Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
De Lange Syndrome NIPBL disease C0270972 CausalMutation 0.9 orphanet , disgenet
De Lange Syndrome NIPBL disease C0270972 AlteredExpression 0.9 orphanet , disgenet
De Lange Syndrome NIPBL disease C0270972 GeneticVariation 0.9 orphanet , disgenet
De Lange Syndrome NIPBL disease C0270972 Biomarker 0.9 orphanet , disgenet
De Lange Syndrome RAD21 disease C0270972 GermlineCausalMutation 0.7 orphanet , disgenet
De Lange Syndrome RAD21 disease C0270972 Biomarker 0.7 orphanet , disgenet
De Lange Syndrome RAD21 disease C0270972 GeneticVariation 0.7 orphanet , disgenet
De Lange Syndrome HDAC8 disease C0270972 GermlineCausalMutation 0.6 orphanet , disgenet
De Lange Syndrome HDAC8 disease C0270972 Biomarker 0.6 orphanet , disgenet
De Lange Syndrome HDAC8 disease C0270972 AlteredExpression 0.6 orphanet , disgenet
De Lange Syndrome HDAC8 disease C0270972 GeneticVariation 0.6 orphanet , disgenet
De Lange Syndrome SMC1A disease C0270972 Biomarker 0.4 orphanet , disgenet
De Lange Syndrome SMC3 disease C0270972 AlteredExpression 0.4 orphanet , disgenet
De Lange Syndrome SMC3 disease C0270972 Biomarker 0.4 orphanet , disgenet
De Lange Syndrome SMC1A disease C0270972 GeneticVariation 0.4 orphanet , disgenet
De Lange Syndrome SMC3 disease C0270972 GeneticVariation 0.4 orphanet , disgenet
De Lange Syndrome BRD4 disease C0270972 GeneticVariation 0.33 orphanet , disgenet
De Lange Syndrome BRD4 disease C0270972 Biomarker 0.33 orphanet , disgenet
De Lange Syndrome KMT2A disease C0270972 GeneticVariation 0.31 disgenet
De Lange Syndrome SETD5 disease C0270972 GermlineCausalMutation 0.3 disgenet
De Lange Syndrome PDS5A disease C0270972 Biomarker 0.21 disgenet
De Lange Syndrome KRAS disease C0270972 Biomarker 0.2 disgenet
De Lange Syndrome CENPJ disease C0270972 Biomarker 0.2 disgenet
De Lange Syndrome CEP63 disease C0270972 Biomarker 0.2 disgenet
De Lange Syndrome LZTR1 disease C0270972 Biomarker 0.2 disgenet
De Lange Syndrome RIT1 disease C0270972 Biomarker 0.2 disgenet
De Lange Syndrome PTPN11 disease C0270972 Biomarker 0.2 disgenet
De Lange Syndrome ATR disease C0270972 Biomarker 0.2 disgenet
De Lange Syndrome RAF1 disease C0270972 Biomarker 0.2 disgenet
De Lange Syndrome SOS1 disease C0270972 Biomarker 0.2 disgenet
De Lange Syndrome ESCO2 disease C0270972 Biomarker 0.02 disgenet
De Lange Syndrome NAALADL2 disease C0270972 GeneticVariation 0.02 disgenet
De Lange Syndrome NAALADL2 disease C0270972 Biomarker 0.02 disgenet
De Lange Syndrome TNKS disease C0270972 Biomarker 0.02 disgenet
De Lange Syndrome GPT disease C0270972 Biomarker 0.02 disgenet
De Lange Syndrome CREBBP disease C0270972 GeneticVariation 0.02 disgenet
De Lange Syndrome HDAC2 disease C0270972 Biomarker 0.01 disgenet
De Lange Syndrome FOXF1 disease C0270972 GeneticVariation 0.01 disgenet
De Lange Syndrome GSC disease C0270972 AlteredExpression 0.01 disgenet
De Lange Syndrome GH1 disease C0270972 Biomarker 0.01 disgenet
De Lange Syndrome EPS15L1 disease C0270972 GeneticVariation 0.01 disgenet
De Lange Syndrome AFF4 disease C0270972 GeneticVariation 0.01 disgenet
De Lange Syndrome STAG2 disease C0270972 GeneticVariation 0.01 disgenet
De Lange Syndrome DDX11 disease C0270972 Biomarker 0.01 disgenet
De Lange Syndrome SHOX2 disease C0270972 Biomarker 0.01 disgenet
De Lange Syndrome ANKRD11 disease C0270972 Biomarker 0.01 disgenet
De Lange Syndrome CRABP2 disease C0270972 Biomarker 0.01 disgenet
De Lange Syndrome ARSD disease C0270972 GeneticVariation 0.01 disgenet
De Lange Syndrome EP300 disease C0270972 Biomarker 0.01 disgenet
De Lange Syndrome PDS5B disease C0270972 GeneticVariation 0.01 disgenet
De Lange Syndrome CHRD disease C0270972 AlteredExpression 0.01 disgenet
De Lange Syndrome GALNT14 disease C0270972 GeneticVariation 0.01 disgenet
De Lange Syndrome MYC disease C0270972 AlteredExpression 0.01 disgenet
De Lange Syndrome MAU2 disease C0270972 GeneticVariation 0.01 disgenet
De Lange Syndrome DYM disease C0270972 Biomarker 0.01 disgenet
De Lange Syndrome CTCF disease C0270972 GeneticVariation 0.01 disgenet
De Lange Syndrome STAG1 disease C0270972 GeneticVariation 0.01 disgenet
De Lange Syndrome CARS1 disease C0270972 GeneticVariation 0.01 disgenet
De Lange Syndrome PHIP disease C0270972 Biomarker 0.01 disgenet
De Lange Syndrome NIPBL-DT disease C0270972 AlteredExpression 0.01 disgenet
De Lange Syndrome GRM1 disease C0270972 GeneticVariation 0.01 disgenet
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