Disease table of HEMOCHROMATOSIS OMIM ID: PS235200

Gene-disease associations table

Gene	Associated with HEMOCHROMATOSIS in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
TFR2	ClinVar, OMIM, HUMSAVAR	HGNC link	7q22.1	1	PS235200
BMP2	OMIM	HGNC link	20p12.3	2	PS235200, 112600
HAMP	ClinVar, OMIM, HUMSAVAR	HGNC link	19q13.12	1	PS235200
HFE2	ClinVar, OMIM, HUMSAVAR	HGNC link	1q21.1	1	PS235200
FTH1	ClinVar, OMIM	HGNC link	11q12.3	1	PS235200
HFE	ClinVar, OMIM, HUMSAVAR	HGNC link	6p22.2	6	PS235200, PS603933, 614193, 104300, 176200, 176100
SLC40A1	ClinVar, OMIM, HUMSAVAR	HGNC link	2q32.2	1	PS235200

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD

Cytogenetic band analysis

Transcription Factors (TF) annotation from TRRUST

TF	associated to this disease	# regulated genes	Regulated genes	# regulated genes associated with this disease	Regulated genes associated with this disease
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	BMP2, FTH1
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	BMP2, FTH1

regulated gene	associated to this disease	# TFs	TFs
BMP2	YES	4	DNMT1, HEY1, NFKB1, RELA
HAMP	YES	3	STAT3, GATA4, CEBPA
FTH1	YES	3	NFKB1, ATF1, RELA

Interactions from BIOGRID - physical

Interactions from BIOGRID - genetic

Interactions from STRING

Gene1	Gene2	Direct Interaction	Interaction mode	Number of shared interactors	Shared genes in interaction
TFR2	HAMP	No	-	1	HFE
TFR2	FTH1	No	-	1	UBC
TFR2	HFE	Yes	binding	0
TFR2	SLC40A1	No	-	1	UBC
BMP2	HAMP	No	-	1	IL6
BMP2	FTH1	No	-	1	MYC
BMP2	SLC40A1	No	-	1	TLR4
HAMP	HFE	Yes	activation	0
FTH1	HFE	No	-	1	TFRC
FTH1	SLC40A1	No	-	2	UBC, TFRC
HFE	SLC40A1	No	-	1	TFRC

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

Interactions from CORUM

Interactions from CENSUS

Interactions from PDB

Gene1	Gene2	Interaction	Number of common interactors	Common genes in interaction
BMP2	HFE2	Yes	2	HFE2, BMP2

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

Interactions from manually curated literature

KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG term	KEGG term ID	IC	Number of genes with the same term	Genes
Mineral absorption	hsa04978	7.09	2	SLC40A1, FTH1

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
Mineral absorption (hsa04978)	-	7.09	0.003	SLC40A1, HAMP, FTH1

REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME term	REACTOME term ID	IC	Number of genes with the same term	Genes
Iron uptake and transport	R-HSA-917937	7.56	2	SLC40A1, FTH1
Transmembrane transport of small molecules	R-HSA-382551	3.79	2	SLC40A1, FTH1

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
Iron uptake and transport (R-HSA-917937)	-	7.56	0.0	SLC40A1, HAMP, FTH1

GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GO	IC	Number of genes with the same GO	Genes
binding (GO:0005488)	0.18	7	HFE, FTH1, HAMP, TFR2, HFE2, BMP2, SLC40A1
protein binding (GO:0005515)	0.46	7	BMP2, FTH1, HAMP, TFR2, HFE2, HFE, SLC40A1
receptor binding (GO:0005102)	2.43	4	HFE2, HAMP, BMP2, HFE
molecular transducer activity (GO:0060089)	2.32	3	SLC40A1, HFE2, TFR2
co-receptor binding (GO:0039706)	7.54	3	BMP2, HFE, TFR2
receptor activity (GO:0004872)	2.32	3	SLC40A1, HFE2, TFR2
catalytic activity (GO:0003824)	1.05	3	HFE2, BMP2, FTH1
glycoprotein binding (GO:0001948)	5.11	2	HFE2, TFR2
peptide binding (GO:0042277)	4.22	2	SLC40A1, HFE
carbohydrate derivative binding (GO:0097367)	2.03	2	HFE2, TFR2
amide binding (GO:0033218)	4.14	2	SLC40A1, HFE
transferrin receptor binding (GO:1990459)	7.66	2	HFE2, HFE
molecular function regulator (GO:0098772)	2.51	2	HAMP, BMP2
oxidoreductase activity (GO:0016491)	3.12	2	BMP2, FTH1

