| Disease ID | Disease name | Source of annotation with PHYH | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 266500 | REFSUM DISEASE, CLASSIC | OMIM, HUMSAVAR | link to OMIM | 2 | PEX7, PHYH |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Peroxisome | hsa04146 | 6.34 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Peroxisomal lipid metabolism | R-HSA-390918 | 8.59 |
| Alpha-oxidation of phytanate | R-HSA-389599 | 10.98 |
| GO term | GO ID | GO IC |
|---|---|---|
| anion binding | GO:0043168 | 4.17 |
| L-ascorbic acid binding | GO:0031418 | 6.69 |
| dioxygenase activity | GO:0051213 | 5.25 |
| cation binding | GO:0043169 | 1.4 |
| oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors | GO:0016706 | 5.95 |
| oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen | GO:0016705 | 4.65 |
| carboxylic acid binding | GO:0031406 | 4.64 |
| 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 |
| cofactor binding | GO:0048037 | 4.16 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| phytanoyl-CoA dioxygenase activity | GO:0048244 | 9.74 |
| metal ion binding | GO:0046872 | 1.41 |
| oxidoreductase activity | GO:0016491 | 3.12 |