Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 105371807
Gene Symbol: THRA1/BTR
THRA1/BTR
0.070 GeneticVariation disease BEFREE Dominant-negative mutations of TRα cause resistance to thyroid hormone alpha (RTHα; OMIM 614450), characterized by excessive repression of T3 target genes leading to delayed skeletal development, growth retardation, and bone dysplasia. 30760120 2019
Entrez Id: 105371807
Gene Symbol: THRA1/BTR
THRA1/BTR
0.070 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
0.070 GeneticVariation disease BEFREE A severe phenotype characteristic of hypothyroidism occurs in children with resistance to thyroid hormone due to mutations affecting THRA encoding thyroid hormone receptor α (TRα). 28853052 2018
Entrez Id: 105371807
Gene Symbol: THRA1/BTR
THRA1/BTR
0.070 GeneticVariation disease BEFREE Resistance to Thyroid Hormone due to Heterozygous Mutations in Thyroid Hormone Receptor Alpha. 28527577 2017
Entrez Id: 105371807
Gene Symbol: THRA1/BTR
THRA1/BTR
0.070 Biomarker disease BEFREE Anemia in Patients With Resistance to Thyroid Hormone α: A Role for Thyroid Hormone Receptor α in Human Erythropoiesis. 28911146 2017
Entrez Id: 105371807
Gene Symbol: THRA1/BTR
THRA1/BTR
0.070 GeneticVariation disease BEFREE Recently, the first patients with resistance to thyroid hormone alpha (RTHα) due to inactivating mutations in the thyroid hormone receptor alpha (TRα) were identified. 26782358 2016
Entrez Id: 105371807
Gene Symbol: THRA1/BTR
THRA1/BTR
0.070 GeneticVariation disease BEFREE Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor alpha or beta genes may be due to a defective cofactor. 8954015 1996