MCID: FCH001
MIFTS: 47

Fuchs' Endothelial Dystrophy malady

Genetic diseases, Eye diseases, Rare diseases categories

Summaries for Fuchs' Endothelial Dystrophy

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Genetics Home Reference:21 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 based summary: Fuchs' Endothelial Dystrophy, also known as fuchs endothelial dystrophy, is related to keratoconus and corneal edema. An important gene associated with Fuchs' Endothelial Dystrophy is COL8A2 (collagen, type VIII, alpha 2), and among its related pathways are Apoptosis and survival Anti apoptotic action of nuclear ESR1 and ESR2 and TP53 network. The compounds bax inhibitor peptide v5 and mim1 have been mentioned in the context of this disorder. Affiliated tissues include endothelial and eye, and related mouse phenotypes are hearing/vestibular/ear and renal/urinary system.

Disease Ontology:9 A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of descemet's membrane, leading to corneal edema and loss of vision.

Wikipedia:63 Fuchs\' dystrophy (pronounced fooks-DIS-tr?-fe), also known as Fuchs\' corneal endothelial dystrophy or... more...

Aliases & Classifications for Fuchs' Endothelial Dystrophy

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Sources:
9Disease Ontology, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 60UMLS, 55SNOMED-CT, 27ICD9CM, 38NCIt, 33MeSH, 26ICD10 via Orphanet
See all sources

Fuchs' Endothelial Dystrophy, Aliases & Descriptions:

Name: Fuchs' Endothelial Dystrophy 9 21
Fuchs Endothelial Dystrophy 21 11 60
Fuchs' Endothelial Corneal Dystrophy 9 20
Fuchs Endothelial Corneal Dystrophy 21 47
Fuchs Dystrophy 21 43
Corneal Dystrophy, Fuchs' Endothelial, 1 60
Late Hereditary Endothelial Dystrophy 47
 
Corneal Dystrophy, Fuchs Endothelial 43
Endoepithelial Corneal Dystrophy 47
Fuchs' Corneal Dystrophy 9
Fuchs Corneal Dystrophy 21
Fuchs Atrophy 21
Fecd 47
Fced 9


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Orphanet: 47 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

47
fuchs endothelial corneal dystrophy:
Inheritance: Autosomal dominant,Multigenic/multifactorial,Not applicable; Age of onset: Adult


External Ids:

Disease Ontology9 DOID:11555
ICD9CM27 371.57
NCIt38 C84721
MeSH33 D005642
Orphanet47 98974
ICD10 via Orphanet26 H18.5

Related Diseases for Fuchs' Endothelial Dystrophy

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Diseases related to Fuchs' Endothelial Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
idRelated DiseaseScoreTop Affiliating Genes
1keratoconus31.1VSX1, COL8A2, TGFBI
2corneal edema30.6SLC4A11, VSX1
3corneal dystrophy30.3SLC4A11, VSX1, COL8A2, COL8A1, TGFBI
4endotheliitis11.1
5corneal dystrophy, fuchs endothelial, 710.7
6cataract10.6
7keratopathy10.6
8bullous keratopathy10.6
9corneal dystrophy, fuchs endothelial, 610.5
10corneal dystrophy, fuchs endothelial, 310.5
11corneal dystrophy, fuchs endothelial, 410.5
12eye disease10.5
13corneal dystrophy, fuchs endothelial, 510.4
14corneal dystrophy, fuchs endothelial, 810.4
15ocular hypertension10.4
16myotonic dystrophy10.4
17posterior cortical atrophy10.4
18corneal dystrophy, fuchs endothelial, 110.3
19corneal dystrophy, fuchs endothelial, 210.3
20blepharospasm10.3
21corneal dystrophy, posterior polymorphous, 110.2ZEB1, COL8A2, VSX1
22reticulosarcoma10.1BCL2, CLU
23lung cancer10.0PRDX5, BCL2, BAX
24b-cell lymphomas10.0BAX, BCL2, CLU
25endometrial cancer10.0TCF4, BCL2, BAX
26lung cancer susceptibility 39.9TGFBI, PRDX5, BCL2, BAX
27small cell cancer of the lung, somatic9.9BAX, BCL2, PRDX5
28malignant glioma9.8BAX, BCL2, CLU, PITX2
29ovarian cancer, somatic9.8CLU, PRDX5, BCL2, BAX
30cervical cancer, somatic9.8CLU, BCL2, BAX
31adenocarcinoma9.8BAX, BCL2, PRDX6, CLU, TGFBI
32hepatocellular carcinoma9.8CLU, TCF4, PRDX5, BCL2, BAX
33tongue squamous cell carcinoma9.8CLU, TCF4, PRDX2, BCL2, BAX
34colorectal cancer9.7TGFBI, CLU, TCF4, BCL2, BAX
35leukemia9.7PITX2, TGFBI, TCF4, BCL2, BAX
36breast cancer9.6PITX2, CLU, PRDX2, PRDX6, PRDX5, BCL2

