Disease table of PAGET DISEASE OF BONE OMIM ID: PS167250

Gene-disease associations table

GeneAssociated with PAGET DISEASE OF BONE inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
SQSTM1ClinVar, OMIM, HUMSAVARHGNC link5q35.32PS105400, PS167250
TNFRSF11AClinVar, OMIMHGNC link18q21.333PS259700, 174810, PS167250
TNFRSF11BClinVar, OMIMHGNC link8q24.121PS167250
ZNF687ClinVar, OMIMHGNC link1q21.31PS167250

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
SQSTM1YES4SP1, SPDEF, NFKB1, ETS10
TNFRSF11AYES1SPI10
TNFRSF11BYES4SMAD1, PPARG, HOXC8, CREB50
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
SQSTM1TNFRSF11ANo3NXF1, TRAF1, TRAF6
SQSTM1ZNF687No1CSNK2A2

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
SQSTM1ZNF687No-1CSNK2A1

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

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
Osteoclast differentiationhsa043805.643TNFRSF11A, TNFRSF11B, SQSTM1
Cytokine-cytokine receptor interactionhsa040604.672TNFRSF11A, TNFRSF11B

NET-GE enrichment

Term New enriched termICP valueGenes
DevelopmentNEW4.580.024TNFRSF11A, TNFRSF11B, SQSTM1
Cytokine-cytokine receptor interaction (hsa04060) -4.670.015TNFRSF11A, TNFRSF11B, SQSTM1
Osteoclast differentiation (hsa04380) -5.640.0TNFRSF11A, TNFRSF11B, SQSTM1
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Cytokine Signaling in Immune systemR-HSA-12802153.743TNFRSF11A, TNFRSF11B, SQSTM1
Immune SystemR-HSA-1682562.373TNFRSF11A, TNFRSF11B, SQSTM1
TNFR2 non-canonical NF-kB pathwayR-HSA-56685416.42TNFRSF11A, TNFRSF11B

