TG, thyroglobulin, 7038

N. diseases: 240; N. variants: 43
Disease: Familial dyshormonogenetic goiter ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2069566
rs2069566
Entrez Id: 7038;105375768
Gene Symbol: TG;LOC105375768
TG;LOC105375768
CUI: C0342191
Disease:
Familial dyshormonogenetic goiter 		0.010 GeneticVariation BEFREE Biallelic c.6725G>A (p.R2223H) mutation causes Tg retention in the endoplasmic reticulum, resulting in dyshormonogenesis. 20089614 2010