FOXI1, forkhead box I1, 2299

N. diseases: 42; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.630 GeneticVariation disease BEFREE Phenotypic analyses and mutation screening of the SLC26A4 and FOXI1 genes in 101 Taiwanese families with bilateral nonsyndromic enlarged vestibular aqueduct (DFNB4) or Pendred syndrome. 19648736 2010
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.630 CausalMutation disease CLINVAR
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.630 Biomarker disease BEFREE Together, these data suggest that SLC26A4, FOXI1 and KCNJ10 are not major determinants in unilateral deafness and enlarged vestibular aqueduct compared with their implication in Pendred syndrome and non-syndromic bilateral enlarged vestibular aqueduct. 20621367 2010
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.630 GeneticVariation disease BEFREE We also used this approach to scan for mutations in KCNJ10 and FOXI1, two genes reported to play a role in the pathogenesis of Pendred syndrome and enlarged vestibular aqueduct. 21366435 2011
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.630 Biomarker disease CTD_human
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.630 Biomarker disease MGD Thus, mutations in FOXI1 could prove to cause a Pendred syndrome-like human deafness. 12642503 2003
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.630 Biomarker disease MGD Distal renal tubular acidosis in mice that lack the forkhead transcription factor Foxi1. 15173882 2004