Disease table of STICKLER SYNDROME OMIM ID: PS108300

Gene-disease associations table

GeneAssociated with STICKLER SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
COL9A2OMIMHGNC link1p34.23PS132400, PS108300, 603932
COL2A1ClinVar, OMIM, HUMSAVARHGNC link12q13.1114616583, 150600, PS108300, 132450, 271700, 609162, 184250, 604864, 215150, 608805, 183900, PS200600, 151210, 156550
COL11A1ClinVar, OMIM, HUMSAVARHGNC link1p21.14154780, 603932, PS228520, PS108300
COL11A2ClinVar, OMIMHGNC link6p21.326PS108300, PS220290, 215150, 277610, PS124900, PS228520
COL9A1ClinVar, OMIMHGNC link6q132PS132400, PS108300

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
62COL9A1, COL11A2
Transcription Factors (TF) annotation from TRRUST
TFassociated to this disease# regulated genesRegulated genes# regulated genes associated with this diseaseRegulated genes associated with this disease
SP1NO460ITGB3, KRT14, CDK4, UGCG, PGR, GAST, PSIP1, ITGA5, PTHLH, ITGB2, CD44, HLA-G, LTF, IGFBP4, NF1, ACVRL1, GSTP1, CYP2F1, CA9, MMRN1, HSD17B2, STK11, FGFR3, CD28, UGT1A4, FASLG, DNASE2, KRT19, SLC39A1, ALOX5, PDGFB, PTGS2, CYP7A1, TNF, TPMT, HSD11B2, FMR1, CHI3L1, PCK1, DMRT1, RARA, RASSF1, CYP3A7, BRD7, CYP17A1, LPL, CXADR, PADI3, ABCA1, NR5A1, COL11A2, IRF5, XIAP, BACE1, STAR, TBX21, BSG, APP, MDM2, COMP, ALOX12, CHRNB4, SNAP25, MTA1, CCK, DDB2, CIC, ACAN, KIT, MAT2A, SERPINB5, CDH2, ICAM1, SLC29A1, USP7, SLC5A8, HTR1A, REST, IGF2, APOC3, APAF1, ABCG2, IFNGR1, CRMP1, SLC7A5, PDGFC, HNF4A, ATP2C1, MICA, EAPP, TNFRSF10B, KRT5, MACROD1, ERVW-1, CD151, ELF4, MMP28, POLD2, DNMT1, MAOB, CBS, E2F1, KCNQ3, COL18A1, HIST2H4A, RPS3A, IL10, C4A, CYP3A5, ST6GAL1, CD99, BCL2, SLC15A1, IL6, ADAM10, KRT16, POLE2, MUC6, CBFB, ACO1, DCK, CAV1, MIF, DNMT3A, HMGA2, PDIA2, B4GALT1, GJA1, PPL, SLC13A4, AGTR1, PTGIR, CETP, SLC2A2, CYP27A1, F2R, BLMH, ADIPOQ, CENPH, OPRM1, BAG2, MPO, WRN, CDK6, PTTG1, YY1, CD2AP, TBXA2R, TGM4, PRSS50, HSD17B11, HCN2, MYCN, F3, ID4, CDKN1A, SLC5A1, SERPINE1, C1QBP, SOX3, EGR1, TF, RETN, SYP, RORA, NDUFV1, C4B, SNAPC1, TGFBR2, MME, GATA3, DPYSL2, CXCL14, SPRY2, ABCB8, COX4I1, SCTR, UGDH, HBEGF, PLAT, FOS, XPC, MUC5AC, HYAL1, BRCA1, NOS1, KCTD11, HCN4, ASPN, OXTR, COL1A1, TLR2, ALOX15B, ITGAV, IL5, SLC9A2, SIRT1, FGL2, KLF8, KCNQ2, UGT2B15, FOXM1, TEC, CHST4, TINF2, SLC19A3, KIF2C, ADAM23, PTGES, DNMT3B, GCLC, THBD, GFER, ADRBK1, TGFB1, SLC25A20, TK1, PRM1, CXCL1, APOE, PDE6A, TICAM1, KCNH2, TERF2, CENPW, NFKB1, ITGA2, PCYT1A, SIGIRR, IRS2, SP3, GIPR, SCNN1B, PTN, PTEN, NDUFV2, INSR, AGT, ME1, ATP2A2, HAS2, CYP19A1, HTT, MAT2B, PRNP, MNDA, SLC9A3, ADAM17, BAX, SLC3A2, UTRN, SPN, PAX6, SMARCA1, IL2, CREM, MMP9, ENG, CHGA, MUC4, ESR1, AHR, ATM, NFKB2, COL7A1, CD97, EPO, TFPI2, POR, DRG2, ELMO3, CAT, CYP3A4, LOXL4, BDKRB1, WAS, PNOC, LDHC, ADH6, CDC42BPG, NKX2-1, CYP1B1, TAF7, PLAUR, MMP2, MMP11, APLNR, UBC, GM2A, FGFR1, PLAA, TIMP1, TNFSF14, PTK6, KISS1, CDKN2B, COL2A1, BTK, ITGAX, HBZ, CREB1, MMP14, MICB, LEP, FOLR1, ATP2A3, SNRPN, ADA, PSEN1, SPP1, TNNI3, NOL7, VEGFA, CSNK2A1, VAMP2, NQO2, LOR, EPOR, HSD3B1, ISG20, MET, F10, CD1D, FBLN1, APLP1, CCL5, FAS, ERBB2, COPS5, MYBL1, RECQL4, CD83, SOD1, HOXB7, WIF1, SLC39A8, CES1, IL5RA, APEX1, ITGAD, TNC, KDR, CLDN3, NR4A1, MYC, RELA, RECK, PGLYRP2, LRP5, MYBL2, ADRA2B, VIM, EGFR, GDA, SOD2, FES, LDHA, CD14, AMACR, IGFBP1, SLC19A1, IMPDH2, PDE6B, LCAT, PPP2R2B, FBN1, CERS2, EPAS1, KLK3, FLNA, CCL2, HMGA1, BACE2, EDNRB, FABP6, HPR, IGFBP3, PON1, APOA1, NPY, B4GALT5, FXR2, CCND2, STARD3, IL2RB, DDB1, SQSTM1, TERT, HGF, TNFSF10, KRT18, TYMP, MUC2, MPG, ABCC3, HDAC4, TCN2, TYMS, DBF4, CASP3, SGPL1, GH2, EGF, CCND1, GPR39, IVL, AR, NT5E, LYZ, SMPD1, PHGDH, CDKN2A, MGST1, CCNA2, POLD1, NOS3, ABCB1, DHCR24, LDLR, HSD17B1, SOCS1, FBP1, LTC4S, CTSL, BIRC5, HRAS, PDHA1, TIMP2, P4HA1, TMPO, ARF6, CDKN1B, SLC31A1, SOX9, PLAU, RGN, CTSB, EZR, TIMP3, F7, SREBF1, SKP2, SCT, VDR, ADRB3, CXCL5, LMO4, CD163, MCTS1, ATF2, CTGF, SRC, P2RX4, TGFA, IL3, CYP7B1, ADRA1A, GRIN1, SRY, ODC12COL2A1, COL11A2
SP3NO109DNASE2, ATP2A2, VEGFA, ID4, LPL, BPI, CHRNB4, TFF2, CD14, SLC9A3, IGFBP1, CYP27A1, F2R, IGFBP4, CA9, LCAT, CBS, CENPH, NKX2-1, KLK3, EPAS1, HMGA2, CETP, DNMT3A, HSD17B2, FBLN1, YY1, CD2AP, TGM4, FGFR3, SLC1A3, MYCN, CDKN1A, CD97, IGFBP3, ETF1, CDKN2B, GIPR, SOCS3, CYP2F1, FMR1, HGF, FOXP3, TYMP, COL2A1, MUC2, DMRT1, TIMP1, HDAC4, RASSF1, TCN2, CYP3A7, PLAUR, NOX4, CYP17A1, SOX18, PADI3, UBC, TPMT, ABCA1, ALOX12, COL11A2, OPRM1, PLAT, HBEGF, CDKN2A, BSG, MSH6, RORA, NOS3, MUC4, CCND1, SCTR, FBP1, LTC4S, CTSL, BIRC5, AGTR1, MAT2A, TIMP2, CDH2, COL1A1, TFF1, ITGAV, SLC9A2, LOR, BTK, MET, EAPP, SLC19A3, MMP2, CTSB, TRA, KDR, DNMT3B, ITGA2, MICB, ERBB2, ACE, MAOB, SCT, CD83, HOXB7, UTRN, CYP3A5, ITGAD, LECT1, ALPL, MUC62COL2A1, COL11A2
SOX9NO25SF1, AR, COL11A2, RET, RXFP2, NR5A1, CDK4, BEST1, DCT, TYR, COL2A1, KLF4, MIA, DCC, PRAME, SOX10, CDKN1A, NES, HES1, CEACAM1, MITF, AMH, SHH, POU3F2, ETV22COL2A1, COL11A2
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
COL2A1YES6SP1, SOX9, SPEN, RELA, SP3, NFKB10
COL11A1YES1CEBPZ0
COL11A2YES7SP1, SP7, SOX9, ERG, SP3, EWSR1, SOX100
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
COL2A1COL9A1Yes1MAG

