Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
0.700 GeneticVariation phenotype BEFREE Considering the presence of SLC26A4 mutations and thyroid function, we could identify three sub-groups of patients: group 1, non syndromic EVA (ns EVA, no SLC26A4 mutation and no thyroid dysfunction); group 2, EVA with DFNB4 (single SLC26A4 gene mutation and no thyroid dysfunction); group 3, EVA with Pendred Syndrome (two pathological mutation of SLC26A4 and thyromegaly with thyroid dysfunction). 28780189 2017
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
0.700 GeneticVariation phenotype BEFREE Whole exome sequencing and/or Sanger sequencing of SLC26A4 in 117 individuals with sensorineural hearing loss with or without inner ear anomalies but not with goiter from Turkey, Iran, and Mexico were performed. 28964290 2017
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
0.700 GeneticVariation phenotype BEFREE Pendred syndrome is an autosomal recessive disorder characterized by hearing loss and goiter and is caused by bi-allelic mutations (homozygous or compound heterozygous) of the PDS (SLC26A4) gene. 26744121 2016
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
0.700 GeneticVariation phenotype BEFREE Clinical characteristics of patients with SLC26A4 mutations were congenital, fluctuating and progressive hearing loss usually associated with vertigo and/or goiter. 24599119 2014
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
0.700 Biomarker phenotype BEFREE We propose using a combination of three parameters to define and diagnose PS: (i) sensorineural deafness with bilateral EVA; (ii) thyroid abnormality comprising goiter and/or hypothyroidism and/or a positive PDT; (iii) biallelic SLC26A4 mutations. 24224479 2014
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
0.700 GeneticVariation phenotype BEFREE Loss of function mutations in pendrin protein cause Pendred syndrome, a disorder characterized by sensorineural deafness and a partial iodide organification defect that may lead to thyroid goiter. 24429826 2013
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
0.700 Biomarker phenotype BEFREE The first one is named Pendred Syndrome (PS) when deafness is associated with thyroid goiter; the second is called DFNB4, when no other symptoms are present. 22717225 2012
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
0.700 Biomarker phenotype BEFREE Results of this study stress the necessity of considering the analysis of SLC26A4 in molecular diagnosis of deafness especially when phenotypes such as goiter or enlarged vestibular aqueduct are present. 22444735 2012
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
0.700 GeneticVariation phenotype BEFREE Recessive mutations of the SLC26A4 (PDS) gene on chromosome 7q31 can cause sensorineural hearing loss with goiter (Pendred syndrome) or non-syndromic autosomal recessive hearing loss (DFNB4). 22429511 2012
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
0.700 GeneticVariation phenotype BEFREE Thyroid gland enlargement (goiter) appears to be primarily dependent on the presence of two mutant alleles of SLC26A4 in pediatric patients, but not in older patients. 22116369 2011
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
0.700 Biomarker phenotype BEFREE Pendred syndrome, a combination of sensorineural deafness, impaired organification of iodide in the thyroid and goitre, results from biallelic defects in pendrin (encoded by SLC26A4), which transports chloride and iodide in the inner ear and thyroid respectively. 21551164 2011
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
0.700 Biomarker phenotype BEFREE Absence of primary hypothyroidism and goiter in Slc26a4 (-/-) mice fed on a low iodine diet. 20834201 2011
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
0.700 GeneticVariation phenotype BEFREE Mutations in SLC26A4 cause Pendred syndrome (hearing loss with goiter) or DFNB4 (non-syndromic hearing loss with inner ear malformation, such as enlarged vestibular aqueduct or Mondini deformity). 21961810 2011
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
0.700 GeneticVariation phenotype BEFREE Deleterious mutations of SLC26A4 cause Pendred syndrome (PS), an autosomal recessive disorder comprising goitre and deafness with enlarged vestibular aqueducts (EVA), and nonsyndromic hearing loss (NSHL). 21045265 2010
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
0.700 GeneticVariation phenotype BEFREE Biallelic mutations of SLC26A4 (encoding pendrin) cause Pendred syndrome (PS), an autosomal recessive genetic disorder with deafness and goiter. 20583162 2010
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
0.700 Biomarker phenotype BEFREE Mutations in SLC26A4 cause Pendred syndrome (PS) - hearing loss with goitre - or DFNB4 - non-syndromic hearing loss (NSHL) with inner ear abnormalities such as Enlarged Vestibular Aqueduct (EVA) or Mondini Dysplasia (MD). 20597900 2010
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
0.700 GeneticVariation phenotype BEFREE Lack of goiter in subjects homozygous for c.416-1G-->A was due to incomplete penetrance allowing synthesis of some wild-type pendrin. 17940114 2008
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
0.700 GeneticVariation phenotype BEFREE It has been shown that mutations in the SLC26A4 gene are involved in syndromic deafness characterized by congenital sensorineural hearing impairment and goitre (Pendred's syndrome), as well as in congenital isolated deafness (DFNB4), both of which are associated with enlarged vestibular aqueduct (EVA). 17443271 2007
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
0.700 GeneticVariation phenotype BEFREE The present study confirmed the clinical characteristics of patients with SLC26A4 mutations: congenital, fluctuating, and progressive hearing loss usually associated with vertigo and/or goiter during long-term follow-up. 17851929 2007
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
0.700 Biomarker phenotype CTD_human The H723R mutation in the PDS/SLC26A4 gene is associated with typical Pendred syndrome in Korean patients. 17322586 2006
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
0.700 GeneticVariation phenotype BEFREE It has been shown that mutations of the SLC26A4 (PDS) gene were involved in syndromic deafness characterized by congenital sensorineural hearing impairment and goitre (Pendred's syndrome), as well as in congenital isolated deafness (DFNB4). 16570074 2006
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
0.700 GeneticVariation phenotype BEFREE Chloride uptake studies were made using HEK293-Phoenix cells expressing human wild type SLC26A4 (pendrin) and a mutant (SLC26A4(S28R)) we recently described in a patient with hypothyroidism, goiter and sensorineural hearing loss. 16791000 2006
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
0.700 GeneticVariation phenotype BEFREE Our study illustrates that if only a single heterozygous SLC26A4/PDS mutation is found in a patient with goiter and deafness, other genetic explanations should be considered. 16684826 2006
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
0.700 Biomarker phenotype CTD_human Molecular analysis of the PDS gene in a nonconsanguineous Sicilian family with Pendred's syndrome. 16053392 2005
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
0.700 GeneticVariation phenotype BEFREE All patients harbouring mutations in the SLC26A4 gene had goiter and a positive perchlorate discharge test: 3 were slightly hypothyroid and 2 euthyroid. 15279074 2004