Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777624
rs587777624
Entrez Id: 5296
Gene Symbol: PIK3R2
PIK3R2
CUI: C4012727
Disease:
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 		0.800 GeneticVariation UNIPROT De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia. 26860062 2016
dbSNP: rs587777624
rs587777624
Entrez Id: 5296
Gene Symbol: PIK3R2
PIK3R2
CUI: C4012727
Disease:
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 		0.800 GeneticVariation UNIPROT Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study. 26520804 2015
dbSNP: rs587777624
rs587777624
Entrez Id: 5296
Gene Symbol: PIK3R2
PIK3R2
CUI: C4012727
Disease:
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 		0.800 GeneticVariation UNIPROT AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH. 23745724 2014
dbSNP: rs587777624
rs587777624
Entrez Id: 5296
Gene Symbol: PIK3R2
PIK3R2
CUI: C4012727
Disease:
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 		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: rs587777624
rs587777624
Entrez Id: 5296
Gene Symbol: PIK3R2
PIK3R2
CUI: C4012727
Disease:
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 		C 0.800 CausalMutation CLINVAR
dbSNP: rs587776934
rs587776934
Entrez Id: 5296
Gene Symbol: PIK3R2
PIK3R2
CUI: C4012727
Disease:
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 		A 0.700 CausalMutation CLINVAR Molecular Diagnosis of Mosaic Overgrowth Syndromes Using a Custom-Designed Next-Generation Sequencing Panel. 28502725 2017
dbSNP: rs587776934
rs587776934
Entrez Id: 5296
Gene Symbol: PIK3R2
PIK3R2
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly. 28086757 2017
dbSNP: rs587776934
rs587776934
Entrez Id: 5296
Gene Symbol: PIK3R2
PIK3R2
CUI: C1865285
Disease:
Megalencephaly cutis marmorata telangiectatica congenita 		A 0.700 CausalMutation CLINVAR A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly. 28086757 2017
dbSNP: rs372272045
rs372272045
Entrez Id: 5296
Gene Symbol: PIK3R2
PIK3R2
CUI: C4012727
Disease:
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 		0.700 GeneticVariation UNIPROT De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia. 26860062 2016
dbSNP: rs587776934
rs587776934
Entrez Id: 5296
Gene Symbol: PIK3R2
PIK3R2
CUI: C4012727
Disease:
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 		A 0.700 CausalMutation CLINVAR De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia. 26860062 2016
dbSNP: rs587776934
rs587776934
Entrez Id: 5296
Gene Symbol: PIK3R2
PIK3R2
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia. 26860062 2016
dbSNP: rs372272045
rs372272045
Entrez Id: 5296
Gene Symbol: PIK3R2
PIK3R2
CUI: C4012727
Disease:
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 		0.700 GeneticVariation UNIPROT Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study. 26520804 2015
dbSNP: rs587776934
rs587776934
Entrez Id: 5296
Gene Symbol: PIK3R2
PIK3R2
CUI: C0000772
Disease:
Multiple congenital anomalies 		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
dbSNP: rs587776934
rs587776934
Entrez Id: 5296
Gene Symbol: PIK3R2
PIK3R2
CUI: C1865285
Disease:
Megalencephaly cutis marmorata telangiectatica congenita 		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
dbSNP: rs587776934
rs587776934
Entrez Id: 5296
Gene Symbol: PIK3R2
PIK3R2
CUI: C4012727
Disease:
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 		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
dbSNP: rs372272045
rs372272045
Entrez Id: 5296
Gene Symbol: PIK3R2
PIK3R2
CUI: C4012727
Disease:
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 		0.700 GeneticVariation UNIPROT AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH. 23745724 2014
dbSNP: rs587776934
rs587776934
Entrez Id: 5296
Gene Symbol: PIK3R2
PIK3R2
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH. 23745724 2014
dbSNP: rs587776934
rs587776934
Entrez Id: 5296
Gene Symbol: PIK3R2
PIK3R2
CUI: C1865285
Disease:
Megalencephaly cutis marmorata telangiectatica congenita 		A 0.700 CausalMutation CLINVAR Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations. 24497998 2014
dbSNP: rs587776934
rs587776934
Entrez Id: 5296
Gene Symbol: PIK3R2
PIK3R2
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations. 24497998 2014
dbSNP: rs587776934
rs587776934
Entrez Id: 5296
Gene Symbol: PIK3R2
PIK3R2
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP. 23592320 2013
dbSNP: rs587776934
rs587776934
Entrez Id: 5296
Gene Symbol: PIK3R2
PIK3R2
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Hemimegalencephaly, a paradigm for somatic postzygotic neurodevelopmental disorders. 23449172 2013
dbSNP: rs587776934
rs587776934
Entrez Id: 5296
Gene Symbol: PIK3R2
PIK3R2
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Frequent mutation of the PI3K pathway in head and neck cancer defines predictive biomarkers. 23619167 2013
dbSNP: rs587776934
rs587776934
Entrez Id: 5296
Gene Symbol: PIK3R2
PIK3R2
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Molecular mechanisms of childhood overgrowth. 23606607 2013
dbSNP: rs372272045
rs372272045
Entrez Id: 5296
Gene Symbol: PIK3R2
PIK3R2
CUI: C4012727
Disease:
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 		0.700 GeneticVariation UNIPROT De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 22729224 2012
dbSNP: rs587776934
rs587776934
Entrez Id: 5296
Gene Symbol: PIK3R2
PIK3R2
CUI: C4012727
Disease:
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 		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