Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Dysraphism, Spinal MTHFR disease C0080178 Biomarker 0.5 disgenet
Dysraphism, Spinal MTHFR disease C0080178 GeneticVariation 0.5 disgenet
Dysraphism, Spinal PAX3 disease C0080178 GeneticVariation 0.48 disgenet
Dysraphism, Spinal PAX3 disease C0080178 Biomarker 0.48 disgenet
Dysraphism, Spinal PAX3 disease C0080178 AlteredExpression 0.48 disgenet
Dysraphism, Spinal PDGFRA disease C0080178 Biomarker 0.35 disgenet
Dysraphism, Spinal PDGFRA disease C0080178 GeneticVariation 0.35 disgenet
Dysraphism, Spinal PDGFRA disease C0080178 AlteredExpression 0.35 disgenet
Dysraphism, Spinal VANGL2 disease C0080178 Biomarker 0.33 disgenet
Dysraphism, Spinal VANGL2 disease C0080178 GeneticVariation 0.33 disgenet
Dysraphism, Spinal PCMT1 disease C0080178 GeneticVariation 0.32 disgenet
Dysraphism, Spinal PCMT1 disease C0080178 Biomarker 0.32 disgenet
Dysraphism, Spinal PCYT1A disease C0080178 Biomarker 0.31 disgenet
Dysraphism, Spinal PCYT1A disease C0080178 GeneticVariation 0.31 disgenet
Dysraphism, Spinal PON1 disease C0080178 Biomarker 0.31 disgenet
Dysraphism, Spinal CHKA disease C0080178 Biomarker 0.31 disgenet
Dysraphism, Spinal PON1 disease C0080178 GeneticVariation 0.31 disgenet
Dysraphism, Spinal TXN2 disease C0080178 Biomarker 0.31 disgenet
Dysraphism, Spinal CFL1 disease C0080178 GeneticVariation 0.31 disgenet
Dysraphism, Spinal TXN2 disease C0080178 GeneticVariation 0.31 disgenet
Dysraphism, Spinal CHKA disease C0080178 GeneticVariation 0.31 disgenet
Dysraphism, Spinal CFL1 disease C0080178 Biomarker 0.31 disgenet
Dysraphism, Spinal CCL2 disease C0080178 Biomarker 0.31 disgenet
Dysraphism, Spinal CCL2 disease C0080178 GeneticVariation 0.31 disgenet
Dysraphism, Spinal FGFR2 disease C0080178 Biomarker 0.3 disgenet
Dysraphism, Spinal SUZ12 disease C0080178 Biomarker 0.2 disgenet
Dysraphism, Spinal RNF2 disease C0080178 Biomarker 0.2 disgenet
Dysraphism, Spinal MTRR disease C0080178 Biomarker 0.18 disgenet
Dysraphism, Spinal MTRR disease C0080178 GeneticVariation 0.18 disgenet
Dysraphism, Spinal MTR disease C0080178 Biomarker 0.15 disgenet
Dysraphism, Spinal MTR disease C0080178 GeneticVariation 0.15 disgenet
Dysraphism, Spinal MTHFD1 disease C0080178 GeneticVariation 0.12 disgenet
Dysraphism, Spinal MTHFD1 disease C0080178 Biomarker 0.12 disgenet
Dysraphism, Spinal BRCA1 disease C0080178 GeneticVariation 0.11 disgenet
Dysraphism, Spinal BRCA1 disease C0080178 Biomarker 0.11 disgenet
Dysraphism, Spinal PTCH1 disease C0080178 Biomarker 0.11 disgenet
Dysraphism, Spinal SLC25A1 disease C0080178 GeneticVariation 0.11 disgenet
Dysraphism, Spinal PTCH1 disease C0080178 GeneticVariation 0.11 disgenet
Dysraphism, Spinal SLX4 disease C0080178 Biomarker 0.1 disgenet
Dysraphism, Spinal FANCM disease C0080178 Biomarker 0.1 disgenet
Dysraphism, Spinal SLC25A19 disease C0080178 Biomarker 0.1 disgenet
Dysraphism, Spinal FANCF disease C0080178 Biomarker 0.1 disgenet
Dysraphism, Spinal MAD2L2 disease C0080178 Biomarker 0.1 disgenet
Dysraphism, Spinal XRCC2 disease C0080178 Biomarker 0.1 disgenet
Dysraphism, Spinal RAD51 disease C0080178 Biomarker 0.1 disgenet
Dysraphism, Spinal BMS1 disease C0080178 Biomarker 0.1 disgenet
Dysraphism, Spinal UBE2T disease C0080178 Biomarker 0.1 disgenet
Dysraphism, Spinal DLL4 disease C0080178 Biomarker 0.1 disgenet
Dysraphism, Spinal ERCC4 disease C0080178 Biomarker 0.1 disgenet
Dysraphism, Spinal PALB2 disease C0080178 Biomarker 0.1 disgenet
Dysraphism, Spinal GDF6 disease C0080178 Biomarker 0.1 disgenet
