Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514606
rs397514606
AKT3
CUI: C4014738
Disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2 		0.800 GeneticVariation UNIPROT AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH. 23745724

2014
dbSNP: rs397514606
rs397514606
AKT3
CUI: C4014738
Disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2 		0.800 GeneticVariation UNIPROT Somatic activation of AKT3 causes hemispheric developmental brain malformations. 22500628

2012
dbSNP: rs397514606
rs397514606
AKT3
CUI: C4014738
Disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2 		0.800 GeneticVariation UNIPROT De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 22729224

2012
dbSNP: rs397514606
rs397514606
AKT3
CUI: C4014738
Disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2 		0.800 GeneticVariation UNIPROT De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. 22729223

2012