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

Shared terms

GO	IC	Number of genes with the same GO	Genes
cellular process (GO:0009987)	0.26	7	BMP2, FTH1, HAMP, TFR2, HFE2, HFE, SLC40A1
regulation of cellular process (GO:0050794)	0.5	7	BMP2, FTH1, HAMP, TFR2, HFE2, HFE, SLC40A1
biological regulation (GO:0065007)	0.39	7	HFE, FTH1, HAMP, TFR2, HFE2, BMP2, SLC40A1
single-organism cellular process (GO:0044763)	0.65	7	BMP2, FTH1, HAMP, TFR2, HFE2, HFE, SLC40A1
regulation of biological quality (GO:0065008)	1.68	7	BMP2, FTH1, HAMP, TFR2, HFE2, HFE, SLC40A1
regulation of biological process (GO:0050789)	0.45	7	BMP2, FTH1, HAMP, TFR2, HFE2, HFE, SLC40A1
single-organism process (GO:0044699)	0.48	7	HFE, FTH1, HAMP, TFR2, HFE2, BMP2, SLC40A1
positive regulation of metabolic process (GO:0009893)	1.74	6	HFE, HAMP, TFR2, HFE2, BMP2, SLC40A1
regulation of metabolic process (GO:0019222)	1.02	6	HFE, HAMP, TFR2, HFE2, BMP2, SLC40A1
regulation of cellular biosynthetic process (GO:0031326)	1.38	6	HFE, HAMP, TFR2, HFE2, BMP2, SLC40A1
ion homeostasis (GO:0050801)	3.42	6	FTH1, HAMP, TFR2, HFE2, HFE, SLC40A1
regulation of RNA biosynthetic process (GO:2001141)	1.55	6	HFE, HAMP, TFR2, HFE2, BMP2, SLC40A1
regulation of cellular metabolic process (GO:0031323)	1.07	6	HFE, HAMP, TFR2, HFE2, BMP2, SLC40A1
homeostatic process (GO:0042592)	2.61	6	FTH1, HAMP, TFR2, HFE2, HFE, SLC40A1
iron ion homeostasis (GO:0055072)	5.49	6	FTH1, HAMP, TFR2, HFE2, HFE, SLC40A1
transition metal ion homeostasis (GO:0055076)	5.09	6	FTH1, HAMP, TFR2, HFE2, HFE, SLC40A1
inorganic ion homeostasis (GO:0098771)	3.43	6	FTH1, HAMP, TFR2, HFE2, HFE, SLC40A1
regulation of primary metabolic process (GO:0080090)	1.08	6	HFE, HAMP, TFR2, HFE2, BMP2, SLC40A1
cellular transition metal ion homeostasis (GO:0046916)	5.42	6	FTH1, HAMP, TFR2, HFE2, HFE, SLC40A1
positive regulation of macromolecule metabolic process (GO:0010604)	1.81	6	HFE, HAMP, TFR2, HFE2, BMP2, SLC40A1
regulation of gene expression (GO:0010468)	1.37	6	HFE, HAMP, TFR2, HFE2, BMP2, SLC40A1
regulation of nitrogen compound metabolic process (GO:0051171)	1.36	6	HFE, HAMP, TFR2, HFE2, BMP2, SLC40A1
regulation of cellular macromolecule biosynthetic process (GO:2000112)	1.46	6	HFE, HAMP, TFR2, HFE2, BMP2, SLC40A1
regulation of nucleobase-containing compound metabolic process (GO:0019219)	1.43	6	HFE, HAMP, TFR2, HFE2, BMP2, SLC40A1
regulation of transcription from RNA polymerase II promoter (GO:0006357)	2.24	6	HFE, HAMP, TFR2, HFE2, BMP2, SLC40A1
positive regulation of biological process (GO:0048518)	1.2	6	HFE, HAMP, TFR2, HFE2, BMP2, SLC40A1
negative regulation of biological process (GO:0048519)	1.33	6	HFE, FTH1, HAMP, HFE2, BMP2, SLC40A1
positive regulation of cellular metabolic process (GO:0031325)	1.81	6	HFE, HAMP, TFR2, HFE2, BMP2, SLC40A1
cellular homeostasis (GO:0019725)	3.23	6	FTH1, HAMP, TFR2, HFE2, HFE, SLC40A1
cellular iron ion homeostasis (GO:0006879)	5.9	6	FTH1, HAMP, TFR2, HFE2, HFE, SLC40A1
cellular metal ion homeostasis (GO:0006875)	3.75	6	FTH1, HAMP, TFR2, HFE2, HFE, SLC40A1
regulation of biosynthetic process (GO:0009889)	1.37	6	HFE, HAMP, TFR2, HFE2, BMP2, SLC40A1
cellular ion homeostasis (GO:0006873)	3.57	6	FTH1, HAMP, TFR2, HFE2, HFE, SLC40A1
regulation of nucleic acid-templated transcription (GO:1903506)	1.55	6	HFE, HAMP, TFR2, HFE2, BMP2, SLC40A1
