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 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: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.100 GeneticVariation disease GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.020 GeneticVariation disease BEFREE Finally, we identified a novel, rare cell type that we call the 'pulmonary ionocyte', which co-expresses FOXI1, multiple subunits of the vacuolar-type H<sup>+</sup>-ATPase (V-ATPase) and CFTR, the gene that is mutated in cystic fibrosis. 30069046 2018
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 GeneticVariation group BEFREE Recently, FOXI1 and KCNJ10 mutations have been linked to enlarged vestibular aqueducts and GJB2 mutations linked to temporal bone malformation. 22412181 2012
CUI: C0302142
Disease: Deformity
Deformity 		0.010 GeneticVariation group BEFREE Recently, FOXI1 and KCNJ10 mutations have been linked to enlarged vestibular aqueducts and GJB2 mutations linked to temporal bone malformation. 22412181 2012
CUI: C1704380
Disease: Distal Renal Tubular Acidosis
Distal Renal Tubular Acidosis 		0.010 GeneticVariation disease BEFREE Mutations in adenosine triphosphate ATP6V1 (B1 H<sup>+</sup>-ATPase subunit), ATPV0A4 (a4 H<sup>+</sup>-ATPase subunit), SLC4A1 (anion exchanger 1), and FOXI1 (forkhead transcription factor) cause distal renal tubular acidosis type I. Carbonic anhydrase II mutations affect several nephron segments and give rise to a mixed proximal and distal phenotype. 31300090 2019
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 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
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		0.600 Biomarker disease CTD_human
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		0.600 Biomarker disease GENOMICS_ENGLAND Acidosis and Deafness in Patients with Recessive Mutations in FOXI1. 29242249 2018
CUI: C1863752
Disease: Enlarged Vestibular Aqueduct
Enlarged Vestibular Aqueduct 		0.400 Biomarker phenotype CLINGEN Expression of marker genes during early ear development in medaka. 16950663 2007
CUI: C1863752
Disease: Enlarged Vestibular Aqueduct
Enlarged Vestibular Aqueduct 		0.400 Biomarker phenotype CLINGEN Lack of pendrin expression leads to deafness and expansion of the endolymphatic compartment in inner ears of Foxi1 null mutant mice. 12642503 2003
CUI: C1863752
Disease: Enlarged Vestibular Aqueduct
Enlarged Vestibular Aqueduct 		0.400 Biomarker phenotype CLINGEN This finding is consistent with our observation that EVA occurs in the Slc26a4(+/-); Foxi1(+/-) double-heterozygous mouse mutant. 17503324 2007
CUI: C1863752
Disease: Enlarged Vestibular Aqueduct
Enlarged Vestibular Aqueduct 		0.400 Biomarker phenotype HPO
CUI: C1863752
Disease: Enlarged Vestibular Aqueduct
Enlarged Vestibular Aqueduct 		0.400 Biomarker phenotype CLINGEN Using next-generation sequencing technology, we set up a multiple polymerase chain reaction enrichment system for target regions of EVA pathogenic genes (SLC26A4, FOXI1, and KCNJ10). 27997596 2016
CUI: C1863752
Disease: Enlarged Vestibular Aqueduct
Enlarged Vestibular Aqueduct 		0.400 Biomarker phenotype CLINGEN Zebrafish foxi one modulates cellular responses to Fgf signaling required for the integrity of ear and jaw patterning. 12702667 2003
CUI: C1863752
Disease: Enlarged Vestibular Aqueduct
Enlarged Vestibular Aqueduct 		0.400 Biomarker phenotype CLINGEN The winged helix transcription factor Fkh10 is required for normal development of the inner ear. 9843211 1998
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis 		0.300 Biomarker phenotype GENOMICS_ENGLAND Acidosis and Deafness in Patients with Recessive Mutations in FOXI1. 29242249 2018
CUI: C0011053
Disease: Deafness
Deafness 		0.300 Biomarker phenotype GENOMICS_ENGLAND Acidosis and Deafness in Patients with Recessive Mutations in FOXI1. 29242249 2018
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.300 Biomarker group CTD_human A zebrafish screen for craniofacial mutants identifies wdr68 as a highly conserved gene required for endothelin-1 expression. 16759393 2006
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.300 Biomarker phenotype GENOMICS_ENGLAND Acidosis and Deafness in Patients with Recessive Mutations in FOXI1. 29242249 2018
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO