| Disease ID | Disease name | Source of annotation with B3GAT3 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 245600 | MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | B3GAT3 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Glycosaminoglycan biosynthesis - heparan sulfate / heparin | hsa00534 | 8.12 |
| Metabolic pathways | hsa01100 | 2.49 |
| Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate | hsa00532 | 8.45 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Defective B3GAT3 causes JDSSDHD | R-HSA-3560801 | 8.66 |
| Metabolism of carbohydrates | R-HSA-71387 | 4.93 |
| Chondroitin sulfate/dermatan sulfate metabolism | R-HSA-1793185 | 7.34 |
| Diseases associated with glycosaminoglycan metabolism | R-HSA-3560782 | 7.77 |
| Heparan sulfate/heparin (HS-GAG) metabolism | R-HSA-1638091 | 7.2 |
| Metabolism | R-HSA-1430728 | 2.34 |
| A tetrasaccharide linker sequence is required for GAG synthesis | R-HSA-1971475 | 8.28 |
| Glycosaminoglycan metabolism | R-HSA-1630316 | 6.04 |
| Diseases of glycosylation | R-HSA-3781865 | 6.89 |
| Disease | R-HSA-1643685 | 3.33 |
| GO term | GO ID | GO IC |
|---|---|---|
| phosphatase activator activity | GO:0019211 | 7.54 |
| cation binding | GO:0043169 | 1.4 |
| molecular function regulator | GO:0098772 | 2.51 |
| transferase activity, transferring glycosyl groups | GO:0016757 | 4.08 |
| catalytic activity | GO:0003824 | 1.05 |
| protein phosphatase activator activity | GO:0072542 | 7.95 |
| enzyme regulator activity | GO:0030234 | 2.85 |
| ion binding | GO:0043167 | 1.36 |
| protein phosphatase regulator activity | GO:0019888 | 5.41 |
| transferase activity | GO:0016740 | 1.95 |
| metal ion binding | GO:0046872 | 1.41 |
| enzyme activator activity | GO:0008047 | 3.56 |
| protein binding | GO:0005515 | 0.46 |
| transferase activity, transferring hexosyl groups | GO:0016758 | 4.43 |
| glucuronosyltransferase activity | GO:0015020 | 6.27 |
| galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity | GO:0015018 | 8.64 |
| UDP-glycosyltransferase activity | GO:0008194 | 4.81 |
| phosphatase regulator activity | GO:0019208 | 5.26 |
| binding | GO:0005488 | 0.18 |