Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Rubinstein Taybi Syndrome CREBBP disease C0035934 Biomarker 0.9 orphanet , disgenet
Rubinstein Taybi Syndrome CREBBP disease C0035934 AlteredExpression 0.9 orphanet , disgenet
Rubinstein Taybi Syndrome CREBBP disease C0035934 CausalMutation 0.9 orphanet , disgenet
Rubinstein Taybi Syndrome CREBBP disease C0035934 GeneticVariation 0.9 orphanet , disgenet
Rubinstein Taybi Syndrome EP300 disease C0035934 Biomarker 0.6 orphanet , disgenet
Rubinstein Taybi Syndrome EP300 disease C0035934 GeneticVariation 0.6 orphanet , disgenet
Rubinstein Taybi Syndrome SMOC1 disease C0035934 Biomarker 0.2 disgenet
Rubinstein Taybi Syndrome OPN1LW disease C0035934 Biomarker 0.1 disgenet
Rubinstein Taybi Syndrome PCBP4 disease C0035934 Biomarker 0.1 disgenet
Rubinstein Taybi Syndrome PCBP4 disease C0035934 GeneticVariation 0.1 disgenet
Rubinstein Taybi Syndrome OPN1LW disease C0035934 GeneticVariation 0.1 disgenet
Rubinstein Taybi Syndrome PCBP4 disease C0035934 AlteredExpression 0.1 disgenet
Rubinstein Taybi Syndrome PAG1 disease C0035934 GeneticVariation 0.1 disgenet
Rubinstein Taybi Syndrome OPN1LW disease C0035934 AlteredExpression 0.1 disgenet
Rubinstein Taybi Syndrome EIF4E disease C0035934 Biomarker 0.1 disgenet
Rubinstein Taybi Syndrome EIF4E disease C0035934 GeneticVariation 0.1 disgenet
Rubinstein Taybi Syndrome PAG1 disease C0035934 Biomarker 0.1 disgenet
Rubinstein Taybi Syndrome EIF4E disease C0035934 AlteredExpression 0.1 disgenet
Rubinstein Taybi Syndrome PAG1 disease C0035934 AlteredExpression 0.1 disgenet
Rubinstein Taybi Syndrome HTC2 disease C0035934 GeneticVariation 0.04 disgenet
Rubinstein Taybi Syndrome HTC2 disease C0035934 Biomarker 0.04 disgenet
Rubinstein Taybi Syndrome MECP2 disease C0035934 GeneticVariation 0.04 disgenet
Rubinstein Taybi Syndrome RECQL4 disease C0035934 GeneticVariation 0.03 disgenet
Rubinstein Taybi Syndrome ENOSF1 disease C0035934 GeneticVariation 0.03 disgenet
Rubinstein Taybi Syndrome TNC disease C0035934 GeneticVariation 0.01 disgenet
Rubinstein Taybi Syndrome BMP2 disease C0035934 Biomarker 0.01 disgenet
Rubinstein Taybi Syndrome SMARCA4 disease C0035934 Biomarker 0.01 disgenet
Rubinstein Taybi Syndrome ZEB2 disease C0035934 GeneticVariation 0.01 disgenet
Rubinstein Taybi Syndrome SMARCA2 disease C0035934 Biomarker 0.01 disgenet
Rubinstein Taybi Syndrome CREB1 disease C0035934 Biomarker 0.01 disgenet
Rubinstein Taybi Syndrome KAT6B disease C0035934 GeneticVariation 0.01 disgenet
Rubinstein Taybi Syndrome HBA1 disease C0035934 GeneticVariation 0.01 disgenet
Rubinstein Taybi Syndrome HBA2 disease C0035934 GeneticVariation 0.01 disgenet
Rubinstein Taybi Syndrome TWIST1 disease C0035934 GeneticVariation 0.01 disgenet
Rubinstein Taybi Syndrome OGG1 disease C0035934 AlteredExpression 0.01 disgenet
Rubinstein Taybi Syndrome TMPRSS11D disease C0035934 GeneticVariation 0.01 disgenet
Rubinstein Taybi Syndrome NIPBL disease C0035934 GeneticVariation 0.01 disgenet
Rubinstein Taybi Syndrome SHH disease C0035934 GeneticVariation 0.01 disgenet
Rubinstein Taybi Syndrome IGFALS disease C0035934 GeneticVariation 0.01 disgenet
Rubinstein Taybi Syndrome TNFRSF13B disease C0035934 GeneticVariation 0.01 disgenet
Rubinstein Taybi Syndrome POU1F1 disease C0035934 GeneticVariation 0.01 disgenet
Rubinstein Taybi Syndrome SLC20A1 disease C0035934 GeneticVariation 0.01 disgenet
Rubinstein Taybi Syndrome SRCAP disease C0035934 Biomarker 0.01 disgenet
Rubinstein Taybi Syndrome FOXG1 disease C0035934 Biomarker 0.01 disgenet
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