THRA, thyroid hormone receptor alpha, 7067

N. diseases: 124; N. variants: 12
Disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 ×
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: 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: 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: 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: 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