Source: ALL

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 		A 0.820 CausalMutation CLINVAR The case of an APDS patient: Defects in maturation and function and decreased in vitro anti-mycobacterial activity in the myeloid compartment. 26732860

2017
dbSNP: rs397518423
rs397518423
PIK3CD
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
ACTIVATED PI3K-DELTA SYNDROME 		A 0.820 CausalMutation CLINVAR Activating PI3Kδ mutations in a cohort of 669 patients with primary immunodeficiency. 26437962

2016
dbSNP: rs397518423
rs397518423
PIK3CD
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
ACTIVATED PI3K-DELTA SYNDROME 		A 0.820 CausalMutation CLINVAR Gain of Function Mutations of PIK3CD as a Cause of Primary Sclerosing Cholangitis. 25352054

2015
dbSNP: rs397518423
rs397518423
PIK3CD
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
ACTIVATED PI3K-DELTA SYNDROME 		A 0.820 CausalMutation CLINVAR Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency. 24165795

2014
dbSNP: rs397518423
rs397518423
PIK3CD
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
ACTIVATED PI3K-DELTA SYNDROME 		A 0.820 CausalMutation CLINVAR Mutations in PIK3CD can cause hyper IgM syndrome (HIGM) associated with increased cancer susceptibility. 24610295

2014
dbSNP: rs397518423
rs397518423
PIK3CD
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
ACTIVATED PI3K-DELTA SYNDROME 		A 0.820 CausalMutation CLINVAR Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage. 24136356

2013
dbSNP: rs397518423
rs397518423
PIK3CD
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
ACTIVATED PI3K-DELTA SYNDROME 		0.820 GeneticVariation UNIPROT Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage. 24136356

2013
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
dbSNP: rs397518423
rs397518423
PIK3CD
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
ACTIVATED PI3K-DELTA SYNDROME 		A 0.820 CausalMutation CLINVAR Identification of variations in the human phosphoinositide 3-kinase p110delta gene in children with primary B-cell immunodeficiency of unknown aetiology. 16984281

2006