Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Angelman Syndrome UBE3A disease C0162635 Biomarker 1 orphanet , disgenet
Angelman Syndrome UBE3A disease C0162635 CausalMutation 1 orphanet , disgenet
Angelman Syndrome UBE3A disease C0162635 PosttranslationalModification 1 orphanet , disgenet
Angelman Syndrome UBE3A disease C0162635 GeneticVariation 1 orphanet , disgenet
Angelman Syndrome UBE3A disease C0162635 AlteredExpression 1 orphanet , disgenet
Angelman Syndrome CDKL5 disease C0162635 GeneticVariation 0.52 disgenet
Angelman Syndrome CDKL5 disease C0162635 Biomarker 0.52 disgenet
Angelman Syndrome MECP2 disease C0162635 GeneticVariation 0.5 disgenet
Angelman Syndrome MECP2 disease C0162635 AlteredExpression 0.5 disgenet
Angelman Syndrome MECP2 disease C0162635 Biomarker 0.5 disgenet
Angelman Syndrome MECP2 disease C0162635 CausalMutation 0.5 disgenet
Angelman Syndrome GABRB3 disease C0162635 AlteredExpression 0.4 disgenet
Angelman Syndrome GABRB3 disease C0162635 GeneticVariation 0.4 disgenet
Angelman Syndrome GABRB3 disease C0162635 Biomarker 0.4 disgenet
Angelman Syndrome SNRPN disease C0162635 PosttranslationalModification 0.3 orphanet , disgenet
Angelman Syndrome SNRPN disease C0162635 AlteredExpression 0.3 orphanet , disgenet
Angelman Syndrome SNRPN disease C0162635 GeneticVariation 0.3 orphanet , disgenet
Angelman Syndrome SNRPN disease C0162635 Biomarker 0.3 orphanet , disgenet
Angelman Syndrome SNHG14 disease C0162635 AlteredExpression 0.17 disgenet
Angelman Syndrome SNHG14 disease C0162635 Biomarker 0.17 disgenet
Angelman Syndrome SNHG14 disease C0162635 GeneticVariation 0.17 disgenet
Angelman Syndrome SNHG14 disease C0162635 CausalMutation 0.17 disgenet
Angelman Syndrome SNHG14 disease C0162635 PosttranslationalModification 0.17 disgenet
Angelman Syndrome CBLL2 disease C0162635 GeneticVariation 0.1 disgenet
Angelman Syndrome CBLL2 disease C0162635 Biomarker 0.1 disgenet
Angelman Syndrome CBLL2 disease C0162635 AlteredExpression 0.1 disgenet
Angelman Syndrome MUL1 disease C0162635 Biomarker 0.1 disgenet
Angelman Syndrome UBE2K disease C0162635 AlteredExpression 0.1 disgenet
Angelman Syndrome MUL1 disease C0162635 GeneticVariation 0.1 disgenet
Angelman Syndrome ASXL3 disease C0162635 CausalMutation 0.1 disgenet
Angelman Syndrome PRKN disease C0162635 GeneticVariation 0.1 disgenet
Angelman Syndrome UBE2K disease C0162635 Biomarker 0.1 disgenet
Angelman Syndrome UBE2K disease C0162635 GeneticVariation 0.1 disgenet
Angelman Syndrome SLC6A1 disease C0162635 CausalMutation 0.1 disgenet
Angelman Syndrome MUL1 disease C0162635 AlteredExpression 0.1 disgenet
Angelman Syndrome PRKN disease C0162635 AlteredExpression 0.1 disgenet
Angelman Syndrome KCNQ3 disease C0162635 CausalMutation 0.1 disgenet
Angelman Syndrome PRKN disease C0162635 Biomarker 0.1 disgenet
Angelman Syndrome SYNGAP1 disease C0162635 CausalMutation 0.1 disgenet
Angelman Syndrome SNURF disease C0162635 GeneticVariation 0.08 disgenet
Angelman Syndrome SNURF disease C0162635 PosttranslationalModification 0.08 disgenet
Angelman Syndrome SNURF disease C0162635 Biomarker 0.08 disgenet
Angelman Syndrome SNURF disease C0162635 AlteredExpression 0.08 disgenet