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
COL9A2COL2A1Yesreaction, binding35COL24A1, COL8A1, COL14A1, COL7A1, COL12A1, COL11A1, COL4A6, ITGA11, COL25A1, ITGB1, COL21A1, COL4A2, COL19A1, COL20A1, COL23A1, COL18A1, COL15A1, COL6A1, COL13A1, COL28A1, COL5A3, COL27A1, COL4A1, COL16A1, COL9A1, COL22A1, COL6A2, COL9A3, COL17A1, COL4A5, COL10A1, COL8A2, COL6A3, COL5A1, COL5A2
COL9A2COL11A1Yesreaction35COL24A1, 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
COL9A2COL9A1Yesbinding35COL24A1, COL8A1, COL14A1, COL7A1, COL12A1, COL11A1, COL4A6, ITGA11, COL2A1, ITGB1, COL21A1, COL5A3, COL4A2, COL19A1, COL20A1, COL23A1, COL18A1, COL15A1, COL6A1, COL13A1, COL28A1, COL25A1, COL27A1, COL4A1, COL16A1, COL22A1, COL6A2, COL9A3, COL17A1, COL4A5, COL10A1, COL8A2, COL6A3, COL5A1, COL5A2
COL2A1COL11A1Yesbinding56COL15A1, COL8A1, COL14A1, ITGB6, COL6A1, ITGA2B, COL22A1, COL4A5, ITGAV, COL9A2, ITGA11, ITGA9, COL25A1, COL6A3, ITGA6, ITGA5, COL21A1, COL4A2, PTK2, COL19A1, COL20A1, CD44, COL23A1, ITGB5, COL12A1, ITGA4, COL24A1, COL7A1, COL13A1, COL28A1, ITGA3, ITGA7, COL5A3, COL27A1, COL4A1, SDC4, COL16A1, ITGB7, ITGB4, ITGA2, COL6A2, ITGB8, ITGB1, ITGA8, LUM, COL9A3, COL17A1, COL4A6, COL10A1, ITGA1, SDC1, COL8A2, COL9A1, COL18A1, COL5A1, COL5A2
COL2A1COL9A1Yesbinding36COL24A1, COL8A1, COL14A1, SOX9, COL7A1, COL12A1, COL11A1, COL4A6, ITGA11, COL25A1, ITGB1, COL21A1, COL4A2, COL19A1, COL20A1, COL23A1, COL18A1, COL15A1, COL6A1, COL13A1, COL28A1, COL5A3, COL27A1, COL4A1, COL16A1, COL9A2, COL22A1, COL6A2, COL9A3, COL17A1, COL4A5, COL10A1, COL8A2, COL6A3, COL5A1, COL5A2
COL11A1COL9A1Yesreaction35COL24A1, COL8A1, COL14A1, COL7A1, COL12A1, COL22A1, COL4A6, ITGA11, COL2A1, ITGB1, COL21A1, COL5A3, COL4A2, COL19A1, COL20A1, COL23A1, COL18A1, COL15A1, COL6A1, COL13A1, COL28A1, COL25A1, COL27A1, COL4A1, COL16A1, COL9A2, COL6A2, COL9A3, COL17A1, COL4A5, COL10A1, COL8A2, COL6A3, COL5A1, COL5A2

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
COL9A2COL9A1Yes5COL9A2, COL9A3, COL1A2, COL9A1, COL1A1

