Disease table of PSEUDOXANTHOMA ELASTICUM OMIM ID: 264800

Gene-disease associations table

GeneAssociated with PSEUDOXANTHOMA ELASTICUM inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
ABCC6ClinVar, OMIM, HUMSAVARHGNC link16p13.113PS208000, 177850, 264800
XYLT2OMIM, HUMSAVARHGNC link17q21.332264800, 605822
XYLT1OMIM, HUMSAVARHGNC link16p12.32264800, PS251450

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
16p12XYLT1, ABCC6
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
16p2XYLT1, ABCC6
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
162XYLT1, ABCC6
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
ABCC6YES4HNF4A, PLAG1, PLAGL1, SOX20
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

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Glycosaminoglycan biosynthesis - heparan sulfate / heparinhsa005348.122XYLT1, XYLT2
Metabolic pathwayshsa011002.492XYLT1, XYLT2
Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfatehsa005328.452XYLT1, XYLT2

NET-GE enrichment

Term New enriched termICP valueGenes
Glycosaminoglycan biosynthesis - heparan sulfate / heparin (hsa00534) -8.120.0XYLT1, XYLT2
Glycan biosynthesis and metabolismNEW4.780.038XYLT1, XYLT2
Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate (hsa00532) -8.450.0XYLT1, XYLT2
REACTOME pathways annotation: shared terms / NET-GE enrichment (no shared terms)
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
catalytic activity (GO:0003824) 1.053XYLT1, XYLT2, ABCC6
protein xylosyltransferase activity (GO:0030158) 8.352XYLT1, XYLT2
UDP-xylosyltransferase activity (GO:0035252) 8.132XYLT1, XYLT2
xylosyltransferase activity (GO:0042285) 8.132XYLT1, XYLT2
transferase activity (GO:0016740) 1.952XYLT1, XYLT2
transferase activity, transferring glycosyl groups (GO:0016757) 4.082XYLT1, XYLT2
transferase activity, transferring pentosyl groups (GO:0016763) 5.72XYLT1, XYLT2
acetylglucosaminyltransferase activity (GO:0008375) 5.852XYLT1, XYLT2
UDP-glycosyltransferase activity (GO:0008194) 4.812XYLT1, XYLT2
transferase activity, transferring hexosyl groups (GO:0016758) 4.432XYLT1, XYLT2

NET-GE enrichment

Term New enriched termICP valueGenes
acetylglucosaminyltransferase activity (GO:0008375) -5.850.002XYLT1, XYLT2
protein xylosyltransferase activity (GO:0030158) -8.350.0XYLT1, XYLT2
UDP-xylosyltransferase activity (GO:0035252) -8.130.0XYLT1, XYLT2
xylosyltransferase activity (GO:0042285) -8.130.0XYLT1, XYLT2
transferase activity, transferring glycosyl groups (GO:0016757) -4.080.039XYLT1, XYLT2
transferase activity, transferring pentosyl groups (GO:0016763) -5.70.002XYLT1, XYLT2
transferase activity, transferring hexosyl groups (GO:0016758) -4.430.018XYLT1, XYLT2
UDP-glycosyltransferase activity (GO:0008194) -4.810.019XYLT1, XYLT2
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
chondroitin sulfate biosynthetic process (GO:0030206) 6.512XYLT1, XYLT2
chondroitin sulfate metabolic process (GO:0030204) 6.022XYLT1, XYLT2
glycosaminoglycan metabolic process (GO:0030203) 4.672XYLT1, XYLT2
heparan sulfate proteoglycan metabolic process (GO:0030201) 6.432XYLT1, XYLT2
mucopolysaccharide metabolic process (GO:1903510) 5.052XYLT1, XYLT2
cellular biosynthetic process (GO:0044249) 1.372XYLT1, XYLT2
nitrogen compound metabolic process (GO:0006807) 1.132XYLT1, XYLT2
cellular macromolecule biosynthetic process (GO:0034645) 1.662XYLT1, XYLT2
glycoprotein metabolic process (GO:0009100) 5.232XYLT1, XYLT2
glycoprotein biosynthetic process (GO:0009101) 5.862XYLT1, XYLT2
organic substance biosynthetic process (GO:1901576) 1.342XYLT1, XYLT2
cellular macromolecule metabolic process (GO:0044260) 0.932XYLT1, XYLT2
organic substance metabolic process (GO:0071704) 0.632XYLT1, XYLT2
cellular process (GO:0009987) 0.262XYLT1, XYLT2
proteoglycan biosynthetic process (GO:0030166) 6.172XYLT1, XYLT2
biosynthetic process (GO:0009058) 1.322XYLT1, XYLT2
macromolecule biosynthetic process (GO:0009059) 1.612XYLT1, XYLT2
metabolic process (GO:0008152) 0.582XYLT1, XYLT2
organonitrogen compound metabolic process (GO:1901564) 2.322XYLT1, XYLT2
organonitrogen compound biosynthetic process (GO:1901566) 2.852XYLT1, XYLT2
sulfur compound biosynthetic process (GO:0044272) 4.52XYLT1, XYLT2
carbohydrate derivative biosynthetic process (GO:1901137) 3.732XYLT1, XYLT2
carbohydrate derivative metabolic process (GO:1901135) 3.072XYLT1, XYLT2
cellular metabolic process (GO:0044237) 0.692XYLT1, XYLT2
macromolecule metabolic process (GO:0043170) 0.832XYLT1, XYLT2
heparan sulfate proteoglycan biosynthetic process (GO:0015012) 6.782XYLT1, XYLT2
proteoglycan metabolic process (GO:0006029) 5.782XYLT1, XYLT2
sulfur compound metabolic process (GO:0006790) 3.872XYLT1, XYLT2
aminoglycan metabolic process (GO:0006022) 4.622XYLT1, XYLT2
aminoglycan biosynthetic process (GO:0006023) 5.062XYLT1, XYLT2
glycosaminoglycan biosynthetic process (GO:0006024) 5.072XYLT1, XYLT2

