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: rs1000256867
rs1000256867
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0333875
Disease:
High-Grade Squamous Intraepithelial Lesions
0.010 GeneticVariation BEFREE The H85Y and E120D variants in E6 were significantly reduced in the high-grade squamous intraepithelial lesion (HSIL) group compared to the <HSIL group (P = .046 and .005), conversely the N29S in E7(P = .01). 31670402 2020
dbSNP: rs121912654
rs121912654
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE The lung-enriched p53 mutants V157F and R158L/P regulate a gain of function transcriptome in lung cancer. 31067569 2020
dbSNP: rs121912654
rs121912654
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE The lung-enriched p53 mutants V157F and R158L/P regulate a gain of function transcriptome in lung cancer. 31067569 2020
dbSNP: rs121912654
rs121912654
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE The lung-enriched p53 mutants V157F and R158L/P regulate a gain of function transcriptome in lung cancer. 31067569 2020
dbSNP: rs121912664
rs121912664
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1851584
Disease:
Childhood Ependymoma
0.010 GeneticVariation BEFREE The present finding indicates that the TP53 p.R337H germline mutation is uncommon in patients with EPN in Brazil and screening of pediatric patients RELA fusion EPN may be informative to better understand the role of TP53 germline mutations in the development and prognosis of these tumors. 31728854 2020
dbSNP: rs121912664
rs121912664
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0278874
Disease:
Adult Ependymoma
0.010 GeneticVariation BEFREE The present finding indicates that the TP53 p.R337H germline mutation is uncommon in patients with EPN in Brazil and screening of pediatric patients RELA fusion EPN may be informative to better understand the role of TP53 germline mutations in the development and prognosis of these tumors. 31728854 2020
dbSNP: rs121912664
rs121912664
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0796611
Disease:
Newly Diagnosed Childhood Ependymoma
0.010 GeneticVariation BEFREE The present finding indicates that the TP53 p.R337H germline mutation is uncommon in patients with EPN in Brazil and screening of pediatric patients RELA fusion EPN may be informative to better understand the role of TP53 germline mutations in the development and prognosis of these tumors. 31728854 2020
dbSNP: rs121912664
rs121912664
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0014474
Disease:
Ependymoma
0.010 GeneticVariation BEFREE The present finding indicates that the TP53 p.R337H germline mutation is uncommon in patients with EPN in Brazil and screening of pediatric patients RELA fusion EPN may be informative to better understand the role of TP53 germline mutations in the development and prognosis of these tumors. 31728854 2020
dbSNP: rs1305324490
rs1305324490
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0333875
Disease:
High-Grade Squamous Intraepithelial Lesions
0.010 GeneticVariation BEFREE The H85Y and E120D variants in E6 were significantly reduced in the high-grade squamous intraepithelial lesion (HSIL) group compared to the <HSIL group (P = .046 and .005), conversely the N29S in E7(P = .01). 31670402 2020
dbSNP: rs144340710
rs144340710
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0333875
Disease:
High-Grade Squamous Intraepithelial Lesions
0.010 GeneticVariation BEFREE The H85Y and E120D variants in E6 were significantly reduced in the high-grade squamous intraepithelial lesion (HSIL) group compared to the <HSIL group (P = .046 and .005), conversely the N29S in E7(P = .01). 31670402 2020
dbSNP: rs483352697
rs483352697
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE The lung-enriched p53 mutants V157F and R158L/P regulate a gain of function transcriptome in lung cancer. 31067569 2020
dbSNP: rs483352697
rs483352697
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE The lung-enriched p53 mutants V157F and R158L/P regulate a gain of function transcriptome in lung cancer. 31067569 2020
dbSNP: rs483352697
rs483352697
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE The lung-enriched p53 mutants V157F and R158L/P regulate a gain of function transcriptome in lung cancer. 31067569 2020
dbSNP: rs672601296
rs672601296
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0333875
Disease:
High-Grade Squamous Intraepithelial Lesions
0.010 GeneticVariation BEFREE The H85Y and E120D variants in E6 were significantly reduced in the high-grade squamous intraepithelial lesion (HSIL) group compared to the <HSIL group (P = .046 and .005), conversely the N29S in E7(P = .01). 31670402 2020
dbSNP: rs75821853
rs75821853
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C3839507
Disease:
Diminished ovarian reserve
0.010 GeneticVariation BEFREE Mutations in CHD5 (c.-140A>C), RB1 (c.1422-18delT, rs70651121), and TP53 (c.376-161A>G, rs75821853) were found at significantly higher frequencies in DOR cases compared to controls (p ≤ 0.05). 31792669 2020
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C4722518
Disease:
Triple-Negative Breast Carcinoma
0.010 GeneticVariation BEFREE In conclusion, genetic variants in <i>TP53</i> were found in all TNBC tumors, with rs1042522 being the most frequent (94% of TNBC biopsies), which had not been previously reported in TNBC. 30867801 2019
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0553580
Disease:
Ewings sarcoma
0.010 GeneticVariation BEFREE In the present meta-analysis, we aimed to elucidate the associations of TP53 rs1042522 genetic polymorphism with the risk of osteosarcoma or Ewing sarcoma. 30833364 2019
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0042133
Disease:
Uterine Fibroids
0.010 GeneticVariation BEFREE The results of the present study suggested that P72R/P72R genotype may be associated with development of uterine leiomyoma in the Turkish population in the Western part of the country. 31357239 2019
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C3539878
Disease:
Triple Negative Breast Neoplasms
0.010 GeneticVariation BEFREE In conclusion, genetic variants in <i>TP53</i> were found in all TNBC tumors, with rs1042522 being the most frequent (94% of TNBC biopsies), which had not been previously reported in TNBC. 30867801 2019
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0206624
Disease:
Hepatoblastoma
0.010 GeneticVariation BEFREE No significant association between the <i>TP53</i> rs1042522 C>G polymorphism and HB susceptibility was detected in the main analysis or in stratification analyses of age, gender, and clinical stages. 31293648 2019
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0007787
Disease:
Transient Ischemic Attack
0.010 GeneticVariation BEFREE Our findings demonstrate that the Tp53 Arg72Pro SNP controls PC-promoted neuroprotection against a subsequent ischemic insult by modulating mitochondrial p53 stabilization and then modulates TIA-induced ischemic tolerance. 29687302 2019
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0023267
Disease:
Fibroid Tumor
0.010 GeneticVariation BEFREE The results indicated that P72R/P72R genotype increased the risk of lei</span>omyoma development by 6.3 fold (95% confidence interval [CI]: 2.880-13.793). 31357239 2019
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0005586
Disease:
Bipolar Disorder
0.010 GeneticVariation BEFREE The increased TP53 expression might affect the occurrence of BD and SCZ, and rs1042522</span> might affect the progress of BD by disturbing gene expression. 31055723 2019
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0005967
Disease:
Bone neoplasms
0.010 GeneticVariation BEFREE Our results suggest that there are significant associations of TP53 rs1042522 polymorphism with malignant bone tumors risk. 30833364 2019
dbSNP: rs1057519975
rs1057519975
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C2939419
Disease:
Secondary Neoplasm
0.010 GeneticVariation BEFREE The objective of the study was to check whether a polymorphism in the RAD51 gene (135 G>C), Ku70 protein expression, and tumor microenvironment: proliferation rate measured by BrdUrdLI and Ki-67LI, hypoxia (glucose transporter-1 expression), P53 protein expression, and DNA ploidy can influence DNA repair capacity, the factors contributing to patient overall survival (OS) and the incidence of recurrences and metastases. 30289394 2019