Disease table of MARFAN SYNDROME OMIM ID: 154700

Gene-disease associations table

Gene	Associated with MARFAN SYNDROME in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
MYH11	ClinVar	HGNC link	16p13.11	3	154700, 155310, PS607086
LTBP2	ClinVar	HGNC link	14q24.3	7	154700, 251750, 129600, PS277600, 177650, 613086, 137760
FBN2	ClinVar	HGNC link	5q23.3	3	616118, 154700, 121050
NOTCH1	ClinVar	HGNC link	9q34.3	6	PS109730, 130020, 154700, 234750, 140500, PS100300
FBN1	ClinVar, OMIM, HUMSAVAR	HGNC link	15q21.1	9	154700, 102370, 129600, PS277600, PS142623, PS231050, 616914, 604308, 184900
COL5A2	ClinVar	HGNC link	2q32.2	2	154700, 130000
COL5A1	ClinVar	HGNC link	9q34.3	3	154700, 130000, PS109730
COL3A1	ClinVar	HGNC link	2q32.2	3	154700, 130020, 130050

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD

Common tandem group	Number of genes in this tandem group associated to this disease	Genes in this tandem group associated to this disease
Group 142	2	COL3A1, COL5A2

Cytogenetic band analysis

By sub-band

Shared sub_band	Number of genes associated with the disease	Genes associated with the disease
9q34.3	2	COL5A1, NOTCH1
2q32.2	2	COL3A1, COL5A2

By band

Shared band	Number of genes associated with the disease	Genes associated with the disease
2q32	2	COL3A1, COL5A2
9q34	2	COL5A1, NOTCH1

By region

Shared region	Number of genes associated with the disease	Genes associated with the disease
2q3	2	COL3A1, COL5A2
9q3	2	COL5A1, NOTCH1

By arm

Shared arm	Number of genes associated with the disease	Genes associated with the disease
2q	2	COL3A1, COL5A2
9q	2	COL5A1, NOTCH1

By chromosome

Shared chromosome	Number of genes associated with the disease	Genes associated with the disease
2	2	COL3A1, COL5A2
9	2	COL5A1, NOTCH1

Transcription Factors (TF) annotation from TRRUST

regulated gene	associated to this disease	# TFs	TFs
MYH11	YES	1	KLF5
NOTCH1	YES	1	SIRT1
FBN1	YES	2	SP1, PARP1

Interactions from BIOGRID - physical

Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
MYH11	FBN1	No	1	MYOC
MYH11	COL3A1	No	2	SP1, MYOC
FBN2	FBN1	No	2	ELN, ZFP41
NOTCH1	COL3A1	No	1	CAND1
FBN1	COL3A1	No	1	MYOC
COL5A2	COL5A1	No	2	TGM2, FBXW11
COL5A1	COL3A1	No	5	MAG, PDGFB, THBS1, PDGFA, SPARC

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

Interactions from BIOGRID - genetic

Interactions from STRING

Gene1	Gene2	Direct Interaction	Interaction mode	Number of shared interactors	Shared genes in interaction
MYH11	NOTCH1	Yes	activation, binding	1	UBC
MYH11	COL5A2	No	-	2	ITGA1, ITGB5
MYH11	COL5A1	No	-	2	ITGA1, ITGB5
FBN2	NOTCH1	No	-	3	FURIN, MFAP5, MFAP2
FBN2	FBN1	Yes	reaction, binding	3	FURIN, MFAP5, MFAP2
NOTCH1	FBN1	No	-	4	FURIN, MFAP5, MFAP2, CTGF
FBN1	COL5A2	No	-	4	ITGA5, ITGB6, ITGAV, ITGB1
FBN1	COL5A1	No	-	4	ITGA5, ITGB6, ITGAV, ITGB1
COL5A2	COL5A1	Yes	binding	56	COL15A1, COL8A1, COL14A1, ITGA3, COL6A1, ITGA2B, COL11A1, COL4A6, ITGAV, COL9A2, ITGA11, ITGA9, COL25A1, ITGA6, ITGA5, COL21A1, COL5A3, COL4A2, PTK2, COL19A1, COL20A1, CD44, COL23A1, ITGB5, COL12A1, ITGA4, COL24A1, COL7A1, COL13A1, COL28A1, ITGB6, ITGA7, COL2A1, COL27A1, COL4A1, SDC4, COL16A1, ITGB7, ITGB4, ITGA2, COL22A1, COL6A2, ITGB8, ITGB1, ITGA8, LUM, COL9A3, COL17A1, COL4A5, COL10A1, ITGA1, SDC1, COL8A2, COL9A1, COL18A1, COL6A3

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

Gene1	Gene2	Direct interaction	More information
COL5A1	COL5A2	yes, complex	They form trimers of two alpha 1(V) and one alpha 2(V) chains in most tissues and trimers of one alpha 1(V), one alpha 2(V), and one alpha 3(V) chains in placenta. [UniProt]
FBN1	LTBP2	yes, they interact	LTBP2 interacts (via C-terminal domain) with FBN1 (via N-terminal domain) in a Ca(+2)-dependent manner. [UniProt]

KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG term	KEGG term ID	IC	Number of genes with the same term	Genes
Platelet activation	hsa04611	5.66	3	COL5A2, COL5A1, COL3A1
Protein digestion and absorption	hsa04974	6.2	3	COL5A2, COL5A1, COL3A1
ECM-receptor interaction	hsa04512	6.09	3	COL5A2, COL5A1, COL3A1
Focal adhesion	hsa04510	4.92	3	COL5A2, COL5A1, COL3A1
Amoebiasis	hsa05146	5.82	3	COL5A2, COL5A1, COL3A1
PI3K-Akt signaling pathway	hsa04151	4.21	3	COL5A2, COL5A1, COL3A1