NET-GE enrichment

Term New enriched termICP valueGenes
chondroitin sulfate biosynthetic process (GO:0030206) -6.510.001XYLT1, XYLT2
chondroitin sulfate metabolic process (GO:0030204) -6.020.004XYLT1, XYLT2
glycosaminoglycan metabolic process (GO:0030203) -4.670.029XYLT1, XYLT2
heparan sulfate proteoglycan metabolic process (GO:0030201) -6.430.001XYLT1, XYLT2
sulfur compound biosynthetic process (GO:0044272) -4.50.024XYLT1, XYLT2
carbohydrate derivative metabolic process (GO:1901135) -3.070.046XYLT1, XYLT2, ABCC6
proteoglycan biosynthetic process (GO:0030166) -6.170.001XYLT1, XYLT2
heparan sulfate proteoglycan biosynthetic process (GO:0015012) -6.780.0XYLT1, XYLT2
proteoglycan metabolic process (GO:0006029) -5.780.006XYLT1, XYLT2
aminoglycan metabolic process (GO:0006022) -4.620.033XYLT1, XYLT2
aminoglycan biosynthetic process (GO:0006023) -5.060.022XYLT1, XYLT2
glycoprotein metabolic process (GO:0009100) -5.230.006XYLT1, XYLT2
glycoprotein biosynthetic process (GO:0009101) -5.860.001XYLT1, XYLT2
glycosaminoglycan biosynthetic process (GO:0006024) -5.070.011XYLT1, XYLT2
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
endoplasmic reticulum (GO:0005783) 2.563XYLT1, XYLT2, ABCC6
integral component of membrane (GO:0016021) 1.143XYLT1, XYLT2, ABCC6
membrane (GO:0016020) 0.683XYLT1, XYLT2, ABCC6
cell part (GO:0044464) 0.113XYLT1, XYLT2, ABCC6
cytoplasmic part (GO:0044444) 0.823XYLT1, XYLT2, ABCC6
endoplasmic reticulum membrane (GO:0005789) 2.953XYLT1, XYLT2, ABCC6
intracellular organelle part (GO:0044446) 0.813XYLT1, XYLT2, ABCC6
endoplasmic reticulum part (GO:0044432) 2.733XYLT1, XYLT2, ABCC6
intracellular organelle (GO:0043229) 0.513XYLT1, XYLT2, ABCC6
organelle part (GO:0044422) 0.793XYLT1, XYLT2, ABCC6
intracellular part (GO:0044424) 0.283XYLT1, XYLT2, ABCC6
membrane part (GO:0044425) 0.953XYLT1, XYLT2, ABCC6
membrane-bounded organelle (GO:0043227) 0.473XYLT1, XYLT2, ABCC6
organelle (GO:0043226) 0.43XYLT1, XYLT2, ABCC6
intrinsic component of membrane (GO:0031224) 1.133XYLT1, XYLT2, ABCC6
intracellular membrane-bounded organelle (GO:0043231) 0.63XYLT1, XYLT2, ABCC6
Golgi apparatus (GO:0005794) 2.72XYLT1, XYLT2
Golgi apparatus part (GO:0044431) 3.02XYLT1, XYLT2
bounding membrane of organelle (GO:0098588) 2.392XYLT1, XYLT2
organelle membrane (GO:0031090) 1.972XYLT1, XYLT2
Golgi membrane (GO:0000139) 3.282XYLT1, XYLT2

NET-GE enrichment

Term New enriched termICP valueGenes
membrane region (GO:0098589) NEW3.950.007XYLT1, XYLT2, ABCC6