rs75076352, RET

N. diseases: 24
Disease: Multiple Endocrine Neoplasia Type 2b ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Multiple Endocrine Neoplasia Type 2b
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
0.710 GeneticVariation BEFREE MEN2A patients are affected by RET (C634Y, C634R) mutation; MEN2B patients are affected by RET (M918T) mutation. 29237911 2017
Multiple Endocrine Neoplasia Type 2b
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
0.710 GeneticVariation CLINVAR RET activation by germline MEN2A and MEN2B mutations. 8570194 1995