Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Aortic Valve, Bicuspid NOTCH1 disease C0149630 AlteredExpression 0.7 orphanet , disgenet
Aortic Valve, Bicuspid NOTCH1 disease C0149630 Biomarker 0.7 orphanet , disgenet
Aortic Valve, Bicuspid NOTCH1 disease C0149630 GermlineCausalMutation 0.7 orphanet , disgenet
Aortic Valve, Bicuspid NOTCH1 disease C0149630 GeneticVariation 0.7 orphanet , disgenet
Aortic Valve, Bicuspid SMAD6 disease C0149630 GeneticVariation 0.65 orphanet , disgenet
Aortic Valve, Bicuspid SMAD6 disease C0149630 GermlineCausalMutation 0.65 orphanet , disgenet
Aortic Valve, Bicuspid SMAD6 disease C0149630 Biomarker 0.65 orphanet , disgenet
Aortic Valve, Bicuspid GATA5 disease C0149630 GermlineCausalMutation 0.48 orphanet , disgenet
Aortic Valve, Bicuspid GATA5 disease C0149630 Biomarker 0.48 orphanet , disgenet
Aortic Valve, Bicuspid GATA5 disease C0149630 GeneticVariation 0.48 orphanet , disgenet
Aortic Valve, Bicuspid NKX2-5 disease C0149630 GermlineCausalMutation 0.42 orphanet , disgenet
Aortic Valve, Bicuspid NKX2-5 disease C0149630 Biomarker 0.42 orphanet , disgenet
Aortic Valve, Bicuspid NKX2-5 disease C0149630 GeneticVariation 0.42 orphanet , disgenet
Aortic Valve, Bicuspid ROBO4 disease C0149630 Biomarker 0.41 disgenet
Aortic Valve, Bicuspid ENPP1 disease C0149630 AlteredExpression 0.21 disgenet
Aortic Valve, Bicuspid ENPP1 disease C0149630 Biomarker 0.21 disgenet
Aortic Valve, Bicuspid MMP2 disease C0149630 AlteredExpression 0.15 disgenet
Aortic Valve, Bicuspid FBN1 disease C0149630 AlteredExpression 0.15 disgenet
Aortic Valve, Bicuspid FBN1 disease C0149630 Biomarker 0.15 disgenet
Aortic Valve, Bicuspid FBN1 disease C0149630 GeneticVariation 0.15 disgenet
Aortic Valve, Bicuspid MMP2 disease C0149630 Biomarker 0.15 disgenet
Aortic Valve, Bicuspid ACTB disease C0149630 Biomarker 0.14 disgenet
Aortic Valve, Bicuspid GATA4 disease C0149630 Biomarker 0.14 disgenet
Aortic Valve, Bicuspid ACTB disease C0149630 AlteredExpression 0.14 disgenet
Aortic Valve, Bicuspid TGFBR2 disease C0149630 Biomarker 0.14 disgenet
Aortic Valve, Bicuspid GATA4 disease C0149630 AlteredExpression 0.14 disgenet
Aortic Valve, Bicuspid TGFBR2 disease C0149630 GeneticVariation 0.14 disgenet
Aortic Valve, Bicuspid GATA4 disease C0149630 GeneticVariation 0.14 disgenet
Aortic Valve, Bicuspid GATA6 disease C0149630 Biomarker 0.12 disgenet
Aortic Valve, Bicuspid TGFBR1 disease C0149630 GeneticVariation 0.12 disgenet
Aortic Valve, Bicuspid GATA6 disease C0149630 GeneticVariation 0.12 disgenet
Aortic Valve, Bicuspid ELN disease C0149630 Biomarker 0.12 disgenet
Aortic Valve, Bicuspid ACTA2 disease C0149630 GeneticVariation 0.12 disgenet
Aortic Valve, Bicuspid ACTA2 disease C0149630 Biomarker 0.12 disgenet
Aortic Valve, Bicuspid GATA6 disease C0149630 AlteredExpression 0.12 disgenet
