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

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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: Eye diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0060440

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Summaries for Epithelial and Subepithelial Dystrophy

MalaCards based summary : Epithelial and Subepithelial Dystrophy is related to corneal degeneration and tyrosinemia, type ii. 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. Affiliated tissues include eye and endothelial.

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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 19)

#	Related Disease	Score	Top Affiliating Genes
1	corneal degeneration	10.0	KRT12 TGFBI
2	tyrosinemia, type ii	10.0	CHST6 KRT12
3	lattice corneal dystrophy	10.0	TACSTD2 TGFBI
4	limbal stem cell deficiency	10.0	KRT12 KRT3
5	stromal dystrophy	9.9	CHST6 TGFBI
6	macular dystrophy, corneal	9.9	CHST6 KRT12 TGFBI
7	keratoconus	9.9	KRT12 KRT3 TGFBI
8	corneal dystrophy, reis-bucklers type	9.9	TACSTD2 TBCD TGFBI
9	astigmatism	9.8	KRT12 KRT3
10	corneal dystrophy, avellino type	9.8	CHST6 TBCD TGFBI
11	corneal dystrophy, gelatinous drop-like	9.8	CHST6 KRT12 TACSTD2 TGFBI
12	corneal granular dystrophy	9.7	CHST6 KRT12 KRT3 TGFBI
13	corneal dystrophy, meesmann	9.7	CHST6 KRT12 KRT3 TGFBI
14	corneal endothelial dystrophy	9.7	CHST6 KRT12 KRT3 TGFBI
15	epithelial basement membrane dystrophy	9.7	PLEC TBCD TGFBI
16	corneal dystrophy	9.6	CHST6 KRT12 KRT3 TACSTD2 TGFBI
17	corneal disease	9.6	CHST6 KRT12 KRT3 TACSTD2 TGFBI
18	epithelial-stromal tgfbi dystrophy	9.6	CHST6 KRT12 TACSTD2 TBCD TGFBI
19	corneal dystrophy, thiel-behnke type	9.4	CHST6 KRT12 KRT3 TACSTD2 TBCD TGFBI

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

MalaCards organs/tissues related to Epithelial and Subepithelial Dystrophy:

⁴¹

Eye, Endothelial

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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):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	TACSTD2	Tumor Associated Calcium Signal Transducer 2	Protein Coding	18.74	DISEASES inferred ¹⁵
2	KRT12	Keratin 12	Protein Coding	18.13	DISEASES inferred ¹⁵
3	TGFBI	Transforming Growth Factor Beta Induced	Protein Coding	17.88	DISEASES inferred ¹⁵
4	COL10A1	Collagen Type X Alpha 1 Chain	Protein Coding	17.77	DISEASES inferred ¹⁵
5	KRT3	Keratin 3	Protein Coding	17.39	DISEASES inferred ¹⁵
6	TBCD	Tubulin Folding Cofactor D	Protein Coding	15.87	DISEASES inferred ¹⁵
7	PLEC	Plectin	Protein Coding	15.87	DISEASES inferred ¹⁵
8	CHST6	Carbohydrate Sulfotransferase 6	Protein Coding	15.5	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	PLEC TACSTD2 TGFBI

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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	extracellular exosome	GO:0070062	9.55	KRT12 KRT3 PLEC TACSTD2 TGFBI
2	bicellular tight junction	GO:0005923	9.26	TACSTD2 TBCD
3	lateral plasma membrane	GO:0016328	8.96	TACSTD2 TBCD
4	intermediate filament	GO:0005882	8.8	KRT12 KRT3 PLEC

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

#	Name	GO ID	Score	Top Affiliating Genes
1	cornification	GO:0070268	9.16	KRT12 KRT3
2	visual perception	GO:0007601	9.13	KRT12 TACSTD2 TGFBI
3	intermediate filament cytoskeleton organization	GO:0045104	8.62	KRT3 PLEC

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	GO:0005201	8.96	COL10A1 TGFBI
2	structural molecule activity	GO:0005198	8.8	KRT12 KRT3 PLEC

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Sources for Epithelial and Subepithelial Dystrophy

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