| Disease ID | Disease name | Source of annotation with DBH | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 223360 | DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITAL | OMIM, HUMSAVAR | link to OMIM | 1 | DBH |
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| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Metabolic pathways | hsa01100 | 2.49 |
| Tyrosine metabolism | hsa00350 | 7.64 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Metabolism of amino acids and derivatives | R-HSA-71291 | 5.4 |
| Amine-derived hormones | R-HSA-209776 | 8.98 |
| Catecholamine biosynthesis | R-HSA-209905 | 10.98 |
| Metabolism | R-HSA-1430728 | 2.34 |
| GO term | GO ID | GO IC |
|---|---|---|
| anion binding | GO:0043168 | 4.17 |
| L-ascorbic acid binding | GO:0031418 | 6.69 |
| monooxygenase activity | GO:0004497 | 5.1 |
| metal ion binding | GO:0046872 | 1.41 |
| transition metal ion binding | GO:0046914 | 2.48 |
| dopamine beta-monooxygenase activity | GO:0004500 | 9.74 |
| oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen | GO:0016715 | 8.13 |
| oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen | GO:0016705 | 4.65 |
| carboxylic acid binding | GO:0031406 | 4.64 |
| cation binding | GO:0043169 | 1.4 |
| vitamin binding | GO:0019842 | 5.34 |
| ion binding | GO:0043167 | 1.36 |
| small molecule binding | GO:0036094 | 1.89 |
| catalytic activity | GO:0003824 | 1.05 |
| binding | GO:0005488 | 0.18 |
| copper ion binding | GO:0005507 | 5.71 |
| oxidoreductase activity | GO:0016491 | 3.12 |