Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10000
Gene Symbol: AKT3
AKT3
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.170 GeneticVariation BEFREE Finally, our data show that constitutional AKT3 mutations are associated with megalencephaly, with or without autism, similar to PTEN-related disorders. 28969385

2017
Entrez Id: 10000
Gene Symbol: AKT3
AKT3
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.170 GeneticVariation BEFREE 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: C0221355
Disease: Macrocephaly
Macrocephaly 		0.170 GeneticVariation BEFREE Somatic and germline duplications or activating mutations of AKT3 have been reported in patients with hemimegalencephaly and megalencephaly. 25091978

2015
Entrez Id: 10000
Gene Symbol: AKT3
AKT3
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.170 GeneticVariation BEFREE Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3. 25416470

2015
Entrez Id: 10000
Gene Symbol: AKT3
AKT3
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.170 GeneticVariation BEFREE Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia. 25523067

2015
Entrez Id: 10000
Gene Symbol: AKT3
AKT3
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.170 GeneticVariation BEFREE Various AKT3 mutations are important in neurological disorders, such as microcephaly, hemimegalencephaly, and megalencephaly syndromes. 24039187

2013
Entrez Id: 10000
Gene Symbol: AKT3
AKT3
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.170 GeneticVariation BEFREE The observation of megalencephaly in a child with 1q43q44 duplication provides further evidence of involvement of AKT3 dosage imbalances in brain growth disturbance. 23794269

2013
Entrez Id: 10000
Gene Symbol: AKT3
AKT3
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.170 Biomarker HPO