TG, thyroglobulin, 7038
N. diseases: 240; N. variants: 43
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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0.700 | GeneticVariation | UNIPROT | Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability. | 27305979 | 2016 | |||||||
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0.700 | GeneticVariation | UNIPROT | The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation. | 19509106 | 2009 | |||||||
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0.700 | GeneticVariation | UNIPROT | Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene. | 17532758 | 2007 | |||||||
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0.700 | GeneticVariation | UNIPROT | Thyroglobulin gene mutations producing defective intracellular transport of thyroglobulin are associated with increased thyroidal type 2 iodothyronine deiodinase activity. | 17244789 | 2007 | |||||||
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0.700 | GeneticVariation | UNIPROT | A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels. | 16477365 | 2006 | |||||||
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0.700 | GeneticVariation | UNIPROT | 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 |