TSHR, thyroid stimulating hormone receptor, 7253

N. diseases: 250; N. variants: 77
Disease: Primary Hyperthyroidism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714618
Disease: Primary Hyperthyroidism
Primary Hyperthyroidism 		0.320 GeneticVariation disease BEFREE The I630L mutation of the TSHR gene occurs not only at somatic level in toxic thyroid nodules, but also its presence in germline is associated with nonautoimmune primary hyperthyroidism. 20146656 2010
CUI: C3714618
Disease: Primary Hyperthyroidism
Primary Hyperthyroidism 		0.320 Biomarker disease BEFREE Epitopes for > 95% stimulating thyrotropin receptor autoantibodies (TSHRAbs) causally implicated in Graves' disease (Basedow's disease or primary hyperthyroidism) have been identified on on the N-terminal portion of the TSHR extracellular domain, residues 8-165. 14669940 2004
CUI: C3714618
Disease: Primary Hyperthyroidism
Primary Hyperthyroidism 		0.320 Biomarker disease CTD_human A neomutation of the thyroid-stimulating hormone receptor in a severe neonatal hyperthyroidism. 8964822 1996
CUI: C3714618
Disease: Primary Hyperthyroidism
Primary Hyperthyroidism 		0.320 Biomarker disease CTD_human Brief report: congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene. 7800007 1995
CUI: C3714618
Disease: Primary Hyperthyroidism
Primary Hyperthyroidism 		0.320 Biomarker disease CTD_human Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas. 8413627 1993