| Disease ID | Disease name | Source of annotation with B4GALT1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS212066 | CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE II | OMIM | link to OMIM | 16 | B4GALT1, MOGS, SLC35C1, COG4, SLC39A8, TMEM199, COG5, SLC35A2, TMEM165, COG8, COG1, SLC35A1, COG6, MGAT2, CCDC115, COG7 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Metabolic pathways | hsa01100 | 2.49 |
| Glycosphingolipid biosynthesis - lacto and neolacto series | hsa00601 | 7.86 |
| N-Glycan biosynthesis | hsa00510 | 7.07 |
| Galactose metabolism | hsa00052 | 7.72 |
| Other types of O-glycan biosynthesis | hsa00514 | 7.72 |
| Glycosaminoglycan biosynthesis - keratan sulfate | hsa00533 | 8.68 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Diseases associated with glycosaminoglycan metabolism | R-HSA-3560782 | 7.77 |
| Interaction With The Zona Pellucida | R-HSA-1300644 | 9.66 |
| Signaling by NOTCH | R-HSA-157118 | 6.2 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Post-translational protein modification | R-HSA-597592 | 4.54 |
| Diseases of glycosylation | R-HSA-3781865 | 6.89 |
| Diseases associated with N-glycosylation of proteins | R-HSA-3781860 | 8.89 |
| Disease | R-HSA-1643685 | 3.33 |
| Keratan sulfate biosynthesis | R-HSA-2022854 | 8.18 |
| Metabolism of carbohydrates | R-HSA-71387 | 4.93 |
| Keratan sulfate/keratin metabolism | R-HSA-1638074 | 7.89 |
| Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) | R-HSA-4793953 | 12.98 |
| Fertilization | R-HSA-1187000 | 8.28 |
| Asparagine N-linked glycosylation | R-HSA-446203 | 6.1 |
| Lactose synthesis | R-HSA-5653890 | 11.4 |
| Glycosaminoglycan metabolism | R-HSA-1630316 | 6.04 |
| Transport to the Golgi and subsequent modification | R-HSA-948021 | 7.81 |
| Reproduction | R-HSA-1474165 | 8.28 |
| Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) | R-HSA-3656244 | 9.98 |
| Metabolism of proteins | R-HSA-392499 | 3.41 |
| Pre-NOTCH Processing in Golgi | R-HSA-1912420 | 8.81 |
| Pre-NOTCH Expression and Processing | R-HSA-1912422 | 7.49 |
| N-Glycan antennae elongation | R-HSA-975577 | 9.08 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| N-glycan antennae elongation in the medial/trans-Golgi | R-HSA-975576 | 8.66 |
| GO term | GO ID | GO IC |
|---|---|---|
| enzyme binding | GO:0019899 | 2.27 |
| beta-tubulin binding | GO:0048487 | 6.13 |
| galactosyltransferase activity | GO:0008378 | 6.21 |
| binding | GO:0005488 | 0.18 |
| beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity | GO:0003831 | 7.66 |
| cation binding | GO:0043169 | 1.4 |
| transition metal ion binding | GO:0046914 | 2.48 |
| ion binding | GO:0043167 | 1.36 |
| transferase activity | GO:0016740 | 1.95 |
| lactose synthase activity | GO:0004461 | 8.64 |
| metal ion binding | GO:0046872 | 1.41 |
| identical protein binding | GO:0042802 | 2.63 |
| protein homodimerization activity | GO:0042803 | 3.16 |
| tubulin binding | GO:0015631 | 4.1 |
| protein binding | GO:0005515 | 0.46 |
| UDP-galactosyltransferase activity | GO:0035250 | 6.41 |
| manganese ion binding | GO:0030145 | 5.89 |
| protein kinase binding | GO:0019901 | 3.44 |
| kinase binding | GO:0019900 | 3.32 |
| UDP-glycosyltransferase activity | GO:0008194 | 4.81 |
| N-acetyllactosamine synthase activity | GO:0003945 | 8.35 |
| cytoskeletal protein binding | GO:0008092 | 3.02 |
| catalytic activity | GO:0003824 | 1.05 |
| transferase activity, transferring glycosyl groups | GO:0016757 | 4.08 |
| alpha-tubulin binding | GO:0043014 | 6.37 |
| transferase activity, transferring hexosyl groups | GO:0016758 | 4.43 |
| protein dimerization activity | GO:0046983 | 2.72 |