Disease ID | Disease name | Source of annotation with LDLR | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
143890 | HYPERCHOLESTEROLEMIA, FAMILIAL | ClinVar, OMIM, HUMSAVAR | link to OMIM | 10 | APOA2, ITIH4, EPHX2, PCSK9, STAP1, PPP1R17, ABCA1, APOB, LDLR, GHR |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Ovarian steroidogenesis | hsa04913 | 7.07 |
Hepatitis C | hsa05160 | 5.68 |
Endocytosis | hsa04144 | 4.92 |
Bile secretion | hsa04976 | 6.56 |
Toxoplasmosis | hsa05145 | 5.71 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Lipoprotein metabolism | R-HSA-174824 | 8.23 |
Visual phototransduction | R-HSA-2187338 | 6.44 |
Metabolism | R-HSA-1430728 | 2.34 |
Signal Transduction | R-HSA-162582 | 1.78 |
Retinoid metabolism and transport | R-HSA-975634 | 7.59 |
Lipid digestion, mobilization, and transport | R-HSA-73923 | 7.2 |
Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
LDL-mediated lipid transport | R-HSA-171052 | 10.66 |
Chylomicron-mediated lipid transport | R-HSA-174800 | 9.18 |
GO term | GO ID | GO IC |
---|---|---|
cargo receptor activity | GO:0038024 | 5.53 |
very-low-density lipoprotein particle receptor activity | GO:0030229 | 8.35 |
lipoprotein particle receptor activity | GO:0030228 | 6.97 |
low-density lipoprotein receptor activity | GO:0005041 | 7.17 |
enzyme binding | GO:0019899 | 2.27 |
molecular transducer activity | GO:0060089 | 2.32 |
macromolecular complex binding | GO:0044877 | 2.61 |
binding | GO:0005488 | 0.18 |
glycoprotein binding | GO:0001948 | 5.11 |
cation binding | GO:0043169 | 1.4 |
ion binding | GO:0043167 | 1.36 |
calcium ion binding | GO:0005509 | 3.17 |
protease binding | GO:0002020 | 5.08 |
metal ion binding | GO:0046872 | 1.41 |
identical protein binding | GO:0042802 | 2.63 |
clathrin heavy chain binding | GO:0032050 | 7.95 |
clathrin binding | GO:0030276 | 5.55 |
low-density lipoprotein particle binding | GO:0030169 | 7.03 |
lipoprotein particle binding | GO:0071813 | 6.56 |
protein-lipid complex binding | GO:0071814 | 6.56 |
carbohydrate derivative binding | GO:0097367 | 2.03 |
virus receptor activity | GO:0001618 | 5.49 |
protein binding | GO:0005515 | 0.46 |
receptor activity | GO:0004872 | 2.32 |