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

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]
COL11A1COL2A1No
COL11A2COL2A1maybe, indirectThey may have indirect interactions becasue they are both collagen.
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Protein digestion and absorptionhsa049746.25COL11A1, COL9A2, COL9A1, COL2A1, COL11A2
Amoebiasishsa051465.823COL11A1, COL2A1, COL11A2
ECM-receptor interactionhsa045126.093COL11A1, COL2A1, COL11A2
Platelet activationhsa046115.663COL11A1, COL2A1, COL11A2
Focal adhesionhsa045104.923COL11A1, COL2A1, COL11A2
PI3K-Akt signaling pathwayhsa041514.213COL11A1, COL2A1, COL11A2

NET-GE enrichment

Term New enriched termICP valueGenes
Amoebiasis (hsa05146) -5.820.008COL11A1, COL2A1, COL11A2
Platelet activation (hsa04611) -5.660.001COL11A1, COL2A1, COL11A2
Infectious diseases: ParasiticNEW4.460.015COL11A1, COL2A1, COL11A2
Digestive systemNEW4.120.0COL11A1, COL2A1, COL9A1, COL9A2, COL11A2
ECM-receptor interaction (hsa04512) -6.090.001COL11A1, COL2A1, COL11A2
Focal adhesion (hsa04510) -4.920.035COL11A1, COL2A1, COL11A2
Protein digestion and absorption (hsa04974) -6.20.0COL11A1, COL9A2, COL9A1, COL2A1, COL11A2
PI3K-Akt signaling pathway (hsa04151) -4.210.025COL11A1, COL2A1, COL11A2
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Collagen biosynthesis and modifying enzymesR-HSA-16508146.985COL11A1, COL2A1, COL9A1, COL9A2, COL11A2
Extracellular matrix organizationR-HSA-14742444.915COL11A1, COL2A1, COL9A1, COL9A2, COL11A2
Collagen formationR-HSA-14742906.565COL11A1, COL2A1, COL9A1, COL9A2, COL11A2
Degradation of the extracellular matrixR-HSA-14742286.115COL11A1, COL2A1, COL9A1, COL9A2, COL11A2
Collagen degradationR-HSA-14424907.035COL11A1, COL9A2, COL9A1, COL2A1, COL11A2
Integrin cell surface interactionsR-HSA-2160836.573COL9A1, COL9A2, COL2A1
ECM proteoglycansR-HSA-30001786.753COL9A1, COL2A1, COL9A2
NCAM signaling for neurite out-growthR-HSA-3751654.93COL9A1, COL2A1, COL9A2
NCAM1 interactionsR-HSA-4190377.593COL9A1, COL9A2, COL2A1
Signal TransductionR-HSA-1625821.783COL9A1, COL9A2, COL2A1
Signaling by PDGFR-HSA-1867974.533COL9A1, COL9A2, COL2A1
Non-integrin membrane-ECM interactionsR-HSA-30001717.13COL11A1, COL2A1, COL11A2
Assembly of collagen fibrils and other multimeric structuresR-HSA-20220907.23COL11A1, COL2A1, COL11A2
Axon guidanceR-HSA-4224753.933COL9A1, COL2A1, COL9A2
Developmental BiologyR-HSA-12667383.483COL9A1, COL9A2, COL2A1

NET-GE enrichment

Term New enriched termICP valueGenes
Integrin cell surface interactions (R-HSA-216083) -6.570.001COL9A1, COL2A1, COL9A2
Degradation of the extracellular matrix (R-HSA-1474228) -6.110.0COL11A1, COL9A2, COL9A1, COL2A1, COL11A2
Collagen degradation (R-HSA-1442490) -7.030.0COL11A1, COL2A1, COL9A1, COL9A2, COL11A2
ECM proteoglycans (R-HSA-3000178) -6.750.0COL9A1, COL9A2, COL2A1
NCAM signaling for neurite out-growth (R-HSA-375165) -4.90.006COL9A1, COL9A2, COL2A1
NCAM1 interactions (R-HSA-419037) -7.590.0COL9A1, COL2A1, COL9A2
Extracellular matrix organization (R-HSA-1474244) -4.910.0COL11A1, COL9A2, COL9A1, COL2A1, COL11A2
Collagen formation (R-HSA-1474290) -6.560.0COL11A1, COL2A1, COL9A1, COL9A2, COL11A2
Collagen biosynthesis and modifying enzymes (R-HSA-1650814) -6.980.0COL11A1, COL9A2, COL9A1, COL2A1, COL11A2
Signaling by PDGF (R-HSA-186797) -4.530.012COL9A1, COL9A2, COL2A1
Non-integrin membrane-ECM interactions (R-HSA-3000171) -7.10.0COL11A1, COL2A1, COL11A2
Assembly of collagen fibrils and other multimeric structures (R-HSA-2022090) -7.20.0COL11A1, COL2A1, COL11A2
Axon guidance (R-HSA-422475) -3.930.04COL9A1, COL2A1, COL9A2
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
extracellular matrix structural constituent (GO:0005201) 5.375COL11A1, COL2A1, COL9A1, COL9A2, COL11A2
structural molecule activity (GO:0005198) 3.15COL11A1, COL9A2, COL9A1, COL2A1, COL11A2
metal ion binding (GO:0046872) 1.414COL11A1, COL2A1, COL9A1, COL11A2
cation binding (GO:0043169) 1.44COL11A1, COL2A1, COL9A1, COL11A2
ion binding (GO:0043167) 1.364COL11A1, COL2A1, COL9A1, COL11A2
binding (GO:0005488) 0.184COL11A1, COL2A1, COL9A1, COL11A2
extracellular matrix structural constituent conferring tensile strength (GO:0030020) 7.954COL9A1, COL2A1, COL9A2, COL11A2
protein binding (GO:0005515) 0.463COL11A1, COL2A1, COL11A2
protein binding, bridging (GO:0030674) 4.682COL11A1, COL11A2
binding, bridging (GO:0060090) 4.572COL11A1, COL11A2

