Disease table of TELANGIECTASIA, HEREDITARY HEMORRHAGIC OMIM ID: PS187300

Gene-disease associations table

GeneAssociated with TELANGIECTASIA, HEREDITARY HEMORRHAGIC inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
GDF2ClinVar, OMIM, HUMSAVARHGNC link10q11.221PS187300
ACVRL1ClinVar, OMIM, HUMSAVARHGNC link12q13.131PS187300
ENGClinVar, OMIM, HUMSAVARHGNC link9q34.111PS187300

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Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
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, ODC12ENG, ACVRL1
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
ACVRL1YES2SP1, TCF7L20
ENGYES2SP1, ERG0
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
GDF2ENGNo2ACVR2B, ACVR2A
ACVRL1ENGYes4TGFB1, ENG, TGFBR1, ACVR1

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
ACVRL1ENGYesbinding8TGFBR2, TGFB3, SMAD4, TGFBR1, SMAD3, ACVR2A, BMP2, TGFB1

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
GDF2ACVRL1Yes3ACVR2B, ACVRL1, GDF2

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

Interactions from manually curated literature
Gene1Gene2Direct interactionMore information
ENGGDF2yes, they interactThey are in interaction. [UniProt]
KEGG pathways annotation: NET-GE enrichment (no shared terms)

NET-GE enrichment

Term New enriched termICP valueGenes
TGF-beta signaling pathway (hsa04350) NEW6.410.011ACVRL1, GDF2
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
binding (GO:0005488) 0.183ENG, ACVRL1, GDF2
protein binding (GO:0005515) 0.463ENG, ACVRL1, GDF2
cytokine receptor binding (GO:0005126) 4.142ENG, GDF2
signaling receptor activity (GO:0038023) 2.492ENG, ACVRL1
transforming growth factor beta receptor binding (GO:0005160) 5.812ENG, GDF2
cytokine binding (GO:0019955) 5.212ENG, ACVRL1
molecular transducer activity (GO:0060089) 2.322ENG, ACVRL1
macromolecular complex binding (GO:0044877) 2.612ENG, ACVRL1
receptor activity (GO:0004872) 2.322ENG, ACVRL1
signal transducer activity (GO:0004871) 2.282ENG, ACVRL1
transforming growth factor beta binding (GO:0050431) 6.972ENG, ACVRL1
receptor signaling protein activity (GO:0005057) 4.762ENG, ACVRL1
growth factor binding (GO:0019838) 4.892ENG, ACVRL1
transmembrane receptor protein serine/threonine kinase activity (GO:0004675) 6.912ENG, ACVRL1
protein serine/threonine kinase activity (GO:0004674) 3.642ENG, ACVRL1
transferase activity (GO:0016740) 1.952ENG, ACVRL1
protein kinase activity (GO:0004672) 3.272ENG, ACVRL1
protein complex binding (GO:0032403) 3.092ENG, ACVRL1
kinase activity (GO:0016301) 2.932ENG, ACVRL1
small molecule binding (GO:0036094) 1.892ENG, ACVRL1
catalytic activity (GO:0003824) 1.052ENG, ACVRL1
phosphotransferase activity, alcohol group as acceptor (GO:0016773) 3.082ENG, ACVRL1
transferase activity, transferring phosphorus-containing groups (GO:0016772) 2.772ENG, ACVRL1
transforming growth factor beta-activated receptor activity (GO:0005024) 7.442ENG, ACVRL1
carbohydrate derivative binding (GO:0097367) 2.032ENG, ACVRL1
transmembrane signaling receptor activity (GO:0004888) 2.572ENG, ACVRL1
transmembrane receptor activity (GO:0099600) 2.532ENG, ACVRL1
receptor binding (GO:0005102) 2.432ENG, GDF2
transmembrane receptor protein kinase activity (GO:0019199) 5.322ENG, ACVRL1
activin binding (GO:0048185) 7.252ENG, ACVRL1

