| Disease ID | Disease name | Source of annotation with TOPORS | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 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
| GO term | GO ID | GO IC |
|---|---|---|
| enzyme binding | GO:0019899 | 2.27 |
| zinc ion binding | GO:0008270 | 2.66 |
| nucleic acid binding | GO:0003676 | 1.44 |
| DNA binding | GO:0003677 | 1.92 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| ubiquitin-like protein transferase activity | GO:0019787 | 3.69 |
| cation binding | GO:0043169 | 1.4 |
| transition metal ion binding | GO:0046914 | 2.48 |
| ubiquitin protein ligase activity | GO:0061630 | 4.47 |
| SUMO transferase activity | GO:0019789 | 7.03 |
| ion binding | GO:0043167 | 1.36 |
| transferase activity | GO:0016740 | 1.95 |
| metal ion binding | GO:0046872 | 1.41 |
| catalytic activity | GO:0003824 | 1.05 |
| antigen binding | GO:0003823 | 5.02 |
| ubiquitin-protein transferase activity | GO:0004842 | 3.73 |
| ubiquitin-like protein ligase activity | GO:0061659 | 4.44 |
| DNA topoisomerase binding | GO:0044547 | 9.05 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| protein binding | GO:0005515 | 0.46 |
| ligase activity | GO:0016874 | 3.72 |
| binding | GO:0005488 | 0.18 |