Disease ID | Disease name | Source of annotation with RLBP1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
136880 | FUNDUS ALBIPUNCTATUS | ClinVar, OMIM, HUMSAVAR | link to OMIM | 4 | PRPH2, RLBP1, RDH5, RHO |
607475 | BOTHNIA RETINAL DYSTROPHY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | RLBP1 |
607476 | NEWFOUNDLAND ROD-CONE DYSTROPHY | ClinVar, OMIM | link to OMIM | 1 | RLBP1 |
Download the gene annotation in CSV format
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
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 |
The retinoid cycle in cones (daylight vision) | R-HSA-2187335 | 10.4 |
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 |
---|---|---|
alcohol binding | GO:0043178 | 5.53 |
transporter activity | GO:0005215 | 2.57 |
isoprenoid binding | GO:0019840 | 6.05 |
lipid binding | GO:0008289 | 3.26 |
vitamin binding | GO:0019842 | 5.34 |
retinol binding | GO:0019841 | 7.17 |
small molecule binding | GO:0036094 | 1.89 |
binding | GO:0005488 | 0.18 |
retinoid binding | GO:0005501 | 6.1 |
11-cis retinal binding | GO:0005502 | 8.64 |
retinal binding | GO:0016918 | 7.1 |