rs111033348
|
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities.
|
15689455 |
2005 |
rs111033348
|
|
Pendred's syndrome
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Molecular analysis of SLC26A4 gene in patients with nonsyndromic hearing loss and EVA: identification of two novel mutations in Brazilian patients.
|
23273637 |
2013 |
rs111033348
|
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Hearing impairment was caused in one family by a novel mutation in the recently identified OTOF (the DFNB9 gene), by a novel Pendred syndrome mutation (Thr193Ile) in another family, and by a GJB2 mutation (35delG also known as 30delG) in the third family.
|
10878664 |
2000 |
rs111033348
|
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.
|
11317356 |
2001 |
rs111033348
|
|
Pendred's syndrome
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies.
|
17940114 |
2008 |
rs111033348
|
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
BEFREE |
Hearing impairment was caused in one family by a novel mutation in the recently identified OTOF (the DFNB9 gene), by a novel Pendred syndrome mutation (Thr193Ile) in another family, and by a GJB2 mutation (35delG also known as 30delG) in the third family.
|
10878664 |
2000 |
rs111033348
|
|
Pendred's syndrome
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA).
|
20597900 |
2010 |
rs111033348
|
|
Pendred's syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
|
|
|
rs111033348
|
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.
|
11748854 |
2001 |
rs111033348
|
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.
|
15355436 |
2004 |
rs111033348
|
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation.
|
12788906 |
2003 |
rs111033348
|
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Clinical and molecular analysis of three Mexican families with Pendred's syndrome.
|
11375792 |
2001 |
rs111033348
|
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome.
|
11932316 |
2002 |
rs111033348
|
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation.
|
10602116 |
2000 |
rs111033348
|
|
Pendred's syndrome
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Hearing impairment was caused in one family by a novel mutation in the recently identified OTOF (the DFNB9 gene), by a novel Pendred syndrome mutation (Thr193Ile) in another family, and by a GJB2 mutation (35delG also known as 30delG) in the third family.
|
10878664 |
2000 |
rs111033348
|
|
Pendred's syndrome
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
DNA sequence analysis and genotype-phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy.
|
25991456 |
2015 |
rs111033348
|
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Screening the SLC26A4 gene in probands with deafness and goiter (Pendred syndrome) ascertained from a large group of students of the schools for the deaf in Turkey.
|
12974744 |
2003 |
rs111033348
|
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Two frequent missense mutations in Pendred syndrome.
|
9618166 |
1998 |
rs111033348
|
|
Pendred's syndrome
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Reduction of Cellular Expression Levels Is a Common Feature of Functionally Affected Pendrin (SLC26A4) Protein Variants.
|
26752218 |
2016 |
rs111033348
|
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?
|
19204907 |
2009 |
rs111033348
|
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).
|
9398842 |
1997 |
rs111033348
|
|
Pendred's syndrome
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.
|
16570074 |
2006 |
rs111033348
|
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A novel mutation in the pendrin gene associated with Pendred's syndrome.
|
10718825 |
2000 |
rs111033348
|
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.
|
14679580 |
2004 |
rs111033348
|
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene.
|
15531480 |
2004 |