rs11540654, TP53

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Recommendations for analyzing and reporting TP53 gene variants in the high-throughput sequencing era. 24729566 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Mapping the p53 transcriptome universe using p53 natural polymorphs. 24076587 2014
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.700 CausalMutation CLINVAR Mapping the p53 transcriptome universe using p53 natural polymorphs. 24076587 2014
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.700 CausalMutation CLINVAR Mapping the p53 transcriptome universe using p53 natural polymorphs. 24076587 2014
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.700 CausalMutation CLINVAR Validation of a yeast functional assay for p53 mutations using clonal sequencing. 23897043 2013
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.700 CausalMutation CLINVAR High frequency of germline TP53 mutations in a prospective adult-onset sarcoma cohort. 23894400 2013
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Prevalence of germline TP53 mutations in HER2+ breast cancer patients. 23580068 2013
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR High frequency of germline TP53 mutations in a prospective adult-onset sarcoma cohort. 23894400 2013
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.700 CausalMutation CLINVAR High frequency of germline TP53 mutations in a prospective adult-onset sarcoma cohort. 23894400 2013
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR High frequency of germline TP53 mutations in a prospective adult-onset sarcoma cohort. 23894400 2013
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.700 CausalMutation CLINVAR Validation of a yeast functional assay for p53 mutations using clonal sequencing. 23897043 2013
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.700 CausalMutation CLINVAR Gastric cancer in individuals with Li-Fraumeni syndrome. 21552135 2011
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.700 CausalMutation CLINVAR Gastric cancer in individuals with Li-Fraumeni syndrome. 21552135 2011
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.700 CausalMutation CLINVAR Gain of function of mutant p53 by coaggregation with multiple tumor suppressors. 21445056 2011
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Gastric cancer in individuals with Li-Fraumeni syndrome. 21552135 2011
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.700 CausalMutation CLINVAR Gain of function of mutant p53 by coaggregation with multiple tumor suppressors. 21445056 2011
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Gastric cancer in individuals with Li-Fraumeni syndrome. 21552135 2011
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.700 CausalMutation CLINVAR Analysis of transactivation capability and conformation of p53 temperature-dependent mutants and their reactivation by amifostine in yeast. 17724467 2008
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.700 CausalMutation CLINVAR Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families. 18511570 2008
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Somatic sequence alterations in twenty-one genes selected by expression profile analysis of breast carcinomas. 17224074 2007
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.700 CausalMutation CLINVAR Mutant p53 induces the GEF-H1 oncogene, a guanine nucleotide exchange factor-H1 for RhoA, resulting in accelerated cell proliferation in tumor cells. 16778209 2006
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.700 CausalMutation CLINVAR Mutant p53 induces the GEF-H1 oncogene, a guanine nucleotide exchange factor-H1 for RhoA, resulting in accelerated cell proliferation in tumor cells. 16778209 2006
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.700 CausalMutation CLINVAR Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. 12826609 2003
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.700 CausalMutation CLINVAR Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. 12826609 2003
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Heterogeneity in the clinical phenotype of TP53 mutations in breast cancer patients. 11051239 2000