A11):c.1167C>T (p.Ile389=)SNV Conflicting interpretations of pathogenicity 338248 rs78274653 20:3211580-3211580 20:3230934-3230934
49 SLC4A11 NM_001174089.2(SLC4A11):c.991C>T (p.Arg331Trp)SNV Conflicting interpretations of pathogenicity 338250 rs138137682 20:3211846-3211846 20:3231200-3231200
50 SLC4A11 NM_001174089.2(SLC4A11):c.893C>T (p.Ala298Val)SNV Conflicting interpretations of pathogenicity 338251 rs141705330 20:3212031-3212031 20:3231385-3231385

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 collagen-containing extracellular matrix GO:0062023 9.46 TGFBI DCN COL8A2 COL8A1
2 extracellular matrix GO:0031012 9.26 TGFBI DCN COL8A2 COL8A1
3 basement membrane GO:0005604 8.8 TGFBI COL8A2 COL8A1

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

# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.46 TGFBI OVOL2 COL8A2 COL8A1
2 camera-type eye morphogenesis GO:0048593 9.32 COL8A2 COL8A1
3 epithelial cell proliferation GO:0050673 9.26 COL8A2 COL8A1
4 extracellular matrix organization GO:0030198 9.26 TGFBI DCN COL8A2 COL8A1
5 visual perception GO:0007601 9.02 VSX1 TGFBI TACSTD2 KRT12 CYP4V2

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.13 TGFBI COL8A2 COL8A1
2 chromatin binding GO:0003682 9.02 ZEB1 VSX1 TCF4 OVOL2 GRHL2

Sources for Corneal Dystrophy

3 CDC
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