THRA, thyroid hormone receptor alpha, 7067

N. diseases: 124; N. variants: 12
Disease: Dysmorphic features ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555545033
rs1555545033
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations. 27144938 2016
dbSNP: rs1555545033
rs1555545033
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR A Novel Mutation in THRA Gene Associated With an Atypical Phenotype of Resistance to Thyroid Hormone. 26037512 2015
dbSNP: rs1555545033
rs1555545033
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA). 25670821 2015
dbSNP: rs1555545033
rs1555545033
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)α1 and TRα2: clinical, biochemical, and genetic analyses of three related patients. 24969835 2014
dbSNP: rs1555545033
rs1555545033
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Clinical phenotype of a new type of thyroid hormone resistance caused by a mutation of the TRα1 receptor: consequences of LT4 treatment. 23633213 2013
dbSNP: rs1555545033
rs1555545033
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR An adult female with resistance to thyroid hormone mediated by defective thyroid hormone receptor α. 23940126 2013
dbSNP: rs1555545033
rs1555545033
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Clinical phenotype and mutant TRα1. 22494134 2012
dbSNP: rs1555545033
rs1555545033
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Evolution and functional impact of rare coding variation from deep sequencing of human exomes. 22604720 2012
dbSNP: rs1555545033
rs1555545033
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR A mutation in the thyroid hormone receptor alpha gene. 22168587 2012