Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Kabuki syndrome KMT2D disease C0796004 GeneticVariation 1 orphanet , disgenet
Kabuki syndrome KMT2D disease C0796004 Biomarker 1 orphanet , disgenet
Kabuki syndrome KMT2D disease C0796004 AlteredExpression 1 orphanet , disgenet
Kabuki syndrome KMT2D disease C0796004 CausalMutation 1 orphanet , disgenet
Kabuki syndrome KDM6A disease C0796004 GeneticVariation 0.8 orphanet , disgenet
Kabuki syndrome KDM6A disease C0796004 AlteredExpression 0.8 orphanet , disgenet
Kabuki syndrome KDM6A disease C0796004 Biomarker 0.8 orphanet , disgenet
Kabuki syndrome KDM6A disease C0796004 GermlineCausalMutation 0.8 orphanet , disgenet
Kabuki syndrome RAP1A disease C0796004 GeneticVariation 0.31 disgenet
Kabuki syndrome RAP1B disease C0796004 GermlineCausalMutation 0.31 disgenet
Kabuki syndrome RAP1A disease C0796004 GermlineCausalMutation 0.31 disgenet
Kabuki syndrome RAP1B disease C0796004 GeneticVariation 0.31 disgenet
Kabuki syndrome KMT2B disease C0796004 GeneticVariation 0.1 disgenet
Kabuki syndrome KMT2A disease C0796004 CausalMutation 0.1 disgenet
Kabuki syndrome KMT2B disease C0796004 Biomarker 0.1 disgenet
Kabuki syndrome MACROD2 disease C0796004 Biomarker 0.02 disgenet
Kabuki syndrome HNRNPK disease C0796004 GeneticVariation 0.02 disgenet
Kabuki syndrome MACROD2 disease C0796004 GeneticVariation 0.02 disgenet
Kabuki syndrome HTC2 disease C0796004 Biomarker 0.02 disgenet
Kabuki syndrome ANOS1 disease C0796004 GeneticVariation 0.02 disgenet
Kabuki syndrome MKKS disease C0796004 GeneticVariation 0.02 disgenet
Kabuki syndrome TERF2IP disease C0796004 Biomarker 0.01 disgenet
Kabuki syndrome XIST disease C0796004 GeneticVariation 0.01 disgenet
Kabuki syndrome MYH6 disease C0796004 GeneticVariation 0.01 disgenet
Kabuki syndrome CHD7 disease C0796004 Biomarker 0.01 disgenet
Kabuki syndrome RABGEF1 disease C0796004 Biomarker 0.01 disgenet
Kabuki syndrome ITGB7 disease C0796004 Biomarker 0.01 disgenet
Kabuki syndrome MBD2 disease C0796004 GeneticVariation 0.01 disgenet
Kabuki syndrome MAP2K7 disease C0796004 Biomarker 0.01 disgenet
Kabuki syndrome FZR1 disease C0796004 GeneticVariation 0.01 disgenet
Kabuki syndrome TNFRSF13B disease C0796004 Biomarker 0.01 disgenet
Kabuki syndrome SET disease C0796004 GeneticVariation 0.01 disgenet
Kabuki syndrome SEPTIN9 disease C0796004 GeneticVariation 0.01 disgenet
Kabuki syndrome UTY disease C0796004 Biomarker 0.01 disgenet
Kabuki syndrome ZFPM2 disease C0796004 GeneticVariation 0.01 disgenet
Kabuki syndrome SOX3 disease C0796004 GeneticVariation 0.01 disgenet
Kabuki syndrome TUBA3D disease C0796004 Biomarker 0.01 disgenet
Kabuki syndrome RBPJ disease C0796004 AlteredExpression 0.01 disgenet
Kabuki syndrome POMC disease C0796004 Biomarker 0.01 disgenet
Kabuki syndrome EPHB2 disease C0796004 Biomarker 0.01 disgenet
Kabuki syndrome KDM1A disease C0796004 GeneticVariation 0.01 disgenet
Kabuki syndrome MAPK1 disease C0796004 Biomarker 0.01 disgenet
Kabuki syndrome GH1 disease C0796004 Biomarker 0.01 disgenet
Kabuki syndrome TUBA3C disease C0796004 Biomarker 0.01 disgenet
Kabuki syndrome ANKRD11 disease C0796004 GeneticVariation 0.01 disgenet
Kabuki syndrome BRAF disease C0796004 Biomarker 0.01 disgenet
Kabuki syndrome POGZ disease C0796004 AlteredExpression 0.01 disgenet
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