Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Polydactyly GLI3 disease C0152427 GeneticVariation 0.7 disgenet
Polydactyly GLI3 disease C0152427 Biomarker 0.7 disgenet
Polydactyly KIAA0586 disease C0152427 Biomarker 0.51 disgenet
Polydactyly KIAA0586 disease C0152427 GeneticVariation 0.51 disgenet
Polydactyly IFT80 disease C0152427 Biomarker 0.5 disgenet
Polydactyly HOXD13 disease C0152427 GeneticVariation 0.45 disgenet
Polydactyly HOXD13 disease C0152427 CausalMutation 0.45 disgenet
Polydactyly HOXD13 disease C0152427 Biomarker 0.45 disgenet
Polydactyly LMBR1 disease C0152427 GeneticVariation 0.44 disgenet
Polydactyly LMBR1 disease C0152427 Biomarker 0.44 disgenet
Polydactyly LMBR1 disease C0152427 AlteredExpression 0.44 disgenet
Polydactyly MKS1 disease C0152427 Biomarker 0.43 disgenet
Polydactyly GLI2 disease C0152427 Biomarker 0.43 disgenet
Polydactyly MKKS disease C0152427 Biomarker 0.43 disgenet
Polydactyly MKS1 disease C0152427 CausalMutation 0.43 disgenet
Polydactyly DYNC2H1 disease C0152427 CausalMutation 0.43 disgenet
Polydactyly DYNC2H1 disease C0152427 GeneticVariation 0.43 disgenet
Polydactyly MKKS disease C0152427 GeneticVariation 0.43 disgenet
Polydactyly GLI2 disease C0152427 GeneticVariation 0.43 disgenet
Polydactyly DYNC2H1 disease C0152427 Biomarker 0.43 disgenet
Polydactyly BBS2 disease C0152427 CausalMutation 0.42 disgenet
Polydactyly BBS2 disease C0152427 Biomarker 0.42 disgenet
Polydactyly BHLHA9 disease C0152427 GeneticVariation 0.42 disgenet
Polydactyly BBS2 disease C0152427 GeneticVariation 0.42 disgenet
Polydactyly BHLHA9 disease C0152427 Biomarker 0.42 disgenet
Polydactyly BBS10 disease C0152427 Biomarker 0.41 disgenet
Polydactyly BBS10 disease C0152427 GeneticVariation 0.41 disgenet
Polydactyly BBS10 disease C0152427 CausalMutation 0.41 disgenet
Polydactyly B9D1 disease C0152427 Biomarker 0.41 disgenet
Polydactyly B9D1 disease C0152427 GeneticVariation 0.41 disgenet
Polydactyly BBS4 disease C0152427 CausalMutation 0.41 disgenet
Polydactyly BBS4 disease C0152427 Biomarker 0.41 disgenet
Polydactyly BBS4 disease C0152427 GeneticVariation 0.41 disgenet
Polydactyly TCTN3 disease C0152427 Biomarker 0.4 disgenet
Polydactyly BBS9 disease C0152427 CausalMutation 0.4 disgenet
Polydactyly TMEM231 disease C0152427 CausalMutation 0.4 disgenet
Polydactyly ARL6 disease C0152427 Biomarker 0.4 disgenet
Polydactyly DYNC2LI1 disease C0152427 CausalMutation 0.4 disgenet
Polydactyly BBS1 disease C0152427 CausalMutation 0.4 disgenet
Polydactyly BBS7 disease C0152427 Biomarker 0.4 disgenet
Polydactyly BBS1 disease C0152427 Biomarker 0.4 disgenet
Polydactyly DYNC2LI1 disease C0152427 Biomarker 0.4 disgenet
Polydactyly SMO disease C0152427 Biomarker 0.4 disgenet
Polydactyly GDF5 disease C0152427 Biomarker 0.4 disgenet
Polydactyly BBS9 disease C0152427 Biomarker 0.4 disgenet
Polydactyly TMEM231 disease C0152427 Biomarker 0.4 disgenet
