Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7038
Gene Symbol: TG
TG
0.600 GeneticVariation disease BEFREE 167 different mutations, many of which are newly discovered, are now known to exist in TG (encoding human thyroglobulin) that can lead to defective thyroid hormone synthesis, resulting in congenital hypothyroidism. 30886364 2019
Entrez Id: 7038
Gene Symbol: TG
TG
0.600 Biomarker disease BEFREE We present a patient with congenital hypothyroidism (CH) who presented in newborn screening with elevated serum thyroid-stimulating hormone (TSH), decreased free thyroxine (fT4) and increased thyroglobulin (Tg) concentrations. 31541602 2019
Entrez Id: 7038
Gene Symbol: TG
TG
0.600 Biomarker disease BEFREE The ChEL domain is critical for protein folding and patients with CH due to misfolded TG may present without low serum TG despite the TG gene mutations. 29720101 2018
Entrez Id: 7038
Gene Symbol: TG
TG
0.600 GeneticVariation disease BEFREE Sequencing of other CH candidate genes in the 57 patients revealed 2 thyroglobulin (TG) variants. 27108200 2016
Entrez Id: 7038
Gene Symbol: TG
TG
0.600 GeneticVariation disease BEFREE A combination of nonsense mutations, frameshift mutations, splice site mutations, and missense mutations in Tg occurs spontaneously to cause congenital hypothyroidism and thyroidal ER stress. 26595189 2016
Entrez Id: 7038
Gene Symbol: TG
TG
0.600 GeneticVariation disease BEFREE The prevalence of CH due to TG gene defect in Chinese population was estimated to be approximately 1/101,000. 26777470 2016
Entrez Id: 7038
Gene Symbol: TG
TG
0.600 Biomarker disease GENOMICS_ENGLAND Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ. 27525530 2016
Entrez Id: 7038
Gene Symbol: TG
TG
0.600 GeneticVariation disease BEFREE The aim of the present study was to identify new TG mutations in a patient of Vietnamese origin affected by congenital hypothyroidism, goiter and low levels of serum TG. 25633667 2015
Entrez Id: 7038
Gene Symbol: TG
TG
0.600 GeneticVariation disease BEFREE Novel truncating thyroglobulin gene mutations associated with congenital hypothyroidism. 23949896 2014
Entrez Id: 7038
Gene Symbol: TG
TG
0.600 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
Entrez Id: 7038
Gene Symbol: TG
TG
0.600 AlteredExpression disease BEFREE The aim of this study was to perform the genetic analysis of the TG gene in two sisters born from consanguineus parents and affected by CH and low serum TG levels. 23455760 2013
Entrez Id: 7038
Gene Symbol: TG
TG
0.600 GeneticVariation disease BEFREE For example, misfolding of insulin can result in autosomal dominant mutant INS gene-induced diabetes of youth, and misfolding of thyroglobulin can result in autosomal recessive congenital hypothyroidism with deficient thyroglobulin. 23722904 2013
Entrez Id: 7038
Gene Symbol: TG
TG
0.600 GeneticVariation disease BEFREE Our study provides further evidence that mutations in the TG gene cause congenital goiter and hypothyroidism, demonstrates genetic heterogeneity of the mutation, and increases our understanding of phenotype-genotype correlations in congenital hypothyroidism. 22784463 2012
Entrez Id: 7038
Gene Symbol: TG
TG
0.600 GeneticVariation disease BEFREE Two novel mutations in the thyroglobulin gene as cause of congenital hypothyroidism: identification a cryptic donor splice site in the exon 19. 21958696 2012
Entrez Id: 7038
Gene Symbol: TG
TG
0.600 GeneticVariation disease BEFREE This is the case for the thyroglobulin mutations linked to congenital hypothyroidism. 23035660 2012
Entrez Id: 7038
Gene Symbol: TG
TG
0.600 GeneticVariation disease BEFREE Mutations in the TG gene lead to permanent congenital hypothyroidism. 21372558 2011
Entrez Id: 7038
Gene Symbol: TG
TG
0.600 AlteredExpression disease BEFREE Further diagnostic approaches, such as ultrasonography, scintigraphy and measurement of thyroglobulin levels, to determine the subtype of congenital hypothyroidism, should not delay initiation of treatment. 22009163 2011
Entrez Id: 7038
Gene Symbol: TG
TG
0.600 Biomarker disease BEFREE This dyshormonogenesis displays a wide phenotype variation and is characterized usually by: the presence of congenital goiter or goiter appearing shortly after birth, high (131)I uptake, negative perchlorate discharge test, low serum TG and elevated serum TSH with simultaneous low serum T(4) and low, normal or high serum T(3). 20093166 2010
Entrez Id: 7038
Gene Symbol: TG
TG
0.600 GeneticVariation disease BEFREE By incorporating the R451C mutation found in neuroligin (NLGN) and associated with autism and the thyroglobulin G2320R (G221R in NLGN) mutation responsible for congenital hypothyroidism into NLGN3, we show that mutations in the alpha/beta-hydrolase fold domain influence folding and biosynthetic processing of neuroligin3 as determined by in vitro susceptibility to proteases, glycosylation processing, turnover, and processing rates. 20615874 2010
Entrez Id: 7038
Gene Symbol: TG
TG
0.600 GeneticVariation disease BEFREE To reveal new aspects of thyroglobulin pathophysiology through clinical, cellular, molecular, and genetic studies in a family presenting with CH due to TG mutations from Galicia, an iodine-deficient area of Spain. 20410234 2010
Entrez Id: 7038
Gene Symbol: TG
TG
0.600 Biomarker disease BEFREE We describe the clinical, biochemical, and molecular findings of a cohort of Argentinean patients with congenital hypothyroidism (CH) and goiter studied to characterize iodide organification and thyroglobulin (TG) defects. 20972728 2010
Entrez Id: 7038
Gene Symbol: TG
TG
0.600 GeneticVariation disease BEFREE Dyshormonogenesis due to genetic defect in thyroglobulin (Tg) synthesis and secretion can lead to congenital hypothyroidism. 20089614 2010
Entrez Id: 7038
Gene Symbol: TG
TG
0.600 GeneticVariation disease BEFREE Thyroglobulin (TG) defect is a rare cause of congenital hypothyroidism. 19837936 2009
Entrez Id: 7038
Gene Symbol: TG
TG
0.600 GeneticVariation disease BEFREE Congenital goiter is a risk factor for thyroid cancer and some thyroglobulin variants may confer susceptibility to thyroid autoimmunity. 19633549 2009
Entrez Id: 7038
Gene Symbol: TG
TG
0.600 GeneticVariation disease 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