TP53, tumor protein p53, 7157

N. diseases: 2494; N. variants: 527
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
1.000 GermlineCausalMutation disease ORPHANET Screening for TP53 mutations in osteosarcomas using constant denaturant gel electrophoresis (CDGE). 8401536 1993
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
1.000 GermlineCausalMutation disease ORPHANET Rearranged p53 genes were also found in human osteogenic sarcoma cell lines. 2823272 1987
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
1.000 GermlineCausalMutation disease 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
CUI: C0205770
Disease: Choroid Plexus Papilloma
Choroid Plexus Papilloma
0.740 GermlineCausalMutation disease ORPHANET Investigations on a clinically and functionally unusual and novel germline p53 mutation. 12085209 2002
CUI: C0431109
Disease: Choroid Plexus Carcinoma
Choroid Plexus Carcinoma
0.500 GermlineCausalMutation disease ORPHANET Increased incidence of choroid plexus carcinoma due to the germline TP53 R337H mutation in southern Brazil. 21445348 2011
Malignant neoplasm of connective and other soft tissue, site unspecified
0.200 ModifyingMutation group RGD Homozygous and heterozygous p53 knockout rats develop metastasizing sarcomas with high frequency. 21854749 2011
CUI: C0205969
Disease: Thymic Carcinoma
Thymic Carcinoma
0.560 GenomicAlterations disease CGI
CUI: C3714644
Disease: Thymus Neoplasms
Thymus Neoplasms
0.510 GenomicAlterations group CGI
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas
0.400 GenomicAlterations group CGI
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 CausalMutation disease CGI
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 CausalMutation disease CLINVAR
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
1.000 CausalMutation disease CLINVAR
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 CausalMutation disease CLINVAR Tumour p53 mutations exhibit promoter selective dominance over wild type p53. 11896595 2002
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 CausalMutation disease CLINVAR Heterogeneity in Li-Fraumeni families: p53 mutation analysis and immunohistochemical staining. 7783166 1995
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 CausalMutation disease CLINVAR Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families. 9242456 1997
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 CausalMutation disease CLINVAR Rapid profiling of disease alleles using a tunable reporter of protein misfolding. 22923379 2012
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 CausalMutation disease CLINVAR Crystal structure of a p53 tumor suppressor-DNA complex: understanding tumorigenic mutations. 8023157 1994
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 CausalMutation disease CLINVAR Number of rare germline CNVs and TP53 mutation types. 23259501 2012
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 CausalMutation disease CLINVAR Novel p53 mutants selected in BRCA-associated tumours which dissociate transformation suppression from other wild-type p53 functions. 10229196 1999
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 CausalMutation disease CLINVAR Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. 8118819 1994
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 CausalMutation disease 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
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 CausalMutation disease 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
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 CausalMutation disease CLINVAR The Clinical Utility of Next Generation Sequencing Results in a Community-Based Hereditary Cancer Risk Program. 27276934 2017
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 CausalMutation disease CLINVAR Sebaceous gland carcinoma of the eyelid masquerading as a cutaneous horn in Li--Fraumeni syndrome. 20693561 2011
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 CausalMutation disease 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