| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Li-Fraumeni Syndrome
|
0.700 | CausalMutation | CLINVAR | Mutational processes shape the landscape of TP53 mutations in human cancer. | 30224644 | 2018 | |||||
Li-Fraumeni Syndrome
|
0.700 | CausalMutation | CLINVAR | Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. | 28724667 | 2017 | |||||
Li-Fraumeni Syndrome
|
0.700 | CausalMutation | CLINVAR | TP53 mutations in de novo acute myeloid leukemia patients: longitudinal follow-ups show the mutation is stable during disease evolution. | 26230955 | 2015 | |||||
Li-Fraumeni Syndrome
|
0.700 | CausalMutation | CLINVAR | A prognostic signature of defective p53-dependent G1 checkpoint function in melanoma cell lines. | 22540896 | 2012 | |||||
Li-Fraumeni Syndrome
|
0.700 | CausalMutation | CLINVAR | A prognostic signature of defective p53-dependent G1 checkpoint function in melanoma cell lines. | 22540896 | 2012 | |||||
Li-Fraumeni Syndrome
|
0.700 | CausalMutation | CLINVAR | High frequency of de novo mutations in Li-Fraumeni syndrome. | 19556618 | 2009 | |||||
Li-Fraumeni Syndrome
|
0.700 | CausalMutation | CLINVAR | High frequency of de novo mutations in Li-Fraumeni syndrome. | 19556618 | 2009 | |||||
Li-Fraumeni Syndrome
|
0.700 | CausalMutation | CLINVAR | The presence of TP53 mutation at diagnosis of follicular lymphoma identifies a high-risk group of patients with shortened time to disease progression and poorer overall survival. | 18628487 | 2008 | |||||
Li-Fraumeni Syndrome
|
0.700 | CausalMutation | CLINVAR | Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database. | 17311302 | 2007 | |||||
Li-Fraumeni Syndrome
|
0.700 | CausalMutation | CLINVAR | Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database. | 17311302 | 2007 | |||||
Li-Fraumeni Syndrome
|
0.700 | CausalMutation | CLINVAR | Telomerase expression is sufficient for chromosomal integrity in cells lacking p53 dependent G1 checkpoint function. | 16209708 | 2005 | |||||
Li-Fraumeni Syndrome
|
0.700 | CausalMutation | CLINVAR | Telomerase expression is sufficient for chromosomal integrity in cells lacking p53 dependent G1 checkpoint function. | 16209708 | 2005 | |||||
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
|
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 |