Epithelial and Subepithelial Dystrophy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: EPT023 MIFTS: 15	Epithelial and Subepithelial Dystrophy Categories: Neuronal diseases
Genes Related diseases Pathways Expand all tables

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Aliases & Classifications for Epithelial and Subepithelial Dystrophy

MalaCards integrated aliases for Epithelial and Subepithelial Dystrophy:

Name: Epithelial and Subepithelial Dystrophy ¹² ¹⁵

Classifications:

MalaCards categories:
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0060440

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Summaries for Epithelial and Subepithelial Dystrophy

Disease Ontology : ¹² A corneal dystrophy that primarily affects the corneal epithelium and its basement membrane.

MalaCards based summary : Epithelial and Subepithelial Dystrophy is related to corneal dystrophy, subepithelial mucinous and epithelial recurrent erosion dystrophy. An important gene associated with Epithelial and Subepithelial Dystrophy is TACSTD2 (Tumor Associated Calcium Signal Transducer 2), and among its related pathways/superpathways is Adhesion.

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Related Diseases for Epithelial and Subepithelial Dystrophy

Diseases related to Epithelial and Subepithelial Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)

#	Related Disease	Score	Top Affiliating Genes
1	corneal dystrophy, subepithelial mucinous	32.6	TBCD KRT12 COL10A1
2	epithelial recurrent erosion dystrophy	32.1	TP63 TGFBI TACSTD2 SPAG17 COL17A1
3	corneal dystrophy, lisch epithelial	32.1	UBIAD1 TBCD KRT3 KRT12 CHST6
4	corneal dystrophy, meesmann, 1	31.2	UBIAD1 TGFBI TBCD SECTM1 KRT3 KRT12
5	corneal dystrophy, gelatinous drop-like	31.1	UTP14C UBIAD1 TGFBI TBCD TACSTD2 KRT3
6	epithelial basement membrane dystrophy	30.7	TMEM263 TGFBI TBCD PLEC LINC00326 HECTD4
7	stromal corneal dystrophy	10.4	UBIAD1 TGFBI
8	tyrosinemia, type ii	10.3	KRT3 KRT12 CHST6
9	limbal stem cell deficiency	10.3	TP63 KRT3 KRT12
10	interstitial keratitis	10.3	TGFBI COL8A2
11	corneal ectasia	10.3	KRT3 COL8A2
12	pyloric atresia	10.3	PLEC COL17A1
13	schnyder corneal dystrophy	10.3	UBIAD1 KRT3 KRT12