Dysraphism, Spinal RBM8A disease C0080178 Biomarker 0.1 disgenet
Dysraphism, Spinal PHGDH disease C0080178 Biomarker 0.1 disgenet
Dysraphism, Spinal SUFU disease C0080178 Biomarker 0.1 disgenet
Dysraphism, Spinal FANCG disease C0080178 Biomarker 0.1 disgenet
Dysraphism, Spinal BRIP1 disease C0080178 Biomarker 0.1 disgenet
Dysraphism, Spinal FANCA disease C0080178 Biomarker 0.1 disgenet
Dysraphism, Spinal PTCH2 disease C0080178 Biomarker 0.1 disgenet
Dysraphism, Spinal FANCE disease C0080178 Biomarker 0.1 disgenet
Dysraphism, Spinal FANCC disease C0080178 Biomarker 0.1 disgenet
Dysraphism, Spinal PORCN disease C0080178 Biomarker 0.1 disgenet
Dysraphism, Spinal FANCL disease C0080178 Biomarker 0.1 disgenet
Dysraphism, Spinal TRIM36 disease C0080178 Biomarker 0.1 disgenet
Dysraphism, Spinal BRCA2 disease C0080178 Biomarker 0.1 disgenet
Dysraphism, Spinal HAAO disease C0080178 CausalMutation 0.1 disgenet
Dysraphism, Spinal LMX1B disease C0080178 Biomarker 0.1 disgenet
Dysraphism, Spinal RMRP disease C0080178 Biomarker 0.1 disgenet
Dysraphism, Spinal MEOX1 disease C0080178 Biomarker 0.1 disgenet
Dysraphism, Spinal HAAO disease C0080178 Biomarker 0.1 disgenet
Dysraphism, Spinal FLI1 disease C0080178 Biomarker 0.1 disgenet
Dysraphism, Spinal FANCI disease C0080178 Biomarker 0.1 disgenet
Dysraphism, Spinal GDF3 disease C0080178 Biomarker 0.1 disgenet
Dysraphism, Spinal PSAT1 disease C0080178 Biomarker 0.1 disgenet
Dysraphism, Spinal KIF22 disease C0080178 Biomarker 0.1 disgenet
Dysraphism, Spinal CREBBP disease C0080178 GeneticVariation 0.1 disgenet
Dysraphism, Spinal RFWD3 disease C0080178 Biomarker 0.1 disgenet
Dysraphism, Spinal RAD51C disease C0080178 Biomarker 0.1 disgenet
Dysraphism, Spinal FANCD2 disease C0080178 Biomarker 0.1 disgenet
Dysraphism, Spinal FANCB disease C0080178 Biomarker 0.1 disgenet
Dysraphism, Spinal FUZ disease C0080178 GeneticVariation 0.04 disgenet
Dysraphism, Spinal ZIC2 disease C0080178 Biomarker 0.04 disgenet
Dysraphism, Spinal GRHL3 disease C0080178 GeneticVariation 0.04 disgenet
Dysraphism, Spinal DHFR disease C0080178 Biomarker 0.04 disgenet
Dysraphism, Spinal GRHL3 disease C0080178 Biomarker 0.04 disgenet
Dysraphism, Spinal DHFR disease C0080178 GeneticVariation 0.04 disgenet
Dysraphism, Spinal GRHL3 disease C0080178 AlteredExpression 0.04 disgenet
Dysraphism, Spinal ZIC2 disease C0080178 GeneticVariation 0.04 disgenet
Dysraphism, Spinal TYMS disease C0080178 Biomarker 0.03 disgenet
Dysraphism, Spinal NAT1 disease C0080178 GeneticVariation 0.03 disgenet
Dysraphism, Spinal CBS disease C0080178 GeneticVariation 0.03 disgenet
Dysraphism, Spinal TYMS disease C0080178 GeneticVariation 0.03 disgenet
Dysraphism, Spinal PTK7 disease C0080178 GeneticVariation 0.03 disgenet
Dysraphism, Spinal BHMT disease C0080178 GeneticVariation 0.03 disgenet
Dysraphism, Spinal LEPR disease C0080178 Biomarker 0.03 disgenet
Dysraphism, Spinal BHMT disease C0080178 Biomarker 0.03 disgenet
Dysraphism, Spinal PTK7 disease C0080178 Biomarker 0.03 disgenet
Dysraphism, Spinal NOS3 disease C0080178 GeneticVariation 0.03 disgenet
Dysraphism, Spinal CELSR1 disease C0080178 GeneticVariation 0.03 disgenet
Dysraphism, Spinal PGPEP1 disease C0080178 GeneticVariation 0.02 disgenet
Dysraphism, Spinal AFP disease C0080178 Biomarker 0.02 disgenet
Dysraphism, Spinal TIMP2 disease C0080178 GeneticVariation 0.02 disgenet
Dysraphism, Spinal CYP26A1 disease C0080178 Biomarker 0.02 disgenet
Dysraphism, Spinal TIMP2 disease C0080178 Biomarker 0.02 disgenet
