Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | CausalMutation | CLINVAR | A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly. | 28086757 | 2017 |
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|
C | 0.700 | CausalMutation | CLINVAR | Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3. | 25416470 | 2015 |
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|
C | 0.700 | CausalMutation | CLINVAR | Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia. | 25523067 | 2015 |
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|
C | 0.700 | CausalMutation | CLINVAR | AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH. | 23745724 | 2014 |
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|
C | 0.700 | CausalMutation | CLINVAR | De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. | 22729224 | 2012 |