NET-GE enrichment

Term New enriched termICP valueGenes
receptor signaling protein activity (GO:0005057) -4.760.009ENG, ACVRL1
cytokine binding (GO:0019955) -5.210.003ENG, ACVRL1
growth factor binding (GO:0019838) -4.890.001ENG, ACVRL1, GDF2
transforming growth factor beta-activated receptor activity (GO:0005024) -7.440.0ENG, ACVRL1, GDF2
transmembrane receptor protein serine/threonine kinase activity (GO:0004675) -6.910.0ENG, ACVRL1, GDF2
protein serine/threonine kinase activity (GO:0004674) -3.640.031ENG, ACVRL1, GDF2
transmembrane receptor protein kinase activity (GO:0019199) -5.320.0ENG, ACVRL1, GDF2
activin binding (GO:0048185) -7.250.0ENG, ACVRL1
transforming growth factor beta binding (GO:0050431) -6.970.0ENG, ACVRL1
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
regulation of phosphate metabolic process (GO:0019220) 2.353ENG, ACVRL1, GDF2
regulation of primary metabolic process (GO:0080090) 1.083ENG, ACVRL1, GDF2
regulation of metabolic process (GO:0019222) 1.023ENG, ACVRL1, GDF2
positive regulation of response to stimulus (GO:0048584) 2.183ENG, ACVRL1, GDF2
regulation of response to stimulus (GO:0048583) 1.543ENG, ACVRL1, GDF2
negative regulation of epithelial cell proliferation (GO:0050680) 4.983ENG, ACVRL1, GDF2
regulation of angiogenesis (GO:0045765) 4.363ENG, ACVRL1, GDF2
BMP signaling pathway (GO:0030509) 5.333ENG, ACVRL1, GDF2
signal transduction (GO:0007165) 1.283ENG, ACVRL1, GDF2
cell surface receptor signaling pathway (GO:0007166) 2.093ENG, ACVRL1, GDF2
enzyme linked receptor protein signaling pathway (GO:0007167) 3.243ENG, ACVRL1, GDF2
negative regulation of macromolecule metabolic process (GO:0010605) 2.013ENG, ACVRL1, GDF2
positive regulation of macromolecule metabolic process (GO:0010604) 1.813ENG, ACVRL1, GDF2
regulation of signal transduction (GO:0009966) 1.843ENG, ACVRL1, GDF2
positive regulation of signal transduction (GO:0009967) 2.53ENG, ACVRL1, GDF2
blood vessel morphogenesis (GO:0048514) 5.323ENG, ACVRL1, GDF2
positive regulation of biological process (GO:0048518) 1.23ENG, ACVRL1, GDF2
negative regulation of biological process (GO:0048519) 1.333ENG, ACVRL1, GDF2
regulation of BMP signaling pathway (GO:0030510) 5.363ENG, ACVRL1, GDF2
regulation of cell proliferation (GO:0042127) 2.413ENG, ACVRL1, GDF2
regulation of macromolecule metabolic process (GO:0060255) 1.083ENG, ACVRL1, GDF2
regulation of RNA biosynthetic process (GO:2001141) 1.553ENG, ACVRL1, GDF2
positive regulation of BMP signaling pathway (GO:0030513) 6.263ENG, ACVRL1, GDF2
transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178) 4.63ENG, ACVRL1, GDF2
regulation of phosphorylation (GO:0042325) 2.53ENG, ACVRL1, GDF2
positive regulation of phosphorylation (GO:0042327) 2.93ENG, ACVRL1, GDF2
single-multicellular organism process (GO:0044707) 1.783ENG, ACVRL1, GDF2
regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393) 5.633ENG, ACVRL1, GDF2
negative regulation of metabolic process (GO:0009892) 1.933ENG, ACVRL1, GDF2
positive regulation of metabolic process (GO:0009893) 1.743ENG, ACVRL1, GDF2
