TSHR, thyroid stimulating hormone receptor, 7253

N. diseases: 250; N. variants: 77
Disease: Hyperactive behavior ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.120 GeneticVariation phenotype 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
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.120 Biomarker phenotype BEFREE We identify phenotypes associated with human brittle bone disease and thyroid stimulating hormone receptor hyperactivity. 28884682 2017
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.120 Biomarker phenotype HPO