THRA, thyroid hormone receptor alpha, 7067

N. diseases: 124; N. variants: 12
Disease: Skeletal dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.320 GeneticVariation disease BEFREE Thyroid hormone receptor α mutation causes a severe and thyroxine-resistant skeletal dysplasia in female mice. 24914936 2014
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.320 Biomarker disease GENOMICS_ENGLAND Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations. 27144938 2016
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.320 GeneticVariation disease BEFREE Heterozygous THRA mutations occurring de novo were identified in a 17-year-old male (patient P1; c.788C>T, p.A263V mutation) investigated for mild pubertal delay and in a 15-year-old male (patient P2; c.821T>C, p.L274P mutation) with short stature (0.4th centile), skeletal dysplasia, dysmorphic facies, and global developmental delay. 28471274 2017