negative regulation of biosynthetic process (GO:0009890) 2.473ENG, ACVRL1, GDF2
positive regulation of biosynthetic process (GO:0009891) 2.293ENG, ACVRL1, GDF2
regulation of vasculature development (GO:1901342) 4.263ENG, ACVRL1, GDF2
positive regulation of gene expression (GO:0010628) 2.353ENG, ACVRL1, GDF2
positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862) 5.863ENG, ACVRL1, GDF2
regulation of biological process (GO:0050789) 0.453ENG, ACVRL1, GDF2
regulation of cell communication (GO:0010646) 1.733ENG, ACVRL1, GDF2
positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090100) 5.123ENG, ACVRL1, GDF2
biological regulation (GO:0065007) 0.393ENG, ACVRL1, GDF2
regulation of biological quality (GO:0065008) 1.683ENG, ACVRL1, GDF2
anatomical structure formation involved in morphogenesis (GO:0048646) 3.013ENG, ACVRL1, GDF2
regulation of developmental process (GO:0050793) 2.13ENG, ACVRL1, GDF2
regulation of biosynthetic process (GO:0009889) 1.373ENG, ACVRL1, GDF2
regulation of cellular process (GO:0050794) 0.53ENG, ACVRL1, GDF2
regulation of multicellular organismal process (GO:0051239) 1.873ENG, ACVRL1, GDF2
regulation of phosphorus metabolic process (GO:0051174) 2.353ENG, ACVRL1, GDF2
response to stimulus (GO:0050896) 1.223ENG, ACVRL1, GDF2
positive regulation of protein modification process (GO:0031401) 2.73ENG, ACVRL1, GDF2
regulation of transcription, DNA-templated (GO:0006355) 1.563ENG, ACVRL1, GDF2
positive regulation of macromolecule biosynthetic process (GO:0010557) 2.393ENG, ACVRL1, GDF2
regulation of transcription from RNA polymerase II promoter (GO:0006357) 2.243ENG, ACVRL1, GDF2
regulation of cell motility (GO:2000145) 3.163ENG, ACVRL1, GDF2
cellular developmental process (GO:0048869) 1.823ENG, ACVRL1, GDF2
positive regulation of multicellular organismal process (GO:0051240) 2.493ENG, ACVRL1, GDF2
cell differentiation (GO:0030154) 2.143ENG, ACVRL1, GDF2
positive regulation of signaling (GO:0023056) 2.413ENG, ACVRL1, GDF2
regulation of signaling (GO:0023051) 1.723ENG, ACVRL1, GDF2
positive regulation of cell communication (GO:0010647) 2.413ENG, ACVRL1, GDF2
anatomical structure morphogenesis (GO:0009653) 2.533ENG, ACVRL1, GDF2
single-organism process (GO:0044699) 0.483ENG, ACVRL1, GDF2
regulation of cellular response to growth factor stimulus (GO:0090287) 4.293ENG, ACVRL1, GDF2
positive regulation of vasculature development (GO:1904018) 4.833ENG, ACVRL1, GDF2
positive regulation of phosphorus metabolic process (GO:0010562) 2.783ENG, ACVRL1, GDF2
regulation of anatomical structure morphogenesis (GO:0022603) 2.793ENG, ACVRL1, GDF2
regulation of protein metabolic process (GO:0051246) 1.933ENG, ACVRL1, GDF2
positive regulation of protein metabolic process (GO:0051247) 2.433ENG, ACVRL1, GDF2
positive regulation of cellular protein metabolic process (GO:0032270) 2.493ENG, ACVRL1, GDF2
regulation of protein modification process (GO:0031399) 2.323ENG, ACVRL1, GDF2
developmental process (GO:0032502) 1.363ENG, ACVRL1, GDF2
negative regulation of cell proliferation (GO:0008285) 3.263ENG, ACVRL1, GDF2
