SLC26A4, solute carrier family 26 member 4, 5172

N. diseases: 194; N. variants: 174
Disease: Pendred's syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033316
rs111033316
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		G 0.800 GeneticVariation CLINVAR Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 26969326 2016
dbSNP: rs111033316
rs111033316
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		G 0.800 GeneticVariation CLINVAR Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome. 25394566 2015
dbSNP: rs111033316
rs111033316
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		G 0.800 GeneticVariation CLINVAR Etiology and audiological outcomes at 3 years for 364 children in Australia. 23555729 2013
dbSNP: rs111033316
rs111033316
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		G 0.800 GeneticVariation CLINVAR Genetic causes of goiter and deafness: Pendred syndrome in a girl and cooccurrence of Pendred syndrome and resistance to thyroid hormone in her sister. 19318451 2009
dbSNP: rs111033316
rs111033316
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
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: rs111033316
rs111033316
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		G 0.800 GeneticVariation CLINVAR Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms? 19204907 2009
dbSNP: rs111033316
rs111033316
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
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: rs111033316
rs111033316
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
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: rs111033316
rs111033316
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
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: rs111033316
rs111033316
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
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: rs111033316
rs111033316
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
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: rs111033316
rs111033316
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
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: rs111033316
rs111033316
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
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
dbSNP: rs111033316
rs111033316
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		0.800 GeneticVariation UNIPROT Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies. 11919333 2002
dbSNP: rs111033316
rs111033316
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
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
dbSNP: rs111033316
rs111033316
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		0.800 GeneticVariation UNIPROT Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment. 11748854 2001
dbSNP: rs111033316
rs111033316
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		0.800 GeneticVariation UNIPROT Clinical and molecular analysis of three Mexican families with Pendred's syndrome. 11375792 2001
dbSNP: rs111033316
rs111033316
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		0.800 GeneticVariation UNIPROT Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation. 10602116 2000
dbSNP: rs111033316
rs111033316
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		0.800 GeneticVariation UNIPROT A novel mutation in the pendrin gene associated with Pendred's syndrome. 10718825 2000
dbSNP: rs111033316
rs111033316
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
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
dbSNP: rs111033316
rs111033316
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		0.800 GeneticVariation UNIPROT Two frequent missense mutations in Pendred syndrome. 9618166 1998
dbSNP: rs111033316
rs111033316
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		0.800 GeneticVariation UNIPROT Molecular analysis of the PDS gene in Pendred syndrome. 9618167 1998
dbSNP: rs111033316
rs111033316
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		0.800 GeneticVariation UNIPROT Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). 9398842 1997