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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Drugs & Therapeutics for Fuchs' Endothelial Dystrophy

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Drug clinical trials:

Search ClinicalTrials for Fuchs' Endothelial Dystrophy

Search NIH Clinical Center for Fuchs' Endothelial Dystrophy

Genetic Tests for Fuchs' Endothelial Dystrophy

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Genetic tests related to Fuchs' Endothelial Dystrophy:

id Genetic test Affiliating Genes
1 Fuchs Endothelial Corneal Dystrophy20

Anatomical Context for Fuchs' Endothelial Dystrophy

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MalaCards organs/tissues related to Fuchs' Endothelial Dystrophy:

31
Endothelial, Eye

Animal Models for Fuchs' Endothelial Dystrophy or affiliated genes

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MGI Mouse Phenotypes related to Fuchs' Endothelial Dystrophy:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.8TCF4, LOXHD1, ZEB1, BCL2, BAX, SLC4A11
2MP:00053678.7SLC4A11, BAX, BCL2, PRDX6, CLU
3MP:00053888.1PITX2, PRDX6, PRDX3, ZEB1, BCL2, BAX
4MP:00036317.9PITX2, CLU, TCF4, LOXHD1, ZEB1, BCL2
5MP:00053977.8PITX2, TGFBI, TCF4, PRDX2, ZEB1, BCL2
6MP:00053917.7SLC4A11, PITX2, PRDX6, ZEB1, COL8A1, COL8A2
7MP:00053767.4PITX2, TGFBI, CLU, PRDX2, PRDX6, ZEB1
8MP:00053877.3PITX2, TGFBI, CLU, TCF4, PRDX2, PRDX3
9MP:00053847.1PITX2, TGFBI, TCF4, PRDX2, PRDX6, PRDX3

Publications for Fuchs' Endothelial Dystrophy

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Articles related to Fuchs' Endothelial Dystrophy:

