Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		1.000 GermlineCausalMutation ORPHANET Screening for TP53 mutations in osteosarcomas using constant denaturant gel electrophoresis (CDGE). 8401536

1993
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		1.000 GermlineCausalMutation ORPHANET Rearranged p53 genes were also found in human osteogenic sarcoma cell lines. 2823272

1987
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		1.000 GermlineCausalMutation ORPHANET A germ-line p53 mutation was detected in one of these patients, and a further rearrangement of the residual wild-type allele was detected in tumor tissue. p53 germ-line mutations can contribute to the enhanced predisposition to tumor development manifest in patients with multifocal osteosarcoma. 1349175

1992
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0205770
Disease: Choroid Plexus Papilloma
Choroid Plexus Papilloma 		0.740 GermlineCausalMutation ORPHANET Investigations on a clinically and functionally unusual and novel germline p53 mutation. 12085209

2002
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0431109
Disease: Choroid Plexus Carcinoma
Choroid Plexus Carcinoma 		0.500 GermlineCausalMutation ORPHANET Increased incidence of choroid plexus carcinoma due to the germline TP53 R337H mutation in southern Brazil. 21445348

2011
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0153519
Disease: Malignant neoplasm of connective and other soft tissue, site unspecified
Malignant neoplasm of connective and other soft tissue, site unspecified 		0.200 ModifyingMutation RGD Homozygous and heterozygous p53 knockout rats develop metastasizing sarcomas with high frequency. 21854749

2011
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0205969
Disease: Thymic Carcinoma
Thymic Carcinoma 		0.560 GenomicAlterations CGI

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C3714644
Disease: Thymus Neoplasms
Thymus Neoplasms 		0.510 GenomicAlterations CGI

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas 		0.400 GenomicAlterations CGI

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		1.000 CausalMutation CGI

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		1.000 CausalMutation CLINVAR

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		1.000 CausalMutation CLINVAR

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 CausalMutation CLINVAR Tumour p53 mutations exhibit promoter selective dominance over wild type p53. 11896595

2002
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 CausalMutation CLINVAR Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families. 9242456

1997
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 CausalMutation CLINVAR Rapid profiling of disease alleles using a tunable reporter of protein misfolding. 22923379

2012
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 CausalMutation CLINVAR Crystal structure of a p53 tumor suppressor-DNA complex: understanding tumorigenic mutations. 8023157

1994
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 CausalMutation CLINVAR Number of rare germline CNVs and TP53 mutation types. 23259501

2012
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 CausalMutation CLINVAR Novel p53 mutants selected in BRCA-associated tumours which dissociate transformation suppression from other wild-type p53 functions. 10229196

1999
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 CausalMutation CLINVAR Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. 8118819

1994
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 CausalMutation CLINVAR Quantitative analysis of residual folding and DNA binding in mutant p53 core domain: definition of mutant states for rescue in cancer therapy. 10713666

2000
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 CausalMutation CLINVAR A Japanese patient with Li-Fraumeni syndrome who had nine primary malignancies associated with a germline mutation of the p53 tumor-suppressor gene. 18307025

2008
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 CausalMutation CLINVAR The Clinical Utility of Next Generation Sequencing Results in a Community-Based Hereditary Cancer Risk Program. 27276934

2017
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 CausalMutation CLINVAR Sebaceous gland carcinoma of the eyelid masquerading as a cutaneous horn in Li--Fraumeni syndrome. 20693561

2011
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 CausalMutation CLINVAR In order to determine the frequency and distribution of germ-line p53 mutations in LFS, we sequenced the 10 coding exons of the p53 gene in lymphocytes and fibroblast cell lines derived from 15 families with the syndrome. 7887414

1995