Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.200 Biomarker disease BEFREE One case presented with biochemical evidence of hypothyroidism and positive TSH receptor antibodies. 30398662 2019
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.200 GeneticVariation disease BEFREE Double variants in TSHR and DUOX2 in a patient with hypothyroidism: case report. 31541602 2019
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.200 Biomarker disease BEFREE HT is characteristic of hypothyroidism resulting from the destruction of the thyroid while GD is characteristic of hyperthyroidism due to excessive production of thyroid hormone induced by thyrotropin receptor-specific stimulatory autoantibodies. 30246383 2019
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.200 AlteredExpression disease BEFREE Therefore, in this study, effects of hypothyroidism on expression of the proteins related to thyroid hormone function in the uterus, which were thought to play a role implantation, including thyroid hormone receptor (TR), thyroid stimulating hormone receptor (TSHR), retinoic acid receptor (RAR) and extracellular kinase (ERK) were identified. 30761678 2019
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.200 Biomarker disease BEFREE In alemtuzumab-induced TD, the autoantibodies against the thyrotropin receptor (TRAb) play a major role, and 2 main aspects distinguish this condition from the spontaneous form: (1) up to 20% of GD cases exhibit a fluctuating course, with alternating phases of hyper- and hypothyroidism, due to the coexistence of TRAb with stimulating and blocking function; (2) TRAb are also positive in about 70% of hypothyroid patients, with blocking TRAb responsible for nearly half of the cases. 31602359 2019
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.200 GeneticVariation disease BEFREE Consequently, TSHR mutations along with DIO2 T92A SNP ("double hit") may lead to a significant reduction in DIO2 activity stimulated by TSH, and thereby may have clinical relevance in a select population of hypothyroidism patients who might benefit from a T3/T4 combination therapy. 29973617 2018
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.200 Biomarker disease BEFREE Baseline TSH receptor antibody titre, pre-treatment free thyroxine (FT4), technetium scan uptake, initial treatment, duration of treatment, reason for definitive therapy, complications, and time to remission (defined as euthyroidism or hypothyroidism after 12 months) were recorded. 30541519 2018
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.200 GeneticVariation disease BEFREE Combination testing of ihTRAb and TPOAb at baseline predicted 20% of subsequent cases of hyperthyroidism and 83% of hypothyroidism. 30351224 2018
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.200 Biomarker disease BEFREE Generation and characterization of a hypothyroidism rat model with truncated thyroid stimulating hormone receptor. 29507327 2018
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.200 Biomarker disease BEFREE Our study identifies GLIS3 as a key regulator of TSH/TSHR-mediated thyroid hormone biosynthesis and proliferation of thyroid follicular cells and uncovers a mechanism by which GLIS3 deficiency causes neonatal hypothyroidism and prevents goiter development. 29083325 2017
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.200 Biomarker disease BEFREE We hypothesize that TSHR activation [TSHR*, elevated thyroid-stimulating hormone, thyroid-stimulating antibodies (TSAB), or activating mutation] influences MSC differentiation, which contributes to body composition changes seen in hypothyroidism or Graves' disease (GD). 28469599 2017
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.200 GeneticVariation disease BEFREE The associations of polymorphisms of TSH receptor and thyroid hormone receptor genes with L-thyroxine treatment in hypothyroid patients. 25079464 2015
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.200 GeneticVariation disease BEFREE Patients with the syndrome of TSH unresponsiveness may have compensated or overt hypothyroidism with a wide spectrum of clinical and morphological alterations depending on the degree of impairment of TSH-receptor (TSH-R) function. 23332130 2013
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.200 GeneticVariation disease BEFREE These results suggest that P556L TSHR has a dominant negative effect on TSHR(W) by impairing polymer to monomer dissociation, which decreases TSH responsiveness and induces hypothyroidism in C.RF-Tshr(hyt/wild) mice. 22916127 2012
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.200 GeneticVariation disease BEFREE Homozygotes for the mutant TSHR and a compound heterozygote for the TPO mutations presented frank hypothyroidism. 21490078 2011
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.200 AlteredExpression disease BEFREE Two heterohybridoma cell lines secreting TSHR autoantibodies were isolated using standard techniques from the lymphocytes of a patient with hypothyroidism and high levels of TSHR autoantibodies (160 units/l by inhibition of TSH binding). 20550534 2010
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.200 GeneticVariation disease BEFREE Thyroid hormone replacement therapy should be considered based on biological data in patients with hyperthyrotropinemia who have a homozygous R450H mutation of the TSHR gene even if they do not exhibit obvious hypothyroidism in infancy. 19506388 2009
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.200 GeneticVariation disease BEFREE Here, we took advantage of the description of a new inactivating TSHR mutation (Q489H) in two brothers with hypothyroidism, to precise maturation, intracellular trafficking, exporting pathways, and activation mechanisms of this receptor. 18927215 2009
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.200 GeneticVariation disease BEFREE Functional studies of new TSH receptor (TSHr) mutations identified in patients affected by hypothyroidism or isolated hyperthyrotrophinaemia. 18727713 2009
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.200 GeneticVariation disease LHGDN Identification of TSH receptor mutations in three families with resistance to TSH. 17697008 2007
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.200 Biomarker disease BEFREE Hyperthyroidism in Graves' disease is caused by thyroid-stimulating autoantibodies to the TSH receptor (TSHR), whereas hypothyroidism in Hashimoto's thyroiditis is associated with thyroid peroxidase and thyroglobulin autoantibodies. 17823263 2007
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.200 GeneticVariation disease LHGDN Clinical significance of heterozygous carriers associated with compensated hypothyroidism in R450H, a common inactivating mutation of the thyrotropin receptor gene in Japanese. 17526952 2006
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.200 Biomarker disease BEFREE These models provide unique insight into several aspects of Graves' disease: 1) manipulating immunity toward Th1 or Th2 cytokines enhances or suppresses hyperthyroidism in different models, perhaps reflecting human disease heterogeneity; 2) the role of TSHR cleavage and A subunit shedding in immunity leading to thyroid-stimulating antibodies (TSAbs); and 3) epitope spreading away from TSAbs and toward TSH-blocking antibodies in association with increased TSHR antibody titers (as in rare hypothyroid patients). 15827111 2005
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.200 AlteredExpression disease BEFREE Hypothyroidism in thyroid transcription factor 1 haploinsufficiency is caused by reduced expression of the thyroid-stimulating hormone receptor. 12907760 2003
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.200 GeneticVariation disease LHGDN Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism. 12050212 2002