(show top 50)    (show all 54)
idTitleAuthorsYear
1
Objective assessment of the corneal endothelium in Fuchs' endothelial dystrophy. (24508788)
2014
2
Vision-related Quality of Life Before and After Keratoplasty for Fuchs' Endothelial Dystrophy. (25015214)
2014
3
A retrospective study of the association between Fuchs' endothelial dystrophy and glaucoma. (25378902)
2014
4
Corneal Abnormalities Early in the Course ofA Fuchs' Endothelial Dystrophy. (25156138)
2014
5
Outcome of Two Corneal Collagen Crosslinking Methods in Bullous Keratopathy due to Fuchs' Endothelial Dystrophy. (25484904)
2014
6
Intraocular pressure and corneal biomechanics in Fuchs' endothelial dystrophy and after posterior lamellar keratoplasty. (23607620)
2013
7
Retained Descemet's membrane following penetrating keratoplasty for Fuchs' endothelial dystrophy: a case report of a post-operative complication. (23901260)
2013
8
Anterior corneal aberrations after Descemet's stripping endothelial keratoplasty for Fuchs' endothelial dystrophy. (22480739)
2012
9
Association of TCF4 and CLU polymorphisms with Fuchs' endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process. (22234156)
2012
10
In vivo confocal microscopy of combined pre-descemet membrane corneal dystrophy and fuchs endothelial dystrophy. (20847662)
2011
11
Persistent corneal edema after descemetorhexis without corneal graft implantation in a case of fuchs endothelial dystrophy. (21045656)
2011
12
Descemet's stripping with endothelial keratoplasty for special Fuchs' endothelial dystrophy in phakic eyes. (21212708)
2011
13
Approaching cataract surgery in patients with fuchs' endothelial dystrophy. (20057291)
2010
14
Combined anterior keratoconus and Fuchs' endothelial dystrophy: a report of two cases. (20597912)
2010
15
Fuchs' endothelial dystrophy in 830-nm spectral domain optical coherence tomography. (19320314)
2009
16
Mutational analysis of VSX-1 in one patient with posterior polymorphous corneal dystrophy and in three families with hereditary Fuchs endothelial dystrophy]. (19507099)
2009
17
Increased clusterin expression in Fuchs' endothelial dystrophy. (18378577)
2008
18
Posterior mushroom keratoplasty in patients with Fuchs endothelial dystrophy and pseudophakic bullous keratopathy: transplant outcome. (18580259)
2008
19
Decreased expression of peroxiredoxins in Fuchs' endothelial dystrophy. (18378575)
2008
20
Simultaneous phacoemulsification and DSEK in patients with concomitant cataract and bullous keratopathy due to Fuchs endothelial dystrophy. (18812092)
2008
21
Effectiveness of the soft-shell technique in patients with Fuchs' endothelial dystrophy. (17964396)
2007
22
A novel PITX2 mutation and a polymorphism in a 5-generation family with Axenfeld-Rieger anomaly and coexisting Fuchs' endothelial dystrophy. (16876867)
2006
23
Epithelial metaplasia of the corneal endothelium in Fuchs endothelial dystrophy. (17102674)
2006
24
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
25
Potential complications of ocular surgery in patients with coexistent keratoconus and Fuchs' endothelial dystrophy. (16996603)
2006
26
Cataract extraction in eyes with Fuchs' endothelial dystrophy in China. (16098269)
2005
27
Laser in situ keratomileusis in patients with corneal guttata and family history of Fuchs' endothelial dystrophy. (16473218)
2005
28
Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy. (15175909)
2004
29
Corneal decompensation after laser in situ keratomileusis in fuchs' endothelial dystrophy. (12792486)
2003
30
Mechanisms of disease: Fuchs' endothelial dystrophy. (12064077)
2002
31
The role of apoptosis in the pathogenesis of Fuchs endothelial dystrophy of the cornea. (11709009)
2001
32
Fuchs' endothelial dystrophy: a fresh look at an aging disease. (10627840)
1999
33
Confocal microscopy in cornea guttata and Fuchs' endothelial dystrophy. (10396196)
1999
34
In vivo confocal microscopy of Fuchs' endothelial dystrophy. (9756443)
1998
35
Long-term results after penetrating keratoplasty for Fuchs' endothelial dystrophy. (8540845)
1996
36
Diagnosis of advanced Fuchs' endothelial dystrophy with the confocal microscope. (8238235)
1993
37
Blepharospasm and Fuchs' endothelial dystrophy. (8119439)
1993
38
Fuchs' endothelial dystrophy of the cornea. (8235998)
1993
39
Keratoconus and Fuchs' endothelial dystrophy. (1889226)
1991
40
Cataract formation following corneal transplantation in eyes with Fuchs' endothelial dystrophy. (2078957)
1990
41
Characterization of stroma from Fuchs' endothelial dystrophy corneas. (2785446)
1989
42
Moderate Fuchs' endothelial dystrophy ATPase pump site density. (2545644)
1989
43
Cytochrome oxidase activity of Fuchs' endothelial dystrophy. (3026733)
1986
44
Characterization of the Descemet's membrane/posterior collagenous layer isolated from Fuchs' endothelial dystrophy corneas. (6389163)
1984
45
Long term results of corneal grafting in Fuchs' endothelial dystrophy. (6380203)
1984
46
Is there an association between Fuchs' endothelial dystrophy and cardiovascular disease? (6333375)
1984
47
Bullous keratopathy (Fuchs' endothelial dystrophy) treated systemically with 4-trans-amino-cyclohexano-carboxylic acid. (302548)
1977
48
Inheritance of Fuchs' endothelial dystrophy. (5313141)
1971
49
Fate of successful corneal grafts in Fuchs' endothelial dystrophy. (4900890)
1969
50
THE FINE STRUCTURE OF THE CORNEA IN FUCHS' ENDOTHELIAL DYSTROPHY. (14121146)
1964

