Disease table of FIBROCHONDROGENESIS OMIM ID: PS228520

Gene-disease associations table

GeneAssociated with FIBROCHONDROGENESIS inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
COL11A1ClinVar, OMIM, HUMSAVARHGNC link1p21.14154780, 603932, PS228520, PS108300
COL11A2OMIMHGNC link6p21.326PS108300, PS220290, 215150, 277610, PS124900, PS228520

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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
COL11A1YES1CEBPZ0
COL11A2YES7SP1, SP7, SOX9, ERG, SP3, EWSR1, SOX100
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
Gene1Gene2Direct interactionMore information
COL11A1COL11A2yes, complexThey are trimers composed of three different chains: alpha 1(XI), alpha 2(XI), and alpha 3(XI). [UniProt]
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Protein digestion and absorptionhsa049746.22COL11A1, COL11A2
ECM-receptor interactionhsa045126.092COL11A1, COL11A2
Focal adhesionhsa045104.922COL11A1, COL11A2
Amoebiasishsa051465.822COL11A1, COL11A2
Platelet activationhsa046115.662COL11A1, COL11A2
PI3K-Akt signaling pathwayhsa041514.212COL11A1, COL11A2

NET-GE enrichment

Term New enriched termICP valueGenes
Protein digestion and absorption (hsa04974) -6.20.003COL11A1, COL11A2
Infectious diseases: ParasiticNEW4.460.035COL11A1, COL11A2
ECM-receptor interaction (hsa04512) -6.090.004COL11A1, COL11A2
Focal adhesion (hsa04510) -4.920.038COL11A1, COL11A2
Amoebiasis (hsa05146) -5.820.005COL11A1, COL11A2
Platelet activation (hsa04611) -5.660.007COL11A1, COL11A2
PI3K-Akt signaling pathway (hsa04151) -4.210.05COL11A1, COL11A2
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Degradation of the extracellular matrixR-HSA-14742286.112COL11A1, COL11A2
Collagen degradationR-HSA-14424907.032COL11A1, COL11A2
Extracellular matrix organizationR-HSA-14742444.912COL11A1, COL11A2
Collagen formationR-HSA-14742906.562COL11A1, COL11A2
Non-integrin membrane-ECM interactionsR-HSA-30001717.12COL11A1, COL11A2
Collagen biosynthesis and modifying enzymesR-HSA-16508146.982COL11A1, COL11A2
Assembly of collagen fibrils and other multimeric structuresR-HSA-20220907.22COL11A1, COL11A2

NET-GE enrichment

Term New enriched termICP valueGenes
Degradation of the extracellular matrix (R-HSA-1474228) -6.110.005COL11A1, COL11A2
Collagen degradation (R-HSA-1442490) -7.030.001COL11A1, COL11A2
Extracellular matrix organization (R-HSA-1474244) -4.910.027COL11A1, COL11A2
Collagen formation (R-HSA-1474290) -6.560.001COL11A1, COL11A2
Non-integrin membrane-ECM interactions (R-HSA-3000171) -7.10.001COL11A1, COL11A2
Assembly of collagen fibrils and other multimeric structures (R-HSA-2022090) -7.20.0COL11A1, COL11A2
Collagen biosynthesis and modifying enzymes (R-HSA-1650814) -6.980.0COL11A1, COL11A2
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cation binding (GO:0043169) 1.42COL11A1, COL11A2
extracellular matrix structural constituent (GO:0005201) 5.372COL11A1, COL11A2
metal ion binding (GO:0046872) 1.412COL11A1, COL11A2
protein binding, bridging (GO:0030674) 4.682COL11A1, COL11A2
ion binding (GO:0043167) 1.362COL11A1, COL11A2
binding (GO:0005488) 0.182COL11A1, COL11A2
protein binding (GO:0005515) 0.462COL11A1, COL11A2
structural molecule activity (GO:0005198) 3.12COL11A1, COL11A2
binding, bridging (GO:0060090) 4.572COL11A1, COL11A2

NET-GE enrichment

Term New enriched termICP valueGenes
binding, bridging (GO:0060090) -4.570.01COL11A1, COL11A2
extracellular matrix structural constituent (GO:0005201) -5.370.001COL11A1, COL11A2
protein binding, bridging (GO:0030674) -4.680.001COL11A1, COL11A2
structural molecule activity (GO:0005198) -3.10.018COL11A1, COL11A2
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
developmental process (GO:0032502) 1.362COL11A1, COL11A2
multicellular organismal macromolecule metabolic process (GO:0044259) 5.362COL11A1, COL11A2
macromolecular complex subunit organization (GO:0043933) 2.142COL11A1, COL11A2
cell differentiation (GO:0030154) 2.142COL11A1, COL11A2
macromolecule metabolic process (GO:0043170) 0.832COL11A1, COL11A2
collagen metabolic process (GO:0032963) 5.422COL11A1, COL11A2
multicellular organism catabolic process (GO:0044243) 5.472COL11A1, COL11A2
cellular component organization or biogenesis (GO:0071840) 1.222COL11A1, COL11A2
single-organism catabolic process (GO:0044712) 3.212COL11A1, COL11A2
single-organism metabolic process (GO:0044710) 1.632COL11A1, COL11A2
anatomical structure morphogenesis (GO:0009653) 2.532COL11A1, COL11A2
protein complex subunit organization (GO:0071822) 2.62COL11A1, COL11A2
cellular developmental process (GO:0048869) 1.822COL11A1, COL11A2
cellular component organization (GO:0016043) 1.242COL11A1, COL11A2
organic substance metabolic process (GO:0071704) 0.632COL11A1, COL11A2
animal organ development (GO:0048513) 2.532COL11A1, COL11A2
single-organism process (GO:0044699) 0.482COL11A1, COL11A2
extracellular structure organization (GO:0043062) 4.02COL11A1, COL11A2
sensory perception of mechanical stimulus (GO:0050954) 4.792COL11A1, COL11A2
skeletal system morphogenesis (GO:0048705) 4.982COL11A1, COL11A2
organ morphogenesis (GO:0009887) 3.552COL11A1, COL11A2
multicellular organismal process (GO:0032501) 1.452COL11A1, COL11A2
sensory perception of sound (GO:0007605) 4.822COL11A1, COL11A2
neurological system process (GO:0050877) 2.642COL11A1, COL11A2
cellular process (GO:0009987) 0.262COL11A1, COL11A2
sensory perception (GO:0007600) 2.932COL11A1, COL11A2
single-organism developmental process (GO:0044767) 1.492COL11A1, COL11A2
single-organism cellular process (GO:0044763) 0.652COL11A1, COL11A2
metabolic process (GO:0008152) 0.582COL11A1, COL11A2
catabolic process (GO:0009056) 2.382COL11A1, COL11A2
system process (GO:0003008) 2.32COL11A1, COL11A2
cartilage development (GO:0051216) 5.312COL11A1, COL11A2
single-multicellular organism process (GO:0044707) 1.782COL11A1, COL11A2
anatomical structure development (GO:0048856) 1.582COL11A1, COL11A2
collagen catabolic process (GO:0030574) 5.572COL11A1, COL11A2
multicellular organism metabolic process (GO:0044236) 5.22COL11A1, COL11A2
collagen fibril organization (GO:0030199) 6.072COL11A1, COL11A2
extracellular matrix organization (GO:0030198) 4.012COL11A1, COL11A2

NET-GE enrichment

Term New enriched termICP valueGenes
sensory perception of sound (GO:0007605) -4.820.004COL11A1, COL11A2
sensory perception of mechanical stimulus (GO:0050954) -4.790.004COL11A1, COL11A2
extracellular structure organization (GO:0043062) -4.00.032COL11A1, COL11A2
multicellular organismal metabolic process (GO:0044236) -5.20.002COL11A1, COL11A2
collagen catabolic process (GO:0030574) -5.570.007COL11A1, COL11A2
cellular component disassembly (GO:0022411) NEW3.520.03COL11A1, COL11A2
collagen fibril organization (GO:0030199) -6.070.0COL11A1, COL11A2
multicellular organismal macromolecule metabolic process (GO:0044259) -5.360.011COL11A1, COL11A2
collagen metabolic process (GO:0032963) -5.420.002COL11A1, COL11A2
multicellular organismal catabolic process (GO:0044243) -5.470.009COL11A1, COL11A2
extracellular matrix disassembly (GO:0022617) NEW5.380.026COL11A1, COL11A2
extracellular matrix organization (GO:0030198) -4.010.032COL11A1, COL11A2
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
protein complex (GO:0043234) 1.512COL11A1, COL11A2
macromolecular complex (GO:0032991) 1.352COL11A1, COL11A2
collagen trimer (GO:0005581) 5.212COL11A1, COL11A2
fibrillar collagen trimer (GO:0005583) 7.322COL11A1, COL11A2
extracellular region part (GO:0044421) 1.572COL11A1, COL11A2
organelle lumen (GO:0043233) 3.052COL11A1, COL11A2
cell part (GO:0044464) 0.112COL11A1, COL11A2
membrane-enclosed lumen (GO:0031974) 3.052COL11A1, COL11A2
extracellular matrix (GO:0031012) 3.812COL11A1, COL11A2
intracellular organelle part (GO:0044446) 0.812COL11A1, COL11A2
endoplasmic reticulum part (GO:0044432) 2.732COL11A1, COL11A2
cytoplasmic part (GO:0044444) 0.822COL11A1, COL11A2
intracellular organelle lumen (GO:0070013) 3.052COL11A1, COL11A2
endoplasmic reticulum lumen (GO:0005788) 4.52COL11A1, COL11A2
intracellular part (GO:0044424) 0.282COL11A1, COL11A2
collagen type XI trimer (GO:0005592) 9.112COL11A1, COL11A2
extracellular matrix component (GO:0044420) 4.972COL11A1, COL11A2
proteinaceous extracellular matrix (GO:0005578) 4.012COL11A1, COL11A2
organelle part (GO:0044422) 0.792COL11A1, COL11A2
extracellular region (GO:0005576) 2.182COL11A1, COL11A2

NET-GE enrichment

Term New enriched termICP valueGenes
collagen trimer (GO:0005581) -5.210.002COL11A1, COL11A2
fibrillar collagen trimer (GO:0005583) -7.320.0COL11A1, COL11A2
organelle lumen (GO:0043233) -3.050.021COL11A1, COL11A2
endoplasmic reticulum lumen (GO:0005788) -4.50.002COL11A1, COL11A2
intracellular organelle lumen (GO:0070013) -3.050.017COL11A1, COL11A2
membrane-enclosed lumen (GO:0031974) -3.050.025COL11A1, COL11A2
collagen type XI trimer (GO:0005592) -9.110.0COL11A1, COL11A2
extracellular matrix part (GO:0044420) -4.970.001COL11A1, COL11A2