Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7173
Gene Symbol: TPO
TPO
0.700 Biomarker phenotype BEFREE Seventy-one (71) children and adolescents, with a mean age of 11.3 ± 0.3 years (range 4.5-17.8), diagnosed with AT (antibodies against thyroid peroxidase [anti-TPO] and/or thyroglobulin [anti-Tg] ≥60 IU/mL, euthyroidism or treated hypothyroidism and goitre in thyroid gland ultrasonography) were randomized to receive 200 μg l-selenomethionine or placebo daily for 6 months. 30306604 2019
Entrez Id: 7173
Gene Symbol: TPO
TPO
0.700 Biomarker phenotype BEFREE In family 1, the proposita with CH and goiter was heterozygous for three TPO, one TG, and one DUOX2 mutations, including three novel variants inherited from both parents. 30375286 2019
Entrez Id: 7173
Gene Symbol: TPO
TPO
0.700 Biomarker phenotype BEFREE Nivolumab-induced immune thrombocytopenia and hypothyroidism were suspected based on the presence of platelet-associated IgG, an increased level of autoantibodies to thyroglobulin and thyroid peroxidase and an enlarged thyroid gland. 29260625 2018
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: 7173
Gene Symbol: TPO
TPO
0.700 GeneticVariation phenotype BEFREE In conclusion, we report that TPO mutations with residual activity are associated with mild TPO deficiency, which is clinically characterized by marked goiter, mild TSH elevation, high serum T<sub>3</sub> to T<sub>4</sub> molar ratio, and high serum thyroglobulin levels. 28867693 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: 7173
Gene Symbol: TPO
TPO
0.700 Biomarker phenotype GENOMICS_ENGLAND High prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism. 27166716 2016
Entrez Id: 7173
Gene Symbol: TPO
TPO
0.700 Biomarker phenotype BEFREE The main outcomes were TPOAb concentrations and positivity, thyroid hormone concentrations (TSH, free T4), and clinical thyroid diseases (subclinical and overt hypothyroidism and goiter). 25719932 2015
Entrez Id: 7173
Gene Symbol: TPO
TPO
0.700 GeneticVariation phenotype BEFREE The compound heterozygotic mutations of the TPO gene (c.2268-2269 insT and c.2090 G>A) in two patients with congenital goiters hypothyroidism were demonstrated. 26406404 2015
Entrez Id: 7173
Gene Symbol: TPO
TPO
0.700 GeneticVariation phenotype BEFREE Clinical manifestations of TPO defects are typically permanent CH and with or without goiter. 24158420 2014
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: 7173
Gene Symbol: TPO
TPO
0.700 GeneticVariation phenotype BEFREE The aim of this study was to screen for DUOX2, TPO and TG mutations in Chinese patients with congenital hypothyroidism (CH) and goitre and to define the relationships between DUOX2 genotypes and clinical phenotypes. 24735383 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: 7173
Gene Symbol: TPO
TPO
0.700 GeneticVariation phenotype BEFREE Genetics and phenomics of hypothyroidism and goiter due to TPO mutations. 20153806 2010