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 CausalMutation CLINVAR Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. 12826609

2003

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR A Li-Fraumeni syndrome family with retained heterozygosity for a germline TP53 mutation in two tumors. 12885464

2003

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR p53 polymorphism influences response in cancer chemotherapy via modulation of p73-dependent apoptosis. 12726864

2003

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

2003

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR Isolation of temperature-sensitive p53 mutations from a comprehensive missense mutation library. 14559903

2004

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR Rhabdomyosarcoma, osteosarcoma, and adrenocortical carcinoma in a child with a germline p53 mutation. 15390294

2004

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR Rhabdomyosarcoma, osteosarcoma, and adrenocortical carcinoma in a child with a germline p53 mutation. 15390294

2004

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR Functional protein microarrays for parallel characterisation of p53 mutants. 15221755

2004

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR The TP53 mutational spectrum and frequency of CHEK2*1100delC in Li-Fraumeni-like kindreds. 15951970

2005

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 Prevalence of early onset colorectal cancer in 397 patients with classic Li-Fraumeni syndrome. 16401470

2006

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation. 16033918

2006

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. 16551709

2006

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR Recognition of Li Fraumeni syndrome at diagnosis of a locally advanced extremity rhabdomyosarcoma. 16534790

2007

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database. 17311302

2007

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR Identification and characterization of a novel germ line p53 mutation in familial gastric cancer in the Japanese population. 17690113

2007

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR Transcriptional functionality of germ line p53 mutants influences cancer phenotype. 17606709

2007

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR The over-expression of p53 H179Y residue mutation causes the increase of cyclin A1 and Cdk4 expression in HELF cells. 17530187

2007

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR Transcriptional functionality of germ line p53 mutants influences cancer phenotype. 17606709

2007

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families. 16494995

2007

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families. 18511570

2008

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 GeneticVariation CLINVAR Mutant p53 protein localized in the cytoplasm inhibits autophagy. 18818522

2008

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families. 18511570

2008

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR Choroid plexus carcinoma: a new case associated with a novel TP53 germ line mutation. 18208484

2008