RHEB, Ras homolog, mTORC1 binding, 6009

N. diseases: 53; N. variants: 3
Disease: Macroencephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2720434
Disease: Macroencephaly
Macroencephaly 		0.010 GeneticVariation disease BEFREE We report the mTOR activator gene RHEB as an ID gene that is associated with megalencephaly when mutated. 29051493 2017