Disease table of DESBUQUOIS DYSPLASIA OMIM ID: PS251450

Gene-disease associations table

GeneAssociated with DESBUQUOIS DYSPLASIA inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
CANT1ClinVar, OMIM, HUMSAVARHGNC link17q25.31PS251450
XYLT1ClinVar, OMIM, HUMSAVARHGNC link16p12.32264800, PS251450

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
Interactions from BIOGRID - physical
Interactions from BIOGRID - genetic
Interactions from STRING
Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
KEGG pathways annotation: shared terms / NET-GE enrichment (no shared terms)
REACTOME pathways annotation: shared terms / NET-GE enrichment (no shared terms)
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
catalytic activity (GO:0003824) 1.052XYLT1, CANT1
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
organic substance biosynthetic process (GO:1901576) 1.342XYLT1, CANT1
metabolic process (GO:0008152) 0.582XYLT1, CANT1
cellular macromolecule metabolic process (GO:0044260) 0.932XYLT1, CANT1
organic substance metabolic process (GO:0071704) 0.632XYLT1, CANT1
carbohydrate derivative biosynthetic process (GO:1901137) 3.732XYLT1, CANT1
carbohydrate derivative metabolic process (GO:1901135) 3.072XYLT1, CANT1
cellular process (GO:0009987) 0.262XYLT1, CANT1
cellular metabolic process (GO:0044237) 0.692XYLT1, CANT1
macromolecule metabolic process (GO:0043170) 0.832XYLT1, CANT1
proteoglycan biosynthetic process (GO:0030166) 6.172XYLT1, CANT1
cellular biosynthetic process (GO:0044249) 1.372XYLT1, CANT1
biosynthetic process (GO:0009058) 1.322XYLT1, CANT1
macromolecule biosynthetic process (GO:0009059) 1.612XYLT1, CANT1
cellular macromolecule biosynthetic process (GO:0034645) 1.662XYLT1, CANT1
proteoglycan metabolic process (GO:0006029) 5.782XYLT1, CANT1
glycoprotein metabolic process (GO:0009100) 5.232XYLT1, CANT1
glycoprotein biosynthetic process (GO:0009101) 5.862XYLT1, CANT1

NET-GE enrichment

Term New enriched termICP valueGenes
proteoglycan biosynthetic process (GO:0030166) -6.170.0XYLT1, CANT1
carbohydrate derivative biosynthetic process (GO:1901137) -3.730.03XYLT1, CANT1
proteoglycan metabolic process (GO:0006029) -5.780.0XYLT1, CANT1
glycoprotein metabolic process (GO:0009100) -5.230.001XYLT1, CANT1
glycoprotein biosynthetic process (GO:0009101) -5.860.0XYLT1, CANT1
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
intracellular membrane-bounded organelle (GO:0043231) 0.62XYLT1, CANT1
Golgi apparatus (GO:0005794) 2.72XYLT1, CANT1
bounding membrane of organelle (GO:0098588) 2.392XYLT1, CANT1
endoplasmic reticulum (GO:0005783) 2.562XYLT1, CANT1
cytoplasmic part (GO:0044444) 0.822XYLT1, CANT1
integral component of membrane (GO:0016021) 1.142XYLT1, CANT1
membrane (GO:0016020) 0.682XYLT1, CANT1
cell part (GO:0044464) 0.112XYLT1, CANT1
Golgi apparatus part (GO:0044431) 3.02XYLT1, CANT1
endoplasmic reticulum membrane (GO:0005789) 2.952XYLT1, CANT1
intracellular organelle part (GO:0044446) 0.812XYLT1, CANT1
endoplasmic reticulum part (GO:0044432) 2.732XYLT1, CANT1
intracellular organelle (GO:0043229) 0.512XYLT1, CANT1
organelle part (GO:0044422) 0.792XYLT1, CANT1
intracellular part (GO:0044424) 0.282XYLT1, CANT1
membrane part (GO:0044425) 0.952XYLT1, CANT1
Golgi membrane (GO:0000139) 3.282XYLT1, CANT1
membrane-bounded organelle (GO:0043227) 0.472XYLT1, CANT1
organelle (GO:0043226) 0.42XYLT1, CANT1
intrinsic component of membrane (GO:0031224) 1.132XYLT1, CANT1
organelle membrane (GO:0031090) 1.972XYLT1, CANT1

NET-GE enrichment

Term New enriched termICP valueGenes
Golgi membrane (GO:0000139) -3.280.026XYLT1, CANT1
endoplasmic reticulum membrane (GO:0005789) -2.950.042XYLT1, CANT1