NET-GE enrichment

Term New enriched termICP valueGenes
Cytokine Signaling in Immune system (R-HSA-1280215) -3.740.007TNFRSF11A, TNFRSF11B, SQSTM1
TNFR2 non-canonical NF-kB pathway (R-HSA-5668541) -6.40.007TNFRSF11A, TNFRSF11B
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.184TNFRSF11A, TNFRSF11B, ZNF687, SQSTM1
cation binding (GO:0043169) 1.43TNFRSF11A, ZNF687, SQSTM1
metal ion binding (GO:0046872) 1.413TNFRSF11A, ZNF687, SQSTM1
protein binding (GO:0005515) 0.463TNFRSF11A, TNFRSF11B, SQSTM1
ion binding (GO:0043167) 1.363TNFRSF11A, ZNF687, SQSTM1
signaling receptor activity (GO:0038023) 2.492TNFRSF11A, TNFRSF11B
death receptor activity (GO:0005035) 6.562TNFRSF11A, TNFRSF11B
molecular transducer activity (GO:0060089) 2.322TNFRSF11A, TNFRSF11B
transmembrane signaling receptor activity (GO:0004888) 2.572TNFRSF11A, TNFRSF11B
receptor activity (GO:0004872) 2.322TNFRSF11A, TNFRSF11B
signal transducer activity (GO:0004871) 2.282TNFRSF11A, TNFRSF11B
receptor binding (GO:0005102) 2.432TNFRSF11B, SQSTM1
transmembrane receptor activity (GO:0099600) 2.532TNFRSF11A, TNFRSF11B
tumor necrosis factor-activated receptor activity (GO:0005031) 6.562TNFRSF11A, TNFRSF11B
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
regulation of primary metabolic process (GO:0080090) 1.084TNFRSF11A, TNFRSF11B, ZNF687, SQSTM1
regulation of metabolic process (GO:0019222) 1.024TNFRSF11A, TNFRSF11B, ZNF687, SQSTM1
regulation of macromolecule metabolic process (GO:0060255) 1.084TNFRSF11A, TNFRSF11B, ZNF687, SQSTM1
cellular process (GO:0009987) 0.264TNFRSF11A, TNFRSF11B, ZNF687, SQSTM1
regulation of cellular metabolic process (GO:0031323) 1.074TNFRSF11A, TNFRSF11B, ZNF687, SQSTM1
regulation of cellular process (GO:0050794) 0.54TNFRSF11A, TNFRSF11B, ZNF687, SQSTM1
biological regulation (GO:0065007) 0.394TNFRSF11A, TNFRSF11B, ZNF687, SQSTM1
regulation of biological process (GO:0050789) 0.454TNFRSF11A, TNFRSF11B, ZNF687, SQSTM1
regulation of RNA metabolic process (GO:0051252) 1.523TNFRSF11A, ZNF687, SQSTM1
regulation of phosphate metabolic process (GO:0019220) 2.353TNFRSF11A, TNFRSF11B, SQSTM1
positive regulation of metabolic process (GO:0009893) 1.743TNFRSF11A, TNFRSF11B, SQSTM1
regulation of cellular biosynthetic process (GO:0031326) 1.383TNFRSF11A, ZNF687, SQSTM1
positive regulation of cellular metabolic process (GO:0031325) 1.813TNFRSF11A, TNFRSF11B, SQSTM1
regulation of response to stimulus (GO:0048583) 1.543TNFRSF11A, TNFRSF11B, SQSTM1
signal transduction (GO:0007165) 1.283TNFRSF11A, TNFRSF11B, SQSTM1
regulation of signaling (GO:0023051) 1.723TNFRSF11A, TNFRSF11B, SQSTM1
regulation of cell communication (GO:0010646) 1.733TNFRSF11A, TNFRSF11B, SQSTM1
regulation of apoptotic process (GO:0042981) 2.53TNFRSF11A, TNFRSF11B, SQSTM1
single-organism process (GO:0044699) 0.483TNFRSF11A, TNFRSF11B, SQSTM1
regulation of cell death (GO:0010941) 2.433TNFRSF11A, TNFRSF11B, SQSTM1
positive regulation of macromolecule metabolic process (GO:0010604) 1.813TNFRSF11A, TNFRSF11B, SQSTM1
regulation of signal transduction (GO:0009966) 1.843TNFRSF11A, TNFRSF11B, SQSTM1
positive regulation of phosphorus metabolic process (GO:0010562) 2.783TNFRSF11A, TNFRSF11B, SQSTM1
regulation of protein metabolic process (GO:0051246) 1.933TNFRSF11A, TNFRSF11B, SQSTM1
positive regulation of protein metabolic process (GO:0051247) 2.433TNFRSF11A, TNFRSF11B, SQSTM1
regulation of programmed cell death (GO:0043067) 2.493TNFRSF11A, TNFRSF11B, SQSTM1
positive regulation of cellular protein metabolic process (GO:0032270) 2.493TNFRSF11A, TNFRSF11B, SQSTM1
regulation of protein modification process (GO:0031399) 2.323TNFRSF11A, TNFRSF11B, SQSTM1
positive regulation of biological process (GO:0048518) 1.23TNFRSF11A, TNFRSF11B, SQSTM1
regulation of biological quality (GO:0065008) 1.683TNFRSF11A, TNFRSF11B, SQSTM1
regulation of gene expression (GO:0010468) 1.373TNFRSF11A, ZNF687, SQSTM1
positive regulation of phosphate metabolic process (GO:0045937) 2.783TNFRSF11A, TNFRSF11B, SQSTM1
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.433TNFRSF11A, ZNF687, SQSTM1
regulation of biosynthetic process (GO:0009889) 1.373TNFRSF11A, ZNF687, SQSTM1
regulation of nucleic acid-templated transcription (GO:1903506) 1.553TNFRSF11A, ZNF687, SQSTM1
regulation of phosphorus metabolic process (GO:0051174) 2.353TNFRSF11A, TNFRSF11B, SQSTM1
