Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Li Fraumeni Syndrome TP53 disease C0085390 GeneticVariation 1 orphanet , disgenet
Li Fraumeni Syndrome TP53 disease C0085390 PosttranslationalModification 1 orphanet , disgenet
Li Fraumeni Syndrome TP53 disease C0085390 CausalMutation 1 orphanet , disgenet
Li Fraumeni Syndrome TP53 disease C0085390 Biomarker 1 orphanet , disgenet
Li Fraumeni Syndrome TP53 disease C0085390 AlteredExpression 1 orphanet , disgenet
Li Fraumeni Syndrome CHEK2 disease C0085390 GeneticVariation 0.7 orphanet , disgenet
Li Fraumeni Syndrome CHEK2 disease C0085390 Biomarker 0.7 orphanet , disgenet
Li Fraumeni Syndrome CHEK2 disease C0085390 CausalMutation 0.7 orphanet , disgenet
Li Fraumeni Syndrome MDM2 disease C0085390 GermlineModifyingMutation 0.4 orphanet , disgenet
Li Fraumeni Syndrome MDM2 disease C0085390 GeneticVariation 0.4 orphanet , disgenet
Li Fraumeni Syndrome MDM2 disease C0085390 Biomarker 0.4 orphanet , disgenet
Li Fraumeni Syndrome CDKN2A disease C0085390 GeneticVariation 0.35 orphanet , disgenet
Li Fraumeni Syndrome CDKN2A disease C0085390 Biomarker 0.35 orphanet , disgenet
Li Fraumeni Syndrome CDKN2A disease C0085390 AlteredExpression 0.35 orphanet , disgenet
Li Fraumeni Syndrome BRCA2 disease C0085390 Biomarker 0.1 disgenet
Li Fraumeni Syndrome BRCA2 disease C0085390 GeneticVariation 0.1 disgenet
Li Fraumeni Syndrome BRCA1 disease C0085390 Biomarker 0.09 disgenet
Li Fraumeni Syndrome BRCA1 disease C0085390 GeneticVariation 0.09 disgenet
Li Fraumeni Syndrome EGFR disease C0085390 GeneticVariation 0.04 disgenet
Li Fraumeni Syndrome ERBB2 disease C0085390 Biomarker 0.04 disgenet
Li Fraumeni Syndrome ERBB2 disease C0085390 GeneticVariation 0.04 disgenet
Li Fraumeni Syndrome PTEN disease C0085390 GeneticVariation 0.03 disgenet
Li Fraumeni Syndrome PTEN disease C0085390 Biomarker 0.03 disgenet
Li Fraumeni Syndrome RUNX1 disease C0085390 Biomarker 0.02 disgenet
Li Fraumeni Syndrome RAF1 disease C0085390 GeneticVariation 0.02 disgenet
Li Fraumeni Syndrome RUNX1 disease C0085390 GeneticVariation 0.02 disgenet
Li Fraumeni Syndrome MIR605 disease C0085390 Biomarker 0.02 disgenet
Li Fraumeni Syndrome DDX41 disease C0085390 GeneticVariation 0.02 disgenet
Li Fraumeni Syndrome DDX41 disease C0085390 Biomarker 0.02 disgenet
Li Fraumeni Syndrome IDH1 disease C0085390 GeneticVariation 0.02 disgenet
Li Fraumeni Syndrome PKM disease C0085390 AlteredExpression 0.02 disgenet
Li Fraumeni Syndrome RNASE3 disease C0085390 GeneticVariation 0.02 disgenet
Li Fraumeni Syndrome MIR605 disease C0085390 GeneticVariation 0.02 disgenet
Li Fraumeni Syndrome PKM disease C0085390 Biomarker 0.02 disgenet
Li Fraumeni Syndrome RPS19 disease C0085390 GeneticVariation 0.02 disgenet
Li Fraumeni Syndrome H2AX disease C0085390 Biomarker 0.02 disgenet
Li Fraumeni Syndrome CYP19A1 disease C0085390 AlteredExpression 0.02 disgenet
Li Fraumeni Syndrome PCNA disease C0085390 Biomarker 0.01 disgenet
Li Fraumeni Syndrome RALBP1 disease C0085390 GeneticVariation 0.01 disgenet
Li Fraumeni Syndrome CDK2 disease C0085390 GeneticVariation 0.01 disgenet
Li Fraumeni Syndrome B2M disease C0085390 GeneticVariation 0.01 disgenet
Li Fraumeni Syndrome RBM17 disease C0085390 Biomarker 0.01 disgenet
Li Fraumeni Syndrome IRF7 disease C0085390 AlteredExpression 0.01 disgenet
Li Fraumeni Syndrome MLH1 disease C0085390 Biomarker 0.01 disgenet
Li Fraumeni Syndrome IGFBP7 disease C0085390 AlteredExpression 0.01 disgenet
Li Fraumeni Syndrome OCLN disease C0085390 Biomarker 0.01 disgenet
