MCID: EPT024
MIFTS: 15

Epithelial-Stromal Tgfbi Dystrophy

Categories: Eye diseases

Aliases & Classifications for Epithelial-Stromal Tgfbi Dystrophy

MalaCards integrated aliases for Epithelial-Stromal Tgfbi Dystrophy:

Name: Epithelial-Stromal Tgfbi Dystrophy 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0060441

Summaries for Epithelial-Stromal Tgfbi Dystrophy

MalaCards based summary : Epithelial-Stromal Tgfbi Dystrophy is related to corneal dystrophy, lattice type i and corneal degeneration. An important gene associated with Epithelial-Stromal Tgfbi Dystrophy is TGFBI (Transforming Growth Factor Beta Induced). Affiliated tissues include eye and endothelial.

Related Diseases for Epithelial-Stromal Tgfbi Dystrophy

Graphical network of the top 20 diseases related to Epithelial-Stromal Tgfbi Dystrophy:



Diseases related to Epithelial-Stromal Tgfbi Dystrophy

Symptoms & Phenotypes for Epithelial-Stromal Tgfbi Dystrophy

Drugs & Therapeutics for Epithelial-Stromal Tgfbi Dystrophy

Search Clinical Trials , NIH Clinical Center for Epithelial-Stromal Tgfbi Dystrophy

Genetic Tests for Epithelial-Stromal Tgfbi Dystrophy

Anatomical Context for Epithelial-Stromal Tgfbi Dystrophy

MalaCards organs/tissues related to Epithelial-Stromal Tgfbi Dystrophy:

42
Eye, Endothelial

Publications for Epithelial-Stromal Tgfbi Dystrophy

Variations for Epithelial-Stromal Tgfbi Dystrophy

Expression for Epithelial-Stromal Tgfbi Dystrophy

Search GEO for disease gene expression data for Epithelial-Stromal Tgfbi Dystrophy.

Pathways for Epithelial-Stromal Tgfbi Dystrophy

GO Terms for Epithelial-Stromal Tgfbi Dystrophy

Cellular components related to Epithelial-Stromal Tgfbi Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.43 FAS GSN KRT12 KRT3 TACSTD2 TGFBI
2 lateral plasma membrane GO:0016328 9.16 TACSTD2 TBCD
3 intermediate filament GO:0005882 8.8 BFSP2 KRT12 KRT3

Biological processes related to Epithelial-Stromal Tgfbi Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intermediate filament cytoskeleton organization GO:0045104 9.16 BFSP2 KRT3
2 positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway GO:2001269 8.96 FAS GSN
3 visual perception GO:0007601 8.92 BFSP2 KRT12 TACSTD2 TGFBI

Sources for Epithelial-Stromal Tgfbi Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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