Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10000
Gene Symbol: AKT3
AKT3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency. 28190287

2017
Entrez Id: 10000
Gene Symbol: AKT3
AKT3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia. 25523067

2015
Entrez Id: 10000
Gene Symbol: AKT3
AKT3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44. 21800092

2012
Entrez Id: 10000
Gene Symbol: AKT3
AKT3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. 22228622

2012
Entrez Id: 10000
Gene Symbol: AKT3
AKT3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 22729224

2012
Entrez Id: 10000
Gene Symbol: AKT3
AKT3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR A novel Akt3 mutation associated with enhanced kinase activity and seizure susceptibility in mice. 21159799

2011
Entrez Id: 10000
Gene Symbol: AKT3
AKT3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures. 15627943

2004
Entrez Id: 10000
Gene Symbol: AKT3
AKT3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Identification of a human Akt3 (protein kinase B gamma) which contains the regulatory serine phosphorylation site. 10208883

1999