rs370507566, PCSK9

N. diseases: 3
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
CUI: C1863551
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
0.700 GeneticVariation UNIPROT Annexin A2 reduces PCSK9 protein levels via a translational mechanism and interacts with the M1 and M2 domains of PCSK9. 24808179 2014
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
CUI: C1863551
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
0.700 GeneticVariation UNIPROT Annexin A2 is a C-terminal PCSK9-binding protein that regulates endogenous low density lipoprotein receptor levels. 18799458 2008
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
CUI: C1863551
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
0.700 GeneticVariation UNIPROT Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. 12730697 2003