DisGeNET - a database of gene-disease associations

PIK3CA, phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha, 5290

N. diseases: 1511; N. variants: 83

Disease: Liver carcinoma ×

Variant: rs121913274 ×

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:

rs121913274

Entrez Id:	5290
Gene Symbol:	PIK3CA

PIK3CA

CUI:	C2239176
Disease:

Liver carcinoma

0.800

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs121913274

Entrez Id:	5290
Gene Symbol:	PIK3CA

PIK3CA

CUI:	C2239176
Disease:

Liver carcinoma

0.800

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs121913274

Entrez Id:	5290
Gene Symbol:	PIK3CA

PIK3CA

CUI:	C2239176
Disease:

Liver carcinoma

0.800

GeneticVariation

UNIPROT

PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas.

15608678

2005

dbSNP:

rs121913274

Entrez Id:	5290
Gene Symbol:	PIK3CA

PIK3CA

CUI:	C2239176
Disease:

Liver carcinoma

0.800

CausalMutation

CLINVAR