THRA, thyroid hormone receptor alpha, 7067

N. diseases: 124; N. variants: 12
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs62065216
rs62065216
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease 		A 0.700 GeneticVariation GWASCAT Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations. 30804561 2019
dbSNP: rs7502233
rs7502233
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs7502233
rs7502233
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0427460
Disease:
Red cell distribution width determination 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2230701
rs2230701
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C1305855
Disease:
Body mass index 		C 0.700 GeneticVariation GWASCAT A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci. 30108127 2018
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: rs746765465
rs746765465
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations. 27144938 2016
dbSNP: rs746765465
rs746765465
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations. 27144938 2016
dbSNP: rs746765465
rs746765465
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation 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: C3280817
Disease:
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 		0.700 GeneticVariation UNIPROT 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 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: C3280817
Disease:
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 		0.700 GeneticVariation UNIPROT A Novel Mutation in THRA Gene Associated With an Atypical Phenotype of Resistance to Thyroid Hormone. 26037512 2015
dbSNP: rs746765465
rs746765465
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA). 25670821 2015
dbSNP: rs746765465
rs746765465
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR A Novel Mutation in THRA Gene Associated With an Atypical Phenotype of Resistance to Thyroid Hormone. 26037512 2015
dbSNP: rs746765465
rs746765465
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR A Novel Mutation in THRA Gene Associated With an Atypical Phenotype of Resistance to Thyroid Hormone. 26037512 2015
dbSNP: rs746765465
rs746765465
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA). 25670821 2015
dbSNP: rs746765465
rs746765465
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR A Novel Mutation in THRA Gene Associated With an Atypical Phenotype of Resistance to Thyroid Hormone. 26037512 2015
dbSNP: rs746765465
rs746765465
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation 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: C3280817
Disease:
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 		0.700 GeneticVariation UNIPROT 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: rs746765465
rs746765465
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation 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: rs746765465
rs746765465
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation 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: rs746765465
rs746765465
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation 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