| Disease ID | Disease name | Source of annotation with B4GAT1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS236670 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE A | ClinVar, OMIM, HUMSAVAR | link to OMIM | 14 | GMPPB, POMT2, LARGE1, FKTN, TMEM5, B4GAT1, POMT1, B3GALNT2, FKRP, ISPD, POMGNT2, POMGNT1, POMK, DAG1 |
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| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Metabolic pathways | hsa01100 | 2.49 |
| Glycosphingolipid biosynthesis - lacto and neolacto series | hsa00601 | 7.86 |
| Glycosaminoglycan biosynthesis - keratan sulfate | hsa00533 | 8.68 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Glycosaminoglycan metabolism | R-HSA-1630316 | 6.04 |
| Keratan sulfate biosynthesis | R-HSA-2022854 | 8.18 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Metabolism of carbohydrates | R-HSA-71387 | 4.93 |
| Keratan sulfate/keratin metabolism | R-HSA-1638074 | 7.89 |
| GO term | GO ID | GO IC |
|---|---|---|
| cation binding | GO:0043169 | 1.4 |
| N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity | GO:0008532 | 7.95 |
| 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 |
| transferase activity, transferring hexosyl groups | GO:0016758 | 4.43 |
| acetylglucosaminyltransferase activity | GO:0008375 | 5.85 |
| glucuronosyltransferase activity | GO:0015020 | 6.27 |
| metal ion binding | GO:0046872 | 1.41 |
| UDP-glycosyltransferase activity | GO:0008194 | 4.81 |