| Disease ID | Disease name | Source of annotation with PNPO | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 610090 | PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | PNPO |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Vitamin B6 metabolism | hsa00750 | 10.18 |
| Metabolic pathways | hsa01100 | 2.49 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Metabolism of vitamins and cofactors | R-HSA-196854 | 6.54 |
| Vitamins B6 activation to pyridoxal phosphate | R-HSA-964975 | 11.4 |
| Metabolism of water-soluble vitamins and cofactors | R-HSA-196849 | 6.54 |
| Metabolism | R-HSA-1430728 | 2.34 |
| GO term | GO ID | GO IC |
|---|---|---|
| oxidoreductase activity, acting on the CH-NH2 group of donors | GO:0016638 | 6.74 |
| carbohydrate derivative binding | GO:0097367 | 2.03 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor | GO:0016641 | 7.03 |
| pyridoxamine-phosphate oxidase activity | GO:0004733 | 9.74 |
| nucleoside phosphate binding | GO:1901265 | 1.96 |
| nucleotide binding | GO:0000166 | 1.96 |
| small molecule binding | GO:0036094 | 1.89 |
| catalytic activity | GO:0003824 | 1.05 |
| cofactor binding | GO:0048037 | 4.16 |
| binding | GO:0005488 | 0.18 |
| FMN binding | GO:0010181 | 7.03 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| ribonucleotide binding | GO:0032553 | 2.19 |
| oxidoreductase activity | GO:0016491 | 3.12 |