TP53, tumor protein p53, 7157

N. diseases: 2494; N. variants: 527
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912651
rs121912651
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0878638
Disease:
Abnormality of the tongue
A 0.700 CausalMutation CLINVAR
dbSNP: rs587781858
rs587781858
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0001080
Disease:
Achondroplasia
0.010 GeneticVariation BEFREE A mouse model for achondroplasia was generated by introducing the human mutation (glycine 380-arginine) into the mouse fibroblast growth factor receptor 3 (G374R) by a "knock-in" approach using gene targeting leading to a constitutively active receptor. 11518810 2001
dbSNP: rs773553186
rs773553186
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0022602
Disease:
Actinic keratosis
0.010 GeneticVariation BEFREE Two AK samples carried a not-previously described non-UV type missense mutation at codon 184 (Val184Glu) of exon 1b in the p14(ARF) gene. 18331779 2008
dbSNP: rs1057519996
rs1057519996
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0023440
Disease:
Acute Erythroblastic Leukemia
0.010 GeneticVariation BEFREE In conclusion, persistently active STAT5 can recruit normal p53, like in the case of MPN cells, but also p53 mutants, such as p53 M133K in human erythroleukemia cells, leading to pathologic gene expression that differs from canonical STAT5 or p53 transcriptional programs. 24681953 2015
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0023449
Disease:
Acute lymphocytic leukemia
0.020 GeneticVariation BEFREE In conclusion, the results suggest that there is no association between TP53 Arg72Pro polymorphism and the risk of leukemia, but the CC genotype may increase the risk of ALL TP53 Arg72Pro polymorphism CC genotype may increase the risk of ALL but is not associated with AML. 27053289 2016
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0023449
Disease:
Acute lymphocytic leukemia
0.020 GeneticVariation BEFREE Genetic polymorphisms in the 3'UTR region of the CXCL12 (rs1801157) and TP53 codon 72 (rs1042522) genes may contribute to susceptibility to childhood ALL because they affect some important processes, such as metastasis regulation and tumor suppression. 23653000 2013
dbSNP: rs1131691014
rs1131691014
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0023449
Disease:
Acute lymphocytic leukemia
0.010 GeneticVariation BEFREE In conclusion, the results suggest that there is no association between TP53 Arg72Pro polymorphism and the risk of leukemia, but the CC genotype may increase the risk of ALL TP53 Arg72Pro polymorphism CC genotype may increase the risk of ALL but is not associated with AML. 27053289 2016
dbSNP: rs878854066
rs878854066
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0023449
Disease:
Acute lymphocytic leukemia
0.010 GeneticVariation BEFREE In conclusion, the results suggest that there is no association between TP53 Arg72Pro polymorphism and the risk of leukemia, but the CC genotype may increase the risk of ALL TP53 Arg72Pro polymorphism CC genotype may increase the risk of ALL but is not associated with AML. 27053289 2016
dbSNP: rs864309495
rs864309495
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0023462
Disease:
Acute Megakaryocytic Leukemias
G 0.700 CausalMutation CLINVAR
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0023462
Disease:
Acute Megakaryocytic Leukemias
0.010 GeneticVariation BEFREE The acquisition of both mutations (Gly245Val and Arg72Pro) in the transformation from transient leukemia to overt acute megakaryoblastic leukemia suggests a functional role of mutant p53 in the evolution of this disease. 10616523 2000
dbSNP: rs1131691014
rs1131691014
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0023462
Disease:
Acute Megakaryocytic Leukemias
0.010 GeneticVariation BEFREE The acquisition of both mutations (Gly245Val and Arg72Pro) in the transformation from transient leukemia to overt acute megakaryoblastic leukemia suggests a functional role of mutant p53 in the evolution of this disease. 10616523 2000
dbSNP: rs121912656
rs121912656
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0023462
Disease:
Acute Megakaryocytic Leukemias
0.010 GeneticVariation BEFREE The acquisition of both mutations (Gly245Val and Arg72Pro) in the transformation from transient leukemia to overt acute megakaryoblastic leukemia suggests a functional role of mutant p53 in the evolution of this disease. 10616523 2000
dbSNP: rs878854066
rs878854066
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0023462
Disease:
Acute Megakaryocytic Leukemias
