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: rs993079710
rs993079710
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C4225180
Disease:
EVEN-PLUS SYNDROME
0.010 GeneticVariation BEFREE We used differential scanning fluorimetry (DSF), biolayer interferometry, X-ray crystallography, ATP hydrolysis assays, and Rosetta docking simulations to study the structural and functional consequences of the EVEN-PLUS syndrome-associated R126W and Y128C mutations within the mortalin-NBD. 30933555 2019
dbSNP: rs989692988
rs989692988
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE The expression of Bcl-xL(S49A), (S62A) and dual (S49/62A) phosphorylation mutants in tumor cells lead to severe mitotic defects associated with multipolar spindle, chromosome lagging and bridging, and micro-, bi- and multi-nucleated cells. 27398719 2016
dbSNP: rs9895829
rs9895829
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE African Americans with Pro-T-A-G-G haplotypes of the combined TP53 polymorphisms TP53_01 (rs1042522), TP53_65 (rs9895829), TP53_66 (rs2909430), TP53_16 (rs1625895), and TP53_11 (rs12951053) had both an increased risk for lung cancer (odds ratio, 2.32; 95% confidence interval, 1.18-4.57) and a worsened lung cancer prognosis (hazards ratio, 2.38; 95% confidence interval, 1.38-4.10) compared with those with Arg-T-A-G-T haplotypes. 17301252 2007
dbSNP: rs9895829
rs9895829
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0029463
Disease:
Osteosarcoma
0.010 GeneticVariation BEFREE Results of haplotype analysis also showed that A-G-G-A-C haplotype (rs12951053, rs1042522, rs8064946, rs9895829 and rs12602273) conferred significant decreased risk of OS (OR=0.37, 95% CI: 0.19-0.72) compared with A-C-G-A-C haplotype. 26045840 2015
dbSNP: rs9895829
rs9895829
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1332986
Disease:
Childhood Osteosarcoma
0.010 GeneticVariation BEFREE Results of haplotype analysis also showed that A-G-G-A-C haplotype (rs12951053, rs1042522, rs8064946, rs9895829 and rs12602273) conferred significant decreased risk of OS (OR=0.37, 95% CI: 0.19-0.72) compared with A-C-G-A-C haplotype. 26045840 2015
dbSNP: rs9895829
rs9895829
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE African Americans with Pro-T-A-G-G haplotypes of the combined TP53 polymorphisms TP53_01 (rs1042522), TP53_65 (rs9895829), TP53_66 (rs2909430), TP53_16 (rs1625895), and TP53_11 (rs12951053) had both an increased risk for lung cancer (odds ratio, 2.32; 95% confidence interval, 1.18-4.57) and a worsened lung cancer prognosis (hazards ratio, 2.38; 95% confidence interval, 1.38-4.10) compared with those with Arg-T-A-G-T haplotypes. 17301252 2007
dbSNP: rs9895829
rs9895829
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE African Americans with Pro-T-A-G-G haplotypes of the combined TP53 polymorphisms TP53_01 (rs1042522), TP53_65 (rs9895829), TP53_66 (rs2909430), TP53_16 (rs1625895), and TP53_11 (rs12951053) had both an increased risk for lung cancer (odds ratio, 2.32; 95% confidence interval, 1.18-4.57) and a worsened lung cancer prognosis (hazards ratio, 2.38; 95% confidence interval, 1.38-4.10) compared with those with Arg-T-A-G-T haplotypes. 17301252 2007
dbSNP: rs9895829
rs9895829
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0585442
Disease:
Osteosarcoma of bone
0.010 GeneticVariation BEFREE Results of haplotype analysis also showed that A-G-G-A-C haplotype (rs12951053, rs1042522, rs8064946, rs9895829 and rs12602273) conferred significant decreased risk of OS (OR=0.37, 95% CI: 0.19-0.72) compared with A-C-G-A-C haplotype. 26045840 2015
dbSNP: rs9894946
rs9894946
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0028754
Disease:
Obesity
0.010 GeneticVariation BEFREE We have selected three <i>p53</i> polymorphisms, rs1642785 (C > G), and rs9894946 (A > G), and rs1042522 (Pro72Arg; C > G) and assessed their association with obesity risk in the Saudi population. 31762593 2019
dbSNP: rs9894946
rs9894946
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0853879
Disease:
Invasive carcinoma of breast
0.010 GeneticVariation BEFREE The data suggested that additional variants in the 3' UTR (rs9,894,946), and in two correlated SNPs (D' = 0.94, r(2) = 0.81) in introns 6 (rs1,625,895) and 4 (rs2,909,430), were associated with reduced invasive breast cancer risk among women aged 50 and younger only (P(interaction) < 0.03). 17449902 2007
dbSNP: rs985033810
rs985033810
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
T 0.800 CausalMutation CLINVAR The presence of TP53 mutation at diagnosis of follicular lymphoma identifies a high-risk group of patients with shortened time to disease progression and poorer overall survival. 18628487 2008
dbSNP: rs985033810
rs985033810
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
T 0.800 CausalMutation CLINVAR Genetic and functional analysis of a Li Fraumeni syndrome family in China. 26818906 2016
dbSNP: rs985033810
rs985033810
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
T 0.800 CausalMutation CLINVAR Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface. 24307375 2014
dbSNP: rs985033810
rs985033810
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
T 0.800 CausalMutation CLINVAR Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families. 18511570 2008
dbSNP: rs985033810
rs985033810
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
T 0.800 CausalMutation CLINVAR The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families. 16494995 2007
dbSNP: rs985033810
rs985033810
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
T 0.800 CausalMutation CLINVAR Germline TP53 mutational spectrum in French Canadians with breast cancer. 25925845 2015
dbSNP: rs985033810
rs985033810
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
0.800 GeneticVariation UNIPROT American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. 17392385 2007
dbSNP: rs985033810
rs985033810
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
0.800 GeneticVariation UNIPROT American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 24493721 2014
dbSNP: rs985033810
rs985033810
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
T 0.700 GeneticVariation CLINVAR The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families. 16494995 2007
dbSNP: rs985033810
rs985033810
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0278701
Disease:
Gastric Adenocarcinoma
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs985033810
rs985033810
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C2239176
Disease:
Liver carcinoma
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs985033810
rs985033810
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs985033810
rs985033810
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0149782
Disease:
Squamous cell carcinoma of lung
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs985033810
rs985033810
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs985033810
rs985033810
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0919267
Disease:
ovarian neoplasm
T 0.700 GeneticVariation CLINVAR