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 |