| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.020 | GeneticVariation | BEFREE | Phenotype differences of resistance to thyroid hormone in two unrelated families with an identical mutation in the thyroid hormone receptor beta gene (R320C). | 9086567 | 1997 |
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0.020 | GeneticVariation | BEFREE | A new point mutation (C446R) in the thyroid hormone receptor-beta gene of a family with resistance to thyroid hormone. | 8175986 | 1994 |
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0.010 | GeneticVariation | BEFREE | Previously, the p.R316C had only been found in severe RTH cases with homozygous mutations or with an ectopic thyroid. | 25502991 | 2015 |
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0.010 | GeneticVariation | BEFREE | We report the first case of a woman with RTH, which was found to be caused by a missense mutation (V349M) in the TR beta gene. | 18363280 | 2008 |
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0.010 | GeneticVariation | BEFREE | Evaluation of thyroid hormone action in a case of generalized resistance to thyroid hormone with chronic thyroiditis: discovery of a novel heterozygous missense mutation (G347A). | 17827792 | 2007 |
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0.010 | GeneticVariation | BEFREE | A novel point mutation (R243Q) in exon 7 of the c-erbA beta thyroid hormone receptor gene in a family with resistance to thyroid hormone. | 8563471 | 1995 |
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0.010 | GeneticVariation | BEFREE | Low intelligence but not attention deficit hyperactivity disorder is associated with resistance to thyroid hormone caused by mutation R316H in the thyroid hormone receptor beta gene. | 8200958 | 1994 |
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0.010 | GeneticVariation | BEFREE | A point mutation (Ala229 to Thr) in the hinge domain of the c-erbA beta thyroid hormone receptor gene in a family with generalized thyroid hormone resistance. | 1324420 | 1992 |