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: rs746765465
rs746765465
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR An adult female with resistance to thyroid hormone mediated by defective thyroid hormone receptor α. 23940126 2013
dbSNP: rs746765465
rs746765465
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR An adult female with resistance to thyroid hormone mediated by defective thyroid hormone receptor α. 23940126 2013
dbSNP: rs746765465
rs746765465
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation 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: rs746765465
rs746765465
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation 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: rs746765465
rs746765465
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation 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: rs746765465
rs746765465
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation 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: C3280817
Disease:
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 		0.700 GeneticVariation UNIPROT A mutation in the thyroid hormone receptor alpha gene. 22168587 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
dbSNP: rs746765465
rs746765465
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Evolution and functional impact of rare coding variation from deep sequencing of human exomes. 22604720 2012
dbSNP: rs746765465
rs746765465
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Clinical phenotype and mutant TRα1. 22494134 2012
dbSNP: rs746765465
rs746765465
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR A mutation in the thyroid hormone receptor alpha gene. 22168587 2012
dbSNP: rs746765465
rs746765465
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Evolution and functional impact of rare coding variation from deep sequencing of human exomes. 22604720 2012
dbSNP: rs746765465
rs746765465
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR A mutation in the thyroid hormone receptor alpha gene. 22168587 2012
dbSNP: rs746765465
rs746765465
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Clinical phenotype and mutant TRα1. 22494134 2012
dbSNP: rs746765465
rs746765465
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR A mutation in the thyroid hormone receptor alpha gene. 22168587 2012
dbSNP: rs746765465
rs746765465
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Clinical phenotype and mutant TRα1. 22494134 2012
dbSNP: rs746765465
rs746765465
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Evolution and functional impact of rare coding variation from deep sequencing of human exomes. 22604720 2012
dbSNP: rs137853162
rs137853162
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C3280817
Disease:
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 		T 0.700 CausalMutation CLINVAR
dbSNP: rs137853163
rs137853163
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C3280817
Disease:
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 		C 0.700 CausalMutation CLINVAR
dbSNP: rs199530759
rs199530759
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C3280817
Disease:
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 		A 0.700 CausalMutation CLINVAR
dbSNP: rs876657394
rs876657394
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C3280817
Disease:
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 		A 0.700 CausalMutation CLINVAR
dbSNP: rs876657395
rs876657395
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C3280817
Disease:
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 		A 0.700 CausalMutation CLINVAR
dbSNP: rs876657396
rs876657396
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C3280817
Disease:
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 		G 0.700 CausalMutation CLINVAR