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Desbuquois dysplasia
Desbuquois dysplasia
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
DESBUQUOIS DYSPLASIA
MONDO:0015426
CANT1
Unknown
22539336
Disgenet
Purine metabolism
Pyrimidine metabolism
Metabolic pathways
Nucleotide metabolism
Neutrophil degranulation
+2 more
FAM20B
Unknown
30847897
GWAS catalog
—
XYLT1
Unknown
24581741
GWAS catalog
Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate
Glycosaminoglycan biosynthesis - heparan sulfate / heparin
Metabolic pathways
A tetrasaccharide linker sequence is required for GAG synthesis
+1 more
All
3
Causal
2
Unknown
3
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
1
CTD
0
HPO
0
GWAS catalog
2
GenCC
0
ClinGen
0
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Related via 2 shared genes including XYLT1, CANT1.
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1 shared gene
XYLT1
Related via 1 shared gene including XYLT1.
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1 shared gene
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Related via 1 shared gene including CANT1.
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1 shared gene
XYLT1
Related via 1 shared gene including XYLT1.
1
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