Disease table of ERYTHROCYTOSIS, FAMILIAL OMIM ID: PS133100

Gene-disease associations table

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Gene	Associated with ERYTHROCYTOSIS, FAMILIAL in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
EGLN1	ClinVar, OMIM, HUMSAVAR	HGNC link	1q42.2	2	609070, PS133100
EPAS1	ClinVar, OMIM, HUMSAVAR	HGNC link	2p21	1	PS133100
EPOR	ClinVar, OMIM, HUMSAVAR	HGNC link	19p13.2	2	133180, PS133100
JAK2	ClinVar, OMIM	HGNC link	9p24.1	5	263300, 601626, 254450, PS133100, PS187950
SH2B3	ClinVar, OMIM	HGNC link	12q24.12	3	PS187950, 254450, PS133100
VHL	ClinVar, OMIM, HUMSAVAR	HGNC link	3p25.3	4	193300, 144700, PS133100, 171300

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Tandem repeat annotations from DGD

Cytogenetic band analysis

Transcription Factors (TF) annotation from TRRUST

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TF	associated to this disease	# regulated genes	Regulated genes	# regulated genes associated with this disease	Regulated genes associated with this disease
EPAS1	YES	8	CA9, FLT1, MSC, MMP14, COL10A1, SERPINE1, CCR7, VEGFA	0
VHL	YES	18	CA9, STRA13, TCF4, TFRC, ANGPT2, CXCR4, CCND1, DAB2, KLF10, CDKN1C, CA12, TP53, NMU, HIF1A, SPARC, VEGFA, IGF1R, CDKN1B	0
SP1	NO	460	ITGB3, 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, ODC1	2	EPAS1, EPOR
HIF1A	NO	80	RORA, 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, HIF1A	2	VHL, EGLN1

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regulated gene	associated to this disease	# TFs	TFs	# TFs associated with this disease	TFs associated with this disease
EPOR	YES	4	SP1, GATA1, GATA3, TAL1	0
EPAS1	YES	6	SP1, YY1, HOXA1, RELA, SP3, HIF3A	0
EGLN1	YES	3	ETV4, HIF1A, SIRT1	0
VHL	YES	1	HIF1A	0
JAK2	YES	3	BRCA1, STAT3, STAT1	0
VEGFA	NO	53	ATM, 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, E2F3	2	EPAS1, VHL
CA9	NO	10	SP1, VHL, ARNT, ATF4, SP3, ETS1, EPAS1, AHR, EP300, HIF1A	2	EPAS1, VHL

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Interactions from BIOGRID - physical

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Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
EPOR	VHL	Yes	7	VHL, GNB2L1, SOCS3, TCEB2, JAK2, TCEB1, CUL2
EPOR	JAK2	Yes	14	VHL, PTPN11, PTPN6, PIK3R1, PLCG1, VAV1, JAK2, STAT5A, LYN, SOCS3, SH2B2, SRC, SHC1, GRB2
EPAS1	EGLN1	Yes	5	VHL, HIF1A, EPAS1, EGLN1, EGLN3
EPAS1	VHL	Yes	17	VHL, HIF1A, HSP90AA1, MCM7, PSMC3, DNAJA2, HSPA4, ELAVL1, TCEB2, UBC, STUB1, EGLN1, PSMB1, EPAS1, SP1, EP300, SIRT1
EGLN1	VHL	Yes	13	VHL, LIMD1, PLD1, GPLD1, PLD2, SPRY2, RHOBTB3, POLR2A, EGLN1, OSR1, EPAS1, FKBP8, HIF1A
VHL	JAK2	Yes	10	VHL, HSPA8, SOCS1, SOCS3, HSP90AA1, JAK2, SLC2A1, EPOR, DNAJA3, SKP2
EPOR	EPAS1	No	4	TCEB2, VHL, STAT5A, EGLN3
EPOR	EGLN1	No	3	SRC, VHL, EGLN3
EPOR	SH2B3	No	2	PLCG1, GRB2
EPAS1	JAK2	No	4	VHL, EMD, STAT5A, HSP90AA1

