Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751713
Disease: Inclusion Body Myopathy, Sporadic
Inclusion Body Myopathy, Sporadic
0.030 GeneticVariation disease BEFREE Therefore, the TOMM40 VL polyT repeat, although not influencing disease susceptibility, has a disease-modifying effect on sIBM, which can be enhanced by the APOE genotype ε3/ε3. 25670332 2015
CUI: C0751713
Disease: Inclusion Body Myopathy, Sporadic
Inclusion Body Myopathy, Sporadic
0.030 GeneticVariation disease BEFREE The rs10527454 polymorphism in the TOMM40 gene seems to have a disease modifying effect on sIBM by delaying the onset of symptoms, and this effect may be enhanced by the APOE ε3/ε3 genotype. 26335925 2015
CUI: C0751713
Disease: Inclusion Body Myopathy, Sporadic
Inclusion Body Myopathy, Sporadic
0.030 AlteredExpression disease BEFREE However, further studies in other s-IBM populations are needed to confirm these findings, as well as expression studies of different TOMM40 alleles in muscle tissue. 24103330 2013