Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Li-Fraumeni Syndrome
|
0.800 | GeneticVariation | CLINVAR | ||||||||
LI-FRAUMENI SYNDROME 1
|
0.700 | CausalMutation | CLINVAR | ||||||||
ovarian neoplasm
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Li-Fraumeni Syndrome
|
0.800 | CausalMutation | CLINVAR | Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma. | 1565143 | 1992 | |||||
Li-Fraumeni Syndrome
|
0.800 | CausalMutation | CLINVAR | Screening for germ line TP53 mutations in breast cancer patients. | 1591732 | 1992 | |||||
Li-Fraumeni Syndrome
|
0.800 | CausalMutation | CLINVAR | Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome. | 2259385 | 1991 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | CausalMutation | CLINVAR | Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome. | 2259385 | 1991 | |||||
Li-Fraumeni Syndrome
|
0.800 | CausalMutation | CLINVAR | Heterogeneity in Li-Fraumeni families: p53 mutation analysis and immunohistochemical staining. | 7783166 | 1995 | |||||
Li-Fraumeni Syndrome
|
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 | |||||
Li-Fraumeni Syndrome
|
0.800 | CausalMutation | CLINVAR | A Li-Fraumeni syndrome family with retained heterozygosity for a germline TP53 mutation in two tumors. | 12885464 | 2003 | |||||
Li-Fraumeni Syndrome
|
0.800 | CausalMutation | CLINVAR | Transcriptional functionality of germ line p53 mutants influences cancer phenotype. | 17606709 | 2007 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | CausalMutation | CLINVAR | Transcriptional functionality of germ line p53 mutants influences cancer phenotype. | 17606709 | 2007 | |||||
Li-Fraumeni Syndrome
|
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 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | CausalMutation | CLINVAR | Analysis of the DNA-binding activity of p53 mutants using functional protein microarrays and its relationship to transcriptional activation. | 20128691 | 2010 | |||||
Li-Fraumeni Syndrome
|
0.800 | CausalMutation | CLINVAR | A comprehensive study of TP53 mutations in chronic lymphocytic leukemia: Analysis of 1287 diagnostic and 1148 follow-up CLL samples. | 21232794 | 2011 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | CausalMutation | CLINVAR | Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes. | 21343334 | 2011 | |||||
Li-Fraumeni Syndrome
|
0.800 | CausalMutation | CLINVAR | TP53 mutations and polymorphisms in primary myelofibrosis. | 22052707 | 2012 | |||||
Li-Fraumeni Syndrome
|
0.800 | CausalMutation | CLINVAR | Two hot spot mutant p53 mouse models display differential gain of function in tumorigenesis. | 23538418 | 2013 | |||||
Li-Fraumeni Syndrome
|
0.800 | CausalMutation | CLINVAR | The p53-reactivating small molecule RITA induces senescence in head and neck cancer cells. | 25119136 | 2014 | |||||
Liver carcinoma
|
0.710 | GeneticVariation | CLINVAR | Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. | 26619011 | 2016 | |||||
Glioblastoma
|
0.710 | GeneticVariation | CLINVAR | Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. | 26619011 | 2016 | |||||
Glioblastoma
|
0.710 | GeneticVariation | CLINVAR | Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. | 26619011 | 2016 | |||||
Liver carcinoma
|
0.710 | GeneticVariation | CLINVAR | Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. | 26619011 | 2016 | |||||
Squamous cell carcinoma of the head and neck
|
0.710 | GeneticVariation | CLINVAR | Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. | 26619011 | 2016 | |||||
Liver carcinoma
|
0.710 | GeneticVariation | CLINVAR | Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. | 26619011 | 2016 |