Disease table of INTERVERTEBRAL DISC DISEASE OMIM ID: 603932

Gene-disease associations table

GeneAssociated with INTERVERTEBRAL DISC DISEASE inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
COL11A1OMIMHGNC link1p21.14154780, 603932, PS228520, PS108300
COL9A2OMIM, HUMSAVARHGNC link1p34.23PS132400, PS108300, 603932
ASPNOMIMHGNC link9q22.312607850, 603932
THBS2OMIMHGNC link6q271603932
COL9A3OMIMHGNC link20q13.332PS132400, 603932
CILPOMIMHGNC link15q22.311603932

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
1p2COL9A2, COL11A1
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
12COL9A2, COL11A1
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
COL11A1YES1CEBPZ0
ASPNYES1SP10
THBS2YES1HOXB70
Interactions from BIOGRID - physical
Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
COL11A1COL9A2Yesreaction35COL24A1, COL8A1, COL14A1, COL7A1, COL12A1, COL22A1, COL4A6, ITGA11, COL2A1, ITGB1, COL21A1, COL5A3, COL4A2, COL19A1, COL20A1, COL23A1, COL18A1, COL15A1, COL6A1, COL13A1, COL28A1, COL25A1, COL27A1, COL4A1, COL16A1, COL9A1, COL6A2, COL9A3, COL17A1, COL4A5, COL10A1, COL8A2, COL6A3, COL5A1, COL5A2
COL11A1THBS2No-21ITGA9, ITGAV, ITGB8, ITGA6, ITGA8, ITGA5, ITGA7, ITGB5, ITGA3, SDC4, PTK2, ITGA1, SDC1, ITGA4, ITGA11, ITGB1, ITGB7, ITGB6, ITGB4, ITGA2, ITGA2B
COL11A1COL9A3Yesreaction35COL24A1, COL8A1, COL14A1, COL7A1, COL12A1, COL22A1, COL4A6, COL9A1, ITGA11, COL2A1, ITGB1, COL21A1, COL5A3, COL4A2, COL19A1, COL20A1, COL23A1, COL18A1, COL15A1, COL6A1, COL13A1, COL28A1, COL25A1, COL27A1, COL4A1, COL16A1, COL9A2, COL6A2, COL5A2, COL17A1, COL4A5, COL10A1, COL8A2, COL5A1, COL6A3
COL9A2THBS2No-2ITGA11, ITGB1
COL9A2COL9A3Yesbinding35COL24A1, COL8A1, COL14A1, COL7A1, COL12A1, COL11A1, COL4A6, ITGA11, COL2A1, ITGB1, COL21A1, COL5A3, COL4A2, COL19A1, COL20A1, COL23A1, COL18A1, COL15A1, COL6A1, COL13A1, COL28A1, COL25A1, COL27A1, COL4A1, COL16A1, COL9A1, COL22A1, COL6A2, COL5A2, COL17A1, COL4A5, COL10A1, COL8A2, COL5A1, COL6A3
THBS2COL9A3No-2ITGA11, ITGB1

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

Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Gene1Gene2InteractionNumber of common interactorsCommon genes in interaction
COL9A2COL9A3Yes5COL9A2, COL9A3, COL1A2, COL9A1, COL1A1

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

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
Protein digestion and absorptionhsa049746.23COL11A1, COL9A2, COL9A3
ECM-receptor interactionhsa045126.092COL11A1, THBS2
Focal adhesionhsa045104.922COL11A1, THBS2
PI3K-Akt signaling pathwayhsa041514.212COL11A1, THBS2

NET-GE enrichment

Term New enriched termICP valueGenes
ECM-receptor interaction (hsa04512) -6.090.025COL11A1, THBS2
Digestive systemNEW4.120.014COL11A1, COL9A2, COL9A3
Protein digestion and absorption (hsa04974) -6.20.001COL11A1, COL9A2, COL9A3
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Extracellular matrix organizationR-HSA-14742444.914COL11A1, COL9A3, ASPN, COL9A2
Degradation of the extracellular matrixR-HSA-14742286.113COL11A1, COL9A2, COL9A3
Collagen degradationR-HSA-14424907.033COL11A1, COL9A2, COL9A3
ECM proteoglycansR-HSA-30001786.753COL9A3, ASPN, COL9A2
Collagen formationR-HSA-14742906.563COL11A1, COL9A2, COL9A3
Signaling by PDGFR-HSA-1867974.533COL9A3, THBS2, COL9A2
Collagen biosynthesis and modifying enzymesR-HSA-16508146.983COL11A1, COL9A2, COL9A3
Signal TransductionR-HSA-1625821.783COL9A3, COL9A2, THBS2
Integrin cell surface interactionsR-HSA-2160836.572COL9A2, COL9A3
NCAM signaling for neurite out-growthR-HSA-3751654.92COL9A2, COL9A3
NCAM1 interactionsR-HSA-4190377.592COL9A2, COL9A3
Axon guidanceR-HSA-4224753.932COL9A2, COL9A3
Developmental BiologyR-HSA-12667383.482COL9A2, COL9A3