14	epidermolysis bullosa simplex, generalized	10.2	PLEC COL17A1
15	epidermolysis bullosa simplex with muscular dystrophy	10.2	PLEC COL17A1
16	pseudopterygium	10.2	SLC4A11 KRT3 KRT12
17	metaphyseal chondrodysplasia, schmid type	10.2	COL8A2 COL10A1
18	corneal dystrophy, endothelial, x-linked	10.2	SLC4A11 COL8A2
19	secondary corneal edema	10.2	SLC4A11 COL8A2
20	corneal dystrophy, posterior polymorphous, 2	10.2	SLC4A11 COL8A2
21	corneal dystrophy, band-shaped	10.1	SLC4A11 COL8A2
22	vesiculobullous skin disease	10.1	PLEC COL17A1
23	lattice corneal dystrophy	10.1	TGFBI TBCD TACSTD2 KRT12 CHST6
24	corneal edema	10.1	SLC4A11 KRT3 COL8A2
25	corneal dystrophy, fleck	10.0	TBCD SLC4A11 COL8A2
26	epidermolysis bullosa junctionalis with pyloric atresia	10.0	PLEC COL17A1
27	corneal dystrophy, groenouw type i	10.0	UBIAD1 TGFBI TBCD KRT12 CHST6
28	corneal dystrophy, posterior polymorphous, 3	10.0	UBIAD1 SLC4A11 COL8A2
29	corneal dystrophy and perceptive deafness	10.0	SLC4A11 COL8A2
30	corneal deposit	9.9	UBIAD1 TGFBI TBCD KRT3 KRT12 CHST6
31	epidermolysis bullosa, junctional, herlitz type	9.9	PLEC COL17A1
32	irregular astigmatism	9.9	TGFBI SLC4A11 KRT3 KRT12 COL8A2
33	corneal dystrophy, avellino type	9.9	TGFBI TBCD KRT3 KRT12 COL8A2 CHST6
34	epithelial-stromal tgfbi dystrophy	9.9	TGFBI TBCD KRT3 KRT12 COL8A2 CHST6
35	fuchs' endothelial dystrophy	9.8	TGFBI SLC4A11 KRT3 COL8A2 CHST6
36	keratoconus	9.8	TGFBI SLC4A11 KRT3 KRT12 COL8A2
37	corneal dystrophy, reis-bucklers type	9.8	UBIAD1 TGFBI TBCD TACSTD2 KRT3 KRT12
38	recurrent corneal erosion	9.7	TGFBI TBCD KRT3 KRT12 COL8A2 COL17A1
39	corneal dystrophy, thiel-behnke type	9.6	UBIAD1 TGFBI TBCD TACSTD2 KRT3 KRT12
40	macular dystrophy, corneal	9.6	UBIAD1 TGFBI SLC4A11 KRT3 KRT12 COL8A2
41	corneal dystrophy, posterior polymorphous, 1	9.5	UBIAD1 TGFBI SLC4A11 KRT3 KRT12 COL8A2
42	corneal disease	9.4	UBIAD1 TGFBI TACSTD2 SLC4A11 KRT3 KRT12
43	corneal degeneration	9.4	UBIAD1 TGFBI TBCD SLC4A11 KRT3 KRT12
44	granular corneal dystrophy	9.4	UBIAD1 TGFBI TBCD SLC4A11 KRT3 KRT12
45	stromal dystrophy	9.4	UBIAD1 TGFBI TBCD SLC4A11 KRT3 KRT12
46	corneal endothelial dystrophy	9.4	UBIAD1 TGFBI TBCD SLC4A11 KRT3 KRT12
47	corneal dystrophy	9.1	UBIAD1 TGFBI TBCD TACSTD2 SLC4A11 KRT3