NET-GE enrichment

Term New enriched termICP valueGenes
extracellular matrix structural constituent (GO:0005201) -5.370.0COL11A1, COL9A2, COL9A1, COL2A1, COL11A2
protein binding, bridging (GO:0030674) -4.680.008COL11A1, COL11A2
structural molecule activity (GO:0005198) -3.10.0COL11A1, COL9A2, COL9A1, COL2A1, COL11A2
extracellular matrix structural constituent conferring tensile strength (GO:0030020) -7.950.0COL9A1, COL2A1, COL9A2, COL11A2
binding, bridging (GO:0060090) -4.570.01COL11A1, COL11A2
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
developmental process (GO:0032502) 1.365COL11A1, COL2A1, COL9A1, COL9A2, COL11A2
cellular process (GO:0009987) 0.265COL11A1, COL9A2, COL9A1, COL2A1, COL11A2
cellular component organization (GO:0016043) 1.245COL11A1, COL9A2, COL9A1, COL2A1, COL11A2
extracellular matrix organization (GO:0030198) 4.015COL11A1, COL9A2, COL9A1, COL2A1, COL11A2
single-organism cellular process (GO:0044763) 0.655COL11A1, COL2A1, COL9A1, COL9A2, COL11A2
cellular component organization or biogenesis (GO:0071840) 1.225COL11A1, COL2A1, COL9A1, COL9A2, COL11A2
extracellular structure organization (GO:0043062) 4.05COL11A1, COL2A1, COL9A1, COL9A2, COL11A2
single-organism process (GO:0044699) 0.485COL11A1, COL2A1, COL9A1, COL9A2, COL11A2
organ morphogenesis (GO:0009887) 3.554COL11A1, COL2A1, COL9A1, COL11A2
anatomical structure development (GO:0048856) 1.584COL11A1, COL2A1, COL9A2, COL11A2
cellular developmental process (GO:0048869) 1.824COL11A1, COL2A1, COL9A1, COL11A2
cell differentiation (GO:0030154) 2.144COL11A1, COL2A1, COL9A1, COL11A2
single-organism developmental process (GO:0044767) 1.494COL11A1, COL2A1, COL9A1, COL11A2
anatomical structure morphogenesis (GO:0009653) 2.534COL11A1, COL2A1, COL9A1, COL11A2
metabolic process (GO:0008152) 0.583COL11A1, COL2A1, COL11A2
macromolecular complex subunit organization (GO:0043933) 2.143COL11A1, COL2A1, COL11A2
skeletal system development (GO:0001501) 4.493COL2A1, COL9A2, COL11A2
collagen metabolic process (GO:0032963) 5.423COL11A1, COL2A1, COL11A2
multicellular organism catabolic process (GO:0044243) 5.473COL11A1, COL2A1, COL11A2
single-organism catabolic process (GO:0044712) 3.213COL11A1, COL2A1, COL11A2
single-organism metabolic process (GO:0044710) 1.633COL11A1, COL2A1, COL11A2
protein complex subunit organization (GO:0071822) 2.63COL11A1, COL2A1, COL11A2
multicellular organism metabolic process (GO:0044236) 5.23COL11A1, COL2A1, COL11A2
organic substance metabolic process (GO:0071704) 0.633COL11A1, COL2A1, COL11A2
animal organ development (GO:0048513) 2.533COL11A1, COL2A1, COL11A2
neurological system process (GO:0050877) 2.643COL11A1, COL2A1, COL11A2
chondrocyte differentiation (GO:0002062) 5.883COL2A1, COL9A1, COL11A2
skeletal system morphogenesis (GO:0048705) 4.983COL11A1, COL2A1, COL11A2
multicellular organismal process (GO:0032501) 1.453COL11A1, COL2A1, COL11A2
sensory perception of sound (GO:0007605) 4.823COL11A1, COL2A1, COL11A2
sensory perception of mechanical stimulus (GO:0050954) 4.793COL11A1, COL2A1, COL11A2
sensory perception (GO:0007600) 2.933COL11A1, COL2A1, COL11A2
multicellular organismal macromolecule metabolic process (GO:0044259) 5.363COL11A1, COL2A1, COL11A2
catabolic process (GO:0009056) 2.383COL11A1, COL2A1, COL11A2
system process (GO:0003008) 2.33COL11A1, COL2A1, COL11A2
cartilage development (GO:0051216) 5.313COL11A1, COL2A1, COL11A2
single-multicellular organism process (GO:0044707) 1.783COL11A1, COL2A1, COL11A2
collagen catabolic process (GO:0030574) 5.573COL11A1, COL2A1, COL11A2
macromolecule metabolic process (GO:0043170) 0.833COL11A1, COL2A1, COL11A2
collagen fibril organization (GO:0030199) 6.073COL11A1, COL2A1, COL11A2
system development (GO:0048731) 2.923COL9A2, COL2A1, COL11A2
embryonic organ morphogenesis (GO:0048562) 4.922COL11A1, COL2A1
anatomical structure homeostasis (GO:0060249) 4.252COL2A1, COL11A2
palate development (GO:0060021) 5.382COL2A1, COL11A2
homeostatic process (GO:0042592) 2.612COL2A1, COL11A2
cartilage condensation (GO:0001502) 6.642COL11A1, COL2A1
ossification (GO:0001503) 4.862COL11A1, COL2A1
glycoprotein metabolic process (GO:0009100) 5.232COL11A1, COL2A1
cellular macromolecule metabolic process (GO:0044260) 0.932COL11A1, COL2A1
biological regulation (GO:0065007) 0.392COL2A1, COL11A2
regulation of biological quality (GO:0065008) 1.682COL2A1, COL11A2
embryonic morphogenesis (GO:0048598) 3.722COL11A1, COL2A1
embryonic skeletal system morphogenesis (GO:0048704) 5.312COL11A1, COL2A1
visual perception (GO:0007601) 4.412COL11A1, COL2A1
tissue development (GO:0009888) 3.272COL11A1, COL2A1
sensory perception of light stimulus (GO:0050953) 4.42COL11A1, COL2A1
heart morphogenesis (GO:0003007) 5.842COL11A1, COL2A1
tissue homeostasis (GO:0001894) 4.782COL2A1, COL11A2
cell aggregation (GO:0098743) 6.642COL11A1, COL2A1
inner ear morphogenesis (GO:0042472) 5.622COL11A1, COL2A1
response to stimulus (GO:0050896) 1.222COL11A1, COL2A1
cellular metabolic process (GO:0044237) 0.692COL11A1, COL2A1
proteoglycan metabolic process (GO:0006029) 5.782COL11A1, COL2A1
carbohydrate derivative metabolic process (GO:1901135) 3.072COL11A1, COL2A1

