Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Fragile X Tremor Ataxia Syndrome FMR1 disease C1839780 AlteredExpression 0.9 orphanet , disgenet
Fragile X Tremor Ataxia Syndrome FMR1 disease C1839780 Biomarker 0.9 orphanet , disgenet
Fragile X Tremor Ataxia Syndrome FMR1 disease C1839780 GeneticVariation 0.9 orphanet , disgenet
Fragile X Tremor Ataxia Syndrome FMR1 disease C1839780 GermlineCausalMutation 0.9 orphanet , disgenet
Fragile X Tremor Ataxia Syndrome C9orf72 disease C1839780 GeneticVariation 0.08 disgenet
Fragile X Tremor Ataxia Syndrome C9orf72 disease C1839780 Biomarker 0.08 disgenet
Fragile X Tremor Ataxia Syndrome FXN disease C1839780 Biomarker 0.04 disgenet
Fragile X Tremor Ataxia Syndrome RAN disease C1839780 Biomarker 0.04 disgenet
Fragile X Tremor Ataxia Syndrome IL13 disease C1839780 Biomarker 0.02 disgenet
Fragile X Tremor Ataxia Syndrome IGFALS disease C1839780 Biomarker 0.02 disgenet
Fragile X Tremor Ataxia Syndrome IGFALS disease C1839780 GeneticVariation 0.02 disgenet
Fragile X Tremor Ataxia Syndrome IL13 disease C1839780 GeneticVariation 0.02 disgenet
Fragile X Tremor Ataxia Syndrome UBR4 disease C1839780 GeneticVariation 0.02 disgenet
Fragile X Tremor Ataxia Syndrome TARDBP disease C1839780 Biomarker 0.02 disgenet
Fragile X Tremor Ataxia Syndrome KHDRBS1 disease C1839780 Biomarker 0.02 disgenet
Fragile X Tremor Ataxia Syndrome SOD1 disease C1839780 GeneticVariation 0.02 disgenet
Fragile X Tremor Ataxia Syndrome SOD1 disease C1839780 Biomarker 0.02 disgenet
Fragile X Tremor Ataxia Syndrome FMR1-AS1 disease C1839780 GeneticVariation 0.02 disgenet
Fragile X Tremor Ataxia Syndrome TARDBP disease C1839780 AlteredExpression 0.02 disgenet
Fragile X Tremor Ataxia Syndrome UBR4 disease C1839780 Biomarker 0.02 disgenet
Fragile X Tremor Ataxia Syndrome FMR1-AS1 disease C1839780 AlteredExpression 0.02 disgenet
Fragile X Tremor Ataxia Syndrome LMNA disease C1839780 Biomarker 0.01 disgenet
Fragile X Tremor Ataxia Syndrome MIR424 disease C1839780 Biomarker 0.01 disgenet
Fragile X Tremor Ataxia Syndrome NOP56 disease C1839780 Biomarker 0.01 disgenet
Fragile X Tremor Ataxia Syndrome UBQLN2 disease C1839780 Biomarker 0.01 disgenet
Fragile X Tremor Ataxia Syndrome NUFIP2 disease C1839780 GeneticVariation 0.01 disgenet
Fragile X Tremor Ataxia Syndrome DIP2B disease C1839780 AlteredExpression 0.01 disgenet
Fragile X Tremor Ataxia Syndrome APOE disease C1839780 GeneticVariation 0.01 disgenet
Fragile X Tremor Ataxia Syndrome SGCA disease C1839780 Biomarker 0.01 disgenet
Fragile X Tremor Ataxia Syndrome CDK5 disease C1839780 Biomarker 0.01 disgenet
Fragile X Tremor Ataxia Syndrome YWHAZ disease C1839780 GeneticVariation 0.01 disgenet
Fragile X Tremor Ataxia Syndrome IL10 disease C1839780 Biomarker 0.01 disgenet
Fragile X Tremor Ataxia Syndrome DGCR8 disease C1839780 Biomarker 0.01 disgenet
Fragile X Tremor Ataxia Syndrome SQSTM1 disease C1839780 Biomarker 0.01 disgenet
Fragile X Tremor Ataxia Syndrome HDAC3 disease C1839780 Biomarker 0.01 disgenet
Fragile X Tremor Ataxia Syndrome FANCD2 disease C1839780 AlteredExpression 0.01 disgenet
