Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Juvenile polyposis syndrome BMPR1A disease C0345893 GeneticVariation 1 orphanet , disgenet
Juvenile polyposis syndrome BMPR1A disease C0345893 GermlineCausalMutation 1 orphanet , disgenet
Juvenile polyposis syndrome BMPR1A disease C0345893 ChromosomalRearrangement 1 orphanet , disgenet
Juvenile polyposis syndrome BMPR1A disease C0345893 Biomarker 1 orphanet , disgenet
Juvenile polyposis syndrome BMPR1A disease C0345893 CausalMutation 1 orphanet , disgenet
Juvenile polyposis syndrome SMAD4 disease C0345893 CausalMutation 1 disgenet
Juvenile polyposis syndrome BMPR1A disease C0345893 AlteredExpression 1 orphanet , disgenet
Juvenile polyposis syndrome SMAD4 disease C0345893 AlteredExpression 1 disgenet
Juvenile polyposis syndrome SMAD4 disease C0345893 GermlineCausalMutation 1 disgenet
Juvenile polyposis syndrome SMAD4 disease C0345893 GeneticVariation 1 disgenet
Juvenile polyposis syndrome SMAD4 disease C0345893 Biomarker 1 disgenet
Juvenile polyposis syndrome ENG disease C0345893 Biomarker 0.63 disgenet
Juvenile polyposis syndrome ENG disease C0345893 GeneticVariation 0.63 disgenet
Juvenile polyposis syndrome PTEN disease C0345893 ChromosomalRearrangement 0.4 orphanet , disgenet
Juvenile polyposis syndrome PTEN disease C0345893 Biomarker 0.4 orphanet , disgenet
Juvenile polyposis syndrome PTEN disease C0345893 GeneticVariation 0.4 orphanet , disgenet
Juvenile polyposis syndrome CRP disease C0345893 GeneticVariation 0.08 disgenet
Juvenile polyposis syndrome CRP disease C0345893 AlteredExpression 0.08 disgenet
Juvenile polyposis syndrome CRP disease C0345893 Biomarker 0.08 disgenet
Juvenile polyposis syndrome STK11 disease C0345893 GeneticVariation 0.03 disgenet
Juvenile polyposis syndrome IL1B disease C0345893 GeneticVariation 0.03 disgenet
Juvenile polyposis syndrome IL1B disease C0345893 AlteredExpression 0.03 disgenet
Juvenile polyposis syndrome IL1B disease C0345893 Biomarker 0.03 disgenet
Juvenile polyposis syndrome PTGS2 disease C0345893 AlteredExpression 0.03 disgenet
Juvenile polyposis syndrome ACVRL1 disease C0345893 GeneticVariation 0.03 disgenet
Juvenile polyposis syndrome STK11 disease C0345893 Biomarker 0.03 disgenet
Juvenile polyposis syndrome ACVRL1 disease C0345893 Biomarker 0.03 disgenet
Juvenile polyposis syndrome SLPI disease C0345893 Biomarker 0.02 disgenet
Juvenile polyposis syndrome MUTYH disease C0345893 Biomarker 0.02 disgenet
Juvenile polyposis syndrome TLR2 disease C0345893 Biomarker 0.02 disgenet
Juvenile polyposis syndrome TLR2 disease C0345893 GeneticVariation 0.02 disgenet
Juvenile polyposis syndrome MUTYH disease C0345893 GeneticVariation 0.02 disgenet
Juvenile polyposis syndrome SLPI disease C0345893 GeneticVariation 0.02 disgenet
Juvenile polyposis syndrome IL6 disease C0345893 Biomarker 0.02 disgenet
Juvenile polyposis syndrome MBL2 disease C0345893 Biomarker 0.02 disgenet
Juvenile polyposis syndrome MBL2 disease C0345893 GeneticVariation 0.02 disgenet
Juvenile polyposis syndrome PIK3CG disease C0345893 GeneticVariation 0.01 disgenet
Juvenile polyposis syndrome HHT3 disease C0345893 GeneticVariation 0.01 disgenet
Juvenile polyposis syndrome MUC5AC disease C0345893 AlteredExpression 0.01 disgenet
Juvenile polyposis syndrome PMS2 disease C0345893 GeneticVariation 0.01 disgenet
Juvenile polyposis syndrome BMPR2 disease C0345893 GeneticVariation 0.01 disgenet
Juvenile polyposis syndrome SMUG1 disease C0345893 Biomarker 0.01 disgenet
Juvenile polyposis syndrome PIK3CB disease C0345893 GeneticVariation 0.01 disgenet
Juvenile polyposis syndrome MBL3P disease C0345893 GeneticVariation 0.01 disgenet
Juvenile polyposis syndrome SAG disease C0345893 GeneticVariation 0.01 disgenet
Juvenile polyposis syndrome CDC73 disease C0345893 GeneticVariation 0.01 disgenet
Juvenile polyposis syndrome BCS1L disease C0345893 GeneticVariation 0.01 disgenet
Juvenile polyposis syndrome PIK3CD disease C0345893 GeneticVariation 0.01 disgenet
Juvenile polyposis syndrome TLR4 disease C0345893 GeneticVariation 0.01 disgenet
Juvenile polyposis syndrome TP53 disease C0345893 AlteredExpression 0.01 disgenet
Juvenile polyposis syndrome APC disease C0345893 GeneticVariation 0.01 disgenet
Juvenile polyposis syndrome SMAD5 disease C0345893 GeneticVariation 0.01 disgenet
Juvenile polyposis syndrome BMP2 disease C0345893 AlteredExpression 0.01 disgenet
Juvenile polyposis syndrome MYH11 disease C0345893 GeneticVariation 0.01 disgenet
Juvenile polyposis syndrome ADA disease C0345893 Biomarker 0.01 disgenet
Juvenile polyposis syndrome HTC2 disease C0345893 Biomarker 0.01 disgenet
Juvenile polyposis syndrome PTCH1 disease C0345893 GeneticVariation 0.01 disgenet
Juvenile polyposis syndrome CRELD2 disease C0345893 Biomarker 0.01 disgenet
Juvenile polyposis syndrome CASP1 disease C0345893 AlteredExpression 0.01 disgenet
Juvenile polyposis syndrome TNF disease C0345893 GeneticVariation 0.01 disgenet
Juvenile polyposis syndrome ELAVL1 disease C0345893 AlteredExpression 0.01 disgenet
Juvenile polyposis syndrome DCC disease C0345893 Biomarker 0.01 disgenet
Juvenile polyposis syndrome PIK3CA disease C0345893 GeneticVariation 0.01 disgenet
Juvenile polyposis syndrome CTNNB1 disease C0345893 Biomarker 0.01 disgenet
Juvenile polyposis syndrome TGFA disease C0345893 AlteredExpression 0.01 disgenet
Juvenile polyposis syndrome PDX1 disease C0345893 AlteredExpression 0.01 disgenet
Juvenile polyposis syndrome CDX2 disease C0345893 Biomarker 0.01 disgenet
Juvenile polyposis syndrome CDKN1B disease C0345893 Biomarker 0.01 disgenet
Juvenile polyposis syndrome GREM1 disease C0345893 AlteredExpression 0.01 disgenet
Juvenile polyposis syndrome HPT disease C0345893 Biomarker 0.01 disgenet
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