Angelman Syndrome OCA2 disease C0162635 GeneticVariation 0.07 orphanet , disgenet
Angelman Syndrome OCA2 disease C0162635 Biomarker 0.07 orphanet , disgenet
Angelman Syndrome MKRN3 disease C0162635 GeneticVariation 0.06 disgenet
Angelman Syndrome SLC9A6 disease C0162635 GeneticVariation 0.05 disgenet
Angelman Syndrome SLC9A6 disease C0162635 Biomarker 0.05 disgenet
Angelman Syndrome PRNP disease C0162635 Biomarker 0.04 disgenet
Angelman Syndrome GABRG3 disease C0162635 GeneticVariation 0.03 disgenet
Angelman Syndrome TCF4 disease C0162635 Biomarker 0.03 disgenet
Angelman Syndrome HERC2 disease C0162635 Biomarker 0.03 disgenet
Angelman Syndrome TCF4 disease C0162635 GeneticVariation 0.03 disgenet
Angelman Syndrome HERC2 disease C0162635 GeneticVariation 0.03 disgenet
Angelman Syndrome SNORD116@ disease C0162635 GeneticVariation 0.03 disgenet
Angelman Syndrome SNORD116@ disease C0162635 Biomarker 0.03 disgenet
Angelman Syndrome GABRG3 disease C0162635 Biomarker 0.03 disgenet
Angelman Syndrome HTC2 disease C0162635 Biomarker 0.02 disgenet
Angelman Syndrome RNF2 disease C0162635 Biomarker 0.02 disgenet
Angelman Syndrome RNF2 disease C0162635 AlteredExpression 0.02 disgenet
Angelman Syndrome HTC2 disease C0162635 GeneticVariation 0.02 disgenet
Angelman Syndrome MC1R disease C0162635 AlteredExpression 0.02 disgenet
Angelman Syndrome NIPA1 disease C0162635 Biomarker 0.02 disgenet
Angelman Syndrome HDAC1 disease C0162635 Biomarker 0.02 disgenet
Angelman Syndrome STOML3 disease C0162635 Biomarker 0.02 disgenet
Angelman Syndrome DYRK1A disease C0162635 Biomarker 0.02 disgenet
Angelman Syndrome GABRA5 disease C0162635 Biomarker 0.02 disgenet
Angelman Syndrome PVALB disease C0162635 Biomarker 0.02 disgenet
Angelman Syndrome NIPA1 disease C0162635 GeneticVariation 0.02 disgenet
Angelman Syndrome ATP10A disease C0162635 GeneticVariation 0.02 orphanet , disgenet
Angelman Syndrome UROD disease C0162635 Biomarker 0.02 disgenet
Angelman Syndrome UROD disease C0162635 GeneticVariation 0.02 disgenet
Angelman Syndrome DYRK1A disease C0162635 GeneticVariation 0.02 disgenet
Angelman Syndrome ATP10A disease C0162635 AlteredExpression 0.02 orphanet , disgenet
Angelman Syndrome BDNF disease C0162635 AlteredExpression 0.02 disgenet
Angelman Syndrome ZNF197 disease C0162635 Biomarker 0.01 disgenet
Angelman Syndrome LMLN disease C0162635 Biomarker 0.01 disgenet
Angelman Syndrome MTHFR disease C0162635 GeneticVariation 0.01 disgenet
Angelman Syndrome CYP11A1 disease C0162635 GeneticVariation 0.01 disgenet
Angelman Syndrome CDKN2C disease C0162635 Biomarker 0.01 disgenet
Angelman Syndrome HTR1A disease C0162635 Biomarker 0.01 disgenet
Angelman Syndrome HDAC2 disease C0162635 Biomarker 0.01 disgenet
Angelman Syndrome MSMB disease C0162635 Biomarker 0.01 disgenet
Angelman Syndrome ERBB4 disease C0162635 AlteredExpression 0.01 disgenet
Angelman Syndrome FMR1 disease C0162635 Biomarker 0.01 disgenet
Angelman Syndrome CREBBP disease C0162635 GeneticVariation 0.01 disgenet
Angelman Syndrome DERL1 disease C0162635 GeneticVariation 0.01 disgenet
Angelman Syndrome SLC5A7 disease C0162635 Biomarker 0.01 disgenet
