| Disease ID | Disease name | Source of annotation with PDE6G | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS268000 | RETINITIS PIGMENTOSA | ClinVar, 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
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Phototransduction | hsa04744 | 7.91 |
| Purine metabolism | hsa00230 | 5.28 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Signaling by Wnt | R-HSA-195721 | 4.79 |
| Visual phototransduction | R-HSA-2187338 | 6.44 |
| beta-catenin independent WNT signaling | R-HSA-3858494 | 5.83 |
| Activation of the phototransduction cascade | R-HSA-2485179 | 9.52 |
| Ca2+ pathway | R-HSA-4086398 | 7.1 |
| The phototransduction cascade | R-HSA-2514856 | 8.03 |
| Inactivation, recovery and regulation of the phototransduction cascade | R-HSA-2514859 | 8.08 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| GO term | GO ID | GO IC |
|---|---|---|
| 3',5'-cyclic-nucleotide phosphodiesterase activity | GO:0004114 | 6.52 |
| cyclic-nucleotide phosphodiesterase activity | GO:0004112 | 6.48 |
| phosphoric ester hydrolase activity | GO:0042578 | 3.82 |
| binding | GO:0005488 | 0.18 |
| enzyme inhibitor activity | GO:0004857 | 3.78 |
| molecular function regulator | GO:0098772 | 2.51 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| nucleoside phosphate binding | GO:1901265 | 1.96 |
| spectrin binding | GO:0030507 | 6.48 |
| phosphoric diester hydrolase activity | GO:0008081 | 5.23 |
| nucleotide binding | GO:0000166 | 1.96 |
| guanyl ribonucleotide binding | GO:0032561 | 3.73 |
| purine nucleotide binding | GO:0017076 | 2.19 |
| 3',5'-cyclic-GMP phosphodiesterase activity | GO:0047555 | 7.1 |
| hydrolase activity | GO:0016787 | 1.9 |
| enzyme regulator activity | GO:0030234 | 2.85 |
| hydrolase activity, acting on ester bonds | GO:0016788 | 3.1 |
| small molecule binding | GO:0036094 | 1.89 |
| catalytic activity | GO:0003824 | 1.05 |
| cGMP binding | GO:0030553 | 6.97 |
| cyclic nucleotide binding | GO:0030551 | 6.13 |
| 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 |
| ribonucleotide binding | GO:0032553 | 2.19 |