| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.470 | GeneticVariation | phenotype | BEFREE | In family 2, two brothers with psychomotor delay and goiter were homozygous for digenic mutations in the DUOX2 and DUOX1 genes, while their asymptomatic parents were heterozygous. | 30375286 | 2019 | ||||
|
0.470 | GeneticVariation | phenotype | BEFREE | CHX chase experiments demonstrated the <i>DUOX2</i> mutants had shorter half-lives and degraded more rapidly than wild-type <i>DUOX2.</i> Our study identified two novel <i>DUOX2</i> mutations in Chinese patients with CH and goiter, which were responsible for the deficit in the organification process. | 29435108 | 2018 | ||||
|
0.470 | GeneticVariation | phenotype | BEFREE | Furthermore, we also identified a compound heterozygosity involving the DUOX2 gene (ENST00000603300:c.1588A > T:p.Lys530* and c.3329G > A:p.Arg1110Gln) in both sisters which are inherited from both parents and may be correlated with early onset of goiter. | 28222800 | 2017 | ||||
|
0.470 | Biomarker | phenotype | GENOMICS_ENGLAND | High prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism. | 27166716 | 2016 | ||||
|
0.470 | GeneticVariation | phenotype | BEFREE | Moreover, the present data suggested that, together with goiter and PIOD, the most significant features to select patients for the DUOX2 analysis are the low free T4 and the high TSH concentrations at the first postnatal serum sampling, despite borderline blood spot TSH. | 24423310 | 2014 | ||||
|
0.470 | GeneticVariation | phenotype | BEFREE | Our study identified DUOX2 mutations in 14·9% of Chinese patients investigated with CH and goitre. | 24735383 | 2014 | ||||
|
0.470 | GeneticVariation | phenotype | BEFREE | Congenital hypothyroidism (CH) associated with goiter or a gland of normal size has been linked to dual oxidase 2 (DUOX2) mutations in the presence of iodide organification defect. | 21565790 | 2011 | ||||
|
0.470 | GeneticVariation | phenotype | BEFREE | A novel homozygous missense mutation of the dual oxidase 2 (DUOX2) gene in an adult patient with large goiter. | 18426362 | 2008 | ||||
|
0.470 | Biomarker | phenotype | HPO |