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: C0346255
Disease: Oncocytoma, renal
Oncocytoma, renal 		0.010 Biomarker disease BEFREE Although the origin of RO remains unclear, our findings suggest that FOXI1 immunohistochemistry is useful in differential diagnosis of RO from chRCC with overlapping histology. 31177114 2019
CUI: C0392485
Disease: Congenital diverticulum of pharynx
Congenital diverticulum of pharynx 		0.010 Biomarker disease BEFREE Foxi1 promotes late-stage pharyngeal pouch morphogenesis through ectodermal Wnt4a activation. 29932895 2018
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 AlteredExpression disease BEFREE In conclusion, to the best of our knowledge, our findings are the first to demonstrate that Foxi1 is a key player in the transcriptional control of miR-491-5p and that miR-491-5p acts as an anti-oncogene by targeting Wnt3a/β-catenin signaling in GC. 28358374 2017
CUI: C1266042
Disease: Chromophobe Renal Cell Carcinoma
Chromophobe Renal Cell Carcinoma 		0.010 Biomarker disease BEFREE Although the origin of RO remains unclear, our findings suggest that FOXI1 immunohistochemistry is useful in differential diagnosis of RO from chRCC with overlapping histology. 31177114 2019
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: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.010 Biomarker disease BEFREE The FOXI1 gene, which causes autosomal recessive deafness (OMIM 600791, DFNB4) when mutated, was contained within the uniparental isodisomy region (5q34-qter). 23824987 2013
CUI: C2607947
Disease: Unilateral deafness
Unilateral deafness 		0.010 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: 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: 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
CUI: C0018021
Disease: Goiter
Goiter 		0.100 Biomarker phenotype HPO
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		0.100 Biomarker phenotype HPO
CUI: C0042571
Disease: Vertigo
Vertigo 		0.100 Biomarker phenotype HPO
CUI: C1843865
Disease: Vestibular dysfunction
Vestibular dysfunction 		0.100 Biomarker phenotype HPO
CUI: C1862050
Disease: Cochlear malformation
Cochlear malformation 		0.100 Biomarker phenotype HPO
CUI: C2676974
Disease: Hypoplasia of the cochlea
Hypoplasia of the cochlea 		0.100 Biomarker phenotype HPO
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		0.100 Biomarker phenotype HPO