| Disease ID | Disease name | Source of annotation with NT5C3A | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 266120 | URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | NT5C3A |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Nicotinate and nicotinamide metabolism | hsa00760 | 8.01 |
| Metabolic pathways | hsa01100 | 2.49 |
| Pyrimidine metabolism | hsa00240 | 6.01 |
| Purine metabolism | hsa00230 | 5.28 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Metabolism of nucleotides | R-HSA-15869 | 6.7 |
| Pyrimidine metabolism | R-HSA-73848 | 8.4 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Pyrimidine catabolism | R-HSA-73621 | 9.4 |
| GO term | GO ID | GO IC |
|---|---|---|
| hydrolase activity | GO:0016787 | 1.9 |
| metal ion binding | GO:0046872 | 1.41 |
| phosphatase activity | GO:0016791 | 4.11 |
| cation binding | GO:0043169 | 1.4 |
| nucleotide binding | GO:0000166 | 1.96 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| magnesium ion binding | GO:0000287 | 4.41 |
| 5'-nucleotidase activity | GO:0008253 | 7.1 |
| nucleotidase activity | GO:0008252 | 6.97 |
| hydrolase activity, acting on ester bonds | GO:0016788 | 3.1 |
| 2'-phosphotransferase activity | GO:0008665 | 9.05 |
| phosphoric ester hydrolase activity | GO:0042578 | 3.82 |
| catalytic activity | GO:0003824 | 1.05 |
| transferase activity | GO:0016740 | 1.95 |
| small molecule binding | GO:0036094 | 1.89 |
| binding | GO:0005488 | 0.18 |
| ion binding | GO:0043167 | 1.36 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| nucleoside phosphate binding | GO:1901265 | 1.96 |