| Disease ID | Disease name | Source of annotation with CA2 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS259700 | OSTEOPETROSIS, AUTOSOMAL RECESSIVE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 8 | TNFRSF11A, TNFSF11, SNX10, PLEKHM1, CA2, CLCN7, OSTM1, TCIRG1 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Gastric acid secretion | hsa04971 | 6.48 |
| Pancreatic secretion | hsa04972 | 6.07 |
| Collecting duct acid secretion | hsa04966 | 7.91 |
| Bile secretion | hsa04976 | 6.56 |
| Proximal tubule bicarbonate reclamation | hsa04964 | 8.24 |
| Nitrogen metabolism | hsa00910 | 8.6 |
| 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 |
|---|---|---|
| hydrolase activity | GO:0016787 | 1.9 |
| carbonate dehydratase activity | GO:0004089 | 7.1 |
| carboxylic ester hydrolase activity | GO:0052689 | 4.81 |
| transition metal ion binding | GO:0046914 | 2.48 |
| cation binding | GO:0043169 | 1.4 |
| carbon-oxygen lyase activity | GO:0016835 | 5.46 |
| hydro-lyase activity | GO:0016836 | 5.81 |
| hydrolase activity, acting on ester bonds | GO:0016788 | 3.1 |
| 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 |
| arylesterase activity | GO:0004064 | 7.95 |
| lyase activity | GO:0016829 | 4.53 |
| zinc ion binding | GO:0008270 | 2.66 |