TSHR, thyroid stimulating hormone receptor, 7253

N. diseases: 250; N. variants: 77
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases
0.400 Biomarker group BEFREE We report here a case of alemtuzumab-induced thyroid disease in a female patient who showed a phase of thyrotoxicosis with positive anti-thyroglobulin (anti-Tg) and anti-thyroid peroxidase (TPO) antibodies, but a negative TSH receptor antibody, spontaneously followed by hypothyroidism. 30968726 2019
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases
0.400 GeneticVariation group BEFREE Among the 21 candidate SNPs, no difference was found among areas with various water iodine, whereas, TG (rs2252696), TSHR (rs4903957), CTLA-4 (rs231775), CAPZB (rs1472565), PDE4D (rs27178), and HLA (rs2517532) were significantly associated with various subclinical thyroid diseases; in particular, the PDE4D (rs27178), ad hoc TT allele, was associated with all examined subclinical thyroid diseases. 30485936 2019
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases
0.400 Biomarker group BEFREE Obtained TRAb levels were compared with a second-generation TRAb assay employing bovine TSH and a third-generation assay with human mAb M22 as TSHR-binding reagents by investigating 89 patients with GD, 56 with Hashimoto's thyroiditis (HT), 73 with non-autoimmune thyroid diseases, 17 with rheumatoid arthritis, and 100 healthy subjects. 30684216 2018
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases
0.400 GeneticVariation group BEFREE Analysis of chosen polymorphisms rs2476601 a/G - PTPN22, rs1990760 C/T - IFIH1, rs179247 a/G - TSHR in pathogenesis of autoimmune thyroid diseases in children. 29973096 2018
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases
0.400 Biomarker group BEFREE Functional TSH receptor antibodies in children with autoimmune thyroid diseases. 29372654 2018
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases
0.400 AlteredExpression group BEFREE Thyroid-stimulating hormone receptor was more highly expressed in the OLP lesions of patients with thyroid disease than in the healthy oral mucosa. 29500871 2018
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases
0.400 AlteredExpression group BEFREE Abnormal thyroid function studies and an elevated thyroid-stimulating hormone receptor antibody level confirmed the diagnosis of Graves thyrotoxicosis. 26181502 2017
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases
0.400 AlteredExpression group BEFREE No significant differences in TSHR mRNA were found according to history of thyroid disease. 24844218 2014
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases
0.400 Biomarker group BEFREE We reviewed thyroid disease management of patients younger than 18 years with thyrotropin receptor messenger RNA measurements identified from a prospective, institutional review board-approved registry during 2008 to 2010. 22244412 2012
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases
0.400 GeneticVariation group BEFREE The objective of the study was to define a relation of the clinical appearance and the in vitro activity (IVA) of the TSHR mutations described by several authors for these thyroid disorders. 21190443 2011
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases
0.400 GeneticVariation group BEFREE These results suggest that the polymorphisms (polymorphism in intron 1 at 81 bp upstream of exon 2; polymorphism in intron 4 at 135 bp upstream of exon 5; polymorphism in intron 4 at 365 bp upstream of exon 5; polymorphism in intron 5 at 69 bp upstream of exon 6; means polymorphism in intron 6 at 13 bp downstream of exon 6; polymorphism in intron 6 at 187 bp upstream of exon 7; E7+16: polymorphism in 16 bp of exon 7; polymorphism in 40 bp of exon 8) of the TSHR gene may not contribute to the pathogenesis of thyroid diseases. 21830127 2011
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases
0.400 AlteredExpression group BEFREE The reference range and applications for TSHR mRNA were previously defined from 663 samples from patients with normal, benign, and malignant thyroid disease. 20881771 2010
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases
0.400 Biomarker group BEFREE Involvement of functional polymorphisms in the TNFA gene in the pathogenesis of autoimmune thyroid diseases and production of anti-thyrotropin receptor antibody. 19250279 2009
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases
0.400 GeneticVariation group BEFREE Several mutations of the TSH-receptor gene have been described in a variety of thyroid diseases. 19492584 2009
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases
0.400 GeneticVariation group BEFREE The prevalence of a positive family history of thyroid diseases was 1.9-fold higher in patients with nonsynonymous mutations in the TSH-R gene than in patients without any mutation (80 vs. 42%; P = 0.03). 19417038 2009
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases
0.400 GeneticVariation group BEFREE However, the clinical spectrum of thyroid abnormalities due to mutant TSHRs is wide and ranges from severe hypoplasia to an almost normal sized and structured thyroid gland. 16320156 2005
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases
0.400 AlteredExpression group BEFREE Detection of thyrotropin-receptor messenger ribonucleic acid (mRNA) and thyroglobulin mRNA transcripts in peripheral blood of patients with thyroid disease: sensitive and specific markers for thyroid cancer. 15292293 2004
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases
0.400 Biomarker group BEFREE Germline variation in Tg (thyroglobulin) and TSHR (thyroid stimulating hormone receptor) confers an increased risk of benign thyroid disorders. 14633662 2004
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases
0.400 GeneticVariation group BEFREE This can be shown by naturally existing germline and somatic mutations in the TSHR gene that cause various types of nonautoimmune and hereditary thyroid disease. 14654350 2003
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases
0.400 Biomarker group BEFREE The TSH receptor and its role in thyroid disease. 11577986 2001
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases
0.400 GeneticVariation group BEFREE Lack of association of nonautoimmune hyperfunctioning thyroid disorders and a germline polymorphism of codon 727 of the human thyrotropin receptor in a European Caucasian population. 10946859 2000
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases
0.400 GeneticVariation group BEFREE Gain of function and loss of function mutations of the TSH receptor have been implicated in the pathogenesis of various thyroid diseases. 10698593 1999
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases
0.400 Biomarker group BEFREE The aim of this study was to examine whether subacute thyroiditis triggers TSH receptor antibody-associated thyroid disorders. 9640411 1998
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases
0.400 Biomarker group BEFREE First evidence for the role of TSH receptor defects in the pathogenesis of congenital thyroid disorders was elucidated by the presence of activating germline mutations leading to congenital hyperthyroidism (Duprez et al., 1994). 8981017 1996
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases
0.400 AlteredExpression group BEFREE TSH-receptor expression and human thyroid disease: relation to clinical, endocrine, and molecular thyroid parameters. 9001192 1996