TG, thyroglobulin, 7038

N. diseases: 240; N. variants: 43
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018022
Disease: Endemic goiter
Endemic goiter
0.170 GeneticVariation disease BEFREE Up to now, 62 inactivating mutations in the TG gene have been identified in patients with congenital goiter and endemic or non-endemic simple goiter. 23164529 2013
CUI: C0018022
Disease: Endemic goiter
Endemic goiter
0.170 GeneticVariation disease BEFREE Mutations in TG gene have been also reported associated with endemic and euthyroid nonendemic simple goiter. 20093166 2010
CUI: C0018022
Disease: Endemic goiter
Endemic goiter
0.170 GeneticVariation disease BEFREE Mutations in the human thyroglobulin gene are associated with congenital goiter or endemic and nonendemic simple goiter. 16870170 2006
CUI: C0018022
Disease: Endemic goiter
Endemic goiter
0.170 GeneticVariation disease BEFREE We have previously demonstrated that some cases of endemic and nonendemic simple goiter are associated with a mutation within exon 10 of the thyroglobulin gene. 11525274 2001
CUI: C0018022
Disease: Endemic goiter
Endemic goiter
0.170 GeneticVariation disease BEFREE To our knowledge, this is the first time that a mutation in the thyroglobulin gene has been described in a patient with endemic simple goiter and further confirms the association between the exon 10 mutation and development of goiter. 8936666 1996
CUI: C0018022
Disease: Endemic goiter
Endemic goiter
0.170 GeneticVariation disease BEFREE Thus, some cases of non-endemic simple goitre are associated with a mutation at the thyroglobulin locus. 8094490 1993
CUI: C0018022
Disease: Endemic goiter
Endemic goiter
0.170 Biomarker disease BEFREE However, unlike normal and endemic-goiter Tg, that had a mean sialic acid content of 7.3 and 5.6 micrograms/mg protein, respectively, the sialic acid concentration of the patients Tg was only 0.3 microgram/mg. 1727828 1992
CUI: C0018022
Disease: Endemic goiter
Endemic goiter
0.170 CausalMutation disease CLINVAR