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Dermatosparaxis ehlers-danlos syndrome
Dermatosparaxis ehlers-danlos syndrome
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
DERMATOSPARAXIS EHLERS-DANLOS SYNDROME
1901
ADAMTS2
Unknown
10417273
Orphanet
Collagen biosynthesis and modifying enzymes
Defective B3GALTL causes Peters-plus syndrome (PpS)
O-glycosylation of TSR domain-containing proteins
ADAMTSL2
Unknown
33369194
Orphanet
Defective B3GALTL causes Peters-plus syndrome (PpS)
O-glycosylation of TSR domain-containing proteins
All
2
Causal
0
Unknown
2
Select all
Clear
ClinVar
0
Orphanet
2
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
Related Diseases
Diseases that share the most curated genes with Dermatosparaxis ehlers-danlos syndrome.
5
View disease cluster →
Geleophysic dysplasia
1 shared gene
ADAMTSL2
Related via 1 shared gene including ADAMTSL2.
Congenital hand deformities
1 shared gene
ADAMTSL2
Related via 1 shared gene including ADAMTSL2.
Contracture
1 shared gene
ADAMTSL2
Related via 1 shared gene including ADAMTSL2.
Ehlers-danlos syndrome
2 shared genes
ADAMTS2, ADAMTSL2
Related via 2 shared genes including ADAMTS2, ADAMTSL2.
Heart valve prolapse
1 shared gene
ADAMTSL2
Related via 1 shared gene including ADAMTSL2.
1
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