Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Mosaic variegated aneuploidy syndrome 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 10 20 1.000 definitive 1.000 14 18 2004 2019