NET-GE enrichment

Term New enriched termICP valueGenes
Integrin cell surface interactions (R-HSA-216083) -6.570.021COL9A2, COL9A3
Degradation of the extracellular matrix (R-HSA-1474228) -6.110.001COL11A1, COL9A2, COL9A3
Collagen degradation (R-HSA-1442490) -7.030.0COL11A1, COL9A2, COL9A3
ECM proteoglycans (R-HSA-3000178) -6.750.001COL9A3, ASPN, COL9A2
NCAM1 interactions (R-HSA-419037) -7.590.005COL9A2, COL9A3
Extracellular matrix organization (R-HSA-1474244) -4.910.0COL11A1, COL9A3, ASPN, COL9A2
Collagen formation (R-HSA-1474290) -6.560.0COL11A1, COL9A2, COL9A3
Signaling by PDGF (R-HSA-186797) -4.530.015COL9A3, COL9A2, THBS2
Collagen biosynthesis and modifying enzymes (R-HSA-1650814) -6.980.0COL11A1, COL9A2, COL9A3
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cation binding (GO:0043169) 1.43COL11A1, ASPN, THBS2
extracellular matrix structural constituent (GO:0005201) 5.373COL11A1, COL9A2, COL9A3
structural molecule activity (GO:0005198) 3.13COL11A1, COL9A2, COL9A3
ion binding (GO:0043167) 1.363COL11A1, ASPN, THBS2
binding (GO:0005488) 0.183COL11A1, ASPN, THBS2
protein binding (GO:0005515) 0.463COL11A1, ASPN, THBS2
metal ion binding (GO:0046872) 1.413COL11A1, ASPN, THBS2
calcium ion binding (GO:0005509) 3.172ASPN, THBS2
extracellular matrix structural constituent conferring tensile strength (GO:0030020) 7.952COL9A2, COL9A3

NET-GE enrichment

Term New enriched termICP valueGenes
extracellular matrix structural constituent (GO:0005201) -5.370.0COL11A1, COL9A2, COL9A3
structural molecule activity (GO:0005198) -3.10.011COL11A1, COL9A2, COL9A3
extracellular matrix structural constituent conferring tensile strength (GO:0030020) -7.950.0COL9A2, COL9A3
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
developmental process (GO:0032502) 1.364COL11A1, COL9A3, ASPN, COL9A2
anatomical structure development (GO:0048856) 1.584COL11A1, COL9A3, ASPN, COL9A2
cellular process (GO:0009987) 0.263COL11A1, COL9A2, COL9A3
single-organism cellular process (GO:0044763) 0.653COL11A1, COL9A2, COL9A3
cellular component organization (GO:0016043) 1.243COL11A1, COL9A2, COL9A3
regulation of cellular process (GO:0050794) 0.53ASPN, THBS2, CILP
extracellular matrix organization (GO:0030198) 4.013COL11A1, COL9A2, COL9A3
biological regulation (GO:0065007) 0.393ASPN, THBS2, CILP
single-organism process (GO:0044699) 0.483COL11A1, COL9A2, COL9A3
extracellular structure organization (GO:0043062) 4.03COL11A1, COL9A2, COL9A3
negative regulation of biological process (GO:0048519) 1.333ASPN, THBS2, CILP
regulation of biological process (GO:0050789) 0.453ASPN, THBS2, CILP
cellular component organization or biogenesis (GO:0071840) 1.223COL11A1, COL9A2, COL9A3
negative regulation of developmental process (GO:0051093) 3.172ASPN, THBS2
negative regulation of signal transduction (GO:0009968) 2.752ASPN, CILP
regulation of anatomical structure morphogenesis (GO:0022603) 2.792ASPN, THBS2
regulation of signal transduction (GO:0009966) 1.842ASPN, CILP
negative regulation of response to stimulus (GO:0048585) 2.522ASPN, CILP
negative regulation of multicellular organismal process (GO:0051241) 2.842ASPN, THBS2
regulation of response to stimulus (GO:0048583) 1.542ASPN, CILP
tissue development (GO:0009888) 3.272COL11A1, ASPN
single-organism developmental process (GO:0044767) 1.492COL11A1, COL9A3
regulation of developmental process (GO:0050793) 2.12ASPN, THBS2
animal organ development (GO:0048513) 2.532COL11A1, COL9A3
regulation of multicellular organismal development (GO:2000026) 2.312ASPN, THBS2
negative regulation of cell communication (GO:0010648) 2.662ASPN, CILP
regulation of multicellular organismal process (GO:0051239) 1.872ASPN, THBS2
regulation of signaling (GO:0023051) 1.722ASPN, CILP
regulation of cell communication (GO:0010646) 1.732ASPN, CILP
negative regulation of signaling (GO:0023057) 2.652ASPN, CILP
negative regulation of cellular process (GO:0048523) 1.412ASPN, CILP