Aortic Valve, Bicuspid TGFBR1 disease C0149630 Biomarker 0.12 disgenet
Aortic Valve, Bicuspid NR2F2 disease C0149630 Biomarker 0.11 disgenet
Aortic Valve, Bicuspid MMP14 disease C0149630 Biomarker 0.11 disgenet
Aortic Valve, Bicuspid NR2F2 disease C0149630 GeneticVariation 0.11 disgenet
Aortic Valve, Bicuspid TGFB2 disease C0149630 GeneticVariation 0.11 disgenet
Aortic Valve, Bicuspid B3GAT3 disease C0149630 Biomarker 0.11 disgenet
Aortic Valve, Bicuspid FBN2 disease C0149630 Biomarker 0.11 disgenet
Aortic Valve, Bicuspid TGFB2 disease C0149630 Biomarker 0.11 disgenet
Aortic Valve, Bicuspid LOX disease C0149630 AlteredExpression 0.11 disgenet
Aortic Valve, Bicuspid LOX disease C0149630 Biomarker 0.11 disgenet
Aortic Valve, Bicuspid B3GAT3 disease C0149630 AlteredExpression 0.11 disgenet
Aortic Valve, Bicuspid FBN2 disease C0149630 AlteredExpression 0.11 disgenet
Aortic Valve, Bicuspid MLXIPL disease C0149630 Biomarker 0.1 disgenet
Aortic Valve, Bicuspid ATP6 disease C0149630 CausalMutation 0.1 disgenet
Aortic Valve, Bicuspid GJA5 disease C0149630 Biomarker 0.1 disgenet
Aortic Valve, Bicuspid NAA10 disease C0149630 Biomarker 0.1 disgenet
Aortic Valve, Bicuspid FLNC disease C0149630 CausalMutation 0.1 disgenet
Aortic Valve, Bicuspid CTNNB1 disease C0149630 GeneticVariation 0.1 disgenet
Aortic Valve, Bicuspid FOXE3 disease C0149630 Biomarker 0.1 disgenet
Aortic Valve, Bicuspid TAB2 disease C0149630 Biomarker 0.1 disgenet
Aortic Valve, Bicuspid CRELD1 disease C0149630 Biomarker 0.1 disgenet
Aortic Valve, Bicuspid CLIP2 disease C0149630 Biomarker 0.1 disgenet
Aortic Valve, Bicuspid SRY disease C0149630 Biomarker 0.1 disgenet
Aortic Valve, Bicuspid GTF2I disease C0149630 Biomarker 0.1 disgenet
Aortic Valve, Bicuspid SMAD3 disease C0149630 Biomarker 0.1 disgenet
Aortic Valve, Bicuspid MCTP2 disease C0149630 Biomarker 0.1 disgenet
Aortic Valve, Bicuspid CCNQ disease C0149630 Biomarker 0.1 disgenet
Aortic Valve, Bicuspid CBL disease C0149630 Biomarker 0.1 disgenet
Aortic Valve, Bicuspid PACS1 disease C0149630 Biomarker 0.1 disgenet
Aortic Valve, Bicuspid GJA8 disease C0149630 Biomarker 0.1 disgenet
Aortic Valve, Bicuspid GTF2IRD1 disease C0149630 Biomarker 0.1 disgenet
Aortic Valve, Bicuspid FLNA disease C0149630 Biomarker 0.1 disgenet
Aortic Valve, Bicuspid TAB2 disease C0149630 GeneticVariation 0.1 disgenet
Aortic Valve, Bicuspid ATP8 disease C0149630 CausalMutation 0.1 disgenet
Aortic Valve, Bicuspid ABCC9 disease C0149630 Biomarker 0.1 disgenet
Aortic Valve, Bicuspid RPL26 disease C0149630 Biomarker 0.1 disgenet
Aortic Valve, Bicuspid DSP disease C0149630 CausalMutation 0.1 disgenet
Aortic Valve, Bicuspid MAP3K7 disease C0149630 Biomarker 0.1 disgenet
Aortic Valve, Bicuspid IFT122 disease C0149630 Biomarker 0.1 disgenet
Aortic Valve, Bicuspid RAC1 disease C0149630 Biomarker 0.1 disgenet
Aortic Valve, Bicuspid MAT2A disease C0149630 Biomarker 0.1 disgenet
Aortic Valve, Bicuspid SLC9A3R2 disease C0149630 GeneticVariation 0.1 disgenet
Aortic Valve, Bicuspid MYLK disease C0149630 Biomarker 0.1 disgenet
Aortic Valve, Bicuspid RFC2 disease C0149630 Biomarker 0.1 disgenet
Aortic Valve, Bicuspid MYH11 disease C0149630 Biomarker 0.1 disgenet
Aortic Valve, Bicuspid KANSL1 disease C0149630 Biomarker 0.1 disgenet
Aortic Valve, Bicuspid NXN disease C0149630 Biomarker 0.1 disgenet
Aortic Valve, Bicuspid BCOR disease C0149630 Biomarker 0.1 disgenet
Aortic Valve, Bicuspid B3GALT6 disease C0149630 Biomarker 0.1 disgenet
Aortic Valve, Bicuspid CHST3 disease C0149630 Biomarker 0.1 disgenet
Aortic Valve, Bicuspid BAZ1B disease C0149630 Biomarker 0.1 disgenet
Aortic Valve, Bicuspid SLC25A24 disease C0149630 Biomarker 0.1 disgenet
Aortic Valve, Bicuspid LIMK1 disease C0149630 Biomarker 0.1 disgenet
Aortic Valve, Bicuspid PRKG1 disease C0149630 Biomarker 0.1 disgenet
Aortic Valve, Bicuspid SKIV2L disease C0149630 Biomarker 0.1 disgenet
Aortic Valve, Bicuspid DSG1 disease C0149630 GeneticVariation 0.1 disgenet
Aortic Valve, Bicuspid ARHGAP31 disease C0149630 Biomarker 0.1 disgenet
Aortic Valve, Bicuspid TBL2 disease C0149630 Biomarker 0.1 disgenet
Aortic Valve, Bicuspid TGFB3 disease C0149630 Biomarker 0.1 disgenet
Aortic Valve, Bicuspid MFAP5 disease C0149630 Biomarker 0.1 disgenet
Aortic Valve, Bicuspid FOXF1 disease C0149630 Biomarker 0.1 disgenet
Aortic Valve, Bicuspid SNIP1 disease C0149630 Biomarker 0.1 disgenet
Aortic Valve, Bicuspid TTC37 disease C0149630 Biomarker 0.1 disgenet
Aortic Valve, Bicuspid LINC01708 disease C0149630 GeneticVariation 0.1 disgenet
Aortic Valve, Bicuspid TGFB1 disease C0149630 Biomarker 0.05 disgenet
Aortic Valve, Bicuspid TGFB1 disease C0149630 AlteredExpression 0.05 disgenet
Aortic Valve, Bicuspid TIMP1 disease C0149630 Biomarker 0.04 disgenet
Aortic Valve, Bicuspid TIMP1 disease C0149630 GeneticVariation 0.04 disgenet
Aortic Valve, Bicuspid TIMP3 disease C0149630 Biomarker 0.03 disgenet
Aortic Valve, Bicuspid TIMP3 disease C0149630 GeneticVariation 0.03 disgenet
Aortic Valve, Bicuspid MMP9 disease C0149630 AlteredExpression 0.03 disgenet
Aortic Valve, Bicuspid LPA disease C0149630 Biomarker 0.02 disgenet
Aortic Valve, Bicuspid LPA disease C0149630 GeneticVariation 0.02 disgenet
Aortic Valve, Bicuspid SPP1 disease C0149630 AlteredExpression 0.02 disgenet
Aortic Valve, Bicuspid ENG disease C0149630 GeneticVariation 0.02 disgenet
Aortic Valve, Bicuspid ENG disease C0149630 Biomarker 0.02 disgenet
Aortic Valve, Bicuspid TLR4 disease C0149630 Biomarker 0.02 disgenet
Aortic Valve, Bicuspid MIR424 disease C0149630 AlteredExpression 0.02 disgenet
Aortic Valve, Bicuspid TLR4 disease C0149630 AlteredExpression 0.02 disgenet
Aortic Valve, Bicuspid MIR424 disease C0149630 GeneticVariation 0.02 disgenet
Aortic Valve, Bicuspid MIR3688-1 disease C0149630 Biomarker 0.02 disgenet
Aortic Valve, Bicuspid CRAT disease C0149630 AlteredExpression 0.01 disgenet
Aortic Valve, Bicuspid UBC disease C0149630 AlteredExpression 0.01 disgenet
Aortic Valve, Bicuspid ITK disease C0149630 Biomarker 0.01 disgenet
Aortic Valve, Bicuspid SOD1 disease C0149630 AlteredExpression 0.01 disgenet
Aortic Valve, Bicuspid JUNB disease C0149630 Biomarker 0.01 disgenet
Aortic Valve, Bicuspid LTBP4 disease C0149630 Biomarker 0.01 disgenet
Aortic Valve, Bicuspid MIR17 disease C0149630 AlteredExpression 0.01 disgenet
Aortic Valve, Bicuspid CRK disease C0149630 AlteredExpression 0.01 disgenet
Aortic Valve, Bicuspid MIR29A disease C0149630 AlteredExpression 0.01 disgenet
Aortic Valve, Bicuspid EGR2 disease C0149630 Biomarker 0.01 disgenet
Aortic Valve, Bicuspid PLOD1 disease C0149630 AlteredExpression 0.01 disgenet
Aortic Valve, Bicuspid MATR3 disease C0149630 Biomarker 0.01 disgenet
Aortic Valve, Bicuspid CRP disease C0149630 Biomarker 0.01 disgenet
Aortic Valve, Bicuspid APOE disease C0149630 GeneticVariation 0.01 disgenet
Aortic Valve, Bicuspid AXIN1 disease C0149630 GeneticVariation 0.01 disgenet
Aortic Valve, Bicuspid MEFV disease C0149630 Biomarker 0.01 disgenet
Aortic Valve, Bicuspid POLDIP2 disease C0149630 AlteredExpression 0.01 disgenet
Aortic Valve, Bicuspid GIT1 disease C0149630 AlteredExpression 0.01 disgenet
Aortic Valve, Bicuspid ZEB2 disease C0149630 Biomarker 0.01 disgenet
Aortic Valve, Bicuspid FGF8 disease C0149630 Biomarker 0.01 disgenet
Aortic Valve, Bicuspid AHSA1 disease C0149630 AlteredExpression 0.01 disgenet
Aortic Valve, Bicuspid SLC22A3 disease C0149630 Biomarker 0.01 disgenet
Aortic Valve, Bicuspid ARSD disease C0149630 Biomarker 0.01 disgenet
Aortic Valve, Bicuspid MIR195 disease C0149630 AlteredExpression 0.01 disgenet
Aortic Valve, Bicuspid SLC7A1 disease C0149630 AlteredExpression 0.01 disgenet
Aortic Valve, Bicuspid FOSB disease C0149630 Biomarker 0.01 disgenet
Aortic Valve, Bicuspid GAPDH disease C0149630 AlteredExpression 0.01 disgenet
Aortic Valve, Bicuspid LTBP3 disease C0149630 Biomarker 0.01 disgenet
Aortic Valve, Bicuspid TRPV6 disease C0149630 AlteredExpression 0.01 disgenet
Aortic Valve, Bicuspid APLN disease C0149630 AlteredExpression 0.01 disgenet
Aortic Valve, Bicuspid MIR145 disease C0149630 AlteredExpression 0.01 disgenet
Aortic Valve, Bicuspid EGFR disease C0149630 GeneticVariation 0.01 disgenet
Aortic Valve, Bicuspid HMCN2 disease C0149630 Biomarker 0.01 disgenet
Aortic Valve, Bicuspid MIR106A disease C0149630 AlteredExpression 0.01 disgenet
Aortic Valve, Bicuspid AIMP2 disease C0149630 AlteredExpression 0.01 disgenet
