rs111033303
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
T
0.800
CausalMutation
CLINVAR
Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct.
24224479
2014
rs111033303
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
T
0.800
CausalMutation
CLINVAR
Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss.
19509082
2009
rs111033303
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
0.800
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
rs111033303
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
T
0.800
CausalMutation
CLINVAR
A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss.
18285825
2008
rs111033303
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
T
0.800
CausalMutation
CLINVAR
Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).
17503324
2007
rs111033303
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
T
0.800
CausalMutation
CLINVAR
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.
16570074
2006
rs111033303
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
T
0.800
CausalMutation
CLINVAR
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
rs111033303
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
0.800
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
rs111033303
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
T
0.800
CausalMutation
CLINVAR
Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing.
16283880
2005
rs111033303
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
0.800
GeneticVariation
UNIPROT
Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene.
15531480
2004
rs111033303
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
0.800
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
rs111033303
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
0.800
GeneticVariation
UNIPROT
Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.
15355436
2004
rs111033303
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
T
0.800
CausalMutation
CLINVAR
Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.
15355436
2004
rs111033303
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
0.800
GeneticVariation
UNIPROT
Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation.
12788906
2003
rs111033303
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
0.800
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
rs111033303
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
0.800
GeneticVariation
UNIPROT
Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies.
11919333
2002
rs111033303
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
T
0.800
CausalMutation
CLINVAR
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
rs111033303
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
0.800
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
rs111033303
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
0.800
GeneticVariation
UNIPROT
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.
11317356
2001
rs111033303
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
0.800
GeneticVariation
UNIPROT
Clinical and molecular analysis of three Mexican families with Pendred's syndrome.
11375792
2001
rs111033303
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
0.800
GeneticVariation
UNIPROT
Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.
11748854
2001
rs111033303
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
0.800
GeneticVariation
UNIPROT
A novel mutation in the pendrin gene associated with Pendred's syndrome.
10718825
2000
rs111033303
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
0.800
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
rs111033303
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
0.800
GeneticVariation
UNIPROT
Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation.
10602116
2000
rs111033303
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
T
0.800
CausalMutation
CLINVAR
Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations.
10190331
1999