Polydactyly CEP290 disease C0152427 Biomarker 0.4 disgenet
Polydactyly PIK3CA disease C0152427 Biomarker 0.4 disgenet
Polydactyly SMO disease C0152427 CausalMutation 0.4 disgenet
Polydactyly TMEM216 disease C0152427 Biomarker 0.4 disgenet
Polydactyly CEP41 disease C0152427 Biomarker 0.4 disgenet
Polydactyly TTC21B disease C0152427 Biomarker 0.4 disgenet
Polydactyly LBR disease C0152427 Biomarker 0.4 disgenet
Polydactyly CEP290 disease C0152427 CausalMutation 0.4 disgenet
Polydactyly TTC8 disease C0152427 Biomarker 0.4 disgenet
Polydactyly IFT27 disease C0152427 Biomarker 0.4 disgenet
Polydactyly OFD1 disease C0152427 Biomarker 0.4 disgenet
Polydactyly EBP disease C0152427 Biomarker 0.4 disgenet
Polydactyly BBS12 disease C0152427 CausalMutation 0.4 disgenet
Polydactyly EVC disease C0152427 CausalMutation 0.4 disgenet
Polydactyly EVC disease C0152427 GeneticVariation 0.4 disgenet
Polydactyly BBS12 disease C0152427 Biomarker 0.4 disgenet
Polydactyly EVC disease C0152427 Biomarker 0.4 disgenet
Polydactyly TRIM32 disease C0152427 Biomarker 0.4 disgenet
Polydactyly SHH disease C0152427 AlteredExpression 0.34 orphanet , disgenet
Polydactyly SHH disease C0152427 Biomarker 0.34 orphanet , disgenet
Polydactyly SHH disease C0152427 GeneticVariation 0.34 orphanet , disgenet
Polydactyly PITX1 disease C0152427 Biomarker 0.33 disgenet
Polydactyly PITX1 disease C0152427 GeneticVariation 0.33 disgenet
Polydactyly TWIST1 disease C0152427 AlteredExpression 0.32 disgenet
Polydactyly KIF7 disease C0152427 GeneticVariation 0.32 disgenet
Polydactyly TWIST1 disease C0152427 Biomarker 0.32 disgenet
Polydactyly KIF7 disease C0152427 Biomarker 0.32 disgenet
Polydactyly BMP4 disease C0152427 Biomarker 0.32 disgenet
Polydactyly BMP4 disease C0152427 GeneticVariation 0.32 disgenet
Polydactyly WDR60 disease C0152427 GeneticVariation 0.32 disgenet
Polydactyly TMEM67 disease C0152427 Biomarker 0.32 disgenet
Polydactyly WDR60 disease C0152427 Biomarker 0.32 disgenet
Polydactyly INPP5E disease C0152427 Biomarker 0.32 disgenet
Polydactyly LZTFL1 disease C0152427 Biomarker 0.31 disgenet
Polydactyly IFT88 disease C0152427 Biomarker 0.31 disgenet
Polydactyly PTEN disease C0152427 GeneticVariation 0.31 disgenet
Polydactyly HNRNPK disease C0152427 Biomarker 0.31 disgenet
Polydactyly MIPOL1 disease C0152427 Biomarker 0.31 disgenet
Polydactyly MIPOL1 disease C0152427 GeneticVariation 0.31 disgenet
Polydactyly PTEN disease C0152427 Biomarker 0.31 disgenet
Polydactyly HNRNPK disease C0152427 GeneticVariation 0.31 disgenet
Polydactyly FGFR2 disease C0152427 Biomarker 0.31 disgenet
Polydactyly NEK1 disease C0152427 Biomarker 0.31 disgenet
Polydactyly FGFR2 disease C0152427 GeneticVariation 0.31 disgenet
Polydactyly CD96 disease C0152427 Biomarker 0.3 disgenet
Polydactyly SC5D disease C0152427 Biomarker 0.3 disgenet
Polydactyly ARMC8 disease C0152427 Biomarker 0.3 disgenet
