Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Marfan Syndrome FBN1 disease C0024796 GeneticVariation 1 orphanet , disgenet
Marfan Syndrome FBN1 disease C0024796 GermlineCausalMutation 1 orphanet , disgenet
Marfan Syndrome FBN1 disease C0024796 CausalMutation 1 orphanet , disgenet
Marfan Syndrome FBN1 disease C0024796 Biomarker 1 orphanet , disgenet
Marfan Syndrome FBN1 disease C0024796 AlteredExpression 1 orphanet , disgenet
Marfan Syndrome TGFBR2 disease C0024796 Biomarker 0.5 disgenet
Marfan Syndrome TGFBR2 disease C0024796 GeneticVariation 0.5 disgenet
Marfan Syndrome TGFBR2 disease C0024796 CausalMutation 0.5 disgenet
Marfan Syndrome LTBP2 disease C0024796 Biomarker 0.41 disgenet
Marfan Syndrome LTBP2 disease C0024796 CausalMutation 0.41 disgenet
Marfan Syndrome CBS disease C0024796 AlteredExpression 0.31 disgenet
Marfan Syndrome MMP9 disease C0024796 Biomarker 0.31 disgenet
Marfan Syndrome CBS disease C0024796 Biomarker 0.31 disgenet
Marfan Syndrome NOS2 disease C0024796 Biomarker 0.31 disgenet
Marfan Syndrome MMP2 disease C0024796 Biomarker 0.31 disgenet
Marfan Syndrome NOS2 disease C0024796 AlteredExpression 0.31 disgenet
Marfan Syndrome SOD2 disease C0024796 Biomarker 0.3 disgenet
Marfan Syndrome CAT disease C0024796 Biomarker 0.3 disgenet
Marfan Syndrome LAMC1 disease C0024796 Biomarker 0.3 disgenet
Marfan Syndrome SOD1 disease C0024796 Biomarker 0.3 disgenet
Marfan Syndrome FBN2 disease C0024796 GeneticVariation 0.2 disgenet
Marfan Syndrome TGFBR1 disease C0024796 Biomarker 0.2 disgenet
Marfan Syndrome MUS81 disease C0024796 Biomarker 0.2 disgenet
Marfan Syndrome TGFBR1 disease C0024796 GeneticVariation 0.2 disgenet
Marfan Syndrome TGFBR1 disease C0024796 CausalMutation 0.2 disgenet
Marfan Syndrome FBN2 disease C0024796 Biomarker 0.2 disgenet
Marfan Syndrome TGFB1 disease C0024796 AlteredExpression 0.1 disgenet
Marfan Syndrome TGFB1 disease C0024796 Biomarker 0.1 disgenet
Marfan Syndrome ELN disease C0024796 Biomarker 0.1 disgenet
Marfan Syndrome ELN disease C0024796 AlteredExpression 0.1 disgenet
Marfan Syndrome ELN disease C0024796 GeneticVariation 0.1 disgenet
Marfan Syndrome TGFB1 disease C0024796 GeneticVariation 0.1 disgenet
Marfan Syndrome KCNQ1 disease C0024796 GeneticVariation 0.1 disgenet
Marfan Syndrome EGF disease C0024796 Biomarker 0.1 disgenet
Marfan Syndrome EGF disease C0024796 GeneticVariation 0.1 disgenet
Marfan Syndrome AGTR1 disease C0024796 Biomarker 0.08 disgenet
Marfan Syndrome AGTR1 disease C0024796 AlteredExpression 0.08 disgenet
Marfan Syndrome COL1A2 disease C0024796 GeneticVariation 0.06 disgenet
Marfan Syndrome COL1A2 disease C0024796 Biomarker 0.06 disgenet
Marfan Syndrome AGT disease C0024796 Biomarker 0.05 disgenet
Marfan Syndrome AGT disease C0024796 AlteredExpression 0.05 disgenet
Marfan Syndrome AGT disease C0024796 GeneticVariation 0.05 disgenet
Marfan Syndrome DCN disease C0024796 Biomarker 0.04 disgenet
Marfan Syndrome DCN disease C0024796 AlteredExpression 0.04 disgenet
Marfan Syndrome TGFB2 disease C0024796 GeneticVariation 0.04 disgenet
Marfan Syndrome DCN disease C0024796 GeneticVariation 0.04 disgenet
Marfan Syndrome COL3A1 disease C0024796 GeneticVariation 0.03 disgenet
Marfan Syndrome SMAD2 disease C0024796 PosttranslationalModification 0.03 disgenet
Marfan Syndrome SMAD2 disease C0024796 GeneticVariation 0.03 disgenet
Marfan Syndrome SMAD2 disease C0024796 Biomarker 0.03 disgenet
Marfan Syndrome MAPK1 disease C0024796 Biomarker 0.02 disgenet
Marfan Syndrome CD109 disease C0024796 AlteredExpression 0.02 disgenet
Marfan Syndrome PKD1 disease C0024796 GeneticVariation 0.02 disgenet
Marfan Syndrome MMRN1 disease C0024796 Biomarker 0.02 disgenet
Marfan Syndrome MMRN1 disease C0024796 AlteredExpression 0.02 disgenet
Marfan Syndrome PPARG disease C0024796 AlteredExpression 0.02 disgenet
Marfan Syndrome COX2 disease C0024796 Biomarker 0.02 disgenet
Marfan Syndrome CD109 disease C0024796 Biomarker 0.02 disgenet
Marfan Syndrome LRP1 disease C0024796 Biomarker 0.02 disgenet
Marfan Syndrome MAPK3 disease C0024796 Biomarker 0.02 disgenet
Marfan Syndrome TNF disease C0024796 AlteredExpression 0.02 disgenet
Marfan Syndrome PPARG disease C0024796 Biomarker 0.02 disgenet
Marfan Syndrome ADAMTS1 disease C0024796 Biomarker 0.02 disgenet
Marfan Syndrome ADAMTS1 disease C0024796 AlteredExpression 0.02 disgenet
Marfan Syndrome COX2 disease C0024796 AlteredExpression 0.02 disgenet
Marfan Syndrome MMP14 disease C0024796 Biomarker 0.02 disgenet
Marfan Syndrome LRP1 disease C0024796 GeneticVariation 0.02 disgenet
Marfan Syndrome SMAD3 disease C0024796 GeneticVariation 0.02 disgenet
Marfan Syndrome ADAMTSL4 disease C0024796 GeneticVariation 0.02 disgenet
Marfan Syndrome TAGLN disease C0024796 AlteredExpression 0.02 disgenet
Marfan Syndrome TAGLN disease C0024796 Biomarker 0.02 disgenet
Marfan Syndrome ACTA2 disease C0024796 GeneticVariation 0.02 disgenet
Marfan Syndrome SCD disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome CLDN6 disease C0024796 AlteredExpression 0.01 disgenet
Marfan Syndrome FBN3 disease C0024796 GeneticVariation 0.01 disgenet
Marfan Syndrome MTHFR disease C0024796 GeneticVariation 0.01 disgenet
Marfan Syndrome AIMP2 disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome AHSA1 disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome RBM8A disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome MAP2K7 disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome CCN1 disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome KLF4 disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome CD44 disease C0024796 AlteredExpression 0.01 disgenet
