DisGeNET - a database of gene-disease associations

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

N. diseases: 1119; N. variants: 24

Disease: Neoplasms ×

Variant: rs1374013062 ×

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:

rs1374013062

Entrez Id:	5293
Gene Symbol:	PIK3CD

PIK3CD

CUI:	C0027651
Disease:

Neoplasms

0.010

GeneticVariation

BEFREE

Four PIK3CA mutations (p.G106A, p.N345T, p.E545K, and p.E545D) were detected in 3 tumors, 2 of which also harbored TP53 mutations.

29505425

2018