MDM2, MDM2 proto-oncogene, 4193

N. diseases: 702; N. variants: 30
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1690916
rs1690916
Entrez Id: 4193
Gene Symbol: MDM2
MDM2
CUI: C0585442
Disease:
Osteosarcoma of bone
0.020 GeneticVariation BEFREE In conclusion, the present meta-analysis indicates that MDM2 rs1690916 and rs2279744 cannot be considered as genetic risk factors for OS susceptibility in the different populations. 27438225 2016
dbSNP: rs2279744
rs2279744
Entrez Id: 4193
Gene Symbol: MDM2
MDM2
CUI: C0585442
Disease:
Osteosarcoma of bone
0.020 GeneticVariation BEFREE In conclusion, the present meta-analysis indicates that MDM2 rs1690916 and rs2279744 cannot be considered as genetic risk factors for OS susceptibility in the different populations. 27438225 2016
dbSNP: rs1690916
rs1690916
Entrez Id: 4193
Gene Symbol: MDM2
MDM2
CUI: C0585442
Disease:
Osteosarcoma of bone
0.020 GeneticVariation BEFREE MDM2 rs1690916 polymorphism was also associated with a risk of osteosarcoma (OR = 0.60, 95 % CI 0.46-0.77, P < 0.001). 24122202 2014
dbSNP: rs2279744
rs2279744
Entrez Id: 4193
Gene Symbol: MDM2
MDM2
CUI: C0585442
Disease:
Osteosarcoma of bone
0.020 GeneticVariation BEFREE However, MDM2 rs2279744 polymorphism was not associated with the overall survival of patients with osteosarcoma (codominant model, HR = 1.01, 95 % CI 0.53-1.91, P = 0.98; recessive model, HR = 1.07, 95 % CI 0.54-2.11, P = 0.85; dominant model, HR = 1.04, 95 % CI 0.65-1.66, P = 0.87). 24122202 2014
dbSNP: rs780673045
rs780673045
Entrez Id: 4193
Gene Symbol: MDM2
MDM2
CUI: C0585442
Disease:
Osteosarcoma of bone
0.020 GeneticVariation BEFREE As a whole, 11 of 29 (38%) analyzed OS presented alterations in some of the analyzed G1 to S-phase checkpoint genes. 15167009 2004
dbSNP: rs780673045
rs780673045
Entrez Id: 4193
Gene Symbol: MDM2
MDM2
CUI: C0585442
Disease:
Osteosarcoma of bone
0.020 GeneticVariation BEFREE The prevalence of these alterations, in conjunction with the reported inactivation of RB in up to 80% of cases, suggests that genetic lesions deregulating the G1 to S cell cycle checkpoint may be an almost constant feature in the pathogenesis of osteosarcoma. 9935200 1999
dbSNP: rs367597251
rs367597251
Entrez Id: 4193
Gene Symbol: MDM2
MDM2
CUI: C0585442
Disease:
Osteosarcoma of bone
0.010 GeneticVariation BEFREE <b>Methods:</b> Osteosarcoma cancer cell line MG-63 was transfected with Ras gene with G12V and Y40C site mutation. 31126199 2019
dbSNP: rs756673959
rs756673959
Entrez Id: 4193
Gene Symbol: MDM2
MDM2
CUI: C0585442
Disease:
Osteosarcoma of bone
0.010 GeneticVariation BEFREE <b>Methods:</b> Osteosarcoma cancer cell line MG-63 was transfected with Ras gene with G12V and Y40C site mutation. 31126199 2019
dbSNP: rs11177386
rs11177386
Entrez Id: 4193
Gene Symbol: MDM2
MDM2
CUI: C0585442
Disease:
Osteosarcoma of bone
0.010 GeneticVariation BEFREE Results from this study indicated that the allele-A and genotype-AA of MDM2 c.346G>A genetic variant could be an increased risk factor for the susceptibility to osteosarcoma and might be used as a potential molecular marker for evaluating the risk of osteosarcoma. 25551700 2015
dbSNP: rs199812774
rs199812774
Entrez Id: 4193
Gene Symbol: MDM2
MDM2
CUI: C0585442
Disease:
Osteosarcoma of bone
0.010 GeneticVariation BEFREE The T allele and TT genotype of c.44C>T and C allele and CC genotype of c.1002T>C could be increased risk factors for the susceptibility to OS. 23933591 2013
dbSNP: rs201821879
rs201821879
Entrez Id: 4193
Gene Symbol: MDM2
MDM2
CUI: C0585442
Disease:
Osteosarcoma of bone
0.010 GeneticVariation BEFREE The T allele and TT genotype of c.44C>T and C allele and CC genotype of c.1002T>C could be increased risk factors for the susceptibility to OS. 23933591 2013
dbSNP: rs1353702185
rs1353702185
Entrez Id: 4193
Gene Symbol: MDM2
MDM2
CUI: C0585442
Disease:
Osteosarcoma of bone
0.010 GeneticVariation BEFREE The study provides evidence supporting the association of MDM2 SNP309 with high-grade osteosarcoma risk in females and shows that TP53 Arg72Pro has a prognostic value for overall survival and EFS in osteosarcoma patients. 19451596 2009