Disease table of VAN MALDERGEM SYNDROME OMIM ID: PS601390

Gene-disease associations table

GeneAssociated with VAN MALDERGEM SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
DCHS1ClinVar, OMIM, HUMSAVARHGNC link11p15.42PS601390, PS157700
FAT4ClinVar, OMIM, HUMSAVARHGNC link4q28.12PS601390, 616006

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
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
DCHS1FAT4No1RYK

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
DCHS1FAT4No-2FJX1, CTNNB1

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
Gene1Gene2Direct interactionMore information
DCHS1FAT4yes, they interactDCHS1 is in heterophilic interaction with FAT4; this interaction affects their respective protein levels. [UniProt]
KEGG pathways annotation: shared terms / NET-GE enrichment (no shared terms)
REACTOME pathways annotation: shared terms / NET-GE enrichment (no shared terms)
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cation binding (GO:0043169) 1.42DCHS1, FAT4
metal ion binding (GO:0046872) 1.412DCHS1, FAT4
binding (GO:0005488) 0.182DCHS1, FAT4
calcium ion binding (GO:0005509) 3.172DCHS1, FAT4
ion binding (GO:0043167) 1.362DCHS1, FAT4

NET-GE enrichment

Term New enriched termICP valueGenes
calcium ion binding (GO:0005509) -3.170.014DCHS1, FAT4
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
digestive tract development (GO:0048565) 5.492DCHS1, FAT4
ossification involved in bone maturation (GO:0043931) 7.782DCHS1, FAT4
cell differentiation (GO:0030154) 2.142DCHS1, FAT4
branching morphogenesis of an epithelial tube (GO:0048754) 4.932DCHS1, FAT4
heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0007157) 5.882DCHS1, FAT4
cell adhesion (GO:0007155) 2.822DCHS1, FAT4
morphogenesis of a branching structure (GO:0001763) 4.712DCHS1, FAT4
signal transduction (GO:0007165) 1.282DCHS1, FAT4
intracellular signal transduction (GO:0035556) 2.392DCHS1, FAT4
anatomical structure morphogenesis (GO:0009653) 2.532DCHS1, FAT4
hippo signaling (GO:0035329) 6.432DCHS1, FAT4
single-organism process (GO:0044699) 0.482DCHS1, FAT4
morphogenesis of an epithelium (GO:0002009) 4.082DCHS1, FAT4
cellular developmental process (GO:0048869) 1.822DCHS1, FAT4
kidney development (GO:0001822) 4.792DCHS1, FAT4
regulation of biological process (GO:0050789) 0.452DCHS1, FAT4
animal organ development (GO:0048513) 2.532DCHS1, FAT4
biological regulation (GO:0065007) 0.392DCHS1, FAT4
tissue morphogenesis (GO:0048729) 3.872DCHS1, FAT4
biological adhesion (GO:0022610) 2.812DCHS1, FAT4
developmental process (GO:0032502) 1.362DCHS1, FAT4
organ morphogenesis (GO:0009887) 3.552DCHS1, FAT4
multicellular organismal process (GO:0032501) 1.452DCHS1, FAT4
tube morphogenesis (GO:0035239) 4.352DCHS1, FAT4
morphogenesis of a branching epithelium (GO:0061138) 4.772DCHS1, FAT4
cell-cell adhesion (GO:0098609) 3.342DCHS1, FAT4
cellular process (GO:0009987) 0.262DCHS1, FAT4
regulation of cellular process (GO:0050794) 0.52DCHS1, FAT4
single-organism developmental process (GO:0044767) 1.492DCHS1, FAT4
single-organism cellular process (GO:0044763) 0.652DCHS1, FAT4
branching involved in ureteric bud morphogenesis (GO:0001658) 5.972DCHS1, FAT4
neurogenesis (GO:0022008) 5.452DCHS1, FAT4
homophilic cell adhesion via plasma membrane adhesion molecules (GO:0007156) 4.682DCHS1, FAT4
cell-cell adhesion via plasma-membrane adhesion molecules (GO:0098742) 4.392DCHS1, FAT4
heart morphogenesis (GO:0003007) 5.842DCHS1, FAT4
single-multicellular organism process (GO:0044707) 1.782DCHS1, FAT4
anatomical structure development (GO:0048856) 1.582DCHS1, FAT4
tube development (GO:0035295) 4.412DCHS1, FAT4
ossification (GO:0001503) 4.862DCHS1, FAT4

NET-GE enrichment

Term New enriched termICP valueGenes
morphogenesis of an epithelium (GO:0002009) -4.080.016DCHS1, FAT4
organ morphogenesis (GO:0009887) -3.550.03DCHS1, FAT4
digestive tract development (GO:0048565) -5.490.0DCHS1, FAT4
heart morphogenesis (GO:0003007) -5.840.002DCHS1, FAT4
morphogenesis of a branching epithelium (GO:0061138) -4.770.005DCHS1, FAT4
cell-cell adhesion (GO:0098609) -3.340.007DCHS1, FAT4
ossification involved in bone maturation (GO:0043931) -7.780.0DCHS1, FAT4
neurogenesis (GO:0022008) -5.450.0DCHS1, FAT4
branching morphogenesis of an epithelial tube (GO:0048754) -4.930.027DCHS1, FAT4
tube development (GO:0035295) -4.410.005DCHS1, FAT4
ossification (GO:0001503) -4.860.003DCHS1, FAT4
morphogenesis of a branching structure (GO:0001763) -4.710.044DCHS1, FAT4
tissue morphogenesis (GO:0048729) -3.870.023DCHS1, FAT4
branching involved in ureteric bud morphogenesis (GO:0001658) -5.970.0DCHS1, FAT4
hippo signaling (GO:0035329) -6.430.0DCHS1, FAT4
homophilic cell adhesion (GO:0007156) -4.680.004DCHS1, FAT4
heterophilic cell-cell adhesion (GO:0007157) -5.880.001DCHS1, FAT4
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
apical part of cell (GO:0045177) 5.342DCHS1, FAT4
integral component of membrane (GO:0016021) 1.142DCHS1, FAT4
membrane (GO:0016020) 0.682DCHS1, FAT4
cell part (GO:0044464) 0.112DCHS1, FAT4
intracellular (GO:0005622) 2.372DCHS1, FAT4
plasma membrane (GO:0005886) 1.392DCHS1, FAT4
membrane part (GO:0044425) 0.952DCHS1, FAT4
intrinsic component of membrane (GO:0031224) 1.132DCHS1, FAT4

NET-GE enrichment

Term New enriched termICP valueGenes
apical part of cell (GO:0045177) -5.340.0DCHS1, FAT4