| Disease ID | Disease name | Source of annotation with SPR | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 612716 | DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | SPR |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Metabolic pathways | hsa01100 | 2.49 |
| Folate biosynthesis | hsa00790 | 8.86 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation | R-HSA-1474151 | 9.66 |
| Metabolism | R-HSA-1430728 | 2.34 |
| eNOS activation and regulation | R-HSA-203765 | 8.81 |
| Metabolism of nitric oxide | R-HSA-202131 | 8.81 |
| GO term | GO ID | GO IC |
|---|---|---|
| aldo-keto reductase (NADP) activity | GO:0004033 | 6.48 |
| coenzyme binding | GO:0050662 | 4.53 |
| NADP binding | GO:0050661 | 5.93 |
| oxidoreductase activity, acting on CH-OH group of donors | GO:0016614 | 4.83 |
| oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor | GO:0016616 | 5.0 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| small molecule binding | GO:0036094 | 1.89 |
| catalytic activity | GO:0003824 | 1.05 |
| cofactor binding | GO:0048037 | 4.16 |
| binding | GO:0005488 | 0.18 |
| nucleotide binding | GO:0000166 | 1.96 |
| sepiapterin reductase activity | GO:0004757 | 9.74 |
| nucleoside phosphate binding | GO:1901265 | 1.96 |
| oxidoreductase activity | GO:0016491 | 3.12 |