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ehlers-danlos syndrome, classic type
ehlers-danlos syndrome, classic type
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
Ehlers-Danlos syndrome, classic type
COL5A1
Causal
26188975
25845371
29543232
32938213
28868310
10946364
2180144
ClinGen
Cytoskeleton in muscle cells
Protein digestion and absorption
Collagen degradation
Extracellular matrix organization
Collagen biosynthesis and modifying enzymes
Signaling by PDGF
Assembly of collagen fibrils and other multimeric structures
Integrin cell surface interactions
Non-integrin membrane-ECM interactions
ECM proteoglycans
NCAM1 interactions
MET activates PTK2 signaling
Collagen chain trimerization
+10 more
COL5A2
Causal
15580559
22696272
ClinGen
Cytoskeleton in muscle cells
Protein digestion and absorption
Collagen degradation
Extracellular matrix organization
Collagen biosynthesis and modifying enzymes
Signaling by PDGF
Assembly of collagen fibrils and other multimeric structures
Integrin cell surface interactions
Non-integrin membrane-ECM interactions
ECM proteoglycans
NCAM1 interactions
MET activates PTK2 signaling
Collagen chain trimerization
+10 more
All
2
Causal
2
Unknown
0
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
2
Related Diseases
Diseases that share the most curated genes with ehlers-danlos syndrome, classic type.
5
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Neuropathic spinal arthropathy
2 shared genes
COL5A1, COL5A2
Related via 2 shared genes including COL5A1, COL5A2.
Rupture, spontaneous
1 shared gene
COL5A1
Related via 1 shared gene including COL5A1.
Loeys-dietz syndrome
2 shared genes
COL5A1, COL5A2
Related via 2 shared genes including COL5A1, COL5A2.
Congenital venous anomaly
1 shared gene
COL5A1
Related via 1 shared gene including COL5A1.
Corneal disease
1 shared gene
COL5A1
Related via 1 shared gene including COL5A1.
1
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