Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation disease BEFREE Li-Fraumeni syndrome fibroblasts homozygous for p53 mutations are deficient in global DNA repair but exhibit normal transcription-coupled repair and enhanced UV resistance. 7568035 1995
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation disease BEFREE Li-Fraumeni syndrome fibroblasts expressing only mutant p53 are more UV-resistant and exhibit less UV-induced apoptosis than normal human cells or heterozygotes for mutations in only one allele of p53. 8781381 1996
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 Biomarker disease BEFREE Li-Fraumeni syndrome and the role of the p53 tumor suppressor gene in cancer susceptibility. 9504235 1998
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 Biomarker disease BEFREE TP53, hChk2, and the Li-Fraumeni syndrome. 12710683 2003
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation disease BEFREE TP53 PIN3 and MDM2 SNP309 polymorphisms as genetic modifiers in the Li-Fraumeni syndrome: impact on age at first diagnosis. 19542078 2009
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation disease BEFREE Tumor protein 53 mutations and inherited cancer: beyond Li-Fraumeni syndrome. 19952748 2010
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation disease BEFREE TP53 germline mutations are present in up to 80 % of families with classic Li-Fraumeni syndrome, and in 20-60 % of families with Li-Fraumeni like phenotypes. 27714481 2017
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation disease BEFREE TP53 mutation carrier (Li-Fraumeni Syndrome, LFS) cohort studies often suffer from lack of extensive pedigree exploration. 29324801 2018
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation disease BEFREE TP53 pathogenic germline variation is associated with the multi-cancer predisposition Li-Fraumeni syndrome (LFS). 31296311 2019
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation disease BEFREE TP53 is a tumor suppressor gene that is mutated in individuals with Li-Fraumeni syndrome. 9046882 1997
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation disease BEFREE A Li-Fraumeni syndrome family with retained heterozygosity for a germline TP53 mutation in two tumors. 12885464 2003
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation disease BEFREE A p53 germline point mutation was identified in one family with some findings of Li-Fraumeni syndrome, and a hemizygous germline deletion of the p16(INK4A)/p14(ARF) tumor suppressor region was demonstrated by FISH in a family with history of both astrocytoma and melanoma. 10797439 2000
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation disease BEFREE A child with Li-Fraumeni syndrome: Modes to inactivate the second allele of TP53 in three different malignancies. 25787918 2015
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 CausalMutation disease CLINVAR A common gain of function of p53 cancer mutants in inducing genetic instability. 19881536 2010
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 CausalMutation disease CLINVAR A common p53 mutation (R175H) activates c-Met receptor tyrosine kinase to enhance tumor cell invasion. 23792586 2013
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 CausalMutation disease CLINVAR A comprehensive study of TP53 mutations in chronic lymphocytic leukemia: Analysis of 1287 diagnostic and 1148 follow-up CLL samples. 21232794 2011
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation disease CLINVAR A comprehensive study of TP53 mutations in chronic lymphocytic leukemia: Analysis of 1287 diagnostic and 1148 follow-up CLL samples. 21232794 2011
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation disease CLINVAR A de novo p53 germline mutation affecting codon 151 in a six year old child with multiple tumors. 7881428 1994
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 CausalMutation disease CLINVAR A de novo p53 germline mutation affecting codon 151 in a six year old child with multiple tumors. 7881428 1994
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 CausalMutation disease CLINVAR A detailed study of loss of heterozygosity on chromosome 17 in tumours from Li-Fraumeni patients carrying a mutation to the TP53 gene. 9047394 1997
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation disease BEFREE A functionally inactive p53 Li-Fraumeni syndrome mutant. 8426739 1993
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation disease BEFREE A G:C to A:T mutation at codon 175 of p53 resulting in an arginine --> histidine substitution was detected, confirming the clinical diagnosis of LFS. 12200603 2002
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation disease BEFREE A germ line p53 mutation at codon 248, one of the most common p53 mutations in Li-Fraumeni syndrome, was observed in one case. 9816225 1996
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation disease BEFREE A germline 2.35 kb deletion of p53 genomic DNA creating a specific loss of the oligomerization domain inherited in a Li-Fraumeni syndrome family. 7936651 1994
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation disease BEFREE A germline TP53 mutation was observed in 1/9 cases, which suggests Li-Fraumeni syndrome. 17656254 2007