| Disease ID | Disease name | Source of annotation with CA4 | 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 |
|---|---|---|
| Nitrogen metabolism | hsa00910 | 8.6 |
| Proximal tubule bicarbonate reclamation | hsa04964 | 8.24 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Erythrocytes take up oxygen and release carbon dioxide | R-HSA-1247673 | 9.98 |
| O2/CO2 exchange in erythrocytes | R-HSA-1480926 | 9.98 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Erythrocytes take up carbon dioxide and release oxygen | R-HSA-1237044 | 9.98 |
| Reversible hydration of carbon dioxide | R-HSA-1475029 | 9.4 |
| GO term | GO ID | GO IC |
|---|---|---|
| cation binding | GO:0043169 | 1.4 |
| carbonate dehydratase activity | GO:0004089 | 7.1 |
| transition metal ion binding | GO:0046914 | 2.48 |
| carbon-oxygen lyase activity | GO:0016835 | 5.46 |
| hydro-lyase activity | GO:0016836 | 5.81 |
| ion binding | GO:0043167 | 1.36 |
| catalytic activity | GO:0003824 | 1.05 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| metal ion binding | GO:0046872 | 1.41 |
| lyase activity | GO:0016829 | 4.53 |
| zinc ion binding | GO:0008270 | 2.66 |