| Disease ID | Disease name | Source of annotation with UGT1A1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS237450 | HYPERBILIRUBINEMIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 5 | UGT1A1, SLCO1B1, ABCC2, SLCO1B3, UGT1A4 |
| 601816 | BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 | ClinVar, OMIM | link to OMIM | 1 | UGT1A1 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Metabolism of xenobiotics by cytochrome P450 | hsa00980 | 6.48 |
| Porphyrin and chlorophyll metabolism | hsa00860 | 7.41 |
| Drug metabolism - cytochrome P450 | hsa00982 | 6.6 |
| Retinol metabolism | hsa00830 | 6.79 |
| Drug metabolism - other enzymes | hsa00983 | 7.21 |
| Steroid hormone biosynthesis | hsa00140 | 6.93 |
| Ascorbate and aldarate metabolism | hsa00053 | 8.07 |
| Starch and sucrose metabolism | hsa00500 | 6.91 |
| Chemical carcinogenesis | hsa05204 | 6.36 |
| Pentose and glucuronate interconversions | hsa00040 | 7.68 |
| Metabolic pathways | hsa01100 | 2.49 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Glucuronidation | R-HSA-156588 | 8.73 |
| Biological oxidations | R-HSA-211859 | 5.55 |
| Phase II conjugation | R-HSA-156580 | 6.52 |
| Diseases of metabolism | R-HSA-5668914 | 6.57 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Metabolic disorders of biological oxidation enzymes | R-HSA-5579029 | 7.85 |
| Metabolism of porphyrins | R-HSA-189445 | 8.89 |
| Defective UGT1A1 causes hyperbilirubinemia | R-HSA-5579002 | 12.98 |
| Heme degradation | R-HSA-189483 | 10.4 |
| Disease | R-HSA-1643685 | 3.33 |
| GO term | GO ID | GO IC |
|---|---|---|
| isoprenoid binding | GO:0019840 | 6.05 |
| enzyme binding | GO:0019899 | 2.27 |
| binding | GO:0005488 | 0.18 |
| enzyme inhibitor activity | GO:0004857 | 3.78 |
| molecular function regulator | GO:0098772 | 2.51 |
| anion binding | GO:0043168 | 4.17 |
| ion binding | GO:0043167 | 1.36 |
| transferase activity | GO:0016740 | 1.95 |
| glucuronosyltransferase activity | GO:0015020 | 6.27 |
| retinoid binding | GO:0005501 | 6.1 |
| identical protein binding | GO:0042802 | 2.63 |
| protein homodimerization activity | GO:0042803 | 3.16 |
| transferase activity, transferring glycosyl groups | GO:0016757 | 4.08 |
| enzyme regulator activity | GO:0030234 | 2.85 |
| lipid binding | GO:0008289 | 3.26 |
| catalytic activity | GO:0003824 | 1.05 |
| steroid binding | GO:0005496 | 5.24 |
| monocarboxylic acid binding | GO:0033293 | 5.61 |
| UDP-glycosyltransferase activity | GO:0008194 | 4.81 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| carboxylic acid binding | GO:0031406 | 4.64 |
| protein binding | GO:0005515 | 0.46 |
| retinoic acid binding | GO:0001972 | 6.6 |
| transferase activity, transferring hexosyl groups | GO:0016758 | 4.43 |
| protein dimerization activity | GO:0046983 | 2.72 |
| protein heterodimerization activity | GO:0046982 | 3.64 |