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
Protein digestion and absorption (hsa04974)	-	6.2	0.001	COL5A2, COL5A1, COL3A1
Infectious diseases: Parasitic	NEW	4.46	0.025	COL5A2, COL5A1, COL3A1
Signaling molecules and interaction	NEW	3.09	0.004	COL3A1, MYH11, COL5A2, NOTCH1, FBN1, COL5A1
Digestive system	NEW	4.12	0.007	COL3A1, NOTCH1, COL5A2, MYH11, COL5A1
ECM-receptor interaction (hsa04512)	-	6.09	0.001	COL5A2, COL5A1, COL3A1
Focal adhesion (hsa04510)	-	4.92	0.0	NOTCH1, COL5A2, MYH11, COL5A1, COL3A1
Cellular community	NEW	3.57	0.001	COL3A1, MYH11, COL5A2, NOTCH1, FBN1, COL5A1
Amoebiasis (hsa05146)	-	5.82	0.037	COL5A2, COL5A1, COL3A1
Platelet activation (hsa04611)	-	5.66	0.002	COL5A2, COL5A1, COL3A1
PI3K-Akt signaling pathway (hsa04151)	-	4.21	0.003	NOTCH1, COL5A2, MYH11, COL5A1, COL3A1

REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME term	REACTOME term ID	IC	Number of genes with the same term	Genes
Extracellular matrix organization	R-HSA-1474244	4.91	6	COL3A1, COL5A2, FBN1, COL5A1, LTBP2, FBN2
Signal Transduction	R-HSA-162582	1.78	5	NOTCH1, COL5A2, MYH11, COL5A1, COL3A1
Degradation of the extracellular matrix	R-HSA-1474228	6.11	5	COL5A2, FBN1, COL5A1, COL3A1, FBN2
Developmental Biology	R-HSA-1266738	3.48	5	COL3A1, NOTCH1, COL5A2, MYH11, COL5A1
Integrin cell surface interactions	R-HSA-216083	6.57	4	COL5A2, COL5A1, COL3A1, FBN1
Axon guidance	R-HSA-422475	3.93	4	MYH11, COL5A2, COL5A1, COL3A1
Signaling by PDGF	R-HSA-186797	4.53	3	COL5A2, COL5A1, COL3A1
Molecules associated with elastic fibres	R-HSA-2129379	7.73	3	FBN1, LTBP2, FBN2
Elastic fibre formation	R-HSA-1566948	7.49	3	FBN1, LTBP2, FBN2
Collagen degradation	R-HSA-1442490	7.03	3	COL5A2, COL5A1, COL3A1
ECM proteoglycans	R-HSA-3000178	6.75	3	COL5A2, COL5A1, COL3A1
NCAM signaling for neurite out-growth	R-HSA-375165	4.9	3	COL5A2, COL5A1, COL3A1
NCAM1 interactions	R-HSA-419037	7.59	3	COL5A2, COL5A1, COL3A1
Collagen formation	R-HSA-1474290	6.56	3	COL5A2, COL5A1, COL3A1
Syndecan interactions	R-HSA-3000170	8.23	3	COL5A2, COL5A1, COL3A1
Non-integrin membrane-ECM interactions	R-HSA-3000171	7.1	3	COL5A2, COL5A1, COL3A1
Collagen biosynthesis and modifying enzymes	R-HSA-1650814	6.98	3	COL5A2, COL5A1, COL3A1
Assembly of collagen fibrils and other multimeric structures	R-HSA-2022090	7.2	3	COL5A2, COL5A1, COL3A1

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
Integrin cell surface interactions (R-HSA-216083)	-	6.57	0.0	COL5A2, COL5A1, COL3A1, FBN1
Molecules associated with elastic fibres (R-HSA-2129379)	-	7.73	0.0	FBN1, LTBP2, NOTCH1, FBN2
Elastic fibre formation (R-HSA-1566948)	-	7.49	0.0	FBN1, LTBP2, NOTCH1, FBN2
Degradation of the extracellular matrix (R-HSA-1474228)	-	6.11	0.0	COL3A1, COL5A2, NOTCH1, FBN1, COL5A1, FBN2
Collagen degradation (R-HSA-1442490)	-	7.03	0.0	NOTCH1, COL5A2, COL5A1, COL3A1
ECM proteoglycans (R-HSA-3000178)	-	6.75	0.003	COL5A2, COL5A1, COL3A1
NCAM1 interactions (R-HSA-419037)	-	7.59	0.005	COL5A2, COL5A1, COL3A1
Extracellular matrix organization (R-HSA-1474244)	-	4.91	0.0	NOTCH1, MYH11, COL5A2, COL3A1, FBN1, COL5A1, LTBP2, FBN2
Collagen formation (R-HSA-1474290)	-	6.56	0.004	COL5A2, COL5A1, COL3A1
Syndecan interactions (R-HSA-3000170)	-	8.23	0.0	COL5A2, COL5A1, COL3A1
Non-integrin membrane-ECM interactions (R-HSA-3000171)	-	7.1	0.013	COL5A2, COL5A1, COL3A1
Collagen biosynthesis and modifying enzymes (R-HSA-1650814)	-	6.98	0.002	COL5A2, COL5A1, COL3A1
Assembly of collagen fibrils and other multimeric structures (R-HSA-2022090)	-	7.2	0.001	COL5A2, COL5A1, COL3A1
Developmental Biology (R-HSA-1266738)	-	3.48	0.015	COL3A1, NOTCH1, COL5A2, MYH11, COL5A1

