Disease table of ERYTHROCYTOSIS, FAMILIAL OMIM ID: PS133100

Gene-disease associations table

GeneAssociated with ERYTHROCYTOSIS, FAMILIAL inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
EPORClinVar, OMIM, HUMSAVARHGNC link19p13.22133180, PS133100
EPAS1ClinVar, OMIM, HUMSAVARHGNC link2p211PS133100
EGLN1ClinVar, OMIM, HUMSAVARHGNC link1q42.22609070, PS133100
VHLClinVar, OMIM, HUMSAVARHGNC link3p25.34193300, 144700, PS133100, 171300
JAK2ClinVar, OMIMHGNC link9p24.15263300, 601626, 254450, PS133100, PS187950
SH2B3ClinVar, OMIMHGNC link12q24.123PS187950, 254450, PS133100

Download the disease annotation in CSV format

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
EPAS1YES8CA9, FLT1, MSC, MMP14, COL10A1, SERPINE1, CCR7, VEGFA0
VHLYES18CA9, STRA13, TCF4, TFRC, ANGPT2, CXCR4, CCND1, DAB2, KLF10, CDKN1C, CA12, TP53, NMU, HIF1A, SPARC, VEGFA, IGF1R, CDKN1B0
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, ODC12EPAS1, EPOR
HIF1ANO80RORA, SERPINE1, MICA, MET, WASF3, PLAU, AR, TWIST1, FAM162A, MMP2, SLC2A1, PFKFB4, EDN1, PGK1, LOX, HBEGF, FGF2, SETD2, XPC, ACE, MDK, ACE2, ERCC2, GCK, TLR2, ALOX5AP, LDHA, CXCR4, SOCS1, PPP1R3C, EDNRB, EGLN1, ALDOA, SLC29A1, AGTR1, PFKFB3, LEP, PPARA, ENO1, VHL, TWIST2, E2F3, PTGES, GAPDH, BID, MIF, CA9, CDH1, TIMP2, VIM, ALAS2, ITGB2, NT5E, CTGF, TLR6, CCR7, VEGFB, APEX1, MUC3A, EPO, MUC1, TFRC, BAX, ABCB1, NR3C1, BNIP3, RECK, TGFB3, ASS1, NR4A1, MYOCD, EGLN3, TERT, SDHB, BACE1, ZNF217, CCND1, VEGFA, CXCL12, HIF1A2VHL, EGLN1
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
EPORYES4SP1, GATA1, GATA3, TAL10
EPAS1YES6SP1, YY1, HOXA1, RELA, SP3, HIF3A0
EGLN1YES3ETV4, HIF1A, SIRT10
VHLYES1HIF1A0
JAK2YES3BRCA1, STAT3, STAT10
VEGFANO53ATM, WT1, AR, FOXM1, ID3, ATF4, COPS5, TFAP2A, EPAS1, PGR, RUNX1, SP1, NKX3-1, TEAD4, ARNT, EGR1, EP300, KLF5, MYC, SMAD3, HDGF, HTATIP2, DNMT1, FOXO3, HIPK2, ZFP36, HEXIM1, VHL, ZFP36L1, XBP1, ESR2, NR1H4, HOXB7, JUN, ZNF24, TP53, RELA, HDAC4, RUNX2, NFKB1, BRCA1, FOXQ1, E2F1, STAT3, UHRF1, TCF4, PTTG1, ZNRD1, HIF1A, ESR1, SP3, MEF2C, E2F32EPAS1, VHL
CA9NO10SP1, VHL, ARNT, ATF4, SP3, ETS1, EPAS1, AHR, EP300, HIF1A2EPAS1, VHL
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
EPOREPAS1No4TCEB2, VHL, STAT5A, EGLN3
EPOREGLN1No3SRC, VHL, EGLN3
EPORVHLYes7VHL, GNB2L1, SOCS3, TCEB2, JAK2, TCEB1, CUL2
EPORJAK2Yes14VHL, PTPN11, PTPN6, PIK3R1, PLCG1, VAV1, JAK2, STAT5A, LYN, SOCS3, SH2B2, SRC, SHC1, GRB2
EPORSH2B3No2PLCG1, GRB2
EPAS1EGLN1Yes5VHL, HIF1A, EPAS1, EGLN1, EGLN3
EPAS1VHLYes17VHL, HIF1A, HSP90AA1, MCM7, PSMC3, DNAJA2, HSPA4, ELAVL1, TCEB2, UBC, STUB1, EGLN1, PSMB1, EPAS1, SP1, EP300, SIRT1
EPAS1JAK2No4VHL, EMD, STAT5A, HSP90AA1
EPAS1SH2B3No1ELAVL1
EGLN1VHLYes13VHL, LIMD1, PLD1, GPLD1, PLD2, SPRY2, RHOBTB3, POLR2A, EGLN1, OSR1, EPAS1, FKBP8, HIF1A
EGLN1JAK2No2SRC, VHL
VHLJAK2Yes10VHL, HSPA8, SOCS1, SOCS3, HSP90AA1, JAK2, SLC2A1, EPOR, DNAJA3, SKP2
VHLSH2B3No2FLNA, ELAVL1
JAK2SH2B3No5EGFR, ERBB2, ERBB3, PLCG1, GRB2

