Disease table of TRICHOHEPATOENTERIC SYNDROME OMIM ID: PS222470

Gene-disease associations table

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Gene	Associated with TRICHOHEPATOENTERIC SYNDROME in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
SKIV2L	ClinVar, OMIM, HUMSAVAR	HGNC link	6p21.33	1	PS222470
TTC37	ClinVar, OMIM, HUMSAVAR	HGNC link	5q15	1	PS222470

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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

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Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
SKIV2L	TTC37	Yes	11	ITSN1, RRBP1, SIRT7, EXOSC4, RPL35, RPL10, EGFR, NPM1, NTRK1, EIF3A, FERMT1

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

Interactions from BIOGRID - genetic

Interactions from STRING

Interactions from CORUM

Gene1	Gene2	Direct Interaction	Complexes	Number of shared interactors	Shared genes in interaction
SKIV2L	TTC37	Yes	SKI complex	1	WDR61

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

Interactions from CENSUS

Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
SKIV2L	TTC37	No	1	ITSN1

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 term	KEGG term ID	IC	Number of genes with the same term	Genes
RNA degradation	hsa03018	6.48	2	TTC37, SKIV2L

NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
RNA degradation (hsa03018)	-	6.48	0.0	TTC37, SKIV2L
Folding, sorting and degradation	NEW	3.86	0.019	TTC37, SKIV2L

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

GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GO	IC	Number of genes with the same GO	Genes
binding (GO:0005488)	0.18	2	TTC37, SKIV2L

GO - biological process annotation: shared terms / NET-GE enrichment (no shared terms)

GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

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GO	IC	Number of genes with the same GO	Genes
Ski complex (GO:0055087)	8.7	2	TTC37, SKIV2L
nucleoplasm (GO:0005654)	1.89	2	TTC37, SKIV2L
nuclear part (GO:0044428)	1.55	2	TTC37, SKIV2L
protein complex (GO:0043234)	1.51	2	TTC37, SKIV2L
macromolecular complex (GO:0032991)	1.35	2	TTC37, SKIV2L
nucleus (GO:0005634)	1.07	2	TTC37, SKIV2L
cytoplasm (GO:0005737)	1.01	2	TTC37, SKIV2L
cytoplasmic part (GO:0044444)	0.82	2	TTC37, SKIV2L
intracellular organelle part (GO:0044446)	0.81	2	TTC37, SKIV2L
organelle part (GO:0044422)	0.79	2	TTC37, SKIV2L

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