Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Mosaic variegated aneuploidy syndrome BUB1B disease C1850343 GeneticVariation 1 orphanet , disgenet
Mosaic variegated aneuploidy syndrome BUB1B disease C1850343 CausalMutation 1 orphanet , disgenet
Mosaic variegated aneuploidy syndrome BUB1B disease C1850343 AlteredExpression 1 orphanet , disgenet
Mosaic variegated aneuploidy syndrome BUB1B disease C1850343 Biomarker 1 orphanet , disgenet
Mosaic variegated aneuploidy syndrome BUB1B disease C1850343 GermlineCausalMutation 1 orphanet , disgenet
Mosaic variegated aneuploidy syndrome CEP57 disease C1850343 CausalMutation 0.64 orphanet , disgenet
Mosaic variegated aneuploidy syndrome CEP57 disease C1850343 GeneticVariation 0.64 orphanet , disgenet
Mosaic variegated aneuploidy syndrome CEP57 disease C1850343 Biomarker 0.64 orphanet , disgenet
Mosaic variegated aneuploidy syndrome CEP57 disease C1850343 GermlineCausalMutation 0.64 orphanet , disgenet
Mosaic variegated aneuploidy syndrome TRIP13 disease C1850343 Biomarker 0.5 orphanet , disgenet
Mosaic variegated aneuploidy syndrome TRIP13 disease C1850343 GermlineCausalMutation 0.5 orphanet , disgenet
Mosaic variegated aneuploidy syndrome BUB1 disease C1850343 GermlineCausalMutation 0.31 orphanet , disgenet
Mosaic variegated aneuploidy syndrome BUB1 disease C1850343 GeneticVariation 0.31 orphanet , disgenet
Mosaic variegated aneuploidy syndrome BUB3 disease C1850343 GermlineCausalMutation 0.31 orphanet , disgenet
Mosaic variegated aneuploidy syndrome BUB3 disease C1850343 GeneticVariation 0.31 orphanet , disgenet
Mosaic variegated aneuploidy syndrome BUB1B-PAK6 disease C1850343 CausalMutation 0.1 disgenet
Mosaic variegated aneuploidy syndrome PAK6 disease C1850343 CausalMutation 0.1 disgenet
Mosaic variegated aneuploidy syndrome CNTN3 disease C1850343 Biomarker 0.02 disgenet
Mosaic variegated aneuploidy syndrome CD19 disease C1850343 Biomarker 0.01 disgenet
Mosaic variegated aneuploidy syndrome APC disease C1850343 GeneticVariation 0.01 disgenet
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