Disease table of COSTELLO SYNDROME OMIM ID: 218040

Gene-disease associations table

GeneAssociated with COSTELLO SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
HRASClinVar, OMIM, HUMSAVARHGNC link11p15.56218040, 137550, 185500, 109800, 163200, 162900
TNNT2ClinVarHGNC link1q32.15PS192600, PS604169, 218040, PS115200, PS115210

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
Interactions from BIOGRID - physical
Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction

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

NET-GE enrichment

Term New enriched termICP valueGenes
Muscle contraction (R-HSA-397014) NEW6.960.014HRAS, TNNT2
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
hydrolase activity (GO:0016787) 1.92HRAS, TNNT2
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818) 3.032HRAS, TNNT2
pyrophosphatase activity (GO:0016462) 3.042HRAS, TNNT2
hydrolase activity, acting on acid anhydrides (GO:0016817) 3.032HRAS, TNNT2
nucleoside-triphosphatase activity (GO:0017111) 3.092HRAS, TNNT2
catalytic activity (GO:0003824) 1.052HRAS, TNNT2
binding (GO:0005488) 0.182HRAS, TNNT2
protein binding (GO:0005515) 0.462HRAS, TNNT2

NET-GE enrichment

Term New enriched termICP valueGenes
structural constituent of cytoskeleton (GO:0005200) NEW5.120.02HRAS, TNNT2
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cellular component assembly (GO:0022607) 2.142HRAS, TNNT2
macromolecular complex subunit organization (GO:0043933) 2.142HRAS, TNNT2
movement of cell or subcellular component (GO:0006928) 2.612HRAS, TNNT2
regulation of actin filament-based process (GO:0032970) 3.972HRAS, TNNT2
anatomical structure morphogenesis (GO:0009653) 2.532HRAS, TNNT2
negative regulation of catalytic activity (GO:0043086) 3.02HRAS, TNNT2
single-organism process (GO:0044699) 0.482HRAS, TNNT2
negative regulation of hydrolase activity (GO:0051346) 3.742HRAS, TNNT2
positive regulation of hydrolase activity (GO:0051345) 2.912HRAS, TNNT2
cellular component organization or biogenesis (GO:0071840) 1.222HRAS, TNNT2
cellular component organization (GO:0016043) 1.242HRAS, TNNT2
regulation of biological process (GO:0050789) 0.452HRAS, TNNT2
macromolecular complex assembly (GO:0065003) 2.552HRAS, TNNT2
biological regulation (GO:0065007) 0.392HRAS, TNNT2
positive regulation of catalytic activity (GO:0043085) 2.42HRAS, TNNT2
positive regulation of molecular function (GO:0044093) 2.232HRAS, TNNT2
negative regulation of molecular function (GO:0044092) 2.742HRAS, TNNT2
regulation of molecular function (GO:0065009) 1.782HRAS, TNNT2
regulation of biological quality (GO:0065008) 1.682HRAS, TNNT2
developmental process (GO:0032502) 1.362HRAS, TNNT2
protein oligomerization (GO:0051259) 3.712HRAS, TNNT2
cellular process (GO:0009987) 0.262HRAS, TNNT2
regulation of catalytic activity (GO:0050790) 1.972HRAS, TNNT2
protein heterooligomerization (GO:0051291) 5.222HRAS, TNNT2
regulation of cellular process (GO:0050794) 0.52HRAS, TNNT2
single-organism developmental process (GO:0044767) 1.492HRAS, TNNT2
single-organism cellular process (GO:0044763) 0.652HRAS, TNNT2
regulation of multicellular organismal process (GO:0051239) 1.872HRAS, TNNT2
regulation of localization (GO:0032879) 1.942HRAS, TNNT2
regulation of hydrolase activity (GO:0051336) 2.532HRAS, TNNT2
protein complex assembly (GO:0006461) 2.782HRAS, TNNT2
regulation of cellular component movement (GO:0051270) 3.082HRAS, TNNT2
protein complex subunit organization (GO:0071822) 2.62HRAS, TNNT2
response to stimulus (GO:0050896) 1.222HRAS, TNNT2

NET-GE enrichment

Term New enriched termICP valueGenes
positive regulation of ATPase activity (GO:0032781) NEW5.990.013HRAS, TNNT2
regulation of ATPase activity (GO:0043462) NEW5.590.029HRAS, TNNT2
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
cytosol (GO:0005829) 1.682HRAS, TNNT2
cell part (GO:0044464) 0.112HRAS, TNNT2
cytoplasmic part (GO:0044444) 0.822HRAS, TNNT2
intracellular organelle part (GO:0044446) 0.812HRAS, TNNT2
intracellular organelle (GO:0043229) 0.512HRAS, TNNT2
intracellular part (GO:0044424) 0.282HRAS, TNNT2
organelle (GO:0043226) 0.42HRAS, TNNT2
organelle part (GO:0044422) 0.792HRAS, TNNT2