Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.200 GeneticVariation disease GWASDB Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. 21347282 2011
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.100 GeneticVariation disease GWASDB A genome-wide association study identifies susceptibility loci for Wilms tumor. 22544364 2012
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.100 GeneticVariation phenotype GWASDB Common and low-frequency genetic variants in the PCSK9 locus influence circulating PCSK9 levels. 22460556 2012
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.100 GeneticVariation phenotype GWASDB Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. 18193044 2008
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.100 GeneticVariation phenotype GWASDB Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project. 22629316 2012
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.100 GeneticVariation phenotype GWASDB Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations. 23236364 2012
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.100 GeneticVariation phenotype GWASDB Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project. 22629316 2012
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.100 GeneticVariation phenotype GWASDB Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. 18193044 2008
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.100 GeneticVariation phenotype GWASDB Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations. 23236364 2012
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.100 GeneticVariation phenotype GWASDB Common and low-frequency genetic variants in the PCSK9 locus influence circulating PCSK9 levels. 22460556 2012
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.100 GeneticVariation phenotype GWASDB Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations. 23236364 2012
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		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
CUI: C1863551
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
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
CUI: C1863551
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
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
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.500 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
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: C1863551
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
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
CUI: C1863551
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
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
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		0.700 Biomarker disease HPO
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia 		0.200 Biomarker disease HPO
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.200 Biomarker disease HPO