| Disease ID | Disease name | Source of annotation with CYP2R1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 600081 | VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | CYP2R1 |
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 |
|---|---|---|
| Diseases of metabolism | R-HSA-5668914 | 6.57 |
| Cytochrome P450 - arranged by substrate type | R-HSA-211897 | 7.08 |
| Metabolism of steroid hormones and vitamin D | R-HSA-196071 | 7.89 |
| Biological oxidations | R-HSA-211859 | 5.55 |
| Vitamins | R-HSA-211916 | 10.4 |
| Vitamin D (calciferol) metabolism | R-HSA-196791 | 10.18 |
| Defective CYP2R1 causes Rickets vitamin D-dependent 1B (VDDR1B) | R-HSA-5579027 | 12.98 |
| Phase 1 - Functionalization of compounds | R-HSA-211945 | 6.7 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Metabolic disorders of biological oxidation enzymes | R-HSA-5579029 | 7.85 |
| Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
| Disease | R-HSA-1643685 | 3.33 |
| GO term | GO ID | GO IC |
|---|---|---|
| cation binding | GO:0043169 | 1.4 |
| monooxygenase activity | GO:0004497 | 5.1 |
| metal ion binding | GO:0046872 | 1.41 |
| transition metal ion binding | GO:0046914 | 2.48 |
| heme binding | GO:0020037 | 4.86 |
| tetrapyrrole binding | GO:0046906 | 4.8 |
| vitamin D 25-hydroxylase activity | GO:0070643 | 9.05 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| catalytic activity | GO:0003824 | 1.05 |
| oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen | GO:0016705 | 4.65 |
| ion binding | GO:0043167 | 1.36 |
| vitamin D3 25-hydroxylase activity | GO:0030343 | 9.05 |
| binding | GO:0005488 | 0.18 |
| iron ion binding | GO:0005506 | 4.65 |
| steroid hydroxylase activity | GO:0008395 | 6.3 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| oxidoreductase activity | GO:0016491 | 3.12 |