| Disease ID | Disease name | Source of annotation with HGD | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 203500 | ALKAPTONURIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | HGD |
Download the gene annotation in CSV format
| 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 |
| Phenylalanine and tyrosine catabolism | R-HSA-71182 | 9.66 |
| Metabolism | R-HSA-1430728 | 2.34 |
| GO term | GO ID | GO IC |
|---|---|---|
| oxidoreductase activity, acting on single donors with incorporation of molecular oxygen | GO:0016701 | 6.41 |
| dioxygenase activity | GO:0051213 | 5.25 |
| cation binding | GO:0043169 | 1.4 |
| homogentisate 1,2-dioxygenase activity | GO:0004411 | 9.74 |
| oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen | GO:0016702 | 6.44 |
| ion binding | GO:0043167 | 1.36 |
| catalytic activity | GO:0003824 | 1.05 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| metal ion binding | GO:0046872 | 1.41 |
| oxidoreductase activity | GO:0016491 | 3.12 |