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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 CausalMutation CLINVAR "Apparently ""BRCA-related"" breast and ovarian cancer patient with germline TP53 mutation." 21535297

2011
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 CausalMutation CLINVAR 17p Deletion in acute myeloid leukemia and myelodysplastic syndrome. Analysis of breakpoints and deleted segments by fluorescence in situ. 9446663

1998
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 GeneticVariation CLINVAR 2009 version of the Chompret criteria for Li Fraumeni syndrome. 19652052

2009
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 GeneticVariation CLINVAR A comprehensive study of TP53 mutations in chronic lymphocytic leukemia: Analysis of 1287 diagnostic and 1148 follow-up CLL samples. 21232794

2011
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 CausalMutation CLINVAR A constitutional de novo mutation in exon 8 of the p53 gene in a patient with multiple primary malignancies. 8688334

1996
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 CausalMutation CLINVAR A germ line mutation in exon 5 of the p53 gene in an extended cancer family. 1933902

1991
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 CausalMutation CLINVAR A germline missense mutation R337C in exon 10 of the human p53 gene. 9452042

1998
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 GeneticVariation CLINVAR A global suppressor motif for p53 cancer mutants. 15037740

2004
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 CausalMutation CLINVAR A global suppressor motif for p53 cancer mutants. 15037740

2004
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 GeneticVariation CLINVAR A modified yeast assay used on archival samples of localized prostate cancer tissue improves the detection of p53 abnormalities and increases their predictive value. 15541116

2004
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 CausalMutation CLINVAR A molecular signature of normal breast epithelial and stromal cells from Li-Fraumeni syndrome mutation carriers. 21311097

2010
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 CausalMutation CLINVAR A new germline TP53 gene mutation in a family with Li-Fraumeni syndrome. 8869100

1996
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 CausalMutation CLINVAR A novel p53 mutant found in iatrogenic urothelial cancers is dysfunctional and can be rescued by a second-site global suppressor mutation. 23612969

2013
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 GeneticVariation CLINVAR A novel p53 mutant retained functional activity in lung carcinomas. 12509279

2002
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 GeneticVariation CLINVAR A novel TP53 germline inframe deletion identified in a Spanish series of Li-fraumeni syndrome suspected families. 28573494

2017
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 CausalMutation CLINVAR A novel TP53 germline mutation in a family with a history of multiple malignancies: case report and review of the literature. 19127094

2008
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 GeneticVariation CLINVAR A novel TP53 germline mutation in a family with a history of multiple malignancies: case report and review of the literature. 19127094

2008
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 GeneticVariation CLINVAR A simple p53 functional assay for screening cell lines, blood, and tumors. 7732013

1995
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 GeneticVariation CLINVAR A transforming p53 mutant, which binds DNA, transactivates and induces apoptosis reveals a nuclear:cytoplasmic shuttling defect. 9525742

1998
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 GeneticVariation CLINVAR Actionable exomic incidental findings in 6503 participants: challenges of variant classification. 25637381

2015
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 CausalMutation CLINVAR Acute lymphoblastic leukemia after temozolomide treatment for anaplastic astrocytoma in a child with a germline TP53 mutation. 20658636

2010