Disease table of EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT OMIM ID: 130060

Gene-disease associations table

Gene	Associated with EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
COL1A2	OMIM	HGNC link	7q21.3	4	166710, PS166200, 225320, 130060
ALB	ClinVar	HGNC link	4q13.3	3	616000, 130060, 615999
COL1A1	OMIM	HGNC link	17q21.33	5	166710, 130000, PS166200, 114000, 130060

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
STAT6	NO	38	BCL2L1, CCL11, CYP2E1, ORMDL3, ALOX15, ITGA2B, ADRA2B, EGLN3, FOS, IL13, PTGS2, SELE, EGR1, ALOX12, NCOA3, SOCS1, CYSLTR1, STAT1, SIDT1, CCL26, COL1A2, HSD3B2, FOSB, CNR1, CISH, SELP, OPRM1, CXCL8, CD40, DUSP1, IL24, FCER2, IRF4, IL1R1, CCL17, IL4, RHOA, COL1A1	2	COL1A2, COL1A1
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	COL1A2, COL1A1
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	COL1A2, COL1A1
MYB	NO	33	COL1A2, MYB, COL1A1, IL7, CEBPA, CTSG, GSTM1, IL15, SIM2, ERBB2, RAG2, TK1, WAS, CLEC4G, CDO1, LCK, DHRS2, CD34, GATA1, ICAM1, ANPEP, GATA3, BCL2, NR3C1, CD4, CCNA1, CSF3R, ELANE, SP3, NMU, MYC, MAT2A, PRTN3	2	COL1A2, COL1A1
CIITA	NO	30	IRF2, HDAC2, COL1A2, HLA-DRB4, HLA-DRB1, HLA-DRB3, HLA-DRA, IL4, HLA-DMA, HLA-C, SIRT1, HLA-DQB1, HLA-B, SLC26A3, HLA-A, PLXNA1, COL1A1, HLA-DMB, HLA-DRB5, S100A4, MMP9, IRF1, PSMC5, HLA-DOB, HLA-DOA, HLA-DPB1, HLA-G, RAB4B, CREBBP, FASLG	2	COL1A2, COL1A1

regulated gene	associated to this disease	# TFs	TFs
COL1A2	YES	9	RFX5, STAT6, YY1, CEBPZ, MYB, RELA, CIITA, NFKB1, SIRT1
ALB	YES	4	CEBPB, TEF, HNF1A, CEBPA
COL1A1	YES	12	SP1, RELA, NFKB1, MYBL2, TFAP2A, SP3, MYB, NFIC, MKL1, CIITA, STAT6, ETS1

Interactions from BIOGRID - physical

Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
COL1A2	ALB	No	1	PAN2
COL1A2	COL1A1	Yes	5	CAMKMT, ERAL1, PDGFA, PDGFB, COL1A1
ALB	COL1A1	No	1	ITGA2

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

Interactions from BIOGRID - genetic

Interactions from STRING

Interactions from CORUM

Interactions from CENSUS

Interactions from PDB

Gene1	Gene2	Interaction	Number of common interactors	Common genes in interaction
COL1A2	COL1A1	Yes	5	COL9A2, COL9A3, COL1A2, COL9A1, COL1A1

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
Protein digestion and absorption	hsa04974	6.2	2	COL1A2, COL1A1
ECM-receptor interaction	hsa04512	6.09	2	COL1A2, COL1A1
Focal adhesion	hsa04510	4.92	2	COL1A2, COL1A1
Amoebiasis	hsa05146	5.82	2	COL1A2, COL1A1
Platelet activation	hsa04611	5.66	2	COL1A2, COL1A1
PI3K-Akt signaling pathway	hsa04151	4.21	2	COL1A2, COL1A1

