DisGeNET - a database of gene-disease associations

PIK3R2, phosphoinositide-3-kinase regulatory subunit 2, 5296

N. diseases: 120; N. variants: 8

Disease: Polymicrogyria ×

Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0266464
Disease:	Polymicrogyria

Polymicrogyria

0.120

GeneticVariation

disease

BEFREE

De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia.

26860062

2016

CUI:	C0266464
Disease:	Polymicrogyria

Polymicrogyria

0.120

GeneticVariation

disease

BEFREE

Second, we did amplicon sequencing of the recurrent PIK3R2 mutation (Gly373Arg) in 80 children with various types of polymicrogyria including BPP.

26520804

2015

CUI:	C0266464
Disease:	Polymicrogyria

Polymicrogyria

0.120

Biomarker

disease

HPO