Disease ID | Disease name | Source of annotation with CA5A | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
615751 | CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | CA5A |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Nitrogen metabolism | hsa00910 | 8.6 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Reversible hydration of carbon dioxide | R-HSA-1475029 | 9.4 |
Metabolism | R-HSA-1430728 | 2.34 |
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 |
metal ion binding | GO:0046872 | 1.41 |
lyase activity | GO:0016829 | 4.53 |
zinc ion binding | GO:0008270 | 2.66 |