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
EPOREPAS1No-5EPO, FXN, CREBBP, UBC, SIRT1
EPORVHLNo-2UBC, SOCS1
EPORJAK2Yesactivation, binding73PLCG1, OSM, IFNA5, PRL, IL12A, SOCS1, PTPN1, IFNG, EPO, IFNA16, LYN, SOS1, RAP1A, KIT, SOCS2, CRKL, CSF2, IL7, GRB2, IFNA14, IFNA1, KITLG, GH2, GH1, IFNA4, SOCS4, IL6, SOCS3, IFNA17, IFNA10, IFNA7, IFNA2, SHC1, SH2B3, INPP5D, TLR4, IL19, IFNA21, STAT5A, IFNB1, CISH, IL2, CSH2, TYK2, IFNA6, STAT5B, IFNA13, SOCS7, SOCS5, SRC, CBLB, JAK1, NFKB1, VAV2, IL24, PIK3R1, CSH1, IL3, IL23A, VAV1, TEC, CBLC, IL5, CSF3, IFNA8, IRS2, IL4, UBC, IL11, GAB1, LEP, CBL, PTPN11
EPORSH2B3Yesactivation, inhibition6KIT, KITLG, JAK2, EPO, SOCS3, GRB2
EPAS1EGLN1Yesactivation, binding7VHL, ARNT, EGLN2, HIF3A, EGLN3, VEGFA, HIF1A
EPAS1VHLYesbinding20HLF, HIF1A, RPS27A, RBX1, UBE2D1, EP300, UBA52, UBE2D2, TP53, TCEB2, CUL2, EGLN1, TCEB1, UBC, HIF1AN, UBB, SP1, HSP90AA1, VEGFA, HIF3A
EPAS1JAK2No-4EPO, UBC, HSP90AA1, RBX1
EPAS1SH2B3No-1EPO
EGLN1VHLYesbinding6POLR2A, HIF3A, OSR1, EPAS1, VEGFA, HIF1A
EGLN1JAK2No-1PHLPP1
VHLJAK2No-5UBC, MYC, SOCS1, HSP90AA1, RBX1
JAK2SH2B3Yesbinding8KIT, KITLG, LCK, SH2B1, SOCS3, EPO, GRB2, EPOR

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

Interactions from CORUM
Gene1Gene2Direct InteractionComplexesNumber of shared interactorsShared genes in interaction
EGLN1VHLNo-1HIF1A

