| Disease ID | Disease name | Source of annotation with SC5D | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 607330 | LATHOSTEROLOSIS | OMIM, HUMSAVAR | link to OMIM | 1 | SC5D |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Steroid biosynthesis | hsa00100 | 8.45 |
| Metabolic pathways | hsa01100 | 2.49 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
| Regulation of cholesterol biosynthesis by SREBP (SREBF) | R-HSA-1655829 | 7.23 |
| Cholesterol biosynthesis | R-HSA-191273 | 8.46 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Activation of gene expression by SREBF (SREBP) | R-HSA-2426168 | 7.62 |
| GO term | GO ID | GO IC |
|---|---|---|
| cation binding | GO:0043169 | 1.4 |
| transition metal ion binding | GO:0046914 | 2.48 |
| C-5 sterol desaturase activity | GO:0000248 | 9.05 |
| oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water | GO:0016717 | 8.13 |
| oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen | GO:0016705 | 4.65 |
| ion binding | GO:0043167 | 1.36 |
| catalytic activity | GO:0003824 | 1.05 |
| binding | GO:0005488 | 0.18 |
| iron ion binding | GO:0005506 | 4.65 |
| metal ion binding | GO:0046872 | 1.41 |
| sterol desaturase activity | GO:0070704 | 9.05 |
| oxidoreductase activity | GO:0016491 | 3.12 |