| Disease ID | Disease name | Source of annotation with HEXA | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 272800 | TAY-SACHS DISEASE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | HEXA |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Lysosome | hsa04142 | 5.78 |
| Glycosphingolipid biosynthesis - ganglio series | hsa00604 | 8.77 |
| Glycosphingolipid biosynthesis - globo series | hsa00603 | 8.96 |
| Glycosaminoglycan degradation | hsa00531 | 8.45 |
| Other glycan degradation | hsa00511 | 8.45 |
| Metabolic pathways | hsa01100 | 2.49 |
| Amino sugar and nucleotide sugar metabolism | hsa00520 | 7.15 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Keratan sulfate degradation | R-HSA-2022857 | 9.28 |
| CS/DS degradation | R-HSA-2024101 | 9.18 |
| Glycosphingolipid metabolism | R-HSA-1660662 | 7.62 |
| Metabolism of carbohydrates | R-HSA-71387 | 4.93 |
| Keratan sulfate/keratin metabolism | R-HSA-1638074 | 7.89 |
| Chondroitin sulfate/dermatan sulfate metabolism | R-HSA-1793185 | 7.34 |
| Sphingolipid metabolism | R-HSA-428157 | 6.79 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Hyaluronan metabolism | R-HSA-2142845 | 8.98 |
| Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
| Glycosaminoglycan metabolism | R-HSA-1630316 | 6.04 |
| Hyaluronan uptake and degradation | R-HSA-2160916 | 9.4 |
| GO term | GO ID | GO IC |
|---|---|---|
| hydrolase activity | GO:0016787 | 1.9 |
| protein binding | GO:0005515 | 0.46 |
| hydrolase activity, acting on glycosyl bonds | GO:0016798 | 4.91 |
| hexosaminidase activity | GO:0015929 | 7.03 |
| catalytic activity | GO:0003824 | 1.05 |
| transferase activity | GO:0016740 | 1.95 |
| beta-N-acetylhexosaminidase activity | GO:0004563 | 8.13 |
| binding | GO:0005488 | 0.18 |
| transferase activity, transferring glycosyl groups | GO:0016757 | 4.08 |
| hydrolase activity, hydrolyzing O-glycosyl compounds | GO:0004553 | 5.14 |
| acetylglucosaminyltransferase activity | GO:0008375 | 5.85 |
| protein dimerization activity | GO:0046983 | 2.72 |
| protein heterodimerization activity | GO:0046982 | 3.64 |
| UDP-glycosyltransferase activity | GO:0008194 | 4.81 |
| transferase activity, transferring hexosyl groups | GO:0016758 | 4.43 |