Disease Information | ||||||
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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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