cellular cation homeostasis (GO:0030003)	3.6	6	FTH1, HAMP, TFR2, HFE2, HFE, SLC40A1
metal ion homeostasis (GO:0055065)	3.61	6	FTH1, HAMP, TFR2, HFE2, HFE, SLC40A1
cation homeostasis (GO:0055080)	3.46	6	FTH1, HAMP, TFR2, HFE2, HFE, SLC40A1
cellular chemical homeostasis (GO:0055082)	3.4	6	FTH1, HAMP, TFR2, HFE2, HFE, SLC40A1
regulation of macromolecule metabolic process (GO:0060255)	1.08	6	HFE, HAMP, TFR2, HFE2, BMP2, SLC40A1
response to stimulus (GO:0050896)	1.22	6	HFE, FTH1, HAMP, TFR2, HFE2, BMP2
regulation of RNA metabolic process (GO:0051252)	1.52	6	HFE, HAMP, TFR2, HFE2, BMP2, SLC40A1
chemical homeostasis (GO:0048878)	2.97	6	FTH1, HAMP, TFR2, HFE2, HFE, SLC40A1
regulation of transcription, DNA-templated (GO:0006355)	1.56	6	HFE, HAMP, TFR2, HFE2, BMP2, SLC40A1
regulation of macromolecule biosynthetic process (GO:0010556)	1.43	6	HFE, HAMP, TFR2, HFE2, BMP2, SLC40A1
negative regulation of cellular process (GO:0048523)	1.41	6	HFE, FTH1, HAMP, HFE2, BMP2, SLC40A1
positive regulation of cellular process (GO:0048522)	1.3	6	HFE, HAMP, TFR2, HFE2, BMP2, SLC40A1
response to chemical (GO:0042221)	1.98	5	BMP2, HFE2, HAMP, HFE, TFR2
positive regulation of gene expression (GO:0010628)	2.35	5	SLC40A1, BMP2, HFE2, HFE, TFR2
positive regulation of nucleic acid-templated transcription (GO:1903508)	2.56	4	SLC40A1, HFE2, BMP2, TFR2
negative regulation of metabolic process (GO:0009892)	1.93	4	HFE2, HAMP, BMP2, HFE
positive regulation of biosynthetic process (GO:0009891)	2.29	4	SLC40A1, HFE2, BMP2, TFR2
negative regulation of cellular metabolic process (GO:0031324)	2.01	4	HFE2, HAMP, BMP2, HFE
regulation of cellular component organization (GO:0051128)	2.01	4	BMP2, HAMP, HFE, TFR2
iron ion transport (GO:0006826)	5.7	4	SLC40A1, FTH1, TFR2, HFE
cellular response to chemical stimulus (GO:0070887)	2.57	4	BMP2, HFE2, HFE, TFR2
regulation of signaling (GO:0023051)	1.72	4	BMP2, HFE2, HFE, TFR2
regulation of cell communication (GO:0010646)	1.73	4	BMP2, HFE2, HFE, TFR2
positive regulation of RNA biosynthetic process (GO:1902680)	2.54	4	SLC40A1, HFE2, BMP2, TFR2
cellular response to stimulus (GO:0051716)	1.97	4	BMP2, HFE2, HFE, TFR2
establishment of localization (GO:0051234)	1.48	4	SLC40A1, FTH1, TFR2, HFE
negative regulation of macromolecule metabolic process (GO:0010605)	2.01	4	HFE2, HAMP, BMP2, HFE
transition metal ion transport (GO:0000041)	5.05	4	SLC40A1, FTH1, TFR2, HFE
regulation of protein metabolic process (GO:0051246)	1.93	4	BMP2, HAMP, HFE, TFR2
positive regulation of protein metabolic process (GO:0051247)	2.43	4	BMP2, HAMP, HFE, TFR2
positive regulation of cellular component organization (GO:0051130)	2.68	4	BMP2, HAMP, HFE, TFR2
multicellular organismal process (GO:0032501)	1.45	4	SLC40A1, HAMP, BMP2, HFE
positive regulation of nucleobase-containing compound metabolic process (GO:0045935)	2.35	4	SLC40A1, HFE2, BMP2, TFR2
cation transport (GO:0006812)	3.11	4	SLC40A1, FTH1, TFR2, HFE
ion transport (GO:0006811)	2.66	4	SLC40A1, FTH1, TFR2, HFE
transport (GO:0006810)	1.51	4	SLC40A1, FTH1, TFR2, HFE
metal ion transport (GO:0030001)	3.36	4	SLC40A1, FTH1, TFR2, HFE
positive regulation of transcription, DNA-templated (GO:0045893)	2.56	4	SLC40A1, HFE2, BMP2, TFR2
metabolic process (GO:0008152)	0.58	4	BMP2, HFE2, HFE, FTH1
