| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | GeneticVariation | CLINVAR | A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency. | 28190287 | 2017 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia. | 25523067 | 2015 |
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|
A | 0.700 | GeneticVariation | CLINVAR | De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. | 22729224 | 2012 |
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|
A | 0.700 | 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 |
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|
A | 0.700 | 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 |
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|
A | 0.700 | GeneticVariation | CLINVAR | A novel Akt3 mutation associated with enhanced kinase activity and seizure susceptibility in mice. | 21159799 | 2011 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures. | 15627943 | 2004 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Identification of a human Akt3 (protein kinase B gamma) which contains the regulatory serine phosphorylation site. | 10208883 | 1999 |