. . . . . . . . . . . . "[Here, we describe activated PI3K-I' syndrome (APDS), a PID associated with a dominant gain-of-function mutation in which lysine replaced glutamic acid at residue 1021 (E1021K) in the p110I' protein, the catalytic subunit of phosphoinositide 3-kinase I' (PI3KI'), encoded by the PIK3CD gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . . "Gene-disease associations manually curated."@en . "DisGeNET evidence - CURATED"@en . "2015-02-21"^^ . "2015-08-25T14:37:42+02:00"^^ . . . . . . . . . . . "v3.0.0.0" . "v3.0.0" .