Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10000
Gene Symbol: AKT3
AKT3
0.310 Biomarker disease BEFREE Mutations in mTOR regulatory genes (e.g., TSC1, TSC2, AKT3, DEPDC5) have been associated with several focal MCD highly associated with epilepsy such as tuberous sclerosis complex (TSC), hemimegalencephaly (HME; brain malformation associated with dramatic enlargement of one brain hemisphere), and cortical dysplasia. mTOR plays important roles in the regulation of cell division, growth, and survival, and, thus, aberrant activation of the cascade during cortical development can cause dramatic alterations in cell size, cortical lamination, and axon and dendrite outgrowth often observed in focal MCD. 25833943 2015
Entrez Id: 10000
Gene Symbol: AKT3
AKT3
0.310 Biomarker disease CTD_human De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. 22729223 2012