Variations for Fuchs' Endothelial Dystrophy

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Clinvar genetic disease variations for Fuchs' Endothelial Dystrophy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1ZEB1NM_030751.5(ZEB1): c.233A> C (p.Asn78Thr)single nucleotide variantPathogenicrs80194531GRCh37Chr 10, 31750140: 31750140
2ZEB1NM_030751.5(ZEB1): c.2519A> C (p.Gln840Pro)single nucleotide variantPathogenicrs118020901GRCh37Chr 10, 31810782: 31810782
3SLC4A11NM_001174089.1(SLC4A11): c.2078G> A (p.Gly693Glu)single nucleotide variantPathogenicrs267607064GRCh37Chr 20, 3209598: 3209598
4SLC4A11NM_001174089.1(SLC4A11): c.2213C> T (p.Thr738Met)single nucleotide variantPathogenicrs267607066GRCh37Chr 20, 3209333: 3209333
5SLC4A11SLC4A11, 2-BP DEL, 99TCdeletionPathogenic
6SLC4A11NM_001174089.1(SLC4A11): c.1147G> A (p.Glu383Lys)single nucleotide variantPathogenicrs267607065GRCh37Chr 20, 3211600: 3211600
7COL8A2NM_005202.3(COL8A2): c.1363C> A (p.Gln455Lys)single nucleotide variantPathogenicrs80358191GRCh37Chr 1, 36563919: 36563919
8COL8A2NM_005202.3(COL8A2): c.1349T> G (p.Leu450Trp)single nucleotide variantPathogenicrs80358192GRCh37Chr 1, 36563933: 36563933
9AGBL1NM_152336.2(AGBL1): c.3082C> T (p.Arg1028Ter)single nucleotide variantPathogenicrs185919705GRCh37Chr 15, 87217666: 87217666
10AGBL1NM_152336.2(AGBL1): c.2969G> C (p.Cys990Ser)single nucleotide variantPathogenicrs181958589GRCh37Chr 15, 87217553: 87217553

Expression for genes affiliated with Fuchs' Endothelial Dystrophy

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

Pathways for genes affiliated with Fuchs' Endothelial Dystrophy

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Compounds for genes affiliated with Fuchs' Endothelial Dystrophy

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Compounds related to Fuchs' Endothelial Dystrophy according to GeneCards Suite gene sharing:

(show top 50)    (show all 59)
idCompoundScoreTop Affiliating Genes
1bax inhibitor peptide v55910.1BCL2, BAX
2mim15910.1BCL2, BAX
3bax channel blocker5910.1BCL2, BAX
4ha14-15910.1BCL2, BAX
5at 1015910.1BCL2, BAX
6ponicidin4310.1BCL2, BAX
7mononucleotide4310.1BAX, TCF4
8tanshinone iia4310.1BCL2, BAX
9gambogic acid4310.1BCL2, BAX
10evodiamine4310.1BAX, BCL2
11ptpc4310.1BCL2, BAX
12bongkrekic acid4310.1BAX, BCL2
13oridonin4310.1BAX, BCL2
14bufalin4310.1BCL2, BAX
154,6-diamidino-2-phenylindole4310.1BCL2, BAX
1610-hydroxycamptothecin4310.1BCL2, BAX
17ursolic acid4310.0BCL2, BAX
18beta-lapachone4310.0BCL2, BAX
19sanguinarine4310.0BCL2, BAX
20ginsenoside4310.0BCL2, BAX
21exisulind4310.0BAX, BCL2
22shikonin4310.0BAX, BCL2
23pd 1693164310.0BAX, BCL2
24diallyl disulfide439.9BCL2, BAX
25gossypol439.9BCL2, BAX
26eb 108943 5910.8BAX, BCL2, CLU
27dutp439.8BAX, BCL2, CLU
28chlorambucil43 1210.8BAX, BCL2
29camptothecin43 59 1211.7BAX, BCL2, CLU
30phenethyl isothiocyanate2 4310.7BCL2, BAX
31hoechst 33342439.7BAX, BCL2
32docetaxel43 49 59 1212.7CLU, BCL2, BAX
33olomoucine43 1210.6BCL2, BAX
34agarose439.6BAX, BCL2, CLU
35vitamin e succinate439.4BAX, BCL2
36sulforaphane439.3PRDX5, BCL2, BAX
37resveratrol43 59 24 1212.2BAX, BCL2, PRDX5
38adriamycin439.2PRDX5, BCL2, BAX
39dithiothreitol439.1PRDX2, PRDX6, PRDX5
40etoposide43 49 59 1212.0CLU, PRDX5, BCL2, BAX
41n acetylcysteine439.0BAX, BCL2, PRDX5, CLU
42curcumin438.9BAX, BCL2, PRDX5
43glyceraldehyde 3-phosphate438.8CLU, PRDX2, PRDX6, PRDX5
44cisplatin43 49 59 1211.7CLU, PRDX5, BCL2, BAX
45superoxide43 249.2CLU, PRDX2, PRDX6, PRDX5, PRDX3
46retinoic acid43 249.2CLU, PRDX2, PRDX5, BCL2, BAX
47cysteine438.2PRDX6, PRDX2, CLU, TGFBI, PITX2, PRDX5
48serine437.8PITX2, TGFBI, CLU, PRDX2, PRDX6, PRDX5
49h2o2437.4BAX, CLU, PRDX2, PRDX6, PRDX5, PRDX3
50oxygen43 248.4CLU, PRDX2, PRDX6, PRDX5, PRDX3, BCL2

