Disease table of COWDEN DISEASE OMIM ID: PS158350

Gene-disease associations table

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Gene	Associated with COWDEN DISEASE in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
AKT1	ClinVar, OMIM, HUMSAVAR	HGNC link	14q32.33	6	167000, 176920, 114480, 181500, 114500, PS158350
KLLN	ClinVar, OMIM	HGNC link	10q23.31	1	PS158350
PIK3CA	ClinVar, OMIM, HUMSAVAR	HGNC link	3q26.32	11	114550, PS158350, 167000, 612918, 211980, 114480, 602501, 114500, 182000, 162900, 613659
PTEN	ClinVar, OMIM, HUMSAVAR	HGNC link	10q23.31	10	276950, 608089, 275355, 176807, PS155600, PS137800, 605309, 607174, 153480, PS158350
SDHB	ClinVar, OMIM	HGNC link	1p36.13	6	171300, 604287, 606764, 606864, PS168000, PS158350
SDHD	ClinVar, OMIM	HGNC link	11q23.1	6	252011, PS168000, 606864, 114900, 171300, PS158350
SEC23B	ClinVar, OMIM	HGNC link	20p11.23	2	PS224120, PS158350

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Relations among genes:

Tandem repeat annotations from DGD

Cytogenetic band analysis

By sub-band

Shared sub_band	Number of genes associated with the disease	Genes associated with the disease
10q23.31	2	KLLN, PTEN

By band

Shared band	Number of genes associated with the disease	Genes associated with the disease
10q23	2	KLLN, PTEN

By region

Shared region	Number of genes associated with the disease	Genes associated with the disease
10q2	2	KLLN, PTEN

By arm

Shared arm	Number of genes associated with the disease	Genes associated with the disease
10q	2	KLLN, PTEN

By chromosome

Shared chromosome	Number of genes associated with the disease	Genes associated with the disease
10	2	KLLN, PTEN

