Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Rothmund Thomson Syndrome RECQL4 disease C0032339 CausalMutation 1 orphanet , disgenet
Rothmund Thomson Syndrome RECQL4 disease C0032339 AlteredExpression 1 orphanet , disgenet
Rothmund Thomson Syndrome RECQL4 disease C0032339 Biomarker 1 orphanet , disgenet
Rothmund Thomson Syndrome RECQL4 disease C0032339 GeneticVariation 1 orphanet , disgenet
Rothmund Thomson Syndrome SLURP1 disease C0032339 Biomarker 0.2 disgenet
Rothmund Thomson Syndrome CREBBP disease C0032339 GeneticVariation 0.1 disgenet
Rothmund Thomson Syndrome CREBBP disease C0032339 AlteredExpression 0.1 disgenet
Rothmund Thomson Syndrome CREBBP disease C0032339 Biomarker 0.1 disgenet
Rothmund Thomson Syndrome WRN disease C0032339 Biomarker 0.08 disgenet
Rothmund Thomson Syndrome PAG1 disease C0032339 Biomarker 0.08 disgenet
Rothmund Thomson Syndrome WRN disease C0032339 GeneticVariation 0.08 disgenet
Rothmund Thomson Syndrome EIF4E disease C0032339 Biomarker 0.08 disgenet
Rothmund Thomson Syndrome OPN1LW disease C0032339 Biomarker 0.08 disgenet
Rothmund Thomson Syndrome PCBP4 disease C0032339 GeneticVariation 0.08 disgenet
Rothmund Thomson Syndrome WRN disease C0032339 AlteredExpression 0.08 disgenet
Rothmund Thomson Syndrome PAG1 disease C0032339 GeneticVariation 0.08 disgenet
Rothmund Thomson Syndrome OPN1LW disease C0032339 GeneticVariation 0.08 disgenet
Rothmund Thomson Syndrome EIF4E disease C0032339 GeneticVariation 0.08 disgenet
Rothmund Thomson Syndrome PCBP4 disease C0032339 Biomarker 0.08 disgenet
Rothmund Thomson Syndrome BLM disease C0032339 GeneticVariation 0.05 disgenet
Rothmund Thomson Syndrome BLM disease C0032339 Biomarker 0.05 disgenet
Rothmund Thomson Syndrome BLM disease C0032339 AlteredExpression 0.05 disgenet
Rothmund Thomson Syndrome HFM1 disease C0032339 GeneticVariation 0.04 disgenet
Rothmund Thomson Syndrome MECP2 disease C0032339 GeneticVariation 0.04 disgenet
Rothmund Thomson Syndrome ENOSF1 disease C0032339 Biomarker 0.04 disgenet
Rothmund Thomson Syndrome MECP2 disease C0032339 Biomarker 0.04 disgenet
Rothmund Thomson Syndrome ENOSF1 disease C0032339 GeneticVariation 0.04 disgenet
Rothmund Thomson Syndrome CREB1 disease C0032339 Biomarker 0.03 disgenet
Rothmund Thomson Syndrome CREB1 disease C0032339 AlteredExpression 0.03 disgenet
Rothmund Thomson Syndrome TP53 disease C0032339 AlteredExpression 0.02 disgenet
Rothmund Thomson Syndrome TP53 disease C0032339 Biomarker 0.02 disgenet
Rothmund Thomson Syndrome USB1 disease C0032339 GeneticVariation 0.02 disgenet
Rothmund Thomson Syndrome RUNX2 disease C0032339 GeneticVariation 0.02 disgenet
Rothmund Thomson Syndrome EP300 disease C0032339 GeneticVariation 0.02 disgenet
Rothmund Thomson Syndrome RUNX2 disease C0032339 Biomarker 0.02 disgenet
Rothmund Thomson Syndrome EP300 disease C0032339 Biomarker 0.02 disgenet
Rothmund Thomson Syndrome CHEK2 disease C0032339 AlteredExpression 0.01 disgenet
Rothmund Thomson Syndrome XRCC1 disease C0032339 Biomarker 0.01 disgenet
Rothmund Thomson Syndrome ATM disease C0032339 AlteredExpression 0.01 disgenet
Rothmund Thomson Syndrome DRC1 disease C0032339 Biomarker 0.01 disgenet
Rothmund Thomson Syndrome ZBTB18 disease C0032339 Biomarker 0.01 disgenet
Rothmund Thomson Syndrome TAZ disease C0032339 Biomarker 0.01 disgenet
Rothmund Thomson Syndrome TMPRSS11D disease C0032339 AlteredExpression 0.01 disgenet
Rothmund Thomson Syndrome TERT disease C0032339 Biomarker 0.01 disgenet
Rothmund Thomson Syndrome MAPK14 disease C0032339 AlteredExpression 0.01 disgenet
Rothmund Thomson Syndrome FAM111B disease C0032339 Biomarker 0.01 disgenet
Rothmund Thomson Syndrome PDK1 disease C0032339 GeneticVariation 0.01 disgenet
Rothmund Thomson Syndrome HDAC8 disease C0032339 GeneticVariation 0.01 disgenet
Rothmund Thomson Syndrome APC disease C0032339 GeneticVariation 0.01 disgenet
Rothmund Thomson Syndrome GH1 disease C0032339 GeneticVariation 0.01 disgenet
Rothmund Thomson Syndrome GINS4 disease C0032339 Biomarker 0.01 disgenet
Rothmund Thomson Syndrome PDE4A disease C0032339 Biomarker 0.01 disgenet
Rothmund Thomson Syndrome RECQL disease C0032339 GeneticVariation 0.01 disgenet
Rothmund Thomson Syndrome CDC45 disease C0032339 Biomarker 0.01 disgenet
Rothmund Thomson Syndrome ANAPC1 NA C0032339 NA NA orphanet
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