| Disease ID | Disease name | Source of annotation with NT5C2 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS303350 | SPASTIC PARAPLEGIA | ClinVar, OMIM | link to OMIM | 47 | KIF5A, ATL1, C12orf65, IBA57, GJC2, GBA2, KIAA0196, ZFYVE26, ENTPD1, AP4E1, B4GALNT1, DDHD2, C19orf12, AP5Z1, SPG11, SLC33A1, MAG, CYP2U1, L1CAM, TFG, ARL6IP1, AP4M1, ERLIN2, KIF1A, AMPD2, SPAST, SPG20, AP4S1, HSPD1, RTN2, PLP1, CYP7B1, REEP1, SPG21, TECPR2, BSCL2, PNPLA6, SPG7, VPS37A, NT5C2, NIPA1, DDHD1, CPT1C, ALDH18A1, ZFYVE27, AP4B1, FA2H |
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 |
|---|---|---|
| Abacavir metabolism | R-HSA-2161541 | 10.66 |
| Abacavir transport and metabolism | R-HSA-2161522 | 9.66 |
| Metabolism of nucleotides | R-HSA-15869 | 6.7 |
| Purine catabolism | R-HSA-74259 | 9.66 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Purine metabolism | R-HSA-73847 | 7.94 |
| GO term | GO ID | GO IC |
|---|---|---|
| phosphatase activity | GO:0016791 | 4.11 |
| nucleobase-containing compound kinase activity | GO:0019205 | 5.85 |
| 5'-nucleotidase activity | GO:0008253 | 7.1 |
| nucleotidase activity | GO:0008252 | 6.97 |
| phosphoric ester hydrolase activity | GO:0042578 | 3.82 |
| binding | GO:0005488 | 0.18 |
| nucleotide binding | GO:0000166 | 1.96 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| nucleoside phosphate binding | GO:1901265 | 1.96 |
| cation binding | GO:0043169 | 1.4 |
| ion binding | GO:0043167 | 1.36 |
| transferase activity | GO:0016740 | 1.95 |
| metal ion binding | GO:0046872 | 1.41 |
| hydrolase activity | GO:0016787 | 1.9 |
| kinase activity | GO:0016301 | 2.93 |
| hydrolase activity, acting on ester bonds | GO:0016788 | 3.1 |
| small molecule binding | GO:0036094 | 1.89 |
| catalytic activity | GO:0003824 | 1.05 |
| phosphotransferase activity, alcohol group as acceptor | GO:0016773 | 3.08 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| nucleoside phosphotransferase activity | GO:0050146 | 9.74 |
| protein binding | GO:0005515 | 0.46 |
| transferase activity, transferring phosphorus-containing groups | GO:0016772 | 2.77 |