Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
ATR-X syndrome ATRX disease C1845055 Biomarker 1 orphanet , disgenet
ATR-X syndrome ATRX disease C1845055 GeneticVariation 1 orphanet , disgenet
ATR-X syndrome ATRX disease C1845055 CausalMutation 1 orphanet , disgenet
ATR-X syndrome ATRX disease C1845055 PosttranslationalModification 1 orphanet , disgenet
ATR-X syndrome ATRX disease C1845055 AlteredExpression 1 orphanet , disgenet
ATR-X syndrome ATR disease C1845055 Biomarker 0.1 disgenet
ATR-X syndrome DAXX disease C1845055 GeneticVariation 0.1 disgenet
ATR-X syndrome IDH1 disease C1845055 GeneticVariation 0.1 disgenet
ATR-X syndrome IDH1 disease C1845055 Biomarker 0.1 disgenet
ATR-X syndrome DAXX disease C1845055 Biomarker 0.1 disgenet
ATR-X syndrome DAXX disease C1845055 AlteredExpression 0.1 disgenet
ATR-X syndrome ATR disease C1845055 GeneticVariation 0.1 disgenet
ATR-X syndrome TP53 disease C1845055 Biomarker 0.09 disgenet
ATR-X syndrome TP53 disease C1845055 GeneticVariation 0.09 disgenet
ATR-X syndrome TP53 disease C1845055 AlteredExpression 0.09 disgenet
ATR-X syndrome MGMT disease C1845055 GeneticVariation 0.06 disgenet
ATR-X syndrome MGMT disease C1845055 PosttranslationalModification 0.06 disgenet
ATR-X syndrome MGMT disease C1845055 Biomarker 0.06 disgenet
ATR-X syndrome MGMT disease C1845055 AlteredExpression 0.06 disgenet
ATR-X syndrome SMARCA4 disease C1845055 GeneticVariation 0.05 disgenet
ATR-X syndrome SMARCA4 disease C1845055 Biomarker 0.05 disgenet
ATR-X syndrome TERT disease C1845055 Biomarker 0.05 disgenet
ATR-X syndrome SMARCA2 disease C1845055 Biomarker 0.05 disgenet
ATR-X syndrome TERT disease C1845055 GeneticVariation 0.05 disgenet
ATR-X syndrome SMARCA2 disease C1845055 GeneticVariation 0.05 disgenet
ATR-X syndrome EGFR disease C1845055 GeneticVariation 0.03 disgenet
ATR-X syndrome SMARCA1 disease C1845055 Biomarker 0.03 disgenet
ATR-X syndrome EGFR disease C1845055 AlteredExpression 0.03 disgenet
ATR-X syndrome EGFR disease C1845055 Biomarker 0.03 disgenet
ATR-X syndrome MED12 disease C1845055 GeneticVariation 0.02 disgenet
ATR-X syndrome MED12 disease C1845055 Biomarker 0.02 disgenet
ATR-X syndrome MECP2 disease C1845055 GeneticVariation 0.02 disgenet
ATR-X syndrome MECP2 disease C1845055 Biomarker 0.02 disgenet
ATR-X syndrome DSC3 disease C1845055 GeneticVariation 0.01 disgenet
ATR-X syndrome CD274 disease C1845055 GeneticVariation 0.01 disgenet
ATR-X syndrome CD34 disease C1845055 AlteredExpression 0.01 disgenet
ATR-X syndrome SRY disease C1845055 Biomarker 0.01 disgenet
ATR-X syndrome PHOX2B disease C1845055 GeneticVariation 0.01 disgenet
ATR-X syndrome GFAP disease C1845055 GeneticVariation 0.01 disgenet
ATR-X syndrome CHGA disease C1845055 Biomarker 0.01 disgenet
ATR-X syndrome ALK disease C1845055 GeneticVariation 0.01 disgenet
ATR-X syndrome IDH2 disease C1845055 GeneticVariation 0.01 disgenet
ATR-X syndrome TERC disease C1845055 AlteredExpression 0.01 disgenet
ATR-X syndrome CDX2 disease C1845055 Biomarker 0.01 disgenet
ATR-X syndrome ARHGAP26 disease C1845055 AlteredExpression 0.01 disgenet
ATR-X syndrome MBD2 disease C1845055 Biomarker 0.01 disgenet
ATR-X syndrome MEN1 disease C1845055 GeneticVariation 0.01 disgenet
ATR-X syndrome IFNB1 disease C1845055 GeneticVariation 0.01 disgenet
ATR-X syndrome SIGMAR1 disease C1845055 AlteredExpression 0.01 disgenet
ATR-X syndrome MAGT1 disease C1845055 GeneticVariation 0.01 disgenet
ATR-X syndrome MRE11 disease C1845055 Biomarker 0.01 disgenet
ATR-X syndrome HIF1A disease C1845055 Biomarker 0.01 disgenet
ATR-X syndrome H3-3B disease C1845055 GeneticVariation 0.01 disgenet
ATR-X syndrome H3-3A disease C1845055 GeneticVariation 0.01 disgenet
ATR-X syndrome PTEN disease C1845055 GeneticVariation 0.01 disgenet
ATR-X syndrome PML disease C1845055 Biomarker 0.01 disgenet
ATR-X syndrome LOC110806263 disease C1845055 GeneticVariation 0.01 disgenet
ATR-X syndrome MTOR disease C1845055 Biomarker 0.01 disgenet
ATR-X syndrome OLIG2 disease C1845055 GeneticVariation 0.01 disgenet
ATR-X syndrome CIC disease C1845055 GeneticVariation 0.01 disgenet
ATR-X syndrome KDM3A disease C1845055 Biomarker 0.01 disgenet
ATR-X syndrome TH disease C1845055 Biomarker 0.01 disgenet
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