Disease table of TRICHOHEPATOENTERIC SYNDROME OMIM ID: PS222470

Gene-disease associations table

GeneAssociated with TRICHOHEPATOENTERIC SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
SKIV2LClinVar, OMIM, HUMSAVARHGNC link6p21.331PS222470
TTC37ClinVar, OMIM, HUMSAVARHGNC link5q151PS222470

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
SKIV2LTTC37Yes11ITSN1, RRBP1, SIRT7, EXOSC4, RPL35, RPL10, EGFR, NPM1, NTRK1, EIF3A, FERMT1

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

Interactions from BIOGRID - genetic
Interactions from STRING
Interactions from CORUM
Gene1Gene2Direct InteractionComplexesNumber of shared interactorsShared genes in interaction
SKIV2LTTC37YesSKI complex1WDR61

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

Interactions from CENSUS
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
SKIV2LTTC37No1ITSN1

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

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
RNA degradationhsa030186.482TTC37, SKIV2L

NET-GE enrichment

Term New enriched termICP valueGenes
Folding, sorting and degradationNEW3.860.019TTC37, SKIV2L
RNA degradation (hsa03018) -6.480.0TTC37, SKIV2L
REACTOME pathways annotation: shared terms / NET-GE enrichment (no shared terms)
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.182TTC37, SKIV2L
GO - biological process annotation: shared terms / NET-GE enrichment (no shared terms)
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cytoplasm (GO:0005737) 1.012TTC37, SKIV2L
intracellular organelle part (GO:0044446) 0.812TTC37, SKIV2L
macromolecular complex (GO:0032991) 1.352TTC37, SKIV2L
intracellular membrane-bounded organelle (GO:0043231) 0.62TTC37, SKIV2L
nucleus (GO:0005634) 1.072TTC37, SKIV2L
cell part (GO:0044464) 0.112TTC37, SKIV2L
intracellular organelle (GO:0043229) 0.512TTC37, SKIV2L
nucleoplasm (GO:0005654) 1.892TTC37, SKIV2L
cytoplasmic part (GO:0044444) 0.822TTC37, SKIV2L
nuclear part (GO:0044428) 1.552TTC37, SKIV2L
intracellular part (GO:0044424) 0.282TTC37, SKIV2L
protein complex (GO:0043234) 1.512TTC37, SKIV2L
membrane-bounded organelle (GO:0043227) 0.472TTC37, SKIV2L
organelle (GO:0043226) 0.42TTC37, SKIV2L
organelle part (GO:0044422) 0.792TTC37, SKIV2L
Ski complex (GO:0055087) 8.72TTC37, SKIV2L

NET-GE enrichment

Term New enriched termICP valueGenes
Ski complex (GO:0055087) -8.70.0TTC37, SKIV2L