Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Encephalocele NID1 disease C0014065 Biomarker 0.12 disgenet
Encephalocele NID1 disease C0014065 GeneticVariation 0.12 disgenet
Encephalocele MSX2 disease C0014065 Biomarker 0.11 disgenet
Encephalocele FKTN disease C0014065 Biomarker 0.11 disgenet
Encephalocele TMEM67 disease C0014065 Biomarker 0.11 disgenet
Encephalocele FKTN disease C0014065 GeneticVariation 0.11 disgenet
Encephalocele MKS1 disease C0014065 Biomarker 0.11 disgenet
Encephalocele DLL4 disease C0014065 Biomarker 0.1 disgenet
Encephalocele RPGRIP1L disease C0014065 Biomarker 0.1 disgenet
Encephalocele CSPP1 disease C0014065 Biomarker 0.1 disgenet
Encephalocele CPLANE1 disease C0014065 Biomarker 0.1 disgenet
Encephalocele TCOF1 disease C0014065 Biomarker 0.1 disgenet
Encephalocele ARL13B disease C0014065 Biomarker 0.1 disgenet
Encephalocele AHI1 disease C0014065 Biomarker 0.1 disgenet
Encephalocele DOCK6 disease C0014065 Biomarker 0.1 disgenet
Encephalocele FGFR1 disease C0014065 Biomarker 0.1 disgenet
Encephalocele ALX4 disease C0014065 Biomarker 0.1 disgenet
Encephalocele RPE65 disease C0014065 Biomarker 0.1 disgenet
Encephalocele TMEM237 disease C0014065 Biomarker 0.1 disgenet
Encephalocele SPATA7 disease C0014065 Biomarker 0.1 disgenet
Encephalocele POLR1C disease C0014065 Biomarker 0.1 disgenet
Encephalocele WDPCP disease C0014065 Biomarker 0.1 disgenet
Encephalocele CRX disease C0014065 Biomarker 0.1 disgenet
Encephalocele FREM2 disease C0014065 Biomarker 0.1 disgenet
Encephalocele CEP55 disease C0014065 Biomarker 0.1 disgenet
Encephalocele NMNAT1 disease C0014065 Biomarker 0.1 disgenet
Encephalocele RBPJ disease C0014065 Biomarker 0.1 disgenet
Encephalocele FRAS1 disease C0014065 Biomarker 0.1 disgenet
Encephalocele CEP104 disease C0014065 Biomarker 0.1 disgenet
Encephalocele KCNJ13 disease C0014065 Biomarker 0.1 disgenet
Encephalocele INPP5E disease C0014065 Biomarker 0.1 disgenet
Encephalocele FGFR3 disease C0014065 Biomarker 0.1 disgenet
Encephalocele ARHGAP31 disease C0014065 Biomarker 0.1 disgenet
Encephalocele GUCY2D disease C0014065 Biomarker 0.1 disgenet
Encephalocele B9D1 disease C0014065 Biomarker 0.1 disgenet
Encephalocele TULP1 disease C0014065 Biomarker 0.1 disgenet
Encephalocele PIBF1 disease C0014065 CausalMutation 0.1 disgenet
Encephalocele LRAT disease C0014065 Biomarker 0.1 disgenet
Encephalocele PIBF1 disease C0014065 Biomarker 0.1 disgenet
Encephalocele FLNB disease C0014065 Biomarker 0.1 disgenet
Encephalocele RDH12 disease C0014065 Biomarker 0.1 disgenet
Encephalocele NOTCH1 disease C0014065 Biomarker 0.1 disgenet
Encephalocele AIPL1 disease C0014065 Biomarker 0.1 disgenet
Encephalocele POLR1D disease C0014065 Biomarker 0.1 disgenet
Encephalocele IFT140 disease C0014065 Biomarker 0.1 disgenet
Encephalocele ARL3 disease C0014065 Biomarker 0.1 disgenet
Encephalocele IMPDH1 disease C0014065 Biomarker 0.1 disgenet
Encephalocele TMEM231 disease C0014065 Biomarker 0.1 disgenet
Encephalocele ARMC9 disease C0014065 Biomarker 0.1 disgenet
Encephalocele TMEM216 disease C0014065 Biomarker 0.1 disgenet
