Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Wolf-Hirschhorn Syndrome NSD2 disease C1956097 Biomarker 0.9 orphanet , disgenet
Wolf-Hirschhorn Syndrome NSD2 disease C1956097 ChromosomalRearrangement 0.9 orphanet , disgenet
Wolf-Hirschhorn Syndrome NSD2 disease C1956097 CausalMutation 0.9 orphanet , disgenet
Wolf-Hirschhorn Syndrome NSD2 disease C1956097 GeneticVariation 0.9 orphanet , disgenet
Wolf-Hirschhorn Syndrome NSD2 disease C1956097 AlteredExpression 0.9 orphanet , disgenet
Wolf-Hirschhorn Syndrome LETM1 disease C1956097 GeneticVariation 0.6 orphanet , disgenet
Wolf-Hirschhorn Syndrome LETM1 disease C1956097 Biomarker 0.6 orphanet , disgenet
Wolf-Hirschhorn Syndrome LETM1 disease C1956097 AlteredExpression 0.6 orphanet , disgenet
Wolf-Hirschhorn Syndrome LETM1 disease C1956097 ChromosomalRearrangement 0.6 orphanet , disgenet
Wolf-Hirschhorn Syndrome FGFRL1 disease C1956097 Biomarker 0.51 disgenet
Wolf-Hirschhorn Syndrome MSX1 disease C1956097 Biomarker 0.33 disgenet
Wolf-Hirschhorn Syndrome MSX1 disease C1956097 GeneticVariation 0.33 disgenet
Wolf-Hirschhorn Syndrome NELFA disease C1956097 GeneticVariation 0.33 orphanet , disgenet
Wolf-Hirschhorn Syndrome NELFA disease C1956097 Biomarker 0.33 orphanet , disgenet
Wolf-Hirschhorn Syndrome CTBP1 disease C1956097 Biomarker 0.3 orphanet , disgenet
Wolf-Hirschhorn Syndrome WTRS disease C1956097 Biomarker 0.3 disgenet
Wolf-Hirschhorn Syndrome WHCR disease C1956097 Biomarker 0.3 disgenet
Wolf-Hirschhorn Syndrome CPLX1 disease C1956097 Biomarker 0.3 orphanet , disgenet
Wolf-Hirschhorn Syndrome HTC2 disease C1956097 Biomarker 0.05 disgenet
Wolf-Hirschhorn Syndrome IL1RL1 disease C1956097 GeneticVariation 0.04 disgenet
Wolf-Hirschhorn Syndrome IL1RL1 disease C1956097 Biomarker 0.04 disgenet
Wolf-Hirschhorn Syndrome FGFR3 disease C1956097 GeneticVariation 0.03 disgenet
Wolf-Hirschhorn Syndrome FGFR3 disease C1956097 Biomarker 0.03 disgenet
Wolf-Hirschhorn Syndrome SET disease C1956097 Biomarker 0.02 disgenet
Wolf-Hirschhorn Syndrome CDKN2A disease C1956097 GeneticVariation 0.02 disgenet
Wolf-Hirschhorn Syndrome SET disease C1956097 AlteredExpression 0.02 disgenet
Wolf-Hirschhorn Syndrome GH1 disease C1956097 Biomarker 0.01 disgenet
Wolf-Hirschhorn Syndrome SLBP disease C1956097 Biomarker 0.01 disgenet
Wolf-Hirschhorn Syndrome EZH2 disease C1956097 AlteredExpression 0.01 disgenet
Wolf-Hirschhorn Syndrome SUB1 disease C1956097 GeneticVariation 0.01 disgenet
Wolf-Hirschhorn Syndrome SF3B6 disease C1956097 GeneticVariation 0.01 disgenet
Wolf-Hirschhorn Syndrome H3P8 disease C1956097 GeneticVariation 0.01 disgenet
Wolf-Hirschhorn Syndrome WFS1 disease C1956097 GeneticVariation 0.01 disgenet
Wolf-Hirschhorn Syndrome TACC3 disease C1956097 Biomarker 0.01 disgenet
Wolf-Hirschhorn Syndrome RBPJ disease C1956097 Biomarker 0.01 disgenet
Wolf-Hirschhorn Syndrome LAMTOR2 disease C1956097 GeneticVariation 0.01 disgenet
Wolf-Hirschhorn Syndrome ALB disease C1956097 GeneticVariation 0.01 disgenet
Wolf-Hirschhorn Syndrome CDK2AP2 disease C1956097 GeneticVariation 0.01 disgenet
Wolf-Hirschhorn Syndrome LAP3 disease C1956097 AlteredExpression 0.01 disgenet
Wolf-Hirschhorn Syndrome S100A9 disease C1956097 GeneticVariation 0.01 disgenet
Wolf-Hirschhorn Syndrome ZNF141 disease C1956097 Biomarker 0.01 disgenet
Wolf-Hirschhorn Syndrome RPP14 disease C1956097 GeneticVariation 0.01 disgenet
Wolf-Hirschhorn Syndrome C4orf48 disease C1956097 Biomarker 0.01 disgenet
Wolf-Hirschhorn Syndrome H3P10 disease C1956097 GeneticVariation 0.01 disgenet
Wolf-Hirschhorn Syndrome OXA1L disease C1956097 GeneticVariation 0.01 disgenet
Wolf-Hirschhorn Syndrome DRD5 disease C1956097 Biomarker 0.01 disgenet
Wolf-Hirschhorn Syndrome PIGG NA C1956097 NA NA orphanet
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