PI4KA, phosphatidylinositol 4-kinase alpha, 5297

N. diseases: 31; N. variants: 9
Disease: Polymicrogyria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		0.110 GeneticVariation disease BEFREE Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis. 25855803 2015
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		0.110 Biomarker disease HPO