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: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.600 AlteredExpression disease BEFREE Normal level of thyroglobulin messenger ribonucleic acid in a human congenital goiter with thyroglobulin deficiency. 3745406 1986
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.600 GeneticVariation disease BEFREE Clinical case seminar: metastatic follicular thyroid carcinoma arising from congenital goiter as a result of a novel splice donor site mutation in the thyroglobulin gene. 16403815 2006
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.600 Biomarker disease BEFREE Of note, blood thyroglobulin was unexpectedly elevated in the patients at the time of diagnosis, a finding that might prove useful in refining etiologies of congenital hypothyroidism. 9185526 1997
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.600 GeneticVariation disease LHGDN Linkage analysis identifies the thyroglobulin gene region as a major locus for familial congenital hypothyroidism. 11935320 2002
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.600 GeneticVariation disease BEFREE Evidence for the segregation of three different mutated alleles of the thyroglobulin gene in a Brazilian family with congenital goiter and hypothyroidism. 9588493 1998
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.600 Biomarker disease BEFREE Hyposialylated thyroglobulin in a patient with congenital goiter and hypothyroidism. 1727828 1992
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.600 GeneticVariation disease BEFREE Thyroglobulin (TG) defect is a rare cause of congenital hypothyroidism. 19837936 2009
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.600 GeneticVariation disease BEFREE Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism. 15611820 2004
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		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
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.600 GeneticVariation disease BEFREE A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism. 1752952 1991
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.600 GeneticVariation disease BEFREE Linkage analysis identifies the thyroglobulin gene region as a major locus for familial congenital hypothyroidism. 11935320 2002
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.600 GeneticVariation disease BEFREE Novel truncating thyroglobulin gene mutations associated with congenital hypothyroidism. 23949896 2014
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		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
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.600 GeneticVariation disease BEFREE Missense mutation (C1263R) in the thyroglobulin gene causes congenital goiter with mild hypothyroidism by impaired intracellular transport. 9790265 1998
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		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
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		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
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		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
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.600 Biomarker disease BEFREE Low serum thyroglobulin in the proband and his older brother and parental consanguinity was mostly compatible with a thyroglobulin defective synthesis and secretion as the cause of CH and fetal goiter. 16405406 2005
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.600 GeneticVariation disease BEFREE A molecular analysis and long-term follow-up of two siblings with severe congenital hypothyroidism carrying the IVS30+1G>T intronic thyroglobulin mutation. 19169491 2008
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.600 GeneticVariation disease 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
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.600 GeneticVariation disease 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
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.600 GeneticVariation disease BEFREE 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: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		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
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.600 GeneticVariation disease BEFREE Autosomal recessive inheritance of mutations of the thyroid peroxidase and thyroglobulin genes has been described in some patients with congenital hypothyroidism (CH) and a family history of CH. 10102047 1999
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		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