TP53, tumor protein p53, 7157

N. diseases: 2494; N. variants: 527
Disease: Li-Fraumeni Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913343
rs121913343
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		A 0.800 GeneticVariation CLINVAR Distinct residues of human p53 implicated in binding to DNA, simian virus 40 large T antigen, 53BP1, and 53BP2. 7969167 1994
dbSNP: rs121913343
rs121913343
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.800 GeneticVariation CLINVAR EGFR-mutant lung adenocarcinoma in a patient with Li-Fraumeni syndrome. 17540308 2007
dbSNP: rs121913343
rs121913343
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		C 0.800 CausalMutation CLINVAR Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms. 1565144 1992
dbSNP: rs121913343
rs121913343
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		A 0.800 CausalMutation CLINVAR Mutants TP53 p.R273H and p.R273C but not p.R273G enhance cancer cell malignancy. 24677579 2014
dbSNP: rs121913343
rs121913343
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		C 0.800 CausalMutation CLINVAR Gastric cancer in individuals with Li-Fraumeni syndrome. 21552135 2011
dbSNP: rs121913343
rs121913343
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		A 0.800 GeneticVariation CLINVAR High frequency of de novo mutations in Li-Fraumeni syndrome. 19556618 2009
dbSNP: rs121913343
rs121913343
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		A 0.800 CausalMutation CLINVAR Constitutional mutation in exon 8 of the p53 gene in a patient with multiple primary tumours: molecular and immunohistochemical findings. 8479749 1993
dbSNP: rs121913343
rs121913343
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		A 0.800 CausalMutation CLINVAR Gastric cancer in individuals with Li-Fraumeni syndrome. 21552135 2011
dbSNP: rs121913343
rs121913343
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		A 0.800 CausalMutation CLINVAR "Apparently ""BRCA-related"" breast and ovarian cancer patient with germline TP53 mutation." 21535297 2011
dbSNP: rs121913343
rs121913343
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.800 GeneticVariation CLINVAR Transcriptional functionality of germ line p53 mutants influences cancer phenotype. 17606709 2007
dbSNP: rs121913343
rs121913343
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		C 0.800 CausalMutation CLINVAR Transcriptional functionality of germ line p53 mutants influences cancer phenotype. 17606709 2007
dbSNP: rs121913343
rs121913343
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.800 GeneticVariation CLINVAR "Apparently ""BRCA-related"" breast and ovarian cancer patient with germline TP53 mutation." 21535297 2011
dbSNP: rs121913343
rs121913343
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		A 0.800 CausalMutation CLINVAR Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. 12826609 2003
dbSNP: rs121913343
rs121913343
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		C 0.800 CausalMutation CLINVAR Sebaceous gland carcinoma of the eyelid masquerading as a cutaneous horn in Li--Fraumeni syndrome. 20693561 2011
dbSNP: rs121913343
rs121913343
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		A 0.800 CausalMutation CLINVAR Transcriptional functionality of germ line p53 mutants influences cancer phenotype. 17606709 2007
dbSNP: rs121913343
rs121913343
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		A 0.800 CausalMutation CLINVAR Analysis of the DNA-binding activity of p53 mutants using functional protein microarrays and its relationship to transcriptional activation. 20128691 2010
dbSNP: rs121913343
rs121913343
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.800 GeneticVariation CLINVAR Gastric cancer in individuals with Li-Fraumeni syndrome. 21552135 2011
dbSNP: rs121913343
rs121913343
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.800 GeneticVariation CLINVAR Constitutional mutation in exon 8 of the p53 gene in a patient with multiple primary tumours: molecular and immunohistochemical findings. 8479749 1993
dbSNP: rs121913343
rs121913343
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.800 GeneticVariation CLINVAR Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. 12826609 2003
dbSNP: rs121913343
rs121913343
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		C 0.800 CausalMutation CLINVAR "Apparently ""BRCA-related"" breast and ovarian cancer patient with germline TP53 mutation." 21535297 2011
dbSNP: rs121913343
rs121913343
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.800 GeneticVariation CLINVAR Severe, progressive herpetic whitlow caused by an acyclovir-resistant virus in a patient with AIDS. 2826609 1988
dbSNP: rs121913343
rs121913343
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		C 0.800 CausalMutation CLINVAR Constitutional mutation in exon 8 of the p53 gene in a patient with multiple primary tumours: molecular and immunohistochemical findings. 8479749 1993
dbSNP: rs121913343
rs121913343
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		0.800 GeneticVariation UNIPROT Hereditary and acquired p53 gene mutations in childhood acute lymphoblastic leukemia. 1737852 1992
dbSNP: rs121913343
rs121913343
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		0.800 GeneticVariation UNIPROT American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. 17392385 2007
dbSNP: rs121913343
rs121913343
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		0.800 GeneticVariation UNIPROT Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. 1978757 1990