Disease table of UROFACIAL SYNDROME OMIM ID: PS236730

Gene-disease associations table

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Gene	Associated with UROFACIAL SYNDROME in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
HPSE2	ClinVar, OMIM	HGNC link	10q24.2	1	PS236730
LRIG2	ClinVar, OMIM	HGNC link	1p13.2	1	PS236730

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Tandem repeat annotations from DGD

Cytogenetic band analysis

Transcription Factors (TF) annotation from TRRUST

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regulated gene	associated to this disease	# TFs	TFs	# TFs associated with this disease	TFs associated with this disease
HPSE2	YES	1	BTF3	0
LRIG2	YES	3	YY1, FOS, TAF1	0

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Interactions from BIOGRID - physical

Interactions from BIOGRID - genetic

Interactions from STRING

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: shared terms / NET-GE enrichment (no shared terms)

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

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

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GO	IC	Number of genes with the same GO	Genes
regulation of cellular process (GO:0050794)	0.5	2	LRIG2, HPSE2
single-organism process (GO:0044699)	0.48	2	LRIG2, HPSE2
regulation of biological process (GO:0050789)	0.45	2	LRIG2, HPSE2
biological regulation (GO:0065007)	0.39	2	LRIG2, HPSE2

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GO - cellular component annotation: shared terms (no NET-GE enrichment)

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GO	IC	Number of genes with the same GO	Genes
plasma membrane (GO:0005886)	1.39	2	LRIG2, HPSE2
membrane (GO:0016020)	0.68	2	LRIG2, HPSE2
cell part (GO:0044464)	0.11	2	LRIG2, HPSE2

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