| Disease ID | Disease name | Source of annotation with CHST14 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 601776 | EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | CHST14 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate | hsa00532 | 8.45 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Metabolism of carbohydrates | R-HSA-71387 | 4.93 |
| Dermatan sulfate biosynthesis | R-HSA-2022923 | 9.52 |
| Chondroitin sulfate/dermatan sulfate metabolism | R-HSA-1793185 | 7.34 |
| Defective CHST14 causes EDS, musculocontractural type | R-HSA-3595174 | 9.98 |
| Diseases associated with glycosaminoglycan metabolism | R-HSA-3560782 | 7.77 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Diseases of glycosylation | R-HSA-3781865 | 6.89 |
| Glycosaminoglycan metabolism | R-HSA-1630316 | 6.04 |
| Disease | R-HSA-1643685 | 3.33 |
| GO term | GO ID | GO IC |
|---|---|---|
| anion binding | GO:0043168 | 4.17 |
| transferase activity, transferring sulfur-containing groups | GO:0016782 | 5.52 |
| sulfotransferase activity | GO:0008146 | 5.77 |
| ion binding | GO:0043167 | 1.36 |
| catalytic activity | GO:0003824 | 1.05 |
| transferase activity | GO:0016740 | 1.95 |
| binding | GO:0005488 | 0.18 |
| N-acetylgalactosamine 4-O-sulfotransferase activity | GO:0001537 | 8.13 |
| phosphate ion binding | GO:0042301 | 7.25 |