| Disease ID | Disease name | Source of annotation with GLA | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 301500 | FABRY DISEASE | OMIM, HUMSAVAR | link to OMIM | 1 | GLA |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Glycerolipid metabolism | hsa00561 | 6.91 |
| Lysosome | hsa04142 | 5.78 |
| Galactose metabolism | hsa00052 | 7.72 |
| Sphingolipid metabolism | hsa00600 | 7.15 |
| Glycosphingolipid biosynthesis - globo series | hsa00603 | 8.96 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Glycosphingolipid metabolism | R-HSA-1660662 | 7.62 |
| Sphingolipid metabolism | R-HSA-428157 | 6.79 |
| GO term | GO ID | GO IC |
|---|---|---|
| hydrolase activity | GO:0016787 | 1.9 |
| raffinose alpha-galactosidase activity | GO:0052692 | 9.74 |
| carbohydrate derivative binding | GO:0097367 | 2.03 |
| galactosidase activity | GO:0015925 | 7.79 |
| hydrolase activity, acting on glycosyl bonds | GO:0016798 | 4.91 |
| catalytic activity | GO:0003824 | 1.05 |
| alpha-galactosidase activity | GO:0004557 | 9.05 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| hydrolase activity, hydrolyzing O-glycosyl compounds | GO:0004553 | 5.14 |
| protein dimerization activity | GO:0046983 | 2.72 |
| galactoside binding | GO:0016936 | 8.35 |
| receptor binding | GO:0005102 | 2.43 |
| identical protein binding | GO:0042802 | 2.63 |
| protein homodimerization activity | GO:0042803 | 3.16 |