| Disease ID | Disease name | Source of annotation with PDE6B | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS310500 | NIGHT BLINDNESS, CONGENITAL STATIONARY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 12 | LRIT3, SLC24A1, GNAT1, NYX, TRPM1, CACNA1F, GRK1, RHO, GPR179, SAG, GRM6, PDE6B |
| 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
| 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 |
|---|---|---|
| hydrolase activity | GO:0016787 | 1.9 |
| cyclic-nucleotide phosphodiesterase activity | GO:0004112 | 6.48 |
| cation binding | GO:0043169 | 1.4 |
| 3',5'-cyclic-nucleotide phosphodiesterase activity | GO:0004114 | 6.52 |
| phosphoric diester hydrolase activity | GO:0008081 | 5.23 |
| hydrolase activity, acting on ester bonds | GO:0016788 | 3.1 |
| ion binding | GO:0043167 | 1.36 |
| phosphoric ester hydrolase activity | GO:0042578 | 3.82 |
| catalytic activity | GO:0003824 | 1.05 |
| binding | GO:0005488 | 0.18 |
| metal ion binding | GO:0046872 | 1.41 |
| 3',5'-cyclic-GMP phosphodiesterase activity | GO:0047555 | 7.1 |