Dysraphism, Spinal CBSL disease C0080178 GeneticVariation 0.02 disgenet
Dysraphism, Spinal PRCP disease C0080178 GeneticVariation 0.02 disgenet
Dysraphism, Spinal PAX1 disease C0080178 GeneticVariation 0.02 disgenet
Dysraphism, Spinal GRHL2 disease C0080178 GeneticVariation 0.02 disgenet
Dysraphism, Spinal FOLR1 disease C0080178 GeneticVariation 0.02 disgenet
Dysraphism, Spinal FOLR2 disease C0080178 GeneticVariation 0.02 disgenet
Dysraphism, Spinal SLC19A1 disease C0080178 GeneticVariation 0.02 disgenet
Dysraphism, Spinal COMT disease C0080178 GeneticVariation 0.02 disgenet
Dysraphism, Spinal SCRIB disease C0080178 GeneticVariation 0.02 disgenet
Dysraphism, Spinal CYP26A1 disease C0080178 GeneticVariation 0.02 disgenet
Dysraphism, Spinal GRHL2 disease C0080178 AlteredExpression 0.02 disgenet
Dysraphism, Spinal BMP1 disease C0080178 GeneticVariation 0.02 disgenet
Dysraphism, Spinal TGFB1 disease C0080178 AlteredExpression 0.01 disgenet
Dysraphism, Spinal TP53 disease C0080178 AlteredExpression 0.01 disgenet
Dysraphism, Spinal JUN disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal SLC39A4 disease C0080178 Biomarker 0.01 disgenet
Dysraphism, Spinal ERCC2 disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal DVL1 disease C0080178 Biomarker 0.01 disgenet
Dysraphism, Spinal PCSK9 disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal CASP3 disease C0080178 AlteredExpression 0.01 disgenet
Dysraphism, Spinal HK1 disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal HOXD@ disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal GPC5 disease C0080178 Biomarker 0.01 disgenet
Dysraphism, Spinal HOXA@ disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal IL18 disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal CD200R1 disease C0080178 Biomarker 0.01 disgenet
Dysraphism, Spinal HOXB@ disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal FKBP8 disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal RFC1 disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal ITPK1 disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal ARSA disease C0080178 Biomarker 0.01 disgenet
Dysraphism, Spinal ALDH1L1 disease C0080178 Biomarker 0.01 disgenet
Dysraphism, Spinal TRDMT1 disease C0080178 Biomarker 0.01 disgenet
Dysraphism, Spinal FLT4 disease C0080178 Biomarker 0.01 disgenet
Dysraphism, Spinal VANGL1 disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal CSF2 disease C0080178 Biomarker 0.01 disgenet
Dysraphism, Spinal FOXN1 disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal TNIP1 disease C0080178 Biomarker 0.01 disgenet
Dysraphism, Spinal NAT2 disease C0080178 Biomarker 0.01 disgenet
Dysraphism, Spinal MTHFD2 disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal PRKCB disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal GCKR disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal HMOX1 disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal ZIC1 disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal GLI2 disease C0080178 AlteredExpression 0.01 disgenet
Dysraphism, Spinal FAP disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal NNMT disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal ALDH1A2 disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal UTS2R disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal CCDC88A disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal IL10 disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal UCP2 disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal MMP2 disease C0080178 Biomarker 0.01 disgenet
