| Disease ID | Disease name | Source of annotation with EXT2 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 133701 | EXOSTOSES, MULTIPLE, TYPE II | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | EXT2 |
| 616682 | SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME | ClinVar, OMIM | link to OMIM | 1 | EXT2 |
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 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Metabolism of carbohydrates | R-HSA-71387 | 4.93 |
| Diseases associated with glycosaminoglycan metabolism | R-HSA-3560782 | 7.77 |
| Defective EXT2 causes exostoses 2 | R-HSA-3656237 | 9.28 |
| Heparan sulfate/heparin (HS-GAG) metabolism | R-HSA-1638091 | 7.2 |
| HS-GAG biosynthesis | R-HSA-2022928 | 8.03 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Diseases of glycosylation | R-HSA-3781865 | 6.89 |
| Glycosaminoglycan metabolism | R-HSA-1630316 | 6.04 |
| Disease | R-HSA-1643685 | 3.33 |
| GO term | GO ID | GO IC |
|---|---|---|
| cation binding | GO:0043169 | 1.4 |
| protein heterodimerization activity | GO:0046982 | 3.64 |
| transferase activity, transferring glycosyl groups | GO:0016757 | 4.08 |
| transferase activity, transferring hexosyl groups | GO:0016758 | 4.43 |
| glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity | GO:0050508 | 8.64 |
| heparan sulfate N-acetylglucosaminyltransferase activity | GO:0042328 | 9.05 |
| 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 |
| N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity | GO:0050509 | 9.05 |
| acetylglucosaminyltransferase activity | GO:0008375 | 5.85 |
| protein dimerization activity | GO:0046983 | 2.72 |
| metal ion binding | GO:0046872 | 1.41 |
| UDP-glycosyltransferase activity | GO:0008194 | 4.81 |
| glucuronosyltransferase activity | GO:0015020 | 6.27 |
| identical protein binding | GO:0042802 | 2.63 |
| protein homodimerization activity | GO:0042803 | 3.16 |