Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397518423
rs397518423
PIK3CD
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
ACTIVATED PI3K-DELTA SYNDROME 		0.820 GeneticVariation BEFREE To better understand the impact of B cells in this disease, we generated an inducible model of the common APDS mutation (h<i>PIK3CD</i>-E1021K; referred to as aPIK3CD) and intercrossed these mice with B cell-specific Cre models. 30194267

2018
dbSNP: rs397518423
rs397518423
PIK3CD
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
ACTIVATED PI3K-DELTA SYNDROME 		0.820 GeneticVariation BEFREE Here, we describe activated PI3K-δ syndrome (APDS), a PID associated with a dominant gain-of-function mutation in which lysine replaced glutamic acid at residue 1021 (E1021K) in the p110δ protein, the catalytic subunit of phosphoinositide 3-kinase δ (PI3Kδ), encoded by the PIK3CD gene. 24136356

2013