| Disease ID | Disease name | Source of annotation with RBP3 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS268000 | RETINITIS PIGMENTOSA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 69 | PDE6A, MAK, FSCN2, DHDDS, RHO, RP9, CNGA1, CRB1, SLC7A14, BEST1, CERKL, PRPF3, C8orf37, PROM1, TOPORS, PRPH2, PRCD, SNRNP200, IMPG2, PDE6B, IDH3B, RGR, TTC8, GUCA1B, CDHR1, PANK2, RDH12, BBS2, MERTK, RP1L1, NEK2, USH2A, ZNF408, LRAT, C2orf71, MYO7A, KLHL7, IMPDH1, ZNF513, RP1, NR2E3, PDE6G, ROM1, CYGB, ARL6, NRL, RPGR, PRPF4, RP2, IFT172, HGSNAT, TULP1, CNGB1, KIZ, EYS, OFD1, RPE65, PRPF6, FAM161A, RBP3, IFT140, PRPF8, ABCA4, CLRN1, PRPF31, SAG, CA4, CRX, SEMA4A |
Download the gene annotation in CSV format
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| The retinoid cycle in cones (daylight vision) | R-HSA-2187335 | 10.4 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| Visual phototransduction | R-HSA-2187338 | 6.44 |
| The canonical retinoid cycle in rods (twilight vision) | R-HSA-2453902 | 8.52 |
| GO term | GO ID | GO IC |
|---|---|---|
| hydrolase activity | GO:0016787 | 1.9 |
| serine hydrolase activity | GO:0017171 | 4.26 |
| alcohol binding | GO:0043178 | 5.53 |
| 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 |
| catalytic activity | GO:0003824 | 1.05 |
| peptidase activity, acting on L-amino acid peptides | GO:0070011 | 3.26 |
| binding | GO:0005488 | 0.18 |
| peptidase activity | GO:0008233 | 3.23 |
| retinal binding | GO:0016918 | 7.1 |
| retinoid binding | GO:0005501 | 6.1 |
| serine-type peptidase activity | GO:0008236 | 4.27 |