SLC26A4, solute carrier family 26 member 4, 5172

N. diseases: 194; N. variants: 174
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908362
rs121908362
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		G 0.820 CausalMutation CLINVAR Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations. 24007330 2014
dbSNP: rs111033307
rs111033307
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		G 0.820 CausalMutation 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: rs111033307
rs111033307
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		G 0.820 CausalMutation CLINVAR Two missense mutations in SLC26A4 gene: a molecular and functional study. 20128824 2010
dbSNP: rs111033307
rs111033307
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		0.820 GeneticVariation BEFREE A single Pendred syndrome (PDS) gene mutation, L445W, was found. 20822748 2010
dbSNP: rs121908362
rs121908362
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		G 0.820 CausalMutation CLINVAR 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
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
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: rs111033307
rs111033307
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
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: rs111033307
rs111033307
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		G 0.820 CausalMutation 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: rs121908362
rs121908362
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
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: rs111033307
rs111033307
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		0.820 GeneticVariation BEFREE This study also revealed the first case of a de novo recessive mutation p.Q413P causing PS that arose in the proband's paternal allele, the maternal one carrying the p.L445W. 18285825 2008
dbSNP: rs121908362
rs121908362
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		G 0.820 CausalMutation CLINVAR Heterogeneity in the processing defect of SLC26A4 mutants. 18310264 2008
dbSNP: rs121908362
rs121908362
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		G 0.820 GeneticVariation CLINVAR Heterogeneity in the processing defect of SLC26A4 mutants. 18310264 2008
dbSNP: rs121908362
rs121908362
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		G 0.820 CausalMutation CLINVAR A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China. 17718863 2007
dbSNP: rs111033307
rs111033307
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		G 0.820 CausalMutation CLINVAR SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. 16570074 2006
dbSNP: rs121908362
rs121908362
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
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: rs111033307
rs111033307
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
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
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
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: rs111033307
rs111033307
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
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
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
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: rs111033307
rs111033307
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
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
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
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
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
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
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
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: rs111033307
rs111033307
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
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: rs111033307
rs111033307
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
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