rs111033307
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
0.820
GeneticVariation
UNIPROT
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.
11317356
2001
rs111033307
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
0.820
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
rs111033307
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
G
0.820
CausalMutation
CLINVAR
Two missense mutations in SLC26A4 gene: a molecular and functional study.
20128824
2010
rs111033307
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
0.820
GeneticVariation
UNIPROT
Two frequent missense mutations in Pendred syndrome.
9618166
1998
rs111033307
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
0.820
GeneticVariation
UNIPROT
Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation.
10602116
2000
rs111033307
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
0.820
GeneticVariation
UNIPROT
Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.
11748854
2001
rs111033307
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
0.820
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
rs111033307
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
0.820
GeneticVariation
BEFREE
This study also revealed the first case of a de novo recessive mutation p.Q413P causing PS that arose in the proband's paternal allele, the maternal one carrying the p.L445W .
18285825
2008
rs111033307
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
0.820
GeneticVariation
UNIPROT
Molecular analysis of the PDS gene in Pendred syndrome.
9618167
1998
rs111033307
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
0.820
GeneticVariation
UNIPROT
Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.
15355436
2004
rs111033307
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
0.820
GeneticVariation
UNIPROT
Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation.
12788906
2003
rs111033307
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
0.820
GeneticVariation
UNIPROT
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).
9398842
1997
rs111033307
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
0.820
GeneticVariation
UNIPROT
Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus.
10878664
2000
rs111033307
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
0.820
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
rs111033307
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
G
0.820
CausalMutation
CLINVAR
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.
16570074
2006
rs111033307
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
0.820
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
rs111033307
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
0.820
GeneticVariation
UNIPROT
Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies.
11919333
2002
rs111033307
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
0.820
GeneticVariation
UNIPROT
Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene.
15531480
2004
rs111033307
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
0.820
GeneticVariation
UNIPROT
Clinical and molecular analysis of three Mexican families with Pendred's syndrome.
11375792
2001
rs111033307
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
0.820
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
rs111033307
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
G
0.820
CausalMutation
CLINVAR
Two frequent missense mutations in Pendred syndrome.
9618166
1998
rs111033307
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
0.820
GeneticVariation
UNIPROT
A novel mutation in the pendrin gene associated with Pendred's syndrome.
10718825
2000
rs111033307
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
G
0.820
CausalMutation
CLINVAR
Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?
19204907
2009
rs111033307
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
0.820
GeneticVariation
BEFREE
A single Pendred syndrome (PDS) gene mutation, L445W , was found.
20822748
2010
rs111033307
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
G
0.820
CausalMutation
CLINVAR
Molecular analysis of SLC26A4 gene in patients with nonsyndromic hearing loss and EVA: identification of two novel mutations in Brazilian patients.
23273637
2013