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Congenital stromal corneal dystrophy
Congenital stromal corneal dystrophy
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
CONGENITAL STROMAL CORNEAL DYSTROPHY
101068
MONDO:0012401
DCN
Causal
15671264
11805522
21993463
24413633
20301741
ClinVar
,
GWAS catalog
,
Orphanet
TGF-beta signaling pathway
Cytoskeleton in muscle cells
Proteoglycans in cancer
Degradation of the extracellular matrix
A tetrasaccharide linker sequence is required for GAG synthesis
Chondroitin sulfate biosynthesis
Dermatan sulfate biosynthesis
CS/DS degradation
ECM proteoglycans
Defective B4GALT7 causes EDS, progeroid type
Defective B3GAT3 causes JDSSDHD
Defective CHST3 causes SEDCJD
Defective CHST14 causes EDS, musculocontractural type
Defective CHSY1 causes TPBS
Defective B3GALT6 causes EDSP2 and SEMDJL1
+12 more
SPARCL1
Unknown
39169229
Orphanet
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation
All
2
Causal
1
Unknown
1
Select all
Clear
ClinVar
1
Orphanet
2
Disgenet
0
CTD
0
HPO
0
GWAS catalog
1
GenCC
0
ClinGen
0
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Diseases that share the most curated genes with Congenital stromal corneal dystrophy.
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Corneal dystrophy
2 shared genes
DCN, SPARCL1
Related via 2 shared genes including DCN, SPARCL1.
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1 shared gene
SPARCL1
Related via 1 shared gene including SPARCL1.
Endometrial neoplasms
1 shared gene
DCN
Related via 1 shared gene including DCN.
Epilepsy
1 shared gene
SPARCL1
Related via 1 shared gene including SPARCL1.
Endometriosis
1 shared gene
SPARCL1
Related via 1 shared gene including SPARCL1.
1
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