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

Interactions from BIOGRID - genetic

Interactions from STRING

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Gene1	Gene2	Direct Interaction	Interaction mode	Number of shared interactors	Shared genes in interaction
EPOR	JAK2	Yes	activation, binding	73	PLCG1, 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
EPOR	SH2B3	Yes	activation, inhibition	6	KIT, KITLG, JAK2, EPO, SOCS3, GRB2
EPAS1	EGLN1	Yes	activation, binding	7	VHL, ARNT, EGLN2, HIF3A, EGLN3, VEGFA, HIF1A
EPAS1	VHL	Yes	binding	20	HLF, HIF1A, RPS27A, RBX1, UBE2D1, EP300, UBA52, UBE2D2, TP53, TCEB2, CUL2, EGLN1, TCEB1, UBC, HIF1AN, UBB, SP1, HSP90AA1, VEGFA, HIF3A
EGLN1	VHL	Yes	binding	6	POLR2A, HIF3A, OSR1, EPAS1, VEGFA, HIF1A
JAK2	SH2B3	Yes	binding	8	KIT, KITLG, LCK, SH2B1, SOCS3, EPO, GRB2, EPOR
EPOR	EPAS1	No	-	5	EPO, FXN, CREBBP, UBC, SIRT1
EPOR	VHL	No	-	2	UBC, SOCS1
EPAS1	JAK2	No	-	4	EPO, UBC, HSP90AA1, RBX1
EPAS1	SH2B3	No	-	1	EPO

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

Interactions from CORUM

Gene1	Gene2	Direct Interaction	Complexes	Number of shared interactors	Shared genes in interaction
EGLN1	VHL	No	-	1	HIF1A

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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

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KEGG term	KEGG term ID	IC	Number of genes with the same term	Genes
Renal cell carcinoma	hsa05211	6.6	3	EPAS1, VHL, EGLN1
HIF-1 signaling pathway	hsa04066	5.9	2	VHL, EGLN1
Jak-STAT signaling pathway	hsa04630	5.44	2	JAK2, EPOR
PI3K-Akt signaling pathway	hsa04151	4.21	2	JAK2, EPOR
Pathways in cancer	hsa05200	3.98	3	VHL, EPAS1, EGLN1

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
Renal cell carcinoma (hsa05211)	-	6.6	0.001	EPAS1, VHL, JAK2, EGLN1
HIF-1 signaling pathway (hsa04066)	-	5.9	0.024	VHL, JAK2, EGLN1

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REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

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REACTOME term	REACTOME term ID	IC	Number of genes with the same term	Genes
Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha	R-HSA-1234176	8.89	3	VHL, EPAS1, EGLN1
Cellular response to hypoxia	R-HSA-2262749	8.4	3	VHL, EPAS1, EGLN1
Regulation of Hypoxia-inducible Factor (HIF) by oxygen	R-HSA-1234174	8.4	3	VHL, EPAS1, EGLN1
Factors involved in megakaryocyte development and platelet production	R-HSA-983231	5.88	2	SH2B3, JAK2
Signaling by SCF-KIT	R-HSA-1433557	4.73	2	SH2B3, JAK2
Cellular responses to stress	R-HSA-2262752	4.56	3	EPAS1, VHL, EGLN1
Hemostasis	R-HSA-109582	3.98	2	SH2B3, JAK2
Developmental Biology	R-HSA-1266738	3.48	2	EPAS1, JAK2
Immune System	R-HSA-168256	2.37	2	VHL, JAK2
Signal Transduction	R-HSA-162582	1.78	2	SH2B3, JAK2

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NET-GE enrichment

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Term	New enriched term	IC	Genes
Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha (R-HSA-1234176)	-	8.89	VHL, EPAS1, EGLN1
Cellular response to hypoxia (R-HSA-2262749)	-	8.4	VHL, EPAS1, EGLN1
Regulation of Hypoxia-inducible Factor (HIF) by oxygen (R-HSA-1234174)	-	8.4	VHL, EPAS1, EGLN1

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GO - molecular function annotation: shared terms / NET-GE enrichment

