RHEB, Ras homolog, mTORC1 binding, 6009

N. diseases: 53; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221505
Disease: Lesion of brain
Lesion of brain
0.010 GeneticVariation group BEFREE This RHEB mutation carrier had a dramatic increase of ribosomal protein S6 phosphorylation, indicating mTOR activation in the region of the brain lesion. 31337748 2019