TSHR, thyroid stimulating hormone receptor, 7253

N. diseases: 250; N. variants: 77
Disease: Hyperthyroidism, Nonautoimmune ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 GeneticVariation disease BEFREE Moreover, sporadic TSH receptor germline mutations have been identified in 3 children with severe congenital nonautoimmune hyperthyroidism. 8981020 1996
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 GeneticVariation disease UNIPROT Premature birth and low birth weight associated with nonautoimmune hyperthyroidism due to an activating thyrotropin receptor gene mutation. 15163335 2004
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 GeneticVariation disease BEFREE However, familial nonautoimmune hyperthyroidism and hot nodules are clearly associated with constitutively activating TSHR germline mutations. 18466076 2008
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 GeneticVariation disease UNIPROT Constitutively activating TSH-receptor mutations as a molecular cause of non-autoimmune hyperthyroidism in childhood. 11127522 2000
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 GeneticVariation disease BEFREE Lack of in vitro constitutive activity for four previously reported TSH receptor mutations identified in patients with nonautoimmune hyperthyroidism and hot thyroid carcinomas. 20846293 2010
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 GeneticVariation disease BEFREE The first activating TSH receptor mutation in transmembrane domain 1 identified in a family with nonautoimmune hyperthyroidism. 11549687 2001
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 GermlineCausalMutation disease ORPHANET A newly discovered TSHR variant (L665F) associated with nonautoimmune hyperthyroidism in an Austrian family induces constitutive TSHR activation by steric repulsion between TM1 and TM7. 24947036 2014
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 GeneticVariation disease UNIPROT Brief report: congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene. 7800007 1995
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 GeneticVariation disease BEFREE Identification of a new thyrotropin receptor germline mutation (Leu629Phe) in a family with neonatal onset of autosomal dominant nonautoimmune hyperthyroidism. 9398746 1997
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 GeneticVariation disease UNIPROT Activating thyrotropin receptor mutations are present in nonadenomatous hyperfunctioning nodules of toxic or autonomous multinodular goiter. 10852462 2000
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 GeneticVariation disease BEFREE Activating mutations of the TSH receptor (TSH-R) have been reported to result in toxic adenomas, multinodular goiters, sporadic neonatal hyperthyroidism, and familial autosomal dominant nonautoimmune hyperthyroidism. 10199795 1999
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 GeneticVariation disease BEFREE Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic thyroid hyperplasia. 8636266 1996
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 GeneticVariation disease UNIPROT A germline mutation of the thyrotropin receptor gene associated with thyrotoxicosis and mitral valve prolapse in a Chinese family. 10199795 1999
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 GeneticVariation disease BEFREE A novel activating mutation in transmembrane helix 6 of the thyrotropin receptor as cause of hereditary nonautoimmune hyperthyroidism. 16756474 2006
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 GeneticVariation disease BEFREE We report a patient in whom a TSHR mutation leads to nonautoimmune hyperthyroidism due to a mutation that constitutively activates the Gs signaling pathway but additionally completely inhibits the Gq/11 pathway. 20501679 2010
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 GeneticVariation disease BEFREE Long-term carbimazole treatment of neonatal nonautoimmune hyperthyroidism due to a new activating TSH receptor gene mutation (Ala428Val). 16260895 2005
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 GeneticVariation disease BEFREE In patients with hereditary nonautoimmune hyperthyroidism a near total thyroidectomy is recommended as the first line treatment to avoid relapses from residual thyroid tissue with the activating TSHR mutation. 9867189 1998
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 GeneticVariation disease UNIPROT Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism. 7920658 1994
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 GeneticVariation disease UNIPROT Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic thyroid hyperplasia. 8636266 1996
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 GeneticVariation disease UNIPROT Novel TSHR germline mutation (Met463Val) masquerading as Graves' disease in a large Welsh kindred with hyperthyroidism. 11201847 2000
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 CausalMutation disease CLINVAR