Aortic Valve, Bicuspid QRSL1 disease C0149630 GeneticVariation 0.01 disgenet
Aortic Valve, Bicuspid MAA disease C0149630 Biomarker 0.01 disgenet
Aortic Valve, Bicuspid TEX26 disease C0149630 GeneticVariation 0.01 disgenet
Aortic Valve, Bicuspid TBX20 disease C0149630 Biomarker 0.01 disgenet
Aortic Valve, Bicuspid TNC disease C0149630 AlteredExpression 0.01 disgenet
Aortic Valve, Bicuspid GRAP2 disease C0149630 AlteredExpression 0.01 disgenet
Aortic Valve, Bicuspid AKT1 disease C0149630 Biomarker 0.01 disgenet
Aortic Valve, Bicuspid NF1 disease C0149630 Biomarker 0.01 disgenet
Aortic Valve, Bicuspid MAPK3 disease C0149630 AlteredExpression 0.01 disgenet
Aortic Valve, Bicuspid SOD2 disease C0149630 AlteredExpression 0.01 disgenet
Aortic Valve, Bicuspid FOS disease C0149630 AlteredExpression 0.01 disgenet
Aortic Valve, Bicuspid JUN disease C0149630 Biomarker 0.01 disgenet
Aortic Valve, Bicuspid NOS3 disease C0149630 Biomarker 0.01 disgenet
Aortic Valve, Bicuspid MIR27A disease C0149630 AlteredExpression 0.01 disgenet
Aortic Valve, Bicuspid VEGFA disease C0149630 Biomarker 0.01 disgenet
Aortic Valve, Bicuspid ACAN disease C0149630 AlteredExpression 0.01 disgenet
Aortic Valve, Bicuspid CCN2 disease C0149630 Biomarker 0.01 disgenet
Aortic Valve, Bicuspid LRP5 disease C0149630 Biomarker 0.01 disgenet
Aortic Valve, Bicuspid PDIA2 disease C0149630 GeneticVariation 0.01 disgenet
Aortic Valve, Bicuspid SSH3 disease C0149630 AlteredExpression 0.01 disgenet
Aortic Valve, Bicuspid ACE2 disease C0149630 AlteredExpression 0.01 disgenet
Aortic Valve, Bicuspid FN1 disease C0149630 AlteredExpression 0.01 disgenet
Aortic Valve, Bicuspid MIR486-1 disease C0149630 Biomarker 0.01 disgenet
Aortic Valve, Bicuspid PITX1 disease C0149630 Biomarker 0.01 disgenet
Aortic Valve, Bicuspid MMP1 disease C0149630 GeneticVariation 0.01 disgenet
Aortic Valve, Bicuspid MAPK1 disease C0149630 AlteredExpression 0.01 disgenet
Aortic Valve, Bicuspid MIR200C disease C0149630 AlteredExpression 0.01 disgenet
Aortic Valve, Bicuspid SMAD7 disease C0149630 AlteredExpression 0.01 disgenet
Aortic Valve, Bicuspid AGT disease C0149630 GeneticVariation 0.01 disgenet
Aortic Valve, Bicuspid JUND disease C0149630 Biomarker 0.01 disgenet
Aortic Valve, Bicuspid ATP6V0A2 disease C0149630 Biomarker 0.01 disgenet
Aortic Valve, Bicuspid ADAMTS5 disease C0149630 Biomarker 0.01 disgenet
Aortic Valve, Bicuspid ODC1 disease C0149630 AlteredExpression 0.01 disgenet
Aortic Valve, Bicuspid MAPK14 disease C0149630 AlteredExpression 0.01 disgenet
Aortic Valve, Bicuspid SOD3 disease C0149630 Biomarker 0.01 disgenet
Aortic Valve, Bicuspid SIRT1 disease C0149630 Biomarker 0.01 disgenet
Aortic Valve, Bicuspid RNF19A disease C0149630 AlteredExpression 0.01 disgenet
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