| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.090 | GeneticVariation | phenotype | BEFREE | In only one toxic nodule with a TSH receptor mutation was random X inactivation detected. | 9435429 | 1998 | ||||
|
0.090 | GeneticVariation | phenotype | BEFREE | A TSH receptor mutation was also evident in the hyperfunctioning nodule that at histology had the features of noncapsulated hyperplastic nodule. | 9467563 | 1998 | ||||
|
0.090 | GeneticVariation | phenotype | BEFREE | In spite of this histological difference, both hyperfunctioning nodules harbored a mutation of the thyrotropin receptor (TSHr) gene: an isoleucine instead of a threonine in position 632 (T632I) in the first nodule and a methionine instead of an isoleucine in position 486 (I486M) in the second nodule. | 9709907 | 1998 | ||||
|
0.090 | GeneticVariation | phenotype | BEFREE | Because gain-of-function (activating) mutations of the thyroid-stimulating hormone receptor (TShR) and/or Gs alpha genes may confer TSh-independent growth advantage to neoplastic thyroid cells, we searched for somatic mutations of these genes in a series of hyperfunctioning and nonfunctioning follicular thyroid adenomas specifically selected for their homogeneous gross anatomy (single nodule in an otherwise normal thyroid gland). | 10566665 | 1999 | ||||
|
0.090 | GeneticVariation | phenotype | BEFREE | A met453thr mutation in TSHR was found in the nodule but not in normal thyroid tissue or in leukocytes. | 11035845 | 2000 | ||||
|
0.090 | GeneticVariation | phenotype | BEFREE | Each thyroid nodule harboured a different TSHR mutation (large nodule, Asp633Tyr; small nodule, Phe631Ile). | 14713269 | 2003 | ||||
|
0.090 | GeneticVariation | phenotype | BEFREE | No patients had coexistent TSHR and Gsalpha mutations in the same nodule. | 19550078 | 2009 | ||||
|
0.090 | GeneticVariation | phenotype | BEFREE | Follicular variant of papillary thyroid carcinoma presenting as toxic nodule in an adolescent: coexistent polymorphism of the TSHR and Gsα genes. | 22985488 | 2013 | ||||
|
0.090 | GeneticVariation | phenotype | BEFREE | TSHR mutations may be associated with an increased cancer risk when present at high allelic frequency, even when the nodule is hyperfunctioning. | 29516685 | 2018 |