rs121913529, KRAS

N. diseases: 144
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 GeneticVariation UNIPROT
Pancreatic carcinoma
CUI: C0235974
Disease: Pancreatic carcinoma
0.740 CausalMutation CLINVAR
Pancreatic carcinoma
CUI: C0235974
Disease: Pancreatic carcinoma
0.740 CausalMutation CLINVAR
Organoid Nevus Phakomatosis
CUI: C0265329
Disease: Organoid Nevus Phakomatosis
0.730 CausalMutation CLINVAR
Stomach Neoplasms
CUI: C0038356
Disease: Stomach Neoplasms
0.710 CausalMutation CLINVAR
NEVUS, EPIDERMAL (disorder)
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
0.710 CausalMutation CLINVAR
Multiple Myeloma
CUI: C0026764
Disease: Multiple Myeloma
0.700 CausalMutation CLINVAR
Primary low grade serous adenocarcinoma of ovary
0.700 CausalMutation CLINVAR
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
0.700 CausalMutation CLINVAR
increased risk of pancreatic cancer
CUI: C1842408
Disease: increased risk of pancreatic cancer
0.700 CausalMutation CLINVAR
Nevus Sebaceus of Jadassohn
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
0.700 CausalMutation CLINVAR
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE 44% of the tumors were positive for G12D, 20% for G12V, and 10% for G12C. 27591291 2016
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
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
Pancreatic Ductal Adenocarcinoma
CUI: C1335302
Disease: Pancreatic Ductal Adenocarcinoma
0.020 GeneticVariation BEFREE Pancreatic ductal adenocarcinoma (PDAC) commonly contains a mutation in K-Ras(G12D) and is characterized by a desmoplastic reaction composed of deregulated, proliferating cells embedded in an abnormal extracellular matrix (ECM). 23555182 2013
Lung Neoplasms
CUI: C0024121
Disease: Lung Neoplasms
0.080 GeneticVariation BEFREE Lung tumors were induced by doxycycline, and the therapeutic effects of Kras DNA vaccine were evaluated with delivery of Kras(G12D) plasmids. 25077772 2014
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
0.100 GeneticVariation BEFREE Tumorigenesis was measured in the Kras(G12D/+);Ptf1a(Cre/+) mouse model of PDA; these mice were crossed with mice with pancreas-specific disruption of genes encoding PI3K p110α (Pik3ca), p110β (Pik3cb), or RAC1 (Rac1). 25311989 2014
Childhood Angiosarcoma
CUI: C0279988
Disease: Childhood Angiosarcoma
0.010 GeneticVariation BEFREE Angiosarcoma showed a KRAS G12D point mutation, which is considered to be characteristic of vinyl chloride-induced angiosarcoma. 27544804 2016
Hemangiosarcoma
CUI: C0018923
Disease: Hemangiosarcoma
0.010 GeneticVariation BEFREE Angiosarcoma showed a KRAS G12D point mutation, which is considered to be characteristic of vinyl chloride-induced angiosarcoma. 27544804 2016
Adult Angiosarcoma
CUI: C0278592
Disease: Adult Angiosarcoma
0.010 GeneticVariation BEFREE Angiosarcoma showed a KRAS G12D point mutation, which is considered to be characteristic of vinyl chloride-induced angiosarcoma. 27544804 2016
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.100 GeneticVariation BEFREE G12D K-Ras increased cleavage of p35 to p25, a stable and greater activator of CDK5, thus implicating a role for CDK5 in early progression of PDAC. 21825040 2011
Secondary malignant neoplasm of colon and/or rectum
0.030 GeneticVariation BEFREE G12V and G12A KRAS mutations are associated with poor outcome in patients with metastatic colorectal cancer treated with bevacizumab. 26662311 2016
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 GeneticVariation BEFREE G12V and G12C mutations in the gene KRAS are associated with a poorer prognosis in primary colorectal cancer. 31309326 2019
Malignant neoplasm of colon and/or rectum
0.060 GeneticVariation BEFREE G12V and G12C mutations in the gene KRAS are associated with a poorer prognosis in primary colorectal cancer. 31309326 2019
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE G12D and Q61H are among the most prevalent cancer-causing mutations at the P-loop and switch 2 regions of KRAS, respectively. 31554397 2019
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.100 GeneticVariation BEFREE G12D and Q61H are among the most prevalent cancer-causing mutations at the P-loop and switch 2 regions of KRAS, respectively. 31554397 2019