| Disease ID | Disease name | Source of annotation with CHSY1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 605282 | TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | CHSY1 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Metabolic pathways | hsa01100 | 2.49 |
| Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate | hsa00532 | 8.45 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Metabolism of carbohydrates | R-HSA-71387 | 4.93 |
| Chondroitin sulfate/dermatan sulfate metabolism | R-HSA-1793185 | 7.34 |
| Defective CHSY1 causes TPBS | R-HSA-3595177 | 9.98 |
| Diseases associated with glycosaminoglycan metabolism | R-HSA-3560782 | 7.77 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Glycosaminoglycan metabolism | R-HSA-1630316 | 6.04 |
| Diseases of glycosylation | R-HSA-3781865 | 6.89 |
| Chondroitin sulfate biosynthesis | R-HSA-2022870 | 8.66 |
| Disease | R-HSA-1643685 | 3.33 |
| GO term | GO ID | GO IC |
|---|---|---|
| cation binding | GO:0043169 | 1.4 |
| acetylgalactosaminyltransferase activity | GO:0008376 | 6.21 |
| ion binding | GO:0043167 | 1.36 |
| catalytic activity | GO:0003824 | 1.05 |
| transferase activity | GO:0016740 | 1.95 |
| binding | GO:0005488 | 0.18 |
| transferase activity, transferring glycosyl groups | GO:0016757 | 4.08 |
| glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity | GO:0047238 | 8.13 |
| transferase activity, transferring hexosyl groups | GO:0016758 | 4.43 |
| glucuronosyltransferase activity | GO:0015020 | 6.27 |
| metal ion binding | GO:0046872 | 1.41 |
| UDP-glycosyltransferase activity | GO:0008194 | 4.81 |
| N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity | GO:0050510 | 8.35 |