| Disease ID | Disease name | Source of annotation with APOB | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 143890 | HYPERCHOLESTEROLEMIA, FAMILIAL | ClinVar | link to OMIM | 10 | APOA2, ITIH4, EPHX2, PCSK9, STAP1, PPP1R17, ABCA1, APOB, LDLR, GHR |
| 615558 | HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1 | OMIM, HUMSAVAR | link to OMIM | 1 | APOB |
| 144010 | HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | APOB |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Fat digestion and absorption | hsa04975 | 7.45 |
| Vitamin digestion and absorption | hsa04977 | 8.24 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Retinoid metabolism and transport | R-HSA-975634 | 7.59 |
| Scavenging by Class A Receptors | R-HSA-3000480 | 8.73 |
| Binding and Uptake of Ligands by Scavenger Receptors | R-HSA-2173782 | 5.38 |
| Lipoprotein metabolism | R-HSA-174824 | 8.23 |
| Visual phototransduction | R-HSA-2187338 | 6.44 |
| LDL-mediated lipid transport | R-HSA-171052 | 10.66 |
| Lipid digestion, mobilization, and transport | R-HSA-73923 | 7.2 |
| Cell surface interactions at the vascular wall | R-HSA-202733 | 6.32 |
| Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| Platelet homeostasis | R-HSA-418346 | 6.68 |
| Scavenging by Class H Receptors | R-HSA-3000497 | 10.98 |
| Platelet sensitization by LDL | R-HSA-432142 | 8.89 |
| Scavenging by Class B Receptors | R-HSA-3000471 | 10.66 |
| Scavenging by Class F Receptors | R-HSA-3000484 | 10.4 |
| Hemostasis | R-HSA-109582 | 3.98 |
| Chylomicron-mediated lipid transport | R-HSA-174800 | 9.18 |
| Vesicle-mediated transport | R-HSA-5653656 | 4.33 |
| GO term | GO ID | GO IC |
|---|---|---|
| lipid transporter activity | GO:0005319 | 5.03 |
| sulfur compound binding | GO:1901681 | 4.32 |
| enzyme binding | GO:0019899 | 2.27 |
| substrate-specific transporter activity | GO:0022892 | 2.72 |
| glycosaminoglycan binding | GO:0005539 | 4.42 |
| carbohydrate derivative binding | GO:0097367 | 2.03 |
| lipoprotein particle receptor binding | GO:0070325 | 6.65 |
| phospholipid binding | GO:0005543 | 3.91 |
| lipid binding | GO:0008289 | 3.26 |
| cholesterol transporter activity | GO:0017127 | 7.17 |
| heparin binding | GO:0008201 | 4.68 |
| lipase binding | GO:0035473 | 7.95 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| transporter activity | GO:0005215 | 2.57 |
| receptor binding | GO:0005102 | 2.43 |
| sterol transporter activity | GO:0015248 | 6.85 |
| low-density lipoprotein particle receptor binding | GO:0050750 | 6.91 |