MCID: FCH001
MIFTS: 52

Fuchs' Endothelial Dystrophy malady

Genetic diseases (common), Eye diseases categories

Summaries for Fuchs' Endothelial Dystrophy

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22Genetics Home Reference, 66Wikipedia, 48OMIM, 34MalaCards
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Genetics Home Reference:22 Fuchs endothelial dystrophy is a condition that causes vision problems. The first symptom of this condition is typically blurred vision in the morning that usually clears during the day. Over time, affected individuals lose the ability to see details (visual acuity). People with Fuchs endothelial dystrophy also become sensitive to bright lights.

MalaCards: Fuchs' Endothelial Dystrophy, also known as fuchs endothelial dystrophy, is related to keratoconus and posterior polymorphous corneal dystrophy. An important gene associated with Fuchs' Endothelial Dystrophy is COL8A2 (collagen, type VIII, alpha 2), and among its related pathways are 14-3-3 and Regulation of BAD Activity and Apoptosis and survival Regulation of Apoptosis by Mitochondrial Proteins. The compounds mim1 and at 101 have been mentioned in the context of this disorder. Affiliated tissues include endothelial and eye, and related mouse phenotypes are hearing/vestibular/ear and respiratory system.

Wikipedia:66 \'Fuchs\' dystrophy (pronounced fooks-DIS-tr?-fe) also known as Fuchs\' corneal endothelial dystrophy\'... more...

Description from OMIM:48 613268,136800,613270

Aliases & Classifications for Fuchs' Endothelial Dystrophy

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Sources:
9Disease Ontology, 22Genetics Home Reference, 21GeneTests, 11DISEASES, 63UMLS, 46Novoseek, 48OMIM, 36MeSH, 41NCIt, 59SNOMED-CT
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Eye diseases


Aliases & Descriptions:

fuchs' endothelial dystrophy 9 22
fuchs endothelial dystrophy 22 11 63
fuch's endothelial corneal dystrophy 9 21
fuchs dystrophy 22 46
corneal dystrophy, fuchs' endothelial, 1 63
corneal dystrophy, fuchs endothelial 46
fuchs endothelial corneal dystrophy 22
fuch's endothelial dystrophy 9
fuchs' corneal dystrophy 9
fuchs corneal dystrophy 22
fuchs atrophy 22


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Disease Ontology9 DOID:11555
MeSH36 D005642
NCIt41 C84721

Related Diseases for Fuchs' Endothelial Dystrophy

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Fuchs' Endothelial Dystrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 41)
idRelated DiseaseScoreTop Affiliating Genes
1keratoconus30.8TGFBI, COL8A2, VSX1
2posterior polymorphous corneal dystrophy30.7COL8A2, VSX1
3corneal dystrophy30.7TGFBI, COL8A2, COL8A1, VSX1
4endotheliitis11.1
5cataract10.5
6corneal dystrophy, fuchs endothelial, 510.5
7corneal dystrophy, fuchs endothelial, 710.5
8corneal dystrophy, fuchs endothelial, 610.5
9corneal dystrophy, fuchs endothelial, 310.5
10corneal dystrophy, fuchs endothelial, 410.5
11bullous keratopathy10.5
12keratopathy10.5
13ocular hypertension10.4
14eye disease10.4
15glaucoma10.4
16hypertension10.4
17myotonic dystrophy10.4
18corneal dystrophy, fuchs endothelial, 810.4
19blepharospasm10.2
20corneal edema10.2
21corneal dystrophy fuchs endothelial 110.2
22corneal dystrophy fuchs endothelial 210.2
23reticulosarcoma10.0CLU, BCL2
24non-small cell lung carcinoma10.0BCL2, PRDX5, BAX
25b-cell lymphomas10.0BAX, CLU, BCL2
26lung small cell carcinoma10.0BAX, PRDX5, BCL2
27cervical cancer10.0BAX, CLU, BCL2
28prostate cancer10.0CLU, BAX, BCL2
29lung adenocarcinoma10.0TGFBI, PRDX5, BCL2, BAX
30malignant glioma10.0BAX, PITX2, CLU, BCL2
31bladder carcinoma10.0CLU, BCL2, BAX
32endometrial carcinoma10.0BAX, TCF4, BCL2
33ovarian cancer9.9PRDX5, BAX, BCL2, CLU
34lung cancer9.9BAX, PRDX5, BCL2
35adenocarcinoma9.9BAX, PRDX6, CLU, TGFBI, BCL2
36tongue squamous cell carcinoma9.9CLU, BAX, BCL2, TCF4, PRDX2
37colon cancer9.9CLU, TCF4, PRDX5, BCL2, BAX
38hepatocellular carcinoma9.9BCL2, CLU, BAX, TCF4, PRDX5
39leukemia9.9BAX, BCL2, TCF4, PITX2, TGFBI
40colorectal cancer9.9TGFBI, CLU, TCF4, BCL2, BAX
41breast cancer9.9PITX2, CLU, PRDX2, BAX, BCL2, PRDX5

