Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913529
rs121913529
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.010 GeneticVariation BEFREE Altogether, one diffuse large B-cell lymphoma and one B-cell chronic lymphocytic leukemia (B-CLL) harbored a mutation (G12S and G12A, respectively) in the K-ras gene, and one B-CLL harbored a mutation (Q61R) in the N-ras gene. 9139869

1997

dbSNP: rs121913529
rs121913529
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.010 GeneticVariation BEFREE Altogether, one diffuse large B-cell lymphoma and one B-cell chronic lymphocytic leukemia (B-CLL) harbored a mutation (G12S and G12A, respectively) in the K-ras gene, and one B-CLL harbored a mutation (Q61R) in the N-ras gene. 9139869

1997

dbSNP: rs121913529
rs121913529
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma
0.010 GeneticVariation BEFREE Altogether, one diffuse large B-cell lymphoma and one B-cell chronic lymphocytic leukemia (B-CLL) harbored a mutation (G12S and G12A, respectively) in the K-ras gene, and one B-CLL harbored a mutation (Q61R) in the N-ras gene. 9139869

1997

dbSNP: rs121913529
rs121913529
CUI: C1868683
Disease: B-CELL MALIGNANCY, LOW-GRADE
B-CELL MALIGNANCY, LOW-GRADE
0.010 GeneticVariation BEFREE Altogether, one diffuse large B-cell lymphoma and one B-cell chronic lymphocytic leukemia (B-CLL) harbored a mutation (G12S and G12A, respectively) in the K-ras gene, and one B-CLL harbored a mutation (Q61R) in the N-ras gene. 9139869

1997

dbSNP: rs121913529
rs121913529
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE Recent evidence associates the codon 12 valine-for-glycine (G12V) mutant Ki-Ras protein with higher stage and increased lethality of colorectal carcinomas, while the codon 12 aspartate-for-glycine (G12D) Ras mutation shows no such association. 10398103

1999

dbSNP: rs121913529
rs121913529
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE All of the tumors that showed H-ras alteration had G-to-T transversion mutations in the second base of codon 12 (glycine --> valine). 10463479

1999

dbSNP: rs121913529
rs121913529
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.740 GeneticVariation BEFREE We find that physiological levels of Kras(G12D) induce ductal lesions that recapitulate the full spectrum of human pancreatic intraepithelial neoplasias (PanINs), putative precursors to invasive pancreatic cancer. 14706336

2003

dbSNP: rs121913529
rs121913529
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 GeneticVariation BEFREE To evaluate the role of oncogenic RAS mutations in pancreatic tumorigenesis, we directed endogenous expression of KRAS(G12D) to progenitor cells of the mouse pancreas. 14706336

2003

dbSNP: rs121913529
rs121913529
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.050 GeneticVariation BEFREE We find that physiological levels of Kras(G12D) induce ductal lesions that recapitulate the full spectrum of human pancreatic intraepithelial neoplasias (PanINs), putative precursors to invasive pancreatic cancer. 14706336

2003

dbSNP: rs121913529
rs121913529
CUI: C1135868
Disease: Gestational Trophoblastic Neoplasms
Gestational Trophoblastic Neoplasms
0.010 GeneticVariation BEFREE With the sensor probe designed for the GAT (G12D) mutant in codon 12 of the K-ras gene, the real-time PCR method also detected the GTT (G12V) mutant. 14718395

2004

dbSNP: rs121913529
rs121913529
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.710 GeneticVariation BEFREE K-ras mutation (GGT --> GAT, G12D) was detected in five (31%) gastric cancer cell lines and in 1 (1.6%) gastric cancer tissue sample. 15616773

2004

dbSNP: rs121913529
rs121913529
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.010 GeneticVariation BEFREE K-ras mutation (GGT --> GAT, G12D) was detected in five (31%) gastric cancer cell lines and in 1 (1.6%) gastric cancer tissue sample. 15616773

2004

dbSNP: rs121913529
rs121913529
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
0.030 GeneticVariation BEFREE We show here that the expression of K-ras(G12V) oncogene in a near diploid HPV16-E6E7 gene immortalized human pancreatic duct epithelial cell line originally derived from normal pancreas induced the formation of carcinoma in 50% of severe combined immunodeficient mice implanted with these cells. 15958547

