AKT3, AKT serine/threonine kinase 3, 10000

N. diseases: 183; N. variants: 21
Disease: Polymicrogyria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		0.110 GeneticVariation disease BEFREE Overall, our study shows that activating mutations of the critical AKT3 gene are associated with a wide spectrum of brain involvement ranging from focal or segmental brain malformations (such as hemimegalencephaly and polymicrogyria) predominantly due to mosaic AKT3 mutations, to diffuse bilateral cortical malformations, megalencephaly and heterotopia due to constitutional AKT3 mutations. 28969385 2017
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		0.110 GeneticVariation disease CLINVAR
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		0.110 Biomarker disease HPO