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

Shared terms

GO	IC	Number of genes with the same GO	Genes
binding (GO:0005488)	0.18	8	NOTCH1, MYH11, COL5A2, COL3A1, FBN1, COL5A1, LTBP2, FBN2
protein binding (GO:0005515)	0.46	8	NOTCH1, MYH11, COL5A2, COL3A1, FBN1, COL5A1, LTBP2, FBN2
cation binding (GO:0043169)	1.4	7	NOTCH1, COL5A2, COL3A1, FBN1, COL5A1, LTBP2, FBN2
metal ion binding (GO:0046872)	1.41	7	NOTCH1, COL5A2, COL3A1, FBN1, COL5A1, LTBP2, FBN2
ion binding (GO:0043167)	1.36	7	NOTCH1, COL5A2, COL3A1, FBN1, COL5A1, LTBP2, FBN2
structural molecule activity (GO:0005198)	3.1	6	COL3A1, MYH11, COL5A2, FBN1, COL5A1, FBN2
extracellular matrix structural constituent (GO:0005201)	5.37	5	COL5A2, FBN1, COL5A1, COL3A1, FBN2
macromolecular complex binding (GO:0044877)	2.61	5	NOTCH1, COL3A1, MYH11, COL5A1, FBN1
protein complex binding (GO:0032403)	3.09	4	COL3A1, MYH11, COL5A1, FBN1
receptor binding (GO:0005102)	2.43	4	NOTCH1, COL3A1, FBN1, COL5A1
calcium ion binding (GO:0005509)	3.17	4	FBN1, LTBP2, NOTCH1, FBN2
carbohydrate derivative binding (GO:0097367)	2.03	3	LTBP2, COL5A1, MYH11
integrin binding (GO:0005178)	5.07	3	COL3A1, FBN1, COL5A1
cell adhesion molecule binding (GO:0050839)	4.5	3	COL3A1, FBN1, COL5A1
growth factor binding (GO:0019838)	4.89	3	COL3A1, LTBP2, COL5A1
sulfur compound binding (GO:1901681)	4.32	2	COL5A1, LTBP2
SMAD binding (GO:0046332)	5.45	2	COL5A2, COL3A1
organic cyclic compound binding (GO:0097159)	1.05	2	NOTCH1, MYH11
extracellular matrix constituent conferring elasticity (GO:0030023)	7.95	2	FBN1, FBN2
heparin binding (GO:0008201)	4.68	2	COL5A1, LTBP2
glycosaminoglycan binding (GO:0005539)	4.42	2	COL5A1, LTBP2
platelet-derived growth factor binding (GO:0048407)	7.34	2	COL3A1, COL5A1
heterocyclic compound binding (GO:1901363)	1.06	2	NOTCH1, MYH11
structural molecule activity conferring elasticity (GO:0097493)	7.66	2	FBN1, FBN2

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
integrin binding (GO:0005178)	-	5.07	0.034	COL3A1, FBN1, COL5A1
extracellular matrix structural constituent (GO:0005201)	-	5.37	0.0	COL3A1, COL5A2, NOTCH1, FBN1, COL5A1, FBN2
cell adhesion molecule binding (GO:0050839)	-	4.5	0.006	NOTCH1, COL3A1, FBN1, COL5A1
cation binding (GO:0043169)	-	1.4	0.026	NOTCH1, COL5A2, COL3A1, FBN1, COL5A1, LTBP2, FBN2
growth factor binding (GO:0019838)	-	4.89	0.001	COL3A1, MYH11, NOTCH1, FBN1, COL5A1, LTBP2
ion binding (GO:0043167)	-	1.36	0.024	NOTCH1, MYH11, COL5A2, COL3A1, FBN1, COL5A1, LTBP2, FBN2
SMAD binding (GO:0046332)	-	5.45	0.028	COL5A2, COL3A1
metal ion binding (GO:0046872)	-	1.41	0.023	NOTCH1, COL5A2, COL3A1, FBN1, COL5A1, LTBP2, FBN2
calcium ion binding (GO:0005509)	-	3.17	0.014	FBN1, LTBP2, NOTCH1, FBN2
platelet-derived growth factor binding (GO:0048407)	-	7.34	0.001	COL3A1, COL5A1
structural molecule activity (GO:0005198)	-	3.1	0.0	NOTCH1, MYH11, COL5A2, COL3A1, FBN1, COL5A1, FBN2

