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