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Congenital contractural arachnodactyly
Congenital contractural arachnodactyly
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
CONGENITAL CONTRACTURAL ARACHNODACTYLY
C0220668
MESH:C536211
115
MONDO:0007363
FBN1
Causal
—
CTD
,
Disgenet
TGF-beta signaling pathway
Cytoskeleton in muscle cells
Degradation of the extracellular matrix
Elastic fibre formation
Molecules associated with elastic fibres
Integrin cell surface interactions
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation
+5 more
FBN2
Causal
20301560
8900230
20799338
10797416
9199560
11281275
9737771
9106527
CTD
,
ClinVar
,
Disgenet
,
GWAS catalog
,
Orphanet
Cytoskeleton in muscle cells
Degradation of the extracellular matrix
Elastic fibre formation
Molecules associated with elastic fibres
+1 more
All
29
Causal
2
Unknown
28
Select all
Clear
ClinVar
1
Orphanet
1
Disgenet
2
CTD
2
HPO
0
GWAS catalog
1
GenCC
0
ClinGen
0
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1
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