Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7068
Gene Symbol: THRB
THRB
0.900 GeneticVariation disease BEFREE Identification of a novel mutation in the thyroid hormone receptor β gene that causes thyroid hormone resistance syndrome: A case report. 31702019 2019
Entrez Id: 7068
Gene Symbol: THRB
THRB
0.900 GeneticVariation disease BEFREE Role of Leucine 341 in Thyroid Hormone Receptor Beta Revealed by a Novel Mutation Causing Thyroid Hormone Resistance. 30362879 2018
Entrez Id: 7068
Gene Symbol: THRB
THRB
0.900 GeneticVariation disease BEFREE We present 1 pedigree of THRS with heterozygous A317T mutation in THRβ gene in the proband and his mother, which is the first reported mutation in Chinese and provides a comprehensive review of available literature. 27537566 2016
Entrez Id: 7068
Gene Symbol: THRB
THRB
0.900 Biomarker disease GENOMICS_ENGLAND Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism. 24847459 2014
Entrez Id: 7068
Gene Symbol: THRB
THRB
0.900 GeneticVariation disease BEFREE The first case of association between postpartum thyroiditis and thyroid hormone resistance in an Italian patient showing a novel p.V283A THRB mutation. 23134553 2013
Entrez Id: 7068
Gene Symbol: THRB
THRB
0.900 GeneticVariation disease BEFREE To document an infant with a cone photoreceptor disorder associated with severe thyroid hormone resistance due to compound heterozygosity in the thyroid hormone receptor beta 2 (TRβ2) encoding gene THRβ2. 22551329 2012
Entrez Id: 7068
Gene Symbol: THRB
THRB
0.900 GeneticVariation disease BEFREE FT4 estimation by equilibrium dialysis excluded analytical interference, and molecular analysis for the thyroid hormone receptor β gene associated with thyroid hormone resistance was negative. 21058937 2011
Entrez Id: 7068
Gene Symbol: THRB
THRB
0.900 Biomarker disease MGD A thyroid hormone receptor mutation that dissociates thyroid hormone regulation of gene expression in vivo. 19439650 2009
Entrez Id: 7068
Gene Symbol: THRB
THRB
0.900 GeneticVariation disease LHGDN Thyroid hormone receptor beta gene mutation (P453A) in a family producing resistance to thyroid hormone. 18561095 2009
Entrez Id: 7068
Gene Symbol: THRB
THRB
0.900 GeneticVariation disease BEFREE A novel mutation of thyroid hormone receptor beta (I431V) impairs corepressor release, and induces thyroid hormone resistance syndrome. 19169485 2008
Entrez Id: 7068
Gene Symbol: THRB
THRB
0.900 GeneticVariation disease LHGDN This insertion mutation, specifically the insertion of a cytosine at nucleotide 1358 of the THRB gene, is, to the best of our knowledge, the first such mutation reported among RTH patients in Korea. 17596672 2007
Entrez Id: 7068
Gene Symbol: THRB
THRB
0.900 GeneticVariation disease BEFREE Thyroid hormone resistance without mutations in thyroid hormone receptor beta. 17534237 2007
Entrez Id: 7068
Gene Symbol: THRB
THRB
0.900 Biomarker disease MGD Hyperactivity, impaired learning on a vigilance task, and a differential response to methylphenidate in the TRbetaPV knock-in mouse. 15983791 2005
Entrez Id: 7068
Gene Symbol: THRB
THRB
0.900 Biomarker disease MGD Contrasting skeletal phenotypes in mice with an identical mutation targeted to thyroid hormone receptor alpha1 or beta. 16051666 2005
Entrez Id: 7068
Gene Symbol: THRB
THRB
0.900 GeneticVariation disease BEFREE DNA-based diagnosis of thyroid hormone resistance syndrome: a novel THRB mutation associated with mild resistance to thyroid hormone. 15913586 2005
Entrez Id: 7068
Gene Symbol: THRB
THRB
0.900 GeneticVariation disease LHGDN Tissue responses to thyroid hormone in a kindred with resistance to thyroid hormone harboring a commonly occurring mutation in the thyroid hormone receptor beta gene (P453T). 16099238 2005
Entrez Id: 7068
Gene Symbol: THRB
THRB
0.900 GeneticVariation disease BEFREE Mutations of THRB cause a human genetic disease, thyroid hormone resistance syndrome (RTH). 15860414 2005
Entrez Id: 7068
Gene Symbol: THRB
THRB
0.900 GeneticVariation disease BEFREE The novel missense mutation methionine 442 threonine in the thyroid hormone receptor beta causes thyroid hormone resistance: a case report. 15031774 2004
Entrez Id: 7068
Gene Symbol: THRB
THRB
0.900 GeneticVariation disease BEFREE Thyroid hormone resistance in the heart: role of the thyroid hormone receptor beta isoform. 14684607 2004
Entrez Id: 7068
Gene Symbol: THRB
THRB
0.900 Biomarker disease MGD Thyroid hormone action in the absence of thyroid hormone receptor DNA-binding in vivo. 12925699 2003
Entrez Id: 7068
Gene Symbol: THRB
THRB
0.900 GeneticVariation disease BEFREE In almost all cases it is due to different mutations in only one allele of the thyroid hormone receptor beta gene which blocks the action of normal allele thus producing dominantly inherited RTH. 16444158 2003
Entrez Id: 7068
Gene Symbol: THRB
THRB
0.900 Biomarker disease MGD A thyrotoxic skeletal phenotype of advanced bone formation in mice with resistance to thyroid hormone. 12677005 2003
Entrez Id: 7068
Gene Symbol: THRB
THRB
0.900 Biomarker disease MGD Knock-in mouse model for resistance to thyroid hormone (RTH): an RTH mutation in the thyroid hormone receptor beta gene disrupts cochlear morphogenesis. 12382103 2002
Entrez Id: 7068
Gene Symbol: THRB
THRB
0.900 Biomarker disease MGD Retardation of cochlear maturation and impaired hair cell function caused by deletion of all known thyroid hormone receptors. 11739587 2001
Entrez Id: 7068
Gene Symbol: THRB
THRB
0.900 Biomarker disease MGD An unliganded thyroid hormone receptor causes severe neurological dysfunction. 11274423 2001