Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 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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|
A | 0.700 | CausalMutation | CLINVAR | Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study. | 26520804 | 2015 |
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|
A | 0.700 | CausalMutation | CLINVAR | Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations. | 24497998 | 2014 |
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|
A | 0.700 | CausalMutation | CLINVAR | De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. | 22729224 | 2012 |