THRA, thyroid hormone receptor alpha, 7067

N. diseases: 124; N. variants: 12
Disease: Bone Diseases, Developmental ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005941
Disease: Bone Diseases, Developmental
Bone Diseases, Developmental 		0.010 GeneticVariation group 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