Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 CausalMutation CLINVAR p53 mosaicism with an exon 8 germline mutation in the founder of a cancer-prone pedigree. 1359493

1992
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 CausalMutation CLINVAR Germ-line splicing mutation of the p53 gene in a cancer-prone family. 1467311

1992
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 GeneticVariation 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: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 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: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 CausalMutation CLINVAR These findings identify an important subgroup of young patients with cancer who carry germline mutations in the p53 tumor-suppressor gene but whose family histories are not indicative of the Li-Fraumeni syndrome. 1565144

1992
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 GeneticVariation CLINVAR Inherited p53 gene mutations in breast cancer. 1581912

1992
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 CausalMutation CLINVAR Inherited p53 gene mutations in breast cancer. 1581912

1992
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 CausalMutation CLINVAR Screening for germ line TP53 mutations in breast cancer patients. 1591732

1992
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 GeneticVariation CLINVAR Screening for germ line TP53 mutations in breast cancer patients. 1591732

1992
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 CausalMutation 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: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 CausalMutation CLINVAR Identification of a germ-line mutation in the p53 gene in a patient with an intracranial ependymoma. 1679237

1991
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 GeneticVariation CLINVAR Transforming activity of mutant human p53 alleles. 1918170

1991
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 GeneticVariation CLINVAR The frequency of germ line p53 mutations can now be examined in additional families with LFS, and in other cancer patients and families with clinical features that might be attributed to the mutation. 1978757

1990
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 CausalMutation CLINVAR The frequency of germ line p53 mutations can now be examined in additional families with LFS, and in other cancer patients and families with clinical features that might be attributed to the mutation. 1978757

1990
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 CausalMutation CLINVAR The p53 tumour suppressor gene. 2046748

1991
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 CausalMutation CLINVAR We have now analysed the p53 gene in a family affected by Li-Fraumeni syndrome, a rare autosomal dominant syndrome characterized by the occurrence of diverse mesenchymal and epithelial neoplasms at multiple sites. 2259385

1991
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 CausalMutation CLINVAR Mutations in the p53 gene occur in diverse human tumour types. 2531845

1989
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 CausalMutation CLINVAR p53: a frequent target for genetic abnormalities in lung cancer. 2554494

1989
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 GeneticVariation CLINVAR Severe, progressive herpetic whitlow caused by an acyclovir-resistant virus in a patient with AIDS. 2826609

1988
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 CausalMutation CLINVAR p53 gene mutations in pediatric brain tumors. 7565304

1995
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 CausalMutation CLINVAR Clinical significance of p53 mutations in newly diagnosed Burkitt's lymphoma and acute lymphoblastic leukemia: a report of 48 cases. 7707106

1995
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 CausalMutation CLINVAR A simple p53 functional assay for screening cell lines, blood, and tumors. 7732013

1995
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 CausalMutation CLINVAR Heterogeneity in Li-Fraumeni families: p53 mutation analysis and immunohistochemical staining. 7783166

1995
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 GeneticVariation CLINVAR A de novo p53 germline mutation affecting codon 151 in a six year old child with multiple tumors. 7881428

1994
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 CausalMutation CLINVAR A de novo p53 germline mutation affecting codon 151 in a six year old child with multiple tumors. 7881428

1994