multicellular organismal process (GO:0032501) 1.453ENG, ACVRL1, GDF2
tube morphogenesis (GO:0035239) 4.353ENG, ACVRL1, GDF2
cellular process (GO:0009987) 0.263ENG, ACVRL1, GDF2
negative regulation of locomotion (GO:0040013) 4.223ENG, ACVRL1, GDF2
regulation of nucleic acid-templated transcription (GO:1903506) 1.553ENG, ACVRL1, GDF2
regulation of locomotion (GO:0040012) 3.123ENG, ACVRL1, GDF2
positive regulation of transcription, DNA-templated (GO:0045893) 2.563ENG, ACVRL1, GDF2
regulation of localization (GO:0032879) 1.943ENG, ACVRL1, GDF2
regulation of cellular protein metabolic process (GO:0032268) 1.993ENG, ACVRL1, GDF2
regulation of epithelial cell proliferation (GO:0050678) 4.063ENG, ACVRL1, GDF2
positive regulation of developmental process (GO:0051094) 2.773ENG, ACVRL1, GDF2
regulation of RNA metabolic process (GO:0051252) 1.523ENG, ACVRL1, GDF2
positive regulation of RNA metabolic process (GO:0051254) 2.513ENG, ACVRL1, GDF2
positive regulation of RNA biosynthetic process (GO:1902680) 2.543ENG, ACVRL1, GDF2
positive regulation of transcription from RNA polymerase II promoter (GO:0045944) 2.813ENG, ACVRL1, GDF2
positive regulation of nucleic acid-templated transcription (GO:1903508) 2.563ENG, ACVRL1, GDF2
positive regulation of cellular biosynthetic process (GO:0031328) 2.33ENG, ACVRL1, GDF2
negative regulation of cellular biosynthetic process (GO:0031327) 2.493ENG, ACVRL1, GDF2
regulation of cellular biosynthetic process (GO:0031326) 1.383ENG, ACVRL1, GDF2
positive regulation of cellular metabolic process (GO:0031325) 1.813ENG, ACVRL1, GDF2
negative regulation of cellular metabolic process (GO:0031324) 2.013ENG, ACVRL1, GDF2
regulation of cellular metabolic process (GO:0031323) 1.073ENG, ACVRL1, GDF2
angiogenesis (GO:0001525) 4.153ENG, ACVRL1, GDF2
morphogenesis of an epithelium (GO:0002009) 4.083ENG, ACVRL1, GDF2
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.463ENG, ACVRL1, GDF2
negative regulation of cellular macromolecule biosynthetic process (GO:2000113) 2.63ENG, ACVRL1, GDF2
positive regulation of angiogenesis (GO:0045766) 4.933ENG, ACVRL1, GDF2
regulation of macromolecule biosynthetic process (GO:0010556) 1.433ENG, ACVRL1, GDF2
tissue morphogenesis (GO:0048729) 3.873ENG, ACVRL1, GDF2
regulation of gene expression (GO:0010468) 1.373ENG, ACVRL1, GDF2
negative regulation of cell migration (GO:0030336) 4.413ENG, ACVRL1, GDF2
regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090092) 4.393ENG, ACVRL1, GDF2
regulation of cell migration (GO:0030334) 3.233ENG, ACVRL1, GDF2
positive regulation of nucleobase-containing compound metabolic process (GO:0045935) 2.353ENG, ACVRL1, GDF2
negative regulation of nucleobase-containing compound metabolic process (GO:0045934) 2.553ENG, ACVRL1, GDF2
positive regulation of phosphate metabolic process (GO:0045937) 2.783ENG, ACVRL1, GDF2
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.433ENG, ACVRL1, GDF2
negative regulation of cell motility (GO:2000146) 4.363ENG, ACVRL1, GDF2
single-organism developmental process (GO:0044767) 1.493ENG, ACVRL1, GDF2
