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: 7204
Gene Symbol: TRIO
TRIO
0.100 CausalMutation disease CLINVAR
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: 7069
Gene Symbol: THRSP
THRSP
0.010 Biomarker disease BEFREE Thyroid Hormone Resistance (RTH) is characterized by the diminished response of thyroid hormone-responsive tissues in varying degrees in association with elevated serum levels of total and free T4 and T3 and inappropriately normal or elevated TSH levels. 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: 7067
Gene Symbol: THRA
THRA
0.230 GeneticVariation disease BEFREE Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA). 25670821 2015
Entrez Id: 780915
Gene Symbol: CHNG3
CHNG3
0.010 Biomarker 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 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: 7849
Gene Symbol: PAX8
PAX8
0.010 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: 7200
Gene Symbol: TRH
TRH
0.020 AlteredExpression disease BEFREE Thyroid hormone resistance was found to be expressed at the level of TRH gene regulation, due to lowered inhibition by mutant TRbeta1-T3 complexes and by their dominant negative effects on wild-type TRbeta1-T3 inhibition. 9827656 1998
Entrez Id: 92595
Gene Symbol: ZNF764
ZNF764
0.010 Biomarker disease BEFREE ZNF764 haploinsufficiency may explain partial glucocorticoid, androgen, and thyroid hormone resistance associated with 16p11.2 microdeletion. 22577170 2012
Entrez Id: 50506
Gene Symbol: DUOX2
DUOX2
0.010 GeneticVariation disease BEFREE DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype. 27821020 2017
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
0.020 GeneticVariation disease BEFREE A genetic and functional GNAS study was undertaken in a boy with morbid obesity (body mass index Z-score of 5 at the age of 3 yr, with a body fat fraction of 40%, which is more than twice normal), TSH resistance, pseudohypoparathyroidism, and a prothrombotic state. 18796523 2008
Entrez Id: 7067
Gene Symbol: THRA
THRA
0.230 GeneticVariation disease BEFREE A novel thyroid hormone receptor alpha gene mutation, clinic characteristics, and follow-up findings in a patient with thyroid hormone resistance. 30747412 2019
Entrez Id: 105371807
Gene Symbol: THRA1/BTR
THRA1/BTR
0.010 GeneticVariation disease BEFREE A novel thyroid hormone receptor alpha gene mutation, clinic characteristics, and follow-up findings in a patient with thyroid hormone resistance. 30747412 2019
Entrez Id: 7201
Gene Symbol: TRHR
TRHR
0.300 Biomarker disease CTD_human A novel mechanism for isolated central hypothyroidism: inactivating mutations in the thyrotropin-releasing hormone receptor gene. 9141550 1997
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 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 Biomarker disease MGD A thyrotoxic skeletal phenotype of advanced bone formation in mice with resistance to thyroid hormone. 12677005 2003
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.100 Biomarker disease BEFREE Alternatively, PHPIb patients predominantly have PTH and sometimes TSH resistance but do not present with AHO features. 22300135 2012
Entrez Id: 7068
Gene Symbol: THRB
THRB
0.900 Biomarker disease MGD An unliganded thyroid hormone receptor causes severe neurological dysfunction. 11274423 2001
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 Biomarker disease GENOMICS_ENGLAND Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism. 24847459 2014
Entrez Id: 7067
Gene Symbol: THRA
THRA
0.230 AlteredExpression disease BEFREE Competitive polymerase chain reaction quantitation of c-erbA beta 1, c-erbA alpha 1, and c-erbA alpha 2 messenger ribonucleic acid levels in normal, heterozygous, and homozygous fibroblasts of kindred S with thyroid hormone resistance. 8408473 1993
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