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: rs111033199
rs111033199
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		C 0.810 GeneticVariation CLINVAR Resistance to hypertension and high Cl- excretion in humans with SLC26A4 mutations. 27090054 2017
dbSNP: rs111033199
rs111033199
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		C 0.810 GeneticVariation CLINVAR Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain. 27771369 2017
dbSNP: rs111033199
rs111033199
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		T 0.810 CausalMutation CLINVAR Ethnic-specific spectrum of GJB2 and SLC26A4 mutations: their origin and a literature review. 25999548 2015
dbSNP: rs111033199
rs111033199
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		T 0.810 CausalMutation CLINVAR Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis. 26683941 2015
dbSNP: rs111033199
rs111033199
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		T 0.810 CausalMutation CLINVAR Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct. 24224479 2014
dbSNP: rs111033199
rs111033199
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		T 0.810 CausalMutation CLINVAR SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations. 23336812 2013
dbSNP: rs111033199
rs111033199
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		T 0.810 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: rs111033199
rs111033199
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		T 0.810 CausalMutation CLINVAR Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts. 23965030 2013
dbSNP: rs111033199
rs111033199
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		T 0.810 CausalMutation CLINVAR Life-threatening metabolic alkalosis in Pendred syndrome. 21551164 2011
dbSNP: rs111033199
rs111033199
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		T 0.810 CausalMutation CLINVAR Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA). 20597900 2010
dbSNP: rs111033199
rs111033199
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		T 0.810 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: rs111033199
rs111033199
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: rs111033199
rs111033199
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		C 0.810 GeneticVariation CLINVAR Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians. 19645628 2009
dbSNP: rs111033199
rs111033199
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		T 0.810 CausalMutation CLINVAR A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss. 18285825 2008
dbSNP: rs111033199
rs111033199
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		T 0.810 CausalMutation CLINVAR Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA. 19017801 2008
dbSNP: rs111033199
rs111033199
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		T 0.810 CausalMutation CLINVAR Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). 17503324 2007
dbSNP: rs111033199
rs111033199
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		T 0.810 CausalMutation CLINVAR SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. 16570074 2006
dbSNP: rs111033199
rs111033199
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: rs111033199
rs111033199
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		T 0.810 CausalMutation 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: rs111033199
rs111033199
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: rs111033199
rs111033199
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		T 0.810 CausalMutation CLINVAR Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity. 15355436 2004
dbSNP: rs111033199
rs111033199
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: rs111033199
rs111033199
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: rs111033199
rs111033199
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		0.810 GeneticVariation UNIPROT We therefore concluded that V138F is a founder mutation in our cohort of German families with Pendred's syndrome. 12788906 2003
dbSNP: rs111033199
rs111033199
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		T 0.810 CausalMutation CLINVAR We therefore concluded that V138F is a founder mutation in our cohort of German families with Pendred's syndrome. 12788906 2003