RHEB, Ras homolog, mTORC1 binding, 6009

N. diseases: 53; N. variants: 3
Disease: Hemimegalencephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0431391
Disease: Hemimegalencephaly
Hemimegalencephaly 		0.110 GeneticVariation disease BEFREE This is the first report of a somatic mutation in RHEB gene in a patient suffering from Epilepsy secondary to Hemimegalencephaly. 30414531 2019
CUI: C0431391
Disease: Hemimegalencephaly
Hemimegalencephaly 		0.110 GeneticVariation disease CLINVAR