|
Weight Gain
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Van Buchem disease
|
0.010 |
Biomarker
|
disease |
BEFREE |
Since thyroid hormones are known to stimulate bone resorption, the THRA1 gene might be involved in the etiology and pathogenesis of van Buchem disease.
|
9463328 |
1998 |
|
Thyroid Neoplasm
|
0.020 |
AlteredExpression
|
disease |
LHGDN |
Less aggressive thyroid cancer was found to be linked to increased thyroid hormone receptor-alpha1 expression and an expanded THRA1 microsatellite.
|
12231529 |
2002 |
|
Thyroid Neoplasm
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
Less aggressive thyroid cancer was found to be linked to increased thyroid hormone receptor-alpha1 expression and an expanded THRA1 microsatellite.
|
12231529 |
2002 |
|
Thyroid Neoplasm
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
No significant difference in the THRA1 allele distribution between patients and controls was found, although short alleles (<128 bp) might have some protective effect on thyroid cancer risk of carriers (odds ratio, 0.50; 95% confidence interval, 0.22-1.13; P = 0.094).
|
15767343 |
2005 |
|
Thyroid Hormone Resistance Syndrome
|
0.230 |
GeneticVariation
|
disease |
BEFREE |
A novel thyroid hormone receptor alpha gene mutation, clinic characteristics, and follow-up findings in a patient with thyroid hormone resistance.
|
30747412 |
2019 |
|
Thyroid Hormone Resistance Syndrome
|
0.230 |
GeneticVariation
|
disease |
BEFREE |
Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA).
|
25670821 |
2015 |
|
Thyroid Hormone Resistance Syndrome
|
0.230 |
Biomarker
|
disease |
MGD |
CRISPR/Cas9 Editing of the Mouse Thra Gene Produces Models with Variable Resistance to Thyroid Hormone.
|
29205102 |
2018 |
|
Thyroid Hormone Resistance Syndrome
|
0.230 |
AlteredExpression
|
disease |
BEFREE |
Competitive polymerase chain reaction quantitation of c-erbA beta 1, c-erbA alpha 1, and c-erbA alpha 2 messenger ribonucleic acid levels in normal, heterozygous, and homozygous fibroblasts of kindred S with thyroid hormone resistance.
|
8408473 |
1993 |
|
Thyroid Diseases
|
0.010 |
AlteredExpression
|
group |
BEFREE |
We studied thyroid hormone receptor alpha (TRa) expression in 82 samples from 41 women with ductal invasive breast cancer and no thyroid disease.
|
28583788 |
2017 |
|
Thyroid carcinoma
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
No significant difference in the THRA1 allele distribution between patients and controls was found, although short alleles (<128 bp) might have some protective effect on thyroid cancer risk of carriers (odds ratio, 0.50; 95% confidence interval, 0.22-1.13; P = 0.094).
|
15767343 |
2005 |
|
Thyroid carcinoma
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
Less aggressive thyroid cancer was found to be linked to increased thyroid hormone receptor-alpha1 expression and an expanded THRA1 microsatellite.
|
12231529 |
2002 |
|
Thrombasthenia
|
0.010 |
Biomarker
|
disease |
BEFREE |
Prenatal diagnosis of Glanzmann thrombasthenia using the polymorphic markers BRCA1 and THRA1 on chromosome 17.
|
9695977 |
1998 |
|
Stomach Carcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Alterations of thyroid hormone receptor alpha gene: frequency and association with Nm23 protein expression and metastasis in gastric cancer.
|
11741739 |
2002 |
|
Sporadic Breast Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
We have thus excluded THRA1 as a commonly mutated sporadic breast cancer tumor suppressor gene and as the BRCA1 gene.
|
7511052 |
1994 |
|
Somnolence
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Small cell carcinoma of lung
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The ERBA beta gene codes for a DNA-binding thyroid hormone receptor (THR) and maps to chromosome 3p21-p25, overlapping a 3p deletion characterizing small-cell lung carcinoma (SCLC).
|
2536219 |
1989 |
|
Sleep disturbances
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Sleep Disorders
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
|
Skeletal dysplasia
|
0.320 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations.
|
27144938 |
2016 |
|
Skeletal dysplasia
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous THRA mutations occurring de novo were identified in a 17-year-old male (patient P1; c.788C>T, p.A263V mutation) investigated for mild pubertal delay and in a 15-year-old male (patient P2; c.821T>C, p.L274P mutation) with short stature (0.4th centile), skeletal dysplasia, dysmorphic facies, and global developmental delay.
|
28471274 |
2017 |
|
Skeletal dysplasia
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
Thyroid hormone receptor α mutation causes a severe and thyroxine-resistant skeletal dysplasia in female mice.
|
24914936 |
2014 |
|
Schizophrenia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
To investigate this possibility, regions of likely functional significance (all coding exons and flanking splice junctions) of the ERalpha and TRalpha genes were scanned in patients with schizophrenia (113), along with pilot studies in patients with bipolar illness (BPI), puerperal psychosis, autism, attention-deficit hyperactivity disorder (ADHD), and alcoholism.
|
11378852 |
2001 |
|
Relative macrocephaly
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Red cell distribution width determination
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |