Disease table of MARFAN SYNDROME OMIM ID: 154700

Gene-disease associations table

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

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Relations among genes:

Tandem repeat annotations from DGD

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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

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Cytogenetic band analysis

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

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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

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

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Interactions from BIOGRID - physical

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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

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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
MYH11	NOTCH1	Yes	activation, binding	1	UBC
FBN2	FBN1	Yes	reaction, binding	3	FURIN, MFAP5, MFAP2
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
MYH11	COL5A2	No	-	2	ITGA1, ITGB5
MYH11	COL5A1	No	-	2	ITGA1, ITGB5
FBN2	NOTCH1	No	-	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

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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
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]

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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
Protein digestion and absorption	hsa04974	6.2	3	COL5A2, COL5A1, COL3A1
ECM-receptor interaction	hsa04512	6.09	3	COL5A2, COL5A1, COL3A1
Amoebiasis	hsa05146	5.82	3	COL5A2, COL5A1, COL3A1
Platelet activation	hsa04611	5.66	3	COL5A2, COL5A1, COL3A1
Focal adhesion	hsa04510	4.92	3	COL5A2, COL5A1, COL3A1
PI3K-Akt signaling pathway	hsa04151	4.21	3	COL5A2, COL5A1, COL3A1

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NET-GE enrichment

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

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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
Syndecan interactions	R-HSA-3000170	8.23	3	COL5A2, COL5A1, COL3A1
Molecules associated with elastic fibres	R-HSA-2129379	7.73	3	FBN1, LTBP2, FBN2
NCAM1 interactions	R-HSA-419037	7.59	3	COL5A2, COL5A1, COL3A1
Elastic fibre formation	R-HSA-1566948	7.49	3	FBN1, LTBP2, FBN2
Assembly of collagen fibrils and other multimeric structures	R-HSA-2022090	7.2	3	COL5A2, COL5A1, COL3A1
Non-integrin membrane-ECM interactions	R-HSA-3000171	7.1	3	COL5A2, COL5A1, COL3A1
Collagen degradation	R-HSA-1442490	7.03	3	COL5A2, COL5A1, COL3A1
Collagen biosynthesis and modifying enzymes	R-HSA-1650814	6.98	3	COL5A2, COL5A1, COL3A1
ECM proteoglycans	R-HSA-3000178	6.75	3	COL5A2, COL5A1, COL3A1
Integrin cell surface interactions	R-HSA-216083	6.57	4	COL5A2, COL5A1, COL3A1, FBN1

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NET-GE enrichment

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

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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
extracellular matrix constituent conferring elasticity (GO:0030023)	7.95	2	FBN1, FBN2
structural molecule activity conferring elasticity (GO:0097493)	7.66	2	FBN1, FBN2
platelet-derived growth factor binding (GO:0048407)	7.34	2	COL3A1, COL5A1
SMAD binding (GO:0046332)	5.45	2	COL5A2, COL3A1
extracellular matrix structural constituent (GO:0005201)	5.37	5	COL5A2, FBN1, COL5A1, COL3A1, FBN2
integrin binding (GO:0005178)	5.07	3	COL3A1, FBN1, COL5A1
growth factor binding (GO:0019838)	4.89	3	COL3A1, LTBP2, COL5A1
heparin binding (GO:0008201)	4.68	2	COL5A1, LTBP2
cell adhesion molecule binding (GO:0050839)	4.5	3	COL3A1, FBN1, COL5A1
glycosaminoglycan binding (GO:0005539)	4.42	2	COL5A1, LTBP2

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NET-GE enrichment

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

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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
sequestering of TGFbeta in extracellular matrix (GO:0035583)	8.63	2	FBN1, FBN2
negative regulation of endodermal cell differentiation (GO:1903225)	8.63	2	COL5A2, COL5A1
maintenance of protein location in extracellular region (GO:0071694)	8.12	2	FBN1, FBN2
regulation of endodermal cell differentiation (GO:1903224)	7.94	2	COL5A2, COL5A1
negative regulation of gastrulation (GO:2000542)	7.78	2	COL5A2, COL5A1
sequestering of extracellular ligand from receptor (GO:0035581)	7.65	2	FBN1, FBN2
extracellular fibril organization (GO:0043206)	7.16	3	COL3A1, LTBP2, COL5A1
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
fibril organization (GO:0097435)	6.78	3	COL3A1, LTBP2, COL5A1

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
sequestering of TGFbeta in extracellular matrix (GO:0035583)	-	8.63	0.002	FBN1, FBN2
negative regulation of endodermal cell differentiation (GO:1903225)	-	8.63	0.0	COL5A2, COL5A1
maintenance of protein location in extracellular region (GO:0071694)	-	8.12	0.013	FBN1, FBN2
regulation of endodermal cell differentiation (GO:1903224)	-	7.94	0.016	COL5A2, COL5A1
elastic fiber assembly (GO:0048251)	NEW	7.78	0.025	FBN1, MYH11
sequestering of extracellular ligand from receptor (GO:0035581)	-	7.65	0.003	FBN1, FBN2
extracellular fibril organization (GO:0043206)	-	7.16	0.0	COL3A1, FBN1, COL5A1
extracellular regulation of signal transduction (GO:1900115)	-	7.02	0.011	FBN1, FBN2
extracellular negative regulation of signal transduction (GO:1900116)	-	7.02	0.011	FBN1, FBN2
fibril organization (GO:0097435)	-	6.78	0.009	COL3A1, FBN1, COL5A1

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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
collagen type V trimer (GO:0005588)	8.7	2	COL5A2, COL5A1
microfibril (GO:0001527)	7.5	2	FBN1, FBN2
fibrillar collagen trimer (GO:0005583)	7.32	3	COL5A2, COL5A1, COL3A1
fibril (GO:0043205)	7.16	2	FBN1, FBN2
basement membrane (GO:0005604)	5.34	2	COL5A1, FBN1
collagen trimer (GO:0005581)	5.21	3	COL5A2, COL5A1, COL3A1
extracellular matrix component (GO:0044420)	4.97	5	COL5A2, FBN1, COL5A1, COL3A1, FBN2
endoplasmic reticulum lumen (GO:0005788)	4.5	3	COL5A2, COL5A1, COL3A1
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

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NET-GE enrichment

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

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