NET-GE enrichment

Term New enriched termICP valueGenes
cartilage development involved in endochondral bone morphogenesis (GO:0060351) NEW7.240.001COL2A1, COL9A1
palate development (GO:0060021) -5.380.027COL2A1, COL11A2
skeletal system development (GO:0001501) -4.490.001COL9A2, COL2A1, COL11A2
cartilage condensation (GO:0001502) -6.640.002COL11A1, COL2A1
collagen metabolic process (GO:0032963) -5.420.0COL11A1, COL2A1, COL9A1, COL9A2, COL11A2
axon guidance (GO:0007411) NEW4.440.011COL9A1, COL9A2, COL2A1
multicellular organismal catabolic process (GO:0044243) -5.470.0COL11A1, COL9A2, COL9A1, COL2A1, COL11A2
glycoprotein metabolic process (GO:0009100) -5.230.024COL11A1, COL2A1
single-organism catabolic process (GO:0044712) -3.210.0COL11A1, COL2A1, COL9A1, COL9A2, COL11A2
proteoglycan metabolic process (GO:0006029) -5.780.009COL11A1, COL2A1
extracellular structure organization (GO:0043062) -4.00.0COL11A1, COL2A1, COL9A1, COL9A2, COL11A2
growth plate cartilage development (GO:0003417) NEW7.780.002COL2A1, COL9A1
extracellular matrix disassembly (GO:0022617) NEW5.380.0COL11A1, COL2A1, COL9A1, COL9A2, COL11A2
skeletal system morphogenesis (GO:0048705) -4.980.048COL11A1, COL2A1
embryonic skeletal system morphogenesis (GO:0048704) -5.310.028COL11A1, COL2A1
organ morphogenesis (GO:0009887) -3.550.015COL11A1, COL2A1, COL9A1
multicellular organismal process (GO:0032501) -1.450.021COL11A1, COL2A1, COL9A1, COL9A2, COL11A2
sensory perception of sound (GO:0007605) -4.820.0COL11A1, COL2A1, COL11A2
sensory perception of mechanical stimulus (GO:0050954) -4.790.0COL11A1, COL2A1, COL11A2
sensory perception (GO:0007600) -2.930.02COL11A1, COL2A1, COL11A2
tendon development (GO:0035989) NEW8.630.0COL11A1, COL2A1
cartilage development (GO:0051216) -5.310.0COL2A1, COL9A1, COL11A2
cellular component disassembly (GO:0022411) NEW3.520.0COL11A1, COL2A1, COL9A1, COL9A2, COL11A2
multicellular organismal macromolecule metabolic process (GO:0044259) -5.360.0COL11A1, COL9A2, COL9A1, COL2A1, COL11A2
neuron projection guidance (GO:0097485) NEW4.430.011COL9A1, COL2A1, COL9A2
catabolic process (GO:0009056) -2.380.003COL11A1, COL9A2, COL9A1, COL2A1, COL11A2
inner ear morphogenesis (GO:0042472) -5.620.015COL11A1, COL2A1
single-multicellular organism process (GO:0044707) -1.780.018COL11A1, COL2A1, COL9A1, COL9A2, COL11A2
anatomical structure development (GO:0048856) -1.580.009COL11A1, COL2A1, COL9A1, COL9A2, COL11A2
collagen catabolic process (GO:0030574) -5.570.0COL11A1, COL9A2, COL9A1, COL2A1, COL11A2
multicellular organismal metabolic process (GO:0044236) -5.20.0COL11A1, COL9A2, COL9A1, COL2A1, COL11A2
collagen fibril organization (GO:0030199) -6.070.0COL11A1, COL2A1, COL11A2
extracellular matrix organization (GO:0030198) -4.010.0COL11A1, COL9A2, COL9A1, COL2A1, COL11A2
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
protein complex (GO:0043234) 1.515COL11A1, COL9A2, COL9A1, COL2A1, COL11A2
macromolecular complex (GO:0032991) 1.355COL11A1, COL9A2, COL9A1, COL2A1, COL11A2
collagen trimer (GO:0005581) 5.215COL11A1, COL2A1, COL9A1, COL9A2, COL11A2
organelle lumen (GO:0043233) 3.055COL11A1, COL2A1, COL9A1, COL9A2, COL11A2
extracellular region part (GO:0044421) 1.575COL11A1, COL9A2, COL9A1, COL2A1, COL11A2
cell part (GO:0044464) 0.115COL11A1, COL2A1, COL9A1, COL9A2, COL11A2
endoplasmic reticulum lumen (GO:0005788) 4.55COL11A1, COL9A2, COL9A1, COL2A1, COL11A2
extracellular matrix (GO:0031012) 3.815COL11A1, COL9A2, COL9A1, COL2A1, COL11A2
intracellular organelle part (GO:0044446) 0.815COL11A1, COL2A1, COL9A1, COL9A2, COL11A2
endoplasmic reticulum part (GO:0044432) 2.735COL11A1, COL2A1, COL9A1, COL9A2, COL11A2
cytoplasmic part (GO:0044444) 0.825COL11A1, COL9A2, COL9A1, COL2A1, COL11A2
intracellular organelle lumen (GO:0070013) 3.055COL11A1, COL2A1, COL9A1, COL9A2, COL11A2
membrane-enclosed lumen (GO:0031974) 3.055COL11A1, COL9A2, COL9A1, COL2A1, COL11A2
intracellular part (GO:0044424) 0.285COL11A1, COL9A2, COL9A1, COL2A1, COL11A2
proteinaceous extracellular matrix (GO:0005578) 4.015COL11A1, COL2A1, COL9A1, COL9A2, COL11A2
organelle part (GO:0044422) 0.795COL11A1, COL9A2, COL9A1, COL2A1, COL11A2
extracellular region (GO:0005576) 2.185COL11A1, COL2A1, COL9A1, COL9A2, COL11A2
extracellular matrix component (GO:0044420) 4.973COL11A1, COL2A1, COL11A2
fibrillar collagen trimer (GO:0005583) 7.323COL11A1, COL2A1, COL11A2
FACIT collagen trimer (GO:0005593) 8.012COL9A2, COL9A1
collagen type XI trimer (GO:0005592) 9.112COL11A1, COL11A2
collagen type IX trimer (GO:0005594) 8.72COL9A2, COL9A1

