Disease table of 3MC SYNDROME OMIM ID: PS257920

Gene-disease associations table

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Gene	Associated with 3MC SYNDROME in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
COLEC11	ClinVar, OMIM, HUMSAVAR	HGNC link	2p25.3	1	PS257920
MASP1	ClinVar, OMIM	HGNC link	3q27.3	1	PS257920

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Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD

Cytogenetic band analysis

Transcription Factors (TF) annotation from TRRUST

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
MASP1	COLEC11	Yes	binding	0

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

KEGG pathways annotation: NET-GE enrichment (no shared terms)

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
Phagosome (hsa04145)	NEW	5.27	0.028	MASP1, COLEC11

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
Scavenging by Class A Receptors	R-HSA-3000480	8.73	2	MASP1, COLEC11
Binding and Uptake of Ligands by Scavenger Receptors	R-HSA-2173782	5.38	2	MASP1, COLEC11
Vesicle-mediated transport	R-HSA-5653656	4.33	2	MASP1, COLEC11

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
Scavenging by Class A Receptors (R-HSA-3000480)	-	8.73	0.0	MASP1, COLEC11
Binding and Uptake of Ligands by Scavenger Receptors (R-HSA-2173782)	-	5.38	0.009	MASP1, COLEC11
Vesicle-mediated transport (R-HSA-5653656)	-	4.33	0.027	MASP1, COLEC11

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

Shared terms

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GO	IC	Number of genes with the same GO	Genes
serine-type endopeptidase activity (GO:0004252)	4.4	2	MASP1, COLEC11
serine-type peptidase activity (GO:0008236)	4.27	2	MASP1, COLEC11
serine hydrolase activity (GO:0017171)	4.26	2	MASP1, COLEC11
endopeptidase activity (GO:0004175)	3.63	2	MASP1, COLEC11
peptidase activity, acting on L-amino acid peptides (GO:0070011)	3.26	2	MASP1, COLEC11
peptidase activity (GO:0008233)	3.23	2	MASP1, COLEC11
hydrolase activity (GO:0016787)	1.9	2	MASP1, COLEC11
catalytic activity (GO:0003824)	1.05	2	MASP1, COLEC11
binding (GO:0005488)	0.18	2	MASP1, COLEC11

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GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

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GO	IC	Number of genes with the same GO	Genes
complement activation (GO:0006956)	5.49	2	MASP1, COLEC11
protein activation cascade (GO:0072376)	5.21	2	MASP1, COLEC11
humoral immune response (GO:0006959)	4.59	2	MASP1, COLEC11
receptor-mediated endocytosis (GO:0006898)	4.31	2	MASP1, COLEC11
endocytosis (GO:0006897)	3.69	2	MASP1, COLEC11
activation of immune response (GO:0002253)	3.67	2	MASP1, COLEC11
immune effector process (GO:0002252)	3.58	2	MASP1, COLEC11
positive regulation of immune response (GO:0050778)	3.4	2	MASP1, COLEC11
regulation of immune response (GO:0050776)	2.98	2	MASP1, COLEC11
positive regulation of immune system process (GO:0002684)	2.96	2	MASP1, COLEC11

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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	2	MASP1, COLEC11

NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
collagen trimer (GO:0005581)	NEW	5.21	0.003	MASP1, COLEC11
extracellular region (GO:0005576)	-	2.18	0.049	MASP1, COLEC11

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