single-organism cellular process (GO:0044763) 0.653ENG, ACVRL1, GDF2
regulation of nitrogen compound metabolic process (GO:0051171) 1.363ENG, ACVRL1, GDF2
negative regulation of nitrogen compound metabolic process (GO:0051172) 2.473ENG, ACVRL1, GDF2
positive regulation of nitrogen compound metabolic process (GO:0051173) 2.293ENG, ACVRL1, GDF2
negative regulation of cellular component movement (GO:0051271) 4.223ENG, ACVRL1, GDF2
regulation of cellular component movement (GO:0051270) 3.083ENG, ACVRL1, GDF2
regulation of endothelial cell proliferation (GO:0001936) 5.143ENG, ACVRL1, GDF2
anatomical structure development (GO:0048856) 1.583ENG, ACVRL1, GDF2
negative regulation of macromolecule biosynthetic process (GO:0010558) 2.533ENG, ACVRL1, GDF2
regulation of multicellular organismal development (GO:2000026) 2.313ENG, ACVRL1, GDF2
negative regulation of endothelial cell proliferation (GO:0001937) 6.263ENG, ACVRL1, GDF2
regulation of protein phosphorylation (GO:0001932) 2.573ENG, ACVRL1, GDF2
positive regulation of protein phosphorylation (GO:0001934) 2.953ENG, ACVRL1, GDF2
negative regulation of cellular process (GO:0048523) 1.413ENG, ACVRL1, GDF2
positive regulation of cellular process (GO:0048522) 1.33ENG, ACVRL1, GDF2
cellular response to endogenous stimulus (GO:0071495) 3.332ACVRL1, GDF2
negative regulation of multicellular organismal process (GO:0051241) 2.842ACVRL1, GDF2
negative regulation of growth (GO:0045926) 4.242ACVRL1, GDF2
negative regulation of cell growth (GO:0030308) 4.582ACVRL1, GDF2
phosphorylation (GO:0016310) 2.632ACVRL1, GDF2
regulation of cell adhesion (GO:0030155) 3.272ENG, ACVRL1
cell motility (GO:0048870) 3.022ENG, ACVRL1
branching morphogenesis of an epithelial tube (GO:0048754) 4.932ENG, GDF2
regulation of cellular component organization (GO:0051128) 2.012ACVRL1, GDF2
morphogenesis of a branching structure (GO:0001763) 4.712ENG, GDF2
regulation of blood pressure (GO:0008217) 4.722ENG, ACVRL1
cellular metabolic process (GO:0044237) 0.692ACVRL1, GDF2
cellular response to chemical stimulus (GO:0070887) 2.572ACVRL1, GDF2
activin receptor signaling pathway (GO:0032924) 6.642ACVRL1, GDF2
regulation of cell differentiation (GO:0045595) 2.422ACVRL1, GDF2
cellular component organization or biogenesis (GO:0071840) 1.222ENG, ACVRL1
response to endogenous stimulus (GO:0009719) 2.792ACVRL1, GDF2
cellular protein metabolic process (GO:0044267) 1.632ACVRL1, GDF2
cellular response to stimulus (GO:0051716) 1.972ACVRL1, GDF2
cellular macromolecule metabolic process (GO:0044260) 0.932ACVRL1, GDF2
regulation of growth (GO:0040008) 3.262ACVRL1, GDF2
patterning of blood vessels (GO:0001569) 6.42ENG, GDF2
response to growth factor (GO:0070848) 4.142ACVRL1, GDF2
cellular component organization (GO:0016043) 1.242ENG, ACVRL1
positive regulation of endothelial cell differentiation (GO:0045603) 7.022ACVRL1, GDF2
organic substance metabolic process (GO:0071704) 0.632ACVRL1, GDF2
regulation of endothelial cell differentiation (GO:0045601) 6.42ACVRL1, GDF2
animal organ development (GO:0048513) 2.532ENG, GDF2
