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 GeneticVariation CLINVAR Familial sarcoma: challenging pedigrees. 14584079

2003
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 GeneticVariation CLINVAR TP53 tumor suppressor gene: a model for investigating human mutagenesis. 1377002

1992
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 GeneticVariation CLINVAR Rescuing the function of mutant p53. 11900253

2001
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 GeneticVariation CLINVAR Identification of novel TP53 mutations in familial and sporadic cancer cases of German and Swiss origin. 15381368

2004
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 GeneticVariation CLINVAR Screening for germ line TP53 mutations in breast cancer patients. 1591732

1992
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 GeneticVariation CLINVAR Inherited p53 gene mutations in breast cancer. 1581912

1992
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 GeneticVariation CLINVAR Isolation of temperature-sensitive p53 mutations from a comprehensive missense mutation library. 14559903

2004
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 GeneticVariation CLINVAR Crystal structure of a p53 tumor suppressor-DNA complex: understanding tumorigenic mutations. 8023157

1994
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 GeneticVariation CLINVAR Altered-function p53 missense mutations identified in breast cancers can have subtle effects on transactivation. 20407015

2010
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 GeneticVariation CLINVAR The germline TP53 mutation c.722 C>T promotes bone and liver tumorigenesis at a young age. 22887876

2012
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 GeneticVariation CLINVAR Wild-type and Hupki (human p53 knock-in) murine embryonic fibroblasts: p53/ARF pathway disruption in spontaneous escape from senescence. 20118236

2010
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 Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers. 26014290

2015
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 GeneticVariation CLINVAR Structural and functional impact of cancer-related missense somatic mutations. 21763698

2011
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 GeneticVariation CLINVAR Expression of circulating miRNAs associated with lymphocyte differentiation and activation in CLL-another piece in the puzzle. 27730344

2017
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 GeneticVariation CLINVAR Li-Fraumeni and Li-Fraumeni-like syndrome mutations in p53 are associated with exonic methylation and splicing regulatory elements. 19367569

2009
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 GeneticVariation CLINVAR Predicting the functional effect of amino acid substitutions and indels. 23056405

2012
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 GeneticVariation CLINVAR Anaplastic Wilms' tumour, a subtype displaying poor prognosis, harbours p53 gene mutations. 8075648

1994
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 GeneticVariation CLINVAR p53 gene mutations in esophageal squamous cell carcinoma and their relevance to etiology and pathogenesis: results in Japan and comparisons with other countries. 17573896

2007
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 GeneticVariation CLINVAR Analysis of the most representative tumour-derived p53 mutants reveals that changes in protein conformation are not correlated with loss of transactivation or inhibition of cell proliferation. 8062826

1994
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 GeneticVariation CLINVAR Association of the germline TP53 R337H mutation with breast cancer in southern Brazil. 19046423

2008
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 GeneticVariation CLINVAR Dissection of the sequence-specific DNA binding and exonuclease activities reveals a superactive yet apoptotically impaired mutant p53 protein. 19462533

2009
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 GeneticVariation CLINVAR Prevalence of germline TP53 mutations in a prospective series of unselected patients with adrenocortical carcinoma. 23175693

2013
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 GeneticVariation CLINVAR High frequency of de novo mutations in Li-Fraumeni syndrome. 19556618

2009