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 |
Pendred's syndrome
|
0.630 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
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 |
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 |
Pendred's syndrome
|
0.630 |
Biomarker
|
disease |
CTD_human |
|
|
|
Pendred's syndrome
|
0.630 |
Biomarker
|
disease |
MGD |
Thus, mutations in FOXI1 could prove to cause a Pendred syndrome-like human deafness.
|
12642503 |
2003 |
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 |
|
|
|
Hyperparathyroidism
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Hypothyroidism
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
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 |
Tracheal Stenosis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Compensated hypothyroidism
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Thyroid carcinoma
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Congenital sensorineural hearing loss
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
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 |
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 |
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 |
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 |
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 |