OnlineIMD

PCSK9 deficiency

  • Type
    Disease
  • External link(s)
    • IEMbase
  • Gene
    • PCSK9 / Proprotein Convertase Subtilisin/Kexin Type 9
      • 1p32.3
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Proprotein convertase subtilisin/kexin type 9
  • Disease group(s)
    • 15.1    Disorders of low-density lipoprotein (LDL) metabolism
  • Child entries
    • PCSK9-related familial hypercholesterolemia