Li Fraumeni Syndrome CREG1 disease C0085390 Biomarker 0.01 disgenet
Li Fraumeni Syndrome TERC disease C0085390 AlteredExpression 0.01 disgenet
Li Fraumeni Syndrome AR disease C0085390 GeneticVariation 0.01 disgenet
Li Fraumeni Syndrome ZDHHC9 disease C0085390 Biomarker 0.01 disgenet
Li Fraumeni Syndrome DNA2 disease C0085390 GeneticVariation 0.01 disgenet
Li Fraumeni Syndrome SRP72 disease C0085390 GeneticVariation 0.01 disgenet
Li Fraumeni Syndrome DLL4 disease C0085390 AlteredExpression 0.01 disgenet
Li Fraumeni Syndrome RB1 disease C0085390 GeneticVariation 0.01 disgenet
Li Fraumeni Syndrome CPSF6 disease C0085390 Biomarker 0.01 disgenet
Li Fraumeni Syndrome DOCK11 disease C0085390 Biomarker 0.01 disgenet
Li Fraumeni Syndrome DCN disease C0085390 Biomarker 0.01 disgenet
Li Fraumeni Syndrome CHEK1 disease C0085390 GeneticVariation 0.01 disgenet
Li Fraumeni Syndrome CAV1 disease C0085390 AlteredExpression 0.01 disgenet
Li Fraumeni Syndrome SHH disease C0085390 GeneticVariation 0.01 disgenet
Li Fraumeni Syndrome WT1 disease C0085390 GeneticVariation 0.01 disgenet
Li Fraumeni Syndrome GATA2 disease C0085390 GeneticVariation 0.01 disgenet
Li Fraumeni Syndrome CEBPA disease C0085390 GeneticVariation 0.01 disgenet
Li Fraumeni Syndrome ATF2 disease C0085390 GeneticVariation 0.01 disgenet
Li Fraumeni Syndrome ATM disease C0085390 Biomarker 0.01 disgenet
Li Fraumeni Syndrome BCL2 disease C0085390 Biomarker 0.01 disgenet
Li Fraumeni Syndrome CDH1 disease C0085390 GeneticVariation 0.01 disgenet
Li Fraumeni Syndrome AHSA1 disease C0085390 Biomarker 0.01 disgenet
Li Fraumeni Syndrome PLXNA3 disease C0085390 Biomarker 0.01 disgenet
Li Fraumeni Syndrome ESR1 disease C0085390 Biomarker 0.01 disgenet
Li Fraumeni Syndrome ANKRD26 disease C0085390 GeneticVariation 0.01 disgenet
Li Fraumeni Syndrome ETV6 disease C0085390 GeneticVariation 0.01 disgenet
Li Fraumeni Syndrome DCK disease C0085390 GeneticVariation 0.01 disgenet
Li Fraumeni Syndrome CDKN1A disease C0085390 Biomarker 0.01 disgenet
Li Fraumeni Syndrome NF1 disease C0085390 GeneticVariation 0.01 disgenet
Li Fraumeni Syndrome SFRP2 disease C0085390 AlteredExpression 0.01 disgenet
Li Fraumeni Syndrome HSP90AA1 disease C0085390 AlteredExpression 0.01 disgenet
Li Fraumeni Syndrome BAP1 disease C0085390 Biomarker 0.01 disgenet
Li Fraumeni Syndrome AHSA2P disease C0085390 Biomarker 0.01 disgenet
Li Fraumeni Syndrome IFNA13 disease C0085390 AlteredExpression 0.01 disgenet
Li Fraumeni Syndrome MUTYH disease C0085390 GeneticVariation 0.01 disgenet
Li Fraumeni Syndrome SMARCB1 disease C0085390 Biomarker 0.01 disgenet
Li Fraumeni Syndrome TWSG1 disease C0085390 Biomarker 0.01 disgenet
Li Fraumeni Syndrome CD44 disease C0085390 GeneticVariation 0.01 disgenet
Li Fraumeni Syndrome TOP2B disease C0085390 GeneticVariation 0.01 disgenet
Li Fraumeni Syndrome RECQL4 disease C0085390 GeneticVariation 0.01 disgenet
Li Fraumeni Syndrome BCL10 disease C0085390 Biomarker 0.01 disgenet
Li Fraumeni Syndrome HIF1A disease C0085390 AlteredExpression 0.01 disgenet
Li Fraumeni Syndrome NF2 disease C0085390 GeneticVariation 0.01 disgenet
Li Fraumeni Syndrome CMM disease C0085390 GeneticVariation 0.01 disgenet
Li Fraumeni Syndrome CDKN2B disease C0085390 Biomarker 0.01 disgenet
Li Fraumeni Syndrome H3P10 disease C0085390 AlteredExpression 0.01 disgenet
Li Fraumeni Syndrome IFNA1 disease C0085390 AlteredExpression 0.01 disgenet
Li Fraumeni Syndrome SKP2 disease C0085390 Biomarker 0.01 disgenet
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