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
STAT3	NO	129	IFNG, MMP2, CCND3, EGFR, GAST, VEGFA, CHI3L1, CYP19A1, HAMP, POU2F1, COPS5, SLC9A3, IL11, SAA1, F2R, HP, IL10, PIAS3, CDK4, AKT1, CXCL8, OAS1, IL2, LTBP1, PTPN6, TP63, FAAH, MMP9, FLT3, JUNB, ZFP36, BCL2L1, CCL11, FGF1, TWIST2, JAK2, CFLAR, NR0B1, FGF2, MMP7, PTGS2, CCND2, MCL1, UCP2, SOCS3, CFB, HSPB1, HGF, NOX5, NOSTRIN, ESR2, CISH, IKBKE, JAK3, MMP1, CDH1, TIMP1, CYR61, CCL20, CRP, CD46, TRH, IRF1, TERT, ETV6, HIF1A, NANOG, NME1, TYK2, OPRM1, MDC1, A2M, FOS, PHB, IL2RA, OSM, MUC4, CCND1, NDUFA13, SOCS1, MMP14, SHH, IFNAR1, PRDM1, FGG, CSRP1, GFAP, TWIST1, PTEN, ICAM1, VEGFB, LEP, USP7, IL1RN, BST2, HMOX1, KRT17, MMP3, CDKN1B, PGF, MICA, TP53, DDIT3, BIRC5, FGL1, PIM1, MUC1, S1PR1, KLF11, FAS, STS, DNMT1, TGFB1, CDKN1A, VDR, TNFRSF10B, PAX3, LCAT, CTGF, BCL6, LGALS3BP, BCL2, HSPA4, IL21, SALL4, IL6, ROR1, MYC, AKAP12	2	PTEN, AKT1
NFKB1	NO	306	NRF1, VWF, FTH1, PGLYRP2, CDK4, RGS4, IFNG, MMP2, DCST1, AGT, THBD, EGFR, GDNF, CCL4, NCAM1, VEGFA, CR2, CFI, TP53, FOXO3, CYP19A1, BGN, LPL, CXCL12, ELF3, PTHLH, HOXA9, IRF7, TNC, AGER, EDN1, HBEGF, SFTPA1, SAA1, TSLP, GSK3A, IFNB1, GKN2, TRAF2, PLA2G2A, F3, IL10, LIPE, FAF1, IL17A, CEACAM1, AKT1, KLK3, IL1RN, GSTP1, E2F1, CCR5, TAPBP, ADORA2A, CXCL1, PTPN6, MMP3, PIGR, ERAP1, YY1, OLFM4, DEFB4A, CCL2, CD28, SQSTM1, TERT, IL4, NAMPT, BACE1, JUNB, SLC9A2, FASLG, ALOX5, BCL2L1, CD83, TLR3, CCL22, PLIN1, CDKN1A, BIRC3, CSF2, CFLAR, TFPI2, MYB, IL18, SERPINB1, MUC17, TNFRSF10A, PTGFR, TFF3, PTAFR, PTGS2, COX1, SERPINA3, ITGAX, CCND2, MCL1, TLR7, POU2F2, REPS2, CD3G, TFF1, B2M, PLAU, TNF, FOXP3, HDAC7, MUC5B, CCR2, FIGF, HSD11B2, CCL13, IFNA1, NOX5, MAT2A, COL7A1, HMOX1, ADORA1, TNFSF10, AR, COL2A1, TAP1, IL1B, CD74, CD38, MUC5AC, MUC2, TIMP1, CCL19, FGF8, PDK4, CCL20, STK39, CYP3A7, MMP9, GATA3, IRF4, CD58, HES1, PLAUR, SP4, NFKB1, MMP1, NOX4, BDKRB1, CASP3, CYP1A1, PSMB9, PTEN, HPSE, CCNB1, CD40, NOS3, PTGDS, UPP1, HIF1A, TNFRSF9, CD80, TNFSF13B, IL23A, TNFAIP3, TNFSF14, IL12A, TRPC1, CYP2E1, OPRM1, HLA-F, AMH, XIAP, MADCAM1, HYAL1, A2M, CCL11, TBX21, ICAM1, BCL2L11, CHUK, TAP2, IL2RA, CTCF, ABCB1, GSK3B, CCND1, KLF5, CCR7, CCK, DCST2, MMP14, IL17C, FBP1, OPTN, IL1A, LTC4S, COL1A2, NOS1, WT1, BIRC5, PPIG, PTGES, CREB3, CXCL2, CRP, KDM2A, BCL2A1, BRCA2, IKBKB, GFAP, PSMB10, PROX1, COL1A1, TNIP3, NFKBIZ, TLR2, S100A6, DRD2, CXCL8, CD86, TRAF1, PTPN13, CSNK2A1, CARD8, CXCL10, IL6, CFTR, CASP9, ABCG2, BMP2, CRMP1, IL2, IRF1, SOD2, IER3, NFKBIA, FN1, SERPINE1, MICA, TBP, CXCR2, BHMT, NCOR1, SNAI1, BAX, NPPB, CTSB, F8, IL12B, IGF2BP1, LCN2, NOLC1, CD40LG, SELE, NOD2, CCL5, FAS, ALOX5AP, OLR1, CXCR4, SDC1, FLT4, NCOR2, AKT2, CDH1, TGFB1, CCL3, IGF2BP2, HDAC1, SP1, PDE7A, ADORA3, CRHR1, BCL3, MIF, CXCL5, TNFRSF10B, HAX1, CYP27B1, NLRP2, FGF7, PTGER4, TNFRSF13C, CARM1, EBI3, VCAM1, ERAP2, MYC, CSF1, EPCAM, SLC25A27, NOS2, RIPK2, EGR1, BTG2, BCL2, ABCA1, CD69, BIRC2, CCR3, IL21, GCLC, MMP13, GRIN1, SP3, RRM2B, STAT4, TF, MUC6	2	PTEN, AKT1
RELA	NO	302	NRF1, OXTR, FTH1, CDK4, UPP1, IFNG, MMP2, DCST1, AGT, FLT4, EGFR, CCL4, NCAM1, VEGFA, CR2, CFI, TP53, FOXO3, CYP19A1, BGN, LPL, CXCL12, ELF3, PTHLH, IRF7, TNC, AGER, EDN1, SFTPA1, IGF2BP2, PPARA, SAA1, TSLP, GSK3A, IFNB1, GKN2, PLA2G2A, F3, IL10, KLK3, MMP12, IL17A, NR4A1, CEACAM1, AKT1, EPAS1, IL1RN, BAX, TRIB3, E2F1, PCK2, CXCL1, PTPN6, MMP3, CDK6, PIGR, ERAP1, YY1, OLFM4, IL18, LIPE, CD28, MMP9, TERT, IL4, NAMPT, BACE1, JUNB, CCR2, FASLG, ALOX5, BCL2L1, CCL11, PGR, GTF2B, CCL22, PLIN1, AKT2, BIRC3, HBEGF, CCL2, SERPINB1, MUC17, BAD, FGF7, PTGFR, TFF3, PTAFR, PTGS2, COX1, SERPINA3, ITGAX, CCND2, MCL1, TLR7, POU2F2, REPS2, TF, TFF1, SLC9A2, PLAU, TNF, FOXP3, HDAC7, MUC5B, NCOR1, FIGF, CYP3A4, SP1, CCL13, IFNA1, NOX5, MAT2A, COL7A1, HMOX1, ADORA1, TNFSF10, AR, CCR5, COL2A1, TAP1, IL1B, CD74, CD38, MUC5AC, GSTP1, MUC2, TIMP1, CCL19, CXCR4, FGF8, PDK4, CCL20, STK39, CYP3A7, GATA3, IRF4, CD58, HES1, PLAUR, SP4, NFKB1, MMP1, NOX4, BDKRB1, CASP3, CYP1A1, PTEN, HPSE, CCNB1, CD40, NOS3, ABCA1, PPARD, HIF1A, TNFRSF9, CD80, KDM2A, IL23A, TNFAIP3, TNFSF14, IL12A, TRPC1, CYP2E1, RGS4, ADORA2A, AMH, XIAP, MADCAM1, HYAL1, CFLAR, TBX21, ICAM1, BCL2L11, CHUK, TAP2, IL2RA, TLR3, ABCB1, IL17C, CCND1, KLF5, CCR7, CCK, DCST2, MMP14, FBP1, OPTN, IL1A, LTC4S, COL1A2, NOS1, WT1, BIRC5, PPIG, PTGES, THBD, CREB3, VWF, CXCL2, CRP, HLA-A, BCL2A1, BRCA2, IKBKB, GFAP, TWIST1, PSMB10, PROX1, COL1A1, TNIP3, NFKBIZ, TLR2, TNFRSF10A, S100A6, DRD2, CXCL8, BTG2, TRAF1, PTPN13, CD83, CSNK2A1, CARD8, CXCL10, CDKN1A, IL6, CFTR, CASP9, SIRT1, BMP2, IL2, IRF1, SOD2, IER3, NFKBIA, FN1, SERPINE1, MICA, TBP, CXCR2, BHMT, ABCG2, SNAI1, NOS2, PSMB9, CTSB, HSD11B2, F8, IL12B, IGF2BP1, LCN2, NOLC1, CD40LG, SELE, CCL5, FAS, ALOX5AP, OLR1, VCAM1, SDC1, SAA2, NCOR2, DEFB4A, CDH1, TRAF2, CCL3, GNRH2, HDAC1, TAPBP, CSF2, ADORA3, CRHR1, BCL3, MIF, CXCL5, TNFRSF10B, CYP27B1, NLRP2, FAF1, PTGER4, TNFRSF13C, CARM1, EBI3, ERAP2, CSF1, EPCAM, SLC25A27, RIPK2, EGR1, CD86, BCL2, CD69, BIRC2, CCR3, NPPB, GCLC, MMP13, GRIN1, SP3, MYC, STAT4, MUC6	2	PTEN, AKT1
AR	NO	83	UGT2B15, PTPN1, CDH11, AKR1C3, USP26, FOLH1, CCR2, CDK20, CDK6, PNRC1, ARG1, XIAP, VIM, ARG2, EGFR, CFLAR, ETV1, BSG, IGF1R, MUC1, WEE1, PTGS2, NKX3-1, AKT1, NRAS, CDH1, EP300, KLF5, ACTA1, CLK3, FN1, TNF, PRL, ERBB2, ERBB3, CRISP3, CTNNB1, PTEN, CRISP1, SERPINB5, TSC2, NAT1, CDKN1A, GREB1, SEPT7, IFI16, PIGR, KLK3, PC, STIM1, SRD5A3, TCF7L2, JUN, TMPRSS2, RELA, TJP1, BTG1, VEGFA, NFKB1, HMMR, FKBP5, KLK4, CRH, CDH2, BTG2, TGFA, SESN1, CDC6, TH, ALDH1A3, KISS1, KISS1R, PEBP1, KLK2, ATAD2, HMOX1, TSC1, WNT7B, PEG10, TRPS1, CCND1, PIP, FOXA1	2	PTEN, AKT1
TP53	NO	159	ATF3, AKT1, UHRF1BP1, TP53, CAV1, EGFR, ALKBH2, PAX5, PRG3, PDGFRB, VCAN, MAD1L1, CTNNB1, ID1, TCEAL1, ESR1, CABLES1, MKI67, BAX, SLC6A6, PERP, MAP4, RASSF1, PIAS3, CDK4, RELA, CYFIP2, SSTR2, PMAIP1, BRCA2, WRN, PTTG1, TBXAS1, BTG3, EZH2, SFN, ANKRD1, REEP5, MYC, BCL2L1, GDF15, MCM7, IGFBP3, BGLAP, GC, HSP90AB1, FGF2, CCNB2, PRKAB1, CARM1, EGR1, THBS1, RB1, DDB1, CCNA2, IFI16, BAI1, OGG1, MCL1, GPNMB, MUC2, TRIM22, GSTP1, RAD51B, AQP3, TYMS, TNFRSF10A, GML, TERT, FDXR, GADD45A, S100B, CDKN1B, CCNB1, CHEK2, BCL3, NME1, PRC1, SIAH1, SLC2A1, MMP1, E2F7, CHUK, POLD1, NKX3-1, RECQL4, ABCB1, CCND1, E2F3, TP53I3, SMAD3, DDB2, BRCA1, HIPK2, BIRC5, DKK1, HRAS, NLRC4, PTEN, VEGFA, FOXO3, ANTXR1, MGMT, FOXM1, UHRF1, CDK2, HR, CHEK1, TCF7L2, ALOX5, APAF1, MDM4, AFP, IGF1R, HNF4A, IER3, CDK1, CASP1, BDKRB2, MDM2, MET, CRYAB, XPO1, MMP2, PTPN13, IPO7, CASP3, ELF4, HSF1, FLT1, FAS, PML, GLI2, EPHA2, DNMT1, CD82, E2F1, CDKN1A, SIVA1, BBC3, PLAGL1, TNFRSF10B, CTSD, ID2, CKM, XPC, NFKB1, TP73, DUSP1, STAT3, BCL2, BTG2, PLK3, CCNA1, PPP2R4, KLF2, APCS, RRM2B, ING1	2	PTEN, AKT1

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regulated gene	associated to this disease	# TFs	TFs
AKT1	YES	7	APC, STAT3, GLI1, AR, TP53, RELA, NFKB1
PIK3CA	YES	1	FOXO3
PTEN	YES	15	SP1, STAT3, EGR1, TCF4, NFKB1, MTA1, AR, TP53, HES1, TFAP2A, RELA, RBPJ, MXD1, PPARG, SRF
SDHB	YES	4	NRF1, NFE2L2, PLAGL1, HIF1A

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Interactions from BIOGRID - physical

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Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
AKT1	PIK3CA	Yes	12	IL13RA2, IL24, AKT1, NOTCH1, IRS1, DDX5, ERBB3, SMAD2, ESR1, SMAD3, THRSP, APPL1
AKT1	PTEN	Yes	26	KAT2B, AR, USP8, XIAP, PPP1CA, HSP90AB1, AKT1, STUB1, USP4, PPL, CTNNB1, PINK1, CALM1, HSP90AA1, SLC9A3R1, PKN2, PPP3CA, IL24, HSPA8, CSNK2A1, OSGIN1, FASN, TUBB, PPP2R4, ESR1, NEDD4
SEC23B	AKT1	No	1	NF2
SEC23B	PIK3CA	No	1	NTRK1
SEC23B	PTEN	No	1	PXN
SEC23B	SDHB	No	3	TMED2, CUL3, CAND1
AKT1	SDHB	No	2	IQGAP1, LDHA
PIK3CA	PTEN	No	7	IL24, AKT1, CBL, IRS4, RPS20, ESR1, BEX1
PIK3CA	SDHB	No	1	GSN
PTEN	SDHB	No	1	SLC25A3

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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
AKT1	PIK3CA	Yes	activation, binding	108	ITGB3, PTEN, PLCG1, TP53, CDC42, SOS1, RAP1A, PDGFB, ACTN4, PDGFRB, ACTA1, CTNNB1, GNGT1, BECN1, BDNF, PIK3CB, RELA, CBLB, RELN, IL2, RRAS2, MTOR, INS, JAK1, PIK3R5, GNB1, ESR1, VAV2, FLT3, BCL2L1, AKT2, ITGA2B, RPTOR, PGF, ANGPT2, ITGA6, RHOA, PREX1, PIK3R1, BCR, RPS6KB2, APPL1, IGF1, PTPN1, CDH1, PIK3R3, PDPK1, ITGB4, GRB2, GAB1, PIK3CD, ZYX, PELP1, VLDLR, AR, CSK, TPTE2, RAP1B, DAB1, INSR, GSK3B, CCND1, CREB1, SMAD3, RAF1, ERBB3, TPTE, LCK, HRAS, NOTCH1, GAB2, DOK1, CDH2, VEGFA, RAC1, RICTOR, PRKCZ, GNAI3, CASP9, IL2RB, EFNA1, RAC3, PTPN11, MAP3K5, PIK3CG, GNAI1, DAB2IP, ANGPT1, RRAS, SHC1, YWHAZ, CSF2, TSC1, S1PR1, SLC9A3R1, SMAD2, SRC, NFKB1, MYC, STAT3, KRAS, IL3, ARF6, RPS6KB1, IRS1, VAV1, IRS2, LAT
AKT1	PTEN	Yes	activation, binding	74	KAT2B, AR, RPS6KB1, PIK3CG, FOXM1, TP53, XIAP, SNAI1, AKT2, SMAD4, NEDD4, PIK3R3, MMP2, EZH2, CREB1, PEA15, RETN, RPTOR, HDAC9, FOS, PDGFB, BCR, GRB2, IL18, PHLPP2, PHLPP1, PDGFRB, PLXNB1, THBS1, PIK3CA, MME, BMI1, PPP3CA, SMAD3, CHUK, MTOR, SOS1, TGFB1, FOXO3, BIRC5, ESR1, CDKN1A, BMP2, TSC2, NOTCH1, CDH1, EGR1, ATF2, SLC9A3R1, JUN, RAC3, TIMP1, SRC, VEGFA, SHC1, PIK3CB, MAP2K4, BAX, INSR, BCL2, CCND1, IKBKB, CAV1, IGF2, INS, LEP, PIK3R1, CDKN1B, MAPK14, UBC, PIK3CD, PIK3R5, PARK7, HIF1A
PIK3CA	PTEN	Yes	activation, binding	48	EPHB4, AKT1, PIK3CG, AR, VCL, SRC, AKT3, INSR, INSRR, CREB1, EGFR, PDGFB, EPHB1, VEGFA, DLG1, SP1, PDGFRB, PIK3R5, PTK2, IRS4, SMAD3, BCR, SOS1, SHC1, AKT2, NGFR, CDH1, RPS6KB1, PIK3CB, TP53, PIK3R3, PXN, PDGFRA, GRB2, NOTCH1, ITGB1, CBL, RPTOR, MTOR, INS, PIK3R1, BCAR1, ESR1, PIK3CD, CCND1, IGF1R, RAC3, SLC9A3R1
SDHB	SDHD	Yes	binding	2	SDHC, SDHA
SEC23B	AKT1	No	-	2	UBC, SEC24B
SEC23B	PTEN	No	-	1	UBC
SEC23B	SDHB	No	-	1	UBC
AKT1	SDHB	No	-	2	UBC, HSPA5
AKT1	SDHD	No	-	1	IL2
PIK3CA	SDHD	No	-	1	IL2

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

Interactions from CORUM

Interactions from CENSUS

Interactions from PDB

Interactions from manually curated literature

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Gene1	Gene2	Direct interaction	More information
SDHB	SDHD	yes, complex	Components of complex II composed of four subunits: the flavoprotein (FP) SDHA, iron-sulfur protein (IP) SDHB, and a cytochrome b560 composed of SDHC and SDHD. [UniProt]

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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
Citrate cycle (TCA cycle)	hsa00020	7.86	2	SDHD, SDHB
Carbohydrate digestion and absorption	hsa04973	7.28	2	PIK3CA, AKT1
Non-small cell lung cancer	hsa05223	6.88	2	AKT1, PIK3CA
Endometrial cancer	hsa05213	6.81	3	AKT1, PIK3CA, PTEN
VEGF signaling pathway	hsa04370	6.77	2	PIK3CA, AKT1
Acute myeloid leukemia	hsa05221	6.74	2	PIK3CA, AKT1
mTOR signaling pathway	hsa04150	6.72	3	AKT1, PIK3CA, PTEN
Inositol phosphate metabolism	hsa00562	6.72	2	PIK3CA, PTEN
Central carbon metabolism in cancer	hsa05230	6.7	3	AKT1, PIK3CA, PTEN
Glioma	hsa05214	6.66	3	AKT1, PTEN, PIK3CA

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
Citrate cycle (TCA cycle) (hsa00020)	-	7.86	0.045	SDHD, SDHB
Endometrial cancer (hsa05213)	-	6.81	0.001	AKT1, PIK3CA, PTEN
Inositol phosphate metabolism (hsa00562)	-	6.72	0.006	AKT1, PIK3CA, PTEN
mTOR signaling pathway (hsa04150)	-	6.72	0.006	AKT1, PIK3CA, PTEN
Central carbon metabolism in cancer (hsa05230)	-	6.7	0.005	AKT1, PIK3CA, PTEN
Glioma (hsa05214)	-	6.66	0.006	AKT1, PIK3CA, PTEN
Melanoma (hsa05218)	-	6.56	0.011	AKT1, PTEN, PIK3CA
Chronic myeloid leukemia (hsa05220)	-	6.48	0.01	AKT1, PIK3CA, PTEN
Phosphatidylinositol signaling system (hsa04070)	-	6.38	0.019	AKT1, PTEN, PIK3CA
Small cell lung cancer (hsa05222)	-	6.17	0.006	AKT1, PIK3CA, PTEN

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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
Negative regulation of the PI3K/AKT network	R-HSA-199418	9.98	2	AKT1, PTEN
Citric acid cycle (TCA cycle)	R-HSA-71403	8.73	2	SDHD, SDHB
CD28 dependent PI3K/Akt signaling	R-HSA-389357	8.59	2	AKT1, PIK3CA
CD28 co-stimulation	R-HSA-389356	7.98	2	PIK3CA, AKT1
Synthesis of PIPs at the plasma membrane	R-HSA-1660499	7.94	2	PTEN, PIK3CA
Pyruvate metabolism and Citric Acid (TCA) cycle	R-HSA-71406	7.56	2	SDHD, SDHB
G beta:gamma signalling through PI3Kgamma	R-HSA-392451	7.4	2	AKT1, PIK3CA
PI Metabolism	R-HSA-1483255	7.31	2	PIK3CA, PTEN
G-protein beta:gamma signalling	R-HSA-397795	7.31	2	AKT1, PIK3CA
GPVI-mediated activation cascade	R-HSA-114604	7.18	2	AKT1, PIK3CA

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
Negative regulation of the PI3K/AKT network (R-HSA-199418)	-	9.98	0.001	AKT1, PTEN
Citric acid cycle (TCA cycle) (R-HSA-71403)	-	8.73	0.021	SDHD, SDHB
CD28 dependent PI3K/Akt signaling (R-HSA-389357)	-	8.59	0.0	AKT1, PTEN, PIK3CA
CTLA4 inhibitory signaling (R-HSA-389513)	NEW	8.52	0.049	PTEN, AKT1
CD28 co-stimulation (R-HSA-389356)	-	7.98	0.0	AKT1, PTEN, PIK3CA
Synthesis of PIPs at the plasma membrane (R-HSA-1660499)	-	7.94	0.022	AKT1, PIK3CA, PTEN
Pyruvate metabolism and Citric Acid (TCA) cycle (R-HSA-71406)	-	7.56	0.038	SDHD, SDHB
G beta:gamma signalling through PI3Kgamma (R-HSA-392451)	-	7.4	0.047	AKT1, PIK3CA
PI Metabolism (R-HSA-1483255)	-	7.31	0.003	AKT1, PIK3CA, PTEN
Constitutive Signaling by Aberrant PI3K in Cancer (R-HSA-2219530)	NEW	7.05	0.006	AKT1, PIK3CA, PTEN

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

Shared terms

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GO	IC	Number of genes with the same GO	Genes
ubiquinone binding (GO:0048039)	8.35	2	SDHD, SDHB
succinate dehydrogenase activity (GO:0000104)	8.13	2	SDHD, SDHB
quinone binding (GO:0048038)	6.91	2	SDHD, SDHB
oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)	5.66	2	SDHD, SDHB
electron carrier activity (GO:0009055)	4.97	2	SDHD, SDHB
cofactor binding (GO:0048037)	4.16	2	SDHD, SDHB
protein serine/threonine kinase activity (GO:0004674)	3.64	2	AKT1, PIK3CA
protein kinase binding (GO:0019901)	3.44	2	AKT1, PTEN
kinase binding (GO:0019900)	3.32	2	PTEN, AKT1
protein kinase activity (GO:0004672)	3.27	2	AKT1, PIK3CA

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
ubiquinone binding (GO:0048039)	-	8.35	0.0	SDHD, SDHB
succinate dehydrogenase activity (GO:0000104)	-	8.13	0.0	SDHD, SDHB
lipid kinase activity (GO:0001727)	NEW	7.95	0.003	AKT1, PIK3CA
phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)	NEW	7.79	0.005	AKT1, PTEN
inositol tetrakisphosphate phosphatase activity (GO:0052743)	NEW	7.34	0.002	AKT1, PTEN
cytoskeletal adaptor activity (GO:0008093)	NEW	6.97	0.049	AKT1, PTEN
phosphatidylinositol phosphate kinase activity (GO:0016307)	NEW	6.97	0.016	AKT1, PIK3CA
quinone binding (GO:0048038)	-	6.91	0.002	SDHD, SDHB
inositol phosphate phosphatase activity (GO:0052745)	NEW	6.74	0.018	AKT1, PTEN
lipoprotein particle receptor binding (GO:0070325)	NEW	6.65	0.035	AKT1, PIK3CA

