DisGeNET - a database of gene-disease associations

PIK3CD, phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta, 5293

N. diseases: 1119; N. variants: 24

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs397518423

Entrez Id:	5293
Gene Symbol:	PIK3CD

PIK3CD

CUI:	C3714976
Disease:

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

Entrez Id:	5293
Gene Symbol:	PIK3CD

PIK3CD

CUI:	C3714976
Disease:

ACTIVATED PI3K-DELTA SYNDROME

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

Entrez Id:	5293
Gene Symbol:	PIK3CD

PIK3CD

CUI:	C3714976
Disease:

ACTIVATED PI3K-DELTA SYNDROME

0.820

CausalMutation

CLINVAR

Activating PI3Kδ mutations in a cohort of 669 patients with primary immunodeficiency.

26437962

2016

dbSNP:

rs397518423

Entrez Id:	5293
Gene Symbol:	PIK3CD

PIK3CD

CUI:	C3714976
Disease:

ACTIVATED PI3K-DELTA SYNDROME

0.820

CausalMutation

CLINVAR

Gain of Function Mutations of PIK3CD as a Cause of Primary Sclerosing Cholangitis.

25352054

2015

dbSNP:

rs397518423

Entrez Id:	5293
Gene Symbol:	PIK3CD

PIK3CD

CUI:	C3714976
Disease:

ACTIVATED PI3K-DELTA SYNDROME

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

Entrez Id:	5293
Gene Symbol:	PIK3CD

PIK3CD

CUI:	C3714976
Disease:

ACTIVATED PI3K-DELTA SYNDROME

0.820

CausalMutation

CLINVAR

Mutations in PIK3CD can cause hyper IgM syndrome (HIGM) associated with increased cancer susceptibility.

24610295

2014

dbSNP:

rs397518423

Entrez Id:	5293
Gene Symbol:	PIK3CD

PIK3CD

CUI:	C3714976
Disease:

ACTIVATED PI3K-DELTA SYNDROME

0.820

CausalMutation

CLINVAR

Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage.

24136356

2013

dbSNP:

rs397518423

Entrez Id:	5293
Gene Symbol:	PIK3CD

PIK3CD

CUI:	C3714976
Disease:

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

Entrez Id:	5293
Gene Symbol:	PIK3CD

PIK3CD

CUI:	C3714976
Disease:

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

Entrez Id:	5293
Gene Symbol:	PIK3CD

PIK3CD

CUI:	C3714976
Disease:

ACTIVATED PI3K-DELTA SYNDROME

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

dbSNP:

rs4240896

Entrez Id:	5293;644997
Gene Symbol:	PIK3CD;PIK3CD-AS1

PIK3CD;PIK3CD-AS1

CUI:	C0023508
Disease:

White Blood Cell Count procedure

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs7516214

Entrez Id:	5293
Gene Symbol:	PIK3CD

PIK3CD

CUI:	C0200638
Disease:

Eosinophil count procedure

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs4240895

Entrez Id:	5293;644997
Gene Symbol:	PIK3CD;PIK3CD-AS1

PIK3CD;PIK3CD-AS1

CUI:	C1336708
Disease:

Testicular Germ Cell Tumor

0.700

GeneticVariation

GWASCAT

Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor.

28604728

2017

dbSNP:

rs7516138

Entrez Id:	5293
Gene Symbol:	PIK3CD

PIK3CD

CUI:	C0200637
Disease:

Monocyte count procedure

0.700

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

27863252

2016

dbSNP:

rs7516138

Entrez Id:	5293
Gene Symbol:	PIK3CD

PIK3CD

CUI:	C0750880
Disease:

Monocyte count result

0.700

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

27863252

2016

dbSNP:

rs14271

Entrez Id:	5293;22883
Gene Symbol:	PIK3CD;CLSTN1

PIK3CD;CLSTN1

CUI:	C0004096
Disease:

Asthma

0.700

GeneticVariation

GWASCAT

Genome-Wide Association Study Identifies Novel Loci Associated With Diisocyanate-Induced Occupational Asthma.

25918132

2015

dbSNP:

rs28730670

Entrez Id:	5293
Gene Symbol:	PIK3CD

PIK3CD

CUI:	C3714976
Disease:

ACTIVATED PI3K-DELTA SYNDROME

0.700

CausalMutation

CLINVAR

dbSNP:

rs397518423

Entrez Id:	5293
Gene Symbol:	PIK3CD

PIK3CD

CUI:	C0557874
Disease:

Global developmental delay

0.700

CausalMutation

CLINVAR

dbSNP:

rs397518423

Entrez Id:	5293
Gene Symbol:	PIK3CD

PIK3CD

CUI:	C0019214
Disease:

Hepatosplenomegaly

0.700

CausalMutation

CLINVAR

dbSNP:

rs397518423

Entrez Id:	5293
Gene Symbol:	PIK3CD

PIK3CD

CUI:	C0497156
Disease:

Lymphadenopathy

0.700

CausalMutation

CLINVAR

dbSNP:

rs397518423

Entrez Id:	5293
Gene Symbol:	PIK3CD

PIK3CD

CUI:	C0040034
Disease:

Thrombocytopenia

0.700

CausalMutation

CLINVAR

dbSNP:

rs587777389

Entrez Id:	5293
Gene Symbol:	PIK3CD

PIK3CD

CUI:	C3714976
Disease:

ACTIVATED PI3K-DELTA SYNDROME

0.700

CausalMutation

CLINVAR

dbSNP:

rs587777390

Entrez Id:	5293
Gene Symbol:	PIK3CD

PIK3CD

CUI:	C3714976
Disease:

ACTIVATED PI3K-DELTA SYNDROME

0.700

CausalMutation

CLINVAR

dbSNP:

rs1229729609

Entrez Id:	5293
Gene Symbol:	PIK3CD

PIK3CD

CUI:	C1846385
Disease:

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

dbSNP:

rs397518423

Entrez Id:	5293
Gene Symbol:	PIK3CD

PIK3CD

CUI:	C0006413
Disease:

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