Disease table of SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL OMIM ID: PS156610

Gene-disease associations table

GeneAssociated with SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
TUBBClinVar, OMIMHGNC link6p21.332PS614039, PS156610
MAPRE2ClinVar, OMIMHGNC link18q12.11PS156610

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
TUBBMAPRE2No7TRAF3IP1, HUWE1, AURKA, SMC3, MAPRE1, AURKB, APP

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

Interactions from BIOGRID - genetic
Interactions from STRING
Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
Gene1Gene2Direct interactionMore information
MAPRE2TUBBmaybeMAPRE2 involved in microtubules associations, TUBB is the tubuline making microtubules. [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
binding (GO:0005488) 0.182MAPRE2, TUBB
protein binding (GO:0005515) 0.462MAPRE2, TUBB

NET-GE enrichment

Term New enriched termICP valueGenes
microtubule binding (GO:0008017) NEW4.420.048MAPRE2, TUBB
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
organelle organization (GO:0006996) 2.022MAPRE2, TUBB
cellular process (GO:0009987) 0.262MAPRE2, TUBB
mitotic cell cycle process (GO:1903047) 3.122MAPRE2, TUBB
cell cycle process (GO:0022402) 2.752MAPRE2, TUBB
single-organism process (GO:0044699) 0.482MAPRE2, TUBB
cell division (GO:0051301) 3.682MAPRE2, TUBB
single-organism cellular process (GO:0044763) 0.652MAPRE2, TUBB
cellular component organization or biogenesis (GO:0071840) 1.222MAPRE2, TUBB
cellular component organization (GO:0016043) 1.242MAPRE2, TUBB

NET-GE enrichment

Term New enriched termICP valueGenes
cellular response to light stimulus (GO:0071482) NEW5.220.043MAPRE2, TUBB
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cytoskeleton (GO:0005856) 2.552MAPRE2, TUBB
cytoplasm (GO:0005737) 1.012MAPRE2, TUBB
supramolecular fiber (GO:0099512) 3.312MAPRE2, TUBB
polymeric cytoskeletal fiber (GO:0099513) 3.312MAPRE2, TUBB
intracellular non-membrane-bounded organelle (GO:0043232) 1.762MAPRE2, TUBB
cell part (GO:0044464) 0.112MAPRE2, TUBB
intracellular organelle part (GO:0044446) 0.812MAPRE2, TUBB
intracellular organelle (GO:0043229) 0.512MAPRE2, TUBB
non-membrane-bounded organelle (GO:0043228) 1.762MAPRE2, TUBB
cytoskeletal part (GO:0044430) 2.492MAPRE2, TUBB
intracellular part (GO:0044424) 0.282MAPRE2, TUBB
microtubule (GO:0005874) 3.812MAPRE2, TUBB
organelle (GO:0043226) 0.42MAPRE2, TUBB
organelle part (GO:0044422) 0.792MAPRE2, TUBB

NET-GE enrichment

Term New enriched termICP valueGenes
microtubule associated complex (GO:0005875) NEW4.790.017MAPRE2, TUBB