Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Peutz Jeghers Syndrome STK11 disease C0031269 GermlineCausalMutation 1 orphanet , disgenet
Peutz Jeghers Syndrome STK11 disease C0031269 AlteredExpression 1 orphanet , disgenet
Peutz Jeghers Syndrome STK11 disease C0031269 CausalMutation 1 orphanet , disgenet
Peutz Jeghers Syndrome STK11 disease C0031269 Biomarker 1 orphanet , disgenet
Peutz Jeghers Syndrome STK11 disease C0031269 PosttranslationalModification 1 orphanet , disgenet
Peutz Jeghers Syndrome STK11 disease C0031269 GeneticVariation 1 orphanet , disgenet
Peutz Jeghers Syndrome DEFA5 disease C0031269 Biomarker 0.3 disgenet
Peutz Jeghers Syndrome TP53 disease C0031269 Biomarker 0.08 disgenet
Peutz Jeghers Syndrome TP53 disease C0031269 AlteredExpression 0.08 disgenet
Peutz Jeghers Syndrome TP53 disease C0031269 GeneticVariation 0.08 disgenet
Peutz Jeghers Syndrome PTEN disease C0031269 Biomarker 0.07 disgenet
Peutz Jeghers Syndrome PTEN disease C0031269 GeneticVariation 0.07 disgenet
Peutz Jeghers Syndrome CTNNB1 disease C0031269 GeneticVariation 0.06 disgenet
Peutz Jeghers Syndrome CTNNB1 disease C0031269 Biomarker 0.06 disgenet
Peutz Jeghers Syndrome CTNNB1 disease C0031269 AlteredExpression 0.06 disgenet
Peutz Jeghers Syndrome CYP19A1 disease C0031269 GeneticVariation 0.05 disgenet
Peutz Jeghers Syndrome CYP19A1 disease C0031269 Biomarker 0.05 disgenet
Peutz Jeghers Syndrome PTGS2 disease C0031269 Biomarker 0.05 disgenet
Peutz Jeghers Syndrome CYP19A1 disease C0031269 AlteredExpression 0.05 disgenet
Peutz Jeghers Syndrome PTGS2 disease C0031269 AlteredExpression 0.05 disgenet
Peutz Jeghers Syndrome H3P10 disease C0031269 AlteredExpression 0.03 disgenet
Peutz Jeghers Syndrome MTCO2P12 disease C0031269 AlteredExpression 0.03 disgenet
Peutz Jeghers Syndrome H3P10 disease C0031269 GeneticVariation 0.03 disgenet
Peutz Jeghers Syndrome MTCO2P12 disease C0031269 Biomarker 0.03 disgenet
Peutz Jeghers Syndrome CDKN2A disease C0031269 GeneticVariation 0.03 disgenet
Peutz Jeghers Syndrome CDKN2A disease C0031269 AlteredExpression 0.03 disgenet
Peutz Jeghers Syndrome COX2 disease C0031269 Biomarker 0.03 disgenet
Peutz Jeghers Syndrome COX2 disease C0031269 AlteredExpression 0.03 disgenet
Peutz Jeghers Syndrome SMAD4 disease C0031269 GeneticVariation 0.02 disgenet
Peutz Jeghers Syndrome CYP2B6 disease C0031269 AlteredExpression 0.02 disgenet
Peutz Jeghers Syndrome MTOR disease C0031269 AlteredExpression 0.02 disgenet
Peutz Jeghers Syndrome PRKAR1A disease C0031269 GeneticVariation 0.02 disgenet
Peutz Jeghers Syndrome PRKAR1A disease C0031269 Biomarker 0.02 disgenet
Peutz Jeghers Syndrome TSC2 disease C0031269 Biomarker 0.02 disgenet
Peutz Jeghers Syndrome BRCA2 disease C0031269 GeneticVariation 0.02 disgenet
Peutz Jeghers Syndrome MYH11 disease C0031269 GeneticVariation 0.02 disgenet
Peutz Jeghers Syndrome SMARCA4 disease C0031269 Biomarker 0.02 disgenet
Peutz Jeghers Syndrome LIAS disease C0031269 Biomarker 0.02 disgenet
Peutz Jeghers Syndrome APC disease C0031269 GeneticVariation 0.02 disgenet
Peutz Jeghers Syndrome MEN1 disease C0031269 GeneticVariation 0.02 disgenet
Peutz Jeghers Syndrome KRAS disease C0031269 GeneticVariation 0.02 disgenet
Peutz Jeghers Syndrome APC disease C0031269 Biomarker 0.02 disgenet
Peutz Jeghers Syndrome CENPJ disease C0031269 Biomarker 0.02 disgenet
Peutz Jeghers Syndrome STK11IP disease C0031269 Biomarker 0.02 disgenet
Peutz Jeghers Syndrome MTOR disease C0031269 Biomarker 0.02 disgenet
