Disease-gene associations mined from literature

Literature associating FOXI1 and Jervell-Lange Nielsen syndrome

FOXI1 [ENSP00000304286]

Hepatocyte nuclear factor 3 forkhead homolog 3; 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. Also required for the expression of SLC4A1/AE1, SLC4A9/AE4, ATP6V1B1 and the differentiation of intercalated cells in the epithelium of distal renal tubules (By similarity); Forkhead boxes

Synonyms:  FOXI1,  FOXI1p,  hFOXI1,  E0XEN6,  Q12951 ...

Linkouts:  STRING  Pharos  UniProt  OMIM