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: C0235950
Disease: Zinc deficiency
Zinc deficiency
0.010 AlteredExpression disease BEFREE Expression of p53 pro-apoptotic target genes was upregulated by zinc deficiency. 30545932 2018
CUI: C0276289
Disease: Zika Virus Infection
Zika Virus Infection
0.040 Biomarker disease BEFREE Correction to: ZIKA virus elicits P53 activation and genotoxic stress in human neural progenitors similar to mutations involved in severe forms of genetic microcephaly. 30459303 2018
CUI: C0276289
Disease: Zika Virus Infection
Zika Virus Infection
0.040 Biomarker disease BEFREE Ribosomal stress and Tp53-mediated neuronal apoptosis in response to capsid protein of the Zika virus. 29192272 2017
CUI: C0276289
Disease: Zika Virus Infection
Zika Virus Infection
0.040 AlteredExpression disease BEFREE In this review, we highlighted the fact that the activation of P53 and inhibition of the mTOR pathway by ZIKV infection to neuronal stem cells induces early shifting from glycolysis to oxidative phosphorylation (OXPHOS) may induce immature differentiation, apoptosis, and stem cell exhaustion. 30043260 2019
CUI: C0276289
Disease: Zika Virus Infection
Zika Virus Infection
0.040 Biomarker disease BEFREE An Integrative Analysis Reveals a Central Role of P53 Activation via MDM2 in Zika Virus Infection Induced Cell Death. 28775961 2017
CUI: C0014145
Disease: Yolk Sac Tumor
Yolk Sac Tumor
0.010 GeneticVariation disease BEFREE Single-strand conformation polymorphism and sequencing analyses demonstrated the same pattern of p53 mutation in the adenocarcinomatous and yolk sac tumor components. 10223229 1999
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A
0.030 AlteredExpression disease BEFREE To investigate the p53 response to ultraviolet (UV) type of DNA damage, p53 protein level, its transcriptional activity and in vivo ubiquitination were compared in repair-proficient normal human fibroblasts (NHFs) and repair-deficient xeroderma pigmentosum (XP) group A and group C (XP-C) fibroblasts subsequent to irradiation with UV light. 10972991 2000
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A
0.030 GeneticVariation disease BEFREE Preferential DNA damage in the p53 gene by benzo[a]pyrene metabolites in cytochrome P4501A1-expressing xeroderma pigmentosum group A cells. 8634092 1996
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A
0.030 Biomarker disease BEFREE The percentage p53-positive cells was highest and the threshold for p53 accumulation was lowest in XPA and CSB cells. 12888115 2003
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
0.020 AlteredExpression disease BEFREE We report here that XP-E strains are defective in UV irradiation-induced apoptosis due to severely reduced basal and UV-induced p53 levels. 14560002 2003
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
0.020 Biomarker disease BEFREE The mouse model of XP-E demonstrated that DDB2 was well conserved between mouse and human and was critical in controlling proper cell-survival through regulating the tumor suppressor p53-mediated responses after ultraviolet (UV)-irradiation: i.e. defective DDB2 causes the resistance to cell-killing by UV-irradiation due to decreased p53-mediated apoptosis. 16325378 2006
Xeroderma Pigmentosum, Complementation Group D
0.040 AlteredExpression disease BEFREE The experiments were randomly divided into a control group, a liposome control group, a negative control (NC) group, an XPD siRNA group, and an XPD siRNA + P53 inhibitor group. 30409962 2018
Xeroderma Pigmentosum, Complementation Group D
0.040 GeneticVariation disease BEFREE These results suggest that individuals who smoke and have the XPD codon 312 Asp/Asp genotype may be at a greater risk of p53 mutations, especially if combined with other polymorphisms that may result in deficient DNA repair. 12844488 2003
Xeroderma Pigmentosum, Complementation Group D
0.040 Biomarker disease BEFREE Here we report that p53 can bind to several transcription factor IIH-associated factors, including transcription-repair factors, XPD (Rad3) and XPB, as well as CSB involved in strand-specific DNA repair, via its C-terminal domain. 7663514 1995
Xeroderma Pigmentosum, Complementation Group D
0.040 GeneticVariation disease BEFREE Specifically, 2 polymorphisms-an arginine-to-glutamine substitution at codon 399 (Q399R) in XRCC1 and a lysine-to-glutamine substitution at codon 751 (K751Q) in XPD-were associated with increased toxicity to 5-FU/RT (P < .05), and an arginine-to-proline substitution at codon 72 (R72P) in TP53 was associated with increased toxicity to mFOLFOX-6 (P = .008). 23096768 2013
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
0.090 GeneticVariation disease BEFREE A patient with xeroderma pigmentosum group C was extensively examined for mutations in the p53 gene in normal skin exposed to varying degrees of sunlight and in excisional biopsies of basal cell cancer, squamous cell cancer, and squamous cell dysplasia. 9622088 1998
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
0.090 Biomarker disease BEFREE The roles of p53 and NER in ICL-triggered cell death were confirmed by knockdown of p53 and XPC. 23604128 2014
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
0.090 AlteredExpression disease BEFREE To investigate the p53 response to ultraviolet (UV) type of DNA damage, p53 protein level, its transcriptional activity and in vivo ubiquitination were compared in repair-proficient normal human fibroblasts (NHFs) and repair-deficient xeroderma pigmentosum (XP) group A and group C (XP-C) fibroblasts subsequent to irradiation with UV light. 10972991 2000
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
0.090 Biomarker disease BEFREE Selective repair of the transcribed DNA strand of p53 is observed in both human cell strains; the strand bias of repair is particularly distinct in XP-C. Mutations specific to the nontranscribed strand may occur due to replication errors at the sites of unrepaired DNA damage. 8221675 1993
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
0.090 GeneticVariation disease BEFREE In addition, a significantly longer overall survival after chemotherapy was observed in patients who had XPC Lys939Gln AC+CC genotypes with estrogen receptor positive (log-rank test, P = 0.086) and p53 negative (log-rank test, P = 0.020). 22519360 2012
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
0.090 Biomarker disease BEFREE Increased p53 and p73 responses following cisplatin treatment were also observed in HT1197 cells stably transfected with XPC cDNA. 17510383 2007
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
0.090 AlteredExpression disease BEFREE Here, we show that p53 transcriptional activity is modulated by XPC, whereby XPC stabilizes hHR23B to form an hHR23B-p53 complex that prevents p53 degradation. 21056989 2010
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
0.090 Biomarker disease BEFREE The human p53 gene is repaired in UV (254 nm)-irradiated xeroderma pigmentosum group C (XP-C) cells as part of a large genomic region that is about twice the size of the gene. 8764129 1996
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
0.090 AlteredExpression disease BEFREE We show that increased expression of p53 results in enhanced HCR of the UVC-damaged reporter gene in both untreated and UVC-treated cells for normal, CS-B (TCR-deficient), and XP-C (GGR-deficient), but not XP-A (TCR- and GGR-deficient) fibroblasts. 17196445 2007
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.100 GeneticVariation disease BEFREE The majority of the XP melanomas were of the lentigo maligna melanoma (LMM) type, as found in the elderly. p53 point mutations were found in 60% of XP-C melanomas and in only 10% of XPV melanomas, this latter frequency being similar to what has been reported in the general population. 11289118 2001