THRA, thyroid hormone receptor alpha, 7067

N. diseases: 124; N. variants: 12
Disease: Macrocephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.310 GeneticVariation disease BEFREE Using whole exome sequencing and subsequent Sanger sequencing, we identified truncating and missense mutations in the THRA gene in five of six individuals and describe a distinct and consistent phenotype of mild hypothyroidism (growth retardation, relatively high birth length and weight, mild-to-moderate mental retardation, mild skeletal dysplasia and constipation), specific facial features (round, somewhat coarse and flat face) and macrocephaly. 25670821 2015
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.310 Biomarker disease GENOMICS_ENGLAND Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations. 27144938 2016