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
Platelet activation (hsa04611)	-	5.66	0.007	COL1A2, COL1A1
Focal adhesion (hsa04510)	-	4.92	0.008	ALB, COL1A1, COL1A2
Proteoglycans in cancer (hsa05205)	NEW	5.02	0.008	COL1A2, COL1A1, ALB
ECM-receptor interaction (hsa04512)	-	6.09	0.004	COL1A2, COL1A1
Infectious diseases: Parasitic	NEW	4.46	0.04	ALB, COL1A1, COL1A2
Amoebiasis (hsa05146)	-	5.82	0.005	COL1A2, COL1A1, ALB
Malaria (hsa05144)	NEW	7.15	0.033	COL1A2, ALB
Protein digestion and absorption (hsa04974)	-	6.2	0.003	COL1A2, COL1A1
HTLV-I infection (hsa05166)	NEW	4.59	0.03	COL1A2, COL1A1, ALB
PI3K-Akt signaling pathway (hsa04151)	-	4.21	0.05	COL1A2, COL1A1

REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME term	REACTOME term ID	IC	Number of genes with the same term	Genes
Platelet activation, signaling and aggregation	R-HSA-76002	5.15	3	COL1A2, COL1A1, ALB
Hemostasis	R-HSA-109582	3.98	3	COL1A2, COL1A1, ALB
Binding and Uptake of Ligands by Scavenger Receptors	R-HSA-2173782	5.38	3	ALB, COL1A1, COL1A2
Vesicle-mediated transport	R-HSA-5653656	4.33	3	ALB, COL1A1, COL1A2
Integrin cell surface interactions	R-HSA-216083	6.57	2	COL1A2, COL1A1
Scavenging by Class A Receptors	R-HSA-3000480	8.73	2	COL1A2, COL1A1
GPVI-mediated activation cascade	R-HSA-114604	7.18	2	COL1A2, COL1A1
Anchoring fibril formation	R-HSA-2214320	9.08	2	COL1A2, COL1A1
Crosslinking of collagen fibrils	R-HSA-2243919	9.52	2	COL1A2, COL1A1
Degradation of the extracellular matrix	R-HSA-1474228	6.11	2	COL1A2, COL1A1
ECM proteoglycans	R-HSA-3000178	6.75	2	COL1A2, COL1A1
Syndecan interactions	R-HSA-3000170	8.23	2	COL1A2, COL1A1
Extracellular matrix organization	R-HSA-1474244	4.91	2	COL1A2, COL1A1
Collagen formation	R-HSA-1474290	6.56	2	COL1A2, COL1A1
Platelet Adhesion to exposed collagen	R-HSA-75892	9.08	2	COL1A2, COL1A1
Non-integrin membrane-ECM interactions	R-HSA-3000171	7.1	2	COL1A2, COL1A1
Collagen biosynthesis and modifying enzymes	R-HSA-1650814	6.98	2	COL1A2, COL1A1
Cell surface interactions at the vascular wall	R-HSA-202733	6.32	2	COL1A2, COL1A1
Assembly of collagen fibrils and other multimeric structures	R-HSA-2022090	7.2	2	COL1A2, COL1A1
Collagen degradation	R-HSA-1442490	7.03	2	COL1A2, COL1A1

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
Molecules associated with elastic fibres (R-HSA-2129379)	NEW	7.73	0.012	COL1A2, COL1A1
GPVI-mediated activation cascade (R-HSA-114604)	-	7.18	0.005	COL1A2, COL1A1
Cell surface interactions at the vascular wall (R-HSA-202733)	-	6.32	0.016	COL1A2, COL1A1
Extracellular matrix organization (R-HSA-1474244)	-	4.91	0.018	ALB, COL1A1, COL1A2
Diseases of glycosylation (R-HSA-3781865)	NEW	6.89	0.022	COL1A2, COL1A1
Collagen degradation (R-HSA-1442490)	-	7.03	0.029	COL1A2, COL1A1
Integrin cell surface interactions (R-HSA-216083)	-	6.57	0.035	COL1A2, COL1A1
Elastic fibre formation (R-HSA-1566948)	NEW	7.49	0.019	COL1A2, COL1A1
Platelet activation, signaling and aggregation (R-HSA-76002)	-	5.15	0.013	ALB, COL1A1, COL1A2
Anchoring fibril formation (R-HSA-2214320)	-	9.08	0.0	COL1A2, COL1A1
Crosslinking of collagen fibrils (R-HSA-2243919)	-	9.52	0.0	COL1A2, COL1A1
ECM proteoglycans (R-HSA-3000178)	-	6.75	0.009	ALB, COL1A1, COL1A2
Syndecan interactions (R-HSA-3000170)	-	8.23	0.003	COL1A2, COL1A1
Non-integrin membrane-ECM interactions (R-HSA-3000171)	-	7.1	0.005	COL1A2, COL1A1
Collagen biosynthesis and modifying enzymes (R-HSA-1650814)	-	6.98	0.006	COL1A2, COL1A1
Platelet Adhesion to exposed collagen (R-HSA-75892)	-	9.08	0.001	COL1A2, COL1A1
Degradation of the extracellular matrix (R-HSA-1474228)	-	6.11	0.022	COL1A2, COL1A1
Vesicle-mediated transport (R-HSA-5653656)	-	4.33	0.004	ALB, COL1A1, COL1A2
Hemostasis (R-HSA-109582)	-	3.98	0.009	ALB, COL1A1, COL1A2
Collagen formation (R-HSA-1474290)	-	6.56	0.012	COL1A2, COL1A1
Scavenging by Class A Receptors (R-HSA-3000480)	-	8.73	0.001	COL1A2, COL1A1
Assembly of collagen fibrils and other multimeric structures (R-HSA-2022090)	-	7.2	0.005	COL1A2, COL1A1
Binding and Uptake of Ligands by Scavenger Receptors (R-HSA-2173782)	-	5.38	0.0	COL1A2, COL1A1, ALB