Graphical network of the top 20 diseases related to Fuchs' Endothelial Dystrophy:



Diseases related to fuchs' endothelial dystrophy

Symptoms for Fuchs' Endothelial Dystrophy

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Sources:
48OMIM
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Clinical features from OMIM:

613268,136800,613270

Drugs & Therapeutics for Fuchs' Endothelial Dystrophy

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Fuchs' Endothelial Dystrophy

Drug clinical trials:

Search ClinicalTrials for Fuchs' Endothelial Dystrophy

Search NIH Clinical Center for Fuchs' Endothelial Dystrophy

Search CenterWatch for Fuchs' Endothelial Dystrophy

Genetic Tests for Fuchs' Endothelial Dystrophy

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Sources:
21GeneTests
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Genetic tests related to Fuchs' Endothelial Dystrophy:

id Genetic test Affiliating Genes
1 Fuchs Endothelial Corneal Dystrophy21

Anatomical Context for Fuchs' Endothelial Dystrophy

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34MalaCards
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MalaCards organs/tissues related to Fuchs' Endothelial Dystrophy:

34
Endothelial, Eye

Animal Models for Fuchs' Endothelial Dystrophy or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Fuchs' Endothelial Dystrophy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.9TCF4, LOXHD1, BCL2, BAX
2MP:00053888.4PRDX6, BAX, BCL2, PRDX3, PITX2
3MP:00036318.3PITX2, VSX1, CLU, TCF4, BCL2, LOXHD1
4MP:00053978.3PITX2, TGFBI, TCF4, PRDX2, BCL2, BAX
5MP:00053918.1VSX1, BCL2, COL8A2, COL8A1, PRDX6, PITX2
6MP:00053767.6BCL2, PRDX6, PRDX2, CLU, TGFBI, BAX
7MP:00053877.5TCF4, PRDX2, PRDX3, CLU, TGFBI, PITX2
8MP:00053847.1BCL2, PITX2, TGFBI, TCF4, PRDX2, PRDX6

Publications for Fuchs' Endothelial Dystrophy

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53PubMed
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Articles related to Fuchs' Endothelial Dystrophy:

