Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Li-Fraumeni Syndrome
|
0.810 | CausalMutation | CLINVAR | Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma. | 1565143 | 1992 | |||||
Li-Fraumeni Syndrome
|
0.810 | CausalMutation | CLINVAR | Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma. | 1565143 | 1992 | |||||
Li-Fraumeni Syndrome
|
0.810 | GeneticVariation | UNIPROT | Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms. | 1565144 | 1992 | |||||
Li-Fraumeni Syndrome
|
0.810 | CausalMutation | CLINVAR | Screening for germ line TP53 mutations in breast cancer patients. | 1591732 | 1992 | |||||
Li-Fraumeni Syndrome
|
0.810 | CausalMutation | CLINVAR | Germ-line mutations of the p53 tumor suppressor gene in patients with high risk for cancer inactivate the p53 protein. | 1631137 | 1992 | |||||
Li-Fraumeni Syndrome
|
0.810 | GeneticVariation | UNIPROT | Hereditary and acquired p53 gene mutations in childhood acute lymphoblastic leukemia. | 1737852 | 1992 | |||||
Li-Fraumeni Syndrome
|
0.810 | GeneticVariation | UNIPROT | A germ line mutation in exon 5 of the p53 gene in an extended cancer family. | 1933902 | 1991 | |||||
Li-Fraumeni Syndrome
|
0.810 | GeneticVariation | UNIPROT | Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. | 1978757 | 1990 | |||||
Li-Fraumeni Syndrome
|
0.810 | CausalMutation | CLINVAR | Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. | 1978757 | 1990 | |||||
Li-Fraumeni Syndrome
|
0.810 | GeneticVariation | UNIPROT | Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome. | 2259385 | 1991 | |||||
Li-Fraumeni Syndrome
|
0.810 | CausalMutation | CLINVAR | p53 gene mutations in pediatric brain tumors. | 7565304 | 1995 | |||||
Li-Fraumeni Syndrome
|
0.810 | CausalMutation | CLINVAR | Heterogeneity in Li-Fraumeni families: p53 mutation analysis and immunohistochemical staining. | 7783166 | 1995 | |||||
Li-Fraumeni Syndrome
|
0.810 | GeneticVariation | UNIPROT | Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome. | 7887414 | 1995 | |||||
Li-Fraumeni Syndrome
|
0.810 | CausalMutation | CLINVAR | Incidence of germ-line p53 mutations in patients with gliomas. | 8550239 | 1995 | |||||
Li-Fraumeni Syndrome
|
0.810 | GeneticVariation | UNIPROT | An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53. | 8825920 | 1995 | |||||
Li-Fraumeni Syndrome
|
0.810 | CausalMutation | CLINVAR | Li-Fraumeni syndrome--a molecular and clinical review. | 9218725 | 1997 | |||||
Li-Fraumeni Syndrome
|
0.810 | CausalMutation | CLINVAR | Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families. | 9242456 | 1997 | |||||
Li-Fraumeni Syndrome
|
0.810 | GeneticVariation | UNIPROT | A germline missense mutation R337C in exon 10 of the human p53 gene. | 9452042 | 1998 | |||||
Li-Fraumeni Syndrome
|
0.810 | CausalMutation | CLINVAR | Comprehensive mutational scanning of the p53 coding region by two-dimensional gene scanning. | 9667734 | 1998 | |||||
Li-Fraumeni Syndrome
|
0.810 | GeneticVariation | UNIPROT | Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family. | 10484981 | 1999 | |||||
Li-Fraumeni Syndrome
|
0.810 | CausalMutation | CLINVAR | Dominant-negative mutations of the tumor suppressor p53 relating to early onset of glioblastoma multiforme. | 10519380 | 1999 | |||||
Li-Fraumeni Syndrome
|
0.810 | CausalMutation | CLINVAR | Absence of germline p16(INK4a) alterations in p53 wild type Li-Fraumeni syndrome families. | 10922393 | 2000 | |||||
Li-Fraumeni Syndrome
|
0.810 | CausalMutation | CLINVAR | Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome. | 11370630 | 2001 | |||||
Li-Fraumeni Syndrome
|
0.810 | GeneticVariation | UNIPROT | American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. | 12692171 | 2003 | |||||
Li-Fraumeni Syndrome
|
0.810 | CausalMutation | CLINVAR | Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. | 12826609 | 2003 |