Disease table of 3MC SYNDROME OMIM ID: PS257920

Gene-disease associations table

GeneAssociated with 3MC SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
MASP1ClinVar, OMIMHGNC link3q27.31PS257920
COLEC11ClinVar, OMIM, HUMSAVARHGNC link2p25.31PS257920

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
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
MASP1COLEC11Yesbinding0

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 termICP valueGenes
Phagosome (hsa04145) NEW5.270.028MASP1, COLEC11
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Scavenging by Class A ReceptorsR-HSA-30004808.732MASP1, COLEC11
Binding and Uptake of Ligands by Scavenger ReceptorsR-HSA-21737825.382MASP1, COLEC11
Vesicle-mediated transportR-HSA-56536564.332MASP1, COLEC11

NET-GE enrichment

Term New enriched termICP valueGenes
Scavenging by Class A Receptors (R-HSA-3000480) -8.730.0MASP1, COLEC11
Vesicle-mediated transport (R-HSA-5653656) -4.330.027MASP1, COLEC11
Binding and Uptake of Ligands by Scavenger Receptors (R-HSA-2173782) -5.380.009MASP1, COLEC11
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
serine-type endopeptidase activity (GO:0004252) 4.42MASP1, COLEC11
endopeptidase activity (GO:0004175) 3.632MASP1, COLEC11
hydrolase activity (GO:0016787) 1.92MASP1, COLEC11
serine hydrolase activity (GO:0017171) 4.262MASP1, COLEC11
catalytic activity (GO:0003824) 1.052MASP1, COLEC11
peptidase activity, acting on L-amino acid peptides (GO:0070011) 3.262MASP1, COLEC11
binding (GO:0005488) 0.182MASP1, COLEC11
peptidase activity (GO:0008233) 3.232MASP1, COLEC11
serine-type peptidase activity (GO:0008236) 4.272MASP1, COLEC11
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
positive regulation of response to stimulus (GO:0048584) 2.182MASP1, COLEC11
regulation of response to stimulus (GO:0048583) 1.542MASP1, COLEC11
proteolysis (GO:0006508) 2.732MASP1, COLEC11
regulation of biological process (GO:0050789) 0.452MASP1, COLEC11
humoral immune response (GO:0006959) 4.592MASP1, COLEC11
protein activation cascade (GO:0072376) 5.212MASP1, COLEC11
organic substance metabolic process (GO:0071704) 0.632MASP1, COLEC11
positive regulation of immune system process (GO:0002684) 2.962MASP1, COLEC11
regulation of immune system process (GO:0002682) 2.52MASP1, COLEC11
positive regulation of biological process (GO:0048518) 1.22MASP1, COLEC11
biological regulation (GO:0065007) 0.392MASP1, COLEC11
transport (GO:0006810) 1.512MASP1, COLEC11
complement activation (GO:0006956) 5.492MASP1, COLEC11
metabolic process (GO:0008152) 0.582MASP1, COLEC11
immune response (GO:0006955) 2.862MASP1, COLEC11
establishment of localization (GO:0051234) 1.482MASP1, COLEC11
localization (GO:0051179) 1.42MASP1, COLEC11
primary metabolic process (GO:0044238) 0.692MASP1, COLEC11
regulation of immune response (GO:0050776) 2.982MASP1, COLEC11
endocytosis (GO:0006897) 3.692MASP1, COLEC11
vesicle-mediated transport (GO:0016192) 2.722MASP1, COLEC11
protein metabolic process (GO:0019538) 1.452MASP1, COLEC11
response to stimulus (GO:0050896) 1.222MASP1, COLEC11
receptor-mediated endocytosis (GO:0006898) 4.312MASP1, COLEC11
positive regulation of immune response (GO:0050778) 3.42MASP1, COLEC11
macromolecule metabolic process (GO:0043170) 0.832MASP1, COLEC11
immune system process (GO:0002376) 2.292MASP1, COLEC11
activation of immune response (GO:0002253) 3.672MASP1, COLEC11
immune effector process (GO:0002252) 3.582MASP1, COLEC11
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
extracellular region (GO:0005576) 2.182MASP1, COLEC11

NET-GE enrichment

Term New enriched termICP valueGenes
extracellular region (GO:0005576) -2.180.049MASP1, COLEC11
collagen trimer (GO:0005581) NEW5.210.003MASP1, COLEC11