| Disease ID | Disease name | Source of annotation with B3GALT6 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 271640 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | B3GALT6 |
| 615349 | EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | B3GALT6 |
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 |
|---|---|---|
| Metabolism of carbohydrates | R-HSA-71387 | 4.93 |
| Chondroitin sulfate/dermatan sulfate metabolism | R-HSA-1793185 | 7.34 |
| 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 |
| GO term | GO ID | GO IC |
|---|---|---|
| UDP-galactosyltransferase activity | GO:0035250 | 6.41 |
| catalytic activity | GO:0003824 | 1.05 |
| transferase activity | GO:0016740 | 1.95 |
| galactosyltransferase activity | GO:0008378 | 6.21 |
| transferase activity, transferring glycosyl groups | GO:0016757 | 4.08 |
| galactosylxylosylprotein 3-beta-galactosyltransferase activity | GO:0047220 | 9.74 |
| UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity | GO:0008499 | 7.17 |
| transferase activity, transferring hexosyl groups | GO:0016758 | 4.43 |
| UDP-glycosyltransferase activity | GO:0008194 | 4.81 |
| beta-1,3-galactosyltransferase activity | GO:0048531 | 7.03 |