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

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
Renal cell carcinomahsa052116.63EPAS1, VHL, EGLN1
Pathways in cancerhsa052003.983VHL, EPAS1, EGLN1
HIF-1 signaling pathwayhsa040665.92VHL, EGLN1
PI3K-Akt signaling pathwayhsa041514.212JAK2, EPOR
Jak-STAT signaling pathwayhsa046305.442JAK2, EPOR

NET-GE enrichment

Term New enriched termICP valueGenes
HIF-1 signaling pathway (hsa04066) -5.90.024VHL, JAK2, EGLN1
Renal cell carcinoma (hsa05211) -6.60.001EPAS1, VHL, JAK2, EGLN1
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Cellular response to hypoxiaR-HSA-22627498.43VHL, EPAS1, EGLN1
Regulation of Hypoxia-inducible Factor (HIF) by oxygenR-HSA-12341748.43VHL, EPAS1, EGLN1
Cellular responses to stressR-HSA-22627524.563EPAS1, VHL, EGLN1
Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor AlphaR-HSA-12341768.893VHL, EPAS1, EGLN1
Immune SystemR-HSA-1682562.372VHL, JAK2
Signaling by SCF-KITR-HSA-14335574.732SH2B3, JAK2
Developmental BiologyR-HSA-12667383.482EPAS1, JAK2
Factors involved in megakaryocyte development and platelet productionR-HSA-9832315.882SH2B3, JAK2
HemostasisR-HSA-1095823.982SH2B3, JAK2
Signal TransductionR-HSA-1625821.782SH2B3, JAK2

NET-GE enrichment

Term New enriched termICP valueGenes
Cellular response to hypoxia (R-HSA-2262749) -8.40.0VHL, EPAS1, EGLN1
Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha (R-HSA-1234176) -8.890.0VHL, EPAS1, EGLN1
Regulation of Hypoxia-inducible Factor (HIF) by oxygen (R-HSA-1234174) -8.40.0VHL, EPAS1, EGLN1
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.186VHL, JAK2, EGLN1, EPAS1, SH2B3, EPOR
protein binding (GO:0005515) 0.466VHL, JAK2, EGLN1, EPAS1, SH2B3, EPOR
enzyme binding (GO:0019899) 2.274EPAS1, VHL, JAK2, EGLN1
catalytic activity (GO:0003824) 1.053VHL, JAK2, EGLN1
cation binding (GO:0043169) 1.42JAK2, EGLN1
organic cyclic compound binding (GO:0097159) 1.052EPAS1, JAK2
transcription factor binding (GO:0008134) 3.462EPAS1, VHL
ion binding (GO:0043167) 1.362JAK2, EGLN1
small molecule binding (GO:0036094) 1.892JAK2, EGLN1
transferase activity (GO:0016740) 1.952VHL, JAK2
signal transducer activity (GO:0004871) 2.282SH2B3, EPOR
metal ion binding (GO:0046872) 1.412JAK2, EGLN1
heterocyclic compound binding (GO:1901363) 1.062EPAS1, JAK2