GO Terms for genes affiliated with Fuchs' Endothelial Dystrophy

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Cellular components related to Fuchs' Endothelial Dystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1pore complexGO:00469309.8BAX, BCL2
2transcription factor complexGO:00056679.7ZEB1, TCF4, PITX2
3basement membraneGO:00056049.5TGFBI, COL8A1, COL8A2
4extracellular matrixGO:00310129.3COL8A2, COL8A1, CLU, TGFBI
5extracellular vesicular exosomeGO:00700627.7TGFBI, CLU, PRDX2, PRDX6, PRDX5, BAX
6mitochondrionGO:00057397.6CLU, PRDX5, PRDX3, BCL2, BAX
7cytosolGO:00058297.3CLU, PRDX2, PRDX6, PRDX5, BCL2, BAX

Biological processes related to Fuchs' Endothelial Dystrophy according to GeneCards Suite gene sharing:

(show all 27)
idNameGO IDScoreTop Affiliating Genes
1regulation of nitrogen utilizationGO:000680810.0BAX, BCL2
2epithelial cell proliferationGO:005067310.0COL8A2, COL8A1
3regulation of protein heterodimerization activityGO:004349710.0BCL2, BAX
4camera-type eye morphogenesisGO:004859310.0COL8A2, COL8A1
5regulation of protein homodimerization activityGO:004349610.0BCL2, BAX
6endoplasmic reticulum calcium ion homeostasisGO:003246910.0BAX, BCL2
7response to acidGO:000110110.0BAX, BCL2
8negative regulation of apoptotic signaling pathwayGO:020012349.9BAX, BCL2
9cellular response to organic substanceGO:00713109.9BCL2, BAX
10B cell homeostasisGO:00017829.9BCL2, BAX
11homeostasis of number of cells within a tissueGO:00488739.9BCL2, BAX
12spleen developmentGO:00485369.9BCL2, PITX2
13intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stressGO:00700599.8BAX, BCL2
14response to gamma radiationGO:00103329.8BAX, BCL2
15release of cytochrome c from mitochondriaGO:00018369.8BAX, BCL2, CLU
16positive regulation of intrinsic apoptotic signaling pathwayGO:020012449.7CLU, BCL2, BAX
17intrinsic apoptotic signaling pathwayGO:00971939.7BAX, BCL2, CLU
18extrinsic apoptotic signaling pathway in absence of ligandGO:00971929.7BAX, BCL2
19neuron apoptotic processGO:00514029.6BAX, BCL2
20negative regulation of neuron apoptotic processGO:00435249.5PRDX2, BCL2, BAX
21regulation of mitochondrial membrane potentialGO:00518819.4BAX, BCL2, PRDX3
22angiogenesisGO:00015259.4TGFBI, COL8A1, COL8A2
23extrinsic apoptotic signaling pathway via death domain receptorsGO:00086259.4BAX, BCL2
24cellular response to reactive oxygen speciesGO:00346149.3PRDX3, PRDX5
25hydrogen peroxide catabolic processGO:00427448.4PRDX3, PRDX5, PRDX6, PRDX2
26response to oxidative stressGO:00069798.4PRDX2, PRDX6, PRDX5, PRDX3
27negative regulation of apoptotic processGO:00430668.3BCL2, PRDX3, PRDX5, PRDX2

Molecular functions related to Fuchs' Endothelial Dystrophy according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1E-box bindingGO:007088810.0ZEB1, TCF4
2BH3 domain bindingGO:00514349.8BAX, BCL2
3channel activityGO:00152679.7BCL2, BAX
4peroxidase activityGO:00046018.9PRDX3, PRDX5
5antioxidant activityGO:00162098.8PRDX5, PRDX6, PRDX2
6cysteine-type endopeptidase inhibitor activity involved in apoptotic processGO:00430278.7PRDX3, PRDX5
7peroxiredoxin activityGO:00519208.7PRDX3, PRDX5, PRDX6

Products for genes affiliated with Fuchs' Endothelial Dystrophy

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Sources for Fuchs' Endothelial Dystrophy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet