Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908362
rs121908362
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.820 GeneticVariation BEFREE The H723R mutation in the PDS/SLC26A4 gene is associated with typical Pendred syndrome in Korean patients. 17322586

2006

dbSNP: rs121908362
rs121908362
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.820 GeneticVariation UNIPROT Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation. 10602116

2000

dbSNP: rs121908362
rs121908362
CUI: C0271829
Disease: Pendred's syndrome
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

dbSNP: rs121908362
rs121908362
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.820 GeneticVariation UNIPROT Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies. 11919333

2002

dbSNP: rs121908362
rs121908362
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.820 GeneticVariation UNIPROT Molecular analysis of the PDS gene in Pendred syndrome. 9618167

1998

dbSNP: rs121908362
rs121908362
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
G 0.820 GeneticVariation CLINVAR Heterogeneity in the processing defect of SLC26A4 mutants. 18310264

2008

dbSNP: rs121908362
rs121908362
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.820 GeneticVariation UNIPROT Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment. 11748854

2001

dbSNP: rs121908362
rs121908362
CUI: C0271829
Disease: Pendred's syndrome
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

dbSNP: rs121908362
rs121908362
CUI: C0271829
Disease: Pendred's syndrome
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

dbSNP: rs121908362
rs121908362
CUI: C0271829
Disease: Pendred's syndrome
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

dbSNP: rs121908362
rs121908362
CUI: C0271829
Disease: Pendred's syndrome
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

dbSNP: rs121908362
rs121908362
CUI: C0271829
Disease: Pendred's syndrome
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

dbSNP: rs121908362
rs121908362
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.820 GeneticVariation UNIPROT Clinical and molecular analysis of three Mexican families with Pendred's syndrome. 11375792

2001

dbSNP: rs121908362
rs121908362
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.820 GeneticVariation UNIPROT A novel mutation in the pendrin gene associated with Pendred's syndrome. 10718825

2000

dbSNP: rs121908362
rs121908362
CUI: C0271829
Disease: Pendred's syndrome
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

dbSNP: rs121908362
rs121908362
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.820 GeneticVariation UNIPROT Two frequent missense mutations in Pendred syndrome. 9618166

1998

dbSNP: rs121908362
rs121908362
CUI: C0271829
Disease: Pendred's syndrome
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

dbSNP: rs121908362
rs121908362
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.820 GeneticVariation UNIPROT Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). 9398842

1997

dbSNP: rs121908362
rs121908362
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.820 GeneticVariation BEFREE Therefore, in this study, we focused on the function of ten missense pendrin mutations (p.P123S (Pendred syndrome), p.M147V (NSEVA), p.K369E (NSEVA), p.A372V (Pendred syndrome/NSEVA), p.N392Y (Pendred syndrome), p.C565Y (NSEVA), p.S657N (NSEVA), p.S666F (NSEVA), p.T721M (NSEVA) and p.H723R (Pendred syndrome/NSEVA)) reported in Japanese patients, and analyzed their cellular localization and anion exchanger activity using HEK293 cells transfected with each mutant gene. 20826203

2010

dbSNP: rs121908362
rs121908362
CUI: C0271829
Disease: Pendred's syndrome
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

dbSNP: rs121908362
rs121908362
CUI: C0271829
Disease: Pendred's syndrome
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

dbSNP: rs111033307
rs111033307
CUI: C0271829
Disease: Pendred's syndrome
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

dbSNP: rs111033307
rs111033307
CUI: C0271829
Disease: Pendred's syndrome
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

dbSNP: rs111033307
rs111033307
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.820 GeneticVariation UNIPROT Two frequent missense mutations in Pendred syndrome. 9618166

1998

dbSNP: rs111033307
rs111033307
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.820 GeneticVariation UNIPROT Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation. 10602116

2000