NET-GE enrichment

Term New enriched termICP valueGenes
protein complex (GO:0043234) -1.510.011COL11A1, COL9A2, COL9A1, COL2A1, COL11A2
macromolecular complex (GO:0032991) -1.350.026COL11A1, COL9A2, COL9A1, COL2A1, COL11A2
collagen trimer (GO:0005581) -5.210.0COL11A1, COL2A1, COL9A1, COL9A2, COL11A2
organelle lumen (GO:0043233) -3.050.0COL11A1, COL2A1, COL9A1, COL9A2, COL11A2
fibrillar collagen trimer (GO:0005583) -7.320.0COL11A1, COL2A1, COL11A2
intracellular organelle lumen (GO:0070013) -3.050.0COL11A1, COL2A1, COL9A1, COL9A2, COL11A2
membrane-enclosed lumen (GO:0031974) -3.050.001COL11A1, COL9A2, COL9A1, COL2A1, COL11A2
proteinaceous extracellular matrix (GO:0005578) -4.010.04COL9A1, COL2A1, COL9A2
endoplasmic reticulum part (GO:0044432) -2.730.0COL11A1, COL2A1, COL9A1, COL9A2, COL11A2
extracellular region (GO:0005576) -2.180.0COL11A1, COL2A1, COL9A1, COL9A2, COL11A2
endoplasmic reticulum lumen (GO:0005788) -4.50.0COL11A1, COL9A2, COL9A1, COL2A1, COL11A2
FACIT collagen trimer (GO:0005593) -8.010.0COL9A2, COL9A1
collagen type XI trimer (GO:0005592) -9.110.0COL11A1, COL11A2
extracellular matrix (GO:0031012) -3.810.001COL9A1, COL9A2, COL2A1
extracellular matrix part (GO:0044420) -4.970.0COL11A1, COL2A1, COL11A2
extracellular region part (GO:0044421) -1.570.007COL11A1, COL9A2, COL9A1, COL2A1, COL11A2
collagen type IX trimer (GO:0005594) -8.70.0COL9A2, COL9A1