Graphical network of the top 20 diseases related to Epithelial and Subepithelial Dystrophy:

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Symptoms & Phenotypes for Epithelial and Subepithelial Dystrophy

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Drugs & Therapeutics for Epithelial and Subepithelial Dystrophy

Search Clinical Trials , NIH Clinical Center for Epithelial and Subepithelial Dystrophy

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Genetic Tests for Epithelial and Subepithelial Dystrophy

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Anatomical Context for Epithelial and Subepithelial Dystrophy

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Publications for Epithelial and Subepithelial Dystrophy

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Genes for Epithelial and Subepithelial Dystrophy

Genes related to Epithelial and Subepithelial Dystrophy (0 elite genes):

(show all 25)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	TACSTD2	Tumor Associated Calcium Signal Transducer 2	Protein Coding	8.16	DISEASES inferred ¹⁵
2	TGFBI	Transforming Growth Factor Beta Induced	Protein Coding	8.03	DISEASES inferred ¹⁵
3	KRT12	Keratin 12	Protein Coding	8.02	DISEASES inferred ¹⁵
4	SPAG17	Sperm Associated Antigen 17	Protein Coding	7.52	DISEASES inferred ¹⁵
5	KRT3	Keratin 3	Protein Coding	7.49	DISEASES inferred ¹⁵
6	COL10A1	Collagen Type X Alpha 1 Chain	Protein Coding	7.25	DISEASES inferred ¹⁵
7	CHST6	Carbohydrate Sulfotransferase 6	Protein Coding	6.96	DISEASES inferred ¹⁵
8	TBCD	Tubulin Folding Cofactor D	Protein Coding	6.77	DISEASES inferred ¹⁵
9	LINC00326	Long Intergenic Non-Protein Coding RNA 326	RNA Gene	6.21	DISEASES inferred ¹⁵
10	TP63	Tumor Protein P63	Protein Coding	6.01	DISEASES inferred ¹⁵
11	PLEC	Plectin	Protein Coding	5.98	DISEASES inferred ¹⁵
12	FAM9B	Family With Sequence Similarity 9 Member B	Protein Coding	5.98	DISEASES inferred ¹⁵
13	COL17A1	Collagen Type XVII Alpha 1 Chain	Protein Coding	5.98	DISEASES inferred ¹⁵
14	UBIAD1	UbiA Prenyltransferase Domain Containing 1	Protein Coding	5.97	DISEASES inferred ¹⁵
15	HECTD4	HECT Domain E3 Ubiquitin Protein Ligase 4	Protein Coding	5.96	DISEASES inferred ¹⁵
16	UTP14C	UTP14C Small Subunit Processome Component	Protein Coding	5.94	DISEASES inferred ¹⁵
17	COL8A2	Collagen Type VIII Alpha 2 Chain	Protein Coding	5.9	DISEASES inferred ¹⁵
18	SECTM1	Secreted And Transmembrane 1	Protein Coding	5.8	DISEASES inferred ¹⁵
19	SLC4A11	Solute Carrier Family 4 Member 11	Protein Coding	5.75	DISEASES inferred ¹⁵
20	TMEM263	Transmembrane Protein 263	Protein Coding	5.69	DISEASES inferred ¹⁵
21	HAO1	Hydroxyacid Oxidase 1	Protein Coding	5.57	DISEASES inferred ¹⁵
22	GSN	Gelsolin	Protein Coding	5.55	DISEASES inferred ¹⁵
23	NAA35	N-Alpha-Acetyltransferase 35, NatC Auxiliary Subunit	Protein Coding	5.46	DISEASES inferred ¹⁵
24	PRDM10	PR/SET Domain 10	Protein Coding	5.36	DISEASES inferred ¹⁵
25	DSP	Desmoplakin	Protein Coding	5.27	DISEASES inferred ¹⁵

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Variations for Epithelial and Subepithelial Dystrophy

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Expression for Epithelial and Subepithelial Dystrophy

Search GEO for disease gene expression data for Epithelial and Subepithelial Dystrophy.

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Pathways for Epithelial and Subepithelial Dystrophy

Pathways related to Epithelial and Subepithelial Dystrophy according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Adhesion ⁴	10.89	TGFBI TACSTD2 PLEC

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GO Terms for Epithelial and Subepithelial Dystrophy

Cellular components related to Epithelial and Subepithelial Dystrophy according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	collagen-containing extracellular matrix	GO:0062023	9.62	TGFBI COL8A2 COL17A1 COL10A1
2	extracellular matrix	GO:0031012	9.56	TGFBI COL8A2 COL17A1 COL10A1
3	basement membrane	GO:0005604	9.33	TGFBI COL8A2 COL17A1
4	collagen trimer	GO:0005581	9.13	COL8A2 COL17A1 COL10A1
5	hemidesmosome	GO:0030056	8.62	PLEC COL17A1

Biological processes related to Epithelial and Subepithelial Dystrophy according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular matrix organization	GO:0030198	9.26	TGFBI COL8A2 COL17A1 COL10A1
2	intermediate filament cytoskeleton organization	GO:0045104	9.16	PLEC KRT3
3	hemidesmosome assembly	GO:0031581	8.62	PLEC COL17A1

Molecular functions related to Epithelial and Subepithelial Dystrophy according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular matrix structural constituent conferring tensile strength	GO:0030020	9.13	COL8A2 COL17A1 COL10A1
2	extracellular matrix structural constituent	GO:0005201	8.92	TGFBI COL8A2 COL17A1 COL10A1

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Sources for Epithelial and Subepithelial Dystrophy

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

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⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

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¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

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⁴³ MeSH

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⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

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⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia