| Disease ID | Disease name | Source of annotation with RHO | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS310500 | NIGHT BLINDNESS, CONGENITAL STATIONARY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 12 | LRIT3, SLC24A1, GNAT1, NYX, TRPM1, CACNA1F, GRK1, RHO, GPR179, SAG, GRM6, PDE6B |
| 136880 | FUNDUS ALBIPUNCTATUS | OMIM | link to OMIM | 4 | PRPH2, RLBP1, RDH5, RHO |
| 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
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Phototransduction | hsa04744 | 7.91 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Activation of the phototransduction cascade | R-HSA-2485179 | 9.52 |
| Visual phototransduction | R-HSA-2187338 | 6.44 |
| Signaling by GPCR | R-HSA-372790 | 2.68 |
| The canonical retinoid cycle in rods (twilight vision) | R-HSA-2453902 | 8.52 |
| G alpha (i) signalling events | R-HSA-418594 | 5.1 |
| Organelle biogenesis and maintenance | R-HSA-1852241 | 4.63 |
| Opsins | R-HSA-419771 | 9.81 |
| Inactivation, recovery and regulation of the phototransduction cascade | R-HSA-2514859 | 8.08 |
| The phototransduction cascade | R-HSA-2514856 | 8.03 |
| VxPx cargo-targeting to cilium | R-HSA-5620916 | 8.59 |
| GPCR downstream signaling | R-HSA-388396 | 3.07 |
| Cargo trafficking to the periciliary membrane | R-HSA-5620920 | 7.31 |
| Assembly of the primary cilium | R-HSA-5617833 | 5.44 |
| GPCR ligand binding | R-HSA-500792 | 4.19 |
| Class A/1 (Rhodopsin-like receptors) | R-HSA-373076 | 4.69 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| GO term | GO ID | GO IC |
|---|---|---|
| binding | GO:0005488 | 0.18 |
| G-protein coupled photoreceptor activity | GO:0008020 | 7.34 |
| G-protein coupled receptor activity | GO:0004930 | 2.95 |
| photoreceptor activity | GO:0009881 | 6.97 |
| protein binding | GO:0005515 | 0.46 |
| cation binding | GO:0043169 | 1.4 |
| isoprenoid binding | GO:0019840 | 6.05 |
| lipid binding | GO:0008289 | 3.26 |
| vitamin binding | GO:0019842 | 5.34 |
| ion binding | GO:0043167 | 1.36 |
| small molecule binding | GO:0036094 | 1.89 |
| molecular transducer activity | GO:0060089 | 2.32 |
| transmembrane signaling receptor activity | GO:0004888 | 2.57 |
| receptor activity | GO:0004872 | 2.32 |
| signal transducer activity | GO:0004871 | 2.28 |
| signaling receptor activity | GO:0038023 | 2.49 |
| metal ion binding | GO:0046872 | 1.41 |
| retinoid binding | GO:0005501 | 6.1 |
| transmembrane receptor activity | GO:0099600 | 2.53 |
| retinal binding | GO:0016918 | 7.1 |