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

Shared terms

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GO	IC	Number of genes with the same GO	Genes
negative regulation of cell size (GO:0045792)	7.53	2	PTEN, AKT1
regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031657)	7.53	2	PTEN, AKT1
myelin maintenance (GO:0043217)	7.24	2	AKT1, PTEN
tricarboxylic acid cycle (GO:0006099)	6.33	2	SDHD, SDHB
regulation of myelination (GO:0031641)	6.23	2	AKT1, PTEN
protein kinase B signaling (GO:0043491)	6.2	3	PTEN, AKT1, PIK3CA
ERBB2 signaling pathway (GO:0038128)	6.09	2	AKT1, PIK3CA
endothelial cell migration (GO:0043542)	5.69	2	PIK3CA, PTEN
regulation of cell size (GO:0008361)	5.42	2	AKT1, PTEN
epithelial cell migration (GO:0010631)	5.42	2	PTEN, PIK3CA

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
negative regulation of fibroblast apoptotic process (GO:2000270)	NEW	7.78	0.031	AKT1, PIK3CA
regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031657)	-	7.53	0.036	AKT1, PTEN
negative regulation of cell size (GO:0045792)	-	7.53	0.005	AKT1, PTEN
negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)	NEW	7.43	0.0	AKT1, PIK3CA, PTEN
myelin maintenance (GO:0043217)	-	7.24	0.041	AKT1, PTEN
cellular response to fibroblast growth factor stimulus (GO:0044344)	NEW	6.4	0.028	AKT1, PIK3CA, PTEN
tricarboxylic acid cycle (GO:0006099)	-	6.33	0.043	SDHD, SDHB
protein kinase B signaling (GO:0043491)	-	6.2	0.007	AKT1, PIK3CA, PTEN
response to fibroblast growth factor (GO:0071774)	NEW	6.17	0.03	AKT1, PIK3CA, PTEN
negative regulation of cytokine-mediated signaling pathway (GO:0001960)	NEW	6.07	0.011	AKT1, PTEN, PIK3CA

Showing 1 to 10 of 20 entries

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

Shared terms

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GO	IC	Number of genes with the same GO	Genes
succinate dehydrogenase complex (ubiquinone) (GO:0045257)	8.42	2	SDHD, SDHB
mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) (GO:0005749)	8.42	2	SDHD, SDHB
fumarate reductase complex (GO:0045283)	8.42	2	SDHD, SDHB
succinate dehydrogenase complex (GO:0045281)	8.42	2	SDHD, SDHB
respiratory chain complex (GO:0098803)	5.47	2	SDHD, SDHB
oxidoreductase complex (GO:1990204)	5.19	2	SDHD, SDHB
inner mitochondrial membrane protein complex (GO:0098800)	5.01	2	SDHD, SDHB
postsynapse (GO:0098794)	4.87	2	AKT1, PTEN
mitochondrial protein complex (GO:0098798)	4.78	2	SDHD, SDHB
mitochondrial membrane part (GO:0044455)	4.54	2	SDHD, SDHB

Showing 1 to 10 of 43 entries

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
succinate dehydrogenase complex (ubiquinone) (GO:0045257)	-	8.42	0.0	SDHD, SDHB
fumarate reductase complex (GO:0045283)	-	8.42	0.0	SDHD, SDHB
succinate dehydrogenase complex (GO:0045281)	-	8.42	0.0	SDHD, SDHB
mitochondrial respiratory chain complex II (GO:0005749)	-	8.42	0.0	SDHD, SDHB
endosome lumen (GO:0031904)	NEW	6.54	0.007	AKT1, PIK3CA
oxidoreductase complex (GO:1990204)	-	5.19	0.043	SDHD, SDHB, AKT1
endomembrane system (GO:0012505)	NEW	4.84	0.003	SEC23B, PTEN, AKT1
mitochondrial membrane part (GO:0044455)	-	4.54	0.013	SDHD, SDHB, AKT1
cytosolic part (GO:0044445)	NEW	4.34	0.032	AKT1, PIK3CA, PTEN
Golgi membrane (GO:0000139)	NEW	3.28	0.005	AKT1, SDHD, SEC23B, PIK3CA, PTEN

Showing 1 to 10 of 12 entries

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