Disease table of UROFACIAL SYNDROME OMIM ID: PS236730

Gene-disease associations table

GeneAssociated with UROFACIAL SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
HPSE2ClinVar, OMIMHGNC link10q24.21PS236730
LRIG2ClinVar, OMIMHGNC link1p13.21PS236730

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
HPSE2YES1BTF30
LRIG2YES3YY1, FOS, TAF10
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)

Shared terms

GOICNumber of genes with the same GOGenes
biological regulation (GO:0065007) 0.392LRIG2, HPSE2
regulation of biological process (GO:0050789) 0.452LRIG2, HPSE2
single-organism process (GO:0044699) 0.482LRIG2, HPSE2
regulation of cellular process (GO:0050794) 0.52LRIG2, HPSE2
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
membrane (GO:0016020) 0.682LRIG2, HPSE2
cell part (GO:0044464) 0.112LRIG2, HPSE2
plasma membrane (GO:0005886) 1.392LRIG2, HPSE2