| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.010 | GeneticVariation | BEFREE | Hyperthyroidism and Papillary Thyroid Carcinoma in Thyrotropin Receptor D633H Mutant Mice. | 30132406 | 2018 |
||||
|
0.010 | GeneticVariation | BEFREE | Although no significant difference was found in TSHR D727E polymorphism frequencies between the patients with nodular goiters (26/123 patients, 21.1%) and the controls (12/97 patients, 12.4%) (P = 0.107), the frequency of the TSHR D727E polymorphism in the hyperthyroid+subclinical hyperthyroid patient groups (23%) was significantly higher than in the control subjects (12.4%) (P = 0.024). | 27525921 | 2016 |
||||
|
0.010 | GeneticVariation | BEFREE | This is consistent with the finding that only the index patient with the additional somatic mutation S281N was hyperthyroid. | 18466076 | 2008 |
||||
|
0.010 | GeneticVariation | BEFREE | A naturally occurring mutation in the ectodomain of the TSH receptor (TSHr), K183R, has been described recently in a familial case of gestational hyperthyroidism. | 11923469 | 2002 |
||||
|
0.010 | GeneticVariation | BEFREE | Herein, we report the molecular characterization of a case of severe congenital hyperthyroidism with a history of hyperthyroidism in the paternal aunt and the paternal grandmother, who were both found to be heterozygous for a mutation (R528H) located in exon 10 of the TSHR gene. | 9589634 | 1998 |
||||
|
0.010 | GeneticVariation | BEFREE | We report two different mutations in the TSHR gene of affected members of two large pedigrees with non-autoimmune autosomal dominant hyperthyroidism (toxic thyroid hyperplasia), that involve residues in the third (Val509Ala) and seventh (Cys672Tyr) transmembrane segments. | 7920658 | 1994 |
||||
|
0.010 | GeneticVariation | BEFREE | We report two different mutations in the TSHR gene of affected members of two large pedigrees with non-autoimmune autosomal dominant hyperthyroidism (toxic thyroid hyperplasia), that involve residues in the third (Val509Ala) and seventh (Cys672Tyr) transmembrane segments. | 7920658 | 1994 |