(show all 49)
idTitleAuthorsYear
1
Intraocular pressure and corneal biomechanics in Fuchs' endothelial dystrophy and after posterior lamellar keratoplasty. (23607620)
2013
2
Retained Descemet's membrane following penetrating keratoplasty for Fuchs' endothelial dystrophy: a case report of a post-operative complication. (23901260)
2013
3
Anterior corneal aberrations after Descemet's stripping endothelial keratoplasty for Fuchs' endothelial dystrophy. (22480739)
2012
4
Association of TCF4 and CLU polymorphisms with Fuchs' endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process. (22234156)
2012
5
Corneal haze in course of Fuchs' endothelial dystrophy. (23007820)
2012
6
In vivo confocal microscopy of combined pre-descemet membrane corneal dystrophy and fuchs endothelial dystrophy. (20847662)
2011
7
Persistent corneal edema after descemetorhexis without corneal graft implantation in a case of fuchs endothelial dystrophy. (21045656)
2011
8
Descemet's stripping with endothelial keratoplasty for special Fuchs' endothelial dystrophy in phakic eyes. (21212708)
2011
9
Approaching cataract surgery in patients with fuchs' endothelial dystrophy. (20057291)
2010
10
Combined anterior keratoconus and Fuchs' endothelial dystrophy: a report of two cases. (20597912)
2010
11
Fuchs' endothelial dystrophy in 830-nm spectral domain optical coherence tomography. (19320314)
2009
12
Descemet's stripping automated endothelial keratoplasty and penetrating keratoplasty for Fuchs' endothelial dystrophy. (19302079)
2009
13
Mutational analysis of VSX-1 in one patient with posterior polymorphous corneal dystrophy and in three families with hereditary Fuchs endothelial dystrophy]. (19507099)
2009
14
Increased clusterin expression in Fuchs' endothelial dystrophy. (18378577)
2008
15
Posterior mushroom keratoplasty in patients with Fuchs endothelial dystrophy and pseudophakic bullous keratopathy: transplant outcome. (18580259)
2008
16
Decreased expression of peroxiredoxins in Fuchs' endothelial dystrophy. (18378575)
2008
17
Simultaneous phacoemulsification and DSEK in patients with concomitant cataract and bullous keratopathy due to Fuchs endothelial dystrophy. (18812092)
2008
18
Effectiveness of the soft-shell technique in patients with Fuchs' endothelial dystrophy. (17964396)
2007
19
A novel PITX2 mutation and a polymorphism in a 5-generation family with Axenfeld-Rieger anomaly and coexisting Fuchs' endothelial dystrophy. (16876867)
2006
20
Epithelial metaplasia of the corneal endothelium in Fuchs endothelial dystrophy. (17102674)
2006
21
Exclusion of COL8A1, the gene encoding the alpha2(VIII) chain of type VIII collagen, as a candidate for Fuchs endothelial dystrophy and posterior polymorphous corneal dystrophy. (17057173)
2006
22
Potential complications of ocular surgery in patients with coexistent keratoconus and Fuchs' endothelial dystrophy. (16996603)
2006
23
Cataract extraction in eyes with Fuchs' endothelial dystrophy in China. (16098269)
2005
24
Laser in situ keratomileusis in patients with corneal guttata and family history of Fuchs' endothelial dystrophy. (16473218)
2005
25
Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy. (15175909)
2004
26
Corneal decompensation after laser in situ keratomileusis in fuchs' endothelial dystrophy. (12792486)
2003
27
Mechanisms of disease: Fuchs' endothelial dystrophy. (12064077)
2002
28
The role of apoptosis in the pathogenesis of Fuchs endothelial dystrophy of the cornea. (11709009)
2001
29
Fuchs' endothelial dystrophy: a fresh look at an aging disease. (10627840)
1999
30
Confocal microscopy in cornea guttata and Fuchs' endothelial dystrophy. (10396196)
1999
31
In vivo confocal microscopy of Fuchs' endothelial dystrophy. (9756443)
1998
32
Long-term results after penetrating keratoplasty for Fuchs' endothelial dystrophy. (8540845)
1996
33
Diagnosis of advanced Fuchs' endothelial dystrophy with the confocal microscope. (8238235)
1993
34
Blepharospasm and Fuchs' endothelial dystrophy. (8119439)
1993
35
Fuchs' endothelial dystrophy of the cornea. (8235998)
1993
36
Keratoconus and Fuchs' endothelial dystrophy. (1889226)
1991
37
Cataract formation following corneal transplantation in eyes with Fuchs' endothelial dystrophy. (2078957)
1990
38
Characterization of stroma from Fuchs' endothelial dystrophy corneas. (2785446)
1989
39
Moderate Fuchs' endothelial dystrophy ATPase pump site density. (2545644)
1989
40
Cytochrome oxidase activity of Fuchs' endothelial dystrophy. (3026733)
1986
41
Characterization of the Descemet's membrane/posterior collagenous layer isolated from Fuchs' endothelial dystrophy corneas. (6389163)
1984
42
Long term results of corneal grafting in Fuchs' endothelial dystrophy. (6380203)
1984
43
Is there an association between Fuchs' endothelial dystrophy and cardiovascular disease? (6333375)
1984
44
Nosocomial exacerbation of Fuchs' endothelial dystrophy. (6333183)
1984
45
On the significance of a low endothelial cell density in Fuchs' endothelial dystrophy. A specular microscopic study. (6967672)
1980
46
Bullous keratopathy (Fuchs' endothelial dystrophy) treated systemically with 4-trans-amino-cyclohexano-carboxylic acid. (302548)
1977
47
Inheritance of Fuchs' endothelial dystrophy. (5313141)
1971
48
Fate of successful corneal grafts in Fuchs' endothelial dystrophy. (4900890)
1969
49
THE FINE STRUCTURE OF THE CORNEA IN FUCHS' ENDOTHELIAL DYSTROPHY. (14121146)
1964

Variations for Fuchs' Endothelial Dystrophy

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Fuchs' Endothelial Dystrophy:

1
id Gene Name Type Significance SNP ID Assembly Location
1COL8A2NM_005202.3(COL8A2): c.1363C> A (p.Gln455Lys)single nucleotide variantPathogenicrs80358191GRCh37Chr 1, 36563919: 36563919
2COL8A2NM_005202.3(COL8A2): c.1349T> G (p.Leu450Trp)single nucleotide variantPathogenicrs80358192GRCh37Chr 1, 36563933: 36563933

Expression for genes affiliated with Fuchs' Endothelial Dystrophy

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Fuchs' Endothelial Dystrophy

Search GEO for disease gene expression data for Fuchs' Endothelial Dystrophy.

Pathways for genes affiliated with Fuchs' Endothelial Dystrophy

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Sources:
51PathCards, 54QIAGEN, 61Thomson Reuters, 56Reactome, 39NCBI BioSystems Database, 52PharmGKB
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Pathways related to Fuchs' Endothelial Dystrophy according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7BCL2, BAX
2
Show member pathways
9.7BAX, BCL2
3
Show member pathways
9.7BCL2, BAX
49.7BAX, BCL2
59.7BCL2, BAX
6
Show member pathways
9.7BAX, BCL2
79.7BCL2, BAX
89.5BCL2, PITX2, BAX
9
Show member pathways
8.6BAX, BCL2, COL8A2, COL8A1, TCF4
10
Show member pathways
thioredoxin pathway39
8.5PRDX3, PRDX5, PRDX2
118.5PRDX3, PRDX5, PRDX2
12
Show member pathways
8.1PRDX6, PRDX3, PRDX5, PRDX2
13
Show member pathways
8.1PRDX3, PRDX2, PRDX6, PRDX5

Compounds for genes affiliated with Fuchs' Endothelial Dystrophy

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Sources:
62Tocris Bioscience, 46Novoseek, 12DrugBank, 52PharmGKB, 3BitterDB, 25HMDB
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Compounds related to Fuchs' Endothelial Dystrophy according to GeneCards/GeneDecks:

(show top 50)    (show all 66)
idCompoundScoreTop Affiliating Genes
1mim16210.2BAX, BCL2
2at 1016210.1BCL2, BAX
3bax inhibitor peptide v56210.1BAX, BCL2
4bax channel blocker6210.1BAX, BCL2
5ha14-16210.1BCL2, BAX
6ponicidin4610.1BAX, BCL2
7tanshinone iia4610.1BCL2, BAX
8gambogic acid4610.1BCL2, BAX
9evodiamine4610.1BCL2, BAX
10ptpc4610.1BCL2, BAX
11bongkrekic acid4610.1BAX, BCL2
12oridonin4610.1BAX, BCL2
1310-hydroxycamptothecin4610.1BCL2, BAX
144,6-diamidino-2-phenylindole4610.1BAX, BCL2
15bufalin4610.1BCL2, BAX
16beta-lapachone4610.1BCL2, BAX
17ursolic acid4610.1BAX, BCL2
18ginsenoside4610.0BCL2, BAX
19sanguinarine4610.0BAX, BCL2
20exisulind4610.0BCL2, BAX
21pd 1693164610.0BAX, BCL2
22mononucleotide4610.0TCF4, BAX
23shikonin469.9BAX, BCL2
24gossypol469.9BCL2, BAX
25eb 108946 6210.9BAX, CLU, BCL2
26dutp469.9BCL2, BAX, CLU
27diallyl disulfide469.9BAX, BCL2
28chlorambucil46 1210.8BAX, BCL2
29camptothecin46 62 1211.7BCL2, CLU, BAX
30docetaxel46 52 62 1212.7BAX, BCL2, CLU
31olomoucine46 1210.7BAX, BCL2
32vitamin e succinate469.7BAX, BCL2
33agarose469.7BCL2, BAX, CLU
34phenethyl isothiocyanate3 4610.6BCL2, BAX
35hoechst 33342469.4BAX, BCL2
36sulforaphane469.3PRDX5, BAX, BCL2
37resveratrol46 62 25 1212.2BCL2, PRDX5, BAX
38adriamycin469.2BAX, BCL2, PRDX5
39dithiothreitol469.1PRDX2, PRDX6, PRDX5
40etoposide46 52 62 1212.0BAX, BCL2, PRDX5, CLU
41n acetylcysteine469.0CLU, BAX, BCL2, PRDX5
42curcumin469.0PRDX5, BAX, BCL2
43cisplatin46 52 62 1211.9BAX, CLU, BCL2, PRDX5
44glyceraldehyde 3-phosphate468.8PRDX5, CLU, PRDX2, PRDX6
45retinoic acid46 259.4CLU, PRDX2, PRDX5, BAX, BCL2
46cysteine468.3PRDX6, PRDX5, CLU, TGFBI, PITX2, PRDX2
47superoxide46 259.2PRDX3, CLU, PRDX2, PRDX6, PRDX5
48serine467.9PRDX2, PITX2, BCL2, PRDX5, PRDX6, CLU
49h2o2467.5PRDX5, BAX, BCL2, PRDX3, PRDX6, PRDX2
50oxygen46 258.5PRDX5, CLU, PRDX3, BCL2, BAX, PRDX6

