rs746284240, MDM2

N. diseases: 11
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Primary malignant neoplasm of appendix
CUI: C1306050
Disease: Primary malignant neoplasm of appendix
0.010 GeneticVariation BEFREE However, these profiles did not segregate by histology (lung adenocarcinoma-appendiceal cancer (KRAS G12D and GNAS R201C), and lung adenocarcinoma-liposarcoma (CDK4 and MDM2 amplification pairs)). 26418953 2015
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.010 GeneticVariation BEFREE However, these profiles did not segregate by histology (lung adenocarcinoma-appendiceal cancer (KRAS G12D and GNAS R201C), and lung adenocarcinoma-liposarcoma (CDK4 and MDM2 amplification pairs)). 26418953 2015
Childhood Liposarcoma
CUI: C0279984
Disease: Childhood Liposarcoma
0.010 GeneticVariation BEFREE However, these profiles did not segregate by histology (lung adenocarcinoma-appendiceal cancer (KRAS G12D and GNAS R201C), and lung adenocarcinoma-liposarcoma (CDK4 and MDM2 amplification pairs)). 26418953 2015
Malignant neoplasm of appendix
CUI: C0496779
Disease: Malignant neoplasm of appendix
0.010 GeneticVariation BEFREE However, these profiles did not segregate by histology (lung adenocarcinoma-appendiceal cancer (KRAS G12D and GNAS R201C), and lung adenocarcinoma-liposarcoma (CDK4 and MDM2 amplification pairs)). 26418953 2015
liposarcoma
CUI: C0023827
Disease: liposarcoma
0.010 GeneticVariation BEFREE However, these profiles did not segregate by histology (lung adenocarcinoma-appendiceal cancer (KRAS G12D and GNAS R201C), and lung adenocarcinoma-liposarcoma (CDK4 and MDM2 amplification pairs)). 26418953 2015
Adult Liposarcoma
CUI: C0278608
Disease: Adult Liposarcoma
0.010 GeneticVariation BEFREE However, these profiles did not segregate by histology (lung adenocarcinoma-appendiceal cancer (KRAS G12D and GNAS R201C), and lung adenocarcinoma-liposarcoma (CDK4 and MDM2 amplification pairs)). 26418953 2015
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
0.010 GeneticVariation BEFREE These results suggest that tsTAg synergistically promotes Kras(G12D) -associated PDAC formation, and our study identifies a new mouse model of PDAC that may allow a better understanding of the mechanism of carcinogenesis in pancreatic carcinoma, which shows a catastrophic clinical course. 25042889 2014
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.010 GeneticVariation BEFREE Mice with pancreas-specific tsTAg expression developed acinar cell dysplasia by 22 weeks without PanIN formation, while mice expressing both tsTAg and Kras(G12D) developed highly aggressive adenocarcinoma with a ductal cell phenotype within a short period, and died within 3 weeks. 25042889 2014
Pancreatic carcinoma
CUI: C0235974
Disease: Pancreatic carcinoma
0.010 GeneticVariation BEFREE These results suggest that tsTAg synergistically promotes Kras(G12D) -associated PDAC formation, and our study identifies a new mouse model of PDAC that may allow a better understanding of the mechanism of carcinogenesis in pancreatic carcinoma, which shows a catastrophic clinical course. 25042889 2014
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.010 GeneticVariation BEFREE These results suggest that tsTAg synergistically promotes Kras(G12D) -associated PDAC formation, and our study identifies a new mouse model of PDAC that may allow a better understanding of the mechanism of carcinogenesis in pancreatic carcinoma, which shows a catastrophic clinical course. 25042889 2014
Pancreatic intraepithelial neoplasia
CUI: C1301034
Disease: Pancreatic intraepithelial neoplasia
0.010 GeneticVariation BEFREE Mice with pancreas-specific tsTAg expression developed acinar cell dysplasia by 22 weeks without PanIN formation, while mice expressing both tsTAg and Kras(G12D) developed highly aggressive adenocarcinoma with a ductal cell phenotype within a short period, and died within 3 weeks. 25042889 2014