Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Rett Syndrome MECP2 disease C0035372 AlteredExpression 1 orphanet , disgenet
Rett Syndrome MECP2 disease C0035372 PosttranslationalModification 1 orphanet , disgenet
Rett Syndrome MECP2 disease C0035372 Biomarker 1 orphanet , disgenet
Rett Syndrome MECP2 disease C0035372 CausalMutation 1 orphanet , disgenet
Rett Syndrome MECP2 disease C0035372 GeneticVariation 1 orphanet , disgenet
Rett Syndrome CDKL5 disease C0035372 GeneticVariation 0.5 disgenet
Rett Syndrome CDKL5 disease C0035372 CausalMutation 0.5 disgenet
Rett Syndrome CDKL5 disease C0035372 AlteredExpression 0.5 disgenet
Rett Syndrome CDKL5 disease C0035372 Biomarker 0.5 disgenet
Rett Syndrome GABBR2 disease C0035372 Biomarker 0.41 disgenet
Rett Syndrome GABBR2 disease C0035372 CausalMutation 0.41 disgenet
Rett Syndrome EGR2 disease C0035372 Biomarker 0.31 disgenet
Rett Syndrome EGR2 disease C0035372 AlteredExpression 0.31 disgenet
Rett Syndrome PTPN1 disease C0035372 Biomarker 0.3 disgenet
Rett Syndrome FOXG1 disease C0035372 Biomarker 0.3 disgenet
Rett Syndrome FOXG1 disease C0035372 GeneticVariation 0.3 disgenet
Rett Syndrome BDNF disease C0035372 Biomarker 0.1 disgenet
Rett Syndrome CXXC1 disease C0035372 GeneticVariation 0.1 disgenet
Rett Syndrome BDNF disease C0035372 GeneticVariation 0.1 disgenet
Rett Syndrome BDNF disease C0035372 AlteredExpression 0.1 disgenet
Rett Syndrome CREBBP disease C0035372 GeneticVariation 0.1 disgenet
Rett Syndrome CREBBP disease C0035372 Biomarker 0.1 disgenet
Rett Syndrome CREBBP disease C0035372 AlteredExpression 0.1 disgenet
Rett Syndrome RHOBTB2 disease C0035372 GeneticVariation 0.1 disgenet
Rett Syndrome EIF4E disease C0035372 GeneticVariation 0.08 disgenet
Rett Syndrome OPN1LW disease C0035372 GeneticVariation 0.08 disgenet
Rett Syndrome EIF4E disease C0035372 Biomarker 0.08 disgenet
Rett Syndrome OPN1LW disease C0035372 Biomarker 0.08 disgenet
Rett Syndrome PCBP4 disease C0035372 Biomarker 0.08 disgenet
Rett Syndrome PAG1 disease C0035372 GeneticVariation 0.08 disgenet
Rett Syndrome PCBP4 disease C0035372 GeneticVariation 0.08 disgenet
Rett Syndrome PAG1 disease C0035372 Biomarker 0.08 disgenet
Rett Syndrome DLX5 disease C0035372 Biomarker 0.06 disgenet
Rett Syndrome DLX5 disease C0035372 GeneticVariation 0.06 disgenet
Rett Syndrome DLX5 disease C0035372 AlteredExpression 0.06 disgenet
Rett Syndrome IGF1 disease C0035372 Biomarker 0.05 disgenet
Rett Syndrome SLC12A5 disease C0035372 Biomarker 0.04 disgenet
Rett Syndrome SYN1 disease C0035372 GeneticVariation 0.04 disgenet
Rett Syndrome NTNG1 disease C0035372 Biomarker 0.04 disgenet
Rett Syndrome SYN1 disease C0035372 AlteredExpression 0.04 disgenet
Rett Syndrome NTNG2 disease C0035372 GeneticVariation 0.04 disgenet
Rett Syndrome SLC12A5 disease C0035372 GeneticVariation 0.04 disgenet
Rett Syndrome CREB1 disease C0035372 AlteredExpression 0.04 disgenet
Rett Syndrome SYN1 disease C0035372 Biomarker 0.04 disgenet
Rett Syndrome NTNG1 disease C0035372 AlteredExpression 0.04 disgenet
Rett Syndrome NTNG2 disease C0035372 Biomarker 0.04 disgenet
Rett Syndrome NTNG1 disease C0035372 GeneticVariation 0.04 disgenet
Rett Syndrome CREB1 disease C0035372 Biomarker 0.04 disgenet
Rett Syndrome MEF2C disease C0035372 GeneticVariation 0.03 disgenet
Rett Syndrome FXYD1 disease C0035372 Biomarker 0.03 disgenet
Rett Syndrome UBE3A disease C0035372 Biomarker 0.03 disgenet
Rett Syndrome RECQL4 disease C0035372 GeneticVariation 0.03 disgenet
Rett Syndrome IL1B disease C0035372 AlteredExpression 0.03 disgenet
Rett Syndrome TH disease C0035372 AlteredExpression 0.03 disgenet
Rett Syndrome TH disease C0035372 Biomarker 0.03 disgenet
Rett Syndrome UBE3A disease C0035372 AlteredExpression 0.03 disgenet
Rett Syndrome EP300 disease C0035372 GeneticVariation 0.03 disgenet
Rett Syndrome EP300 disease C0035372 Biomarker 0.03 disgenet
Rett Syndrome WDR45 disease C0035372 GeneticVariation 0.02 disgenet
Rett Syndrome MBD2 disease C0035372 GeneticVariation 0.02 disgenet
Rett Syndrome SLC12A2 disease C0035372 GeneticVariation 0.02 disgenet
Rett Syndrome SLC12A2 disease C0035372 Biomarker 0.02 disgenet
Rett Syndrome CAT disease C0035372 AlteredExpression 0.02 disgenet
Rett Syndrome CHRNA7 disease C0035372 AlteredExpression 0.02 disgenet
Rett Syndrome HDAC6 disease C0035372 Biomarker 0.02 disgenet
Rett Syndrome STXBP1 disease C0035372 Biomarker 0.02 disgenet
Rett Syndrome MBD2 disease C0035372 Biomarker 0.02 disgenet
Rett Syndrome HDAC8 disease C0035372 Biomarker 0.02 disgenet
Rett Syndrome WDR45 disease C0035372 Biomarker 0.02 disgenet
Rett Syndrome CAT disease C0035372 Biomarker 0.02 disgenet
Rett Syndrome IGFBP3 disease C0035372 Biomarker 0.02 disgenet
Rett Syndrome CHRNA7 disease C0035372 GeneticVariation 0.02 disgenet
Rett Syndrome SCARB1 disease C0035372 Biomarker 0.02 disgenet
Rett Syndrome SCN1A disease C0035372 GeneticVariation 0.02 disgenet
Rett Syndrome TET1 disease C0035372 Biomarker 0.02 disgenet
Rett Syndrome AKT1 disease C0035372 Biomarker 0.02 disgenet
Rett Syndrome SHANK3 disease C0035372 Biomarker 0.02 disgenet
Rett Syndrome MBD1 disease C0035372 Biomarker 0.02 disgenet
Rett Syndrome RUNX2 disease C0035372 GeneticVariation 0.02 disgenet
Rett Syndrome RUNX2 disease C0035372 Biomarker 0.02 disgenet
Rett Syndrome MBD1 disease C0035372 AlteredExpression 0.02 disgenet
Rett Syndrome TUBA1B disease C0035372 Biomarker 0.02 disgenet
Rett Syndrome TAC1 disease C0035372 AlteredExpression 0.02 disgenet
Rett Syndrome HDAC8 disease C0035372 GeneticVariation 0.02 disgenet
Rett Syndrome STXBP1 disease C0035372 GeneticVariation 0.02 disgenet
Rett Syndrome ELANE disease C0035372 Biomarker 0.02 disgenet
Rett Syndrome SHANK3 disease C0035372 GeneticVariation 0.02 disgenet
Rett Syndrome POMC disease C0035372 Biomarker 0.02 disgenet
Rett Syndrome IGFBP3 disease C0035372 AlteredExpression 0.02 disgenet
Rett Syndrome LEP disease C0035372 AlteredExpression 0.02 disgenet
Rett Syndrome SCN1A disease C0035372 Biomarker 0.02 disgenet
