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 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 CausalMutation CLINVAR Identification of a novel germ-line mutation in the TP53 gene in a Mexican family with Li-Fraumeni syndrome. 20017945

2009
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 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 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 CausalMutation CLINVAR Prevalence and functional consequence of TP53 mutations in pediatric adrenocortical carcinoma: a children's oncology group study. 25584008

2015
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 CausalMutation CLINVAR Dominant-negative p53 mutations selected in yeast hit cancer hot spots. 8633021

1996
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 CausalMutation CLINVAR p53 Tetramerization domain mutations: germline R342X and R342P, and somatic R337G identified in pediatric patients with Li-Fraumeni syndrome and a child with adrenocortical carcinoma. 19714490

2009
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 CausalMutation CLINVAR Detection of R337H, a germline TP53 mutation predisposing to multiple cancers, in asymptomatic women participating in a breast cancer screening program in Southern Brazil. 18248785

2008
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 GeneticVariation CLINVAR High frequency of de novo mutations in Li-Fraumeni syndrome. 19556618

2009
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 CausalMutation CLINVAR Gain-of-function mutations of the p53 gene induce lymphohematopoietic metastatic potential and tissue invasiveness. 8080050

1994
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 CausalMutation CLINVAR Spontaneous in vitro immortalization of breast epithelial cells from a patient with Li-Fraumeni syndrome. 7799951

1995
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 GeneticVariation CLINVAR High frequency of TP53 mutation in BRCA1 and sporadic basal-like carcinomas but not in BRCA1 luminal breast tumors. 19147582

2009
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 CausalMutation CLINVAR Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect. 19877175

2010
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 CausalMutation CLINVAR DNA methylation patterns of candidate genes regulated by thymine DNA glycosylase in patients with TP53 germline mutations. 25945745

2015
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 GeneticVariation CLINVAR Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study. 21601526

2011
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 GeneticVariation CLINVAR The contribution of the Trp/Met/Phe residues to physical interactions of p53 with cellular proteins. 16204849

2005
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.170 CausalMutation CLINVAR Integrating mutation data and structural analysis of the TP53 tumor-suppressor protein. 11793474

2002