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: C0342194
Disease: Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 3 		0.700 CausalMutation disease CLINVAR New insights into thyroglobulin pathophysiology revealed by the study of a family with congenital goiter. 20410234 2010
CUI: C0342194
Disease: Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 3 		0.700 Biomarker disease GENOMICS_ENGLAND Association of the Asp1312Gly Thyroglobulin Gene Polymorphism with Susceptibility to Differentiated Thyroid Cancer in an Iranian Population 28345837 2017
CUI: C0342194
Disease: Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 3 		0.700 GeneticVariation disease UNIPROT Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene. 17532758 2007
CUI: C0342194
Disease: Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 3 		0.700 Biomarker disease CTD_human
CUI: C0342194
Disease: Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 3 		0.700 GeneticVariation disease UNIPROT A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels. 16477365 2006
CUI: C0342194
Disease: Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 3 		0.700 CausalMutation disease CLINVAR A new compound heterozygous for c.886C>T/c.2206C>T [p.R277X/p.Q717X] mutations in the thyroglobulin gene as a cause of foetal goitrous hypothyroidism. 21128992 2011
CUI: C0342194
Disease: Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 3 		0.700 CausalMutation disease CLINVAR A premature stopcodon in thyroglobulin messenger RNA results in familial goiter and moderate hypothyroidism. 10404833 1999
CUI: C0342194
Disease: Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 3 		0.700 GeneticVariation disease 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
CUI: C0342194
Disease: Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 3 		0.700 GeneticVariation disease UNIPROT Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability. 27305979 2016
CUI: C0342194
Disease: Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 3 		0.700 Biomarker disease GENOMICS_ENGLAND Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ. 27525530 2016
CUI: C0342194
Disease: Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 3 		0.700 GeneticVariation disease UNIPROT Thyroglobulin gene mutations producing defective intracellular transport of thyroglobulin are associated with increased thyroidal type 2 iodothyronine deiodinase activity. 17244789 2007
CUI: C0342194
Disease: Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 3 		0.700 CausalMutation disease CLINVAR Two distinct compound heterozygous constellations (R277X/IVS34-1G>C and R277X/R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesis. 14764776 2004
CUI: C0342194
Disease: Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 3 		0.700 CausalMutation disease CLINVAR A new case of congenital goiter with hypothyroidism caused by a homozygous p.R277X mutation in the exon 7 of the thyroglobulin gene: a mutational hot spot could explain the recurrence of this mutation. 15769978 2005
CUI: C0342194
Disease: Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 3 		0.700 CausalMutation disease CLINVAR Against all odds: blended phenotypes of three single-gene defects. 26813946 2016
CUI: C0342194
Disease: Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 3 		0.700 GeneticVariation disease 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
CUI: C0342194
Disease: Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 3 		0.700 CausalMutation disease CLINVAR New insights into thyroglobulin gene: molecular analysis of seven novel mutations associated with goiter and hypothyroidism. 23164529 2013
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.600 GeneticVariation disease BEFREE The objective of this study is to analyze the recurrence of the p.R277X/p.R1511X compound heterozygous mutation in the TG gene in two unrelated families (one Argentinian and another Brazilian) with congenital hypothyroidism, goiter and impairment of TG synthesis. 17911408 2007
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.600 AlteredExpression disease BEFREE Differential levels of thyroid peroxidase and thyroglobulin messenger ribonucleic acids in congenital goiter with defective thyroglobulin synthesis. 2096156 1990
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		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
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.600 GeneticVariation disease BEFREE We report on a German girl with congenital hypothyroidism due to a mutation in the thyroid peroxidase (TPO) gene who had elevated serum levels of thyroglobulin during periods of hyperthyrotropinemia. 19189706 2008
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.600 GeneticVariation disease BEFREE Sequencing of other CH candidate genes in the 57 patients revealed 2 thyroglobulin (TG) variants. 27108200 2016
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		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
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.600 GeneticVariation disease BEFREE Mutations in the human thyroglobulin gene are associated with congenital goiter or endemic and nonendemic simple goiter. 16870170 2006
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.600 Biomarker disease MGD
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.600 GeneticVariation disease BEFREE Inherited as an autosomal recessive trait, deficient Tg causes congenital hypothyroidism in newborns that, if untreated, results in goiter along with serious cognitive and growth defects. 9707574 1998