NET-GE enrichment

Term New enriched termICP valueGenes
peptidyl-proline dioxygenase activity (GO:0031543) NEW7.250.002EPAS1, EGLN1
enzyme binding (GO:0019899) -2.270.042EPAS1, VHL, JAK2, EGLN1
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
developmental process (GO:0032502) 1.366VHL, JAK2, EGLN1, EPAS1, SH2B3, EPOR
cellular process (GO:0009987) 0.266VHL, JAK2, EGLN1, EPAS1, SH2B3, EPOR
regulation of cellular process (GO:0050794) 0.56VHL, JAK2, EGLN1, EPAS1, SH2B3, EPOR
single-organism developmental process (GO:0044767) 1.496VHL, JAK2, EGLN1, EPAS1, SH2B3, EPOR
single-organism cellular process (GO:0044763) 0.656VHL, JAK2, EGLN1, EPAS1, SH2B3, EPOR
biological regulation (GO:0065007) 0.396VHL, JAK2, EGLN1, EPAS1, SH2B3, EPOR
regulation of biological quality (GO:0065008) 1.686VHL, JAK2, EGLN1, EPAS1, SH2B3, EPOR
regulation of biological process (GO:0050789) 0.456VHL, JAK2, EGLN1, EPAS1, SH2B3, EPOR
single-organism process (GO:0044699) 0.486VHL, JAK2, EGLN1, EPAS1, SH2B3, EPOR
regulation of primary metabolic process (GO:0080090) 1.085VHL, JAK2, EPAS1, EGLN1, EPOR
regulation of metabolic process (GO:0019222) 1.025VHL, JAK2, EPAS1, EGLN1, EPOR
regulation of macromolecule metabolic process (GO:0060255) 1.085VHL, JAK2, EPAS1, EGLN1, EPOR
anatomical structure development (GO:0048856) 1.585EPAS1, JAK2, SH2B3, EGLN1, EPOR
regulation of cellular metabolic process (GO:0031323) 1.075VHL, JAK2, EPAS1, EGLN1, EPOR
positive regulation of biological process (GO:0048518) 1.25VHL, EPAS1, SH2B3, JAK2, EPOR
positive regulation of cellular process (GO:0048522) 1.35EPAS1, VHL, SH2B3, JAK2, EPOR
positive regulation of metabolic process (GO:0009893) 1.744EPAS1, VHL, JAK2, EPOR
regulation of cellular biosynthetic process (GO:0031326) 1.384VHL, EPAS1, JAK2, EGLN1
positive regulation of cellular metabolic process (GO:0031325) 1.814VHL, EPAS1, JAK2, EPOR
homeostatic process (GO:0042592) 2.614EPAS1, JAK2, EGLN1, EPOR
signal transduction (GO:0007165) 1.284EPAS1, SH2B3, JAK2, EPOR
macromolecule metabolic process (GO:0043170) 0.834EPAS1, VHL, JAK2, EGLN1
cellular response to stimulus (GO:0051716) 1.974VHL, EPAS1, JAK2, EGLN1
positive regulation of macromolecule metabolic process (GO:0010604) 1.814VHL, EPAS1, JAK2, EPOR
cellular macromolecule metabolic process (GO:0044260) 0.934VHL, EPAS1, JAK2, EGLN1
cellular developmental process (GO:0048869) 1.824VHL, EPAS1, SH2B3, JAK2
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.464EPAS1, VHL, JAK2, EGLN1
organic substance metabolic process (GO:0071704) 0.634EPAS1, VHL, JAK2, EGLN1
negative regulation of biological process (GO:0048519) 1.334VHL, JAK2, EGLN1, EPOR
regulation of gene expression (GO:0010468) 1.374EPAS1, VHL, JAK2, EGLN1
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.434EPAS1, VHL, JAK2, EGLN1
regulation of biosynthetic process (GO:0009889) 1.374VHL, EPAS1, JAK2, EGLN1
regulation of nucleic acid-templated transcription (GO:1903506) 1.554VHL, EPAS1, JAK2, EGLN1
response to stress (GO:0006950) 1.84EPAS1, VHL, JAK2, EGLN1
regulation of nitrogen compound metabolic process (GO:0051171) 1.364EPAS1, VHL, JAK2, EGLN1
regulation of multicellular organismal process (GO:0051239) 1.874EPAS1, JAK2, EGLN1, EPOR
regulation of RNA biosynthetic process (GO:2001141) 1.554VHL, EPAS1, JAK2, EGLN1
metabolic process (GO:0008152) 0.584VHL, EPAS1, JAK2, EGLN1
primary metabolic process (GO:0044238) 0.694VHL, EPAS1, JAK2, EGLN1
response to stimulus (GO:0050896) 1.224VHL, EPAS1, JAK2, EGLN1
regulation of RNA metabolic process (GO:0051252) 1.524EPAS1, VHL, JAK2, EGLN1
cellular metabolic process (GO:0044237) 0.694VHL, EPAS1, JAK2, EGLN1
chemical homeostasis (GO:0048878) 2.974EPAS1, JAK2, EGLN1, EPOR
regulation of transcription, DNA-templated (GO:0006355) 1.564VHL, EPAS1, JAK2, EGLN1
regulation of macromolecule biosynthetic process (GO:0010556) 1.434EPAS1, VHL, JAK2, EGLN1
cellular response to stress (GO:0033554) 2.514EPAS1, VHL, JAK2, EGLN1
negative regulation of cellular process (GO:0048523) 1.414VHL, JAK2, EGLN1, EPOR
regulation of phosphate metabolic process (GO:0019220) 2.353JAK2, EGLN1, EPOR
positive regulation of biosynthetic process (GO:0009891) 2.293EPAS1, VHL, JAK2
ion homeostasis (GO:0050801) 3.423EPAS1, JAK2, EPOR
positive regulation of response to stimulus (GO:0048584) 2.183SH2B3, JAK2, EPOR
regulation of response to stimulus (GO:0048583) 1.543SH2B3, JAK2, EPOR
positive regulation of signaling (GO:0023056) 2.413SH2B3, JAK2, EPOR
multicellular organismal process (GO:0032501) 1.453EPAS1, SH2B3, JAK2
cellular component organization (GO:0016043) 1.243EPAS1, VHL, JAK2
regulation of signaling (GO:0023051) 1.723SH2B3, JAK2, EPOR
inorganic ion homeostasis (GO:0098771) 3.433EPAS1, JAK2, EPOR
positive regulation of cell communication (GO:0010647) 2.413SH2B3, JAK2, EPOR
regulation of cell communication (GO:0010646) 1.733SH2B3, JAK2, EPOR
regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418) 6.263VHL, EPAS1, EGLN1
cellular component organization or biogenesis (GO:0071840) 1.223VHL, EPAS1, JAK2
cellular protein metabolic process (GO:0044267) 1.633VHL, JAK2, EGLN1
regulation of cell death (GO:0010941) 2.433VHL, JAK2, EPOR
regulation of signal transduction (GO:0009966) 1.843SH2B3, JAK2, EPOR
positive regulation of signal transduction (GO:0009967) 2.53SH2B3, JAK2, EPOR
regulation of apoptotic process (GO:0042981) 2.53VHL, JAK2, EPOR
positive regulation of cellular biosynthetic process (GO:0031328) 2.33VHL, EPAS1, JAK2
regulation of transcription from RNA polymerase II promoter in response to stress (GO:0043618) 5.63VHL, EPAS1, EGLN1
regulation of programmed cell death (GO:0043067) 2.493VHL, JAK2, EPOR
negative regulation of apoptotic process (GO:0043066) 3.043VHL, JAK2, EPOR
negative regulation of programmed cell death (GO:0043069) 3.023VHL, JAK2, EPOR
regulation of cell proliferation (GO:0042127) 2.413VHL, JAK2, EPOR
cell differentiation (GO:0030154) 2.143EPAS1, SH2B3, JAK2
negative regulation of cell death (GO:0060548) 2.953VHL, JAK2, EPOR
cellular protein modification process (GO:0006464) 1.793VHL, JAK2, EGLN1
regulation of phosphorus metabolic process (GO:0051174) 2.353JAK2, EGLN1, EPOR
reproductive process (GO:0022414) 2.553EPAS1, EGLN1, EPOR
macromolecule modification (GO:0043412) 1.733VHL, JAK2, EGLN1
protein modification process (GO:0036211) 1.793VHL, JAK2, EGLN1
metal ion homeostasis (GO:0055065) 3.613EPAS1, JAK2, EPOR
positive regulation of nitrogen compound metabolic process (GO:0051173) 2.293VHL, EPAS1, JAK2
