Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR Three germline mutations in the TP53 gene. 9067756

1997

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR Comprehensive mutational scanning of the p53 coding region by two-dimensional gene scanning. 9667734

1998

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR Childhood adrenocortical carcinoma as a sentinel cancer for detecting families with germline TP53 mutations. 22233476

2012

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR A common p53 mutation (R175H) activates c-Met receptor tyrosine kinase to enhance tumor cell invasion. 23792586

2013

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR [Germline tp53 neomutation in a patient with Li-Fraumeni syndrome and pancreatic adenocarcinoma]. 16633321

2006

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR A patient with 17 primary tumours and a germ line mutation in TP53: tumour induction by adjuvant therapy? 11315715

2000

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. 18414213

2008

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR Highly prevalent TP53 mutation predisposing to many cancers in the Brazilian population: a case for newborn screening? 19717094

2009

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR A specific linkage between the incidence of TP53 mutations and type of chromosomal translocations in B-precursor acute lymphoblastic leukemia cell lines. 20575032

2010

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR Improving performance of multigene panels for genomic analysis of cancer predisposition. 26845104

2016

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR EFGR-mutant lung adenocarcinoma and Li-Fraumeni syndrome: report of two cases and review of the literature. 25433984

2015

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR The p53 isoform, Δ133p53α, stimulates angiogenesis and tumour progression. 22733133

2013

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR Early-onset breast cancer patients in the South and Southeast of Brazil should be tested for the TP53 p.R337H mutation. 27223487

2016

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR Li-Fraumeni syndrome--a molecular and clinical review. 9218725

1997

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma. 1565143

1992

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR A detailed study of loss of heterozygosity on chromosome 17 in tumours from Li-Fraumeni patients carrying a mutation to the TP53 gene. 9047394

1997

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR Germ-line mutations of the p53 tumor suppressor gene in patients with high risk for cancer inactivate the p53 protein. 1631137

1992

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR Germline TP53 mutational spectrum in French Canadians with breast cancer. 25925845

2015

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer. 25503501

2015

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR Childhood adrenocortical carcinoma as a sentinel cancer for detecting families with germline TP53 mutations. 22233476

2012

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR DNA binding cooperativity of p53 modulates the decision between cell-cycle arrest and apoptosis. 20471942

2010

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR Tetramer formation of tumor suppressor protein p53: Structure, function, and applications. 26572807

2016

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR The Inherited p53 Mutation in the Brazilian Population. 27663983

2016

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR Early onset HER2-positive breast cancer is associated with germline TP53 mutations. 21761402

2012

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. 12826609

2003