| Disease ID | Disease name | Source of annotation with GUCA1B | 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
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Phototransduction | hsa04744 | 7.91 |
| Olfactory transduction | hsa04740 | 4.13 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| The phototransduction cascade | R-HSA-2514856 | 8.03 |
| Visual phototransduction | R-HSA-2187338 | 6.44 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| Inactivation, recovery and regulation of the phototransduction cascade | R-HSA-2514859 | 8.08 |
| GO term | GO ID | GO IC |
|---|---|---|
| binding | GO:0005488 | 0.18 |
| cation binding | GO:0043169 | 1.4 |
| guanylate cyclase regulator activity | GO:0030249 | 7.66 |
| molecular function regulator | GO:0098772 | 2.51 |
| enzyme regulator activity | GO:0030234 | 2.85 |
| ion binding | GO:0043167 | 1.36 |
| metal ion binding | GO:0046872 | 1.41 |
| guanylate cyclase activator activity | GO:0030250 | 7.79 |
| enzyme activator activity | GO:0008047 | 3.56 |
| calcium sensitive guanylate cyclase activator activity | GO:0008048 | 8.13 |
| structural molecule activity | GO:0005198 | 3.1 |
| cyclase regulator activity | GO:0010851 | 7.54 |
| cyclase activator activity | GO:0010853 | 7.79 |
| calcium ion binding | GO:0005509 | 3.17 |