DisGeNET - a database of gene-disease associations

Colorectal Carcinoma, C0009402

Variant: rs121913279 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121913279

PIK3CA

0.820

GeneticVariation

BEFREE

We developed a sensitive, simple and rapid approach to detect the low-abundance PIK3CA (H1047R) mutation in real CRC specimens, providing an effective tool for guiding cancer targeted therapy.

27405731

2016

dbSNP:

rs121913279

PIK3CA

0.820

GeneticVariation

BEFREE

Collectively, our data suggest that PF-04691502 exhibits potent anticancer activity in colorectal cancer by targeting both PIK3CA (H1047R) mutant CSCs and their derivatives.

23826249

2013

dbSNP:

rs121913279

PIK3CA

0.820

GeneticVariation

UNIPROT

The prevalence of PIK3CA mutations in gastric and colon cancer.

15994075

2005

dbSNP:

rs121913279

PIK3CA

0.820

GeneticVariation

UNIPROT

Functional analysis of PIK3CA gene mutations in human colorectal cancer.

15930273

2005

dbSNP:

rs121913279

PIK3CA

0.820

CausalMutation

CLINVAR