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 Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. 1978757

1990

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 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 CausalMutation CLINVAR Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms. 1565144

1992

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms. 1565144

1992

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR Screening for germ line TP53 mutations in breast cancer patients. 1591732

1992

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR Screening for germ line TP53 mutations in breast cancer patients. 1591732

1992

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome. 7887414

1995

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR Molecular analysis of the TP53 gene in Barrett's adenocarcinoma. 8829627

1996

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 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 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 CausalMutation CLINVAR Simple identification of dominant p53 mutants by a yeast functional assay. 9364015

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 TP53 in Li-Fraumeni families: an extended study of 39 families. 9242456

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 GeneticVariation CLINVAR Cancer phenotype correlates with constitutional TP53 genotype in families with the Li-Fraumeni syndrome. 9764816

1998

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 CausalMutation CLINVAR Absence of germline p16(INK4a) alterations in p53 wild type Li-Fraumeni syndrome families. 10922393

2000

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR P53 germline mutations in childhood cancers and cancer risk for carrier individuals. 10864200

2000

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR Tissue-specific expression of SV40 in tumors associated with the Li-Fraumeni syndrome. 11494139

2001

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome. 11370630

2001

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR Germline TP53 alterations in Finnish breast cancer families are rare and occur at conserved mutation-prone sites. 11139324

2001

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR p53, CHK2, and CHK1 genes in Finnish families with Li-Fraumeni syndrome: further evidence of CHK2 in inherited cancer predisposition. 11479205

2001

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR A novel mechanism of tumorigenesis involving pH-dependent destabilization of a mutant p53 tetramer. 11753428

2002

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR Tumour p53 mutations exhibit promoter selective dominance over wild type p53. 11896595

2002