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Hypercholesterolemia; autosomal dominant, 3

Disease ID:447
Name:Hypercholesterolemia; autosomal dominant, 3
Associated with:1 target
Familial hypercholesterolemia
Database Links
Disease Ontology: DOID:13810
OMIM: 603776


proprotein convertase subtilisin/kexin type 9
References:  2-3
Mutations:  proprotein convertase subtilisin/kexin type 9 is associated with 3 mutation. Click here for details


No ligand related data available for Hypercholesterolemia; autosomal dominant, 3


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1. Abifadel M, Elbitar S, El Khoury P, Ghaleb Y, Chémaly M, Moussalli ML, Rabès JP, Varret M, Boileau C. (2014) Living the PCSK9 Adventure: from the Identification of a New Gene in Familial Hypercholesterolemia Towards a Potential New Class of Anticholesterol Drugs. Curr Atheroscler Rep, 16 (9): 439. [PMID:25052769]

2. Abifadel M, Varret M, Rabès JP, Allard D, Ouguerram K, Devillers M, Cruaud C, Benjannet S, Wickham L, Erlich D et al.. (2003) Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat Genet, 34 (2): 154-6. [PMID:12730697]

3. Humphries SE, Neely RD, Whittall RA, Troutt JS, Konrad RJ, Scartezini M, Li KW, Cooper JA, Acharya J, Neil A. (2009) Healthy individuals carrying the PCSK9 p.R46L variant and familial hypercholesterolemia patients carrying PCSK9 p.D374Y exhibit lower plasma concentrations of PCSK9. Clin Chem, 55 (12): 2153-61. [PMID:19797716]