rs397518423
×
Entrez Id:
5293
Gene Symbol:
PIK3CD
PIK3CD
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
rs397518423
×
Entrez Id:
5293
Gene Symbol:
PIK3CD
PIK3CD
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
rs397518423
×
Entrez Id:
5293
Gene Symbol:
PIK3CD
PIK3CD
ACTIVATED PI3K-DELTA SYNDROME
A
0.820
CausalMutation
CLINVAR
Activating PI3Kδ mutations in a cohort of 669 patients with primary immunodeficiency.
26437962
2016
rs397518423
×
Entrez Id:
5293
Gene Symbol:
PIK3CD
PIK3CD
ACTIVATED PI3K-DELTA SYNDROME
A
0.820
CausalMutation
CLINVAR
Gain of Function Mutations of PIK3CD as a Cause of Primary Sclerosing Cholangitis.
25352054
2015
rs397518423
×
Entrez Id:
5293
Gene Symbol:
PIK3CD
PIK3CD
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
rs397518423
×
Entrez Id:
5293
Gene Symbol:
PIK3CD
PIK3CD
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
rs397518423
×
Entrez Id:
5293
Gene Symbol:
PIK3CD
PIK3CD
ACTIVATED PI3K-DELTA SYNDROME
A
0.820
CausalMutation
CLINVAR
Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage.
24136356
2013
rs397518423
×
Entrez Id:
5293
Gene Symbol:
PIK3CD
PIK3CD
ACTIVATED PI3K-DELTA SYNDROME
0.820
GeneticVariation
UNIPROT
Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage.
24136356
2013
rs397518423
×
Entrez Id:
5293
Gene Symbol:
PIK3CD
PIK3CD
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
rs397518423
×
Entrez Id:
5293
Gene Symbol:
PIK3CD
PIK3CD
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
rs4240896
PIK3CD;PIK3CD-AS1
White Blood Cell Count procedure
0.700
GeneticVariation
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019
rs7516214
×
Entrez Id:
5293
Gene Symbol:
PIK3CD
PIK3CD
Eosinophil count procedure
0.700
GeneticVariation
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019
rs4240895
PIK3CD;PIK3CD-AS1
Testicular Germ Cell Tumor
T
0.700
GeneticVariation
GWASCAT
Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor.
28604728
2017
rs7516138
×
Entrez Id:
5293
Gene Symbol:
PIK3CD
PIK3CD
Monocyte count procedure
G
0.700
GeneticVariation
GWASCAT
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
27863252
2016
rs7516138
×
Entrez Id:
5293
Gene Symbol:
PIK3CD
PIK3CD
Monocyte count result
G
0.700
GeneticVariation
GWASCAT
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
27863252
2016
rs14271
PIK3CD;CLSTN1
Asthma
A
0.700
GeneticVariation
GWASCAT
Genome-Wide Association Study Identifies Novel Loci Associated With Diisocyanate-Induced Occupational Asthma.
25918132
2015
rs28730670
×
Entrez Id:
5293
Gene Symbol:
PIK3CD
PIK3CD
ACTIVATED PI3K-DELTA SYNDROME
A
0.700
CausalMutation
CLINVAR
rs397518423
×
Entrez Id:
5293
Gene Symbol:
PIK3CD
PIK3CD
Global developmental delay
A
0.700
CausalMutation
CLINVAR
rs397518423
×
Entrez Id:
5293
Gene Symbol:
PIK3CD
PIK3CD
Hepatosplenomegaly
A
0.700
CausalMutation
CLINVAR
rs397518423
×
Entrez Id:
5293
Gene Symbol:
PIK3CD
PIK3CD
Lymphadenopathy
A
0.700
CausalMutation
CLINVAR
rs397518423
×
Entrez Id:
5293
Gene Symbol:
PIK3CD
PIK3CD
Thrombocytopenia
A
0.700
CausalMutation
CLINVAR
rs587777389
×
Entrez Id:
5293
Gene Symbol:
PIK3CD
PIK3CD
ACTIVATED PI3K-DELTA SYNDROME
A
0.700
CausalMutation
CLINVAR
rs587777390
×
Entrez Id:
5293
Gene Symbol:
PIK3CD
PIK3CD
ACTIVATED PI3K-DELTA SYNDROME
C
0.700
CausalMutation
CLINVAR
rs1229729609
×
Entrez Id:
5293
Gene Symbol:
PIK3CD
PIK3CD
FOCAL CORTICAL DYSPLASIA OF TAYLOR
0.010
GeneticVariation
BEFREE
Here, we carried out whole exome sequencing and targeted sequencing in paired brain-blood DNA from patients with FCDII and identified a brain somatic doublet mutation c.(A104T , C105A) in the Ras homolog, mTORC1 binding (RHEB) gene, which led to the RHEB p.Y35L mutation in one patient with FCDII .
31337748
2019
rs397518423
×
Entrez Id:
5293
Gene Symbol:
PIK3CD
PIK3CD
Burkitt Lymphoma
0.010
GeneticVariation
BEFREE
We also detected a heterozygous E1021K PIK3CD mutation, thus increasing the spectrum of somatic mutations altering the PI3K signaling pathway in BL .
30779244
2019