response to stress (GO:0006950) 1.83TNFRSF11A, TNFRSF11B, SQSTM1
single-organism cellular process (GO:0044763) 0.653TNFRSF11A, TNFRSF11B, SQSTM1
regulation of nitrogen compound metabolic process (GO:0051171) 1.363TNFRSF11A, ZNF687, SQSTM1
regulation of RNA biosynthetic process (GO:2001141) 1.553TNFRSF11A, ZNF687, SQSTM1
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.463TNFRSF11A, ZNF687, SQSTM1
regulation of intracellular signal transduction (GO:1902531) 2.313TNFRSF11A, TNFRSF11B, SQSTM1
regulation of phosphorylation (GO:0042325) 2.53TNFRSF11A, TNFRSF11B, SQSTM1
positive regulation of phosphorylation (GO:0042327) 2.93TNFRSF11A, TNFRSF11B, SQSTM1
regulation of cellular protein metabolic process (GO:0032268) 1.993TNFRSF11A, TNFRSF11B, SQSTM1
response to stimulus (GO:0050896) 1.223TNFRSF11A, TNFRSF11B, SQSTM1
positive regulation of protein modification process (GO:0031401) 2.73TNFRSF11A, TNFRSF11B, SQSTM1
immune system process (GO:0002376) 2.293TNFRSF11A, TNFRSF11B, SQSTM1
regulation of transcription, DNA-templated (GO:0006355) 1.563TNFRSF11A, ZNF687, SQSTM1
regulation of macromolecule biosynthetic process (GO:0010556) 1.433TNFRSF11A, ZNF687, SQSTM1
regulation of protein phosphorylation (GO:0001932) 2.573TNFRSF11A, TNFRSF11B, SQSTM1
positive regulation of protein phosphorylation (GO:0001934) 2.953TNFRSF11A, TNFRSF11B, SQSTM1
positive regulation of cellular process (GO:0048522) 1.33TNFRSF11A, TNFRSF11B, SQSTM1
inflammatory response (GO:0006954) 3.642TNFRSF11A, TNFRSF11B
developmental process (GO:0032502) 1.362TNFRSF11A, TNFRSF11B
cytokine-mediated signaling pathway (GO:0019221) 3.62TNFRSF11A, TNFRSF11B
tumor necrosis factor-mediated signaling pathway (GO:0033209) 4.962TNFRSF11A, TNFRSF11B
apoptotic signaling pathway (GO:0097190) 4.122TNFRSF11A, TNFRSF11B
regulation of homeostatic process (GO:0032844) 3.652TNFRSF11A, TNFRSF11B
positive regulation of signaling (GO:0023056) 2.412TNFRSF11A, TNFRSF11B
cell surface receptor signaling pathway (GO:0007166) 2.092TNFRSF11A, TNFRSF11B
positive regulation of intracellular signal transduction (GO:1902533) 2.952TNFRSF11A, TNFRSF11B
response to lipopolysaccharide (GO:0032496) 4.032TNFRSF11A, TNFRSF11B
cell death (GO:0008219) 3.052TNFRSF11B, SQSTM1
positive regulation of cell communication (GO:0010647) 2.412TNFRSF11A, TNFRSF11B
cellular component organization or biogenesis (GO:0071840) 1.222TNFRSF11B, SQSTM1
regulation of MAPK cascade (GO:0043408) 3.222TNFRSF11A, TNFRSF11B
response to lipid (GO:0033993) 3.112TNFRSF11A, TNFRSF11B
cellular macromolecule metabolic process (GO:0044260) 0.932ZNF687, SQSTM1
positive regulation of signal transduction (GO:0009967) 2.52TNFRSF11A, TNFRSF11B
cellular component organization (GO:0016043) 1.242TNFRSF11B, SQSTM1
organic substance metabolic process (GO:0071704) 0.632ZNF687, SQSTM1
negative regulation of biological process (GO:0048519) 1.332TNFRSF11B, SQSTM1
regulation of cell proliferation (GO:0042127) 2.412TNFRSF11A, TNFRSF11B
positive regulation of response to stimulus (GO:0048584) 2.182TNFRSF11A, TNFRSF11B
primary metabolic process (GO:0044238) 0.692ZNF687, SQSTM1
apoptotic process (GO:0006915) 3.142TNFRSF11B, SQSTM1
defense response (GO:0006952) 2.782TNFRSF11A, TNFRSF11B
programmed cell death (GO:0012501) 3.12TNFRSF11B, SQSTM1
metabolic process (GO:0008152) 0.582ZNF687, SQSTM1
immune response (GO:0006955) 2.862TNFRSF11A, TNFRSF11B
response to chemical (GO:0042221) 1.982TNFRSF11A, TNFRSF11B
response to organic substance (GO:0010033) 2.22TNFRSF11A, TNFRSF11B
response to oxygen-containing compound (GO:1901700) 2.572TNFRSF11A, TNFRSF11B
positive regulation of MAPK cascade (GO:0043410) 3.572TNFRSF11A, TNFRSF11B
response to biotic stimulus (GO:0009607) 3.092TNFRSF11A, TNFRSF11B
response to external biotic stimulus (GO:0043207) 3.132TNFRSF11A, TNFRSF11B
response to external stimulus (GO:0009605) 2.552TNFRSF11A, TNFRSF11B
anatomical structure development (GO:0048856) 1.582TNFRSF11A, TNFRSF11B
cellular metabolic process (GO:0044237) 0.692ZNF687, SQSTM1
macromolecule metabolic process (GO:0043170) 0.832ZNF687, SQSTM1
regulation of multicellular organismal process (GO:0051239) 1.872TNFRSF11A, TNFRSF11B
response to molecule of bacterial origin (GO:0002237) 3.992TNFRSF11A, TNFRSF11B
cellular developmental process (GO:0048869) 1.822TNFRSF11A, SQSTM1
cell differentiation (GO:0030154) 2.142TNFRSF11A, SQSTM1

