Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033305
rs111033305
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
A 0.800 CausalMutation CLINVAR Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct. 24224479

2014

dbSNP: rs111033305
rs111033305
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
A 0.800 CausalMutation CLINVAR Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China. 23918157

2013

dbSNP: rs111033305
rs111033305
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
A 0.800 CausalMutation CLINVAR SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations. 23336812

2013

dbSNP: rs111033305
rs111033305
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
A 0.800 CausalMutation CLINVAR Novel mutations in the SLC26A4 gene. 22717225

2012

dbSNP: rs111033305
rs111033305
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
A 0.800 CausalMutation CLINVAR Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct. 21961810

2011

dbSNP: rs111033305
rs111033305
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
A 0.800 CausalMutation CLINVAR Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct. 19786220

2009

dbSNP: rs111033305
rs111033305
CUI: C0271829
Disease: Pendred's syndrome
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

dbSNP: rs111033305
rs111033305
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
A 0.800 CausalMutation CLINVAR Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment. 18813951

2009

dbSNP: rs111033305
rs111033305
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
A 0.800 CausalMutation CLINVAR Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome. 19608655

2009

dbSNP: rs111033305
rs111033305
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
A 0.800 CausalMutation CLINVAR Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA. 19017801

2008

dbSNP: rs111033305
rs111033305
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
A 0.800 CausalMutation CLINVAR GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects. 18274916

2008

dbSNP: rs111033305
rs111033305
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
A 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

dbSNP: rs111033305
rs111033305
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
A 0.800 CausalMutation CLINVAR Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum. 17443271

2007

dbSNP: rs111033305
rs111033305
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
A 0.800 CausalMutation CLINVAR A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China. 17718863

2007

dbSNP: rs111033305
rs111033305
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
A 0.800 CausalMutation CLINVAR High phenotypic intrafamilial variability in patients with Pendred syndrome and a novel duplication in the SLC26A4 gene: clinical characterization and functional studies of the mutated SLC26A4 protein. 17766716

2007

dbSNP: rs111033305
rs111033305
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
A 0.800 CausalMutation CLINVAR Large vestibular aqueduct syndrome: audiological, radiological, clinical, and genetic features. 16275403

2006

dbSNP: rs111033305
rs111033305
CUI: C0271829
Disease: Pendred's syndrome
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

dbSNP: rs111033305
rs111033305
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
A 0.800 CausalMutation CLINVAR Molecular analysis of the PDS gene in a nonconsanguineous Sicilian family with Pendred's syndrome. 16053392

2005

dbSNP: rs111033305
rs111033305
CUI: C0271829
Disease: Pendred's syndrome
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

dbSNP: rs111033305
rs111033305
CUI: C0271829
Disease: Pendred's syndrome
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

dbSNP: rs111033305
rs111033305
CUI: C0271829
Disease: Pendred's syndrome
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

dbSNP: rs111033305
rs111033305
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
A 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

dbSNP: rs111033305
rs111033305
CUI: C0271829
Disease: Pendred's syndrome
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

dbSNP: rs111033305
rs111033305
CUI: C0271829
Disease: Pendred's syndrome
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

dbSNP: rs111033305
rs111033305
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
A 0.800 CausalMutation CLINVAR Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies. 11919333

2002