Marfan Syndrome BGLAP disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome MFAP1 disease C0024796 GeneticVariation 0.01 disgenet
Marfan Syndrome ANGPT2 disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome CST12P disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome MFAP4 disease C0024796 AlteredExpression 0.01 disgenet
Marfan Syndrome NOS3 disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome TGFBR3 disease C0024796 AlteredExpression 0.01 disgenet
Marfan Syndrome P3H2 disease C0024796 GeneticVariation 0.01 disgenet
Marfan Syndrome TIMP2 disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome ROS1 disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome ACTB disease C0024796 AlteredExpression 0.01 disgenet
Marfan Syndrome ATM disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome TRPV1 disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome GPR162 disease C0024796 GeneticVariation 0.01 disgenet
Marfan Syndrome NOX4 disease C0024796 AlteredExpression 0.01 disgenet
Marfan Syndrome SLC3A1 disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome MMP12 disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome NF1 disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome RNF19A disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome CD34 disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome CNN1 disease C0024796 AlteredExpression 0.01 disgenet
Marfan Syndrome MMP3 disease C0024796 AlteredExpression 0.01 disgenet
Marfan Syndrome SLN disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome DCBLD2 disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome CRK disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome LOX disease C0024796 AlteredExpression 0.01 disgenet
Marfan Syndrome SPRTN disease C0024796 GeneticVariation 0.01 disgenet
Marfan Syndrome TGFBI disease C0024796 AlteredExpression 0.01 disgenet
Marfan Syndrome COL1A1 disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome MTCO2P12 disease C0024796 AlteredExpression 0.01 disgenet
Marfan Syndrome TP53 disease C0024796 AlteredExpression 0.01 disgenet
Marfan Syndrome SLC12A3 disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome AXIN2 disease C0024796 AlteredExpression 0.01 disgenet
Marfan Syndrome VCAN disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome PGR-AS1 disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome FBLN5 disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome THBS1 disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome SLC33A1 disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome MAPK14 disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome BRAF disease C0024796 GeneticVariation 0.01 disgenet
Marfan Syndrome COX8A disease C0024796 AlteredExpression 0.01 disgenet
Marfan Syndrome VPS51 disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome CBSL disease C0024796 AlteredExpression 0.01 disgenet
Marfan Syndrome SULT1E1 disease C0024796 GeneticVariation 0.01 disgenet
Marfan Syndrome SIGLEC7 disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome LAMC2 disease C0024796 AlteredExpression 0.01 disgenet
Marfan Syndrome SIRT1 disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome EPHB2 disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome VEGFA disease C0024796 AlteredExpression 0.01 disgenet
Marfan Syndrome CDH5 disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome GAL3ST1 disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome TIMP3 disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome GRAP2 disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome ACSM3 disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome CRP disease C0024796 AlteredExpression 0.01 disgenet
Marfan Syndrome PTGS2 disease C0024796 AlteredExpression 0.01 disgenet
Marfan Syndrome MMP13 disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome PART1 disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome FADS3 disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome COL2A1 disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome SPESP1 disease C0024796 GeneticVariation 0.01 disgenet
Marfan Syndrome TGFB3 disease C0024796 GeneticVariation 0.01 disgenet
Marfan Syndrome PTPRVP disease C0024796 GeneticVariation 0.01 disgenet
Marfan Syndrome SUMF2 disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome CSF2 disease C0024796 AlteredExpression 0.01 disgenet
Marfan Syndrome PLXNA2 disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome REN disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome DECR1 disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome MYBPC3 disease C0024796 GeneticVariation 0.01 disgenet
Marfan Syndrome VWF disease C0024796 AlteredExpression 0.01 disgenet
Marfan Syndrome ALOX5 disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome SLC35A1 disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome CASZ1 disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome POLDIP2 disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome NOTCH1 disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome HBHR disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome MET disease C0024796 AlteredExpression 0.01 disgenet
Marfan Syndrome NOTCH3 disease C0024796 Biomarker 0.01 disgenet
Marfan Syndrome FXN disease C0024796 GeneticVariation 0.01 disgenet
click here to return to the previous page