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GO	IC	Number of genes with the same GO	Genes
transcription factor binding (GO:0008134)	3.46	2	EPAS1, VHL
signal transducer activity (GO:0004871)	2.28	2	SH2B3, EPOR
enzyme binding (GO:0019899)	2.27	4	EPAS1, VHL, JAK2, EGLN1
transferase activity (GO:0016740)	1.95	2	VHL, JAK2
small molecule binding (GO:0036094)	1.89	2	JAK2, EGLN1
metal ion binding (GO:0046872)	1.41	2	JAK2, EGLN1
cation binding (GO:0043169)	1.4	2	JAK2, EGLN1
ion binding (GO:0043167)	1.36	2	JAK2, EGLN1
heterocyclic compound binding (GO:1901363)	1.06	2	EPAS1, JAK2
catalytic activity (GO:0003824)	1.05	3	VHL, JAK2, EGLN1

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
peptidyl-proline dioxygenase activity (GO:0031543)	NEW	7.25	0.002	EPAS1, EGLN1
enzyme binding (GO:0019899)	-	2.27	0.042	EPAS1, VHL, JAK2, EGLN1

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GO - biological process annotation: shared terms / NET-GE enrichment

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GO	IC	Number of genes with the same GO	Genes
regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)	6.26	3	VHL, EPAS1, EGLN1
erythrocyte differentiation (GO:0030218)	5.88	2	EPAS1, JAK2
regulation of transcription from RNA polymerase II promoter in response to stress (GO:0043618)	5.6	3	VHL, EPAS1, EGLN1
regulation of DNA-templated transcription in response to stress (GO:0043620)	5.52	3	EPAS1, VHL, EGLN1
hemopoiesis (GO:0030097)	5.07	2	EPAS1, SH2B3
embryonic organ development (GO:0048568)	4.86	2	EPAS1, SH2B3
negative regulation of neuron apoptotic process (GO:0043524)	4.82	2	JAK2, EPOR
myeloid cell differentiation (GO:0030099)	4.63	2	EPAS1, JAK2
negative regulation of neuron death (GO:1901215)	4.57	2	JAK2, EPOR
positive regulation of cytosolic calcium ion concentration (GO:0007204)	4.56	2	JAK2, EPOR

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
cellular response to erythropoietin (GO:0036018)	NEW	8.63	0.002	JAK2, EPOR
response to erythropoietin (GO:0036017)	NEW	8.63	0.002	JAK2, EPOR
negative regulation of myeloid cell apoptotic process (GO:0033033)	NEW	7.09	0.036	JAK2, EPOR
protein hydroxylation (GO:0018126)	NEW	6.84	0.042	EPAS1, EGLN1
regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)	-	6.26	0.0	VHL, EPAS1, EGLN1
regulation of transcription from RNA polymerase II promoter in response to stress (GO:0043618)	-	5.6	0.0	EPAS1, VHL, EGLN1
regulation of DNA-templated transcription in response to stress (GO:0043620)	-	5.52	0.0	VHL, EPAS1, EGLN1
cellular response to hypoxia (GO:0071456)	NEW	5.11	0.002	EPAS1, VHL, EGLN1
cellular response to decreased oxygen levels (GO:0036294)	NEW	5.05	0.002	EPAS1, VHL, EGLN1
cellular response to oxygen levels (GO:0071453)	NEW	4.97	0.002	EPAS1, VHL, EGLN1

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GO - cellular component annotation: shared terms / NET-GE enrichment

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GO	IC	Number of genes with the same GO	Genes
plasma membrane part (GO:0044459)	1.95	2	JAK2, EPOR
nucleoplasm (GO:0005654)	1.89	3	VHL, EPAS1, JAK2
cytosol (GO:0005829)	1.68	6	VHL, JAK2, EGLN1, EPAS1, SH2B3, EPOR
nuclear part (GO:0044428)	1.55	3	VHL, EPAS1, JAK2
protein complex (GO:0043234)	1.51	2	VHL, EPAS1
macromolecular complex (GO:0032991)	1.35	2	VHL, EPAS1
nucleus (GO:0005634)	1.07	4	EPAS1, VHL, JAK2, EGLN1
cytoplasm (GO:0005737)	1.01	4	VHL, EPAS1, JAK2, EGLN1
membrane part (GO:0044425)	0.95	2	JAK2, EPOR
cytoplasmic part (GO:0044444)	0.82	6	VHL, JAK2, EGLN1, EPAS1, SH2B3, EPOR

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
cornified envelope (GO:0001533)	NEW	5.97	0.007	VHL, JAK2
cytosol (GO:0005829)	-	1.68	0.01	VHL, EPAS1, SH2B3, JAK2, EGLN1

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