rs2076738, TG

N. diseases: 6
Disease: Congenital goiter ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital goiter
CUI: C0349476
Disease: Congenital goiter
0.020 GeneticVariation 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
Congenital goiter
CUI: C0349476
Disease: Congenital goiter
0.020 GeneticVariation BEFREE Missense mutation (C1263R) in the thyroglobulin gene causes congenital goiter with mild hypothyroidism by impaired intracellular transport. 9790265 1998