| Disease ID | Disease name | Source of annotation with GALT | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 230400 | GALACTOSEMIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | GALT |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Metabolic pathways | hsa01100 | 2.49 |
| Galactose metabolism | hsa00052 | 7.72 |
| Prolactin signaling pathway | hsa04917 | 6.6 |
| Amino sugar and nucleotide sugar metabolism | hsa00520 | 7.15 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Metabolism of carbohydrates | R-HSA-71387 | 4.93 |
| Diseases associated with glycosylation precursor biosynthesis | R-HSA-5609975 | 9.08 |
| Defective GALT can cause Galactosemia | R-HSA-5609978 | 12.98 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Diseases of glycosylation | R-HSA-3781865 | 6.89 |
| Galactose catabolism | R-HSA-70370 | 10.66 |
| Disease | R-HSA-1643685 | 3.33 |
| GO term | GO ID | GO IC |
|---|---|---|
| cation binding | GO:0043169 | 1.4 |
| nucleotidyltransferase activity | GO:0016779 | 4.81 |
| transition metal ion binding | GO:0046914 | 2.48 |
| phosphotransferase activity, alcohol group as acceptor | GO:0016773 | 3.08 |
| transferase activity, transferring phosphorus-containing groups | GO:0016772 | 2.77 |
| kinase activity | GO:0016301 | 2.93 |
| gluconokinase activity | GO:0046316 | 9.05 |
| uridylyltransferase activity | GO:0070569 | 7.66 |
| ion binding | GO:0043167 | 1.36 |
| catalytic activity | GO:0003824 | 1.05 |
| transferase activity | GO:0016740 | 1.95 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| UDP-glucose:hexose-1-phosphate uridylyltransferase activity | GO:0008108 | 9.05 |
| metal ion binding | GO:0046872 | 1.41 |
| zinc ion binding | GO:0008270 | 2.66 |