Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.030 GeneticVariation BEFREE Of 6 patients with simultaneous hereditary MTC and PTC, 5 revealed late-onset REarranged during Transfection (RET) mutations (1 L790F carrier; 2 V804L and 2 S891A carriers). 21626080 2012
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.030 GeneticVariation BEFREE Single nucleotide polymorphisms act as modifiers and correlate with the development of medullary and simultaneous medullary/papillary thyroid carcinomas in 2 large, non-related families with the RET V804M proto-oncogene mutation. 21134561 2010
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.030 GeneticVariation BEFREE One hundred and seven family members with the rearranged during transfection V804M proto-oncogene mutation presenting with simultaneous medullary and papillary thyroid carcinomas, rare primary hyperparathyroidism, and no pheochromocytomas: is this a new syndrome--MEN 2C? 19958926 2009