TP53, tumor protein p53, 7157

N. diseases: 2494; N. variants: 527
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0279821
Disease: metastatic pheochromocytoma
metastatic pheochromocytoma
0.010 GeneticVariation disease BEFREE Simultaneous Occurrence of Germline Mutations of SDHB and TP53 in a patient with Metastatic Pheochromocytoma. 31851316 2020
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome
0.010 GeneticVariation disease BEFREE However, p53 deficiency or accumulated mutations are not the causes of aCLS cancers. 31647999 2020
Low grade appendiceal mucinous neoplasm
0.010 GeneticVariation disease BEFREE The 10 cases of MACA harbored a similar prevalence of TP53 mutations (n=5, 50%) as HAMN but, unlike LAMN and HAMN, some harbored mutations in PIK3CA, APC, FBXW7, PTEN, and SMAD4. 31491041 2020
Metastatic Adrenal Gland Pheochromocytoma
0.010 GeneticVariation disease BEFREE Simultaneous Occurrence of Germline Mutations of SDHB and TP53 in a patient with Metastatic Pheochromocytoma. 31851316 2020
CUI: C2931456
Disease: Prostate cancer, familial
Prostate cancer, familial
0.010 Biomarker disease BEFREE Analysis of p53, Bcl-2, Ki67, and other immunohistochemistry biomarkers revealed that only increasing p53 expression and first-degree familial PCa approached significance (P = .059). 31664733 2020
CUI: C3146250
Disease: Stage III Colorectal Cancer AJCC v7
Stage III Colorectal Cancer AJCC v7
0.010 AlteredExpression disease BEFREE Here, we examined the predictive utility of TP53 overexpression in the context of current adjuvant treatment practice for patients with stage III colorectal cancer. 31471586 2020
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
0.010 AlteredExpression group BEFREE Western blotting and RT-qPCR confirmed the decrease in MYC and increase in p53 expression in ARMs. 31787253 2020
CUI: C3839507
Disease: Diminished ovarian reserve
Diminished ovarian reserve
0.010 GeneticVariation disease 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
CUI: C4722328
Disease: Hereditary Prostate Carcinoma
Hereditary Prostate Carcinoma
0.010 Biomarker disease BEFREE Analysis of p53, Bcl-2, Ki67, and other immunohistochemistry biomarkers revealed that only increasing p53 expression and first-degree familial PCa approached significance (P = .059). 31664733 2020
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.010 GeneticVariation disease BEFREE In this study, we aim to determine the association of TP53 polymorphisms, rs1042522 and rs17879353, with the susceptibility to schizophrenia (SCZ) or bipolar disorder (BD) in Chinese Han population. 31055723 2019
CUI: C0006625
Disease: Cachexia
Cachexia
0.010 AlteredExpression phenotype BEFREE Protein levels of phosphorylated p53 (Ser46), activated caspase 8 (Asp384) and 9 (Asp315) were also increased in the skeletal muscle of CC. 31466311 2019
CUI: C0007125
Disease: Carcinoma, Ehrlich Tumor
Carcinoma, Ehrlich Tumor
0.010 AlteredExpression disease BEFREE Overall, TCCP was shown to be efficient in inducing ROS and mitochondrial-mediated apoptosis by restoring p53 activity in MDA-MB-231 cells and also induced EAT cell death in vivo thereby inhibiting tumor proliferation. 30543781 2019
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.010 Biomarker disease BEFREE Upstream regulator analysis indicated dysregulation of CCL5, NF-κB and IL1A due to CF while dysregulation of TREM1 and TP53 regulators were associated with CF phenotype. 31118097 2019
CUI: C0011991
Disease: Diarrhea
Diarrhea
0.010 Biomarker phenotype BEFREE Overall, the present study reveals that chemotherapeutic selectivity conferred by SeNPs involves a dual suppression of two well-documented targets, the p53 and thrombospondin-1, providing mechanistic and pharmacologic insights on low-toxicity SeNPs as a potential chemoprotectant for mitigating chemotherapy-induced diarrhea. 31593755 2019
CUI: C0015672
Disease: Fatigue
Fatigue
0.010 Biomarker phenotype BEFREE SIRT1 appears to interact with p53 to improve muscle fatigue resistance after repair from muscle injury. 31197980 2019
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia
0.010 Biomarker disease BEFREE The binding of p53 to this region was confirmed using chromatin immunoprecipitation in human Friedreich's ataxia fibroblast and adenocarcinoma cells. 31159174 2019
CUI: C0021831
Disease: Intestinal Diseases
Intestinal Diseases
0.010 Biomarker group BEFREE Remarkably, we found that <i>VE-cadherin-Cre; p53<sup>FL/FL</sup></i> mice, in which both alleles of p53 are deleted in endothelial cells, were not sensitized to the acute GI radiation syndrome, but these mice were highly susceptible to delayed radiation enteropathy. 31265788 2019
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
0.010 AlteredExpression disease BEFREE Compared with control-VPCs, MFS-VPCs exhibited cellular senescence as demonstrated by increased cell size, higher SA-β-gal activity and elevated levels of p53 and p21. 30920150 2019
CUI: C0024894
Disease: Mastitis
Mastitis
0.010 Biomarker disease BEFREE It was concluded that Brassica oleracea may be a promising candidate to be included in a mammalian herbal cocktail against infectious bovine mastitis by interfering in the mechanisms of action of genes such as MTOR and TP53. 30685362 2019
CUI: C0027822
Disease: Neurodermatitis
Neurodermatitis
0.010 Biomarker disease BEFREE In particular, p53 parabasal and mid-epithelial staining without involvement of the basal layer appears to be a characteristic finding in CVIN with superimposed LSC. 29750709 2019
CUI: C0028840
Disease: Ocular Hypertension
Ocular Hypertension
0.010 Biomarker disease BEFREE Overexpression also increased survival of cells subjected to oxidative stress linked to ocular hypertension, associated with TP53 pathway activation. 30855200 2019
CUI: C0030552
Disease: Paresis
Paresis
0.010 Biomarker phenotype BEFREE In light of these results, we conclude that p53 expression in skeletal muscle fibers has minimal if any direct, cell autonomous effect on basal or age-related changes in skeletal muscle mass and function up to at least 22 mo of age.<b>NEW & NOTEWORTHY</b> Previous studies implicated the transcriptional regulator p53 as a potential mediator of age-related skeletal muscle weakness and atrophy. 31465716 2019
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.010 Biomarker disease BEFREE Collectively, our findings suggest a novel role for Dsg3 as an anti-stress protein, via suppression of p53 function, and this pathway is disrupted in PV. 31582719 2019
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders
0.010 Biomarker group BEFREE TP53 has been reported to be involved in diverse neurological processes related to the pathogenesis of psychosis. 31055723 2019
CUI: C0149922
Disease: Lichen Simplex Chronicus
Lichen Simplex Chronicus
0.010 Biomarker disease BEFREE In particular, p53 parabasal and mid-epithelial staining without involvement of the basal layer appears to be a characteristic finding in CVIN with superimposed LSC. 29750709 2019