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 |
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 |
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 |
Biomarker
|
disease |
MGD |
Distal renal tubular acidosis in mice that lack the forkhead transcription factor Foxi1.
|
15173882 |
2004 |
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 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Pendred's syndrome
|
0.630 |
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 |
Biomarker
|
disease |
CTD_human |
|
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
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 |
Enlarged Vestibular Aqueduct
|
0.400 |
Biomarker
|
phenotype |
CLINGEN |
Expression of marker genes during early ear development in medaka.
|
16950663 |
2007 |
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 |
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 |
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 |
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 |
Enlarged Vestibular Aqueduct
|
0.400 |
Biomarker
|
phenotype |
HPO |
|
|
|
Renal tubular acidosis
|
0.300 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Acidosis and Deafness in Patients with Recessive Mutations in FOXI1.
|
29242249 |
2018 |
Deafness
|
0.300 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Acidosis and Deafness in Patients with Recessive Mutations in FOXI1.
|
29242249 |
2018 |
hearing impairment
|
0.300 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Acidosis and Deafness in Patients with Recessive Mutations in FOXI1.
|
29242249 |
2018 |
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
Acidosis and Deafness in Patients with Recessive Mutations in FOXI1.
|
29242249 |
2018 |
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 |
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 |
Ataxia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Goiter
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|