| 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 |