DisGeNET - a database of gene-disease associations

Non-Small Cell Lung Carcinoma, C0007131

Variant: rs121913529 ×

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:

rs121913529

KRAS

0.790

GeneticVariation

BEFREE

NSCLC cell lines with mutant KRas-Gly12Asp had activated phosphatidylinositol 3-kinase (PI-3-K) and mitogen-activated protein/extracellular signal-regulated kinase kinase (MEK) signaling, whereas those with mutant KRas-Gly12Cys or mutant KRas-Gly12Val had activated Ral signaling and decreased growth factor-dependent Akt activation.

22247021

2012

dbSNP:

rs121913529

KRAS

0.790

GeneticVariation

BEFREE

A biopsy acquired after disease progression revealed the original SDC4-ROS1 fusion along with a KRAS point mutation (p.G12D).We reviewed the related literature to determine the frequency of gene mutations in non-small cell lung cancer patients.

28971587

2018

dbSNP:

rs121913529

KRAS

0.790

GeneticVariation

BEFREE

A doxycycline-inducible mouse model of KRAS (G12D) driven NSCLC and patient data was analyzed from multiple publicly accessible databases including TCGA, CCLE, NCBI GEO and Project Achilles.

26173780

2015

dbSNP:

rs121913529

KRAS

0.790

GeneticVariation

CLINVAR

A synthetic lethal interaction between K-Ras oncogenes and Cdk4 unveils a therapeutic strategy for non-small cell lung carcinoma.

20609353

2010

dbSNP:

rs121913529

KRAS

0.790

CausalMutation

CLINVAR

BRAF and RAS mutations in human lung cancer and melanoma.

12460918

2002

dbSNP:

rs121913529

KRAS

0.790

CausalMutation

CLINVAR

BRAF and RAS mutations in human lung cancer and melanoma.

12460918

2002

dbSNP:

rs121913529

KRAS

0.790

CausalMutation

CLINVAR

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

17704260

2007

dbSNP:

rs121913529

KRAS

0.790

CausalMutation

CLINVAR

Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia.

19047918

2009

dbSNP:

rs121913529

KRAS

0.790

CausalMutation

CLINVAR

Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia.

19047918

2009

dbSNP:

rs121913529

KRAS

0.790

GeneticVariation

CLINVAR

Effect of simvastatin on cetuximab resistance in human colorectal cancer with KRAS mutations.

21398618

2011

dbSNP:

rs121913529

KRAS

0.790

CausalMutation

CLINVAR

Effective use of PI3K and MEK inhibitors to treat mutant Kras G12D and PIK3CA H1047R murine lung cancers.

19029981

2008

dbSNP:

rs121913529

KRAS

0.790

CausalMutation

CLINVAR

Frequency and distinctive spectrum of KRAS mutations in never smokers with lung adenocarcinoma.

18794081

2008

dbSNP:

rs121913529

KRAS

0.790

CausalMutation

CLINVAR

Frequency and distinctive spectrum of KRAS mutations in never smokers with lung adenocarcinoma.

18794081

2008

dbSNP:

rs121913529

KRAS

0.790

GeneticVariation

BEFREE

KRAS G12D point mutation plays an important role in the incidence of non-small-cell lung cancer (NSCLC) as well as colorectal cancer, pancreatic cancer and breast cancer.

30876538

2019

dbSNP:

rs121913529

KRAS

0.790

GeneticVariation

BEFREE

KRAS G12D and STK11 mutations confer poor prognoses for patients with KRAS-mutant NSCLC.

31200821

2019

dbSNP:

rs121913529

KRAS

0.790

CausalMutation

CLINVAR

KRAS mutation analysis in ovarian samples using a high sensitivity biochip assay.

19358724

2009

dbSNP:

rs121913529

KRAS

0.790

CausalMutation

CLINVAR

KRAS mutation analysis in ovarian samples using a high sensitivity biochip assay.

19358724

2009

dbSNP:

rs121913529

KRAS

0.790

CausalMutation

CLINVAR

KRAS mutations and primary resistance of lung adenocarcinomas to gefitinib or erlotinib.

15696205

2005

dbSNP:

rs121913529

KRAS

0.790

CausalMutation

CLINVAR

KRAS mutations and primary resistance of lung adenocarcinomas to gefitinib or erlotinib.

15696205

2005

dbSNP:

rs121913529

KRAS

0.790

CausalMutation

CLINVAR

KRAS mutations and primary resistance of lung adenocarcinomas to gefitinib or erlotinib.

15696205

2005

dbSNP:

rs121913529

KRAS

0.790

CausalMutation

CLINVAR

KRAS(G12V) enhances proliferation and initiates myelomonocytic differentiation in human stem/progenitor cells via intrinsic and extrinsic pathways.

21169357

2011

dbSNP:

rs121913529

KRAS

0.790

GeneticVariation

CLINVAR

Mechanisms of resistance to crizotinib in patients with ALK gene rearranged non-small cell lung cancer.

22235099

2012

dbSNP:

rs121913529

KRAS

0.790

CausalMutation

CLINVAR

Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and possibly mutually exclusive in high hyperdiploid childhood acute lymphoblastic leukemia.

17910045

2008

dbSNP:

rs121913529

KRAS

0.790

GeneticVariation

CLINVAR

Prognostic value of the KRAS G12V mutation in 841 surgically resected Caucasian lung adenocarcinoma cases.

26372703

2015

dbSNP:

rs121913529

KRAS

0.790

GeneticVariation

CLINVAR

Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

25157968

2014