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: rs111033257
rs111033257
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		A 0.810 GeneticVariation CLINVAR Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study. 24599119 2014
dbSNP: rs111033257
rs111033257
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		A 0.810 GeneticVariation CLINVAR Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study. 22384008 2012
dbSNP: rs111033257
rs111033257
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		A 0.810 GeneticVariation CLINVAR Molecular and functional characterization of human pendrin and its allelic variants. 22116358 2011
dbSNP: rs111033257
rs111033257
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		A 0.810 GeneticVariation 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: rs111033257
rs111033257
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		0.810 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: rs111033257
rs111033257
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		A 0.810 GeneticVariation CLINVAR Evaluation of the thyroid in patients with hearing loss and enlarged vestibular aqueducts. 19620588 2009
dbSNP: rs111033257
rs111033257
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		A 0.810 GeneticVariation CLINVAR Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes. 19578036 2009
dbSNP: rs111033257
rs111033257
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
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: rs111033257
rs111033257
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		A 0.810 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: rs111033257
rs111033257
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		A 0.810 GeneticVariation CLINVAR Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis. 19040761 2008
dbSNP: rs111033257
rs111033257
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		A 0.810 GeneticVariation CLINVAR Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up. 16950989 2006
dbSNP: rs111033257
rs111033257
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		A 0.810 GeneticVariation CLINVAR Pathogenetics of the human SLC26 transporters. 15720248 2005
dbSNP: rs111033257
rs111033257
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		A 0.810 GeneticVariation CLINVAR 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: rs111033257
rs111033257
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
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: rs111033257
rs111033257
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
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: rs111033257
rs111033257
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
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: rs111033257
rs111033257
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		A 0.810 GeneticVariation CLINVAR Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations. 14679580 2004
dbSNP: rs111033257
rs111033257
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
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: rs111033257
rs111033257
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
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: rs111033257
rs111033257
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
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: rs111033257
rs111033257
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		A 0.810 GeneticVariation CLINVAR Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese. 14508505 2003
dbSNP: rs111033257
rs111033257
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
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: rs111033257
rs111033257
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		0.810 GeneticVariation UNIPROT Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies. 11919333 2002
dbSNP: rs111033257
rs111033257
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
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: rs111033257
rs111033257
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		0.810 GeneticVariation UNIPROT Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment. 11748854 2001