| Disease ID | Disease name | Source of annotation with CYP7B1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS607765 | BILE ACID SYNTHESIS DEFECT, CONGENITAL | ClinVar, OMIM | link to OMIM | 5 | AMACR, AKR1D1, CYP7B1, HSD3B7, ABCD3 |
| PS303350 | SPASTIC PARAPLEGIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 47 | KIF5A, ATL1, C12orf65, IBA57, GJC2, GBA2, KIAA0196, ZFYVE26, ENTPD1, AP4E1, B4GALNT1, DDHD2, C19orf12, AP5Z1, SPG11, SLC33A1, MAG, CYP2U1, L1CAM, TFG, ARL6IP1, AP4M1, ERLIN2, KIF1A, AMPD2, SPAST, SPG20, AP4S1, HSPD1, RTN2, PLP1, CYP7B1, REEP1, SPG21, TECPR2, BSCL2, PNPLA6, SPG7, VPS37A, NT5C2, NIPA1, DDHD1, CPT1C, ALDH18A1, ZFYVE27, AP4B1, FA2H |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Primary bile acid biosynthesis | hsa00120 | 8.68 |
| Steroid hormone biosynthesis | hsa00140 | 6.93 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Bile acid and bile salt metabolism | R-HSA-194068 | 7.85 |
| Synthesis of bile acids and bile salts via 27-hydroxycholesterol | R-HSA-193807 | 9.08 |
| Biological oxidations | R-HSA-211859 | 5.55 |
| Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol | R-HSA-193368 | 8.4 |
| Cytochrome P450 - arranged by substrate type | R-HSA-211897 | 7.08 |
| Diseases of metabolism | R-HSA-5668914 | 6.57 |
| Phase 1 - Functionalization of compounds | R-HSA-211945 | 6.7 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Disease | R-HSA-1643685 | 3.33 |
| Synthesis of bile acids and bile salts | R-HSA-192105 | 8.23 |
| Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3) | R-HSA-5579013 | 12.98 |
| Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
| Endogenous sterols | R-HSA-211976 | 8.46 |
| 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 |
| metal ion binding | GO:0046872 | 1.41 |
| 25-hydroxycholesterol 7alpha-hydroxylase activity | GO:0033783 | 9.74 |
| transition metal ion binding | GO:0046914 | 2.48 |
| heme binding | GO:0020037 | 4.86 |
| tetrapyrrole binding | GO:0046906 | 4.8 |
| 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 |
| oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen | GO:0016709 | 6.07 |
| catalytic activity | GO:0003824 | 1.05 |
| binding | GO:0005488 | 0.18 |
| oxysterol 7-alpha-hydroxylase activity | GO:0008396 | 9.05 |
| 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 |