| Disease ID | Disease name | Source of annotation with RBP4 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 615147 | RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | RBP4 |
| PS300345 | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 8 | TENM3, RBP4, GDF6, SHH, STRA6, GDF3, ABCB6, VSX2 |
Download the gene annotation in CSV format
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Retinoid metabolism and transport | R-HSA-975634 | 7.59 |
| Retinoid cycle disease events | R-HSA-2453864 | 9.28 |
| Visual phototransduction | R-HSA-2187338 | 6.44 |
| Diseases of signal transduction | R-HSA-5663202 | 4.89 |
| Diseases associated with visual transduction | R-HSA-2474795 | 9.28 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| The canonical retinoid cycle in rods (twilight vision) | R-HSA-2453902 | 8.52 |
| Disease | R-HSA-1643685 | 3.33 |
| GO term | GO ID | GO IC |
|---|---|---|
| lipid transporter activity | GO:0005319 | 5.03 |
| substrate-specific transporter activity | GO:0022892 | 2.72 |
| vitamin transporter activity | GO:0051183 | 6.56 |
| alcohol binding | GO:0043178 | 5.53 |
| transporter activity | GO:0005215 | 2.57 |
| isoprenoid binding | GO:0019840 | 6.05 |
| retinol binding | GO:0019841 | 7.17 |
| vitamin binding | GO:0019842 | 5.34 |
| lipid binding | GO:0008289 | 3.26 |
| small molecule binding | GO:0036094 | 1.89 |
| retinol transporter activity | GO:0034632 | 9.74 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| protein dimerization activity | GO:0046983 | 2.72 |
| protein heterodimerization activity | GO:0046982 | 3.64 |
| retinoid binding | GO:0005501 | 6.1 |
| retinal binding | GO:0016918 | 7.1 |