| Disease ID | Disease name | Source of annotation with LRP2 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 222448 | DONNAI-BARROW SYNDROME | OMIM, HUMSAVAR | link to OMIM | 1 | LRP2 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Thyroid hormone synthesis | hsa04918 | 6.56 |
| Hedgehog signaling pathway | hsa04340 | 7.01 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Visual phototransduction | R-HSA-2187338 | 6.44 |
| Vitamin D (calciferol) metabolism | R-HSA-196791 | 10.18 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| Retinoid metabolism and transport | R-HSA-975634 | 7.59 |
| Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
| Metabolism of steroid hormones and vitamin D | R-HSA-196071 | 7.89 |
| GO term | GO ID | GO IC |
|---|---|---|
| binding | GO:0005488 | 0.18 |
| cation binding | GO:0043169 | 1.4 |
| cargo receptor activity | GO:0038024 | 5.53 |
| lipoprotein particle receptor activity | GO:0030228 | 6.97 |
| transporter activity | GO:0005215 | 2.57 |
| low-density lipoprotein receptor activity | GO:0005041 | 7.17 |
| SH3 domain binding | GO:0017124 | 4.98 |
| ion binding | GO:0043167 | 1.36 |
| molecular transducer activity | GO:0060089 | 2.32 |
| calcium ion binding | GO:0005509 | 3.17 |
| protein binding | GO:0005515 | 0.46 |
| protein domain specific binding | GO:0019904 | 3.32 |
| metal ion binding | GO:0046872 | 1.41 |
| lipoprotein transporter activity | GO:0042954 | 9.05 |
| receptor activity | GO:0004872 | 2.32 |