regulation of epithelial cell differentiation (GO:0030856) 4.962ACVRL1, GDF2
morphogenesis of a branching epithelium (GO:0061138) 4.772ENG, GDF2
epithelial tube morphogenesis (GO:0060562) 5.122ENG, ACVRL1
positive regulation of epithelial cell differentiation (GO:0030858) 5.762ACVRL1, GDF2
cell migration (GO:0016477) 3.122ENG, ACVRL1
positive regulation of cell proliferation (GO:0008284) 3.012ACVRL1, GDF2
negative regulation of developmental process (GO:0051093) 3.172ACVRL1, GDF2
protein phosphorylation (GO:0006468) 2.892ACVRL1, GDF2
negative regulation of DNA metabolic process (GO:0051053) 4.982ACVRL1, GDF2
regulation of DNA metabolic process (GO:0051052) 3.872ACVRL1, GDF2
vasculogenesis (GO:0001570) 5.652ENG, GDF2
negative regulation of DNA biosynthetic process (GO:2000279) 6.232ACVRL1, GDF2
regulation of DNA biosynthetic process (GO:2000278) 5.172ACVRL1, GDF2
cellular protein modification process (GO:0006464) 1.792ACVRL1, GDF2
cellular response to organic substance (GO:0071310) 2.782ACVRL1, GDF2
positive regulation of cartilage development (GO:0061036) 6.362ACVRL1, GDF2
pattern specification process (GO:0007389) 3.792ENG, GDF2
macromolecule modification (GO:0043412) 1.732ACVRL1, GDF2
regulation of cell growth (GO:0001558) 3.752ACVRL1, GDF2
metabolic process (GO:0008152) 0.582ACVRL1, GDF2
response to chemical (GO:0042221) 1.982ACVRL1, GDF2
movement of cell or subcellular component (GO:0006928) 2.612ENG, ACVRL1
primary metabolic process (GO:0044238) 0.692ACVRL1, GDF2
response to organic substance (GO:0010033) 2.22ACVRL1, GDF2
transforming growth factor beta receptor signaling pathway (GO:0007179) 5.192ENG, ACVRL1
positive regulation of epithelial cell proliferation (GO:0050679) 4.672ACVRL1, GDF2
locomotion (GO:0040011) 2.912ENG, ACVRL1
negative regulation of blood vessel endothelial cell migration (GO:0043537) 6.552ACVRL1, GDF2
protein modification process (GO:0036211) 1.792ACVRL1, GDF2
cellular response to growth factor stimulus (GO:0071363) 4.272ACVRL1, GDF2
regulation of endothelial cell migration (GO:0010594) 4.992ACVRL1, GDF2
regulation of epithelial cell migration (GO:0010632) 4.622ACVRL1, GDF2
negative regulation of epithelial cell migration (GO:0010633) 5.762ACVRL1, GDF2
protein metabolic process (GO:0019538) 1.452ACVRL1, GDF2
negative regulation of endothelial cell migration (GO:0010596) 6.072ACVRL1, GDF2
positive regulation of cell differentiation (GO:0045597) 3.012ACVRL1, GDF2
regulation of blood vessel endothelial cell migration (GO:0043535) 5.82ACVRL1, GDF2
regulation of DNA replication (GO:0006275) 5.022ACVRL1, GDF2
macromolecule metabolic process (GO:0043170) 0.832ACVRL1, GDF2
positive regulation of endothelial cell proliferation (GO:0001938) 5.512ACVRL1, GDF2
phosphate-containing compound metabolic process (GO:0006796) 2.162ACVRL1, GDF2
regulation of cartilage development (GO:0061035) 5.62ACVRL1, GDF2
phosphorus metabolic process (GO:0006793) 2.152ACVRL1, GDF2
response to BMP (GO:0071772) 6.172ACVRL1, GDF2
cellular response to BMP stimulus (GO:0071773) 6.172ACVRL1, GDF2

