Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
ovarian neoplasm
|
0.700 | GeneticVariation | CLINVAR | ||||||||
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
|
0.700 | CausalMutation | CLINVAR | Comprehensive mutational scanning of the p53 coding region by two-dimensional gene scanning. | 9667734 | 1998 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | GeneticVariation | CLINVAR | Comprehensive mutational scanning of the p53 coding region by two-dimensional gene scanning. | 9667734 | 1998 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | GeneticVariation | CLINVAR | Crystal structure of a p53 tumor suppressor-DNA complex: understanding tumorigenic mutations. | 8023157 | 1994 | |||||
Li-Fraumeni Syndrome
|
0.700 | CausalMutation | CLINVAR | Gain of function of mutant p53 by coaggregation with multiple tumor suppressors. | 21445056 | 2011 | |||||
Li-Fraumeni Syndrome
|
0.700 | CausalMutation | CLINVAR | Gain of function of mutant p53 by coaggregation with multiple tumor suppressors. | 21445056 | 2011 | |||||
Li-Fraumeni Syndrome
|
0.700 | CausalMutation | CLINVAR | Gastric cancer in individuals with Li-Fraumeni syndrome. | 21552135 | 2011 | |||||
Li-Fraumeni Syndrome
|
0.700 | CausalMutation | CLINVAR | Gastric cancer in individuals with Li-Fraumeni syndrome. | 21552135 | 2011 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | GeneticVariation | CLINVAR | Gastric cancer in individuals with Li-Fraumeni syndrome. | 21552135 | 2011 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | GeneticVariation | CLINVAR | Gastric cancer in individuals with Li-Fraumeni syndrome. | 21552135 | 2011 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | GeneticVariation | CLINVAR | Heterogeneity in the clinical phenotype of TP53 mutations in breast cancer patients. | 11051239 | 2000 | |||||
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
|
0.700 | GeneticVariation | CLINVAR | High frequency of germline TP53 mutations in a prospective adult-onset sarcoma cohort. | 23894400 | 2013 | |||||
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
|
0.700 | GeneticVariation | CLINVAR | High frequency of germline TP53 mutations in a prospective adult-onset sarcoma cohort. | 23894400 | 2013 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | GeneticVariation | CLINVAR | Mapping the p53 transcriptome universe using p53 natural polymorphs. | 24076587 | 2014 | |||||
Li-Fraumeni Syndrome
|
0.700 | CausalMutation | CLINVAR | Mapping the p53 transcriptome universe using p53 natural polymorphs. | 24076587 | 2014 | |||||
Li-Fraumeni Syndrome
|
0.700 | CausalMutation | CLINVAR | Mapping the p53 transcriptome universe using p53 natural polymorphs. | 24076587 | 2014 | |||||
Li-Fraumeni Syndrome
|
0.700 | CausalMutation | CLINVAR | Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families. | 18511570 | 2008 | |||||
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
|
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 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | GeneticVariation | CLINVAR | Prevalence of germline TP53 mutations in HER2+ breast cancer patients. | 23580068 | 2013 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | GeneticVariation | CLINVAR | Recommendations for analyzing and reporting TP53 gene variants in the high-throughput sequencing era. | 24729566 | 2014 | |||||
Li-Fraumeni Syndrome
|
0.700 | CausalMutation | CLINVAR | Screening the p53 status of human cell lines using a yeast functional assay. | 9290701 | 1997 |