Rett Syndrome ID4 disease C0035372 AlteredExpression 0.01 disgenet
Rett Syndrome VIP disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome DLX6 disease C0035372 AlteredExpression 0.01 disgenet
Rett Syndrome AGER disease C0035372 AlteredExpression 0.01 disgenet
Rett Syndrome MED19 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome EPM2A disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome GABBR1 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome GLUD1 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome KIF1A disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome STAR disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome TMPRSS11D disease C0035372 AlteredExpression 0.01 disgenet
Rett Syndrome SOX3 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome IL9 disease C0035372 AlteredExpression 0.01 disgenet
Rett Syndrome L1CAM disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome JMJD1C disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome IGF1R disease C0035372 AlteredExpression 0.01 disgenet
Rett Syndrome CLU disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome PCDHB1 disease C0035372 AlteredExpression 0.01 disgenet
Rett Syndrome VAMP7 disease C0035372 PosttranslationalModification 0.01 disgenet
Rett Syndrome NCL disease C0035372 AlteredExpression 0.01 disgenet
Rett Syndrome GRIA2 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome GPM6B disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome POTEF disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome STX5 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome H4-16 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome SRI disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome H4C1 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome DCTN3 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome CTCF disease C0035372 AlteredExpression 0.01 disgenet
Rett Syndrome ID1 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome UBE2V1 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome IQSEC2 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome CASK disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome MEG3 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome ZNF763 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome ID4 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome FUBP1 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome ACTB disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome PHB2 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome GDI2P1 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome H4C13 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome STMN1 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome FBP2 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome TMEM189 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome HDAC2 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome PSEN2 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome GLRA3 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome KCNB1 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome C1QB disease C0035372 AlteredExpression 0.01 disgenet
Rett Syndrome FOLR2 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome UBE2I disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome MIR146A disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome TBL1XR1 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome DYNC1H1 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome ZNF253 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome PRPF6 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome MED18 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome RREB1 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome PAFAH1B1 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome GABRD disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome H4C9 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome CDR2 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome DDX53 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome SIRT2 disease C0035372 AlteredExpression 0.01 disgenet
Rett Syndrome TRAF6 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome ARX disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome ADARB1 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome ECB2 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome ALDH5A1 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome GDI2 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome PLXNA2 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome CXCL8 disease C0035372 AlteredExpression 0.01 disgenet
Rett Syndrome MT1A disease C0035372 AlteredExpression 0.01 disgenet
Rett Syndrome NCOR2 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome COX1 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome FBP1 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome ZNF569 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome APOE disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome FOLR1 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome ID3 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome SOD1 disease C0035372 AlteredExpression 0.01 disgenet
Rett Syndrome TCF4 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome H4C5 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome FMR1 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome ABR disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome NOS2 disease C0035372 AlteredExpression 0.01 disgenet
