Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7038
Gene Symbol: TG
TG
CUI: C0342194
Disease: Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 3 		0.700 CausalMutation CLINVAR Against all odds: blended phenotypes of three single-gene defects. 26813946

2016
Entrez Id: 7038
Gene Symbol: TG
TG
CUI: C0342194
Disease: Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 3 		0.700 CausalMutation CLINVAR New insights into thyroglobulin gene: molecular analysis of seven novel mutations associated with goiter and hypothyroidism. 23164529

2013
Entrez Id: 7038
Gene Symbol: TG
TG
CUI: C0342194
Disease: Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 3 		0.700 CausalMutation 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
Entrez Id: 7038
Gene Symbol: TG
TG
CUI: C0342194
Disease: Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 3 		0.700 CausalMutation CLINVAR New insights into thyroglobulin pathophysiology revealed by the study of a family with congenital goiter. 20410234

2010
Entrez Id: 7038
Gene Symbol: TG
TG
CUI: C0342194
Disease: Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 3 		0.700 CausalMutation 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
Entrez Id: 7038
Gene Symbol: TG
TG
CUI: C0342194
Disease: Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 3 		0.700 CausalMutation 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
Entrez Id: 7038
Gene Symbol: TG
TG
CUI: C0342194
Disease: Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 3 		0.700 CausalMutation CLINVAR A premature stopcodon in thyroglobulin messenger RNA results in familial goiter and moderate hypothyroidism. 10404833

1999