Disease Annotation

Gene Info

  • Species:Human (Homo sapiens)
  • GeneID:3949
  • Symbol:LDLR
  • Description:low density lipoprotein receptor

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Disease_Term Source Rank Other Values
Hypercholesterolemia, familial, 143890 (3) OMIM high
  • Genome region :19p13.2
  • OMIM_ID :143890OMIM phenotype ID
  • OMIM_ID :606945OMIM gene ID
LDL cholesterol level QTL2, 143890 (3) OMIM high
  • Genome region :19p13.2
  • OMIM_ID :143890OMIM phenotype ID
  • OMIM_ID :606945OMIM gene ID
Lipid metabolism phenotypes GWAS high
Coronary artery disease or ischemic stroke GWAS high
Myocardial infarction GWAS high
Carotid intima media thickness GWAS high
Lipoprotein-associated phospholipase A2 activity and mass GWAS high
Coronary artery disease or large artery stroke GWAS high
Myocardial infarction (early onset) GWAS high
LDL cholesterol GWAS high
Cholesterol, total GWAS high
Metabolite levels GWAS high
Coronary heart disease GWAS high
Abdominal aortic aneurysm GWAS high
Coronary artery disease GWAS high
Metabolite levels (lipoprotein measures) GWAS high
C-reactive protein levels or LDL-cholesterol levels (pleiotropy) GWAS high
Cardiovascular disease risk factors GWAS high