NET-GE enrichment

Term New enriched termICP valueGenes
extracellular structure organization (GO:0043062) -4.00.02COL11A1, COL9A2, COL9A3
collagen catabolic process (GO:0030574) NEW5.570.0COL11A1, COL9A2, COL9A3
multicellular organismal metabolic process (GO:0044236) NEW5.20.0COL11A1, COL9A2, COL9A3
extracellular matrix organization (GO:0030198) -4.010.02COL11A1, COL9A2, COL9A3
cellular component disassembly (GO:0022411) NEW3.520.018COL11A1, COL9A2, COL9A3
multicellular organismal macromolecule metabolic process (GO:0044259) NEW5.360.006COL11A1, COL9A2, COL9A3
collagen metabolic process (GO:0032963) NEW5.420.0COL11A1, COL9A2, COL9A3
multicellular organismal catabolic process (GO:0044243) NEW5.470.005COL11A1, COL9A2, COL9A3
extracellular matrix disassembly (GO:0022617) NEW5.380.021COL11A1, COL9A2, COL9A3
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
extracellular region part (GO:0044421) 1.576COL9A3, CILP, COL11A1, ASPN, COL9A2, THBS2
extracellular region (GO:0005576) 2.186COL9A3, CILP, COL11A1, ASPN, COL9A2, THBS2
proteinaceous extracellular matrix (GO:0005578) 4.016COL9A3, CILP, COL11A1, ASPN, COL9A2, THBS2
extracellular matrix (GO:0031012) 3.816COL9A3, CILP, COL11A1, ASPN, COL9A2, THBS2
intracellular part (GO:0044424) 0.285COL11A1, COL9A3, COL9A2, ASPN, THBS2
cell part (GO:0044464) 0.115COL9A2, COL11A1, THBS2, ASPN, COL9A3
cytoplasmic part (GO:0044444) 0.824COL11A1, COL9A3, COL9A2, THBS2
protein complex (GO:0043234) 1.513COL11A1, COL9A2, COL9A3
macromolecular complex (GO:0032991) 1.353COL11A1, COL9A2, COL9A3
collagen trimer (GO:0005581) 5.213COL11A1, COL9A2, COL9A3
organelle lumen (GO:0043233) 3.053COL11A1, COL9A2, COL9A3
endoplasmic reticulum lumen (GO:0005788) 4.53COL11A1, COL9A2, COL9A3
intracellular organelle part (GO:0044446) 0.813COL11A1, COL9A2, COL9A3
endoplasmic reticulum part (GO:0044432) 2.733COL11A1, COL9A2, COL9A3
intracellular organelle lumen (GO:0070013) 3.053COL11A1, COL9A2, COL9A3
membrane-enclosed lumen (GO:0031974) 3.053COL11A1, COL9A2, COL9A3
organelle part (GO:0044422) 0.793COL11A1, COL9A2, COL9A3
vesicle (GO:0031982) 1.642THBS2, CILP
extracellular matrix component (GO:0044420) 4.972COL11A1, THBS2
membrane-bounded vesicle (GO:0031988) 1.712THBS2, CILP
FACIT collagen trimer (GO:0005593) 8.012COL9A2, COL9A3
membrane-bounded organelle (GO:0043227) 0.472THBS2, CILP
organelle (GO:0043226) 0.42THBS2, CILP
collagen type IX trimer (GO:0005594) 8.72COL9A2, COL9A3

NET-GE enrichment

Term New enriched termICP valueGenes
collagen trimer (GO:0005581) -5.210.0COL11A1, COL9A2, COL9A3
organelle lumen (GO:0043233) -3.050.026COL11A1, COL9A2, COL9A3
proteinaceous extracellular matrix (GO:0005578) -4.010.0COL9A3, ASPN, COL9A2, CILP
endoplasmic reticulum lumen (GO:0005788) -4.50.022COL11A1, COL9A2, COL9A3
extracellular matrix (GO:0031012) -3.810.0COL9A2, COL9A3, THBS2, ASPN, CILP
intracellular organelle lumen (GO:0070013) -3.050.02COL11A1, COL9A2, COL9A3
extracellular region (GO:0005576) -2.180.024COL11A1, COL9A3, COL9A2, THBS2
membrane-enclosed lumen (GO:0031974) -3.050.034COL11A1, COL9A2, COL9A3
FACIT collagen trimer (GO:0005593) -8.010.0COL9A2, COL9A3
extracellular matrix part (GO:0044420) -4.970.026COL11A1, THBS2
extracellular region part (GO:0044421) -1.570.002COL9A3, CILP, COL11A1, ASPN, COL9A2, THBS2
collagen type IX trimer (GO:0005594) -8.70.0COL9A2, COL9A3