positive regulation of nitrogen compound metabolic process (GO:0051173)	2.29	4	SLC40A1, HFE2, BMP2, TFR2
regulation of localization (GO:0032879)	1.94	4	BMP2, HAMP, HFE, TFR2
localization (GO:0051179)	1.4	4	SLC40A1, FTH1, TFR2, HFE
positive regulation of cellular biosynthetic process (GO:0031328)	2.3	4	SLC40A1, HFE2, BMP2, TFR2
single-multicellular organism process (GO:0044707)	1.78	4	SLC40A1, HAMP, BMP2, HFE
positive regulation of RNA metabolic process (GO:0051254)	2.51	4	SLC40A1, HFE2, BMP2, TFR2
immune system process (GO:0002376)	2.29	4	SLC40A1, HAMP, HFE, FTH1
positive regulation of macromolecule biosynthetic process (GO:0010557)	2.39	4	SLC40A1, HFE2, BMP2, TFR2
positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	2.81	4	SLC40A1, HFE2, BMP2, TFR2
positive regulation of protein modification process (GO:0031401)	2.7	3	HAMP, BMP2, HFE
regulation of multicellular organismal process (GO:0051239)	1.87	3	HAMP, BMP2, HFE
negative regulation of biosynthetic process (GO:0009890)	2.47	3	HFE2, HAMP, BMP2
negative regulation of cellular biosynthetic process (GO:0031327)	2.49	3	HFE2, HAMP, BMP2
regulation of transport (GO:0051049)	2.24	3	HAMP, HFE, TFR2
response to transition metal nanoparticle (GO:1990267)	4.7	3	HAMP, HFE, TFR2
response to iron ion (GO:0010039)	6.2	3	HAMP, HFE, TFR2
regulation of response to stimulus (GO:0048583)	1.54	3	HFE2, BMP2, HFE
positive regulation of signaling (GO:0023056)	2.41	3	BMP2, HFE, TFR2
BMP signaling pathway (GO:0030509)	5.33	3	HFE2, BMP2, HFE
negative regulation of gene expression (GO:0010629)	2.48	3	HFE2, HAMP, BMP2
signal transduction (GO:0007165)	1.28	3	HFE2, BMP2, HFE
cell surface receptor signaling pathway (GO:0007166)	2.09	3	HFE2, BMP2, HFE
enzyme linked receptor protein signaling pathway (GO:0007167)	3.24	3	HFE2, BMP2, HFE
positive regulation of cell communication (GO:0010647)	2.41	3	BMP2, HFE, TFR2
negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	3.12	3	HFE2, HAMP, BMP2
regulation of signal transduction (GO:0009966)	1.84	3	HFE2, BMP2, HFE
negative regulation of multicellular organismal process (GO:0051241)	2.84	3	HAMP, BMP2, HFE
negative regulation of cellular macromolecule biosynthetic process (GO:2000113)	2.6	3	HFE2, HAMP, BMP2
animal organ development (GO:0048513)	2.53	3	SLC40A1, BMP2, HFE
positive regulation of cellular protein metabolic process (GO:0032270)	2.49	3	HAMP, BMP2, HFE
regulation of protein modification process (GO:0031399)	2.32	3	HAMP, BMP2, HFE
negative regulation of nucleic acid-templated transcription (GO:1903507)	2.71	3	HFE2, HAMP, BMP2
regulation of molecular function (GO:0065009)	1.78	3	HAMP, BMP2, HFE
negative regulation of response to stimulus (GO:0048585)	2.52	3	HFE2, BMP2, HFE
developmental process (GO:0032502)	1.36	3	SLC40A1, BMP2, HFE
regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090092)	4.39	3	HFE2, BMP2, HFE
negative regulation of nucleobase-containing compound metabolic process (GO:0045934)	2.55	3	HFE2, HAMP, BMP2
positive regulation of transport (GO:0051050)	2.9	3	HAMP, HFE, TFR2
negative regulation of nitrogen compound metabolic process (GO:0051172)	2.47	3	HFE2, HAMP, BMP2
defense response (GO:0006952)	2.78	3	HAMP, BMP2, HFE
regulation of hormone levels (GO:0010817)	3.56	3	BMP2, HFE, TFR2
negative regulation of RNA biosynthetic process (GO:1902679)	2.7	3	HFE2, HAMP, BMP2