2005

dbSNP: rs121913529
rs121913529
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.020 GeneticVariation BEFREE The GR/RR IRS1 genotypes were associated with an increased risk of colon cancers with the KRAS2 G12D mutation (OR 2.3, 95% CI 1.5, 3.5 versus controls, OR 1.7, 95% CI 1.1, 2.6 versus KRAS2 wild type), the "no 192" IGFI genotype increased the risk of the KRAS2 G13D mutation (OR 2.3, 95% CI 1.2, 4.2 versus controls, OR 2.1, 95% CI 1.1, 4.0 versus wild type), and the DD IRS2 genotype increased the risk of the G12V KRAS2 mutation (OR 1.8, 95% CI 0.9, 3.5 versus controls, OR 2.0, 95% CI 1.0, 4.0 versus wild type). 16448675

2006

dbSNP: rs121913529
rs121913529
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.010 GeneticVariation BEFREE Introduction of normal PTEN together with H-Ras(G12V) into U251 glioblastoma cells reduced the PI3K-dependent activation of Akt, but had no effect on vacuolation. 17210246

2007

dbSNP: rs121913529
rs121913529
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.010 GeneticVariation BEFREE Introduction of normal PTEN together with H-Ras(G12V) into U251 glioblastoma cells reduced the PI3K-dependent activation of Akt, but had no effect on vacuolation. 17210246

2007

dbSNP: rs121913529
rs121913529
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
0.010 GeneticVariation BEFREE Introduction of normal PTEN together with H-Ras(G12V) into U251 glioblastoma cells reduced the PI3K-dependent activation of Akt, but had no effect on vacuolation. 17210246

2007

dbSNP: rs121913529
rs121913529
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.010 GeneticVariation BEFREE Introduction of normal PTEN together with H-Ras(G12V) into U251 glioblastoma cells reduced the PI3K-dependent activation of Akt, but had no effect on vacuolation. 17210246

2007

dbSNP: rs121913529
rs121913529
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 GeneticVariation BEFREE Here, we demonstrate in an in vivo transgenic model in which atorvastatin reverses and prevents the onset of MYC-induced lymphomagenesis, but fails to reverse or prevent tumorigenesis in the presence of constitutively activated K-Ras (G12D). 17622571

2007

dbSNP: rs121913529
rs121913529
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE Correspondingly, tumors with a constitutively activated K-Ras (G12D) did not exhibit dephosphorylation of ERK1/2 and MYC. 17622571

2007

dbSNP: rs121913529
rs121913529
Pancreatic intraepithelial neoplasia
0.030 GeneticVariation BEFREE Delayed progression of pancreatic intraepithelial neoplasia in a conditional Kras(G12D) mouse model by a selective cyclooxygenase-2 inhibitor. 17652141

2007

dbSNP: rs121913529
rs121913529
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.010 GeneticVariation BEFREE We screened 25 WHO I and II astrocytomas for mutations of PTPN11, NRAS, KRAS, and HRAS genes and identified the somatic G12A KRAS mutation in one pilocytic astrocytoma. 17712732

2007

dbSNP: rs121913529
rs121913529
CUI: C0280781
Disease: Adult Pilocytic Astrocytoma
Adult Pilocytic Astrocytoma
0.010 GeneticVariation BEFREE We screened 25 WHO I and II astrocytomas for mutations of PTPN11, NRAS, KRAS, and HRAS genes and identified the somatic G12A KRAS mutation in one pilocytic astrocytoma. 17712732

2007

dbSNP: rs121913529
rs121913529
CUI: C1332995
Disease: Childhood Pilocytic Astrocytoma
Childhood Pilocytic Astrocytoma
0.010 GeneticVariation BEFREE We screened 25 WHO I and II astrocytomas for mutations of PTPN11, NRAS, KRAS, and HRAS genes and identified the somatic G12A KRAS mutation in one pilocytic astrocytoma. 17712732

2007

dbSNP: rs121913529
rs121913529
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE Ectopic expression of K-Ras(G12D) largely rescued let-7g mediated tumor suppression, whereas ectopic expression of HMGA2 was less effective. 18308936

2008