cation homeostasis (GO:0055080) 3.463EPAS1, JAK2, EPOR
response to chemical (GO:0042221) 1.983EPAS1, JAK2, EGLN1
response to oxidative stress (GO:0006979) 3.93EPAS1, JAK2, EGLN1
regulation of DNA-templated transcription in response to stress (GO:0043620) 5.523EPAS1, VHL, EGLN1
positive regulation of cell differentiation (GO:0045597) 3.013VHL, JAK2, EPOR
animal organ development (GO:0048513) 2.533EPAS1, SH2B3, EPOR
single-multicellular organism process (GO:0044707) 1.783EPAS1, SH2B3, JAK2
developmental process involved in reproduction (GO:0003006) 3.363EPAS1, EGLN1, EPOR
protein metabolic process (GO:0019538) 1.453VHL, JAK2, EGLN1
regulation of cell differentiation (GO:0045595) 2.423VHL, JAK2, EPOR
positive regulation of macromolecule biosynthetic process (GO:0010557) 2.393VHL, EPAS1, JAK2
regulation of transcription from RNA polymerase II promoter (GO:0006357) 2.243VHL, EPAS1, EGLN1
positive regulation of nucleic acid-templated transcription (GO:1903508) 2.562EPAS1, VHL
negative regulation of cellular metabolic process (GO:0031324) 2.012VHL, EGLN1
negative regulation of metabolic process (GO:0009892) 1.932VHL, EGLN1
cytokine-mediated signaling pathway (GO:0019221) 3.62JAK2, EPOR
cellular divalent inorganic cation homeostasis (GO:0072503) 3.962JAK2, EPOR
embryonic organ development (GO:0048568) 4.862EPAS1, SH2B3
blood coagulation (GO:0007596) 4.522SH2B3, JAK2
regulation of developmental process (GO:0050793) 2.12EGLN1, EPOR
positive regulation of cytosolic calcium ion concentration (GO:0007204) 4.562JAK2, EPOR
regulation of protein modification process (GO:0031399) 2.322JAK2, EPOR
regulation of neuron apoptotic process (GO:0043523) 4.472JAK2, EPOR
negative regulation of neuron apoptotic process (GO:0043524) 4.822JAK2, EPOR
calcium ion homeostasis (GO:0055074) 3.972JAK2, EPOR
cell surface receptor signaling pathway (GO:0007166) 2.092JAK2, EPOR
hemostasis (GO:0007599) 4.52SH2B3, JAK2
intracellular signal transduction (GO:0035556) 2.392SH2B3, JAK2
response to hypoxia (GO:0001666) 4.132EPAS1, EGLN1
regulation of hydrolase activity (GO:0051336) 2.532JAK2, EGLN1
regulation of MAPK cascade (GO:0043408) 3.222JAK2, EPOR
divalent inorganic cation homeostasis (GO:0072507) 3.92JAK2, EPOR
single-organism metabolic process (GO:0044710) 1.632JAK2, EGLN1
regulation of intracellular signal transduction (GO:1902531) 2.312JAK2, EPOR
positive regulation of phosphate metabolic process (GO:0045937) 2.782JAK2, EPOR
regulation of system process (GO:0044057) 3.532EPAS1, JAK2
anatomical structure morphogenesis (GO:0009653) 2.532VHL, EGLN1
positive regulation of phosphorus metabolic process (GO:0010562) 2.782JAK2, EPOR
regulation of protein metabolic process (GO:0051246) 1.932JAK2, EPOR
positive regulation of protein metabolic process (GO:0051247) 2.432JAK2, EPOR
peptidyl-amino acid modification (GO:0018193) 2.982JAK2, EGLN1
erythrocyte differentiation (GO:0030218) 5.882EPAS1, JAK2
regulation of cellular protein metabolic process (GO:0032268) 1.992JAK2, EPOR
positive regulation of cellular protein metabolic process (GO:0032270) 2.492JAK2, EPOR
negative regulation of molecular function (GO:0044092) 2.742JAK2, EGLN1
