Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Facioscapulohumeral Muscular Dystrophy 1B SMCHD1 disease C1834671 CausalMutation 0.76 disgenet
Facioscapulohumeral Muscular Dystrophy 1B SMCHD1 disease C1834671 Biomarker 0.76 disgenet
Facioscapulohumeral Muscular Dystrophy 1B SMCHD1 disease C1834671 GeneticVariation 0.76 disgenet
Facioscapulohumeral Muscular Dystrophy 1B DNMT3B disease C1834671 GeneticVariation 0.3 disgenet
Facioscapulohumeral Muscular Dystrophy 1B DUX4 disease C1834671 AlteredExpression 0.02 disgenet
Facioscapulohumeral Muscular Dystrophy 1B CAPN3 disease C1834671 Biomarker 0.01 disgenet
Facioscapulohumeral Muscular Dystrophy 1B FSHMD1A disease C1834671 Biomarker 0.01 disgenet
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