NET-GE enrichment

Term New enriched termICP valueGenes
venous blood vessel morphogenesis (GO:0048845) NEW7.530.002ENG, GDF2
activin receptor signaling pathway (GO:0032924) -6.640.003ACVRL1, GDF2
negative regulation of cell migration (GO:0030336) -4.410.0ENG, ACVRL1, GDF2
negative regulation of epithelial cell proliferation (GO:0050680) -4.980.0ENG, ACVRL1, GDF2
BMP signaling pathway (GO:0030509) -5.330.0ENG, ACVRL1, GDF2
enzyme linked receptor protein signaling pathway (GO:0007167) -3.240.026ENG, ACVRL1, GDF2
tube morphogenesis (GO:0035239) -4.350.034ENG, ACVRL1, GDF2
positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862) -5.860.0ENG, ACVRL1, GDF2
regulation of epithelial cell differentiation (GO:0030856) -4.960.038ACVRL1, GDF2
morphogenesis of an epithelium (GO:0002009) -4.080.002ENG, ACVRL1, GDF2
angiogenesis (GO:0001525) -4.150.041ENG, ACVRL1, GDF2
positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090100) -5.120.0ENG, ACVRL1, GDF2
positive regulation of phosphorus metabolic process (GO:0010562) -2.780.039ENG, ACVRL1, GDF2
patterning of blood vessels (GO:0001569) -6.40.038ENG, GDF2
response to growth factor (GO:0070848) -4.140.011ENG, ACVRL1, GDF2
positive regulation of angiogenesis (GO:0045766) -4.930.034ACVRL1, GDF2
positive regulation of endothelial cell differentiation (GO:0045603) -7.020.001ACVRL1, GDF2
regulation of endothelial cell differentiation (GO:0045601) -6.40.001ACVRL1, GDF2
positive regulation of transcription from RNA polymerase II promoter (GO:0045944) -2.810.039ENG, ACVRL1, GDF2
blood vessel morphogenesis (GO:0048514) -5.320.018ENG, GDF2
tissue morphogenesis (GO:0048729) -3.870.003ENG, ACVRL1, GDF2
epithelial tube morphogenesis (GO:0060562) -5.120.002ENG, ACVRL1, GDF2
positive regulation of epithelial cell differentiation (GO:0030858) -5.760.006ACVRL1, GDF2
regulation of BMP signaling pathway (GO:0030510) -5.360.001ENG, ACVRL1, GDF2
cellular response to endogenous stimulus (GO:0071495) -3.330.039ENG, ACVRL1, GDF2
negative regulation of cell proliferation (GO:0008285) -3.260.013ENG, ACVRL1, GDF2
regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090092) -4.390.011ENG, ACVRL1, GDF2
regulation of cell migration (GO:0030334) -3.230.008ENG, ACVRL1, GDF2
negative regulation of DNA metabolic process (GO:0051053) -4.980.019ACVRL1, GDF2
positive regulation of phosphate metabolic process (GO:0045937) -2.780.039ENG, ACVRL1, GDF2
negative regulation of DNA biosynthetic process (GO:2000279) -6.230.001ACVRL1, GDF2
regulation of DNA biosynthetic process (GO:2000278) -5.170.003ACVRL1, GDF2
positive regulation of phosphorylation (GO:0042327) -2.90.027ENG, ACVRL1, GDF2
negative regulation of blood vessel endothelial cell migration (GO:0043537) -6.550.001ACVRL1, GDF2
regulation of blood vessel endothelial cell migration (GO:0043535) -5.80.048ACVRL1, GDF2
regulation of locomotion (GO:0040012) -3.120.013ENG, ACVRL1, GDF2
negative regulation of cellular component movement (GO:0051271) -4.220.016ENG, ACVRL1, GDF2
cellular response to growth factor stimulus (GO:0071363) -4.270.01ENG, ACVRL1, GDF2
negative regulation of epithelial cell migration (GO:0010633) -5.760.006ACVRL1, GDF2
positive regulation of BMP signaling pathway (GO:0030513) -6.260.0ENG, ACVRL1, GDF2
transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178) -4.60.0ENG, ACVRL1, GDF2
vasculogenesis (GO:0001570) -5.650.014ENG, GDF2
negative regulation of locomotion (GO:0040013) -4.220.0ENG, ACVRL1, GDF2
regulation of cellular component movement (GO:0051270) -3.080.012ENG, ACVRL1, GDF2
regulation of epithelial cell proliferation (GO:0050678) -4.060.001ENG, ACVRL1, GDF2
regulation of endothelial cell migration (GO:0010594) -4.990.026ACVRL1, GDF2
negative regulation of endothelial cell migration (GO:0010596) -6.070.003ACVRL1, GDF2
positive regulation of protein modification process (GO:0031401) -2.70.037ENG, ACVRL1, GDF2
regulation of DNA replication (GO:0006275) -5.020.046ACVRL1, GDF2
regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393) -5.630.0ENG, ACVRL1, GDF2
positive regulation of endothelial cell proliferation (GO:0001938) -5.510.013ACVRL1, GDF2
regulation of cell motility (GO:2000145) -3.160.009ENG, ACVRL1, GDF2
response to BMP (GO:0071772) -6.170.009ACVRL1, GDF2
negative regulation of cell motility (GO:2000146) -4.360.014ENG, ACVRL1, GDF2
regulation of endothelial cell proliferation (GO:0001936) -5.140.0ENG, ACVRL1, GDF2
positive regulation of protein phosphorylation (GO:0001934) -2.950.017ENG, ACVRL1, GDF2
negative regulation of endothelial cell proliferation (GO:0001937) -6.260.0ENG, ACVRL1, GDF2
cellular response to BMP stimulus (GO:0071773) -6.170.009ACVRL1, GDF2
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
extracellular space (GO:0005615) 2.632ENG, GDF2
cell surface (GO:0009986) 3.442ENG, ACVRL1
membrane (GO:0016020) 0.682ENG, ACVRL1
cell part (GO:0044464) 0.112ENG, ACVRL1
extracellular region part (GO:0044421) 1.572ENG, GDF2
membrane part (GO:0044425) 0.952ENG, ACVRL1
plasma membrane part (GO:0044459) 1.952ENG, ACVRL1
integral component of membrane (GO:0016021) 1.142ENG, ACVRL1
intrinsic component of membrane (GO:0031224) 1.132ENG, ACVRL1