Dysraphism, Spinal HOXC@ disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal BHMT2 disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal CRABP2 disease C0080178 Biomarker 0.01 disgenet
Dysraphism, Spinal TGIF1 disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal GNAS disease C0080178 AlteredExpression 0.01 disgenet
Dysraphism, Spinal DVL1P1 disease C0080178 Biomarker 0.01 disgenet
Dysraphism, Spinal PRICKLE2 disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal CD38 disease C0080178 Biomarker 0.01 disgenet
Dysraphism, Spinal JARID2 disease C0080178 Biomarker 0.01 disgenet
Dysraphism, Spinal FOSB disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal IL13 disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal NGF disease C0080178 AlteredExpression 0.01 disgenet
Dysraphism, Spinal CASP8 disease C0080178 Biomarker 0.01 disgenet
Dysraphism, Spinal SLC5A11 disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal PKD2L1 disease C0080178 Biomarker 0.01 disgenet
Dysraphism, Spinal APAF1 disease C0080178 Biomarker 0.01 disgenet
Dysraphism, Spinal CD200 disease C0080178 Biomarker 0.01 disgenet
Dysraphism, Spinal FOS disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal GPR161 disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal DPP4 disease C0080178 AlteredExpression 0.01 disgenet
Dysraphism, Spinal SKI disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal FOLH1 disease C0080178 Biomarker 0.01 disgenet
Dysraphism, Spinal ISYNA1 disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal EPHA4 disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal MS disease C0080178 Biomarker 0.01 disgenet
Dysraphism, Spinal APEX1 disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal LEP disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal DVL3 disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal APOE disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal RN7SL263P disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal FGF3 disease C0080178 Biomarker 0.01 disgenet
Dysraphism, Spinal PRKCA disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal VSIR disease C0080178 Biomarker 0.01 disgenet
Dysraphism, Spinal ABCC2 disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal SLC2A1 disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal JUND disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal SOX3 disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal ANKEF1 disease C0080178 Biomarker 0.01 disgenet
Dysraphism, Spinal SARDH disease C0080178 Biomarker 0.01 disgenet
Dysraphism, Spinal APOB disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal FZD3 disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal NKX2-8 disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal TRIM26 disease C0080178 AlteredExpression 0.01 disgenet
Dysraphism, Spinal HLA-DRB4 disease C0080178 Biomarker 0.01 disgenet
Dysraphism, Spinal LMNB1 disease C0080178 AlteredExpression 0.01 disgenet
Dysraphism, Spinal LRP6 disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal CUBN disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal LAMC2 disease C0080178 Biomarker 0.01 disgenet
Dysraphism, Spinal BDNF disease C0080178 Biomarker 0.01 disgenet
Dysraphism, Spinal BMP4 disease C0080178 GeneticVariation 0.01 disgenet
Dysraphism, Spinal ABO disease C0080178 Biomarker 0.01 disgenet
Dysraphism, Spinal JUNB disease C0080178 GeneticVariation 0.01 disgenet
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