0.010 GeneticVariation BEFREE The acquisition of both mutations (Gly245Val and Arg72Pro) in the transformation from transient leukemia to overt acute megakaryoblastic leukemia suggests a functional role of mutant p53 in the evolution of this disease. 10616523 2000
dbSNP: rs121912654
rs121912654
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0001339
Disease:
Acute pancreatitis
0.010 GeneticVariation BEFREE The presence of GSTM1 is associated with increased susceptibility for AP, and the GSTP1 Val105Ile SNP is associated with an increased risk for AP in men. 27984487 2017
dbSNP: rs1490931437
rs1490931437
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0001339
Disease:
Acute pancreatitis
0.010 GeneticVariation BEFREE CASP9 Phe136Leu/Phe136Phe SNPs (heterozygotes) increases the risk for mild AP (odds ratio, 3.616; 95% confidence interval, 1.151-11.364; P < 0.05), whereas the homozygotic genotype of CASP9 Ala28Val decreases risk for mild AP (odds ratio, 0.296; 95% confidence interval, 0.091-0.963; P < 0.05). 27984487 2017
dbSNP: rs28934575
rs28934575
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0001418
Disease:
Adenocarcinoma
T 0.700 GeneticVariation CLINVAR
dbSNP: rs762846821
rs762846821
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0001418
Disease:
Adenocarcinoma
0.080 GeneticVariation BEFREE TVA-mediated infection of genetically engineered mice with endogenous expression of Kras(G12D) in pancreatic progenitor cells by using RCASBP(A) virus carrying a short hairpin RNA directed against murine TP53, resulted in dramatically enhanced progression to invasive adenocarcinomas. 18621715 2008
dbSNP: rs762846821
rs762846821
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0001418
Disease:
Adenocarcinoma
0.080 GeneticVariation BEFREE We show here that concomitant expression of Kras(G12D) and haploinsufficiency of the Smad4/Dpc4 tumor suppressor gene engenders a distinct class of pancreatic tumors, mucinous cystic neoplasms (MCNs), which culminate in invasive ductal adenocarcinomas. 17349581 2007
dbSNP: rs762846821
rs762846821
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0001418
Disease:
Adenocarcinoma
0.080 GeneticVariation BEFREE Using genetically engineered mouse models, we show that heterozygous mutation of Dpc4/Smad4 attenuates the metastatic potential of Kras(G12D/+);Trp53(R172H/+) pancreatic ductal adenocarcinomas while increasing their proliferation. 26004068 2015
dbSNP: rs762846821
rs762846821
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0001418
Disease:
Adenocarcinoma
0.080 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
dbSNP: rs762846821
rs762846821
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0001418
Disease:
Adenocarcinoma
0.080 GeneticVariation BEFREE Loss of Pten in the Kras(G12D);Amhr2-Cre mutant mice leads to the transformation of ovarian surface epithelial (OSE) cells and rapid development of low-grade, invasive serous adenocarcinomas. 22396451 2012
dbSNP: rs762846821
rs762846821
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0001418
Disease:
Adenocarcinoma
0.080 GeneticVariation BEFREE Firstly, lentivirus-mediated transduction of KRAS(G12V), MYC and human papillomavirus 16 (HPV16) E6/E7 under the control of a tetracyclin-inducible promoter efficiently immortalized and transformed primary HPDECs, which gave rise to adenocarcinomas subcutaneously in an immune-deficient mouse xenograft model, depending on expression of the four genes. 24858378 2014
dbSNP: rs762846821
rs762846821
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0001418
Disease:
Adenocarcinoma
0.080 GeneticVariation BEFREE Transcriptional profiling of Kras(G12V)-driven mouse hyperplasias revealed intertumor diversity with a subset that exhibited an aggressive transcriptional profile analogous to that of advanced human adenocarcinomas. 26855149 2016
dbSNP: rs762846821
rs762846821
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0001418
Disease:
Adenocarcinoma
0.080 GeneticVariation BEFREE The effect of NO-aspirin on pancreatic carcinogenesis was investigated by assessing the development of precursor pancreatic lesions and adenocarcinomas in Kras(G12D/+) transgenic mice that recapitulate human pancreatic cancer progression. 23019409 2012
dbSNP: rs1131691021
rs1131691021
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0001418
Disease:
Adenocarcinoma
0.020 GeneticVariation BEFREE Firstly, lentivirus-mediated transduction of KRAS(G12V), MYC and human papillomavirus 16 (HPV16) E6/E7 under the control of a tetracyclin-inducible promoter efficiently immortalized and transformed primary HPDECs, which gave rise to adenocarcinomas subcutaneously in an immune-deficient mouse xenograft model, depending on expression of the four genes. 24858378 2014