| Disease ID | Disease name | Source of annotation with CYP1B1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 231300 | GLAUCOMA 3, PRIMARY CONGENITAL, A | ClinVar, OMIM, HUMSAVAR | link to OMIM | 2 | MYOC, CYP1B1 |
| 604229 | PETERS ANOMALY | OMIM | link to OMIM | 4 | FOXC1, PITX2, CYP1B1, PAX6 |
| 137760 | GLAUCOMA, PRIMARY OPEN ANGLE | ClinVar, HUMSAVAR | link to OMIM | 3 | LTBP2, OPTN, CYP1B1 |
| 137750 | GLAUCOMA 1, OPEN ANGLE, A | HUMSAVAR | link to OMIM | 2 | MYOC, CYP1B1 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Metabolism of xenobiotics by cytochrome P450 | hsa00980 | 6.48 |
| Chemical carcinogenesis | hsa05204 | 6.36 |
| MicroRNAs in cancer | hsa05206 | 5.38 |
| Steroid hormone biosynthesis | hsa00140 | 6.93 |
| Ovarian steroidogenesis | hsa04913 | 7.07 |
| Tryptophan metabolism | hsa00380 | 7.34 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Cytochrome P450 - arranged by substrate type | R-HSA-211897 | 7.08 |
| Biological oxidations | R-HSA-211859 | 5.55 |
| Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE) | R-HSA-2142816 | 9.81 |
| Arachidonic acid metabolism | R-HSA-2142753 | 7.34 |
| Phase 1 - Functionalization of compounds | R-HSA-211945 | 6.7 |
| Diseases of metabolism | R-HSA-5668914 | 6.57 |
| Endogenous sterols | R-HSA-211976 | 8.46 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Disease | R-HSA-1643685 | 3.33 |
| Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET) | R-HSA-2142670 | 9.98 |
| Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
| Defective CYP1B1 causes Glaucoma | R-HSA-5579000 | 12.98 |
| Metabolic disorders of biological oxidation enzymes | R-HSA-5579029 | 7.85 |
| GO term | GO ID | GO IC |
|---|---|---|
| cation binding | GO:0043169 | 1.4 |
| monooxygenase activity | GO:0004497 | 5.1 |
| oxygen binding | GO:0019825 | 5.89 |
| transition metal ion binding | GO:0046914 | 2.48 |
| heme binding | GO:0020037 | 4.86 |
| tetrapyrrole binding | GO:0046906 | 4.8 |
| metal ion binding | GO:0046872 | 1.41 |
| organic cyclic compound binding | GO:0097159 | 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 |
| catalytic activity | GO:0003824 | 1.05 |
| aromatase activity | GO:0070330 | 6.56 |
| binding | GO:0005488 | 0.18 |
| iron ion binding | GO:0005506 | 4.65 |
| oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen | GO:0016712 | 6.37 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| oxidoreductase activity | GO:0016491 | 3.12 |