response to stress (GO:0006950)	1.8	3	HAMP, BMP2, HFE
multicellular organismal iron ion homeostasis (GO:0060586)	7.53	3	SLC40A1, HAMP, HFE
negative regulation of transcription, DNA-templated (GO:0045892)	2.75	3	HFE2, HAMP, BMP2
response to metal ion (GO:0010038)	3.91	3	HAMP, HFE, TFR2
immune response (GO:0006955)	2.86	3	HAMP, HFE, FTH1
response to inorganic substance (GO:0010035)	3.56	3	HAMP, HFE, TFR2
regulation of endocytosis (GO:0030100)	4.42	3	HAMP, HFE, TFR2
transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	4.6	3	HFE2, BMP2, HFE
single-organism developmental process (GO:0044767)	1.49	3	SLC40A1, BMP2, HFE
regulation of cellular protein metabolic process (GO:0032268)	1.99	3	HAMP, BMP2, HFE
multicellular organismal homeostasis (GO:0048871)	5.07	3	SLC40A1, HAMP, HFE
negative regulation of RNA metabolic process (GO:0051253)	2.66	3	HFE2, HAMP, BMP2
anatomical structure development (GO:0048856)	1.58	3	SLC40A1, BMP2, HFE
regulation of vesicle-mediated transport (GO:0060627)	3.63	3	HAMP, HFE, TFR2
positive regulation of endocytosis (GO:0045807)	4.98	3	HAMP, HFE, TFR2
negative regulation of macromolecule biosynthetic process (GO:0010558)	2.53	3	HFE2, HAMP, BMP2
regulation of peptide transport (GO:0090087)	4.37	2	HFE, TFR2
cellular response to growth factor stimulus (GO:0071363)	4.27	2	HFE2, BMP2
regulation of catabolic process (GO:0009894)	3.52	2	HAMP, HFE
primary metabolic process (GO:0044238)	0.69	2	HFE2, BMP2
cellular response to metal ion (GO:0071248)	4.81	2	HFE, TFR2
regulation of secretion (GO:0051046)	3.2	2	HFE, TFR2
positive regulation of secretion (GO:0051047)	3.85	2	HFE, TFR2
positive regulation of peptide secretion (GO:0002793)	5.22	2	HFE, TFR2
regulation of cell adhesion (GO:0030155)	3.27	2	BMP2, HFE
positive regulation of response to stimulus (GO:0048584)	2.18	2	BMP2, HFE
cellular response to inorganic substance (GO:0071241)	4.67	2	HFE, TFR2
negative regulation of signaling (GO:0023057)	2.65	2	HFE2, BMP2
negative regulation of cell adhesion (GO:0007162)	4.33	2	BMP2, HFE
regulation of secretion by cell (GO:1903530)	3.28	2	HFE, TFR2
negative regulation of cell communication (GO:0010648)	2.66	2	HFE2, BMP2
positive regulation of secretion by cell (GO:1903532)	3.93	2	HFE, TFR2
regulation of phosphate metabolic process (GO:0019220)	2.35	2	BMP2, HFE
positive regulation of receptor-mediated endocytosis (GO:0048260)	5.84	2	HAMP, HFE
positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)	5.86	2	BMP2, HFE
regulation of apoptotic process (GO:0042981)	2.5	2	SLC40A1, BMP2
cellular component organization or biogenesis (GO:0071840)	1.22	2	BMP2, HFE
response to endogenous stimulus (GO:0009719)	2.79	2	HFE2, BMP2
iron ion import into cell (GO:0097459)	7.53	2	HFE, TFR2
single-organism metabolic process (GO:0044710)	1.63	2	BMP2, FTH1
regulation of cell death (GO:0010941)	2.43	2	SLC40A1, BMP2
regulation of cellular catabolic process (GO:0031329)	3.83	2	HAMP, HFE
negative regulation of signal transduction (GO:0009968)	2.75	2	HFE2, BMP2
positive regulation of signal transduction (GO:0009967)	2.5	2	BMP2, HFE
inorganic ion import into cell (GO:0099587)	7.02	2	HFE, TFR2
positive regulation of protein phosphorylation (GO:0001934)	2.95	2	BMP2, HFE
response to growth factor (GO:0070848)	4.14	2	HFE2, BMP2
cellular component organization (GO:0016043)	1.24	2	BMP2, HFE
cellular response to organic substance (GO:0071310)	2.78	2	HFE2, BMP2
regulation of protein modification by small protein conjugation or removal (GO:1903320)	4.14	2	HAMP, HFE
organic substance metabolic process (GO:0071704)	0.63	2	HFE2, BMP2
regulation of programmed cell death (GO:0043067)	2.49	2	SLC40A1, BMP2
regulation of ion transport (GO:0043269)	3.4	2	HAMP, HFE
positive regulation of molecular function (GO:0044093)	2.23	2	BMP2, HFE
negative regulation of molecular function (GO:0044092)	2.74	2	HAMP, HFE
regulation of protein ubiquitination (GO:0031396)	4.22	2	HAMP, HFE
regulation of iron ion transport (GO:0034756)	8.63	2	HAMP, HFE
iron ion import (GO:0097286)	7.33	2	HFE, TFR2
regulation of cell proliferation (GO:0042127)	2.41	2	BMP2, FTH1
negative regulation of cell proliferation (GO:0008285)	3.26	2	BMP2, FTH1
macromolecule metabolic process (GO:0043170)	0.83	2	HFE2, BMP2
positive regulation of phosphate metabolic process (GO:0045937)	2.78	2	BMP2, HFE
cellular response to iron ion (GO:0071281)	7.65	2	HFE, TFR2
epithelium development (GO:0060429)	4.57	2	SLC40A1, BMP2
positive regulation of protein binding (GO:0032092)	5.42	2	BMP2, HFE
tissue development (GO:0009888)	3.27	2	SLC40A1, BMP2
regulation of metal ion transport (GO:0010959)	3.94	2	HAMP, HFE
regulation of peptide hormone secretion (GO:0090276)	4.41	2	HFE, TFR2
regulation of hormone secretion (GO:0046883)	4.18	2	HFE, TFR2
regulation of protein binding (GO:0043393)	4.6	2	BMP2, HFE
inflammatory response (GO:0006954)	3.64	2	BMP2, HFE
positive regulation of hormone secretion (GO:0046887)	4.98	2	HFE, TFR2
divalent metal ion transport (GO:0070838)	4.15	2	SLC40A1, TFR2
regulation of receptor-mediated endocytosis (GO:0048259)	5.35	2	HAMP, HFE
response to organic substance (GO:0010033)	2.2	2	HFE2, BMP2
oxidation-reduction process (GO:0055114)	2.91	2	BMP2, FTH1
multi-organism process (GO:0051704)	2.65	2	HAMP, HFE
regulation of phosphorylation (GO:0042325)	2.5	2	BMP2, HFE
regulation of phosphorus metabolic process (GO:0051174)	2.35	2	BMP2, HFE
positive regulation of phosphorylation (GO:0042327)	2.9	2	BMP2, HFE
divalent inorganic cation transport (GO:0072511)	4.13	2	SLC40A1, TFR2
positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090100)	5.12	2	BMP2, HFE
response to external stimulus (GO:0009605)	2.55	2	HAMP, HFE
protein metabolic process (GO:0019538)	1.45	2	HFE2, BMP2
regulation of peptide secretion (GO:0002791)	4.38	2	HFE, TFR2
positive regulation of binding (GO:0051099)	4.88	2	BMP2, HFE
regulation of binding (GO:0051098)	4.08	2	BMP2, HFE
regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)	5.63	2	BMP2, HFE
cellular response to endogenous stimulus (GO:0071495)	3.33	2	HFE2, BMP2
cell communication (GO:0007154)	3.04	2	BMP2, HFE
positive regulation of peptide hormone secretion (GO:0090277)	5.26	2	HFE, TFR2
ferrous iron transport (GO:0015684)	8.12	2	SLC40A1, TFR2
inorganic cation import into cell (GO:0098659)	7.02	2	HFE, TFR2
import into cell (GO:0098657)	6.12	2	HFE, TFR2
regulation of protein phosphorylation (GO:0001932)	2.57	2	BMP2, HFE
positive regulation of phosphorus metabolic process (GO:0010562)	2.78	2	BMP2, HFE
response to BMP (GO:0071772)	6.17	2	HFE2, BMP2
cellular response to BMP stimulus (GO:0071773)	6.17	2	HFE2, BMP2

