| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.180 | Biomarker | disease | BEFREE | Loss of MCT8 function causes Allan-Herndon-Dudley syndrome (AHDS, OMIM 300523) characterized by severe intellectual and motor disability due to cerebral hypothyroidism. | 30296914 | 2018 | ||||
|
0.180 | Biomarker | disease | BEFREE | Therefore, sobetirome and Sob-AM2 have the potential to address the cerebral hypothyroidism and the peripheral hyperthyroidism characteristic of MCT8 deficiency. | 29845892 | 2018 | ||||
|
0.180 | Biomarker | disease | BEFREE | A three-and-a-half-year-old male with clinical and biochemical AHDS phenotype and a history of normal neonatal screening for hypothyroidism underwent SLC16A2 molecular analysis. | 25517855 | 2015 | ||||
|
0.180 | Biomarker | disease | BEFREE | Mutations in the gene encoding the thyroid hormone (TH) transporter, monocarboxylate transporter 8 (MCT8), cause mental retardation in humans associated with a specific thyroid hormone phenotype manifesting high serum T3 and low T4 and rT3 levels. | 26322373 | 2015 | ||||
|
0.180 | Biomarker | disease | BEFREE | Heterozygous MCT8 women should be monitored for requirement of l-T₄ therapy to prevent fetal and neonatal hypothyroidism and to avoid risk of potential cognitive delay due to gestational hypothyroxinemia. | 21098685 | 2011 | ||||
|
0.180 | GeneticVariation | disease | BEFREE | The identified MCT8 gene mutation (R271H) is very likely to be the genetic cause for neuronal hypothyroidism despite elevated serum T3 levels. | 19018842 | 2009 | ||||
|
0.180 | Biomarker | disease | BEFREE | We thus hypothesized that neurons exclusively dependent on Mct8 are in a hypothyroid state, whereas neurons expressing other T(3) transporters become hyperthyroid, if they are exposed directly to the high plasma T(3). | 19641107 | 2009 | ||||
|
0.180 | Biomarker | disease | BEFREE | Mutations of the X-linked thyroid hormone (TH) transporter (monocarboxylate transporter, MCT8) produce in humans unusual abnormalities of thyroid function characterized by high serum T3 and low T4 and rT3. | 16709608 | 2006 | ||||
|
0.180 | Biomarker | disease | HPO |