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 CLINVAR
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 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 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 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 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 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 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 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 Different mutations in the c-erbA beta gene are likely responsible for the variant phenotypes of thyroid hormone resistance in kindreds B and D. 2153155 1990
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 GeneticVariation disease BEFREE Thyroid hormone resistance without mutations in thyroid hormone receptor beta. 17534237 2007
Entrez Id: 7068
Gene Symbol: THRB
THRB
0.900 GeneticVariation disease BEFREE Periodically hyperthyroid phenotype in thyroid hormone resistance is associated with mutation D322N in the thyroid hormone receptor beta gene: transcriptional properties of the mutant and the role of retinoid X receptor. 8981016 1996
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 Enhanced levels of wild-type versus mutant thyroid hormone receptor beta 1 messenger RNA in fibroblasts from heterozygotes of kindred S with thyroid hormone resistance. 8837325 1996
Entrez Id: 7068
Gene Symbol: THRB
THRB
0.900 GeneticVariation disease BEFREE Characterization of a novel mutant human thyroid hormone receptor beta in a family with hereditary thyroid hormone resistance. 8435883 1993
Entrez Id: 7068
Gene Symbol: THRB
THRB
0.900 GeneticVariation disease BEFREE Rapid localization of mutations in the thyroid hormone receptor-beta gene by denaturing gradient gel electrophoresis in 18 families with thyroid hormone resistance. 1548332 1992
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 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 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 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 Mutations of THRB cause a human genetic disease, thyroid hormone resistance syndrome (RTH). 15860414 2005
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.400 GeneticVariation disease BEFREE Resistance to thyrotropin (TSH) (RTSH; defined by elevated TSH and a normal or hypoplastic thyroid gland) can be caused by mutations in genes encoding the TSH receptor and PAX8, and it has been linked to a locus on chromosome 15. 27821020 2017
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.400 GeneticVariation disease BEFREE Nonpolymorphic alterations in the TSHR gene are commonly associated with isolated NAHT in young patients, thus configuring partial TSH resistance as the most frequent inheritable cause of isolated NAHT. 22049173 2012
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.400 GeneticVariation disease BEFREE Complete TSH resistance due to biallelic LOF TSHR mutations must be suspected in all patients with severe not syndromic CH and severe thyroid hypoplasia diagnosed at birth by neonatal screening. 23154162 2013