Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Multiple Endocrine Neoplasia Type 1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
0.710 GeneticVariation BEFREE Our objective was to functionally characterize a panel of 16 menin missense mutants, including W423R and S443Y identified in new MEN1 families, with respect to protein stability, targeting to the proteasome and restoration of expression by proteasome inhibitors and expression and function by small interfering RNA technology. 22090276 2012
Multiple Endocrine Neoplasia Type 1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
0.710 GeneticVariation CLINVAR