| Disease ID | Disease name | Source of annotation with RP2 | 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 |
|---|---|---|
| Cargo trafficking to the periciliary membrane | R-HSA-5620920 | 7.31 |
| Organelle biogenesis and maintenance | R-HSA-1852241 | 4.63 |
| Assembly of the primary cilium | R-HSA-5617833 | 5.44 |
| Trafficking of myristoylated proteins to the cilium | R-HSA-5624138 | 10.66 |
| GO term | GO ID | GO IC |
|---|---|---|
| purine ribonucleoside triphosphate binding | GO:0035639 | 2.22 |
| binding | GO:0005488 | 0.18 |
| molecular function regulator | GO:0098772 | 2.51 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| purine nucleoside binding | GO:0001883 | 2.22 |
| nucleoside binding | GO:0001882 | 2.21 |
| unfolded protein binding | GO:0051082 | 5.13 |
| nucleotide binding | GO:0000166 | 1.96 |
| actin binding | GO:0003779 | 3.74 |
| guanyl ribonucleotide binding | GO:0032561 | 3.73 |
| nucleoside phosphate binding | GO:1901265 | 1.96 |
| ribonucleoside binding | GO:0032549 | 2.22 |
| purine nucleotide binding | GO:0017076 | 2.19 |
| GTP binding | GO:0005525 | 3.78 |
| enzyme regulator activity | GO:0030234 | 2.85 |
| GTPase activator activity | GO:0005096 | 4.11 |
| small molecule binding | GO:0036094 | 1.89 |
| GTPase regulator activity | GO:0030695 | 4.01 |
| nucleoside-triphosphatase regulator activity | GO:0060589 | 3.92 |
| cytoskeletal protein binding | GO:0008092 | 3.02 |
| carbohydrate derivative binding | GO:0097367 | 2.03 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| guanyl nucleotide binding | GO:0019001 | 3.73 |
| protein binding | GO:0005515 | 0.46 |
| purine ribonucleotide binding | GO:0032555 | 2.2 |
| purine ribonucleoside binding | GO:0032550 | 2.22 |
| ribonucleotide binding | GO:0032553 | 2.19 |
| enzyme activator activity | GO:0008047 | 3.56 |