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: rs730882005
rs730882005
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
A 0.800 CausalMutation CLINVAR Crystal structure of a p53 tumor suppressor-DNA complex: understanding tumorigenic mutations. 8023157 1994
dbSNP: rs730882005
rs730882005
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
T 0.800 GeneticVariation CLINVAR Heterogeneity in the clinical phenotype of TP53 mutations in breast cancer patients. 11051239 2000
dbSNP: rs730882005
rs730882005
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
A 0.800 CausalMutation CLINVAR Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. 12826609 2003
dbSNP: rs730882005
rs730882005
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
T 0.800 GeneticVariation CLINVAR TP53, BRCA1, and BRCA2 tumor suppressor genes are not commonly mutated in survivors of Hodgkin's disease with second primary neoplasms. 14673037 2003
dbSNP: rs730882005
rs730882005
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
A 0.800 CausalMutation CLINVAR Mutational analysis of TP53 and p21 in familial and sporadic ovarian cancer in Japan. 16337994 2006
dbSNP: rs730882005
rs730882005
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
T 0.800 GeneticVariation CLINVAR Functional analysis and molecular modeling show a preserved wild-type activity of p53(C238Y). 16818505 2006
dbSNP: rs730882005
rs730882005
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: rs730882005
rs730882005
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
A 0.800 CausalMutation CLINVAR Altered-function p53 missense mutations identified in breast cancers can have subtle effects on transactivation. 20407015 2010
dbSNP: rs730882005
rs730882005
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
A 0.800 CausalMutation CLINVAR The plasmacytoid carcinoma of the bladder--rare variant of aggressive urothelial carcinoma. 20878954 2011
dbSNP: rs730882005
rs730882005
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
A 0.800 CausalMutation CLINVAR DNA damage-induced transcriptional program in CLL: biological and diagnostic implications for functional p53 testing. 21115975 2011
dbSNP: rs730882005
rs730882005
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
T 0.800 GeneticVariation CLINVAR Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes. 21343334 2011
dbSNP: rs730882005
rs730882005
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
A 0.800 CausalMutation CLINVAR TP53 genetic alterations in Arab breast cancer patients: Novel mutations, pattern and distribution. 22866089 2011
dbSNP: rs730882005
rs730882005
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: rs730882005
rs730882005
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
A 0.800 CausalMutation CLINVAR TP53 and p53 statuses and their clinical impact in diffuse low grade gliomas. 24590827 2014
dbSNP: rs730882005
rs730882005
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
A 0.800 CausalMutation CLINVAR Wee-1 kinase inhibition overcomes cisplatin resistance associated with high-risk TP53 mutations in head and neck cancer through mitotic arrest followed by senescence. 25504633 2015
dbSNP: rs730882005
rs730882005
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
A 0.800 CausalMutation CLINVAR Evolutionary Action Score of TP53 Identifies High-Risk Mutations Associated with Decreased Survival and Increased Distant Metastases in Head and Neck Cancer. 25634208 2015
dbSNP: rs730882005
rs730882005
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
A 0.800 CausalMutation CLINVAR Evolutionary Action Score of TP53 Coding Variants Is Predictive of Platinum Response in Head and Neck Cancer Patients. 25691460 2015
dbSNP: rs730882005
rs730882005
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
A 0.800 CausalMutation CLINVAR TP53 mutations in older adults with acute myeloid leukemia. 26781615 2016
dbSNP: rs730882005
rs730882005
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
A 0.800 CausalMutation CLINVAR Strong synergy with APR-246 and DNA-damaging drugs in primary cancer cells from patients with TP53 mutant High-Grade Serous ovarian cancer. 27179933 2016