Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 3
0.020 GeneticVariation disease BEFREE 9.09% (12/132) mutations related to GNAS, which was associated with thyrotropin resistance. 30022773 2018
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 3
0.020 GeneticVariation disease BEFREE In vitro effects of the mutations on cAMP production and TSH binding were investigated in COS7 cells. cAMP production was evaluated by transfecting a cAMP response element (CRE)-luciferase reporter with pSVL-TSHR and pSVK3-GNAS vectors. 21186955 2011