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
cellular homeostasis (GO:0019725)	-	3.23	0.0	SLC40A1, HAMP, FTH1, TFR2, HFE
metal ion homeostasis (GO:0055065)	-	3.61	0.0	BMP2, FTH1, HAMP, TFR2, HFE2, HFE, SLC40A1
cellular iron ion homeostasis (GO:0006879)	-	5.9	0.0	SLC40A1, HAMP, FTH1, TFR2, HFE
cellular metal ion homeostasis (GO:0006875)	-	3.75	0.0	SLC40A1, HAMP, FTH1, TFR2, HFE
ion homeostasis (GO:0050801)	-	3.42	0.0	HFE, FTH1, HAMP, TFR2, HFE2, BMP2, SLC40A1
transition metal ion transport (GO:0000041)	-	5.05	0.0	SLC40A1, HAMP, FTH1, TFR2, HFE
cellular ion homeostasis (GO:0006873)	-	3.57	0.0	SLC40A1, HAMP, FTH1, TFR2, HFE
chemical homeostasis (GO:0048878)	-	2.97	0.0	HFE, FTH1, HAMP, TFR2, HFE2, BMP2, SLC40A1
homeostatic process (GO:0042592)	-	2.61	0.0	FTH1, HAMP, TFR2, HFE2, HFE, SLC40A1
iron ion homeostasis (GO:0055072)	-	5.49	0.0	HFE, FTH1, HAMP, TFR2, HFE2, BMP2, SLC40A1
metal ion transport (GO:0030001)	-	3.36	0.02	SLC40A1, FTH1, TFR2, HFE
cellular cation homeostasis (GO:0030003)	-	3.6	0.015	SLC40A1, HAMP, FTH1, TFR2, HFE
transition metal ion homeostasis (GO:0055076)	-	5.09	0.0	HFE, FTH1, HAMP, TFR2, HFE2, BMP2, SLC40A1
cation homeostasis (GO:0055080)	-	3.46	0.0	HFE, FTH1, HAMP, TFR2, HFE2, BMP2, SLC40A1
cellular transition metal ion homeostasis (GO:0046916)	-	5.42	0.0	SLC40A1, HAMP, FTH1, TFR2, HFE
cellular chemical homeostasis (GO:0055082)	-	3.4	0.0	SLC40A1, HAMP, FTH1, TFR2, HFE
regulation of biological quality (GO:0065008)	-	1.68	0.001	BMP2, FTH1, HAMP, TFR2, HFE2, HFE, SLC40A1
multicellular organismal iron ion homeostasis (GO:0060586)	-	7.53	0.011	SLC40A1, HFE
iron ion transport (GO:0006826)	-	5.7	0.0	SLC40A1, HAMP, FTH1, TFR2, HFE