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	8	NOTCH1, MYH11, COL5A2, COL3A1, FBN1, COL5A1, LTBP2, FBN2
single-organism cellular process (GO:0044763)	0.65	8	NOTCH1, MYH11, COL5A2, COL3A1, FBN1, COL5A1, LTBP2, FBN2
cellular component organization or biogenesis (GO:0071840)	1.22	8	NOTCH1, MYH11, COL5A2, COL3A1, FBN1, COL5A1, LTBP2, FBN2
single-organism process (GO:0044699)	0.48	8	NOTCH1, MYH11, COL5A2, COL3A1, FBN1, COL5A1, LTBP2, FBN2
cellular component organization (GO:0016043)	1.24	8	NOTCH1, MYH11, COL5A2, COL3A1, FBN1, COL5A1, LTBP2, FBN2
developmental process (GO:0032502)	1.36	7	NOTCH1, MYH11, COL5A2, COL3A1, FBN1, COL5A1, FBN2
anatomical structure development (GO:0048856)	1.58	7	NOTCH1, MYH11, COL5A2, COL3A1, FBN1, COL5A1, FBN2
regulation of cellular process (GO:0050794)	0.5	7	NOTCH1, COL5A2, COL3A1, FBN1, COL5A1, LTBP2, FBN2
single-organism developmental process (GO:0044767)	1.49	7	NOTCH1, MYH11, COL5A2, COL3A1, FBN1, COL5A1, FBN2
extracellular matrix organization (GO:0030198)	4.01	7	COL3A1, MYH11, COL5A2, FBN1, COL5A1, LTBP2, FBN2
biological regulation (GO:0065007)	0.39	7	NOTCH1, COL5A2, COL3A1, FBN1, COL5A1, LTBP2, FBN2
extracellular structure organization (GO:0043062)	4.0	7	COL3A1, MYH11, COL5A2, FBN1, COL5A1, LTBP2, FBN2
regulation of biological process (GO:0050789)	0.45	7	NOTCH1, COL5A2, COL3A1, FBN1, COL5A1, LTBP2, FBN2
animal organ development (GO:0048513)	2.53	6	COL3A1, COL5A2, NOTCH1, FBN1, COL5A1, FBN2
anatomical structure morphogenesis (GO:0009653)	2.53	6	COL3A1, COL5A2, NOTCH1, FBN1, COL5A1, FBN2
negative regulation of cellular process (GO:0048523)	1.41	6	COL3A1, COL5A2, NOTCH1, FBN1, COL5A1, FBN2
negative regulation of biological process (GO:0048519)	1.33	6	COL3A1, COL5A2, NOTCH1, FBN1, COL5A1, FBN2
regulation of developmental process (GO:0050793)	2.1	5	NOTCH1, COL5A2, COL5A1, COL3A1, FBN2
regulation of cell differentiation (GO:0045595)	2.42	5	NOTCH1, COL5A2, COL5A1, COL3A1, FBN2
multicellular organismal process (GO:0032501)	1.45	5	NOTCH1, COL5A2, MYH11, COL5A1, COL3A1
regulation of multicellular organismal development (GO:2000026)	2.31	5	NOTCH1, COL5A2, COL5A1, COL3A1, FBN2
regulation of multicellular organismal process (GO:0051239)	1.87	5	NOTCH1, COL5A2, COL5A1, COL3A1, FBN2
macromolecular complex subunit organization (GO:0043933)	2.14	4	MYH11, COL5A2, COL5A1, COL3A1
negative regulation of response to stimulus (GO:0048585)	2.52	4	COL3A1, FBN1, NOTCH1, FBN2
regulation of response to stimulus (GO:0048583)	1.54	4	COL3A1, FBN1, NOTCH1, FBN2
cellular response to chemical stimulus (GO:0070887)	2.57	4	NOTCH1, COL5A2, FBN1, COL3A1
regulation of signaling (GO:0023051)	1.72	4	COL3A1, FBN1, NOTCH1, FBN2
regulation of cell communication (GO:0010646)	1.73	4	COL3A1, FBN1, NOTCH1, FBN2
response to endogenous stimulus (GO:0009719)	2.79	4	NOTCH1, COL5A2, FBN1, COL3A1
cellular response to stimulus (GO:0051716)	1.97	4	NOTCH1, COL5A2, FBN1, COL3A1
protein complex subunit organization (GO:0071822)	2.6	4	MYH11, COL5A2, COL5A1, COL3A1
regulation of signal transduction (GO:0009966)	1.84	4	COL3A1, FBN1, NOTCH1, FBN2
response to nitrogen compound (GO:1901698)	3.12	4	NOTCH1, COL5A2, FBN1, COL3A1
negative regulation of multicellular organismal process (GO:0051241)	2.84	4	NOTCH1, COL5A2, COL5A1, COL3A1
response to organic substance (GO:0010033)	2.2	4	NOTCH1, COL5A2, FBN1, COL3A1
organic substance metabolic process (GO:0071704)	0.63	4	NOTCH1, COL5A2, COL5A1, COL3A1
cellular response to organic substance (GO:0071310)	2.78	4	NOTCH1, COL5A2, FBN1, COL3A1
sensory organ morphogenesis (GO:0090596)	5.72	4	COL5A2, FBN1, COL5A1, FBN2
cellular response to endogenous stimulus (GO:0071495)	3.33	4	NOTCH1, COL5A2, FBN1, COL3A1
negative regulation of developmental process (GO:0051093)	3.17	4	NOTCH1, COL5A2, COL5A1, COL3A1
organ morphogenesis (GO:0009887)	3.55	4	COL5A2, FBN1, COL5A1, FBN2
eye morphogenesis (GO:0048592)	5.9	4	COL5A2, FBN1, COL5A1, FBN2
negative regulation of cell differentiation (GO:0045596)	3.33	4	NOTCH1, COL5A2, COL5A1, COL3A1
metabolic process (GO:0008152)	0.58	4	NOTCH1, COL5A2, COL5A1, COL3A1
response to chemical (GO:0042221)	1.98	4	NOTCH1, COL5A2, FBN1, COL3A1
localization (GO:0051179)	1.4	4	NOTCH1, LTBP2, FBN1, FBN2
response to oxygen-containing compound (GO:1901700)	2.57	4	NOTCH1, COL5A2, FBN1, COL3A1
single-multicellular organism process (GO:0044707)	1.78	4	NOTCH1, COL5A2, COL5A1, COL3A1
response to stimulus (GO:0050896)	1.22	4	NOTCH1, COL5A2, FBN1, COL3A1
macromolecule metabolic process (GO:0043170)	0.83	4	NOTCH1, COL5A2, COL5A1, COL3A1
response to organonitrogen compound (GO:0010243)	3.2	4	NOTCH1, COL5A2, FBN1, COL3A1
cellular response to nitrogen compound (GO:1901699)	3.79	3	COL5A2, FBN1, COL3A1
regulation of embryonic development (GO:0045995)	4.98	3	NOTCH1, COL5A2, COL5A1
regulation of anatomical structure morphogenesis (GO:0022603)	2.79	3	NOTCH1, COL5A2, COL5A1
skeletal system development (GO:0001501)	4.49	3	COL5A2, FBN1, COL3A1
signal transduction (GO:0007165)	1.28	3	COL3A1, LTBP2, NOTCH1
cell surface receptor signaling pathway (GO:0007166)	2.09	3	COL3A1, LTBP2, NOTCH1
collagen metabolic process (GO:0032963)	5.42	3	COL5A2, COL5A1, COL3A1
multicellular organism catabolic process (GO:0044243)	5.47	3	COL5A2, COL5A1, COL3A1