Fragile X Tremor Ataxia Syndrome PSEN1 disease C1839780 AlteredExpression 0.01 disgenet
Fragile X Tremor Ataxia Syndrome EXOSC7 disease C1839780 AlteredExpression 0.01 disgenet
Fragile X Tremor Ataxia Syndrome RBMS3 disease C1839780 Biomarker 0.01 disgenet
Fragile X Tremor Ataxia Syndrome MAK16 disease C1839780 Biomarker 0.01 disgenet
Fragile X Tremor Ataxia Syndrome PLA2G1B disease C1839780 Biomarker 0.01 disgenet
Fragile X Tremor Ataxia Syndrome DCTN4 disease C1839780 Biomarker 0.01 disgenet
Fragile X Tremor Ataxia Syndrome TK2 disease C1839780 Biomarker 0.01 disgenet
Fragile X Tremor Ataxia Syndrome BRCA2 disease C1839780 AlteredExpression 0.01 disgenet
Fragile X Tremor Ataxia Syndrome GRM5 disease C1839780 AlteredExpression 0.01 disgenet
Fragile X Tremor Ataxia Syndrome ATXN10 disease C1839780 Biomarker 0.01 disgenet
Fragile X Tremor Ataxia Syndrome PLA2G2A disease C1839780 Biomarker 0.01 disgenet
Fragile X Tremor Ataxia Syndrome PTBP1 disease C1839780 Biomarker 0.01 disgenet
Fragile X Tremor Ataxia Syndrome RAD23A disease C1839780 Biomarker 0.01 disgenet
Fragile X Tremor Ataxia Syndrome PNO1 disease C1839780 Biomarker 0.01 disgenet
Fragile X Tremor Ataxia Syndrome DROSHA disease C1839780 Biomarker 0.01 disgenet
Fragile X Tremor Ataxia Syndrome IGF2R disease C1839780 Biomarker 0.01 disgenet
Fragile X Tremor Ataxia Syndrome BEAN1 disease C1839780 Biomarker 0.01 disgenet
Fragile X Tremor Ataxia Syndrome GTF2H1 disease C1839780 Biomarker 0.01 disgenet
Fragile X Tremor Ataxia Syndrome IRF2BPL disease C1839780 AlteredExpression 0.01 disgenet
Fragile X Tremor Ataxia Syndrome TRA2A disease C1839780 Biomarker 0.01 disgenet
Fragile X Tremor Ataxia Syndrome NUP62 disease C1839780 Biomarker 0.01 disgenet
Fragile X Tremor Ataxia Syndrome VIM disease C1839780 Biomarker 0.01 disgenet
Fragile X Tremor Ataxia Syndrome DAXX disease C1839780 AlteredExpression 0.01 disgenet
Fragile X Tremor Ataxia Syndrome PLB1 disease C1839780 GeneticVariation 0.01 disgenet
Fragile X Tremor Ataxia Syndrome PLA2G6 disease C1839780 Biomarker 0.01 disgenet
Fragile X Tremor Ataxia Syndrome PPP2R2B disease C1839780 Biomarker 0.01 disgenet
Fragile X Tremor Ataxia Syndrome PTTG1 disease C1839780 AlteredExpression 0.01 disgenet
Fragile X Tremor Ataxia Syndrome SLC1A3 disease C1839780 AlteredExpression 0.01 disgenet
Fragile X Tremor Ataxia Syndrome MIR574 disease C1839780 Biomarker 0.01 disgenet
Fragile X Tremor Ataxia Syndrome RAD23B disease C1839780 Biomarker 0.01 disgenet
Fragile X Tremor Ataxia Syndrome MTOR disease C1839780 Biomarker 0.01 disgenet
Fragile X Tremor Ataxia Syndrome DOCK11 disease C1839780 Biomarker 0.01 disgenet
Fragile X Tremor Ataxia Syndrome SRRM2 disease C1839780 Biomarker 0.01 disgenet
Fragile X Tremor Ataxia Syndrome ASPSCR1 disease C1839780 Biomarker 0.01 disgenet
Fragile X Tremor Ataxia Syndrome MIR221 disease C1839780 AlteredExpression 0.01 disgenet
Fragile X Tremor Ataxia Syndrome ATM disease C1839780 Biomarker 0.01 disgenet
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