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

Shared terms

GO	IC	Number of genes with the same GO	Genes
cell part (GO:0044464)	0.11	7	BMP2, FTH1, HAMP, TFR2, HFE2, HFE, SLC40A1
membrane part (GO:0044425)	0.95	6	HFE, FTH1, TFR2, HFE2, BMP2, SLC40A1
protein complex (GO:0043234)	1.51	5	BMP2, HFE2, FTH1, TFR2, HFE
macromolecular complex (GO:0032991)	1.35	5	BMP2, HFE2, FTH1, TFR2, HFE
integral component of membrane (GO:0016021)	1.14	5	SLC40A1, HFE2, TFR2, FTH1, HFE
membrane (GO:0016020)	0.68	5	SLC40A1, HFE2, FTH1, TFR2, HFE
cytoplasmic part (GO:0044444)	0.82	5	SLC40A1, HAMP, FTH1, TFR2, HFE
intracellular part (GO:0044424)	0.28	5	SLC40A1, HAMP, FTH1, TFR2, HFE
plasma membrane part (GO:0044459)	1.95	5	BMP2, SLC40A1, HFE2, HFE, TFR2
extracellular region part (GO:0044421)	1.57	5	BMP2, HFE2, HAMP, HFE, FTH1
intrinsic component of membrane (GO:0031224)	1.13	5	SLC40A1, HFE2, FTH1, TFR2, HFE
receptor complex (GO:0043235)	4.01	4	BMP2, HFE2, HFE, TFR2
vesicle (GO:0031982)	1.64	4	SLC40A1, FTH1, TFR2, HFE
plasma membrane receptor complex (GO:0098802)	4.63	4	BMP2, HFE2, HFE, TFR2
plasma membrane protein complex (GO:0098797)	3.55	4	BMP2, HFE2, HFE, TFR2
membrane protein complex (GO:0098796)	2.84	4	BMP2, HFE2, HFE, TFR2
plasma membrane (GO:0005886)	1.39	4	SLC40A1, HFE2, HFE, TFR2
membrane-bounded organelle (GO:0043227)	0.47	4	SLC40A1, FTH1, TFR2, HFE
organelle (GO:0043226)	0.4	4	SLC40A1, FTH1, TFR2, HFE
extracellular space (GO:0005615)	2.63	4	HFE2, HAMP, BMP2, HFE
cytoplasm (GO:0005737)	1.01	3	SLC40A1, HAMP, TFR2
intracellular membrane-bounded organelle (GO:0043231)	0.6	3	SLC40A1, HFE, FTH1
cytoplasmic vesicle (GO:0031410)	2.87	3	SLC40A1, HFE, TFR2
cell (GO:0005623)	5.22	3	HAMP, HFE, FTH1
intracellular organelle (GO:0043229)	0.51	3	SLC40A1, HFE, FTH1
intracellular vesicle (GO:0097708)	2.86	3	SLC40A1, HFE, TFR2
integral component of plasma membrane (GO:0005887)	2.57	3	SLC40A1, HFE, TFR2
HFE-transferrin receptor complex (GO:1990712)	7.72	3	HFE2, HFE, TFR2
intrinsic component of plasma membrane (GO:0031226)	2.53	3	SLC40A1, HFE, TFR2
external side of plasma membrane (GO:0009897)	4.46	2	HFE, TFR2
BMP receptor complex (GO:0070724)	9.11	2	HFE2, BMP2
plasma membrane region (GO:0098590)	2.97	2	SLC40A1, HFE2
vacuole (GO:0005773)	2.92	2	SLC40A1, HFE
cell surface (GO:0009986)	3.44	2	HFE2, BMP2
membrane-bounded vesicle (GO:0031988)	1.71	2	SLC40A1, FTH1
extracellular region (GO:0005576)	2.18	2	HAMP, BMP2
side of membrane (GO:0098552)	4.22	2	HFE, TFR2
basolateral plasma membrane (GO:0016323)	4.56	2	SLC40A1, HFE2
endosome (GO:0005768)	3.25	2	SLC40A1, HFE
cell cortex part (GO:0044448)	5.01	2	HAMP, HFE

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
anchored component of membrane (GO:0031225)	NEW	4.77	0.003	HFE2, HAMP, BMP2, HFE