Polydactyly B9D2 disease C0152427 Biomarker 0.3 disgenet
Polydactyly FGFR1 disease C0152427 Biomarker 0.3 disgenet
Polydactyly UBE3B disease C0152427 Biomarker 0.3 disgenet
Polydactyly PROM1 disease C0152427 Biomarker 0.3 disgenet
Polydactyly PNPLA6 disease C0152427 Biomarker 0.3 disgenet
Polydactyly SALL1 disease C0152427 Biomarker 0.3 disgenet
Polydactyly USP9X disease C0152427 Biomarker 0.3 disgenet
Polydactyly AHI1 disease C0152427 Biomarker 0.3 disgenet
Polydactyly CC2D2A disease C0152427 Biomarker 0.3 disgenet
Polydactyly CEP120 disease C0152427 Biomarker 0.3 disgenet
Polydactyly ALX4 disease C0152427 Biomarker 0.3 disgenet
Polydactyly CKAP2L disease C0152427 Biomarker 0.3 disgenet
Polydactyly TCTEX1D2 disease C0152427 Biomarker 0.3 disgenet
Polydactyly TCTN2 disease C0152427 Biomarker 0.3 disgenet
Polydactyly TFAP2A disease C0152427 Biomarker 0.3 disgenet
Polydactyly PDE6D disease C0152427 Biomarker 0.3 disgenet
Polydactyly GRIP1 disease C0152427 Biomarker 0.3 disgenet
Polydactyly KIF3A disease C0152427 Biomarker 0.3 disgenet
Polydactyly BBS5 disease C0152427 Biomarker 0.3 disgenet
Polydactyly TMEM138 disease C0152427 Biomarker 0.3 disgenet
Polydactyly WNT7A disease C0152427 Biomarker 0.3 disgenet
Polydactyly PIK3R2 disease C0152427 Biomarker 0.3 disgenet
Polydactyly TBX5 disease C0152427 Biomarker 0.3 disgenet
Polydactyly NPHP3 disease C0152427 Biomarker 0.3 disgenet
Polydactyly RAB23 disease C0152427 Biomarker 0.3 disgenet
Polydactyly ALX3 disease C0152427 Biomarker 0.3 disgenet
Polydactyly CSPP1 disease C0152427 Biomarker 0.3 disgenet
Polydactyly IFT43 disease C0152427 Biomarker 0.3 disgenet
Polydactyly CCND2 disease C0152427 Biomarker 0.3 disgenet
Polydactyly MBTPS2 disease C0152427 Biomarker 0.3 disgenet
Polydactyly TRAF3IP1 disease C0152427 Biomarker 0.3 disgenet
Polydactyly CPLANE1 disease C0152427 Biomarker 0.3 disgenet
Polydactyly AKT3 disease C0152427 Biomarker 0.3 disgenet
Polydactyly FRAS1 disease C0152427 Biomarker 0.3 disgenet
Polydactyly IFT172 disease C0152427 Biomarker 0.3 disgenet
Polydactyly SMOC1 disease C0152427 Biomarker 0.3 disgenet
Polydactyly SPINT2 disease C0152427 Biomarker 0.3 disgenet
Polydactyly CENPF disease C0152427 Biomarker 0.3 disgenet
Polydactyly IFT140 disease C0152427 Biomarker 0.3 disgenet
Polydactyly FREM2 disease C0152427 Biomarker 0.3 disgenet
Polydactyly TBX22 disease C0152427 Biomarker 0.3 disgenet
Polydactyly GPC3 disease C0152427 Biomarker 0.3 disgenet
Polydactyly ZNF141 disease C0152427 Biomarker 0.3 disgenet
Polydactyly PORCN disease C0152427 Biomarker 0.3 disgenet
Polydactyly RBM10 disease C0152427 Biomarker 0.3 disgenet
Polydactyly TFAP2B disease C0152427 Biomarker 0.3 disgenet
Polydactyly FGFR3 disease C0152427 Biomarker 0.3 disgenet
Polydactyly DDX59 disease C0152427 Biomarker 0.3 disgenet
Polydactyly IFT52 disease C0152427 Biomarker 0.3 disgenet
Polydactyly HOXA13 disease C0152427 Biomarker 0.3 disgenet
