| Disease ID | Disease name | Source of annotation with SAG | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS310500 | NIGHT BLINDNESS, CONGENITAL STATIONARY | ClinVar, OMIM | link to OMIM | 12 | LRIT3, SLC24A1, GNAT1, NYX, TRPM1, CACNA1F, GRK1, RHO, GPR179, SAG, GRM6, PDE6B |
| PS268000 | RETINITIS PIGMENTOSA | OMIM | 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 phototransduction cascade | R-HSA-2514856 | 8.03 |
| Activation of the phototransduction cascade | R-HSA-2485179 | 9.52 |
| Visual phototransduction | R-HSA-2187338 | 6.44 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| Inactivation, recovery and regulation of the phototransduction cascade | R-HSA-2514859 | 8.08 |
| GO term | GO ID | GO IC |
|---|---|---|
| phosphatase inhibitor activity | GO:0019212 | 6.02 |
| protein phosphatase regulator activity | GO:0019888 | 5.41 |
| enzyme regulator activity | GO:0030234 | 2.85 |
| phosphoprotein binding | GO:0051219 | 5.64 |
| phosphatase regulator activity | GO:0019208 | 5.26 |
| protein phosphatase inhibitor activity | GO:0004864 | 6.07 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| opsin binding | GO:0002046 | 8.35 |
| molecular function regulator | GO:0098772 | 2.51 |
| enzyme inhibitor activity | GO:0004857 | 3.78 |