NET-GE enrichment

Term New enriched termICP valueGenes
positive regulation of response to external stimulus (GO:0032103) NEW4.170.039TNFRSF11A, TNFRSF11B, SQSTM1
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
cell part (GO:0044464) 0.114TNFRSF11A, TNFRSF11B, ZNF687, SQSTM1
intracellular membrane-bounded organelle (GO:0043231) 0.62ZNF687, SQSTM1
plasma membrane part (GO:0044459) 1.952TNFRSF11A, TNFRSF11B
intrinsic component of plasma membrane (GO:0031226) 2.532TNFRSF11A, TNFRSF11B
integral component of membrane (GO:0016021) 1.142TNFRSF11A, TNFRSF11B
membrane (GO:0016020) 0.682TNFRSF11A, TNFRSF11B
extracellular region part (GO:0044421) 1.572TNFRSF11B, SQSTM1
intracellular organelle (GO:0043229) 0.512ZNF687, SQSTM1
integral component of plasma membrane (GO:0005887) 2.572TNFRSF11A, TNFRSF11B
plasma membrane (GO:0005886) 1.392TNFRSF11A, TNFRSF11B
intracellular part (GO:0044424) 0.282ZNF687, SQSTM1
membrane part (GO:0044425) 0.952TNFRSF11A, TNFRSF11B
nucleus (GO:0005634) 1.072ZNF687, SQSTM1
membrane-bounded organelle (GO:0043227) 0.472ZNF687, SQSTM1
organelle (GO:0043226) 0.42ZNF687, SQSTM1
intrinsic component of membrane (GO:0031224) 1.132TNFRSF11A, TNFRSF11B