Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033348
rs111033348
CUI: C0271829
Disease: Pendred's syndrome
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

dbSNP: rs111033348
rs111033348
CUI: C0271829
Disease: Pendred's syndrome
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

dbSNP: rs111033348
rs111033348
CUI: C0271829
Disease: Pendred's syndrome
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

dbSNP: rs111033348
rs111033348
CUI: C0271829
Disease: Pendred's syndrome
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

dbSNP: rs111033348
rs111033348
CUI: C0271829
Disease: Pendred's syndrome
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

dbSNP: rs111033348
rs111033348
CUI: C0271829
Disease: Pendred's syndrome
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

dbSNP: rs111033348
rs111033348
CUI: C0271829
Disease: Pendred's syndrome
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

dbSNP: rs111033348
rs111033348
CUI: C0271829
Disease: Pendred's syndrome
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

dbSNP: rs111033348
rs111033348
CUI: C0271829
Disease: Pendred's syndrome
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

dbSNP: rs111033348
rs111033348
CUI: C0271829
Disease: Pendred's syndrome
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

dbSNP: rs111033348
rs111033348
CUI: C0271829
Disease: Pendred's syndrome
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

dbSNP: rs111033348
rs111033348
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
T 0.810 GeneticVariation CLINVAR Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity. 15355436

2004

dbSNP: rs111033348
rs111033348
CUI: C0271829
Disease: Pendred's syndrome
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

dbSNP: rs111033348
rs111033348
CUI: C0271829
Disease: Pendred's syndrome
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

dbSNP: rs111033348
rs111033348
CUI: C0271829
Disease: Pendred's syndrome
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

dbSNP: rs111033348
rs111033348
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.810 GeneticVariation UNIPROT Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies. 11919333

2002

dbSNP: rs111033348
rs111033348
CUI: C0271829
Disease: Pendred's syndrome
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

dbSNP: rs111033348
rs111033348
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.810 GeneticVariation UNIPROT Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment. 11748854

2001

dbSNP: rs111033348
rs111033348
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.810 GeneticVariation UNIPROT Clinical and molecular analysis of three Mexican families with Pendred's syndrome. 11375792

2001

dbSNP: rs111033348
rs111033348
CUI: C0271829
Disease: Pendred's syndrome
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

dbSNP: rs111033348
rs111033348
CUI: C0271829
Disease: Pendred's syndrome
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

dbSNP: rs111033348
rs111033348
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.810 GeneticVariation UNIPROT Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation. 10602116

2000

dbSNP: rs111033348
rs111033348
CUI: C0271829
Disease: Pendred's syndrome
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

dbSNP: rs111033348
rs111033348
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.810 GeneticVariation UNIPROT A novel mutation in the pendrin gene associated with Pendred's syndrome. 10718825

2000

dbSNP: rs111033348
rs111033348
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.810 GeneticVariation UNIPROT Two frequent missense mutations in Pendred syndrome. 9618166

1998