| Disease ID | Disease name | Source of annotation with CYGB | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS268000 | RETINITIS PIGMENTOSA | ClinVar | 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 |
|---|---|---|
| eNOS activation | R-HSA-203615 | 9.98 |
| Metabolism | R-HSA-1430728 | 2.34 |
| eNOS activation and regulation | R-HSA-203765 | 8.81 |
| Metabolism of nitric oxide | R-HSA-202131 | 8.81 |
| GO term | GO ID | GO IC |
|---|---|---|
| oxygen transporter activity | GO:0005344 | 7.17 |
| nitric oxide dioxygenase activity | GO:0008941 | 9.05 |
| metal ion binding | GO:0046872 | 1.41 |
| binding | GO:0005488 | 0.18 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| oxidoreductase activity | GO:0016491 | 3.12 |
| cation binding | GO:0043169 | 1.4 |
| oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of two atoms of oxygen into one donor | GO:0016708 | 9.05 |
| fatty acid peroxidase activity | GO:0047888 | 9.74 |
| oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen | GO:0016705 | 4.65 |
| ion binding | GO:0043167 | 1.36 |
| iron ion binding | GO:0005506 | 4.65 |
| oxidoreductase activity, acting on peroxide as acceptor | GO:0016684 | 6.0 |
| heme binding | GO:0020037 | 4.86 |
| transporter activity | GO:0005215 | 2.57 |
| antioxidant activity | GO:0016209 | 5.49 |
| catalytic activity | GO:0003824 | 1.05 |
| oxygen binding | GO:0019825 | 5.89 |
| substrate-specific transporter activity | GO:0022892 | 2.72 |
| transition metal ion binding | GO:0046914 | 2.48 |
| dioxygenase activity | GO:0051213 | 5.25 |
| tetrapyrrole binding | GO:0046906 | 4.8 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| protein binding | GO:0005515 | 0.46 |
| catalase activity | GO:0004096 | 8.64 |
| peroxidase activity | GO:0004601 | 6.05 |