TG, thyroglobulin, 7038

N. diseases: 240; N. variants: 43
Disease: Thyroid Dyshormonogenesis 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912648
rs121912648
Entrez Id: 7038
Gene Symbol: TG
TG
CUI: C0342194
Disease:
Thyroid Dyshormonogenesis 3 		T 0.700 CausalMutation CLINVAR New insights into thyroglobulin gene: molecular analysis of seven novel mutations associated with goiter and hypothyroidism. 23164529 2013
dbSNP: rs121912648
rs121912648
Entrez Id: 7038
Gene Symbol: TG
TG
CUI: C0342194
Disease:
Thyroid Dyshormonogenesis 3 		T 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
dbSNP: rs121912648
rs121912648
Entrez Id: 7038
Gene Symbol: TG
TG
CUI: C0342194
Disease:
Thyroid Dyshormonogenesis 3 		T 0.700 CausalMutation CLINVAR New insights into thyroglobulin pathophysiology revealed by the study of a family with congenital goiter. 20410234 2010
dbSNP: rs121912648
rs121912648
Entrez Id: 7038
Gene Symbol: TG
TG
CUI: C0342194
Disease:
Thyroid Dyshormonogenesis 3 		T 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
dbSNP: rs121912648
rs121912648
Entrez Id: 7038
Gene Symbol: TG
TG
CUI: C0342194
Disease:
Thyroid Dyshormonogenesis 3 		T 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
dbSNP: rs121912648
rs121912648
Entrez Id: 7038
Gene Symbol: TG
TG
CUI: C0342194
Disease:
Thyroid Dyshormonogenesis 3 		T 0.700 CausalMutation CLINVAR A premature stopcodon in thyroglobulin messenger RNA results in familial goiter and moderate hypothyroidism. 10404833 1999