Disease table of LYMPHEDEMA, HEREDITARY OMIM ID: PS153100

Gene-disease associations table

GeneAssociated with LYMPHEDEMA, HEREDITARY inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
FLT4ClinVar, OMIM, HUMSAVARHGNC link5q35.32602089, PS153100
GJC2ClinVar, OMIM, HUMSAVARHGNC link1q42.133PS153100, PS312080, PS303350
VEGFCClinVar, OMIMHGNC link4q34.31PS153100

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
FLT4YES2NFKB1, RELA0
GJC2YES1SOX100
VEGFCYES2SIX1, RUNX20
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
FLT4VEGFCYes1VEGFC

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
FLT4VEGFCYesactivation, binding18FN1, VEGFA, PGF, ITGB1, CRK, FIGF, MAP2K4, PIK3CA, PIK3R1, SOS1, IGF1, KDR, EGF, FGF2, VEGFB, GRB2, FLT1, NRP2

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

Interactions from CORUM
Gene1Gene2Direct InteractionComplexesNumber of shared interactorsShared genes in interaction
FLT4VEGFCNo-1NRP2

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

Interactions from CENSUS
Interactions from PDB
Gene1Gene2InteractionNumber of common interactorsCommon genes in interaction
FLT4VEGFCYes2VEGFC, FLT4

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

Interactions from manually curated literature
Gene1Gene2Direct interactionMore information
FLT4VEGFCyes, they interact but maybe not in complexTyrosine-protein kinase FLT4 acts as a cell-surface receptor for VEGFC and VEGFD, that make it dimerize. [UniProt]
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Rap1 signaling pathwayhsa040154.972VEGFC, FLT4
Ras signaling pathwayhsa040144.92VEGFC, FLT4
Cytokine-cytokine receptor interactionhsa040604.672VEGFC, FLT4
Focal adhesionhsa045104.922VEGFC, FLT4
PI3K-Akt signaling pathwayhsa041514.212VEGFC, FLT4

NET-GE enrichment

Term New enriched termICP valueGenes
Rap1 signaling pathway (hsa04015) -4.970.015VEGFC, FLT4
Ras signaling pathway (hsa04014) -4.90.017VEGFC, FLT4
Focal adhesion (hsa04510) -4.920.016VEGFC, FLT4
Cytokine-cytokine receptor interaction (hsa04060) -4.670.023VEGFC, FLT4
PI3K-Akt signaling pathway (hsa04151) -4.210.044VEGFC, FLT4
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Signaling by VEGFR-HSA-1941384.662VEGFC, FLT4
VEGF binds to VEGFR leading to receptor dimerizationR-HSA-1953999.982VEGFC, FLT4
VEGF ligand-receptor interactionsR-HSA-1943139.982VEGFC, FLT4
Signal TransductionR-HSA-1625821.782VEGFC, FLT4

