Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C1845668
Disease: Perisylvian syndrome
Perisylvian syndrome
0.010 GeneticVariation BEFREE Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) is a developmental brain disorder characterized by megalencephaly and bilateral perisylvian polymicrogyria due to defects in genes of the PI3K-AKT pathway. 31056854

2019