rs1799939, RET

N. diseases: 27
Disease: Multiple Endocrine Neoplasia Type 2a ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Multiple Endocrine Neoplasia Type 2a
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
0.020 GeneticVariation BEFREE We could not replicate the association between G691S/S904S and modifier effects in MEN2A families in any of the four European families analyzed. 16424056 2006
Multiple Endocrine Neoplasia Type 2a
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
0.020 GeneticVariation BEFREE In 46 cases of sporadic MTCs, we also studied the cosegregation of somatic RET gene mutation and G691S polymorphism as well as the linkage of the polymorphism with RET germline mutation in 60 members of eight multiple endocrine neoplasia type 2 families. 15240649 2004