Peutz Jeghers Syndrome PPFIA1 disease C0031269 Biomarker 0.02 disgenet
Peutz Jeghers Syndrome GNAS disease C0031269 Biomarker 0.01 disgenet
Peutz Jeghers Syndrome MSH6 disease C0031269 AlteredExpression 0.01 disgenet
Peutz Jeghers Syndrome TESC disease C0031269 Biomarker 0.01 disgenet
Peutz Jeghers Syndrome STRADA disease C0031269 GeneticVariation 0.01 disgenet
Peutz Jeghers Syndrome CDC37 disease C0031269 Biomarker 0.01 disgenet
Peutz Jeghers Syndrome PWAR1 disease C0031269 GeneticVariation 0.01 disgenet
Peutz Jeghers Syndrome APRT disease C0031269 AlteredExpression 0.01 disgenet
Peutz Jeghers Syndrome PTPRH disease C0031269 GeneticVariation 0.01 disgenet
Peutz Jeghers Syndrome SLC25A21 disease C0031269 AlteredExpression 0.01 disgenet
Peutz Jeghers Syndrome INHA disease C0031269 Biomarker 0.01 disgenet
Peutz Jeghers Syndrome STAT3 disease C0031269 Biomarker 0.01 disgenet
Peutz Jeghers Syndrome FAP disease C0031269 Biomarker 0.01 disgenet
Peutz Jeghers Syndrome SLC12A3 disease C0031269 Biomarker 0.01 disgenet
Peutz Jeghers Syndrome REN disease C0031269 Biomarker 0.01 disgenet
Peutz Jeghers Syndrome CAB39 disease C0031269 Biomarker 0.01 disgenet
Peutz Jeghers Syndrome NR1I2 disease C0031269 GeneticVariation 0.01 disgenet
Peutz Jeghers Syndrome PRKAA1 disease C0031269 Biomarker 0.01 disgenet
Peutz Jeghers Syndrome ARID3A disease C0031269 GeneticVariation 0.01 disgenet
Peutz Jeghers Syndrome CHEK2 disease C0031269 GeneticVariation 0.01 disgenet
Peutz Jeghers Syndrome MAP2K4 disease C0031269 GeneticVariation 0.01 disgenet
Peutz Jeghers Syndrome SMAD2 disease C0031269 GeneticVariation 0.01 disgenet
Peutz Jeghers Syndrome BUB1 disease C0031269 GeneticVariation 0.01 disgenet
Peutz Jeghers Syndrome CDX2 disease C0031269 Biomarker 0.01 disgenet
Peutz Jeghers Syndrome ODC1 disease C0031269 AlteredExpression 0.01 disgenet
Peutz Jeghers Syndrome IFITM1 disease C0031269 AlteredExpression 0.01 disgenet
Peutz Jeghers Syndrome PRKAA2 disease C0031269 Biomarker 0.01 disgenet
Peutz Jeghers Syndrome BRCA1 disease C0031269 GeneticVariation 0.01 disgenet
Peutz Jeghers Syndrome ESR1 disease C0031269 GeneticVariation 0.01 disgenet
Peutz Jeghers Syndrome PRKAB1 disease C0031269 Biomarker 0.01 disgenet
Peutz Jeghers Syndrome F2R disease C0031269 GeneticVariation 0.01 disgenet
Peutz Jeghers Syndrome ENG disease C0031269 GeneticVariation 0.01 disgenet
Peutz Jeghers Syndrome VHL disease C0031269 Biomarker 0.01 disgenet
Peutz Jeghers Syndrome FNDC3A disease C0031269 Biomarker 0.01 disgenet
Peutz Jeghers Syndrome MUTYH disease C0031269 Biomarker 0.01 disgenet
Peutz Jeghers Syndrome EGFR disease C0031269 AlteredExpression 0.01 disgenet
Peutz Jeghers Syndrome IL11 disease C0031269 Biomarker 0.01 disgenet
Peutz Jeghers Syndrome NEK6 disease C0031269 GeneticVariation 0.01 disgenet
Peutz Jeghers Syndrome WNT5A disease C0031269 Biomarker 0.01 disgenet
Peutz Jeghers Syndrome TSC1 disease C0031269 Biomarker 0.01 disgenet
Peutz Jeghers Syndrome HSP90AA1 disease C0031269 AlteredExpression 0.01 disgenet
Peutz Jeghers Syndrome MARK4 disease C0031269 GeneticVariation 0.01 disgenet
Peutz Jeghers Syndrome SLC52A2 disease C0031269 GeneticVariation 0.01 disgenet
Peutz Jeghers Syndrome NKX2-5 disease C0031269 PosttranslationalModification 0.01 disgenet
Peutz Jeghers Syndrome MARK1 disease C0031269 GeneticVariation 0.01 disgenet
Peutz Jeghers Syndrome MFAP1 disease C0031269 AlteredExpression 0.01 disgenet
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