Encephalocele TMEM138 disease C0014065 Biomarker 0.1 disgenet
Encephalocele GDF6 disease C0014065 Biomarker 0.1 disgenet
Encephalocele TCTN2 disease C0014065 Biomarker 0.1 disgenet
Encephalocele CC2D2A disease C0014065 Biomarker 0.1 disgenet
Encephalocele CEP41 disease C0014065 Biomarker 0.1 disgenet
Encephalocele CEP120 disease C0014065 Biomarker 0.1 disgenet
Encephalocele PCYT1A disease C0014065 Biomarker 0.1 disgenet
Encephalocele ZNF423 disease C0014065 Biomarker 0.1 disgenet
Encephalocele TMEM107 disease C0014065 Biomarker 0.1 disgenet
Encephalocele TCTN1 disease C0014065 Biomarker 0.1 disgenet
Encephalocele RPGRIP1 disease C0014065 Biomarker 0.1 disgenet
Encephalocele CRB1 disease C0014065 Biomarker 0.1 disgenet
Encephalocele RD3 disease C0014065 Biomarker 0.1 disgenet
Encephalocele CRPPA disease C0014065 Biomarker 0.1 disgenet
Encephalocele IQCB1 disease C0014065 Biomarker 0.1 disgenet
Encephalocele CEP290 disease C0014065 Biomarker 0.1 disgenet
Encephalocele HYLS1 disease C0014065 Biomarker 0.1 disgenet
Encephalocele ZSWIM6 disease C0014065 Biomarker 0.1 disgenet
Encephalocele EOGT disease C0014065 Biomarker 0.1 disgenet
Encephalocele B9D2 disease C0014065 Biomarker 0.1 disgenet
Encephalocele USP45 disease C0014065 Biomarker 0.1 disgenet
Encephalocele GRIP1 disease C0014065 Biomarker 0.1 disgenet
Encephalocele NPHP1 disease C0014065 Biomarker 0.1 disgenet
Encephalocele FLNA disease C0014065 Biomarker 0.1 disgenet
Encephalocele LCA5 disease C0014065 Biomarker 0.1 disgenet
Encephalocele KIAA0586 disease C0014065 Biomarker 0.1 disgenet
Encephalocele KIAA0556 disease C0014065 Biomarker 0.1 disgenet
Encephalocele LAMC2 disease C0014065 Biomarker 0.04 disgenet
Encephalocele LAMC2 disease C0014065 GeneticVariation 0.04 disgenet
Encephalocele CSF2 disease C0014065 GeneticVariation 0.04 disgenet
Encephalocele CSF2 disease C0014065 Biomarker 0.04 disgenet
Encephalocele CASP3 disease C0014065 AlteredExpression 0.01 disgenet
Encephalocele BBS2 disease C0014065 GeneticVariation 0.01 disgenet
Encephalocele LAMC1 disease C0014065 GeneticVariation 0.01 disgenet
Encephalocele COL18A1 disease C0014065 GeneticVariation 0.01 disgenet
Encephalocele SOX2 disease C0014065 Biomarker 0.01 disgenet
Encephalocele PAX3 disease C0014065 AlteredExpression 0.01 disgenet
Encephalocele TP53 disease C0014065 AlteredExpression 0.01 disgenet
Encephalocele WDR63 disease C0014065 Biomarker 0.01 disgenet
Encephalocele ALX3 disease C0014065 GeneticVariation 0.01 disgenet
Encephalocele FUZ disease C0014065 GeneticVariation 0.01 disgenet
Encephalocele GRHL3 disease C0014065 GeneticVariation 0.01 disgenet
Encephalocele TFAP2A disease C0014065 GeneticVariation 0.01 disgenet
Encephalocele RMND5A disease C0014065 GeneticVariation 0.01 disgenet
Encephalocele SUFU disease C0014065 GeneticVariation 0.01 disgenet
Encephalocele MMRN1 disease C0014065 GeneticVariation 0.01 disgenet
Encephalocele CASP8 disease C0014065 AlteredExpression 0.01 disgenet
Encephalocele CASP9 disease C0014065 AlteredExpression 0.01 disgenet
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