single-organism catabolic process (GO:0044712)	3.21	3	COL5A2, COL5A1, COL3A1
single-organism metabolic process (GO:0044710)	1.63	3	COL5A2, COL5A1, COL3A1
negative regulation of signal transduction (GO:0009968)	2.75	3	NOTCH1, FBN1, FBN2
extracellular fibril organization (GO:0043206)	7.16	3	COL3A1, LTBP2, COL5A1
fibril organization (GO:0097435)	6.78	3	COL3A1, LTBP2, COL5A1
negative regulation of cellular response to growth factor stimulus (GO:0090288)	4.92	3	NOTCH1, FBN1, FBN2
positive regulation of biological process (GO:0048518)	1.2	3	COL3A1, NOTCH1, FBN2
skin development (GO:0043588)	5.84	3	COL5A2, COL5A1, COL3A1
embryonic morphogenesis (GO:0048598)	3.72	3	NOTCH1, FBN1, FBN2
regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090092)	4.39	3	NOTCH1, FBN1, FBN2
heart development (GO:0007507)	4.24	3	COL3A1, FBN1, NOTCH1
regulation of cellular response to growth factor stimulus (GO:0090287)	4.29	3	NOTCH1, FBN1, FBN2
cellular component disassembly (GO:0022411)	3.52	3	FBN1, MYH11, FBN2
multicellular organismal macromolecule metabolic process (GO:0044259)	5.36	3	COL5A2, COL5A1, COL3A1
catabolic process (GO:0009056)	2.38	3	COL5A2, COL5A1, COL3A1
cellular response to oxygen-containing compound (GO:1901701)	3.22	3	COL5A2, FBN1, COL3A1
negative regulation of signaling (GO:0023057)	2.65	3	NOTCH1, FBN1, FBN2
negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090101)	5.1	3	NOTCH1, FBN1, FBN2
collagen catabolic process (GO:0030574)	5.57	3	COL5A2, COL5A1, COL3A1
multicellular organism metabolic process (GO:0044236)	5.2	3	COL5A2, COL5A1, COL3A1
collagen fibril organization (GO:0030199)	6.07	3	COL5A2, COL5A1, COL3A1
negative regulation of cell communication (GO:0010648)	2.66	3	NOTCH1, FBN1, FBN2
anatomical structure formation involved in morphogenesis (GO:0048646)	3.01	3	NOTCH1, MYH11, FBN2
system development (GO:0048731)	2.92	3	COL5A2, FBN1, COL3A1
cellular response to organonitrogen compound (GO:0071417)	3.87	3	COL5A2, FBN1, COL3A1
positive regulation of cellular process (GO:0048522)	1.3	3	COL3A1, NOTCH1, FBN2
protein localization (GO:0008104)	2.36	2	NOTCH1, LTBP2
regulation of primary metabolic process (GO:0080090)	1.08	2	NOTCH1, FBN1
regulation of metabolic process (GO:0019222)	1.02	2	NOTCH1, FBN1
positive regulation of response to stimulus (GO:0048584)	2.18	2	COL3A1, NOTCH1
cell development (GO:0048468)	3.28	2	NOTCH1, MYH11
limb morphogenesis (GO:0035108)	5.05	2	NOTCH1, FBN2
enzyme linked receptor protein signaling pathway (GO:0007167)	3.24	2	COL3A1, LTBP2
regulation of BMP signaling pathway (GO:0030510)	5.36	2	NOTCH1, FBN1
response to amino acid (GO:0043200)	5.12	2	COL5A2, COL3A1
cellular developmental process (GO:0048869)	1.82	2	NOTCH1, MYH11
response to growth factor (GO:0070848)	4.14	2	NOTCH1, FBN1
regulation of osteoblast differentiation (GO:0045667)	4.99	2	NOTCH1, FBN2
sequestering of TGFbeta in extracellular matrix (GO:0035583)	8.63	2	FBN1, FBN2
sequestering of extracellular ligand from receptor (GO:0035581)	7.65	2	FBN1, FBN2
negative regulation of cell development (GO:0010721)	4.02	2	COL3A1, NOTCH1
macromolecule localization (GO:0033036)	2.34	2	NOTCH1, LTBP2
regulation of macromolecule metabolic process (GO:0060255)	1.08	2	NOTCH1, FBN1
appendage morphogenesis (GO:0035107)	5.05	2	NOTCH1, FBN2
transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	4.6	2	COL3A1, LTBP2
establishment of protein localization (GO:0045184)	2.53	2	NOTCH1, LTBP2
maintenance of protein location (GO:0045185)	5.21	2	FBN1, FBN2
regulation of RNA biosynthetic process (GO:2001141)	1.55	2	NOTCH1, FBN1
negative regulation of BMP signaling pathway (GO:0030514)	5.97	2	NOTCH1, FBN1
negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	5.54	2	FBN1, FBN2
transforming growth factor beta receptor signaling pathway (GO:0007179)	5.19	2	COL3A1, LTBP2
maintenance of protein location in extracellular region (GO:0071694)	8.12	2	FBN1, FBN2
regulation of biological quality (GO:0065008)	1.68	2	FBN1, FBN2
response to external stimulus (GO:0009605)	2.55	2	COL3A1, NOTCH1
cell motility (GO:0048870)	3.02	2	COL5A1, NOTCH1
muscle tissue morphogenesis (GO:0060415)	5.62	2	COL3A1, NOTCH1
embryonic organ morphogenesis (GO:0048562)	4.92	2	FBN1, FBN2
negative regulation of gastrulation (GO:2000542)	7.78	2	COL5A2, COL5A1
movement of cell or subcellular component (GO:0006928)	2.61	2	COL5A1, NOTCH1
secretion by cell (GO:0032940)	3.59	2	NOTCH1, LTBP2
organic substance biosynthetic process (GO:1901576)	1.34	2	COL5A1, NOTCH1
cellular macromolecule metabolic process (GO:0044260)	0.93	2	COL3A1, NOTCH1
blood vessel development (GO:0001568)	4.95	2	COL3A1, COL5A1
regulation of immune system process (GO:0002682)	2.5	2	COL3A1, NOTCH1
negative regulation of immune system process (GO:0002683)	3.85	2	COL3A1, NOTCH1
cell migration (GO:0016477)	3.12	2	COL5A1, NOTCH1
extracellular negative regulation of signal transduction (GO:1900116)	7.02	2	FBN1, FBN2
extracellular regulation of signal transduction (GO:1900115)	7.02	2	FBN1, FBN2
protein secretion (GO:0009306)	4.97	2	NOTCH1, LTBP2
regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)	5.13	2	FBN1, FBN2
transport (GO:0006810)	1.51	2	NOTCH1, LTBP2
regulation of biosynthetic process (GO:0009889)	1.37	2	NOTCH1, FBN1
tissue development (GO:0009888)	3.27	2	COL5A1, NOTCH1
response to stress (GO:0006950)	1.8	2	COL3A1, NOTCH1
positive regulation of intracellular signal transduction (GO:1902533)	2.95	2	COL3A1, NOTCH1
regulation of ossification (GO:0030278)	4.53	2	NOTCH1, FBN2
regulation of intracellular signal transduction (GO:1902531)	2.31	2	COL3A1, NOTCH1
secretion (GO:0046903)	3.38	2	NOTCH1, LTBP2
sensory organ development (GO:0007423)	4.82	2	FBN1, FBN2
biosynthetic process (GO:0009058)	1.32	2	COL5A1, NOTCH1
regulation of transcription, DNA-templated (GO:0006355)	1.56	2	NOTCH1, FBN1
negative regulation of nervous system development (GO:0051961)	4.15	2	COL3A1, NOTCH1
regulation of transcription from RNA polymerase II promoter (GO:0006357)	2.24	2	NOTCH1, FBN1
regulation of cell motility (GO:2000145)	3.16	2	COL3A1, NOTCH1
positive regulation of signal transduction (GO:0009967)	2.5	2	COL3A1, NOTCH1
camera-type eye development (GO:0043010)	5.36	2	FBN1, FBN2
regulation of cellular component organization (GO:0051128)	2.01	2	COL5A1, NOTCH1
positive regulation of signaling (GO:0023056)	2.41	2	COL3A1, NOTCH1
regulation of cell development (GO:0060284)	3.01	2	COL3A1, NOTCH1
positive regulation of cell communication (GO:0010647)	2.41	2	COL3A1, NOTCH1
maintenance of location (GO:0051235)	4.77	2	FBN1, FBN2
regulation of neurogenesis (GO:0050767)	3.21	2	COL3A1, NOTCH1
establishment of localization (GO:0051234)	1.48	2	NOTCH1, LTBP2
positive regulation of multicellular organismal process (GO:0051240)	2.49	2	NOTCH1, FBN2
negative regulation of neurogenesis (GO:0050768)	4.22	2	COL3A1, NOTCH1
biological adhesion (GO:0022610)	2.81	2	COL3A1, COL5A1
extracellular matrix disassembly (GO:0022617)	5.38	2	FBN1, FBN2
muscle cell development (GO:0055001)	5.29	2	NOTCH1, MYH11
cardiac cell development (GO:0055006)	6.33	2	NOTCH1, MYH11
regulation of macromolecule biosynthetic process (GO:0010556)	1.43	2	NOTCH1, FBN1
negative regulation of cellular component movement (GO:0051271)	4.22	2	COL3A1, NOTCH1
regulation of nucleic acid-templated transcription (GO:1903506)	1.55	2	NOTCH1, FBN1
positive regulation of cell differentiation (GO:0045597)	3.01	2	NOTCH1, FBN2
cellular response to hormone stimulus (GO:0032870)	3.99	2	NOTCH1, FBN1
regulation of cellular component movement (GO:0051270)	3.08	2	COL3A1, NOTCH1
eye development (GO:0001654)	5.07	2	FBN1, FBN2
response to acid chemical (GO:0001101)	4.05	2	COL5A2, COL3A1
regulation of localization (GO:0032879)	1.94	2	COL3A1, NOTCH1
cellular response to growth factor stimulus (GO:0071363)	4.27	2	NOTCH1, FBN1
positive regulation of developmental process (GO:0051094)	2.77	2	NOTCH1, FBN2
response to hormone (GO:0009725)	3.33	2	NOTCH1, FBN1
regulation of RNA metabolic process (GO:0051252)	1.52	2	NOTCH1, FBN1
regulation of gastrulation (GO:0010470)	6.17	2	COL5A2, COL5A1
embryonic limb morphogenesis (GO:0030326)	5.24	2	NOTCH1, FBN2
regulation of cellular biosynthetic process (GO:0031326)	1.38	2	NOTCH1, FBN1
regulation of cellular metabolic process (GO:0031323)	1.07	2	NOTCH1, FBN1
cellular response to acid chemical (GO:0071229)	4.67	2	COL5A2, COL3A1
embryonic eye morphogenesis (GO:0048048)	6.64	2	FBN1, FBN2
negative regulation of cellular response to transforming growth factor beta stimulus (GO:1903845)	5.54	2	FBN1, FBN2
regulation of cellular response to transforming growth factor beta stimulus (GO:1903844)	5.13	2	FBN1, FBN2
regulation of cellular macromolecule biosynthetic process (GO:2000112)	1.46	2	NOTCH1, FBN1
regulation of nervous system development (GO:0051960)	3.1	2	COL3A1, NOTCH1
tissue morphogenesis (GO:0048729)	3.87	2	COL3A1, NOTCH1
organic substance transport (GO:0071702)	2.15	2	NOTCH1, LTBP2
negative regulation of endodermal cell differentiation (GO:1903225)	8.63	2	COL5A2, COL5A1
regulation of endodermal cell differentiation (GO:1903224)	7.94	2	COL5A2, COL5A1
regulation of gene expression (GO:0010468)	1.37	2	NOTCH1, FBN1
negative regulation of cell migration (GO:0030336)	4.41	2	COL3A1, NOTCH1
regulation of cell migration (GO:0030334)	3.23	2	COL3A1, NOTCH1
cellular response to amino acid stimulus (GO:0071230)	5.7	2	COL5A2, COL3A1
regulation of nucleobase-containing compound metabolic process (GO:0019219)	1.43	2	NOTCH1, FBN1
negative regulation of cell motility (GO:2000146)	4.36	2	COL3A1, NOTCH1
single-organism transport (GO:0044765)	2.18	2	NOTCH1, LTBP2
macromolecule biosynthetic process (GO:0009059)	1.61	2	COL5A1, NOTCH1
regulation of nitrogen compound metabolic process (GO:0051171)	1.36	2	NOTCH1, FBN1
embryonic appendage morphogenesis (GO:0035113)	5.24	2	NOTCH1, FBN2
cell adhesion (GO:0007155)	2.82	2	COL3A1, COL5A1
tube development (GO:0035295)	4.41	2	COL3A1, NOTCH1
single-organism localization (GO:1902578)	2.09	2	NOTCH1, LTBP2
locomotion (GO:0040011)	2.91	2	COL5A1, NOTCH1
primary metabolic process (GO:0044238)	0.69	2	COL3A1, NOTCH1
negative regulation of locomotion (GO:0040013)	4.22	2	COL3A1, NOTCH1
regulation of locomotion (GO:0040012)	3.12	2	COL3A1, NOTCH1
negative regulation of embryonic development (GO:0045992)	6.47	2	COL5A2, COL5A1
cellular metabolic process (GO:0044237)	0.69	2	COL3A1, NOTCH1
response to peptide (GO:1901652)	3.94	2	NOTCH1, FBN1
protein transport (GO:0015031)	2.62	2	NOTCH1, LTBP2

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
regulation of embryonic development (GO:0045995)	-	4.98	0.006	NOTCH1, COL5A2, COL5A1
skeletal system development (GO:0001501)	-	4.49	0.023	COL3A1, COL5A2, NOTCH1, FBN1, COL5A1, FBN2
collagen metabolic process (GO:0032963)	-	5.42	0.001	NOTCH1, COL5A2, COL5A1, COL3A1
axon guidance (GO:0007411)	NEW	4.44	0.0	NOTCH1, MYH11, COL5A2, COL3A1, FBN1, COL5A1, FBN2
multicellular organismal catabolic process (GO:0044243)	-	5.47	0.003	NOTCH1, COL5A2, COL5A1, COL3A1
regulation of cell differentiation (GO:0045595)	-	2.42	0.049	NOTCH1, COL5A2, COL5A1, COL3A1, FBN2
neuron projection guidance (GO:0097485)	NEW	4.43	0.007	NOTCH1, MYH11, COL5A2, COL3A1, FBN1, COL5A1, FBN2
extracellular fibril organization (GO:0043206)	-	7.16	0.0	COL3A1, FBN1, COL5A1
fibril organization (GO:0097435)	-	6.78	0.009	COL3A1, FBN1, COL5A1
organ development (GO:0048513)	-	2.53	0.028	NOTCH1, COL5A2, COL5A1, COL3A1, FBN1
sequestering of TGFbeta in extracellular matrix (GO:0035583)	-	8.63	0.002	FBN1, FBN2
sequestering of extracellular ligand from receptor (GO:0035581)	-	7.65	0.003	FBN1, FBN2
extracellular structure organization (GO:0043062)	-	4.0	0.0	NOTCH1, MYH11, COL5A2, COL3A1, FBN1, COL5A1, FBN2
negative regulation of endodermal cell differentiation (GO:1903225)	-	8.63	0.0	COL5A2, COL5A1
regulation of endodermal cell differentiation (GO:1903224)	-	7.94	0.016	COL5A2, COL5A1
extracellular matrix disassembly (GO:0022617)	-	5.38	0.0	COL3A1, COL5A2, NOTCH1, FBN1, COL5A1, FBN2
skin development (GO:0043588)	-	5.84	0.0	COL5A2, COL5A1, COL3A1
extracellular regulation of signal transduction (GO:1900115)	-	7.02	0.011	FBN1, FBN2
regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090092)	-	4.39	0.033	NOTCH1, FBN1, FBN2
cellular response to amino acid stimulus (GO:0071230)	-	5.7	0.021	NOTCH1, COL5A2, COL3A1
elastic fiber assembly (GO:0048251)	NEW	7.78	0.025	FBN1, MYH11
cellular component disassembly (GO:0022411)	-	3.52	0.001	COL3A1, COL5A2, NOTCH1, FBN1, COL5A1, FBN2
multicellular organismal macromolecule metabolic process (GO:0044259)	-	5.36	0.001	NOTCH1, COL5A2, COL5A1, COL3A1
negative regulation of BMP signaling pathway (GO:0030514)	-	5.97	0.014	NOTCH1, MYH11, FBN1
maintenance of protein location in extracellular region (GO:0071694)	-	8.12	0.013	FBN1, FBN2
heart development (GO:0007507)	-	4.24	0.025	COL3A1, FBN1, NOTCH1
extracellular negative regulation of signal transduction (GO:1900116)	-	7.02	0.011	FBN1, FBN2
negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090101)	-	5.1	0.006	NOTCH1, MYH11, FBN1, FBN2
collagen catabolic process (GO:0030574)	-	5.57	0.002	NOTCH1, COL5A2, COL5A1, COL3A1
multicellular organismal metabolic process (GO:0044236)	-	5.2	0.002	NOTCH1, COL5A2, COL5A1, COL3A1
collagen fibril organization (GO:0030199)	-	6.07	0.014	COL5A2, COL5A1, COL3A1
extracellular matrix organization (GO:0030198)	-	4.01	0.0	NOTCH1, MYH11, COL5A2, COL3A1, FBN1, COL5A1, FBN2
regulation of gastrulation (GO:0010470)	-	6.17	0.048	NOTCH1, COL5A2, COL5A1
system development (GO:0048731)	-	2.92	0.009	NOTCH1, MYH11, COL5A2, COL3A1, FBN1, COL5A1, FBN2

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

Shared terms

GO	IC	Number of genes with the same GO	Genes
extracellular region (GO:0005576)	2.18	7	NOTCH1, COL5A2, COL3A1, FBN1, COL5A1, LTBP2, FBN2
extracellular region part (GO:0044421)	1.57	7	COL3A1, MYH11, COL5A2, FBN1, COL5A1, LTBP2, FBN2
cell part (GO:0044464)	0.11	6	COL3A1, MYH11, COL5A2, NOTCH1, COL5A1, LTBP2
proteinaceous extracellular matrix (GO:0005578)	4.01	6	COL3A1, COL5A2, FBN1, COL5A1, LTBP2, FBN2
extracellular matrix (GO:0031012)	3.81	6	COL3A1, COL5A2, FBN1, COL5A1, LTBP2, FBN2
protein complex (GO:0043234)	1.51	5	COL3A1, NOTCH1, COL5A2, MYH11, COL5A1
macromolecular complex (GO:0032991)	1.35	5	NOTCH1, COL5A2, MYH11, COL5A1, COL3A1
vesicle (GO:0031982)	1.64	5	LTBP2, COL5A1, MYH11, NOTCH1, FBN1
extracellular matrix component (GO:0044420)	4.97	5	COL5A2, FBN1, COL5A1, COL3A1, FBN2
membrane-bounded vesicle (GO:0031988)	1.71	5	LTBP2, COL5A1, MYH11, FBN1, NOTCH1
intracellular organelle part (GO:0044446)	0.81	5	COL3A1, NOTCH1, COL5A2, MYH11, COL5A1
cytoplasmic part (GO:0044444)	0.82	5	NOTCH1, COL5A2, MYH11, COL5A1, COL3A1
intracellular part (GO:0044424)	0.28	5	COL3A1, NOTCH1, COL5A2, MYH11, COL5A1
membrane-bounded organelle (GO:0043227)	0.47	5	LTBP2, NOTCH1, COL5A1, MYH11, FBN1
organelle (GO:0043226)	0.4	5	LTBP2, COL5A1, MYH11, NOTCH1, FBN1
organelle part (GO:0044422)	0.79	5	COL3A1, NOTCH1, COL5A2, MYH11, COL5A1
endoplasmic reticulum part (GO:0044432)	2.73	4	NOTCH1, COL5A2, COL5A1, COL3A1
extracellular vesicle (GO:1903561)	1.89	4	LTBP2, COL5A1, MYH11, FBN1
extracellular organelle (GO:0043230)	1.89	4	LTBP2, COL5A1, MYH11, FBN1
extracellular exosome (GO:0070062)	1.89	4	LTBP2, COL5A1, MYH11, FBN1
collagen trimer (GO:0005581)	5.21	3	COL5A2, COL5A1, COL3A1
organelle lumen (GO:0043233)	3.05	3	COL5A2, COL5A1, COL3A1
fibrillar collagen trimer (GO:0005583)	7.32	3	COL5A2, COL5A1, COL3A1
endoplasmic reticulum lumen (GO:0005788)	4.5	3	COL5A2, COL5A1, COL3A1
intracellular organelle lumen (GO:0070013)	3.05	3	COL5A2, COL5A1, COL3A1
membrane-enclosed lumen (GO:0031974)	3.05	3	COL5A2, COL5A1, COL3A1
extracellular space (GO:0005615)	2.63	3	COL3A1, LTBP2, FBN1
basement membrane (GO:0005604)	5.34	2	COL5A1, FBN1
fibril (GO:0043205)	7.16	2	FBN1, FBN2
intracellular membrane-bounded organelle (GO:0043231)	0.6	2	NOTCH1, MYH11
cytoplasmic, membrane-bounded vesicle (GO:0016023)	3.12	2	NOTCH1, MYH11
cytoplasmic vesicle (GO:0031410)	2.87	2	NOTCH1, MYH11
integral component of membrane (GO:0016021)	1.14	2	NOTCH1, FBN2
membrane (GO:0016020)	0.68	2	NOTCH1, FBN2
collagen type V trimer (GO:0005588)	8.7	2	COL5A2, COL5A1
intracellular organelle (GO:0043229)	0.51	2	NOTCH1, MYH11
intracellular vesicle (GO:0097708)	2.86	2	NOTCH1, MYH11
membrane part (GO:0044425)	0.95	2	NOTCH1, FBN2
microfibril (GO:0001527)	7.5	2	FBN1, FBN2
cytosol (GO:0005829)	1.68	2	NOTCH1, MYH11
intrinsic component of membrane (GO:0031224)	1.13	2	NOTCH1, FBN2

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
basement membrane (GO:0005604)	-	5.34	0.03	COL5A1, FBN1, NOTCH1, FBN2
fibril (GO:0043205)	-	7.16	0.001	FBN1, FBN2
collagen trimer (GO:0005581)	-	5.21	0.0	COL5A2, COL5A1, COL3A1
fibrillar collagen trimer (GO:0005583)	-	7.32	0.0	COL5A2, COL5A1, COL3A1
proteinaceous extracellular matrix (GO:0005578)	-	4.01	0.007	LTBP2, NOTCH1, MYH11, FBN1, FBN2
collagen type V trimer (GO:0005588)	-	8.7	0.0	COL5A2, COL5A1
endoplasmic reticulum lumen (GO:0005788)	-	4.5	0.003	NOTCH1, COL5A2, MYH11, COL5A1, COL3A1
extracellular matrix (GO:0031012)	-	3.81	0.0	NOTCH1, MYH11, COL5A2, COL3A1, FBN1, COL5A1, LTBP2, FBN2
endoplasmic reticulum part (GO:0044432)	-	2.73	0.042	NOTCH1, COL5A2, COL5A1, COL3A1
extracellular region (GO:0005576)	-	2.18	0.001	NOTCH1, MYH11, COL5A2, COL3A1, FBN1, COL5A1, LTBP2, FBN2
microfibril (GO:0001527)	-	7.5	0.0	FBN1, FBN2
extracellular matrix part (GO:0044420)	-	4.97	0.0	COL3A1, COL5A2, NOTCH1, FBN1, COL5A1, FBN2
extracellular region part (GO:0044421)	-	1.57	0.004	COL3A1, MYH11, COL5A2, FBN1, COL5A1, LTBP2, FBN2