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 Heterogeneity of Li-Fraumeni syndrome links to unequal gain-of-function effects of p53 mutations. 24573247

2014

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 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: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR The genetic landscape of high-risk neuroblastoma. 23334666

2013

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR Two hot spot mutant p53 mouse models display differential gain of function in tumorigenesis. 23538418

2013

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR The TP53 website: an integrative resource centre for the TP53 mutation database and TP53 mutant analysis. 23161690

2013

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma. 22811390

2013

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 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: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR The p53 isoform, Δ133p53α, stimulates angiogenesis and tumour progression. 22733133

2013

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR Li-Fraumeni and Li-Fraumeni-like syndrome among children diagnosed with pediatric cancer in Southern Brazil. 24122735

2013

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR Early onset HER2-positive breast cancer is associated with germline TP53 mutations. 21761402

2012

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR Childhood adrenocortical carcinoma as a sentinel cancer for detecting families with germline TP53 mutations. 22233476

2012

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR Childhood adrenocortical carcinoma as a sentinel cancer for detecting families with germline TP53 mutations. 22233476

2012

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR Early onset HER2-positive breast cancer is associated with germline TP53 mutations. 21761402

2012

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR Late onset Li-Fraumeni Syndrome with bilateral breast cancer and other malignancies: case report and review of the literature. 22672556

2012

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR Genetic mutations of p53 and k-ras in gastric carcinoma patients from Hunan, China. 21080251

2011

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation 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: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR Pleomorphic carcinoma of the lung arising in a patient with Li-Fraumeni syndrome: report of a case. 21626334

2011

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR Joint effects of germ-line TP53 mutation, MDM2 SNP309, and gender on cancer risk in family studies of Li-Fraumeni syndrome. 21305319

2011

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR Malignant peritoneal mesothelioma in a patient with Li-Fraumeni syndrome. 21464421

2011

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR Gastric cancer in individuals with Li-Fraumeni syndrome. 21552135

2011

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes. 21343334

2011

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR Association of the highly prevalent TP53 R337H mutation with pediatric choroid plexus carcinoma and osteosarcoma in southeast Brazil. 21192060

2011

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR Mutant p53(R175H) upregulates Twist1 expression and promotes epithelial-mesenchymal transition in immortalized prostate cells. 20689556

2011

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes. 21343334

2011

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR Gastric cancer in individuals with Li-Fraumeni syndrome. 21552135

2011