cellular homeostasis (GO:0019725) 3.232JAK2, EPOR
regulation of molecular function (GO:0065009) 1.782JAK2, EGLN1
anatomical structure formation involved in morphogenesis (GO:0048646) 3.012EPAS1, EGLN1
positive regulation of cell proliferation (GO:0008284) 3.012JAK2, EPOR
negative regulation of cell proliferation (GO:0008285) 3.262VHL, JAK2
regulation of heart contraction (GO:0008016) 4.352EPAS1, JAK2
positive regulation of nucleobase-containing compound metabolic process (GO:0045935) 2.352EPAS1, VHL
negative regulation of nucleobase-containing compound metabolic process (GO:0045934) 2.552VHL, EGLN1
regulation of body fluid levels (GO:0050878) 3.762SH2B3, JAK2
cellular metal ion homeostasis (GO:0006875) 3.752JAK2, EPOR
cellular calcium ion homeostasis (GO:0006874) 4.012JAK2, EPOR
regulation of catalytic activity (GO:0050790) 1.972JAK2, EGLN1
tissue development (GO:0009888) 3.272JAK2, EPOR
cellular ion homeostasis (GO:0006873) 3.572JAK2, EPOR
positive regulation of MAPK cascade (GO:0043410) 3.572JAK2, EPOR
positive regulation of gene expression (GO:0010628) 2.352EPAS1, VHL
single organism reproductive process (GO:0044702) 2.732EPAS1, EGLN1
regulation of blood circulation (GO:1903522) 4.052EPAS1, JAK2
response to oxygen-containing compound (GO:1901700) 2.572JAK2, EGLN1
negative regulation of nitrogen compound metabolic process (GO:0051172) 2.472VHL, EGLN1
positive regulation of intracellular signal transduction (GO:1902533) 2.952JAK2, EPOR
regulation of neuron death (GO:1901214) 4.192JAK2, EPOR
negative regulation of neuron death (GO:1901215) 4.572JAK2, EPOR
hematopoietic or lymphoid organ development (GO:0048534) 4.492EPAS1, SH2B3
response to oxygen levels (GO:0070482) 4.022EPAS1, EGLN1
regulation of phosphorylation (GO:0042325) 2.52JAK2, EPOR
response to abiotic stimulus (GO:0009628) 2.82EPAS1, EGLN1
positive regulation of phosphorylation (GO:0042327) 2.92JAK2, EPOR
regulation of sequence-specific DNA binding transcription factor activity (GO:0051090) 3.832JAK2, EGLN1
organonitrogen compound metabolic process (GO:1901564) 2.322EPAS1, EGLN1
coagulation (GO:0050817) 4.512SH2B3, JAK2
regulation of cytosolic calcium ion concentration (GO:0051480) 4.412JAK2, EPOR
response to decreased oxygen levels (GO:0036293) 4.092EPAS1, EGLN1
regulation of response to stress (GO:0080134) 2.532JAK2, EPOR
positive regulation of protein modification process (GO:0031401) 2.72JAK2, EPOR
positive regulation of RNA metabolic process (GO:0051254) 2.512EPAS1, VHL
cellular cation homeostasis (GO:0030003) 3.62JAK2, EPOR
positive regulation of protein phosphorylation (GO:0001934) 2.952JAK2, EPOR
positive regulation of RNA biosynthetic process (GO:1902680) 2.542EPAS1, VHL
nitrogen compound metabolic process (GO:0006807) 1.132EPAS1, EGLN1
regulation of multicellular organismal development (GO:2000026) 2.312EGLN1, EPOR
myeloid cell differentiation (GO:0030099) 4.632EPAS1, JAK2
cellular chemical homeostasis (GO:0055082) 3.42JAK2, EPOR
hemopoiesis (GO:0030097) 5.072EPAS1, SH2B3
regulation of protein phosphorylation (GO:0001932) 2.572JAK2, EPOR
positive regulation of multicellular organismal process (GO:0051240) 2.492JAK2, EPOR
positive regulation of transcription, DNA-templated (GO:0045893) 2.562EPAS1, VHL

