rs78014899, RET

N. diseases: 12
Disease: Medullary carcinoma of thyroid ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Medullary carcinoma of thyroid
CUI: C0238462
Disease: Medullary carcinoma of thyroid
0.710 GeneticVariation BEFREE The RET E768D mutation is associated with MTC with a later age at presentation, incomplete penetrance and less aggressive course compared with other high risk RET mutations. 16736292 2006
Medullary carcinoma of thyroid
CUI: C0238462
Disease: Medullary carcinoma of thyroid
0.710 GeneticVariation CLINVAR Oncogenic activation of RET by two distinct FMTC mutations affecting the tyrosine kinase domain. 9242375 1997