Angelman Syndrome CFL1 disease C0162635 Biomarker 0.01 disgenet
Angelman Syndrome PAFAH1B1 disease C0162635 GeneticVariation 0.01 disgenet
Angelman Syndrome ACTB disease C0162635 Biomarker 0.01 disgenet
Angelman Syndrome SLC6A3 disease C0162635 Biomarker 0.01 disgenet
Angelman Syndrome TJP1 disease C0162635 Biomarker 0.01 disgenet
Angelman Syndrome LAMTOR1 disease C0162635 Biomarker 0.01 disgenet
Angelman Syndrome APP disease C0162635 AlteredExpression 0.01 disgenet
Angelman Syndrome TUBGCP5 disease C0162635 Biomarker 0.01 disgenet
Angelman Syndrome ATRAID disease C0162635 Biomarker 0.01 disgenet
Angelman Syndrome H3P12 disease C0162635 Biomarker 0.01 disgenet
Angelman Syndrome MIR708 disease C0162635 Biomarker 0.01 disgenet
Angelman Syndrome HERC1 disease C0162635 GeneticVariation 0.01 disgenet
Angelman Syndrome DBI disease C0162635 AlteredExpression 0.01 disgenet
Angelman Syndrome CASK disease C0162635 GeneticVariation 0.01 disgenet
Angelman Syndrome NNAT disease C0162635 Biomarker 0.01 disgenet
Angelman Syndrome TP53 disease C0162635 GeneticVariation 0.01 disgenet
Angelman Syndrome CAMK2A disease C0162635 Biomarker 0.01 disgenet
Angelman Syndrome NPAS3 disease C0162635 Biomarker 0.01 disgenet
Angelman Syndrome NPAP1 disease C0162635 AlteredExpression 0.01 disgenet
Angelman Syndrome UBE2I disease C0162635 Biomarker 0.01 disgenet
Angelman Syndrome PSMD4 disease C0162635 GeneticVariation 0.01 disgenet
Angelman Syndrome TMPRSS13 disease C0162635 Biomarker 0.01 disgenet
Angelman Syndrome HDAC9 disease C0162635 Biomarker 0.01 disgenet
Angelman Syndrome SCG5 disease C0162635 GeneticVariation 0.01 disgenet
Angelman Syndrome MAFK disease C0162635 Biomarker 0.01 disgenet
Angelman Syndrome NR4A2 disease C0162635 Biomarker 0.01 disgenet
Angelman Syndrome COPS2 disease C0162635 Biomarker 0.01 disgenet
Angelman Syndrome MST1 disease C0162635 Biomarker 0.01 disgenet
Angelman Syndrome EEF1E1 disease C0162635 Biomarker 0.01 disgenet
Angelman Syndrome ATP8A1 disease C0162635 GeneticVariation 0.01 disgenet
Angelman Syndrome CYFIP1 disease C0162635 Biomarker 0.01 disgenet
Angelman Syndrome ESR1 disease C0162635 Biomarker 0.01 disgenet
Angelman Syndrome EPHA6 disease C0162635 Biomarker 0.01 disgenet
Angelman Syndrome TOP1 disease C0162635 Biomarker 0.01 disgenet
Angelman Syndrome NDN disease C0162635 Biomarker 0.01 disgenet
Angelman Syndrome FOXG1 disease C0162635 GeneticVariation 0.01 disgenet
Angelman Syndrome EP300 disease C0162635 GeneticVariation 0.01 disgenet
Angelman Syndrome DYM disease C0162635 GeneticVariation 0.01 disgenet
Angelman Syndrome MEF2C disease C0162635 Biomarker 0.01 disgenet
Angelman Syndrome TPPP2 disease C0162635 Biomarker 0.01 disgenet
Angelman Syndrome DDI1 disease C0162635 Biomarker 0.01 disgenet
Angelman Syndrome NIPA2 disease C0162635 GeneticVariation 0.01 disgenet
Angelman Syndrome HAP1 disease C0162635 Biomarker 0.01 disgenet
Angelman Syndrome ASPM disease C0162635 Biomarker 0.01 disgenet
Angelman Syndrome CYP26B1 disease C0162635 AlteredExpression 0.01 disgenet
Angelman Syndrome DNAH8 disease C0162635 Biomarker 0.01 disgenet
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