Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
0.700 CausalMutation disease CLINVAR PCSK 9 gain-of-function mutations (R496W and D374Y) and clinical cardiovascular characteristics in a cohort of Turkish patients with familial hypercholesterolemia. 28777095 2017
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
0.700 CausalMutation disease CLINVAR Proprotein convertase subtilisin/kexin 9 V4I variant with LDLR mutations modifies the phenotype of familial hypercholesterolemia. 27206942 2017
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
0.700 GeneticVariation disease CLINVAR Studies of the autoinhibitory segment comprising residues 31-60 of the prodomain of PCSK9: Possible implications for the mechanism underlying gain-of-function mutations. 27896130 2016
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
0.700 GeneticVariation disease CLINVAR Trafficking Dynamics of PCSK9-Induced LDLR Degradation: Focus on Human PCSK9 Mutations and C-Terminal Domain. 27280970 2016
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
0.700 CausalMutation disease CLINVAR Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody. 26374825 2015
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
0.700 GeneticVariation disease CLINVAR Genotypic and phenotypic features in homozygous familial hypercholesterolemia caused by proprotein convertase subtilisin/kexin type 9 (PCSK9) gain-of-function mutation. 25014035 2014
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
0.700 GeneticVariation disease CLINVAR The novel variant p.Ser465Leu in the PCSK9 gene does not account for the decreased LDLR activity in members of a FH family. 24607922 2014
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
0.700 GeneticVariation disease 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
0.700 Biomarker disease GENOMICS_ENGLAND Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study. 23433573 2013
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
0.700 GeneticVariation disease CLINVAR The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia. 23680767 2013
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
0.700 CausalMutation disease CLINVAR Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 23375686 2013
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
0.700 CausalMutation disease CLINVAR Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia. 22683120 2012
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
0.700 GeneticVariation disease CLINVAR The E32K variant of PCSK9 exacerbates the phenotype of familial hypercholesterolaemia by increasing PCSK9 function and concentration in the circulation. 20006333 2010
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
0.700 GeneticVariation disease CLINVAR Degradation of LDLR protein mediated by 'gain of function' PCSK9 mutants in normal and ARH cells. 19081568 2009
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
0.700 CausalMutation disease CLINVAR Degradation of LDLR protein mediated by 'gain of function' PCSK9 mutants in normal and ARH cells. 19081568 2009
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
0.700 GeneticVariation disease CLINVAR Investigations on the evolutionary conservation of PCSK9 reveal a functionally important protrusion. 18631360 2008
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
0.700 GeneticVariation disease UNIPROT Annexin A2 is a C-terminal PCSK9-binding protein that regulates endogenous low density lipoprotein receptor levels. 18799458 2008
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
0.700 GeneticVariation disease CLINVAR Identification and characterization of two non-secreted PCSK9 mutants associated with familial hypercholesterolemia in cohorts from New Zealand and South Africa. 17765244 2008
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
0.700 GeneticVariation disease CLINVAR Characterization of novel mutations in the catalytic domain of the PCSK9 gene. 18266662 2008
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
0.700 CausalMutation disease CLINVAR Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia. 16183066 2006
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
0.700 Biomarker disease GENOMICS_ENGLAND Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote. 16909389 2006
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
0.700 GeneticVariation disease UNIPROT Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. 12730697 2003
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
0.700 Biomarker disease CTD_human