Disease table of PENDRED SYNDROME OMIM ID: 274600

Gene-disease associations table

GeneAssociated with PENDRED SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
FOXI1ClinVarHGNC link5q35.12274600, PS220290
SLC26A4ClinVar, OMIM, HUMSAVARHGNC link7q22.32274600, PS220290

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
Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
FOXI1SLC26A4Yesbinding, expression0

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

Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
Gene1Gene2Direct interactionMore information
FOXI1SLC26A4yes, maybe indirectFOXI1 is a transcriptional activator required for the development of normal hearing, sense of balance and kidney function. Required for the expression of SLC26A4/PDS, JAG1 and COCH in a subset of epithelial cells and the development of the endolymphatic system in the inner ear. [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 (no shared terms)
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
cellular process (GO:0009987) 0.262SLC26A4, FOXI1
multicellular organismal process (GO:0032501) 1.452SLC26A4, FOXI1
biological regulation (GO:0065007) 0.392SLC26A4, FOXI1
regulation of biological process (GO:0050789) 0.452SLC26A4, FOXI1
single-organism process (GO:0044699) 0.482SLC26A4, FOXI1
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
cell part (GO:0044464) 0.112SLC26A4, FOXI1
membrane-bounded organelle (GO:0043227) 0.472SLC26A4, FOXI1
organelle (GO:0043226) 0.42SLC26A4, FOXI1