NET-GE enrichment

Term New enriched termICP valueGenes
cellular response to erythropoietin (GO:0036018) NEW8.630.002JAK2, EPOR
protein maturation (GO:0051604) NEW4.480.029EPAS1, VHL, JAK2, EPOR
response to decreased oxygen levels (GO:0036293) -4.090.025VHL, EPAS1, EGLN1
response to erythropoietin (GO:0036017) NEW8.630.002JAK2, EPOR
regulation of transcription from RNA polymerase II promoter in response to stress (GO:0043618) -5.60.0EPAS1, VHL, EGLN1
response to oxygen levels (GO:0070482) -4.020.03VHL, EPAS1, EGLN1
cellular response to oxygen levels (GO:0071453) NEW4.970.002EPAS1, VHL, EGLN1
protein hydroxylation (GO:0018126) NEW6.840.042EPAS1, EGLN1
cellular response to decreased oxygen levels (GO:0036294) NEW5.050.002EPAS1, VHL, EGLN1
cellular response to chemical stimulus (GO:0070887) NEW2.570.043VHL, JAK2, EPAS1, EGLN1, EPOR
cellular response to hypoxia (GO:0071456) NEW5.110.002EPAS1, VHL, EGLN1
protein processing (GO:0016485) NEW4.620.019EPAS1, VHL, JAK2, EPOR
response to hypoxia (GO:0001666) -4.130.024VHL, EPAS1, EGLN1
regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418) -6.260.0VHL, EPAS1, EGLN1
response to oxidative stress (GO:0006979) -3.90.045EPAS1, JAK2, EGLN1
negative regulation of myeloid cell apoptotic process (GO:0033033) NEW7.090.036JAK2, EPOR
regulation of DNA-templated transcription in response to stress (GO:0043620) -5.520.0VHL, EPAS1, EGLN1
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
intracellular part (GO:0044424) 0.286VHL, JAK2, EGLN1, EPAS1, SH2B3, EPOR
cytosol (GO:0005829) 1.686VHL, JAK2, EGLN1, EPAS1, SH2B3, EPOR
cell part (GO:0044464) 0.116VHL, JAK2, EGLN1, EPAS1, SH2B3, EPOR
cytoplasmic part (GO:0044444) 0.826VHL, JAK2, EGLN1, EPAS1, SH2B3, EPOR
cytoplasm (GO:0005737) 1.014VHL, EPAS1, JAK2, EGLN1
intracellular membrane-bounded organelle (GO:0043231) 0.64VHL, EPAS1, JAK2, EGLN1
nucleus (GO:0005634) 1.074EPAS1, VHL, JAK2, EGLN1
intracellular organelle (GO:0043229) 0.514VHL, EPAS1, JAK2, EGLN1
membrane-bounded organelle (GO:0043227) 0.474VHL, EPAS1, JAK2, EGLN1
organelle (GO:0043226) 0.44VHL, EPAS1, JAK2, EGLN1
nucleoplasm (GO:0005654) 1.893VHL, EPAS1, JAK2
intracellular organelle part (GO:0044446) 0.813EPAS1, VHL, JAK2
membrane (GO:0016020) 0.683VHL, JAK2, EPOR
nuclear part (GO:0044428) 1.553VHL, EPAS1, JAK2
organelle part (GO:0044422) 0.793EPAS1, VHL, JAK2
protein complex (GO:0043234) 1.512VHL, EPAS1
macromolecular complex (GO:0032991) 1.352VHL, EPAS1
plasma membrane part (GO:0044459) 1.952JAK2, EPOR
membrane part (GO:0044425) 0.952JAK2, EPOR

NET-GE enrichment

Term New enriched termICP valueGenes
cytosol (GO:0005829) -1.680.01VHL, EPAS1, SH2B3, JAK2, EGLN1
cornified envelope (GO:0001533) NEW5.970.007VHL, JAK2