Rett Syndrome PRPF40A disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome MAP2 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome GH1 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome SRY disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome BLM disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome FGF4 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome SLC25A4 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome BCL2 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome EDN2 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome PCDH19 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome MBD5 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome NFKB1 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome HOOK1 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome GRM5 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome HAGH disease C0035372 AlteredExpression 0.01 disgenet
Rett Syndrome H4C12 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome DNM1 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome CHAT disease C0035372 AlteredExpression 0.01 disgenet
Rett Syndrome HTR7 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome GYPE disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome SLC6A8 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome PTH disease C0035372 AlteredExpression 0.01 disgenet
Rett Syndrome ST3GAL5 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome IL1A disease C0035372 AlteredExpression 0.01 disgenet
Rett Syndrome KCNA2 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome ARSD disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome GATA4 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome CSTB disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome IL4 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome ALB disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome MTOR disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome GDI1 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome LDLR disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome H4C14 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome SMC1A disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome C1QC disease C0035372 AlteredExpression 0.01 disgenet
Rett Syndrome TAZ disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome REM1 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome PER2 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome GABRB3 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome EOS disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome PCDH7 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome ID2 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome ZBTB18 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome H4C8 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome GLRA2 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome ATRX disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome TMEM189-UBE2V1 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome RAB14 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome ENO2 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome UBA1 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome SLC18A3 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome GRIN1 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome H4C3 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome SMN1 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome ADIPOQ disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome GABRA3 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome PDE4A disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome H4C6 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome TTR disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome GSK3B disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome ZNF629 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome GLUD2 disease C0035372 AlteredExpression 0.01 disgenet
Rett Syndrome GFAP disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome HTC2 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome NDN disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome GRIN2B disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome MALAT1 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome GSR disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome C1QA disease C0035372 AlteredExpression 0.01 disgenet
Rett Syndrome AMACR disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome WRN disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome XRCC1 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome PDK1 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome MET disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome HOXA1 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome LBR disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome H4C11 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome H4C4 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome FGF2 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome HPRT1 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome MOK disease C0035372 AlteredExpression 0.01 disgenet
Rett Syndrome VEGFA disease C0035372 AlteredExpression 0.01 disgenet
Rett Syndrome SYT6 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome IL10 disease C0035372 AlteredExpression 0.01 disgenet
Rett Syndrome GPR55 disease C0035372 AlteredExpression 0.01 disgenet
Rett Syndrome IGF2 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome GRM7 disease C0035372 AlteredExpression 0.01 disgenet
Rett Syndrome DNMT1 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome H4C15 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome ALOX15 disease C0035372 AlteredExpression 0.01 disgenet
Rett Syndrome NUP98 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome IL15 disease C0035372 AlteredExpression 0.01 disgenet
Rett Syndrome ZNF436 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome IRAK1 disease C0035372 AlteredExpression 0.01 disgenet
Rett Syndrome FOXG1-AS1 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome PTPN4 disease C0035372 Biomarker 0.01 disgenet
Rett Syndrome H4C2 disease C0035372 GeneticVariation 0.01 disgenet
Rett Syndrome IL13 disease C0035372 AlteredExpression 0.01 disgenet
Rett Syndrome CHP1 disease C0035372 Biomarker 0.01 disgenet
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