Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Bernard Soulier Syndrome GP1BB disease C0005129 GeneticVariation 1 orphanet , disgenet
Bernard Soulier Syndrome GP1BB disease C0005129 GermlineCausalMutation 1 orphanet , disgenet
Bernard Soulier Syndrome GP1BA disease C0005129 CausalMutation 1 orphanet , disgenet
Bernard Soulier Syndrome GP1BA disease C0005129 AlteredExpression 1 orphanet , disgenet
Bernard Soulier Syndrome GP1BB disease C0005129 CausalMutation 1 orphanet , disgenet
Bernard Soulier Syndrome GP1BA disease C0005129 Biomarker 1 orphanet , disgenet
Bernard Soulier Syndrome GP1BA disease C0005129 GermlineCausalMutation 1 orphanet , disgenet
Bernard Soulier Syndrome GP1BA disease C0005129 GeneticVariation 1 orphanet , disgenet
Bernard Soulier Syndrome GP1BB disease C0005129 Biomarker 1 orphanet , disgenet
Bernard Soulier Syndrome GP9 disease C0005129 GeneticVariation 0.8 orphanet , disgenet
Bernard Soulier Syndrome GP9 disease C0005129 Biomarker 0.8 orphanet , disgenet
Bernard Soulier Syndrome GP9 disease C0005129 AlteredExpression 0.8 orphanet , disgenet
Bernard Soulier Syndrome GP9 disease C0005129 CausalMutation 0.8 orphanet , disgenet
Bernard Soulier Syndrome GP9 disease C0005129 GermlineCausalMutation 0.8 orphanet , disgenet
Bernard Soulier Syndrome SEPTIN5 disease C0005129 GeneticVariation 0.11 disgenet
Bernard Soulier Syndrome SEPTIN5 disease C0005129 CausalMutation 0.11 disgenet
Bernard Soulier Syndrome SEPTIN5 disease C0005129 Biomarker 0.11 disgenet
Bernard Soulier Syndrome VWF disease C0005129 GeneticVariation 0.1 disgenet
Bernard Soulier Syndrome PRB2 disease C0005129 GeneticVariation 0.1 disgenet
Bernard Soulier Syndrome CHRNE disease C0005129 CausalMutation 0.1 disgenet
Bernard Soulier Syndrome PRB2 disease C0005129 AlteredExpression 0.1 disgenet
Bernard Soulier Syndrome PRB2 disease C0005129 Biomarker 0.1 disgenet
Bernard Soulier Syndrome VWF disease C0005129 Biomarker 0.1 disgenet
Bernard Soulier Syndrome GP5 disease C0005129 GeneticVariation 0.07 disgenet
Bernard Soulier Syndrome GP5 disease C0005129 Biomarker 0.07 disgenet
Bernard Soulier Syndrome SEPT5-GP1BB disease C0005129 GeneticVariation 0.05 disgenet
Bernard Soulier Syndrome ITGA2B disease C0005129 GeneticVariation 0.04 disgenet
Bernard Soulier Syndrome ITGA2B disease C0005129 AlteredExpression 0.04 disgenet
Bernard Soulier Syndrome ITGA2B disease C0005129 Biomarker 0.04 disgenet
Bernard Soulier Syndrome MYH9 disease C0005129 GeneticVariation 0.03 disgenet
Bernard Soulier Syndrome CARD14 disease C0005129 Biomarker 0.03 disgenet
Bernard Soulier Syndrome C4BPA disease C0005129 Biomarker 0.03 disgenet
Bernard Soulier Syndrome CARD14 disease C0005129 GeneticVariation 0.03 disgenet
Bernard Soulier Syndrome PRNP disease C0005129 Biomarker 0.03 disgenet
Bernard Soulier Syndrome C4BPA disease C0005129 GeneticVariation 0.03 disgenet
Bernard Soulier Syndrome MYH9 disease C0005129 Biomarker 0.03 disgenet
Bernard Soulier Syndrome PRNP disease C0005129 GeneticVariation 0.03 disgenet
Bernard Soulier Syndrome FGFR2 disease C0005129 GeneticVariation 0.03 disgenet
Bernard Soulier Syndrome PRDX2 disease C0005129 Biomarker 0.03 disgenet
Bernard Soulier Syndrome PRDX2 disease C0005129 GeneticVariation 0.03 disgenet
Bernard Soulier Syndrome ABCB6 disease C0005129 Biomarker 0.03 disgenet
Bernard Soulier Syndrome ABCB6 disease C0005129 GeneticVariation 0.03 disgenet
Bernard Soulier Syndrome NLRP3 disease C0005129 AlteredExpression 0.02 disgenet
Bernard Soulier Syndrome FN1 disease C0005129 Biomarker 0.01 disgenet
Bernard Soulier Syndrome MAPK14 disease C0005129 Biomarker 0.01 disgenet
Bernard Soulier Syndrome RNF19A disease C0005129 Biomarker 0.01 disgenet
Bernard Soulier Syndrome RYR1 disease C0005129 Biomarker 0.01 disgenet
Bernard Soulier Syndrome F2 disease C0005129 Biomarker 0.01 disgenet
Bernard Soulier Syndrome MAPK1 disease C0005129 Biomarker 0.01 disgenet
Bernard Soulier Syndrome TPO disease C0005129 Biomarker 0.01 disgenet
Bernard Soulier Syndrome ITGB1 disease C0005129 Biomarker 0.01 disgenet
Bernard Soulier Syndrome AIMP2 disease C0005129 Biomarker 0.01 disgenet
Bernard Soulier Syndrome PF4 disease C0005129 Biomarker 0.01 disgenet
Bernard Soulier Syndrome IL4R disease C0005129 Biomarker 0.01 disgenet
Bernard Soulier Syndrome CASP1 disease C0005129 AlteredExpression 0.01 disgenet
Bernard Soulier Syndrome ITGB3 disease C0005129 GeneticVariation 0.01 disgenet
Bernard Soulier Syndrome ADIPOQ disease C0005129 GeneticVariation 0.01 disgenet
Bernard Soulier Syndrome POLDIP2 disease C0005129 Biomarker 0.01 disgenet
Bernard Soulier Syndrome XYLT1 disease C0005129 GeneticVariation 0.01 disgenet
Bernard Soulier Syndrome TRAP disease C0005129 Biomarker 0.01 disgenet
Bernard Soulier Syndrome QRSL1 disease C0005129 GeneticVariation 0.01 disgenet
Bernard Soulier Syndrome LGALS8 disease C0005129 Biomarker 0.01 disgenet
Bernard Soulier Syndrome ITGA2 disease C0005129 Biomarker 0.01 disgenet
Bernard Soulier Syndrome IL1B disease C0005129 AlteredExpression 0.01 disgenet
Bernard Soulier Syndrome GRAP2 disease C0005129 Biomarker 0.01 disgenet
Bernard Soulier Syndrome F11 disease C0005129 Biomarker 0.01 disgenet
Bernard Soulier Syndrome THPO disease C0005129 Biomarker 0.01 disgenet
Bernard Soulier Syndrome C3 disease C0005129 AlteredExpression 0.01 disgenet
Bernard Soulier Syndrome CRK disease C0005129 Biomarker 0.01 disgenet
Bernard Soulier Syndrome FBLN1 disease C0005129 GeneticVariation 0.01 disgenet
Bernard Soulier Syndrome AHSA1 disease C0005129 Biomarker 0.01 disgenet
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