| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.030 | GeneticVariation | BEFREE | We have studied UPR development in two similar ERSDs, human congenital goiter caused by the C1264R and C1996S mutations in the thyroglobulin (Tg) gene and non-goitrous congenital hypothyroidism in rdw dwarf rats determined by the G2320R Tg mutation. | 15171721 | 2004 |
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|
0.030 | GeneticVariation | BEFREE | Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter. | 10199792 | 1999 |
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|
0.030 | GeneticVariation | BEFREE | Missense mutation (C1263R) in the thyroglobulin gene causes congenital goiter with mild hypothyroidism by impaired intracellular transport. | 9790265 | 1998 |
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|
0.020 | GeneticVariation | BEFREE | We have studied UPR development in two similar ERSDs, human congenital goiter caused by the C1264R and C1996S mutations in the thyroglobulin (Tg) gene and non-goitrous congenital hypothyroidism in rdw dwarf rats determined by the G2320R Tg mutation. | 15171721 | 2004 |
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|
0.020 | GeneticVariation | BEFREE | Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter. | 10199792 | 1999 |
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|
0.010 | GeneticVariation | BEFREE | A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report. | 29720101 | 2018 |
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|
0.010 | GeneticVariation | BEFREE | The aim of the study was to report the genetic screening of 15 patients with CH due to TG gene mutations and to perform functional analysis of the p.A2215D mutation. | 19509106 | 2009 |