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

Shared terms

GO	IC	Number of genes with the same GO	Genes
cation binding (GO:0043169)	1.4	3	COL1A2, COL1A1, ALB
ion binding (GO:0043167)	1.36	3	ALB, COL1A1, COL1A2
binding (GO:0005488)	0.18	3	ALB, COL1A1, COL1A2
protein binding (GO:0005515)	0.46	3	ALB, COL1A1, COL1A2
metal ion binding (GO:0046872)	1.41	3	ALB, COL1A1, COL1A2
identical protein binding (GO:0042802)	2.63	3	ALB, COL1A1, COL1A2
platelet-derived growth factor binding (GO:0048407)	7.34	2	COL1A2, COL1A1
extracellular matrix structural constituent (GO:0005201)	5.37	2	COL1A2, COL1A1
growth factor binding (GO:0019838)	4.89	2	COL1A2, COL1A1
structural molecule activity (GO:0005198)	3.1	2	COL1A2, COL1A1

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
serine-type endopeptidase activity (GO:0004252)	NEW	4.4	0.003	COL1A2, COL1A1, ALB
extracellular matrix structural constituent (GO:0005201)	-	5.37	0.002	COL1A2, COL1A1
cytokine activity (GO:0005125)	NEW	4.34	0.007	COL1A2, COL1A1, ALB
endopeptidase inhibitor activity (GO:0004866)	NEW	4.6	0.004	ALB, COL1A1, COL1A2
monosaccharide binding (GO:0048029)	NEW	5.85	0.036	COL1A2, COL1A1
G-protein coupled receptor binding (GO:0001664)	NEW	4.18	0.009	ALB, COL1A1, COL1A2
enzyme inhibitor activity (GO:0004857)	NEW	3.78	0.049	ALB, COL1A1, COL1A2
serine-type peptidase activity (GO:0008236)	NEW	4.27	0.004	ALB, COL1A1, COL1A2
sulfur compound binding (GO:1901681)	NEW	4.32	0.01	ALB, COL1A1, COL1A2
peptide binding (GO:0042277)	NEW	4.22	0.009	COL1A2, COL1A1, ALB
growth factor binding (GO:0019838)	-	4.89	0.005	COL1A2, COL1A1
iron ion binding (GO:0005506)	NEW	4.65	0.003	ALB, COL1A1, COL1A2
integrin binding (GO:0005178)	NEW	5.07	0.001	ALB, COL1A1, COL1A2
serine hydrolase activity (GO:0017171)	NEW	4.26	0.004	COL1A2, COL1A1, ALB
amide binding (GO:0033218)	NEW	4.14	0.009	ALB, COL1A1, COL1A2
endopeptidase regulator activity (GO:0061135)	NEW	4.57	0.004	COL1A2, COL1A1, ALB
peptidase regulator activity (GO:0061134)	NEW	4.37	0.008	ALB, COL1A1, COL1A2
peptidase inhibitor activity (GO:0030414)	NEW	4.55	0.004	ALB, COL1A1, COL1A2
cell adhesion molecule binding (GO:0050839)	NEW	4.5	0.003	COL1A2, COL1A1, ALB
heparin binding (GO:0008201)	NEW	4.68	0.004	ALB, COL1A1, COL1A2
organic acid binding (GO:0043177)	NEW	6.6	0.007	ALB, COL1A1, COL1A2
carboxylic acid binding (GO:0031406)	NEW	4.64	0.007	COL1A2, COL1A1, ALB
vitamin binding (GO:0019842)	NEW	5.34	0.0	COL1A2, COL1A1, ALB
glycosaminoglycan binding (GO:0005539)	NEW	4.42	0.008	ALB, COL1A1, COL1A2
platelet-derived growth factor binding (GO:0048407)	-	7.34	0.0	COL1A2, COL1A1

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

Shared terms

GO	IC	Number of genes with the same GO	Genes
cellular response to stimulus (GO:0051716)	1.97	3	ALB, COL1A1, COL1A2
macromolecule metabolic process (GO:0043170)	0.83	3	ALB, COL1A1, COL1A2
response to stimulus (GO:0050896)	1.22	3	ALB, COL1A1, COL1A2
cellular process (GO:0009987)	0.26	3	ALB, COL1A1, COL1A2
regulation of cellular process (GO:0050794)	0.5	3	ALB, COL1A1, COL1A2
organic substance metabolic process (GO:0071704)	0.63	3	COL1A2, COL1A1, ALB
biological regulation (GO:0065007)	0.39	3	ALB, COL1A1, COL1A2
single-organism cellular process (GO:0044763)	0.65	3	ALB, COL1A1, COL1A2
single-organism process (GO:0044699)	0.48	3	ALB, COL1A1, COL1A2
metabolic process (GO:0008152)	0.58	3	ALB, COL1A1, COL1A2
response to chemical (GO:0042221)	1.98	3	COL1A2, COL1A1, ALB
regulation of biological quality (GO:0065008)	1.68	3	ALB, COL1A1, COL1A2
regulation of biological process (GO:0050789)	0.45	3	COL1A2, COL1A1, ALB
response to organic substance (GO:0010033)	2.2	3	COL1A2, COL1A1, ALB
developmental process (GO:0032502)	1.36	2	COL1A2, COL1A1
response to extracellular stimulus (GO:0009991)	3.71	2	ALB, COL1A1
cellular component assembly (GO:0022607)	2.14	2	COL1A2, COL1A1
hemostasis (GO:0007599)	4.5	2	COL1A2, COL1A1
regulation of multicellular organismal process (GO:0051239)	1.87	2	ALB, COL1A1
establishment of localization (GO:0051234)	1.48	2	ALB, COL1A1
macromolecular complex subunit organization (GO:0043933)	2.14	2	COL1A2, COL1A1
blood coagulation (GO:0007596)	4.52	2	COL1A2, COL1A1
regulation of response to stimulus (GO:0048583)	1.54	2	COL1A2, COL1A1
response to nutrient levels (GO:0031667)	3.77	2	ALB, COL1A1
skeletal system development (GO:0001501)	4.49	2	COL1A2, COL1A1
leukocyte migration (GO:0050900)	4.19	2	COL1A2, COL1A1
multicellular organismal process (GO:0032501)	1.45	2	COL1A2, COL1A1
cellular response to acid chemical (GO:0071229)	4.67	2	COL1A2, COL1A1
cellular response to chemical stimulus (GO:0070887)	2.57	2	COL1A2, COL1A1
collagen metabolic process (GO:0032963)	5.42	2	COL1A2, COL1A1
multicellular organism catabolic process (GO:0044243)	5.47	2	COL1A2, COL1A1
cellular component organization or biogenesis (GO:0071840)	1.22	2	COL1A2, COL1A1
cellular response to amino acid stimulus (GO:0071230)	5.7	2	COL1A2, COL1A1
single-organism catabolic process (GO:0044712)	3.21	2	COL1A2, COL1A1
response to amino acid (GO:0043200)	5.12	2	COL1A2, COL1A1
single-organism metabolic process (GO:0044710)	1.63	2	COL1A2, COL1A1
anatomical structure morphogenesis (GO:0009653)	2.53	2	COL1A2, COL1A1
protein complex subunit organization (GO:0071822)	2.6	2	COL1A2, COL1A1
response to nitrogen compound (GO:1901698)	3.12	2	COL1A2, COL1A1
blood vessel development (GO:0001568)	4.95	2	COL1A2, COL1A1
movement of cell or subcellular component (GO:0006928)	2.61	2	COL1A2, COL1A1
cellular component organization (GO:0016043)	1.24	2	COL1A2, COL1A1
response to endogenous stimulus (GO:0009719)	2.79	2	COL1A2, COL1A1
macromolecular complex assembly (GO:0065003)	2.55	2	COL1A2, COL1A1
protein oligomerization (GO:0051259)	3.71	2	COL1A2, COL1A1
cellular response to organic substance (GO:0071310)	2.78	2	COL1A2, COL1A1
extracellular matrix organization (GO:0030198)	4.01	2	COL1A2, COL1A1
regulation of immune system process (GO:0002682)	2.5	2	COL1A2, COL1A1
transport (GO:0006810)	1.51	2	ALB, COL1A1
extracellular structure organization (GO:0043062)	4.0	2	COL1A2, COL1A1
positive regulation of biological process (GO:0048518)	1.2	2	ALB, COL1A1
negative regulation of biological process (GO:0048519)	1.33	2	ALB, COL1A1
cell migration (GO:0016477)	3.12	2	COL1A2, COL1A1
skin morphogenesis (GO:0043589)	7.53	2	COL1A2, COL1A1
cellular response to endogenous stimulus (GO:0071495)	3.33	2	COL1A2, COL1A1
response to oxygen-containing compound (GO:1901700)	2.57	2	COL1A2, COL1A1
organ morphogenesis (GO:0009887)	3.55	2	COL1A2, COL1A1
protein complex assembly (GO:0006461)	2.78	2	COL1A2, COL1A1
protein trimerization (GO:0070206)	6.04	2	COL1A2, COL1A1
regulation of body fluid levels (GO:0050878)	3.76	2	COL1A2, COL1A1
cellular response to nitrogen compound (GO:1901699)	3.79	2	COL1A2, COL1A1
response to nutrient (GO:0007584)	4.49	2	ALB, COL1A1
protein heterotrimerization (GO:0070208)	7.09	2	COL1A2, COL1A1
protein heterooligomerization (GO:0051291)	5.22	2	COL1A2, COL1A1
single-organism developmental process (GO:0044767)	1.49	2	COL1A2, COL1A1
cellular response to external stimulus (GO:0071496)	4.2	2	ALB, COL1A1
response to stress (GO:0006950)	1.8	2	ALB, COL1A1
cellular response to nutrient levels (GO:0031669)	4.7	2	ALB, COL1A1
organic substance transport (GO:0071702)	2.15	2	ALB, COL1A1
multicellular organismal macromolecule metabolic process (GO:0044259)	5.36	2	COL1A2, COL1A1
cell communication (GO:0007154)	3.04	2	ALB, COL1A1
response to inorganic substance (GO:0010035)	3.56	2	ALB, COL1A1
catabolic process (GO:0009056)	2.38	2	COL1A2, COL1A1
localization (GO:0051179)	1.4	2	ALB, COL1A1
platelet activation (GO:0030168)	4.96	2	COL1A2, COL1A1
cellular localization (GO:0051641)	2.32	2	ALB, COL1A1
locomotion (GO:0040011)	2.91	2	COL1A2, COL1A1
cellular response to oxygen-containing compound (GO:1901701)	3.22	2	COL1A2, COL1A1
cellular response to extracellular stimulus (GO:0031668)	4.57	2	ALB, COL1A1
regulation of immune response (GO:0050776)	2.98	2	COL1A2, COL1A1
single-multicellular organism process (GO:0044707)	1.78	2	COL1A2, COL1A1
response to external stimulus (GO:0009605)	2.55	2	ALB, COL1A1
cell motility (GO:0048870)	3.02	2	COL1A2, COL1A1
response to organonitrogen compound (GO:0010243)	3.2	2	COL1A2, COL1A1
anatomical structure development (GO:0048856)	1.58	2	COL1A2, COL1A1
collagen catabolic process (GO:0030574)	5.57	2	COL1A2, COL1A1
multicellular organism metabolic process (GO:0044236)	5.2	2	COL1A2, COL1A1
immune system process (GO:0002376)	2.29	2	COL1A2, COL1A1
collagen fibril organization (GO:0030199)	6.07	2	COL1A2, COL1A1
coagulation (GO:0050817)	4.51	2	COL1A2, COL1A1
cellular response to organonitrogen compound (GO:0071417)	3.87	2	COL1A2, COL1A1
cell activation (GO:0001775)	3.47	2	COL1A2, COL1A1
system development (GO:0048731)	2.92	2	COL1A2, COL1A1
positive regulation of multicellular organismal process (GO:0051240)	2.49	2	ALB, COL1A1
negative regulation of cellular process (GO:0048523)	1.41	2	ALB, COL1A1
response to acid chemical (GO:0001101)	4.05	2	COL1A2, COL1A1

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
hemostasis (GO:0007599)	-	4.5	0.006	ALB, COL1A1, COL1A2
blood coagulation (GO:0007596)	-	4.52	0.005	COL1A2, COL1A1, ALB
female gonad development (GO:0008585)	NEW	6.64	0.018	COL1A2, COL1A1
bone development (GO:0060348)	NEW	5.82	0.0	COL1A2, COL1A1, ALB
collagen metabolic process (GO:0032963)	-	5.42	0.019	COL1A2, COL1A1
multicellular organismal catabolic process (GO:0044243)	-	5.47	0.018	COL1A2, COL1A1
cellular response to amino acid stimulus (GO:0071230)	-	5.7	0.006	COL1A2, COL1A1
response to amino acid (GO:0043200)	-	5.12	0.021	COL1A2, COL1A1
blood vessel development (GO:0001568)	-	4.95	0.021	COL1A2, COL1A1
response to wounding (GO:0009611)	NEW	4.39	0.028	ALB, COL1A1, COL1A2
response to mechanical stimulus (GO:0009612)	NEW	4.41	0.029	COL1A2, COL1A1, ALB
platelet activation (GO:0030168)	-	4.96	0.025	COL1A2, COL1A1, ALB
extracellular matrix disassembly (GO:0022617)	NEW	5.38	0.037	COL1A2, COL1A1
skin morphogenesis (GO:0043589)	-	7.53	0.003	COL1A2, COL1A1
protein heterotrimerization (GO:0070208)	-	7.09	0.0	COL1A2, COL1A1
protein trimerization (GO:0070206)	-	6.04	0.004	COL1A2, COL1A1
regulation of body fluid levels (GO:0050878)	-	3.76	0.011	COL1A2, COL1A1, ALB
camera-type eye morphogenesis (GO:0048593)	NEW	6.78	0.01	COL1A2, COL1A1
protein heterooligomerization (GO:0051291)	-	5.22	0.019	COL1A2, COL1A1
cell activation (GO:0001775)	-	3.47	0.01	COL1A2, COL1A1, ALB
coagulation (GO:0050817)	-	4.51	0.005	ALB, COL1A1, COL1A2
multicellular organismal macromolecule metabolic process (GO:0044259)	-	5.36	0.022	COL1A2, COL1A1
response to estrogen (GO:0043627)	NEW	5.25	0.026	ALB, COL1A1, COL1A2
tube development (GO:0035295)	NEW	4.41	0.033	COL1A2, COL1A1, ALB
glial cell migration (GO:0008347)	NEW	6.68	0.015	ALB, COL1A1
aging (GO:0007568)	NEW	4.16	0.049	COL1A2, COL1A1, ALB
collagen catabolic process (GO:0030574)	-	5.57	0.015	COL1A2, COL1A1
multicellular organismal metabolic process (GO:0044236)	-	5.2	0.025	COL1A2, COL1A1
collagen fibril organization (GO:0030199)	-	6.07	0.005	COL1A2, COL1A1
negative regulation of angiogenesis (GO:0016525)	NEW	5.42	0.002	COL1A2, COL1A1, ALB

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

Shared terms

GO	IC	Number of genes with the same GO	Genes
protein complex (GO:0043234)	1.51	3	ALB, COL1A1, COL1A2
macromolecular complex (GO:0032991)	1.35	3	ALB, COL1A1, COL1A2
vesicle (GO:0031982)	1.64	3	COL1A2, COL1A1, ALB
organelle lumen (GO:0043233)	3.05	3	COL1A2, COL1A1, ALB
extracellular region part (GO:0044421)	1.57	3	ALB, COL1A1, COL1A2
extracellular matrix component (GO:0044420)	4.97	3	COL1A2, COL1A1, ALB
cell part (GO:0044464)	0.11	3	COL1A2, COL1A1, ALB
membrane-enclosed lumen (GO:0031974)	3.05	3	ALB, COL1A1, COL1A2
membrane-bounded vesicle (GO:0031988)	1.71	3	COL1A2, COL1A1, ALB
intracellular organelle part (GO:0044446)	0.81	3	COL1A2, COL1A1, ALB
intracellular organelle lumen (GO:0070013)	3.05	3	COL1A2, COL1A1, ALB
cytoplasmic part (GO:0044444)	0.82	3	ALB, COL1A1, COL1A2
extracellular region (GO:0005576)	2.18	3	COL1A2, COL1A1, ALB
intracellular part (GO:0044424)	0.28	3	ALB, COL1A1, COL1A2
membrane-bounded organelle (GO:0043227)	0.47	3	COL1A2, COL1A1, ALB
organelle (GO:0043226)	0.4	3	COL1A2, COL1A1, ALB
organelle part (GO:0044422)	0.79	3	ALB, COL1A1, COL1A2
extracellular space (GO:0005615)	2.63	3	ALB, COL1A1, COL1A2
collagen type I trimer (GO:0005584)	9.11	2	COL1A2, COL1A1
Golgi apparatus (GO:0005794)	2.7	2	ALB, COL1A1
extracellular organelle (GO:0043230)	1.89	2	ALB, COL1A2
endoplasmic reticulum (GO:0005783)	2.56	2	ALB, COL1A1
fibrillar collagen trimer (GO:0005583)	7.32	2	COL1A2, COL1A1
cytoplasm (GO:0005737)	1.01	2	ALB, COL1A1
endoplasmic reticulum lumen (GO:0005788)	4.5	2	COL1A2, COL1A1
extracellular matrix (GO:0031012)	3.81	2	COL1A2, COL1A1
endoplasmic reticulum part (GO:0044432)	2.73	2	COL1A2, COL1A1
intracellular organelle (GO:0043229)	0.51	2	ALB, COL1A1
collagen trimer (GO:0005581)	5.21	2	COL1A2, COL1A1
intracellular membrane-bounded organelle (GO:0043231)	0.6	2	ALB, COL1A1
extracellular vesicle (GO:1903561)	1.89	2	ALB, COL1A2
proteinaceous extracellular matrix (GO:0005578)	4.01	2	COL1A2, COL1A1
extracellular exosome (GO:0070062)	1.89	2	COL1A2, ALB

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
collagen type I trimer (GO:0005584)	-	9.11	0.0	COL1A2, COL1A1
basement membrane (GO:0005604)	NEW	5.34	0.0	ALB, COL1A1, COL1A2
collagen trimer (GO:0005581)	-	5.21	0.03	COL1A2, COL1A1
fibrillar collagen trimer (GO:0005583)	-	7.32	0.0	COL1A2, COL1A1
secretory granule (GO:0030141)	NEW	4.34	0.004	COL1A2, COL1A1, ALB
organelle lumen (GO:0043233)	-	3.05	0.001	ALB, COL1A1, COL1A2
endoplasmic reticulum lumen (GO:0005788)	-	4.5	0.01	COL1A2, COL1A1
extracellular matrix (GO:0031012)	-	3.81	0.03	COL1A2, COL1A1
extracellular region (GO:0005576)	-	2.18	0.022	ALB, COL1A1, COL1A2
membrane-enclosed lumen (GO:0031974)	-	3.05	0.002	COL1A2, COL1A1, ALB
extracellular matrix part (GO:0044420)	-	4.97	0.0	ALB, COL1A1, COL1A2
extracellular space (GO:0005615)	-	2.63	0.008	COL1A2, COL1A1, ALB