Polydactyly TBX3 disease C0152427 Biomarker 0.3 disgenet
Polydactyly EVC2 disease C0152427 Biomarker 0.3 disgenet
Polydactyly RPGRIP1L disease C0152427 Biomarker 0.3 disgenet
Polydactyly LRP4 disease C0152427 Biomarker 0.3 disgenet
Polydactyly TMEM237 disease C0152427 Biomarker 0.3 disgenet
Polydactyly HYLS1 disease C0152427 Biomarker 0.3 disgenet
Polydactyly FGF10 disease C0152427 Biomarker 0.3 disgenet
Polydactyly ALMS1 disease C0152427 Biomarker 0.3 disgenet
Polydactyly SALL4 disease C0152427 Biomarker 0.3 disgenet
Polydactyly CILK1 disease C0152427 Biomarker 0.3 disgenet
Polydactyly C2CD3 disease C0152427 Biomarker 0.3 disgenet
Polydactyly CEP164 disease C0152427 Biomarker 0.3 disgenet
Polydactyly MEGF8 disease C0152427 Biomarker 0.3 disgenet
Polydactyly FAM92A disease C0152427 GeneticVariation 0.21 disgenet
Polydactyly FAM92A disease C0152427 Biomarker 0.21 disgenet
Polydactyly ZBTB16 disease C0152427 Biomarker 0.2 disgenet
Polydactyly WDR35 disease C0152427 Biomarker 0.12 disgenet
Polydactyly WDR35 disease C0152427 GeneticVariation 0.12 disgenet
Polydactyly CREBBP disease C0152427 Biomarker 0.11 disgenet
Polydactyly STAG2 disease C0152427 Biomarker 0.11 disgenet
Polydactyly STAG2 disease C0152427 GeneticVariation 0.11 disgenet
Polydactyly WNT10B disease C0152427 GeneticVariation 0.11 disgenet
Polydactyly CREBBP disease C0152427 GeneticVariation 0.11 disgenet
Polydactyly INTU disease C0152427 Biomarker 0.1 disgenet
Polydactyly LHX4 disease C0152427 Biomarker 0.1 disgenet
Polydactyly FBLN1 disease C0152427 Biomarker 0.1 disgenet
Polydactyly PTCH2 disease C0152427 Biomarker 0.1 disgenet
Polydactyly PTCH1 disease C0152427 Biomarker 0.1 disgenet
Polydactyly PUF60 disease C0152427 GeneticVariation 0.1 disgenet
Polydactyly TXNDC15 disease C0152427 GeneticVariation 0.1 disgenet
Polydactyly PIGX disease C0152427 CausalMutation 0.1 disgenet
Polydactyly ZRS disease C0152427 Biomarker 0.1 disgenet
Polydactyly ZRS disease C0152427 GeneticVariation 0.1 disgenet
Polydactyly POU1F1 disease C0152427 Biomarker 0.1 disgenet
Polydactyly OTX2 disease C0152427 Biomarker 0.1 disgenet
Polydactyly ZDHHC24 disease C0152427 CausalMutation 0.1 disgenet
Polydactyly CDCA7 disease C0152427 Biomarker 0.1 disgenet
Polydactyly ADNP disease C0152427 Biomarker 0.1 disgenet
Polydactyly CRMP1 disease C0152427 CausalMutation 0.1 disgenet
Polydactyly HESX1 disease C0152427 Biomarker 0.1 disgenet
Polydactyly IFT74 disease C0152427 Biomarker 0.1 disgenet
Polydactyly FAM98C disease C0152427 GeneticVariation 0.1 disgenet
Polydactyly SUFU disease C0152427 Biomarker 0.1 disgenet
Polydactyly TRAPPC3 disease C0152427 GeneticVariation 0.1 disgenet
Polydactyly CEP19 disease C0152427 CausalMutation 0.1 disgenet
Polydactyly EP300 disease C0152427 Biomarker 0.1 disgenet
Polydactyly ZSWIM6 disease C0152427 Biomarker 0.1 disgenet
Polydactyly PROP1 disease C0152427 Biomarker 0.1 disgenet
Polydactyly SDCCAG8 disease C0152427 GeneticVariation 0.03 disgenet
Polydactyly SDCCAG8 disease C0152427 Biomarker 0.03 disgenet
Polydactyly DHCR7 disease C0152427 Biomarker 0.02 disgenet
Polydactyly GLI1 disease C0152427 GeneticVariation 0.02 disgenet
Polydactyly GATA6 disease C0152427 PosttranslationalModification 0.02 disgenet
Polydactyly GLI1 disease C0152427 Biomarker 0.02 disgenet
Polydactyly GATA6 disease C0152427 Biomarker 0.02 disgenet
Polydactyly DYNLL1 disease C0152427 Biomarker 0.01 disgenet
Polydactyly DKK1 disease C0152427 Biomarker 0.01 disgenet
Polydactyly CCN6 disease C0152427 GeneticVariation 0.01 disgenet
Polydactyly DEL11P13 disease C0152427 Biomarker 0.01 disgenet
Polydactyly ZIC2 disease C0152427 Biomarker 0.01 disgenet
Polydactyly FBXW11 disease C0152427 Biomarker 0.01 disgenet
Polydactyly ANPEP disease C0152427 Biomarker 0.01 disgenet
Polydactyly PDSS1 disease C0152427 AlteredExpression 0.01 disgenet
Polydactyly SAG disease C0152427 Biomarker 0.01 disgenet
Polydactyly RAB34 disease C0152427 GeneticVariation 0.01 disgenet
Polydactyly RRDX disease C0152427 Biomarker 0.01 disgenet
Polydactyly DISP1 disease C0152427 GeneticVariation 0.01 disgenet
Polydactyly TULP3 disease C0152427 Biomarker 0.01 disgenet
Polydactyly HPD disease C0152427 GeneticVariation 0.01 disgenet
Polydactyly TGIF1 disease C0152427 Biomarker 0.01 disgenet
Polydactyly TGFB1 disease C0152427 Biomarker 0.01 disgenet
Polydactyly AGO2 disease C0152427 GeneticVariation 0.01 disgenet
Polydactyly VSX1 disease C0152427 GeneticVariation 0.01 disgenet
Polydactyly PCBD1 disease C0152427 GeneticVariation 0.01 disgenet
Polydactyly C8orf37 disease C0152427 GeneticVariation 0.01 disgenet
Polydactyly ELN disease C0152427 AlteredExpression 0.01 disgenet
Polydactyly SMAD4 disease C0152427 GeneticVariation 0.01 disgenet
Polydactyly STKLD1 disease C0152427 GeneticVariation 0.01 disgenet
Polydactyly MGS disease C0152427 Biomarker 0.01 disgenet
Polydactyly IQCE disease C0152427 GeneticVariation 0.01 disgenet
Polydactyly ARMC9 disease C0152427 GeneticVariation 0.01 disgenet
Polydactyly GPC4 disease C0152427 Biomarker 0.01 disgenet
Polydactyly TMEM107 disease C0152427 GeneticVariation 0.01 disgenet
Polydactyly UCN2 disease C0152427 Biomarker 0.01 disgenet
Polydactyly IL10 disease C0152427 Biomarker 0.01 disgenet
Polydactyly BRD2 disease C0152427 GeneticVariation 0.01 disgenet
Polydactyly GGA2 disease C0152427 GeneticVariation 0.01 disgenet
Polydactyly PAX6 disease C0152427 Biomarker 0.01 disgenet
Polydactyly MME disease C0152427 Biomarker 0.01 disgenet
Polydactyly FOXA2 disease C0152427 GeneticVariation 0.01 disgenet
Polydactyly KPNA4 disease C0152427 GeneticVariation 0.01 disgenet
Polydactyly WT1 disease C0152427 Biomarker 0.01 disgenet
Polydactyly MAP3K20 NA C0152427 NA NA orphanet
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