GO Terms for genes affiliated with Fuchs' Endothelial Dystrophy

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17Gene Ontology
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Cellular components related to Fuchs' Endothelial Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1pore complexGO:0469309.7BCL2, BAX
2basement membraneGO:0056049.5COL8A2, TGFBI, COL8A1
3extracellular matrixGO:0310129.2COL8A2, COL8A1, CLU, TGFBI
4mitochondrionGO:0057397.7BAX, BCL2, PRDX3, PRDX5, CLU
5extracellular vesicular exosomeGO:0700627.6PRDX6, PRDX5, PRDX2, CLU, BAX, TGFBI
6cytosolGO:0058297.6BAX, BCL2, PRDX5, PRDX6, PRDX2, CLU

Biological processes related to Fuchs' Endothelial Dystrophy according to GeneCards/GeneDecks:

(show all 29)
idNameGO IDScoreTop Affiliating Genes
1regulation of nitrogen utilizationGO:00680810.1BCL2, BAX
2regulation of protein homodimerization activityGO:04349610.1BAX, BCL2
3regulation of protein heterodimerization activityGO:04349710.1BAX, BCL2
4endoplasmic reticulum calcium ion homeostasisGO:03246910.1BAX, BCL2
5response to acidGO:00110110.1BAX, BCL2
6epithelial cell proliferationGO:05067310.0COL8A2, COL8A1
7camera-type eye morphogenesisGO:04859310.0COL8A2, COL8A1
8negative regulation of apoptotic signaling pathwayGO:200123410.0BCL2, BAX
9B cell homeostasisGO:00178210.0BCL2, BAX
10cellular response to organic substanceGO:07131010.0BAX, BCL2
11homeostasis of number of cells within a tissueGO:0488739.9BCL2, BAX
12intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stressGO:0700599.9BCL2, BAX
13spleen developmentGO:0485369.9PITX2, BCL2
14response to gamma radiationGO:0103329.9BAX, BCL2
15release of cytochrome c from mitochondriaGO:0018369.8CLU, BAX, BCL2
16positive regulation of intrinsic apoptotic signaling pathwayGO:20012449.8CLU, BCL2, BAX
17intrinsic apoptotic signaling pathwayGO:0971939.8BAX, BCL2, CLU
18neuron apoptotic processGO:0514029.8BCL2, BAX
19extrinsic apoptotic signaling pathway via death domain receptorsGO:0086259.7BCL2, BAX
20ovarian follicle developmentGO:0015419.7BAX, BCL2
21extrinsic apoptotic signaling pathway in absence of ligandGO:0971929.6BAX, BCL2
22angiogenesisGO:0015259.6TGFBI, COL8A1, COL8A2
23negative regulation of neuron apoptotic processGO:0435249.5PRDX2, BCL2, BAX
24regulation of mitochondrial membrane potentialGO:0518819.5BCL2, BAX, PRDX3
25cellular response to reactive oxygen speciesGO:0346149.3PRDX3, PRDX5
26response to hydrogen peroxideGO:0425429.1PRDX3, BCL2
27hydrogen peroxide catabolic processGO:0427448.4PRDX3, PRDX5, PRDX6, PRDX2
28response to oxidative stressGO:0069798.4PRDX2, PRDX5, PRDX3, PRDX6
29negative regulation of apoptotic processGO:0430668.4PRDX2, PRDX5, PRDX3, BCL2

Molecular functions related to Fuchs' Endothelial Dystrophy according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:0009789.8TCF4, PITX2
2BH3 domain bindingGO:0514349.8BAX, BCL2
3channel activityGO:0152679.7BCL2, BAX
4peroxidase activityGO:0046018.9PRDX3, PRDX5
5antioxidant activityGO:0162098.8PRDX5, PRDX6, PRDX2
6cysteine-type endopeptidase inhibitor activity involved in apoptotic processGO:0430278.7PRDX3, PRDX5
7peroxiredoxin activityGO:0519208.7PRDX3, PRDX5, PRDX6

Products for genes affiliated with Fuchs' Endothelial Dystrophy

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  • Antibodies
  • Proteins
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Sources for Fuchs' Endothelial Dystrophy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet