Disease table of INFANTILE MYOFIBROMATOSIS OMIM ID: PS228550

Gene-disease associations table

GeneAssociated with INFANTILE MYOFIBROMATOSIS inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
PDGFRBClinVar, OMIM, HUMSAVARHGNC link5q325PS228550, 601812, PS213600, 616592, 131440
NOTCH3ClinVar, OMIM, HUMSAVARHGNC link19p13.123PS228550, 125310, 130720

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
TFassociated to this disease# regulated genesRegulated genes# regulated genes associated with this diseaseRegulated genes associated with this disease
NOTCH3YES3HES1, ASPH, APOD0
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
PDGFRBYES2ZNF24, TP530
NOTCH3YES1MSX10
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
PDGFRBNOTCH3No1NTRK1

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

Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
PDGFRBNOTCH3No-5UBC, ANGPT2, WNT7B, ETV6, EGFR

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: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
MicroRNAs in cancerhsa052065.382NOTCH3, PDGFRB

NET-GE enrichment

Term New enriched termICP valueGenes
MicroRNAs in cancer (hsa05206) -5.380.02NOTCH3, PDGFRB
REACTOME pathways annotation: shared terms (no NET-GE enrichment)

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Signal TransductionR-HSA-1625821.782NOTCH3, PDGFRB
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
receptor activity (GO:0004872) 2.322NOTCH3, PDGFRB
molecular transducer activity (GO:0060089) 2.322NOTCH3, PDGFRB
binding (GO:0005488) 0.182NOTCH3, PDGFRB
enzyme binding (GO:0019899) 2.272NOTCH3, PDGFRB
protein binding (GO:0005515) 0.462NOTCH3, PDGFRB
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
regulation of cell proliferation (GO:0042127) 2.412NOTCH3, PDGFRB
positive regulation of metabolic process (GO:0009893) 1.742NOTCH3, PDGFRB
regulation of metabolic process (GO:0019222) 1.022NOTCH3, PDGFRB
positive regulation of biosynthetic process (GO:0009891) 2.292NOTCH3, PDGFRB
regulation of cellular biosynthetic process (GO:0031326) 1.382NOTCH3, PDGFRB
positive regulation of cellular metabolic process (GO:0031325) 1.812NOTCH3, PDGFRB
regulation of cellular metabolic process (GO:0031323) 1.072NOTCH3, PDGFRB
metabolic process (GO:0008152) 0.582NOTCH3, PDGFRB
nitrogen compound metabolic process (GO:0006807) 1.132NOTCH3, PDGFRB
signal transduction (GO:0007165) 1.282NOTCH3, PDGFRB
cell surface receptor signaling pathway (GO:0007166) 2.092NOTCH3, PDGFRB
angiogenesis (GO:0001525) 4.152NOTCH3, PDGFRB
multicellular organism development (GO:0007275) 2.542NOTCH3, PDGFRB
single-organism process (GO:0044699) 0.482NOTCH3, PDGFRB
regulation of primary metabolic process (GO:0080090) 1.082NOTCH3, PDGFRB
cellular protein metabolic process (GO:0044267) 1.632NOTCH3, PDGFRB
anatomical structure morphogenesis (GO:0009653) 2.532NOTCH3, PDGFRB
positive regulation of macromolecule metabolic process (GO:0010604) 1.812NOTCH3, PDGFRB
cellular macromolecule metabolic process (GO:0044260) 0.932NOTCH3, PDGFRB
organic substance metabolic process (GO:0071704) 0.632NOTCH3, PDGFRB
artery morphogenesis (GO:0048844) 5.882NOTCH3, PDGFRB
positive regulation of cellular biosynthetic process (GO:0031328) 2.32NOTCH3, PDGFRB
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.462NOTCH3, PDGFRB
regulation of biological process (GO:0050789) 0.452NOTCH3, PDGFRB
regulation of developmental process (GO:0050793) 2.12NOTCH3, PDGFRB
blood vessel morphogenesis (GO:0048514) 5.322NOTCH3, PDGFRB
positive regulation of biological process (GO:0048518) 1.22NOTCH3, PDGFRB
negative regulation of biological process (GO:0048519) 1.332NOTCH3, PDGFRB
anatomical structure formation involved in morphogenesis (GO:0048646) 3.012NOTCH3, PDGFRB
positive regulation of cell proliferation (GO:0008284) 3.012NOTCH3, PDGFRB
multicellular organismal process (GO:0032501) 1.452NOTCH3, PDGFRB
positive regulation of nucleobase-containing compound metabolic process (GO:0045935) 2.352NOTCH3, PDGFRB
regulation of smooth muscle cell proliferation (GO:0048660) 5.12NOTCH3, PDGFRB
organic substance biosynthetic process (GO:1901576) 1.342NOTCH3, PDGFRB
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.432NOTCH3, PDGFRB
regulation of macromolecule metabolic process (GO:0060255) 1.082NOTCH3, PDGFRB
biological regulation (GO:0065007) 0.392NOTCH3, PDGFRB
regulation of biosynthetic process (GO:0009889) 1.372NOTCH3, PDGFRB
regulation of cellular process (GO:0050794) 0.52NOTCH3, PDGFRB
single-organism developmental process (GO:0044767) 1.492NOTCH3, PDGFRB
biosynthetic process (GO:0009058) 1.322NOTCH3, PDGFRB
macromolecule biosynthetic process (GO:0009059) 1.612NOTCH3, PDGFRB
single-organism cellular process (GO:0044763) 0.652NOTCH3, PDGFRB
regulation of nitrogen compound metabolic process (GO:0051171) 1.362NOTCH3, PDGFRB
regulation of multicellular organismal process (GO:0051239) 1.872NOTCH3, PDGFRB
positive regulation of nitrogen compound metabolic process (GO:0051173) 2.292NOTCH3, PDGFRB
positive regulation of smooth muscle cell proliferation (GO:0048661) 5.62NOTCH3, PDGFRB
primary metabolic process (GO:0044238) 0.692NOTCH3, PDGFRB
glomerular capillary formation (GO:0072104) 8.122NOTCH3, PDGFRB
single-multicellular organism process (GO:0044707) 1.782NOTCH3, PDGFRB
protein metabolic process (GO:0019538) 1.452NOTCH3, PDGFRB
anatomical structure development (GO:0048856) 1.582NOTCH3, PDGFRB
cellular metabolic process (GO:0044237) 0.692NOTCH3, PDGFRB
macromolecule metabolic process (GO:0043170) 0.832NOTCH3, PDGFRB
developmental process (GO:0032502) 1.362NOTCH3, PDGFRB
positive regulation of macromolecule biosynthetic process (GO:0010557) 2.392NOTCH3, PDGFRB
regulation of macromolecule biosynthetic process (GO:0010556) 1.432NOTCH3, PDGFRB
regulation of multicellular organismal development (GO:2000026) 2.312NOTCH3, PDGFRB
cellular process (GO:0009987) 0.262NOTCH3, PDGFRB
negative regulation of cellular process (GO:0048523) 1.412NOTCH3, PDGFRB
positive regulation of cellular process (GO:0048522) 1.32NOTCH3, PDGFRB

NET-GE enrichment

Term New enriched termICP valueGenes
glomerular capillary formation (GO:0072104) -8.120.0NOTCH3, PDGFRB
regulation of smooth muscle cell proliferation (GO:0048660) -5.10.007NOTCH3, PDGFRB
positive regulation of smooth muscle cell proliferation (GO:0048661) -5.60.002NOTCH3, PDGFRB
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
cytoplasm (GO:0005737) 1.012NOTCH3, PDGFRB
intracellular membrane-bounded organelle (GO:0043231) 0.62NOTCH3, PDGFRB
integral component of membrane (GO:0016021) 1.142NOTCH3, PDGFRB
membrane (GO:0016020) 0.682NOTCH3, PDGFRB
cell part (GO:0044464) 0.112NOTCH3, PDGFRB
cytoplasmic part (GO:0044444) 0.822NOTCH3, PDGFRB
intracellular organelle part (GO:0044446) 0.812NOTCH3, PDGFRB
intracellular organelle (GO:0043229) 0.512NOTCH3, PDGFRB
organelle part (GO:0044422) 0.792NOTCH3, PDGFRB
plasma membrane (GO:0005886) 1.392NOTCH3, PDGFRB
intracellular part (GO:0044424) 0.282NOTCH3, PDGFRB
membrane part (GO:0044425) 0.952NOTCH3, PDGFRB
nucleus (GO:0005634) 1.072NOTCH3, PDGFRB
membrane-bounded organelle (GO:0043227) 0.472NOTCH3, PDGFRB
organelle (GO:0043226) 0.42NOTCH3, PDGFRB
intrinsic component of membrane (GO:0031224) 1.132NOTCH3, PDGFRB