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
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
0.600 Biomarker disease CTD_human
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
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
0.600 CausalMutation disease CLINVAR
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
0.300 GermlineCausalMutation disease ORPHANET Acidosis and Deafness in Patients with Recessive Mutations in FOXI1. 29242249 2018
Sensorineural Hearing Loss (disorder)
0.100 Biomarker disease HPO
CUI: C0020502
Disease: Hyperparathyroidism
Hyperparathyroidism
0.100 Biomarker disease HPO
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.100 Biomarker disease HPO
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: C0040583
Disease: Tracheal Stenosis
Tracheal Stenosis
0.100 Biomarker disease HPO
CUI: C0342162
Disease: Compensated hypothyroidism
Compensated hypothyroidism
0.100 Biomarker disease HPO
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 Biomarker disease HPO
Congenital sensorineural hearing loss
0.100 Biomarker disease HPO
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: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.020 AlteredExpression disease BEFREE Knockout of Foxi1 in mouse ionocytes causes loss of Cftr expression and disrupts airway fluid and mucus physiology, phenotypes that are characteristic of cystic fibrosis. 30069044 2018
CUI: C0002881
Disease: Anemia, Hemolytic, Congenital
Anemia, Hemolytic, Congenital
0.010 Biomarker disease BEFREE Additional manifestations include bone demineralization (rickets, osteomalacia), growth deficiency, sensorineural hearing loss (in <i>ATP6V0A4-</i>, <i>ATP6V1B1-</i>, and <i>FOXI1-</i>dRTA), and hereditary hemolytic anemia (in some individuals with <i>SLC4A1-</i>dRTA). 31600869 2019
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 AlteredExpression disease BEFREE Chromophobe RCCs express FOXI1-driven genes that define collecting duct intercalated cells, whereas HNF-regulated genes, specific for proximal tubule cells, are an integral part of clear cell and papillary RCC transcriptomes. 28793269 2017
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
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
Conventional (Clear Cell) Renal Cell Carcinoma
0.010 AlteredExpression disease BEFREE Chromophobe RCCs express FOXI1-driven genes that define collecting duct intercalated cells, whereas HNF-regulated genes, specific for proximal tubule cells, are an integral part of clear cell and papillary RCC transcriptomes. 28793269 2017