NET-GE enrichment

Term New enriched termICP valueGenes
VEGF binds to VEGFR leading to receptor dimerization (R-HSA-195399) -9.980.0VEGFC, FLT4
VEGF ligand-receptor interactions (R-HSA-194313) -9.980.0VEGFC, FLT4
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.182VEGFC, FLT4
protein binding (GO:0005515) 0.462VEGFC, FLT4
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
response to chemical (GO:0042221) 1.983VEGFC, GJC2, FLT4
response to stimulus (GO:0050896) 1.223VEGFC, GJC2, FLT4
cellular process (GO:0009987) 0.263VEGFC, GJC2, FLT4
single-organism process (GO:0044699) 0.483VEGFC, GJC2, FLT4
positive regulation of cell proliferation (GO:0008284) 3.012VEGFC, FLT4
anatomical structure development (GO:0048856) 1.582VEGFC, FLT4
regulation of phosphate metabolic process (GO:0019220) 2.352VEGFC, FLT4
regulation of primary metabolic process (GO:0080090) 1.082VEGFC, FLT4
regulation of metabolic process (GO:0019222) 1.022VEGFC, FLT4
regulation of anatomical structure morphogenesis (GO:0022603) 2.792VEGFC, FLT4
positive regulation of locomotion (GO:0040017) 3.712VEGFC, FLT4
positive regulation of cellular metabolic process (GO:0031325) 1.812VEGFC, FLT4
positive regulation of response to stimulus (GO:0048584) 2.182VEGFC, FLT4
regulation of response to stimulus (GO:0048583) 1.542VEGFC, FLT4
regulation of phosphorus metabolic process (GO:0051174) 2.352VEGFC, FLT4
signal transduction (GO:0007165) 1.282VEGFC, FLT4
cell surface receptor signaling pathway (GO:0007166) 2.092VEGFC, FLT4
enzyme linked receptor protein signaling pathway (GO:0007167) 3.242VEGFC, FLT4
transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) 3.542VEGFC, FLT4
regulation of localization (GO:0032879) 1.942VEGFC, FLT4
regulation of cell communication (GO:0010646) 1.732VEGFC, FLT4
regulation of biological process (GO:0050789) 0.452VEGFC, FLT4
positive regulation of metabolic process (GO:0009893) 1.742VEGFC, FLT4
anatomical structure morphogenesis (GO:0009653) 2.532VEGFC, FLT4
positive regulation of macromolecule metabolic process (GO:0010604) 1.812VEGFC, FLT4
regulation of signal transduction (GO:0009966) 1.842VEGFC, FLT4
positive regulation of multicellular organismal process (GO:0051240) 2.492VEGFC, FLT4
regulation of protein metabolic process (GO:0051246) 1.932VEGFC, FLT4
positive regulation of protein metabolic process (GO:0051247) 2.432VEGFC, FLT4
regulation of cellular component movement (GO:0051270) 3.082VEGFC, FLT4
regulation of signaling (GO:0023051) 1.722VEGFC, FLT4
regulation of developmental process (GO:0050793) 2.12VEGFC, FLT4
biological regulation (GO:0065007) 0.392VEGFC, FLT4
regulation of protein modification process (GO:0031399) 2.322VEGFC, FLT4
positive regulation of biological process (GO:0048518) 1.22VEGFC, FLT4
positive regulation of cellular protein metabolic process (GO:0032270) 2.492VEGFC, FLT4
anatomical structure formation involved in morphogenesis (GO:0048646) 3.012VEGFC, FLT4
regulation of cell proliferation (GO:0042127) 2.412VEGFC, FLT4
positive regulation of epithelial cell migration (GO:0010634) 5.092VEGFC, FLT4
positive regulation of cell migration (GO:0030335) 3.772VEGFC, FLT4
regulation of cell migration (GO:0030334) 3.232VEGFC, FLT4
positive regulation of phosphate metabolic process (GO:0045937) 2.782VEGFC, FLT4
regulation of macromolecule metabolic process (GO:0060255) 1.082VEGFC, FLT4
regulation of cellular metabolic process (GO:0031323) 1.072VEGFC, FLT4
transport (GO:0006810) 1.512VEGFC, GJC2
angiogenesis (GO:0001525) 4.152VEGFC, FLT4
positive regulation of endothelial cell migration (GO:0010595) 5.522VEGFC, FLT4
regulation of cellular process (GO:0050794) 0.52VEGFC, FLT4
single-organism developmental process (GO:0044767) 1.492VEGFC, FLT4
regulation of cellular protein metabolic process (GO:0032268) 1.992VEGFC, FLT4
single-organism cellular process (GO:0044763) 0.652VEGFC, GJC2
regulation of multicellular organismal process (GO:0051239) 1.872VEGFC, FLT4
negative regulation of biological process (GO:0048519) 1.332VEGFC, FLT4
vascular endothelial growth factor receptor signaling pathway (GO:0048010) 5.442VEGFC, FLT4
establishment of localization (GO:0051234) 1.482VEGFC, GJC2
localization (GO:0051179) 1.42VEGFC, GJC2
regulation of endothelial cell migration (GO:0010594) 4.992VEGFC, FLT4
regulation of phosphorylation (GO:0042325) 2.52VEGFC, FLT4
positive regulation of cellular component movement (GO:0051272) 3.712VEGFC, FLT4
positive regulation of phosphorylation (GO:0042327) 2.92VEGFC, FLT4
regulation of locomotion (GO:0040012) 3.122VEGFC, FLT4
regulation of epithelial cell proliferation (GO:0050678) 4.062VEGFC, FLT4
positive regulation of epithelial cell proliferation (GO:0050679) 4.672VEGFC, FLT4
regulation of epithelial cell migration (GO:0010632) 4.622VEGFC, FLT4
positive regulation of protein modification process (GO:0031401) 2.72VEGFC, FLT4
positive regulation of protein phosphorylation (GO:0001934) 2.952VEGFC, FLT4
developmental process (GO:0032502) 1.362VEGFC, FLT4
regulation of cell motility (GO:2000145) 3.162VEGFC, FLT4
positive regulation of cell motility (GO:2000147) 3.742VEGFC, FLT4
regulation of protein phosphorylation (GO:0001932) 2.572VEGFC, FLT4
positive regulation of phosphorus metabolic process (GO:0010562) 2.782VEGFC, FLT4
negative regulation of cellular process (GO:0048523) 1.412VEGFC, FLT4
positive regulation of cellular process (GO:0048522) 1.32VEGFC, FLT4

NET-GE enrichment

Term New enriched termICP valueGenes
positive regulation of epithelial cell migration (GO:0010634) -5.090.013VEGFC, FLT4
positive regulation of endothelial cell migration (GO:0010595) -5.520.006VEGFC, FLT4
positive regulation of epithelial cell proliferation (GO:0050679) -4.670.044VEGFC, FLT4
regulation of epithelial cell migration (GO:0010632) -4.620.034VEGFC, FLT4
regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947) NEW6.430.019VEGFC, FLT4
lymphangiogenesis (GO:0001946) NEW7.330.003VEGFC, FLT4
vascular endothelial growth factor receptor signaling pathway (GO:0048010) -5.440.01VEGFC, FLT4
positive chemotaxis (GO:0050918) NEW6.170.038VEGFC, FLT4
regulation of endothelial cell migration (GO:0010594) -4.990.017VEGFC, FLT4
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
membrane (GO:0016020) 0.683VEGFC, GJC2, FLT4
cell part (GO:0044464) 0.113VEGFC, GJC2, FLT4
protein complex (GO:0043234) 1.512GJC2, FLT4
macromolecular complex (GO:0032991) 1.352GJC2, FLT4
integral component of membrane (GO:0016021) 1.142GJC2, FLT4
extracellular region (GO:0005576) 2.182VEGFC, FLT4
plasma membrane (GO:0005886) 1.392GJC2, FLT4
intracellular part (GO:0044424) 0.282VEGFC, FLT4
membrane part (GO:0044425) 0.952GJC2, FLT4
plasma membrane part (GO:0044459) 1.952GJC2, FLT4
intrinsic component of membrane (GO:0031224) 1.132GJC2, FLT4