Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1860488
Disease: Abnormal internal carotid artery morphology
Abnormal internal carotid artery morphology 		0.100 Biomarker disease HPO
CUI: C1867743
Disease: Premature coronary artery atherosclerosis
Premature coronary artery atherosclerosis 		0.100 Biomarker phenotype HPO
CUI: C3276239
Disease: LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1 		0.100 GeneticVariation phenotype CLINVAR
CUI: C4021654
Disease: Precocious atherosclerosis
Precocious atherosclerosis 		0.100 Biomarker phenotype HPO
CUI: C4021796
Disease: Renal steatosis
Renal steatosis 		0.100 Biomarker disease HPO
CUI: C4022811
Disease: Abnormality of nervous system physiology
Abnormality of nervous system physiology 		0.100 Biomarker phenotype HPO
CUI: C4022924
Disease: Abnormal eye physiology
Abnormal eye physiology 		0.100 Biomarker phenotype HPO
CUI: C4024924
Disease: Cerebral artery atherosclerosis
Cerebral artery atherosclerosis 		0.100 Biomarker disease HPO
CUI: C4025000
Disease: Myocardial steatosis
Myocardial steatosis 		0.100 Biomarker phenotype HPO
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		0.700 Biomarker disease CTD_human Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. 12730697 2003
CUI: C1863551
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 		0.700 GeneticVariation disease UNIPROT Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. 12730697 2003
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.500 GeneticVariation disease LHGDN Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. 12730697 2003
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.200 GeneticVariation disease BEFREE Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. 12730697 2003
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.200 GeneticVariation disease BEFREE Mutations in the proprotein convertase subtilisin/kexin 9 ( PCSK9) gene have been reported in affected members of two families with autosomal dominant hypercholesterolemia. 14727156 2004
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		0.700 GeneticVariation disease LHGDN A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree. 14727179 2004
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.200 GeneticVariation disease BEFREE A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree. 14727179 2004
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.500 GeneticVariation disease BEFREE In this study, DNA sequencing of the 12 exons of the PCSK9 gene has been performed in 51 Norwegian subjects with a clinical diagnosis of familial hypercholesterolemia where mutations in the low-density lipoprotein receptor gene and mutation R3500Q in the apolipoprotein B-100 gene had been excluded. 15099351 2004
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.500 GeneticVariation disease LHGDN Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia. 15099351 2004
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.200 GeneticVariation disease BEFREE Our findings support the notion that mutations in the PCSK9 gene cause autosomal dominant hypercholesterolemia. 15099351 2004
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.200 GeneticVariation disease BEFREE Apolipoprotein B100 metabolism in autosomal-dominant hypercholesterolemia related to mutations in PCSK9. 15166014 2004
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.030 GeneticVariation disease BEFREE We have reported further heterogeneity in familial autosomal-dominant hypercholesterolemia (FH) related to mutation in proprotein convertase subtilisin/kexin type 9 (PCSK9) gene previously named neural apoptosis regulated convertase 1 (Narc-1). 15166014 2004
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.200 GeneticVariation disease BEFREE Very recently, mutations in PCSK9 have been also shown to cause autosomal dominant hypercholesterolemia. 15523646 2004
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.500 GeneticVariation disease BEFREE Since haplotype analysis of each family nevertheless suggested that the FH phenotype co-segregated in a manner consistent with linkage to the third FH locus in three small pedigrees, we performed sequencing analysis without being able to demonstrate mutations in the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene, the main candidate gene in the third FH locus. 15530918 2004
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.200 GeneticVariation disease BEFREE Since haplotype analysis of each family nevertheless suggested that the FH phenotype co-segregated in a manner consistent with linkage to the third FH locus in three small pedigrees, we performed sequencing analysis without being able to demonstrate mutations in the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene, the main candidate gene in the third FH locus. 15530918 2004
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.200 GeneticVariation disease BEFREE PCSK9 is the third locus implicated in autosomal dominant hypercholesterolemia (Hchola3), and it appears to play an important role in cellular cholesterol metabolism. 15767856 2005